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Journal of Medicine and Pharmacy","Tạp chí Y Dược học Cần Thơ",{"EN":487,"VI":488},"\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">04\u002F10\u002F2015 Ministry of Information and Communications allowed Can Tho journal of medicine and pharmacy to operate (102 \u002FGP-BTTTT)\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">07\u002F16\u002F2015 Can Tho journal of medicine and pharmacy is internationally recognized: ISSN 2354-1210\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">In 2016, The journal has been included in the list of medical science journals by The State Council for professorship which is awarded a work score of 0-0.5 points for a published article.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Can Tho Journal of Medicine and Pharmacy welcome original works that haven’t been submitted or published in other medical journals. Posts must contain content related to one of the journal’s categories.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">The content published\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">The journal is divided into 3 categories:\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">- Scientific research article: are valuable scientific works, which have been researched and accepted.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">- Overview of medicine, biology and pharmacy: serving the objective of continuing training in the fields of medicine, biology and pharmacy; to systematize classical and modern knowledge.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">- Update information on new knowledge about medicine, biology, pharmacy in the country and in the world.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Scope\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">- Publication and introduction of scientific research in the fields:\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">+ Medicine (internal medicine, surgery, pediatrics, obstetrics and gynecology, odonto-stomatology, laboratory, oncology, traditional medicine, nursing).\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">+ Biology (genetics, biotechnology).\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">+ Pharmacology (pharmaceutics, drug quality analysis-control, synthetic pharmaceutical chemistry, biochemistry, pharmacognosy, botany, clinical pharmacy).\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">- To enhance the quality of undergraduate, postgraduate education, scientifically researching and meet the necessary treatment in hospital.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">- Introducing the updated domestic and oversea information about science technology to promote scientific research and exchanging technology in local, other universities.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">- Exchanging pharmaceutical and medical information for social health developing in the Mekong Delta and Vietnam.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">The object\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Postgraduate students, student of Can Tho University of Medicine and Pharmacy, scientists from schools, research institutes, hospitals, health centers, pharmaceutical companies of the Mekong Delta; other provinces and regions in Vietnam and other country.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Address\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Headquarters of Can Tho Journal of Medicine and Pharmacy, located Scientific Research and International Cooperation Office: 179 Nguyen Van Cu Street, An Khanh Ward, Ninh Kieu District, Can Tho City, Vietnam.\u003C\u002Fspan>\u003C\u002Fp>","\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Ngày 16\u002F7\u002F2015, Tạp chí Y Dược học Cần Thơ được cấp chỉ số quốc tế: ISSN 2354-1210.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Từ tháng 4\u002F2016, Tạp chí đã được Hội đồng Giáo sư ngành Y đưa vào danh sách các tạp chí khoa học Y học được tính điểm công trình 0-0,5 điểm cho một bài báo đăng.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Năm 2020 Tạp chí Y Dược học Cần Thơ đã được phê duyệt vào danh mục của các Hội đồng Giáo sư ngành Dược học được tính điểm công trình 0-0,5 điểm cho một bài báo đăng.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Tạp chí Y Dược học Cần Thơ ra 12 số\u002Fnăm, 180-200 trang\u002Fsố.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Từ tháng 12\u002F2022 Tạp chí Y Dược học Cần Thơ là thành viên của hệ thống Crossref và từ tháng 01\u002F2023 tạp chí thực hiện bình duyệt online kín 2 chiều nhằm tăng tính minh bạch, tin cậy của các công trình nghiên cứu khoa học và đảm bảo tốt nhất chất lượng khoa học của bài viết.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Tôn chỉ, mục đích và phạm vi của tạp chí\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Tôn chỉ và mục đích hoạt động của tạp chí: xuất bản nhằm mục đích phổ biến kết quả từ các đề tài nghiên cứu khoa học; giao lưu trao đổi khoa học, chia sẻ kinh nghiệm, học tập, đồng thời cập nhật thông tin khoa học mới trong các lĩnh vực y, sinh, dược học trong và ngoài nước.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Phạm vi của tạp chí: Tạp chí xuất bản được chia thành 3 chuyên mục: (i) Bài báo nghiên cứu khoa học là kết quả công trình nghiên cứu khoa học có giá trị đã được triển khai nghiên cứu, (ii) Bài tổng quan y, sinh, dược học: phục vụ mục tiêu đào tạo liên tục trong lĩnh vực y, sinh, dược học; nhằm hệ thống hóa những kiến thức kinh điển và hiện đại; (iii) Thông tin cập nhật kiến thức mới về y, sinh, dược học trong nước và trên thế giới.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Chính sách truy cập mở\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Tạp chí Y Dược học Cần Thơ áp dụng chính sách truy cập mở đối với các bài báo đã xuất bản đến với độc giả, nhằm mở rộng cơ hội tiếp cận các kết quả nghiên cứu chất lượng cao và tăng cường trao đổi kiến thức. Tạp chí đăng tải trực tuyến (miễn phí) toàn văn các bài báo được công bố trên website của Tạp chí (https:\u002F\u002Ftapchi.ctump.edu.vn).\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Đạo đức xuất bản\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Tạp chí Y Dược học Cần Thơ cam kết tuân thủ đạo đức xuất bản phù hợp với các hướng dẫn và tiêu chuẩn của the Committee on Publication Ethics (COPE), tuân thủ các nguyên tắc của COPE’s Core Practices, Best Practices Guidelines for Journal Editors và Guidelines on Good Publication Practices.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Bản thảo bài báo chỉ được chấp nhận khi được tác giả chịu trách nhiệm chính cam kết các nội dung sau: Các nội dung của bản thảo chưa được đăng tải toàn bộ hoặc một phần ở các tạp chí khác; Tất cả các tác giả đều có đóng góp một cách đáng kể vào quá trình nghiên cứu hoặc chuẩn bị bản thảo và cùng chịu trách nhiệm về các nội dung của bản thảo; Tuân thủ các biện pháp đảm bảo đạo đức nghiên cứu (ví dụ thỏa thuận đồng ý tham gia nghiên cứu).\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Cam kết bảo mật\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Tạp chí cam kết thực hiện và tuân thủ các quy định của luật và các văn bản hướng dẫn liên quan đến bảo mật thông tin cá nhân trên không gian mạng. Các thông tin mà người dùng (tác giả, độc giả, biên tập viên, người phản biện) nhập vào các biểu mẫu trên Hệ thống Quản lý xuất bản trực tuyến của tạp chí chỉ được sử dụng vào các mục đích đã được tuyên bố rõ ràng và sẽ không được cung cấp cho bất kỳ bên thứ ba nào khác, hay dùng vào bất kỳ mục đích nào khác.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Phí gửi bài\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Lệ phí gửi đăng bài: 1.000.000đ\u002Fbài báo\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Lệ phí gửi đăng nhanh: 1.500.000đ\u002Fbài báo\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Đối với tác giả là cán bộ viên chức thuộc Trường Đại học Y Dược Cần Thơ thì được hỗ trợ 50% lệ phí gửi đăng bài.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Đối với sinh viên thực hiện đề tài nghiên cứu khoa học cấp trường được hỗ trợ 100% lệ phí đăng bài ( Tác giả gửi đính kèm “ Quyết định về việc giao tổ chức thực hiện đề tài nghiên cứu khoa học cấp Trường của sinh viên”).\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Hình thức nộp lệ phí:\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">1. Tiền mặt:\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Nộp trực tiếp tại Phòng Tài chính - Kế toán, Trường Đại học Y Dược Cần Thơ, số 179 Nguyễn Văn Cừ, P. An Khánh, Q. Ninh Kiều, thành phố Cần Thơ.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">2. Chuyển khoản:\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Tên Tài khoản: Trường ĐHYD Cần Thơ, Số TK: 0111000115668, tại ngân hàng Vietcombank chi nhánh Cần Thơ.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Thời gian: Áp dụng từ ngày 01\u002F02\u002F2023.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">* Phí gửi bài không được hoàn trả khi bài viết bị từ chối hoặc tác giả xin rút bài viết.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Quy trình phản biện bài báo\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Tạp chí Y Dược học Cần Thơ thực hiện quy trình phản biện kín hai chiều nghiêm ngặt. Danh tính của những người phản biện không được tiết lộ cho các tác giả và ngược lại. Quy trình thẩm định bài báo đăng gồm các bước sau:\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Tiếp nhận bản thảo\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Tác giả liên hệ gửi bản thảo đến Tạp chí qua hệ thống trực tuyến tại website: https:\u002F\u002Ftapchi.ctump.edu.vn. Hướng dẫn về cách đăng ký, gửi bài và chuẩn bị bản thảo được cung cấp trên website của Tạp chí.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Sàng lọc sơ bộ\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Sau khi Tòa soạn nhận được bài báo của tác giả, Ban Thư ký sẽ tiến hành kiểm tra sơ bộ bài báo (các yêu cầu về nội dung và hình thức). Những bài báo không đúng quy cách hoặc có nội dung không phù hợp hoặc vi phạm bản quyền sẽ bị từ chối (Ban Thư ký thông báo phản hồi đến tác giả trong vòng 1 tuần). Những bài báo đủ điều kiện, được Ban Thư ký tòa soạn chuyển đến Ban Biên tập có cùng chuyên môn với nội dung bài báo để đề xuất người phản biện. Thời gian kể từ khi Ban Biên tập nhận bài báo đến khi đề xuất người phản biện bài báo chậm nhất là 5 ngày.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Vòng phản biện\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">1. Ban Thư ký gửi bài và yêu cầu phản biện đến 02 phản biện độc lập.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">2. Các phản biện gởi nhận xét cho Ban Thư ký. Thời gian từ khi gửi bài cho phản biện đến khi nhận ý kiến của phản biện tối đa là 20 ngày.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Xử ký kết quả phản biện\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">1. Nếu ý kiến đồng ý cho đăng và không cần chỉnh sửa, Ban Thư ký tiếp tục đăng bài theo qui trình.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">2. Nếu ý kiến đồng ý đăng và cần chỉnh sửa, Ban Thư ký sẽ thông tin đến tác giả chỉnh sửa theo yêu cầu của người phản biện. Thời gian chỉnh sửa và gửi lại kéo dài không quá 2 tuần, từ khi tác giả bài báo nhận được thông tin (Quá trình này có thể lặp lại tối đa 2 lần\u002F1 bài báo). Khi có sự thống nhất, đồng ý của người phản biện; bài báo được tiếp tục đăng theo qui trình.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">3. Những bài báo có chất lượng không đạt yêu cầu, cả 2 phản biện không đồng ý cho đăng sẽ bị Tòa soạn từ chối đăng.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Xuất bản\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">1. Ban Thư ký tổng hợp các bản thảo đã được tác giả hoàn thiện sau thẩm định trình Ban Biên tập xem xét, Tổng Biên tập phê duyệt, quyết định bài đăng theo các tiêu chí: sự phù hợp nội dung với tôn chỉ và mục đích, thể loại bài viết (ưu tiên các bài có bài có nghiên cứu chuyên sâu, hàm lượng khoa học cao), đóng góp mới bài báo, bài báo được ưu tiên đăng trong số gần nhất của Tạp chí theo thứ tự: tính thời sự, chất lượng bài báo và thời gian gửi bài.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">2. Ban Biên tập và Ban Thư ký biên tập bản thảo, chế bản, đọc rà soát lỗi. Thời gian hoàn thành từ 10-15 ngày.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">3. Ban Thư ký có trách nhiệm thông báo cho tác giả bài báo (bằng e-mail) về tình hình phê duyệt bài báo, thời gian, số kỳ, tập xuất bản bài báo theo qui định.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">4. Danh sách bài báo theo số Tạp chí được in ấn và phát hành trong năm định kỳ được công bố chính thức trên website: https:\u002F\u002Ftapchi.ctump.edu.vn\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>",{"VOID":490},"wcQ1uqwAAAAJ","2023-05-30T08:17:21.868+00:00",[],[494],{"id":495,"createTime":28,"updateTime":28,"relativeEntities":496,"slug":28,"properties":497,"entityType":28,"verifyStatus":28,"verifyTime":28,"verifyNote":28,"languages":28,"translateLanguages":28,"viewCount":28,"url":507,"parentIds":508,"statistic":28},"6413896b-eca9-442b-a73f-182a58a0ce40",[],{"title":498,"address":501,"country":504,"abbreviation":505},{"EN":499,"VI":500},"Can Tho University of Medicine and Pharmacy","Trường Đại học Y Dược Cần Thơ",{"EN":502,"VI":503},"No 179, Nguyen Van Cu street, An Khanh ward, Ninh Kieu district, Can Tho city, Vietnam","Số 179, đường Nguyễn Văn Cừ, phường An Khánh, quận Ninh Kiều, thành phố Cần Thơ, Việt Nam",{"VOID":15},{"VOID":506},"ctump","http:\u002F\u002Fwww.ctump.edu.vn\u002F",[],[],"https:\u002F\u002Ftapchi.ctump.edu.vn\u002Findex.php\u002Fctump",{"impactFactor":32,"impactFactorByYear":512,"i10Index":32,"i10IndexLast5Year":32,"totalPublication":514,"totalPublicationByYear":515,"totalCitation":520,"totalCitationByYear":521,"totalCitationPerPublication":108,"totalCitationPerPublicationByYear":523,"hindexLast5Year":45,"hindex":45},{"2022":513,"2023":111,"2024":106},0.01,1556,{"2020":47,"2021":516,"2022":517,"2023":518,"2024":519,"2025":122},57,306,801,358,161,{"2021":146,"2022":280,"2023":522},99,{"2021":524,"2022":318,"2023":104},0.23,{"impactFactor":28,"impactFactorByYear":28,"i10Index":123,"i10IndexLast5Year":123,"totalPublication":526,"totalPublicationByYear":527,"totalCitation":526,"totalCitationByYear":528,"totalCitationPerPublication":40,"totalCitationPerPublicationByYear":531,"hindexLast5Year":49,"hindex":49},476,{"0":205,"2019":123,"2021":139,"2022":459,"2023":451,"2024":357,"2025":49,"2026":48},{"2021":42,"2022":123,"2023":161,"2024":529,"2025":360,"2026":530},136,83,{"2021":105,"2022":513,"2023":532,"2024":127,"2025":533,"2026":534},0.62,25.43,13.83,{"id":536,"createTime":537,"updateTime":382,"relativeEntities":538,"slug":539,"properties":540,"entityType":25,"verifyStatus":26,"verifyTime":28,"verifyNote":28,"languages":552,"translateLanguages":28,"viewCount":133,"subjectFields":553,"manageAffiliations":554,"indexDatabases":555,"url":556,"thumbnailPath":557,"statistic":558,"gsStatistic":594,"type":55,"analyzePriority":28},"6984a56a-db70-403b-9cc4-4013e1ceaffa","2023-05-09T06:47:40.346+00:00",[],"T%E1%BA%A1p%20ch%C3%AD%20Nghi%C3%AAn%20c%E1%BB%A9u%20n%C6%B0%E1%BB%9Bc%20ngo%C3%A0i",{"country":541,"issn":542,"title":544,"introduce":547,"gsId":550},{"VOID":15},{"VOID":543},"25252445",{"EN":545,"VI":546},"VNU Journal of Foreign Studies","Tạp chí Nghiên cứu nước ngoài",{"EN":548,"VI":549},"{\"ops\":[{\"insert\":\"\\n\\nThe \\n\"},{\"attributes\":{\"italic\":true},\"insert\":\"VNU Journal of Science\"},{\"insert\":\"\\n was established in 1985 for the publication of national and international research papers in all fields of natural sciences and technology, social sciences and humanities. 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SCIE","scie",[942,813],"SCIE","https:\u002F\u002Fwww.scopus.com\u002Fsourceid\u002Fnull",[945,946],"49fc4fe4-851c-4795-9e04-8a0288bc0b8b","a88c02c1-1408-46e6-b021-2667e298d14d",{"impactFactor":32,"impactFactorByYear":948,"i10Index":954,"i10IndexLast5Year":600,"totalPublication":955,"totalPublicationByYear":956,"totalCitation":965,"totalCitationByYear":966,"totalCitationPerPublication":982,"totalCitationPerPublicationByYear":983,"hindexLast5Year":151,"hindex":151},{"2012":440,"2013":172,"2014":949,"2015":173,"2016":950,"2017":120,"2018":171,"2019":951,"2020":952,"2021":293,"2022":953,"2023":115},0.93,0.7,0.8,0.81,0.56,272,2718,{"2006":352,"2007":278,"2008":140,"2009":130,"2010":159,"2011":158,"2012":957,"2013":958,"2014":959,"2015":960,"2016":154,"2017":430,"2018":961,"2019":578,"2020":571,"2021":962,"2022":963,"2023":964,"2024":600},101,141,181,217,162,338,266,222,15905,{"2006":967,"2007":968,"2008":969,"2009":970,"2010":328,"2011":971,"2012":972,"2013":973,"2014":974,"2015":975,"2016":976,"2017":977,"2018":978,"2019":979,"2020":980,"2021":981,"2022":961},1004,1897,1155,169,1388,1289,1385,1665,1124,891,795,982,709,513,490,5.85,{"2006":984,"2007":985,"2008":986,"2009":987,"2010":367,"2011":988,"2012":989,"2013":990,"2014":627,"2015":991,"2016":992,"2017":376,"2018":377,"2019":635,"2020":343,"2021":342,"2022":119},30.42,55.79,44.42,8.45,21.03,12.76,9.82,5.18,8.49,{"meta":994,"data":996},{"total":995},"2733",[997,1131,1347,1474,1681,1799,2020,2123,2440,2666],{"id":998,"createTime":999,"updateTime":999,"relativeEntities":1000,"slug":28,"properties":1001,"entityType":1010,"verifyStatus":880,"verifyTime":28,"verifyNote":28,"languages":28,"translateLanguages":28,"viewCount":32,"primaryUrl":1011,"fullTextUrl":28,"authors":1012,"publicationType":1071,"publisherRelationship":1072,"citationCount":28,"citationInfo":28,"publishDate":1127,"publishYear":1128,"citationAnalyzeStatus":880,"lastCitationAnalyze":28,"indexDatabases":1129,"openAccess":28,"references":28,"isForceReanalyzing":1130},"00e76649-54c6-4ba8-b9f8-59a53c2ffc76","2024-01-20T14:39:40.528+00:00",[],{"abstract":1002,"title":1004,"references":1006,"doi":1008},{"EN":1003},"Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive, neurodegenerative disease associated with a wide variety of progressive neurological manifestations. Miglustat is indicated for the treatment of progressive neurological manifestations in both adults and children. Since approval in 2009 there has been a vast growth in clinical experience with miglustat. The effectiveness of miglustat has been assessed using a range of measures. Comprehensive review of published data from studies of cellular neuropathological markers and structural neurological indices in the brain, clinical impairment\u002Fdisability, specific clinical neurological manifestations, and patient survival. Cranial diffusion tensor imaging and magnetic resonance spectroscopy studies have shown reduced levels of choline (a neurodegeneration marker), and choline\u002FN-acetyl aspartate ratio (indicating increased neuronal viability) in the brain during up to 5 years of miglustat therapy, as well as a slowing of reductions in fractional anisotropy (an axonal\u002Fmyelin integrity marker). A 2-year immunoassay study showed significant reductions in CSF-calbindin during treatment, indicating reduced cerebellar Purkinje cell loss. Magnetic resonance imaging studies have demonstrated a protective effect of miglustat on cerebellar and subcortical structure that correlated with clinical symptom severity. Numerous cohort studies assessing core neurological manifestations (impaired ambulation, manipulation, speech, swallowing, other) using NP-C disability scales indicate neurological stabilization over 2–8 years, with a trend for greater benefits in patients with older (non-infantile) age at neurological onset. A randomized controlled trial and several cohort studies have reported improvements or stabilization of saccadic eye movements during 1–5 years of therapy. Swallowing was also shown to improve\u002Fremain stable during the randomized trial (up to 2 years), as well as in long-term observational cohorts (up to 6 years). A meta-analysis of dysphagia – a potent risk factor for aspiration pneumonia and premature death in NP-C – demonstrated a survival benefit with miglustat due to improved\u002Fstabilized swallowing function. The effects of miglustat on neurological NP-C manifestations has been assessed using a range of approaches, with benefits ranging from cellular changes in the brain through to visible clinical improvements and improved survival.",{"EN":1005},"Miglustat in Niemann-Pick disease type C patients: a review",{"VOID":1007},"Vanier MT. Niemann-pick disease type C. Orphanet J Rare Dis. 2010;5:16.\nCarstea ED, Morris JA, Coleman KG, Loftus SK, Zhang D, Cummings C, et al. Niemann-pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science. 1997;277:228–31.\nNaureckiene S, Sleat DE, Lackland H, Fensom A, Vanier MT, Wattiaux R, et al. Identification of HE1 as the second gene of Niemann-pick C disease. Science. 2000;290:2298–301.\nHendriksz CJ, Anheim M, Bauer P, Bonnot O, Chakrapani A, Corvol JC, et al. The hidden Niemann-pick type C patient: clinical niches for a rare inherited metabolic disease. Curr Med Res Opin. 2017;33:877–90.\nPatterson MC, Hendriksz CJ, Walterfang M, Sedel F, Vanier MT, Wijburg F. For the NP-C working group. Recommendations for the diagnosis and management of Niemann-pick disease type C: an update. Mol Genet Metab. 2012;106:330–44.\nWraith JE, Baumgartner MR, Bembi B, Covanis A, Levade T, Mengel E, et al. For the NP-C working group. Recommendations on the diagnosis and management of Niemann-pick disease type C. Mol Genet Metab. 2009;98:152–65.\nWassif CA, Cross JL, Iben J, Sanchez-Pulido L, Cougnoux A, Platt FM, et al. High incidence of unrecognized visceral\u002Fneurological late-onset Niemann-pick disease, type C1, predicted by analysis of massively parallel sequencing data sets. Genet Med. 2016;18:41–8.\nBauer P, Balding DJ, Klunemann HH, Linden DE, Ory DS, Pineda M, et al. Genetic screening for Niemann-pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study. Hum Mol Genet. 2013;22:4349–56.\nSchicks J, Muller Vom Hagen J, Bauer P, Beck-Wodl S, Biskup S, Krageloh-Mann I, et al. Niemann-pick type C is frequent in adult ataxia with cognitive decline and vertical gaze palsy. Neurology. 2013;80:1169–70.\nImrie J, Heptinstall L, Knight S, Strong K. Observational cohort study of the natural history of Niemann-pick disease type C in the UK: a 5-year update from the UK clinical database. BMC Neurol. 2015;15:257.\nJahnova H, Dvorakova L, Vlaskova H, Hulkova H, Poupetova H, Hrebicek M, Jesina P. Observational, retrospective study of a large cohort of patients with Niemann-pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years. Orphanet J Rare Dis. 2014;9:140.\nJiang X, Sidhu R, Mydock-McGrane L, Hsu FF, Covey DF, Scherrer DE, et al. Development of a bile acid-based newborn screen for Niemann-pick disease type C. Sci Transl Med. 2016;8:337ra363.\nJiang X, Sidhu R, Porter FD, Yanjanin NM, Speak AO, te Vruchte DT, et al. A sensitive and specific LC-MS\u002FMS method for rapid diagnosis of Niemann-pick C1 disease from human plasma. J Lipid Res. 2011;52:1435–45.\nGiese AK, Mascher H, Grittner U, Eichler S, Kramp G, Lukas J, et al. A novel, highly sensitive and specific biomarker for Niemann-pick type C1 disease. Orphanet J Rare Dis. 2015;10:78.\nPorter FD, Scherrer DE, Lanier MH, Langmade SJ, Molugu V, Gale SE, et al. Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-pick C1 disease. Sci Transl Med. 2010;2:56ra81.\nPatterson MC, Clayton P, Gissen P, Anheim M, Bauer P, Bonnot O, et al. Recommendations for the detection and diagnosis of Niemann-pick disease type C: an update. Neurol Clin Pract. 2017;7:499–511.\nVanier MT, Gissen P, Bauer P, Coll MJ, Burlina A, Hendriksz CJ, et al. Diagnostic tests for Niemann-pick disease type C (NP-C): a critical review. Mol Genet Metab. 2016;118:244–54.\nWijburg FA, Sedel F, Pineda M, Hendriksz CJ, Fahey M, Walterfang M, et al. Development of a suspicion index to aid diagnosis of Niemann-pick disease type C. Neurology. 2012;78:1560–7.\nPineda M, Mengel E, Jahnova H, Heron B, Imrie J, Lourenco CM, et al. A suspicion index to aid screening of early-onset Niemann-pick disease type C (NP-C). BMC Pediatr. 2016;16:107.\nSynofzik M, Fleszar Z, Schols L, Just J, Bauer P, Torres Martin JV, Kolb S. Identifying Niemann-pick type C in early-onset ataxia: two quick clinical screening tools. J Neurol. 2016;263:1911–8.\nWraith JE, Guffon N, Rohrbach M, Hwu WL, Korenke GC, Bembi B, et al. Natural history of Niemann-pick disease type C in a multicentre observational retrospective cohort study. Mol Genet Metab. 2009;98:250–4.\nPatterson MC, Mengel E, Wijburg FA, Muller A, Schwierin B, Drevon H, et al. Disease and patient characteristics in NP-C patients: findings from an international disease registry. Orphanet J Rare Dis. 2013;8:12.\nGarver WS, Francis GA, Jelinek D, Shepherd G, Flynn J, Castro G, et al. The national Niemann-pick C1 disease database: report of clinical features and health problems. Am J Med Genet A. 2007;143A:1204–11.\nIturriaga C, Pineda M, Fernandez-Valero EM, Vanier MT, Coll MJ. Niemann-pick C disease in Spain: clinical spectrum and development of a disability scale. J Neurol Sci. 2006;249:1–6.\nBonnot O, Gama CS, Mengel E, Pineda M, Vanier MT, Watson L, et al. Psychiatric and neurological symptoms in patients with Niemann-pick disease type C (NP-C): findings from the international NPC registry. J Inherit Metab Dis. 2016;39:S62–3.\nBonnot O, Klunemann HH, Velten C, Torres Martin JV, Walterfang M. Systematic review of psychiatric signs in Niemann-pick disease type C. World J Biological Psych. 2018:1–13.\nSevin M, Lesca G, Baumann N, Millat G, Lyon-Caen O, Vanier MT, Sedel F. The adult form of Niemann-pick disease type C. Brain. 2007;130:120–33.\nImrie J, Vijayaraghaven S, Whitehouse C, Harris S, Heptinstall L, Church H, et al. Niemann-pick disease type C in adults. J Inherit Metab Dis. 2002;25:491–500.\nCrocker AC, Farber S. Niemann-pick disease: a review of eighteen patients. Medicine (Baltimore). 1958;37:1–95.\nSylvain M, Arnold DL, Scriver CR, Schreiber R, Shevell MI. Magnetic resonance spectroscopy in Niemann-pick disease type C: correlation with diagnosis and clinical response to cholestyramine and lovastatin. Pediatr Neurol. 1994;10:228–32.\nPatterson MC, Di Bisceglie AM, Higgins JJ, Abel RB, Schiffmann R, Parker CC, et al. The effect of cholesterol-lowering agents on hepatic and plasma cholesterol in Niemann-pick disease type C. Neurology. 1993;43:61–4.\nWalterfang M, Fahey M, Desmond P, Wood A, Seal ML, Steward C, et al. White and gray matter alterations in adults with Niemann-pick disease type C: a cross-sectional study. Neurology. 2010;75:49–56.\nLloyd-Evans E, Platt FM. Lipids on trial: the search for the offending metabolite in Niemann-pick type C disease. Traffic. 2010;11:419–28.\nVanier MT. Complex lipid trafficking in Niemann-pick disease type C. J Inherit Metab Dis. 2015;38:187–99.\nPlatt FM, Neises GR, Dwek RA, Butters TD. N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis. J Biol Chem. 1994;269:8362–5.\nMiglustat (Zavesca) Summary of Product Characteristics. http:\u002F\u002Fwww.ema.europa.eu\u002Fema\u002Findex.jsp?curl=pages\u002Fmedicines\u002Fhuman\u002Forphans\u002F2009\u002F11\u002Fhuman_orphan_000562.jsp&mid=WC0b01ac058001d12b&source=homeMedSearch. Accessed 24 May 2018.\nTreiber A, Morand O, Clozel M. The pharmacokinetics and tissue distribution of the glucosylceramide synthase inhibitor miglustat in the rat. Xenobiotica. 2007;37:298–314.\nJeyakumar M, Dwek RA, Butters TD, Platt FM. Storage solutions: treating lysosomal disorders of the brain. Nat Rev Neurosci. 2005;6:713–25.\nZervas M, Somers KL, Thrall MA, Walkley SU. Critical role for glycosphingolipids in Niemann-pick disease type C. Curr Biol. 2001;11:1283–7.\nLachmann RH, te Vruchte D, Lloyd-Evans E, Reinkensmeier G, Sillence DJ, Fernandez-Guillen L, Dwek RA, et al. Treatment with miglustat reverses the lipid-trafficking defect in Niemann-pick disease type C. Neurobiol Dis. 2004;16:654–8.\nPatterson MC, Vecchio D, Jacklin E, Abel L, Chadha-Boreham H, Luzy C, et al. Long-term miglustat therapy in children with Niemann-pick disease type C. J Child Neurol. 2010;25:300–5.\nPineda M, Wraith JE, Mengel E, Sedel F, Hwu WL, Rohrbach M, et al. Miglustat in patients with Niemann-pick disease type C (NP-C): a multicenter observational retrospective cohort study. Mol Genet Metab. 2009;98:243–9.\nWraith JE, Vecchio D, Jacklin E, Abel L, Chadha-Boreham H, Luzy C, et al. Miglustat in adult and juvenile patients with Niemann-pick disease type C: long-term data from a clinical trial. Mol Genet Metab. 2010;99:351–7.\nHeron B, Valayannopoulos V, Baruteau J, Chabrol B, Ogier H, Latour P, et al. Miglustat therapy in the French cohort of paediatric patients with Niemann-pick disease type C. Orphanet J Rare Dis. 2012;7:36.\nPineda M, Perez-Poyato MS, O'Callaghan M, Vilaseca MA, Pocovi M, Domingo R, et al. Clinical experience with miglustat therapy in pediatric patients with Niemann-pick disease type C: a case series. Mol Genet Metab. 2010;99:358–66.\nPatterson MC, Mengel E, Vanier MT, Schwierin B, Muller A, Cornelisse P, et al. Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-pick disease type C: an observational cohort study. Orphanet J Rare Dis. 2015;10:65.\nKarimzadeh P, Tonekaboni SH, Ashrafi MR, Shafeghati Y, Rezayi A, Salehpour S, et al. Effects of miglustat on stabilization of neurological disorder in niemann-pick disease type C: Iranian pediatric case series. J Child Neurol. 2013;28:1599–606.\nFecarotta S, Romano A, Della Casa R, Del Giudice E, Bruschini D, Mansi G, et al. Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-pick disease type C. Orphanet J Rare Dis. 2015;10:22.\nFrankenburg WK, Dodds JB. The Denver developmental screening test. J Pediatr. 1967;71:181–91.\nBayley N. Bayley scales of infant and toddler development. 3rd ed. PsychCorp: San Antonio; 2006.\nFecarotta S, Amitrano M, Romano A, Della Casa R, Bruschini D, Astarita L, et al. The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-pick disease type C after therapy with miglustat. Am J Med Genet A. 2011;155A:540–7.\nChien YH, Peng SF, Yang CC, Lee NC, Tsai LK, Huang AC, et al. Long-term efficacy of miglustat in paediatric patients with Niemann-pick disease type C. J Inherit Metab Dis. 2013;36:129–37.\nChien YH, Lee NC, Tsai LK, Huang AC, Peng SF, Chen SJ, Hwu WL. Treatment of Niemann-pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year. J Inherit Metab Dis. 2007;30:826.\nAbel LA, Walterfang M, Stainer MJ, Bowman EA, Velakoulis D. Longitudinal assessment of reflexive and volitional saccades in Niemann-pick type C disease during treatment with miglustat. Orphanet J Rare Dis. 2015;10:160.\nAbel LA, Bowman EA, Velakoulis D, Fahey MC, Desmond P, Macfarlane MD, et al. Saccadic eye movement characteristics in adult Niemann-pick type C disease: relationships with disease severity and brain structural measures. PLoS One. 2012;7:e50947.\nPatterson MC, Vecchio D, Prady H, Abel L, Wraith JE. Miglustat for treatment of Niemann-pick C disease: a randomised controlled study. Lancet Neurol. 2007;6:765–72.\nBowman EA, Walterfang M, Abel L, Desmond P, Fahey M, Velakoulis D. Longitudinal changes in cerebellar and subcortical volumes in adult-onset Niemann-pick disease type C patients treated with miglustat. J Neurol. 2015;262:2106–14.\nMasingue M, Adanyeguh I, Nadjar Y, Sedel F, Galanaud D, Mochel F. Evolution of structural neuroimaging biomarkers in a series of adult patients with Niemann-pick type C under treatment. Orphanet J Rare Dis. 2017;12:22.\nBenussi A, Cotelli MS, Cosseddu M, Bertasi V, Turla M, Salsano E, et al. Preliminary results on long-term potentiation-like cortical plasticity and cholinergic dysfunction after miglustat treatment in Niemann-pick disease type C. JIMD Rep. 2017;36:19–27.\nFolstein MF, Folstein SE, McHugh PR. “Mini-mental state”. A practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res. 1975;12:189–98.\nPatterson M, Porter F, Vaurio R, Brown T. Longitudinal study of cognition in subjects with Niemann-pick disease type C [abstract 101]. Mol Genet Metab. 2009;96:534.\nZervas M, Dobrenis K, Walkley SU. Neurons in Niemann-pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations. J Neuropathol Exp Neurol. 2001;60:49–64.\nStein VM, Crooks A, Ding W, Prociuk M, O'Donnell P, Bryan C, et al. Miglustat improves purkinje cell survival and alters microglial phenotype in feline Niemann-pick disease type C. J Neuropathol Exp Neurol. 2012;71:434–48.\nLloyd-Evans E, Pelled D, Riebeling C, Bodennec J, de-Morgan A, Waller H, et al. Glucosylceramide and glucosylsphingosine modulate calcium mobilization from brain microsomes via different mechanisms. J Biol Chem. 2003;278:23594–9.\nLloyd-Evans E, Morgan AJ, He X, Smith DA, Elliot-Smith E, Sillence DJ, et al. Niemann-pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium. Nat Med. 2008;14:1247–55.\nLloyd-Evans E, Platt FM. Lysosomal ca(2+) homeostasis: role in pathogenesis of lysosomal storage diseases. Cell Calcium. 2011;50:200–5.\nBradbury A, Bagel J, Sampson M, Farhat N, Ding W, Swain G, et al. Cerebrospinal fluid calbindin d concentration as a biomarker of cerebellar disease progression in Niemann-pick type C1 disease. J Pharmacol Exp Ther. 2016;358:254–61.\nHeitner R, Elstein D, Aerts J, Weely S, Zimran A. Low-dose N-butyldeoxynojirimycin (OGT 918) for type I Gaucher disease. Blood Cells Mol Dis. 2002;28:127–33.\nCox T, Lachmann R, Hollak C, Aerts J, van Weely S, Hrebicek M, et al. Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet. 2000;355:1481–5.\nWalkley SU, Suzuki K. Consequences of NPC1 and NPC2 loss of function in mammalian neurons. Biochim Biophys Acta. 2004;1685:48–62.\nSuzuki H, Sakiyama T, Harada N, Abe M, Tadokoro M. Pathologic changes of glial cells in murine model of Niemann-pick disease type C: immunohistochemical, lectin-histochemical and ultrastructural observations. Pediatr Int. 2003;45:1–4.\nSarna JR, Larouche M, Marzban H, Sillitoe RV, Rancourt DE, Hawkes R. Patterned Purkinje cell degeneration in mouse models of Niemann-pick type C disease. J Comp Neurol. 2003;456:279–91.\nElleder M, Jirasek A. Neuropathology of various types of Niemann-pick disease. Acta Neuropathol. 1981;7:201–3.\nGerman DC, Quintero EM, Liang CL, Ng B, Punia S, Xie C, Dietschy JM. Selective neurodegeneration, without neurofibrillary tangles, in a mouse model of Niemann-pick C disease. J Comp Neurol. 2001;433:415–25.\nAuer I, Schmidt M, Lee V-Y, Curry B, Suzuki K, Shin R-W, et al. Paired helical filament tau (PHFtau) in Niemann-pick type C disease is similar to PHFtau in Alzheimer's disease. Acta Neuropathol. 1995;90:547–51.\nSuzuki K, Parker CC, Pentchev PG, Katz D, Ghetti B, D'Agostino AN, Carstea ED. Neurofibrillary tangles in Niemann-pick disease type C. Acta Neuropathol. 1995;89:227–38.\nSaito Y, Suzuki K, Nanba E, Yamamoto T, Ohno K, Murayama S. Niemann-pick type C disease: accelerated neurofibrillary tangle formation and amyloid beta deposition associated with apolipoprotein E epsilon 4 homozygosity. Ann Neurol. 2002;52:351–5.\nGropman AL. Expanding the diagnostic and research toolbox for inborn errors of metabolism: the role of magnetic resonance spectroscopy. Mol Genet Metab. 2005;86:2–9.\nGalanaud D, Tourbah A, Lehericy S, Leveque N, Heron B, Billette de Villemeur T, et al. 24 month-treatment with miglustat of three patients with Niemann-pick disease type C: follow up using brain spectroscopy. Mol Genet Metab. 2009;96:55–8.\nSedel F, Chabrol B, Audoin B, Kaphan E, Tranchant C, Burzykowski T, et al. Normalisation of brain spectroscopy findings in Niemann-pick disease type C patients treated with miglustat. J Neurol. 2016;263:927–36.\nHuang JY, Peng SF, Yang CC, Yen KY, Tzen KY, Yen RF. Neuroimaging findings in a brain with Niemann-pick type C disease. J Formos Med Assoc. 2011;110:537–42.\nAbel LA, Walterfang M, Fietz M, Bowman EA, Velakoulis D. Saccades in adult Niemann-pick disease type C reflect frontal, brainstem, and biochemical deficits. Neurology. 2009;72:1083–6.\nWalterfang M, Macfarlane MD, Looi JC, Abel L, Bowman E, Fahey MC, et al. Pontine-to-midbrain ratio indexes ocular-motor function and illness stage in adult Niemann-pick disease type C. Eur J Neurol. 2012;19:462–7.\nWalterfang M, Fahey M, Abel L, Fietz M, Wood A, Bowman E, et al. Size and shape of the corpus callosum in adult Niemann-pick type C reflects state and trait illness variables. AJNR Am J Neuroradiol. 2011;32:1340–6.\nDavies-Thompson J, Vavasour I, Scheel M, Rauscher A, Barton JJ. Reduced myelin water in the white matter tracts of patients with Niemann-pick disease type C. AJNR Am J Neuroradiol. 2016;37:1487–9.\nTrouard TP, Heidenreich RA, Seeger JF, Erickson RP. Diffusion tensor imaging in Niemann-pick type C disease. Pediatr Neurol. 2005;33:325–30.\nScheel M, Abegg M, Lanyon LJ, Mattman A, Barton JJ. Eye movement and diffusion tensor imaging analysis of treatment effects in a Niemann-pick type C patient. Mol Genet Metab. 2010;99:291–5.\nLau MW, Lee RW, Miyamoto R, Jung ES, Yanjanin Farhat N, Yoshida S, et al. Role of diffusion tensor imaging in prognostication and treatment monitoring in Niemann-pick disease type C1. Diseases. 2016;4:E29.\nBowman EA, Velakoulis D, Desmond P, Walterfang M. Longitudinal changes in white matter fractional anisotropy in adult-onset Niemann-pick disease type C patients treated with miglustat. JIMD Rep. 2017;39:39–43.\nYanjanin NM, Velez JI, Gropman A, King K, Bianconi SE, Conley SK, et al. Linear clinical progression, independent of age of onset, in Niemann-pick disease, type C. Am J Med Genet B Neuropsychiatr Genet. 2010;153B:132–40.\nCologna SM, Jiang XS, Backlund PS, Cluzeau CV, Dail MK, Yanjanin NM, et al. Quantitative proteomic analysis of Niemann-pick disease, type C1 cerebellum identifies protein biomarkers and provides pathological insight. PLoS One. 2012;7:e47845.\nManganelli F, Dubbioso R, Iodice R, Topa A, Dardis A, Russo CV, et al. Central cholinergic dysfunction in the adult form of Niemann pick disease type C: a further link with Alzheimer's disease? J Neurol. 2014;261:804–8.\nHassan SS, Trenado C, Elben S, Schnitzler A, Groiss SJ. Alteration of cortical excitability and its modulation by Miglustat in Niemann-pick disease type C. J Clin Neurosci. 2018;47:214–7.\nStrupp M, Kremmyda O, Adamczyk C, Bottcher N, Muth C, Yip CW, Bremova T. Central ocular motor disorders, including gaze palsy and nystagmus. J Neurol. 2014;261(Suppl 2):S542–58.\nSolomon D, Winkelman AC, Zee DS, Gray L, Buttner-Ennever J. Niemann-pick type C disease in two affected sisters: ocular motor recordings and brain-stem neuropathology. Ann N Y Acad Sci. 2005;1039:436–45.\nRottach KG, von Maydell RD, Das VE, Zivotofsky AZ, Discenna AO, Gordon JL, et al. Evidence for independent feedback control of horizontal and vertical saccades from Niemann-pick type C disease. Vision Res. 1997;37:3627–38.\nAbe K, Sakai N. Patient with Niemann-pick disease type C: over 20 years' follow-up. BMJ Case Rep. 2017;2017\nHauser SL, Dawson DM, Lehrich JR, Beal MF, Kevy SV, Propper RD, et al. Intensive immunosuppression in progressive multiple sclerosis. A randomized, three-arm study of high-dose intravenous cyclophosphamide, plasma exchange, and ACTH. N Engl J Med. 1983;308:173–80.\nCuisset JM, Sukno S, Trauffler A, Latour P, Dobbelaere D, Michaud L, Vallee L. Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann-pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, ophthalmoplegia, and cerebellar involvement: a case report. J Med Case Reports. 2016;10:241.\nWebber D, Klünemann HH. Psychiatric manifestations of Niemann-pick disease. J Inherit Metab Dis. 2011;4:25–31.\nWalterfang M, Kornberg A, Adams S, Fietz M, Velakoulis D. Post-ictal psychosis in adolescent Niemann-pick disease type C. J Inherit Metab Dis. 2010;33(Suppl 3):S63–5.\nSzakszon K, Szegedi I, Magyar A, Olah E, Andrejkovics M, Balla P, et al. Complete recovery from psychosis upon miglustat treatment in a juvenile Niemann-pick C patient. Eur J Paediatr Neurol. 2014;18:75–8.\nBonnot O, Gama CS, Mengel E, Pineda M, Vanier MT, Watson L, et al. Psychiatric and neurological symptoms in patients with Niemann-pick disease type C (NP-C): findings from the international NPC registry. World J Biol Psychiatry. 2017:1–10.\nJosephs KA, Van Gerpen MW, Van Gerpen JA. Adult onset Niemann-pick disease type C presenting with psychosis. J Neurol Neurosurg Psychiatry. 2003;74:528–9.\nMaubert A, Hanon C, Sedel F. Psychiatric disorders in adult form of Niemann-pick disease type C. L'Encephale. 2016;42:208–13.\nStampfer M, Theiss S, Amraoui Y, Jiang X, Keller S, Ory DS, et al. Niemann-pick disease type C clinical database: cognitive and coordination deficits are early disease indicators. Orphanet J Rare Dis. 2013;8:35.\nMaubert A, Hanon C, Metton JP. Niemann-pick type C disease and psychosis: two siblings. L'Encephale. 2015;41:238–43.\nAchenbach TM, Ruffle TM. The child behavior checklist and related forms for assessing behavioral\u002Femotional problems and competencies. Pediatr Rev. 2000;21:265–71.\nSantos ML, Raskin S, Telles DS, Lohr A Jr, Liberalesso PB, Vieira SC, Cordeiro ML. Treatment of a child diagnosed with Niemann-pick disease type C with miglustat: a case report in Brazil. J Inherit Metab Dis. 2008;31(Suppl 2):S357–61.\nMattsson N, Mansson JE, Blomqvist M, Campbell E. Niemann-pick type C disease. Rare but possible diagnosis in adult neurology and psychiatry. Lakartidningen. 2013;110:956–7.\nHeitz C, Epelbaum S, Nadjar Y. Cognitive impairment profile in adult patients with Niemann pick type C disease. Orphanet J Rare Dis. 2017;12:166.\nWechsler D. The Wechsler intelligence scale for children - 4th edition. London: Pearson Assessment; 2004.\nFecarotta S, Astarita L, Bruschini D, Pisani L, Romano A, Del Giudice E, et al. Efficacy of miglustat on the neurological involvement in Italian patients with Niemann-pick disease type C. Mol Genet Metab. 2009;98:70.\nWraith JE, Vecchio D, Jacklin E, Luzy C, Giorgino R, Patterson MC. Disease stability in patients with Niemann-pick disease type C treated with miglustat [abstract 154]. Mol Genet Metab. 2009;96:S46.\nReunert J, Fobker M, Kannenberg F, Du Chesne I, Plate M, Wellhausen J, et al. Rapid diagnosis of 83 patients with Niemann pick type C disease and related cholesterol transport disorders by cholestantriol screening. EBioMedicine. 2016;4:170–5.\nWelford RW, Garzotti M, Marques Lourenco C, Mengel E, Marquardt T, Reunert J, et al. Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-pick disease type C in a retrospective study. PLoS One. 2014;9:e114669.\nTrendelenburg G, Vanier MT, Maza S, Millat G, Bohner G, Munz DL, Zschenderlein R. Niemann-pick type C disease in a 68-year-old patient. J Neurol Neurosurg Psychiatry. 2006;77:997–8.\nGreenberg CR, Barnes JG, Kogan S, Seargeant LE. A rare case of Niemann-pick disease type C without neurological involvement in a 66-year-old patient. Mol Genet Metab Rep. 2015;3:18–20.\nJan MM, Camfield PR. Nova Scotia Niemann-pick disease (type D): clinical study of 20 cases. J Child Neurol. 1998;13:75–8.\nKelly DA, Portmann B, Mowat AP, Sherlock S, Lake BD. Niemann-pick disease type C: diagnosis and outcome in children, with particular reference to liver disease. J Pediatr. 1993;123:242–7.\nWalterfang M, Chien YH, Imrie J, Rushton D, Schubiger D, Patterson MC. Dysphagia as a risk factor for mortality in Niemann-pick disease type C: systematic literature review and evidence from studies with miglustat. Orphanet J Rare Dis. 2012;7:76.\nTemple R. Are surrogate markers adequate to assess cardiovascular disease drugs? JAMA. 1999;282:790–5.\nKatz R. Biomarkers and surrogate markers: an FDA perspective. NeuroRx. 2004;1:189–95.\nDi Rocco M, Dardis A, Madeo A, Barone R, Fiumara A. Early miglustat therapy in infantile Niemann-pick disease type C. Pediatr Neurol. 2012;47:40–3.\nBrand M, Muller A, Alsop J, van Schaik IN, Bembi B, Hughes D. Results from a 9-year intensive safety surveillance scheme (IS3) in miglustat (Zavesca®)-treated patients. Pharmacoepidemiol Drug Saf. 2015;24:329–33.\nChampion H, Ramaswami U, Imrie J, Lachmann RH, Gallagher J, Cox TM, Wraith JE. Dietary modifications in patients receiving miglustat. J Inherit Metab Dis. 2010;33(Suppl 3):S379–83.\nBelmatoug N, Burlina A, Giraldo P, Hendriksz CJ, Kuter DJ, Mengel E, Pastores GM. Gastrointestinal disturbances and their management in miglustat-treated patients. J Inherit Metab Dis. 2011;34:991–1001.\nBiegstraaten M, Mengel E, Marodi L, Petakov M, Niederau C, Giraldo P, et al. Peripheral neuropathy in adult type 1 Gaucher disease: a 2-year prospective observational study. Brain. 2010;133:2909–19.\nBiegstraaten M, van Schaik IN, Aerts JM, Hollak CE. 'Non-neuronopathic' Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature. J Inherit Metab Dis. 2008;31:337–49.\nUc EY, Wenger DA, Jankovic J. Niemann-pick disease type C: two cases and an update. Mov Disord. 2000;15:1199–203.\nAlvelius G, Hjalmarson O, Griffiths WJ, Bjorkhem I, Sjovall J. Identification of unusual 7-oxygenated bile acid sulfates in a patient with Niemann-pick disease, type C. J Lipid Res. 2001;42:1571–7.\nZafeiriou DI, Triantafyllou P, Gombakis NP, Vargiami E, Tsantali C, Michelakaki E. Niemann-pick type C disease associated with peripheral neuropathy. Pediatr Neurol. 2003;29:242–4.",{"VOID":1009},"10.1186\u002Fs13023-018-0844-0","PUBLICATION","https:\u002F\u002Fojrd.biomedcentral.com\u002Farticles\u002F10.1186\u002Fs13023-018-0844-0",[1013,1038,1053],{"id":1014,"sortIndex":32,"researcher":28,"roles":1015,"affiliations":1017,"properties":1035,"displayName":1037,"givenName":28,"familyName":28},"cf834086-368a-439c-ab4c-105af5ce2ab0",[1016],"AUTHOR",[1018,1026],{"id":1019,"sortIndex":32,"affiliation":1020,"properties":28},"63b9d282-a363-4586-9032-bb4599dd1b21",{"id":1019,"createTime":28,"updateTime":28,"relativeEntities":1021,"slug":28,"properties":1022,"entityType":28,"verifyStatus":28,"verifyTime":28,"verifyNote":28,"languages":28,"translateLanguages":28,"viewCount":28,"url":28,"parentIds":1025,"statistic":28},[],{"title":1023},{"VI":1024},"Fundacio Hospital Sant Joan de Déu, Barcelona, Spain",[],{"id":1027,"sortIndex":40,"affiliation":1028,"properties":1034},"396a7205-225c-4136-9f74-42f3b95860c2",{"id":1027,"createTime":28,"updateTime":28,"relativeEntities":1029,"slug":28,"properties":1030,"entityType":28,"verifyStatus":28,"verifyTime":28,"verifyNote":28,"languages":28,"translateLanguages":28,"viewCount":28,"url":28,"parentIds":1033,"statistic":28},[],{"title":1031},{"VI":1032},"Hospital Sant Joan de Déu, Barcelona, Spain",[],{},{"title":1036},{"VI":1037},"Mercè Pineda",{"id":1039,"sortIndex":40,"researcher":28,"roles":1040,"affiliations":1041,"properties":1050,"displayName":1052,"givenName":28,"familyName":28},"219d87ab-d397-437b-bacb-fdd54dd71b8b",[1016],[1042],{"id":1043,"sortIndex":32,"affiliation":1044,"properties":28},"c6e20a22-a80b-4c52-b258-b821b4a6f32d",{"id":1043,"createTime":28,"updateTime":28,"relativeEntities":1045,"slug":28,"properties":1046,"entityType":28,"verifyStatus":28,"verifyTime":28,"verifyNote":28,"languages":28,"translateLanguages":28,"viewCount":28,"url":28,"parentIds":1049,"statistic":28},[],{"title":1047},{"VI":1048},"Florey Institute of Neuroscience and Mental Health, Royal Melbourne Hospital, University of Melbourne, Melbourne, Australia",[],{"title":1051},{"VI":1052},"Mark Walterfang",{"id":1054,"sortIndex":123,"researcher":28,"roles":1055,"affiliations":1056,"properties":1068,"displayName":1070,"givenName":28,"familyName":28},"d9c77fce-24f3-4d23-9cda-ec869a36425c",[1016],[1057],{"id":1058,"sortIndex":32,"affiliation":1059,"properties":1065},"8a9eb850-5571-41e5-878e-182fe87c472d",{"id":1058,"createTime":28,"updateTime":28,"relativeEntities":1060,"slug":28,"properties":1061,"entityType":28,"verifyStatus":28,"verifyTime":28,"verifyNote":28,"languages":28,"translateLanguages":28,"viewCount":28,"url":28,"parentIds":1064,"statistic":28},[],{"title":1062},{"VI":1063},"Mayo Clinic, Rochester, United States",[],{"title":1066},{"VI":1067},"Mayo Clinic, Rochester, USA",{"title":1069},{"VI":1070},"Marc C. 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In this study, we examined the effects of the COVID-19 pandemic and lockdown measures on the management of FD patients. We collected data in three main domains; mood status, adherence to ERT, and COVID-19 infection. We used the Hospital Anxiety and Depression Scale (HADS) to evaluate the mood statuses of FD patients and the Morisky Medication Adherence Scale (MMAS) and the Medication Adherence Report Scale (MARS) to assess patients’ adherence to non-disease specific therapy. We also examined a control group to compare the mood status data. A total of 67 FD patients (males: 47.8%, mean age: 37.0 years) were recruited to the study, of which 58 were receiving ERT. Both the HADS depression and anxiety scores were higher in the control group compared to FD patients. During the first wave of the pandemic, 25 patients reported to have missed an infusion for a mean of 2.3 ± 1.7 doses and half of the patients had adopted a home-based infusion treatment regimen. COVID-19 infection developed in 25 patients, of which one died. The majority of our patients (71.6%) have had at least one shot of the vaccine. We found that FD patients were more resilient to the negative psychological effects of lockdown. Traumatic growth may be an important factor in explaining this finding. Government-supported home therapy programs might be beneficial for FD patients to increase the therapy adherence.",{"EN":1141},"The impact of the COVID-19 pandemic on Fabry Disease Patients: an examination of Mood Status, Therapy Adherence, and COVID-19 infection",{"VOID":1143},"Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30. https:\u002F\u002Fdoi.org\u002F10.1186\u002F1750-1172-5-30.\nWorld Health Organization. WHO Director-General’s opening remarks at the media briefing on COVID-19 [Internet]. https:\u002F\u002Fwww.who.int\u002Fdirector-general\u002Fspeeches\u002Fdetail\u002Fwho-director-general-s-opening-remarks-at-the-media-briefing-on-covid-19---11-march-2020. Accessed 24 Dec 2021.\nRepublic of Turkey, Ministry of Interior. Circular letter on the curfew for those 65 years and over and those with chronic illnesses [Internet]. https:\u002F\u002Fwww.icisleri.gov.tr\u002F65-yas-ve-ustu-ile-kronik-rahatsizligi-olanlara-sokaga-cikma-yasagi-genelgesi. Accessed 24 Dec 2021.\nHopkin RJ, Cabrera G, Charrow J, et al. Risk factors for severe clinical events in male and female patients with Fabry disease treated with agalsidase beta enzyme replacement therapy: data from the Fabry Registry. Mol Genet Metab. 2016;119:151–9. https:\u002F\u002Fdoi.org\u002F10.1016\u002Fj.ymgme.2016.06.007.\nLaney DA, Germain DP, Oliveira JP, et al. Fabry disease and COVID-19: international expert recommendations for management based on real-world experience. Clin Kidney J. 2020;13:913–25. https:\u002F\u002Fdoi.org\u002F10.1093\u002Fckj\u002Fsfaa227.\nOzcan SG, Poyraz BC, Bakir A, Trabulus S, Pekmezci S, Seyahi N. Coronavirus pandemic: mood statuses of renal transplant recipients during social isolation and lockdown periods. Exp Clin Transplant. 2021. https:\u002F\u002Fdoi.org\u002F10.6002\u002Fect.2020.0488.\nKaraca C, Eren N, Dincer MT, et al. How dialysis patients cope with a curfew? A comparison of psychological status between hemodialysis and peritoneal dialysis patients during the COVID-19 pandemic. Blood Purif. 2021. https:\u002F\u002Fdoi.org\u002F10.1159\u002F000517839.\nAlagoz S, Eren N, Ozcan SG, et al. Impact of COVID-19 lockdown on mood status: a comparison of hemodialysis and oncology patients. Ther Apher Dial. 2021. https:\u002F\u002Fdoi.org\u002F10.1111\u002F1744-9987.13767.\nZigmond AS, Snaith RP. The hospital anxiety and depression scale. Acta Psychiatr Scand. 1983;67:361–70. https:\u002F\u002Fdoi.org\u002F10.1111\u002Fj.1600-0447.1983.tb09716.x.\nSnaith RP. The hospital anxiety and depression scale. Health Qual Life Outcomes. 2003;1:29. https:\u002F\u002Fdoi.org\u002F10.1186\u002F1477-7525-1-29.\nAydemir O, Guvenir T, Kuey L, Kultur S. Validity and reliability of Turkish version of hospital anxiety and depression scale. Turk J Psychiatry. 1997;8:280–7.\nChan AHY, Horne R, Hankins M, Chisari C. The medication adherence report scale: a measurement tool for eliciting patients’ reports of nonadherence. Br J Clin Pharmacol. 2020;86:1281–8. https:\u002F\u002Fdoi.org\u002F10.1111\u002Fbcp.14193.\nSen ET, Berk OS, Sindel D. The validity and reliability study of the Turkish adaptation of medical adherence report scale. J Ist Fac Med. 2019;82:52–61. https:\u002F\u002Fdoi.org\u002F10.26650\u002FIUITFD.413637.\nMorisky DE, Green LW, Levine DM. Concurrent and predictive validity of a self-reported measure of medication adherence. Med Care. 1986;24:67–74. https:\u002F\u002Fdoi.org\u002F10.1097\u002F00005650-198601000-00007.\nBahar G, Savas HA, Unal A, Savas E, Kaya H, Bahar A. Reliability and validity of the Morisky Medication Adherence Scale for bipolar mood disorder. Anatol J Psychiatry. 2014;15:141–9. https:\u002F\u002Fdoi.org\u002F10.5455\u002Fapd.39827.\nGandhi RT, Lynch JB, Del Rio C. Mild or moderate covid-19. N Engl J Med. 2020;383(18):1757–66. https:\u002F\u002Fdoi.org\u002F10.1056\u002FNEJMcp2009249.\nUsher K, Bhullar N, Jackson D. Life in the pandemic: social isolation and mental health. J Clin Nurs. 2020;29:2756–7. https:\u002F\u002Fdoi.org\u002F10.1111\u002Fjocn.15290.\nElstein D, Giugliani R, Muenzer J, Schenk J, Schwartz IVD, Anagnostopoulou C. Impact of the COVID-19 pandemic on the standard of care for patients with lysosomal storage diseases: a survey of healthcare professionals in the Fabry, Gaucher, and Hunter Outcome Survey registries. Mol Genet Metab Rep. 2021;28:100788. https:\u002F\u002Fdoi.org\u002F10.1016\u002Fj.ymgmr.2021.100788.\nKahraman AB, Yildiz Y, Ciki K, et al. Invisible burden of COVID-19: enzyme replacement therapy disruptions. J Pediatr Endocrinol Metab. 2021;34:539–45. https:\u002F\u002Fdoi.org\u002F10.1515\u002Fjpem-2021-0067.\nSechi A, Macor D, Valent S, et al. Impact of COVID-19 related healthcare crisis on treatments for patients with lysosomal storage disorders, the first Italian experience. Mol Genet Metab. 2020;130:170–1. https:\u002F\u002Fdoi.org\u002F10.1016\u002Fj.ymgme.2020.04.002.\nNowicki M, Bazan-Socha S, Kłopotowski M, et al. Considerations for home-based treatment of Fabry disease in Poland during the COVID-19 pandemic and beyond. Int J Environ Res Public Health. 2021;18:8242. https:\u002F\u002Fdoi.org\u002F10.3390\u002Fijerph18168242.\nDrelichman G, Ponce E, Basack N, et al. Clinical consequences of interrupting enzyme replacement therapy in children with type 1 Gaucher disease. J Pediatr. 2007;151:197–201. https:\u002F\u002Fdoi.org\u002F10.1016\u002Fj.jpeds.2007.02.057.\nSolano M, Fainboim A, Politei J, et al. Enzyme replacement therapy interruption in patients with mucopolysaccharidoses: recommendations for distinct scenarios in Latin America. Mol Genet Metab Rep. 2020;23:100572. https:\u002F\u002Fdoi.org\u002F10.1016\u002Fj.ymgmr.2020.100572.\nPolitei J. Fabry disease during the COVID-19 pandemic. Why and how treatment should be continued. Mol Genet Metab. 2020;130:227–9. https:\u002F\u002Fdoi.org\u002F10.1016\u002Fj.ymgme.2020.06.002.\nCabrera G, Politei J. Interruption of enzyme replacement therapy in Fabry disease: unfavorable outcome. Neurol Argent. 2011;3:113–111.\nKusztal M, Klopotowski M, Bazan-Socha S, et al. Is home-based therapy in Fabry disease the answer to compelling patients’ needs during the COVID-19 pandemic? Survey results from the Polish FD Collaborative Group. Adv Clin Exp Med. 2021;30:449–54. https:\u002F\u002Fdoi.org\u002F10.17219\u002Facem\u002F132038.\nRiccio E, Pieroni M, Limoneglli G, Pisani A. Impact of COVID-19 pandemic on patients with Fabry disease: an Italian experience. Mol Genet Metab. 2020;131:124–5. https:\u002F\u002Fdoi.org\u002F10.1016\u002Fj.ymgme.2020.07.008.\nOzcifci G, Aydin T, Atli Z, et al. The incidence, clinical characteristics, and outcome of COVID-19 in a prospectively followed cohort of patients with Behcet’s syndrome. Rheumatol Int. 2021. https:\u002F\u002Fdoi.org\u002F10.1007\u002Fs00296-021-05056-2.\nTurkish Ministry of Health. COVID-19 Situation Report [Internet]. https:\u002F\u002Fcovid19.saglik.gov.tr\u002FTR-66935\u002Fgenel-koronavirus-tablosu.html. Accessed 24 Dec 2021.\nTurkish Statistical Institute. The results of address based population registration system [Internet]. https:\u002F\u002Fdata.tuik.gov.tr\u002FBulten\u002FIndex?p=37210. Accessed 24 Dec 2021.\nTurkish Ministry of Health. Covid-19 vaccination information platform [Internet]. https:\u002F\u002Fcovid19asi.saglik.gov.tr\u002F. Accessed 24 Dec 2021.\nGómez-Luján M, Cruzalegui C, Aguilar C, et al. When frequent (pandemic) occurs in a non-frequent disease: COVID-19 and Fabry disease: report of two cases. Jpn J Infect Dis. 2021;74(3):228–32. https:\u002F\u002Fdoi.org\u002F10.7883\u002Fyoken.JJID.2020.729.\nGhosh S, Dellibovi-Ragheb TA, Kerviel A, et al. β-coronaviruses use lysosomes for egress instead of the biosynthetic secretory pathway. Cell. 2020;183(6):1520-1535.e14. https:\u002F\u002Fdoi.org\u002F10.1016\u002Fj.cell.2020.10.039.",{"VOID":1145},"10.1186\u002Fs13023-022-02491-7","Auto Verify","https:\u002F\u002Fojrd.biomedcentral.com\u002Farticles\u002F10.1186\u002Fs13023-022-02491-7",[1149,1164,1177,1192,1205,1220,1235,1250,1263,1276],{"id":1150,"sortIndex":32,"researcher":28,"roles":1151,"affiliations":1152,"properties":1161,"displayName":1163,"givenName":28,"familyName":28},"3128c887-f241-4c95-a2a0-a2410053c493",[1016],[1153],{"id":1154,"sortIndex":32,"affiliation":1155,"properties":28},"b499b266-beb6-4c96-90b4-4c73bf72a457",{"id":1154,"createTime":28,"updateTime":28,"relativeEntities":1156,"slug":28,"properties":1157,"entityType":28,"verifyStatus":28,"verifyTime":28,"verifyNote":28,"languages":28,"translateLanguages":28,"viewCount":28,"url":28,"parentIds":1160,"statistic":28},[],{"title":1158},{"VI":1159},"Department of Nephrology, Cerrahpasa Medical Faculty, Istanbul University - Cerrahpasa, Istanbul, Turkey",[],{"title":1162},{"VI":1163},"Cebrail Karaca",{"id":1165,"sortIndex":40,"researcher":28,"roles":1166,"affiliations":1167,"properties":1174,"displayName":1176,"givenName":28,"familyName":28},"0c77482f-91e5-46fa-9ea9-cd8c756f2600",[1016],[1168],{"id":1154,"sortIndex":32,"affiliation":1169,"properties":28},{"id":1154,"createTime":28,"updateTime":28,"relativeEntities":1170,"slug":28,"properties":1171,"entityType":28,"verifyStatus":28,"verifyTime":28,"verifyNote":28,"languages":28,"translateLanguages":28,"viewCount":28,"url":28,"parentIds":1173,"statistic":28},[],{"title":1172},{"VI":1159},[],{"title":1175},{"VI":1176},"Mevlut Tamer 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Ahmadzada",{"id":1221,"sortIndex":46,"researcher":28,"roles":1222,"affiliations":1223,"properties":1232,"displayName":1234,"givenName":28,"familyName":28},"23ffa47c-1d6e-43c0-92e8-eed4cab23869",[1016],[1224],{"id":1225,"sortIndex":32,"affiliation":1226,"properties":28},"5a555456-2884-404f-81b0-3ca10aa95c35",{"id":1225,"createTime":28,"updateTime":28,"relativeEntities":1227,"slug":28,"properties":1228,"entityType":28,"verifyStatus":28,"verifyTime":28,"verifyNote":28,"languages":28,"translateLanguages":28,"viewCount":28,"url":28,"parentIds":1231,"statistic":28},[],{"title":1229},{"VI":1230},"Department of Nephrology, Istanbul Training and Research Hospital, University of Health Sciences, Istanbul, Turkey",[],{"title":1233},{"VI":1234},"Selma 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approved treatments for spinal muscular atrophy (SMA) may shift clinical care priorities to secondary complications associated with SMA-related aging. To date, there is little knowledge about the natural history of morbidities across the adult lifespan for SMA. The objective of this study was to identify the prevalence and odds ratio (OR) of various morbidities among adults with vs. without SMA prior to SMA-related treatment. This was a retrospective cohort study that accessed Medicare fee-for-service and commercial claims data from 01\u002F01\u002F2008-12\u002F22\u002F2016. Data from adults ≥ 18 years old with SMA and without SMA matched (1:200 case:control) on demographics, region, and study entry year were included. The prevalence of 30 morbidities across physiologic systems (e.g., cardiovascular, metabolic, musculoskeletal, urinary) and mental health disorders was examined. Age- and sex-adjusted OR was estimated using logistic regression for each morbidity and effect modification by age and sex was tested. There were 2,427 adults with SMA (mean [SD] age, 59.7 [17.4] years; 49.0% female) and 484,528 matched adults without SMA. Adults with vs. without SMA had a higher prevalence and adjusted OR of all 30 morbidities, ranging from OR = 1.61 (95% CI = 1.45–1.80) for hypothyroidism to OR = 7.80 (95% CI = 7.10–8.57) for fluid\u002Felectrolyte disorders. There was effect modification by age for 24 morbidities. The OR was highest for the youngest age group (18–40 years; OR range, 2.38 to 117.7; all P \u003C 0.05) and declined with older age groups, but still remained significantly elevated in the oldest age group (≥ 75 years; OR range, 1.30 to 5.96; all P \u003C 0.05). The limitations of this study are that evidence of morbidities were limited to diagnostic claims and information on SMA type and symptoms or onset were not available. In conclusion, adults with SMA had a higher and earlier prevalence of a variety of morbidities across physiological systems and mental health disorders.",{"EN":1357},"Prevalence of morbidities across the lifespan for adults with spinal muscular atrophy: a retrospective cohort study",{"VOID":1359},"Sugarman EA, Nagan N, Zhu H, Akmaev VR, Zhou Z, Rohlfs EM, et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of > 72,400 specimens. Eur J Hum Genet. 2012;20(1):27–32.\nD’Amico A, Mercuri E, Tiziano FD, Bertini E. Spinal muscular atrophy. Orphanet J Rare Dis. 2011;6:71.\nZerres K, Rudnik-Schoneborn S, Forrest E, Lusakowska A, Borkowska J, Hausmanowa-Petrusewicz I. A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients. J Neurol Sci. 1997;146(1):67–72.\nKolb SJ, Kissel JT. Spinal muscular atrophy. Neurol Clin. 2015;33(4):831–46.\nNicolau S, Waldrop MA, Connolly AM, Mendell JR. Spinal muscular atrophy. Semin Pediatr Neurol. 2021;37:100878.\nCoovert DD, Le TT, McAndrew PE, Strasswimmer J, Crawford TO, Mendell JR, et al. The survival motor neuron protein in spinal muscular atrophy. Hum Mol Genet. 1997;6(8):1205–14.\nLefebvre S, Burlet P, Liu Q, Bertrandy S, Clermont O, Munnich A, et al. Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet. 1997;16(3):265–9.\nGroen EJN, Perenthaler E, Courtney NL, Jordan CY, Shorrock HK, van der Hoorn D, et al. Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy. Hum Mol Genet. 2018;27(16):2851–62.\nLipnick SL, Agniel DM, Aggarwal R, Makhortova NR, Finlayson SG, Brocato A, et al. Systemic nature of spinal muscular atrophy revealed by studying insurance claims. PLoS ONE. 2019;14(3):e0213680.\nMouchet J, Roumpanis S, Gaki E, Lipnick S, Oskoui M, Scalco RS, et al. Disease Burden of spinal muscular atrophy: a comparative cohort study using insurance Claims Data in the USA. J Neuromuscul Dis. 2023;10(1):41–53.\nDarras BT, Chiriboga CA, Iannaccone ST, Swoboda KJ, Montes J, Mignon L, et al. Nusinersen in later-onset spinal muscular atrophy: long-term results from the phase 1\u002F2 studies. Neurology. 2019;92(21):e2492–e506.\nDe Vivo DC, Bertini E, Swoboda KJ, Hwu WL, Crawford TO, Finkel RS, et al. Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: interim efficacy and safety results from the phase 2 NURTURE study. Neuromuscul Disord. 2019;29(11):842–56.\nFinkel RS, Chiriboga CA, Vajsar J, Day JW, Montes J, De Vivo DC, et al. Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study. Lancet. 2016;388(10063):3017–26.\nFinkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, et al. Nusinersen versus Sham Control in infantile-onset spinal muscular atrophy. N Engl J Med. 2017;377(18):1723–32.\nMercuri E, Darras BT, Chiriboga CA, Day JW, Campbell C, Connolly AM, et al. Nusinersen versus Sham Control in later-onset spinal muscular atrophy. N Engl J Med. 2018;378(7):625–35.\nAl-Zaidy S, Pickard AS, Kotha K, Alfano LN, Lowes L, Paul G, et al. Health outcomes in spinal muscular atrophy type 1 following AVXS-101 gene replacement therapy. Pediatr Pulmonol. 2019;54(2):179–85.\nMendell JR, Al-Zaidy S, Shell R, Arnold WD, Rodino-Klapac LR, Prior TW, et al. Single-dose gene-replacement therapy for spinal muscular atrophy. N Engl J Med. 2017;377(18):1713–22.\nBelter L, Cruz R, Kulas S, McGinnis E, Dabbous O, Jarecki J. Economic burden of spinal muscular atrophy: an analysis of claims data. J Mark Access Health Policy. 2020;8(1):1843277.\nCharlson ME, Pompei P, Ales KL, MacKenzie CR. A new method of classifying prognostic comorbidity in longitudinal studies: development and validation. J Chronic Dis. 1987;40(5):373–83.\nQuan H, Li B, Couris CM, Fushimi K, Graham P, Hider P, et al. Updating and validating the Charlson comorbidity index and score for risk adjustment in hospital discharge abstracts using data from 6 countries. Am J Epidemiol. 2011;173(6):676–82.\nElixhauser A, Steiner C, Harris DR, Coffey RM. Comorbidity measures for use with administrative data. Med Care. 1998;36(1):8–27.\nWhitney DG, Basu T. Whitney Comorbidity Index to monitor health status for adults with cerebral palsy: validation and thresholds to assist clinical decision making. Dev Med Child Neurol. 2021;63(7):853–9.\nWhitney DG, Kamdar NS. Development of a new comorbidity index for adults with cerebral palsy and comparative assessment with common comorbidity indices. Dev Med Child Neurol. 2021;63(3):313–9.\nLambert D. Zero-inflated Poisson Regression, with an application to defects in Manufacturing. Technometrics. 1992;34(1):1–14.\nVestergaard P, Glerup H, Steffensen BF, Rejnmark L, Rahbek J, Moseklide L. Fracture risk in patients with muscular dystrophy and spinal muscular atrophy. J Rehabil Med. 2001;33(4):150–5.\nWijngaarde CA, Stam M, Otto LAM, van Eijk RPA, Cuppen I, Veldhoen ES, et al. Population-based analysis of survival in spinal muscular atrophy. Neurology. 2020;94(15):e1634–e44.\nWijngaarde CA, Veldhoen ES, van Eijk RPA, Stam M, Otto LAM, Asselman FL, et al. Natural history of lung function in spinal muscular atrophy. Orphanet J Rare Dis. 2020;15(1):88.\nArmstrong EP, Malone DC, Yeh WS, Dahl GJ, Lee RL, Sicignano N. The economic burden of spinal muscular atrophy. J Med Econ. 2016;19(8):822–6.\nSt Germaine-Smith C, Metcalfe A, Pringsheim T, Roberts JI, Beck CA, Hemmelgarn BR, et al. Recommendations for optimal ICD codes to study neurologic conditions: a systematic review. Neurology. 2012;79(10):1049–55.\nChen G, Sharif B, Gerber B, Farris MS, Cowling T, Cabalteja C, et al. Epidemiology, healthcare resource utilization and healthcare costs for spinal muscular atrophy in Alberta, Canada. J Med Econ. 2021;24(sup1):51–9.\nVerhaart IEC, Robertson A, Wilson IJ, Aartsma-Rus A, Cameron S, Jones CC, et al. Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review. Orphanet J Rare Dis. 2017;12(1):124.\nArkblad E, Tulinius M, Kroksmark AK, Henricsson M, Darin N. A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy. Acta Paediatr. 2009;98(5):865–72.\nDarin N, Tulinius M. Neuromuscular disorders in childhood: a descriptive epidemiological study from western Sweden. Neuromuscul Disord. 2000;10(1):1–9.\nMerlini L, Stagni SB, Marri E, Granata C. 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European principles of inhibitor management in patients with haemophilia. Orphanet J Rare Dis. 2018;13(1):66.\nOldenburg J, Mahlangu JN, Kim B, Schmitt C, Callaghan MU, Young G, et al. Emicizumab prophylaxis in hemophilia a with inhibitors. N Engl J Med. 2017;377(9):809–18.\nYoung G, Liesner R, Chang T, Sidonio R, Oldenburg J, Jimenez-Yuste V, et al. A multicenter, open-label phase 3 study of emicizumab prophylaxis in children with hemophilia a with inhibitors. Blood. 2019;134(24):2127–38.\nEbbert PT, Xavier F, Seaman CD, Ragni MV. Emicizumab prophylaxis in patients with haemophilia a with and without inhibitors. Haemophilia. 2020;26(1):41–6.\nPage D. Parent testimonial: a caregiver whose son with inhibitors has been receiving emicizumab. Transfus Apher Sci. 2019;58:5.\nGruppo RA, Malan D, Kapocsi J, Nemes L, Hay CRM, Boggio L, et al. Phase 1, single-dose escalating study of marzeptacog alfa (activated), a recombinant factor VIIa variant, in patients with severe hemophilia. J Thromb Haemost. 2018;16(10):1984–93.\nButterfield JSS, Hege KM, Herzog RW, Kaczmarek R. A molecular revolution in the treatment of hemophilia. Mol Ther. 2019;28(4):997.\nThe Hemophilia Inhibitor Prevention Trial. https:\u002F\u002Fwww.clinicaltrials.gov\u002Fct2\u002Fshow\u002FNCT04303559. 22-7-2020.\nA Study to Evaluate the Efficacy, Safety, Pharmacokinetics, and Pharmacodynamics of Subcutaneous Emicizumab in Participants From Birth to 12 Months of Age With Hemophilia A Without Inhibitors (HAVEN 7). https:\u002F\u002Fwww.clinicaltrials.gov\u002Fct2\u002Fshow\u002FNCT04431726?term=emicizumab&draw=2&rank=6 . 22-7-0020.\nPierce GF, Hart DP, Kaczmarek R. Safety and efficacy of emicizumab and other novel agents in newborns and infants. Haemophilia. 2019;25(5):e334–5.\nJenkins PV, Bowyer A, Burgess C, Gray E, Kitchen S, Murphy P et al. Laboratory coagulation tests and emicizumab treatment A United Kingdom Haemophilia Centre Doctors' Organisation guideline. Haemophilia 2019; ;26(1):151.\nSusen S, Gruel Y, Godier A, Harroche A, Chambost H, Lasne D, et al. Management of bleeding and invasive procedures in haemophilia a patients with inhibitor treated with emicizumab (Hemlibra((R)) ): proposals from the French network on inherited bleeding disorders (MHEMO), the French reference Centre on Haemophilia, in collaboration with the French working group on perioperative Haemostasis (GIHP). Haemophilia. 2019;25(5):731–7.\nCastaman G, Santoro C, Coppola A, Mancuso ME, Santoro RC, Bernardini S, et al. Emergency management in patients with haemophilia a and inhibitors on prophylaxis with emicizumab: AICE practical guidance in collaboration with SIBioC, SIMEU, SIMEUP, SIPMeL and SISET. Blood Transfus. 2019;18:1–8.\nCarcao M, Escuriola-Ettingshausen C, Santagostino E, Oldenburg J, Liesner R, Nolan B, et al. The changing face of immune tolerance induction in haemophilia a with the advent of emicizumab. 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Jansone",{"url":1487,"publisher":1624,"properties":1673},{"id":868,"createTime":869,"updateTime":870,"relativeEntities":1625,"slug":872,"properties":1626,"entityType":25,"verifyStatus":880,"verifyTime":28,"verifyNote":28,"languages":28,"translateLanguages":28,"viewCount":32,"subjectFields":1629,"manageAffiliations":1642,"indexDatabases":1653,"url":28,"thumbnailPath":28,"statistic":1668,"gsStatistic":28,"type":55,"analyzePriority":28},[],{"issn":1627,"title":1628},{"VOID":875},{"EN":877},[1630,1634,1638],{"id":883,"createTime":28,"updateTime":28,"relativeEntities":1631,"label":1632,"description":1633,"parentId":28,"standard":28,"scholarHubFieldId":28},[],{"EN":886},{},{"id":889,"createTime":28,"updateTime":28,"relativeEntities":1635,"label":1636,"description":1637,"parentId":28,"standard":28,"scholarHubFieldId":28},[],{"EN":892},{},{"id":895,"createTime":28,"updateTime":28,"relativeEntities":1639,"label":1640,"description":1641,"parentId":28,"standard":28,"scholarHubFieldId":28},[],{"EN":898},{},[1643,1648],{"id":902,"createTime":28,"updateTime":28,"relativeEntities":1644,"slug":28,"properties":1645,"entityType":28,"verifyStatus":28,"verifyTime":28,"verifyNote":28,"languages":28,"translateLanguages":28,"viewCount":28,"url":28,"parentIds":1647,"statistic":28},[],{"title":1646},{"EN":906},[],{"id":909,"createTime":28,"updateTime":28,"relativeEntities":1649,"slug":28,"properties":1650,"entityType":28,"verifyStatus":28,"verifyTime":28,"verifyNote":28,"languages":28,"translateLanguages":28,"viewCount":28,"url":28,"parentIds":1652,"statistic":28},[],{"title":1651},{"EN":913},[],[1654,1661],{"id":917,"indexDatabase":1655,"url":923,"indexYears":924,"academicFieldIds":1660,"indexDatabaseRanking":929},{"id":775,"createTime":28,"updateTime":28,"relativeEntities":1656,"label":1657,"description":1658,"key":781,"publicationTags":1659,"standard":28},[],{"EN":778,"VI":778},{"EN":778,"VI":780},[783],[926,927,928],{"id":931,"indexDatabase":1662,"url":943,"indexYears":28,"academicFieldIds":1667,"indexDatabaseRanking":28},{"id":933,"createTime":28,"updateTime":28,"relativeEntities":1663,"label":1664,"description":1665,"key":940,"publicationTags":1666,"standard":28},[],{"EN":936,"VI":936},{"EN":938,"VI":939},[942,813],[945,946],{"impactFactor":32,"impactFactorByYear":1669,"i10Index":954,"i10IndexLast5Year":600,"totalPublication":955,"totalPublicationByYear":1670,"totalCitation":965,"totalCitationByYear":1671,"totalCitationPerPublication":982,"totalCitationPerPublicationByYear":1672,"hindexLast5Year":151,"hindex":151},{"2012":440,"2013":172,"2014":949,"2015":173,"2016":950,"2017":120,"2018":171,"2019":951,"2020":952,"2021":293,"2022":953,"2023":115},{"2006":352,"2007":278,"2008":140,"2009":130,"2010":159,"2011":158,"2012":957,"2013":958,"2014":959,"2015":960,"2016":154,"2017":430,"2018":961,"2019":578,"2020":571,"2021":962,"2022":963,"2023":964,"2024":600},{"2006":967,"2007":968,"2008":969,"2009":970,"2010":328,"2011":971,"2012":972,"2013":973,"2014":974,"2015":975,"2016":976,"2017":977,"2018":978,"2019":979,"2020":980,"2021":981,"2022":961},{"2006":984,"2007":985,"2008":986,"2009":987,"2010":367,"2011":988,"2012":989,"2013":990,"2014":627,"2015":991,"2016":992,"2017":376,"2018":377,"2019":635,"2020":343,"2021":342,"2022":119},{"pages":1674,"volume":1676},{"VOID":1675},"1-4",{"VOID":1677},"15","2020-08-24",2020,[942,929],{"id":1682,"createTime":1683,"updateTime":1683,"relativeEntities":1684,"slug":28,"properties":1685,"entityType":1010,"verifyStatus":880,"verifyTime":28,"verifyNote":28,"languages":28,"translateLanguages":28,"viewCount":32,"primaryUrl":1694,"fullTextUrl":28,"authors":1695,"publicationType":1071,"publisherRelationship":1741,"citationCount":28,"citationInfo":28,"publishDate":1796,"publishYear":1797,"citationAnalyzeStatus":880,"lastCitationAnalyze":28,"indexDatabases":1798,"openAccess":28,"references":28,"isForceReanalyzing":1130},"012f34ed-1d14-40cf-baf9-0b97e0bcbfdd","2023-12-03T05:32:45.529+00:00",[],{"abstract":1686,"title":1688,"references":1690,"doi":1692},{"EN":1687},"Xeroderma pigmentosum (XP) is defined by extreme sensitivity to sunlight, resulting in sunburn, pigment changes in the skin and a greatly elevated incidence of skin cancers. It is a rare autosomal recessive disorder and has been found in all continents and racial groups. Estimated incidences vary from 1 in 20, 000 in Japan to 1 in 250, 000 in the USA, and approximately 2.3 per million live births in Western Europe. The first features are either extreme sensitivity to sunlight, triggering severe sunburn, or, in patients who do not show this sun-sensitivity, abnormal lentiginosis (freckle-like pigmentation due to increased numbers of melanocytes) on sun-exposed areas. This is followed by areas of increased or decreased pigmentation, skin aging and multiple skin cancers, if the individuals are not protected from sunlight. A minority of patients show progressive neurological abnormalities. There are eight XP complementation groups, corresponding to eight genes, which, if defective, can result in XP. The products of these genes are involved in the repair of ultraviolet (UV)-induced damage in DNA. Seven of the gene products (XPA through G) are required to remove UV damage from the DNA. The eighth (XPV or DNA polymerase η) is required to replicate DNA containing unrepaired damage. There is wide variability in clinical features both between and within XP groups. Diagnosis is made clinically by the presence, from birth, of an acute and prolonged sunburn response at all exposed sites, unusually early lentiginosis in sun-exposed areas or onset of skin cancers at a young age. The clinical diagnosis is confirmed by cellular tests for defective DNA repair. These features distinguish XP from other photodermatoses such as solar urticaria and polymorphic light eruption, Cockayne Syndrome (no pigmentation changes, different repair defect) and other lentiginoses such as Peutz-Jeghers syndrome, Leopard syndrome and Carney complex (pigmentation not sun-associated), which are inherited in an autosomal dominant fashion. Antenatal diagnosis can be performed by measuring DNA repair or by mutation analysis in CVS cells or in amniocytes. Although there is no cure for XP, the skin effects can be minimised by rigorous protection from sunlight and early removal of pre-cancerous lesions. In the absence of neurological problems and with lifetime protection against sunlight, the prognosis is good. In patients with neurological problems, these are progressive, leading to disabilities and a shortened lifespan.",{"EN":1689},"Xeroderma pigmentosum",{"VOID":1691},"Robbins JH, Kraemer KH, Lutzner MA, Festoff BW, Coon HG: Xeroderma pigmentosum: an inherited disease with sun-sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair. Annals Internal Med. 1974, 80: 221-248.\nHirai Y, Kodama Y, Moriwaki S, Noda A, Cullings HM, Macphee DG, Kodama K, Mabuchi K, Kraemer KH, Land CE, Nakamura N: Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1% of the Japanese population. Mutat Res. 2006, 601: 171-178.\nKleijer WJ, Laugel V, Berneburg M, Nardo T, Fawcett H, Gratchev A, Jaspers NG, Sarasin A, Stefanini M, Lehmann AR: Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. DNA Repair (Amst). 2008, 7: 744-750. 10.1016\u002Fj.dnarep.2008.01.014.\nKraemer KH, Lee MM, Scotto J: Xeroderma Pigmentosum. Cutaneous, ocular and neurologic abnormalities in 830 published cases. Archives of Dermatology. 1987, 123: 241-250. 10.1001\u002Farchderm.123.2.241.\nStefanini M, Kraemer KHK: Xeroderma pigmentosum. Neurocutaneous Diseases. Edited by: Ruggieri M, Pascual-Castroviejo I, Di Rocco C. 2008, Chapter 51: 771-792.\nBradford PT, Goldstein AM, Tamura D, Khan SG, Ueda T, Boyle J, Oh KS, Imoto K, Inui H, Moriwaki SI, Emmert S, Pike KM, Raziuddin A, Plona TM, Digiovanna JJ, Tucker MA, Kraemer KH: Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair. J Med Genet. 2011, 48: 168-176. 10.1136\u002Fjmg.2010.083022.\nRamkumar HL, Brooks BP, Cao X, Tamura D, Digiovanna JJ, Kraemer KH, Chan CC: Ophthalmic manifestations and histopathology of xeroderma pigmentosum: two clinicopathological cases and a review of the literature. Surv Ophthalmol. 2011, 56: 348-361. 10.1016\u002Fj.survophthal.2011.03.001.\nAndrews AD, Barrett SF, Robbins JH: Xeroderma pigmentosum neurological abnormalities correlate with colony-forming ability after ultraviolet radiation. Proceedings of the National Academy of Sciences of the United States of America. 1978, 75: 1984-1988. 10.1073\u002Fpnas.75.4.1984.\nLehmann AR, Kirk-Bell S, Arlett CF, Paterson MC, Lohman PHM, de Weerd-Kastelein EA, Bootsma D: Xeroderma pigmentosum cells with normal levels of excision repair have a defect in DNA synthesis after UV-irradiation. Proceedings of the National Academy of Sciences of the United States of America. 1975, 72: 219-223. 10.1073\u002Fpnas.72.1.219.\nMasutani C, Kusumoto R, Yamada A, Dohmae N, Yokoi M, Yuasa M, Araki M, Iwai S, Takio K, Hanaoka F: The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta. Nature. 1999, 399: 700-704. 10.1038\u002F21447.\nDaya-Grosjean L, Sarasin A: The role of UV induced lesions in skin carcinogenesis: an overview of oncogene and tumor suppressor gene modifications in xeroderma pigmentosum skin tumors. Mutat Res. 2005, 571: 43-56.\nBrooks PJ: The 8, 5'-cyclopurine-2'-deoxynucleosides: candidate neurodegenerative DNA lesions in xeroderma pigmentosum, and unique probes of transcription and nucleotide excision repair. DNA Repair (Amst). 2008, 7: 1168-1179. 10.1016\u002Fj.dnarep.2008.03.016.\nStefanini M, Keijzer W, Dalpra L, Elli R, Porro MN, Nicoletti B, Nuzzo F: Differences in the levels of UV repair and in clinical symptoms in two sibs affected by xeroderma pigmentosum. Hum Genet. 1980, 54: 177-182. 10.1007\u002FBF00278968.\nLehmann AR, Stevens S: A rapid procedure for measurement of DNA repair in human fibroblasts and for complementation analysis of xeroderma pigmentosum cells. Mutation Research. 1980, 69: 177-190.\nLimsirichaikul S, Niimi A, Fawcett H, Lehmann A, Yamashita S, Ogi T: A rapid non-radioactive technique for measurement of repair synthesis in primary human fibroblasts by incorporation of ethynyl deoxyuridine (EdU). Nucleic Acids Res. 2009, 37: e31.\nArlett CF, Harcourt SA, Broughton BC: The influence of caffeine on cell survival in excision-proficient and excision-deficient xeroderma pigmentosum and normal human cell strains following ultraviolet light irradiation. Mutation Research. 1975, 33: 341-346.\nBroughton BC, Cordonnier A, Kleijer WJ, Jaspers NG, Fawcett H, Raams A, Garritsen VH, Stary A, Avril MF, Boudsocq F, Masutani C, Hanaoka F, Fuchs RP, Sarasin A, Lehmann AR: Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients. Proc Natl Acad Sci USA. 2002, 99: 815-820. 10.1073\u002Fpnas.022473899.\nChavanne F, Broughton BC, Pietra D, Nardo T, Browitt A, Lehmann AR, Stefanini M: Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein and transcript levels. Cancer Research. 2000, 60: 1974-1982.\nXeroderma pigmentosum support group. [http:\u002F\u002Fjoomla.xpsupportgroup.org.uk].\nXP family support group [http:\u002F\u002Fwww.xpfamilysupport.org] and xeroderma pigmentosum society. [http:\u002F\u002Fwww.xps.org\u002F].\nEnfants de la lune. [http:\u002F\u002Fasso.orpha.net\u002FAXP].\nXP Freu(n)de. [http:\u002F\u002Fwww.xerodermapigmentosum.de].\nHuman DNA repair genes. [http:\u002F\u002Fsciencepark.mdanderson.org\u002Flabs\u002Fwood\u002FDNA_Repair_Genes.html].",{"VOID":1693},"10.1186\u002F1750-1172-6-70","http:\u002F\u002Fojrd.biomedcentral.com\u002Farticles\u002F10.1186\u002F1750-1172-6-70",[1696,1711,1726],{"id":1697,"sortIndex":32,"researcher":28,"roles":1698,"affiliations":1699,"properties":1708,"displayName":1710,"givenName":28,"familyName":28},"89fd30c5-d925-4571-a083-2e2663c56ea2",[1016],[1700],{"id":1701,"sortIndex":32,"affiliation":1702,"properties":28},"a05d949e-5e12-4724-a50c-61e74ffc4fac",{"id":1701,"createTime":28,"updateTime":28,"relativeEntities":1703,"slug":28,"properties":1704,"entityType":28,"verifyStatus":28,"verifyTime":28,"verifyNote":28,"languages":28,"translateLanguages":28,"viewCount":28,"url":28,"parentIds":1707,"statistic":28},[],{"title":1705},{"VI":1706},"Genome Damage and Stability Centre, University of Sussex, Falmer, UK",[],{"title":1709},{"VI":1710},"Alan R Lehmann",{"id":1712,"sortIndex":40,"researcher":28,"roles":1713,"affiliations":1714,"properties":1723,"displayName":1725,"givenName":28,"familyName":28},"ba91f775-89eb-4495-acec-5e28021dc421",[1016],[1715],{"id":1716,"sortIndex":32,"affiliation":1717,"properties":28},"4b0875c2-4fed-4123-8b74-5d1fce622d60",{"id":1716,"createTime":28,"updateTime":28,"relativeEntities":1718,"slug":28,"properties":1719,"entityType":28,"verifyStatus":28,"verifyTime":28,"verifyNote":28,"languages":28,"translateLanguages":28,"viewCount":28,"url":28,"parentIds":1722,"statistic":28},[],{"title":1720},{"VI":1721},"Department of Photodermatology, St Thomas' Hospital, London, UK",[],{"title":1724},{"VI":1725},"David McGibbon",{"id":1727,"sortIndex":123,"researcher":28,"roles":1728,"affiliations":1729,"properties":1738,"displayName":1740,"givenName":28,"familyName":28},"f8089a24-5037-4294-9209-03fdf8761c5b",[1016],[1730],{"id":1731,"sortIndex":32,"affiliation":1732,"properties":28},"64ee2a4b-1043-486f-b617-088dd04ad424",{"id":1731,"createTime":28,"updateTime":28,"relativeEntities":1733,"slug":28,"properties":1734,"entityType":28,"verifyStatus":28,"verifyTime":28,"verifyNote":28,"languages":28,"translateLanguages":28,"viewCount":28,"url":28,"parentIds":1737,"statistic":28},[],{"title":1735},{"VI":1736},"Istituto di Genetica Molecolare, Consiglio Nazionale delle Ricerche, Pavia, Italy",[],{"title":1739},{"VI":1740},"Miria Stefanini",{"url":1694,"publisher":1742,"properties":1791},{"id":868,"createTime":869,"updateTime":870,"relativeEntities":1743,"slug":872,"properties":1744,"entityType":25,"verifyStatus":880,"verifyTime":28,"verifyNote":28,"languages":28,"translateLanguages":28,"viewCount":32,"subjectFields":1747,"manageAffiliations":1760,"indexDatabases":1771,"url":28,"thumbnailPath":28,"statistic":1786,"gsStatistic":28,"type":55,"analyzePriority":28},[],{"issn":1745,"title":1746},{"VOID":875},{"EN":877},[1748,1752,1756],{"id":883,"createTime":28,"updateTime":28,"relativeEntities":1749,"label":1750,"description":1751,"parentId":28,"standard":28,"scholarHubFieldId":28},[],{"EN":886},{},{"id":889,"createTime":28,"updateTime":28,"relativeEntities":1753,"label":1754,"description":1755,"parentId":28,"standard":28,"scholarHubFieldId":28},[],{"EN":892},{},{"id":895,"createTime":28,"updateTime":28,"relativeEntities":1757,"label":1758,"description":1759,"parentId":28,"standard":28,"scholarHubFieldId":28},[],{"EN":898},{},[1761,1766],{"id":902,"createTime":28,"updateTime":28,"relativeEntities":1762,"slug":28,"properties":1763,"entityType":28,"verifyStatus":28,"verifyTime":28,"verifyNote":28,"languages":28,"translateLanguages":28,"viewCount":28,"url":28,"parentIds":1765,"statistic":28},[],{"title":1764},{"EN":906},[],{"id":909,"createTime":28,"updateTime":28,"relativeEntities":1767,"slug":28,"properties":1768,"entityType":28,"verifyStatus":28,"verifyTime":28,"verifyNote":28,"languages":28,"translateLanguages":28,"viewCount":28,"url":28,"parentIds":1770,"statistic":28},[],{"title":1769},{"EN":913},[],[1772,1779],{"id":917,"indexDatabase":1773,"url":923,"indexYears":924,"academicFieldIds":1778,"indexDatabaseRanking":929},{"id":775,"createTime":28,"updateTime":28,"relativeEntities":1774,"label":1775,"description":1776,"key":781,"publicationTags":1777,"standard":28},[],{"EN":778,"VI":778},{"EN":778,"VI":780},[783],[926,927,928],{"id":931,"indexDatabase":1780,"url":943,"indexYears":28,"academicFieldIds":1785,"indexDatabaseRanking":28},{"id":933,"createTime":28,"updateTime":28,"relativeEntities":1781,"label":1782,"description":1783,"key":940,"publicationTags":1784,"standard":28},[],{"EN":936,"VI":936},{"EN":938,"VI":939},[942,813],[945,946],{"impactFactor":32,"impactFactorByYear":1787,"i10Index":954,"i10IndexLast5Year":600,"totalPublication":955,"totalPublicationByYear":1788,"totalCitation":965,"totalCitationByYear":1789,"totalCitationPerPublication":982,"totalCitationPerPublicationByYear":1790,"hindexLast5Year":151,"hindex":151},{"2012":440,"2013":172,"2014":949,"2015":173,"2016":950,"2017":120,"2018":171,"2019":951,"2020":952,"2021":293,"2022":953,"2023":115},{"2006":352,"2007":278,"2008":140,"2009":130,"2010":159,"2011":158,"2012":957,"2013":958,"2014":959,"2015":960,"2016":154,"2017":430,"2018":961,"2019":578,"2020":571,"2021":962,"2022":963,"2023":964,"2024":600},{"2006":967,"2007":968,"2008":969,"2009":970,"2010":328,"2011":971,"2012":972,"2013":973,"2014":974,"2015":975,"2016":976,"2017":977,"2018":978,"2019":979,"2020":980,"2021":981,"2022":961},{"2006":984,"2007":985,"2008":986,"2009":987,"2010":367,"2011":988,"2012":989,"2013":990,"2014":627,"2015":991,"2016":992,"2017":376,"2018":377,"2019":635,"2020":343,"2021":342,"2022":119},{"pages":1792,"volume":1794},{"VOID":1793},"1-6",{"VOID":1795},"6","2011-11-01",2011,[942,929],{"id":1800,"createTime":1801,"updateTime":1801,"relativeEntities":1802,"slug":28,"properties":1803,"entityType":1010,"verifyStatus":880,"verifyTime":28,"verifyNote":28,"languages":28,"translateLanguages":28,"viewCount":32,"primaryUrl":1812,"fullTextUrl":28,"authors":1813,"publicationType":1071,"publisherRelationship":1965,"citationCount":28,"citationInfo":28,"publishDate":2018,"publishYear":1128,"citationAnalyzeStatus":880,"lastCitationAnalyze":28,"indexDatabases":2019,"openAccess":28,"references":28,"isForceReanalyzing":1130},"015dbd51-1252-436d-b905-69e55e9dbf9a","2023-12-24T13:13:32.441+00:00",[],{"abstract":1804,"title":1806,"references":1808,"doi":1810},{"EN":1805},"Mucopolysaccharidosis (MPS) Type I (MPSI) is caused by mutations in the gene encoding the lysosomal enzyme, α-L-iduronidase (IDUA), and a majority of patients present with severe neurodegeneration and cognitive impairment. Recombinant IDUA does not cross the blood-brain barrier (BBB). To enable BBB transport, IDUA was re-engineered as an IgG-IDUA fusion protein, valanafusp alpha, where the IgG domain targets the BBB human insulin receptor to enable transport of the enzyme into the brain. We report the results of a 52-week clinical trial on the safety and efficacy of valanafusp alpha in pediatric MPSI patients with cognitive impairment. In the phase I trial, 6 adults with attenuated MPSI were administered 0.3, 1, and 3 mg\u002Fkg doses of valanafusp alpha by intravenous (IV) infusion. In the phase II trial, 11 pediatric subjects, 2-15 years of age, were treated for 52 weeks with weekly IV infusions of valanafusp alpha at 1, 3, or 6 mg\u002Fkg. Assessments of adverse events, cognitive stabilization, and somatic stabilization were made. Outcomes at 52 weeks were compared to baseline. Drug related adverse events included infusion related reactions, with an incidence of 1.7%, and transient hypoglycemia, with an incidence of 6.4%. The pediatric subjects had CNS involvement with a mean enrollment Development Quotient (DQ) of 36.1±7.1. The DQ, and the cortical grey matter volume of brain, were stabilized by valanafusp alpha treatment. Somatic manifestations were stabilized, or improved, based on urinary glycosaminoglycan levels, hepatic and spleen volumes, and shoulder range of motion. Clinical evidence of the cognitive and somatic stabilization indicates that valanafusp alpha is transported into both the CNS and into peripheral organs due to its dual targeting mechanism via the insulin receptor and the mannose 6-phosphate receptor. This novel fusion protein offers a pharmacologic approach to the stabilization of cognitive function in MPSI. Clinical Trials.Gov, \n                    NCT03053089\n                    \n                  . Retrospectively registered 9 February, 2017; Clinical Trials.Gov, \n                    NCT03071341\n                    \n                  . Registered 6 March, 2017.",{"EN":1807},"Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (valanafusp alpha): an open label phase 1-2 trial",{"VOID":1809},"Kakkis ED, Muenzer J, Tiller GE, Waber L, Belmont J, Passage M, et al. Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med. 2001;344(3):182–8.\nWraith JE, Clarke LA, Beck M, Kolodny EH, Pastores GM, Muenzer J, et al. Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). J Pediatr. 2004;144(5):581–8.\nPastores GM, Arn P, Beck M, Clarke JT, Guffon N, Kaplan P, et al. The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I. Mol Genet Metab. 2007;91(1):37–47.\nWraith JE, Beck M, Lane R, van der Ploeg A, Shapiro E, Xue Y, et al. Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase). Pediatrics. 2007;120(1):e37–46.\nBoado RJ, Pardridge WM. Brain and Organ Uptake in the Rhesus Monkey in Vivo of Recombinant Iduronidase Compared to an Insulin Receptor Antibody-Iduronidase Fusion Protein. Mol Pharm. 2017;14(4):1271–7.\nAldenhoven M, Wynn RF, Orchard PJ, O'Meara A, Veys P, Fischer A, et al. Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study. Blood. 2015;125(13):2164–72.\nKunin-Batson AS, Shapiro EG, Rudser KD, Lavery CA, Bjoraker KJ, Jones SA, et al. Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation. JIMD Rep. 2016;29:95–102.\nBoado RJ, Zhang Y, Zhang Y, Xia CF, Wang Y, Pardridge WM. Genetic engineering of a lysosomal enzyme fusion protein for targeted delivery across the human blood-brain barrier. Biotechnol Bioeng. 2008;99(2):475–84.\nBoado RJ, Hui EK, Lu JZ, Pardridge WM. AGT-181: expression in CHO cells and pharmacokinetics, safety, and plasma iduronidase enzyme activity in Rhesus monkeys. J Biotechnol. 2009;144(2):135–41.\nBoado RJ, Hui EK, Lu JZ, Zhou QH, Pardridge WM. Reversal of lysosomal storage in brain of adult MPS-I mice with intravenous Trojan horse-iduronidase fusion protein. Mol Pharm. 2011;8(4):1342–50.\nPardridge WM, Boado RJ, Giugliani R, Schmidt M. Plasma Pharmacokinetics of Valanafusp Alpha, a Human Insulin Receptor Antibody-Iduronidase Fusion Protein, in Patients with Mucopolysaccharidosis Type I. BioDrugs. 2018;32:169–76.\nBoado RJ, Hui EK, Lu JZ, Pardridge WM. IgG-enzyme fusion protein: pharmacokinetics and anti-drug antibody response in rhesus monkeys. Bioconjug Chem. 2013;24(1):97–104.\nDickerman MJ, Jacobs BR, Vinodrao H, Stockwell DC. Recognizing hypoglycemia in children through automated adverse-event detection. Pediatrics. 2011;127(4):e1035–41.\nvan der Lee JH, Morton J, Adams HR, Clarke L, Ebbink BJ, Escolar ML, et al. Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure. Mol Genet Metab. 2017;121(2):70–9.\nBoado RJ, Lu JZ, Hui EK, Pardridge WM. Reduction in Brain Heparan Sulfate with Systemic Administration of an IgG Trojan Horse-Sulfamidase Fusion Protein in the Mucopolysaccharidosis Type IIIA Mouse. Mol Pharm. 2018;15(2):602–8.\nShapiro EG, Whitley CB, Eisengart JB. Beneath the floor: re-analysis of neurodevelopmental outcomes in untreated Hurler syndrome. Orphanet J Rare Dis. 2018;13:76.\nBoado RJ, Hui EK, Lu JZ, Pardridge WM. Glycemic control and chronic dosing of rhesus monkeys with a fusion protein of iduronidase and a monoclonal antibody against the human insulin receptor. Drug Metab Dispos. 2012;40(10):2021–5.\nXue Y, Richards SM, Mahmood A, Cox GF. Effect of anti-laronidase antibodies on efficacy and safety of laronidase enzyme replacement therapy for MPS I: A comprehensive meta-analysis of pooled data from multiple studies. Mol Genet Metab. 2016;117(4):419–26.\nShapiro EG, Nestrasil I, Rudser K, Delaney K, Kovac V, Ahmed A, et al. Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment. Mol Genet Metab. 2015;116(1-2):61–8.\nFan Z, Styner M, Muenzer J, Poe M, Escolar M. Correlation of automated volumetric analysis of brain MR imaging with cognitive impairment in a natural history study of mucopolysaccharidosis II AJNR. Am J Neuroradiol. 2010;31(7):1319–23.\nZhang H, Young SP, Auray-Blais C, Orchard PJ, Tolar J, et al. Analysis of glycosaminoglycans in cerebrospinal fluid from patients with Mucopolysaccharidosis by isotope-dilution ultra-performance liquid chromatography-tandem mass spectrometry. Clin Chem. 2011;57:1005–12.\nTardieu M, Zerah M, Gougeon M-L, Ausseil J, de Bournonville S, et al. Intracerebral gene therapy in children with mucopolysaccharidosis type IIIB syndrome: an uncontrolled phase 1\u002F2 clinical trial. Lancet Neurol. 2017;16:712–20.\nMuenzer J, Hendriksz CJ, Fan Z, Vijayaraghavan S, Perry V, Santra S, et al. A phase I\u002FII study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis II. Genet Med. 2016;18(1):73–81.\nJones SA, Breen C, Heap F, Rust S, de Ruijter J, Tump E, et al. A phase 1\u002F2 study of intrathecal heparan-N-sulfatase in patients with mucopolysaccharidosis IIIA. Mol Genet Metab. 2016;118(3):198–205.\nAuclair D, Finnie J, Walkley SU, White J, Nielsen T, Fuller M, et al. Intrathecal recombinant human 4-sulfatase reduces accumulation of glycosaminoglycans in dura of mucopolysaccharidosis VI cats. Pediatr Res. 2012;71(1):39–45.\nBoado RJ, Hui EK, Lu JZ, Pardridge WM. Very High Plasma Concentrations of a Monoclonal Antibody against the Human Insulin Receptor Are Produced by Subcutaneous Injection in the Rhesus Monkey. Mol Pharm. 2016;13(9):3241–6.\nGiugliani R, Rojas VM, Martins AM, Valadares ER, Clarke JT, Goes JE, et al. A dose-optimization trial of laronidase (Aldurazyme) in patients with mucopolysaccharidosis I. Mol Genet Metab. 2009;96(1):13–9.\nMuenzer J, Beck M, Eng CM, Giugliani R, Harmatz P, Martin R, et al. Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome. 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CAVC is an uncommon congenital heart disease, accounting for about 3% of cardiac malformations. Atrioventricular canal occurs in two out of every 10,000 live births. Both sexes are equally affected and a striking association with Down syndrome was found. Depending on the morphology of the superior leaflet of the common atrioventricular valve, 3 types of CAVC have been delineated (type A, B and C, according to Rastelli's classification). CAVC results in a significant interatrial and interventricular systemic-to-pulmonary shunt, thus inducing right ventricular pressure and volume overload and pulmonary hypertension. It becomes symptomatic in infancy due to congestive heart failure and failure to thrive. Diagnosis of CAVC might be suspected from electrocardiographic and chest X-ray findings. Echocardiography confirms it and gives anatomical details. Over time, pulmonary hypertension becomes irreversible, thus precluding the surgical therapy. This is the reason why cardiac catheterisation is not mandatory in infants (less than 6 months) but is indicated in older patients if irreversible pulmonary hypertension is suspected. Medical treatment (digitalis, diuretics, vasodilators) plays a role only as a bridge toward surgery, usually performed between the 3rd and 6th month of life.",{"EN":2030},"Complete atrioventricular canal",{"VOID":2032},"Flyer DC: Endocardial cushion defects. Nadas' Pediatric Cardiology. Edited by: Fyler DC. Hanley & Belfus, Inc., Philadelphia; 1992:577-589.\nFerencz C, Loffredo CA, Correa-Villasenor A, Wilson PD: Genetic and Environmental Risk Factors of Major Cardiovascular Malformations: The Baltimore-Washington Infant Study 1981–1989. Edited by: Anderson RH Armonk N. Futura Publishing Co Inc; 1997.\nKim JS, Viragh S, Moorman AF, Anderson RH, Lamers WH: Development of the myocardium of the atrioventricular canal and the vestibular spine in the human heart. Circ Res. 2001, 88: 395-402.\nRastelli GC, Kirklin JW, Titus JL: Anatomic observations on complete form of common atrioventricular canal with special reference to atrioventricular valves. Mayo Clinic Proc. 1966, 41: 296.\nMarino B, Vairo U, Corno A, Nava S, Guccione P, Calbro R, Marcelletti C: Atrioventricular canal in Down syndrome. Prevalence of associated cardiac malformations compared with patients without Down syndrome. Am J Dis Child. 1990, 144: 1120-1122.\nDigilio MC, Marino B, Toscano A, Giannotti A, Dallapiccola B: Atrioventricular canal defect without Down syndrome: a heterogeneous malformation. Am J Med Genet. 1999, 85: 140-146. 10.1002\u002F(SICI)1096-8628(19990716)85:2\u003C140::AID-AJMG8>3.0.CO;2-A.\nDe Biase L, Di Ciommo V, Ballerini L, Bevilacqua M, Marcelletti C, Marino B: Prevalence of left-sided obstructive lesions in patients with atrioventricular canal without Down's syndrome. J Thorac Cardiovasc Surg. 1986, 91: 467-479.\nPenkoske PA, Neches WH, Anderson RH, Zuberbuhler JR: Further observations on the morphology of atrioventricular septal defects. J Thorac Cardiovasc Surg. 1985, 90: 611-622.\nFalcão S, Daliento L, Ho SY, Rigby ML, Anderson RH: Cross sectional echocardiographic assessment of the extent of the atrial septum relative to the atrioventricular junction in atrioventricular septal defect. Heart. 1999, 81: 199-205.\nEbels T, Ho SY, Anderson RH, Meijboom EJ, Eijgelaar A: The surgical anatomy of the left ventricular outflow tract in atrioventricular septal defect. Ann Thorac Surg. 1986, 41: 483-488.\nAnderson RH, Ho SY, Falcao S, Daliento L, Rigby ML: The diagnostic features of atrioventricular septal defect with common atrioventricular junction. Cardiol Young. 1998, 8: 33-49.\nAnderson RH, Zuerbuhler JR, Penkoske PA, Neches WH: Of clefts, commisssures, and things. J Thorac Cardiovasc Surg. 1985, 90: 605-610.\nMarsico F, Violini R, Calabrò R, et al: Atrioventricular septal defects. Natural history and clinical picture. Pediatric Cardiology – Atrioventricular Septal Defects. Edited by: Quero Jimenez M, Arteaga Martinez M. Ediciones Norma, Madrid; 1988:194-203.\nSantoro G, Marino B, Di Carlo D, Formigari R, Santoro G, Marcelletti C, Pasquini L: Patient selection for repair of complete atrioventricular canal guided by echocardiography. Eur J Cardio-Thorac Surg. 1996, 10: 439-442. 10.1016\u002FS1010-7940(96)80112-6.\nBerger TJ, Blackstone EH, Kirklin JW: Survival and probability of cure without and with surgery in complete atrioventricular canal. Ann Thorac Surg. 1979, 27: 104-111.\nTrachte AL, Lobato EB, Urdaneta F, Hess PJ, Klodell CT, Martin TD, Staples ED, Beaver TM: Oral sildenafil reduces pulmonary hypertension after cardiac surgery. Ann Thorac Surg. 2005, 79: 194-197. 10.1016\u002Fj.athoracsur.2004.06.086.\nCrawford FA Jr, Stroud MR: Surgical repair of complete atrioventricular septal defect. Ann Thorac Surg. 2001, 72: 1621-1628. 10.1016\u002FS0003-4975(01)03170-8.\nAtrioventricular canal defect. Cardiac Surgery. Edited by: Kirklin JW, Barratt-Boyes BG. Churchill Livingstone, UK; 1993:749-825.\nWilcox BR, Jones DR, Frantz EG, Brink LW, Henry GW, Mill MR, Anderson RH: Anatomically sound, simplified approach to repair of \"complete\" atrioventricular septal defect. Ann Thorac Surg. 1997, 64: 487-493. 10.1016\u002FS0003-4975(97)00566-3.\nBoening A, Scheewe J, Heine K, Hedderich J, Regensburger D, Kramer HH, Cremer J: Long term results after surgical correction of atrioventricular septal defects. Eur J Cardiothorac Surg. 2002, 22: 167-173. 10.1016\u002FS1010-7940(02)00272-5.\nMerrill WH, Hoff SJ, Bender HW Jr: The surgical treatment of atrioventricular septal defects. Pediatric Cardiac Surgery 2nd edition. Edited by: Mavroudis C, Backer CL. Mosby Year Book, Inc. St Louis, Missouri, USA; 1994:225-237.\nGunther T, Mazzitelli D, Haehnel CJ, Holper K, Sebening F, Meisner H: Long-term results after repair of complete atrio-ventricular septal defects: analysis of risk factors. Ann Thorac Surg. 1998, 65: 754-759. 10.1016\u002FS0003-4975(98)00028-9.\nNajm HK, Coles JG, Endo M, Stephens D, Rebeyka IM, Williams WG, Freedom RM: Complete atrioventricular septal defects: results of repair, risk factors and freedom from reoperation. Circulation. 1997, 96: 311-315.\nBando K, Turrentine MW, Sun K, Sharp TG, Ensing GJ, Miller AP, Kesler KA, Binford RS, Carlos GN, Hurwitz RA, et al: Surgical management of complete atrioventricular septal defects. A twenty-year experience. J Thorac Cardiovac Surg. 1995, 110: 1543-1552. 10.1016\u002FS0022-5223(95)70078-1.\nde la Cruz MV, Markwald RR: Living Morphogenesis of the Heart. Edited by: Markwald R, de La Cruz M, Markwald R. Springer-Verlag; New York; 1998:223.\nPierpont ME, Markwald RR, Lin AE: Genetic aspects of atrioventricular septal defects. Am J Med Genet. 2000, 974: 289-296. 10.1002\u002F1096-8628(200024)97:4\u003C289::AID-AJMG1279>3.0.CO;2-U.\nBouman HG, Broekhuizen ML, Baasten AM, Gittenberger-de Groot AC, Wenink AC: Diminished growth of atrioventricular cushion tissue in stage 24 retinoic-treated chicken embryos. Dev Dyn. 1998, 213: 50-58. 10.1002\u002F(SICI)1097-0177(199809)213:1\u003C50::AID-AJA5>3.0.CO;2-X.\nSantoro G, Ambrosio G, Formigari R, Marcelletti C, Chiariello M, Marino B: Low level of myocardial Superoxide Dismutase in patients with atrioventricularcanal. J Am Coll Cardiol. 1994, 23: 306A.\nSaphier CJ, Yeh J: Altered apoptosis levels in hearts of human fetuses with Down syndrome. Am J Obstet Gynecol. 1998, 179: 962-965. 10.1016\u002FS0002-9378(98)70197-8.\nHarrelson Z, Kelly RG, Goldin SN, Gibson-Brown JJ, Bollag RJ, Silver LM, Papaioannou VE: Tbx2 is essential for patterning the atrioventricular canal and for morphogenesis of the outflow tract during heart development. Development. 2004, 131: 5041-5052. 10.1242\u002Fdev.01378.\nWang B, Weidenfeld J, Lu MM, Maika S, Kuziel WA, Morrisey EE, Tucker PW: Foxp1 regulates cardiac outflow tract, endocardial cushion morphogenesis and myocyte proliferation and maturation. Development. 2004, 131: 4477-4487. 10.1242\u002Fdev.01287.\nCamenisch TD, Schroeder JA, Bradley J, Klewer SE, McDonald JA: Heart-valve mesenchyme formation is dependent on hyaluronan-augmented activation of ErbB2-ErbB3 receptors. Nat Med. 2002, 8: 850-855.\nCarmi R, Boughman JA, Ferencz C: Endocardial cushion defect: further studies of \"isolated\" versus \"syndromic\" occurrence. Am J Med Genet. 1992, 43: 569-575. 10.1002\u002Fajmg.1320430313.\nMarino B, Reale A, Giannotti A, Digilio MC, Dallapiccola B: Nonrandom association of atrioventricular canal and del(8p) syndrome. Am J Med Genet. 1992, 42: 424-427. 10.1002\u002Fajmg.1320420404.\nFrancalanci P, Marino B, Boldrini R, Abella R, Iorio F, Bosman C: Morphology of the atrioventricular valve in asplenia syndrome: a peculiar type of atrioventicular canal defect. Cardiovasc Pathol. 1996, 5: 145-151. 10.1016\u002F1054-8807(95)00117-4.\nLoffredo CA, Hirata J, Wilson PD, Ferencz C, Lurie IW: Atrioventricular septal defects: possible etiologic differences between complete and partial defects. Teratology. 2001, 63: 87-93. 10.1002\u002F1096-9926(200102)63:2\u003C87::AID-TERA1014>3.0.CO;2-5.\nRose V, Izukawa T, Moes CA: Syndromes of asplenia and polysplenia. A review of cardiac and non-cardiac malformations in 60 cases with special reference to diagnosis and prognosis. Br Heart J. 1975, 37: 840-852.\nNora JJ, Nora AH: Maternal transmission of congenital heart diseases: new recurrence risk figures and the questions of cytoplasmic inheritance and vulnerability to teratogens. Am J Cardiol. 1987, 59: 459-463. 10.1016\u002F0002-9149(87)90956-8.\nDelisle MF, Sandor GG, Tessier F, Farquharson DF: Outcome of fetuses diagnosed with atrioventricular septal defect. Obstet Gynecol. 1999, 94: 763-767. 10.1016\u002FS0029-7844(99)00389-0.",{"VOID":2034},"10.1186\u002F1750-1172-1-8","https:\u002F\u002Fojrd.biomedcentral.com\u002Farticles\u002F10.1186\u002F1750-1172-1-8",[2037,2052],{"id":2038,"sortIndex":32,"researcher":28,"roles":2039,"affiliations":2040,"properties":2049,"displayName":2051,"givenName":28,"familyName":28},"93bde1fe-9d21-4e95-b1d8-e394506265bf",[1016],[2041],{"id":2042,"sortIndex":32,"affiliation":2043,"properties":28},"ca6b8f5f-a375-49b3-af6e-dd5a793e5144",{"id":2042,"createTime":28,"updateTime":28,"relativeEntities":2044,"slug":28,"properties":2045,"entityType":28,"verifyStatus":28,"verifyTime":28,"verifyNote":28,"languages":28,"translateLanguages":28,"viewCount":28,"url":28,"parentIds":2048,"statistic":28},[],{"title":2046},{"VI":2047},"Cardiologia pediatrica, Azienda Ospedaliera Monaldi, Via Bianchi Leonardo, Napoli, Italy",[],{"title":2050},{"VI":2051},"Raffaele Calabrò",{"id":2053,"sortIndex":40,"researcher":28,"roles":2054,"affiliations":2055,"properties":2062,"displayName":2064,"givenName":28,"familyName":28},"c9088a39-cfbc-4f07-82ad-959ed30fa829",[1016],[2056],{"id":2042,"sortIndex":32,"affiliation":2057,"properties":28},{"id":2042,"createTime":28,"updateTime":28,"relativeEntities":2058,"slug":28,"properties":2059,"entityType":28,"verifyStatus":28,"verifyTime":28,"verifyNote":28,"languages":28,"translateLanguages":28,"viewCount":28,"url":28,"parentIds":2061,"statistic":28},[],{"title":2060},{"VI":2047},[],{"title":2063},{"VI":2064},"Giuseppe Limongelli",{"url":2035,"publisher":2066,"properties":2115},{"id":868,"createTime":869,"updateTime":870,"relativeEntities":2067,"slug":872,"properties":2068,"entityType":25,"verifyStatus":880,"verifyTime":28,"verifyNote":28,"languages":28,"translateLanguages":28,"viewCount":32,"subjectFields":2071,"manageAffiliations":2084,"indexDatabases":2095,"url":28,"thumbnailPath":28,"statistic":2110,"gsStatistic":28,"type":55,"analyzePriority":28},[],{"issn":2069,"title":2070},{"VOID":875},{"EN":877},[2072,2076,2080],{"id":883,"createTime":28,"updateTime":28,"relativeEntities":2073,"label":2074,"description":2075,"parentId":28,"standard":28,"scholarHubFieldId":28},[],{"EN":886},{},{"id":889,"createTime":28,"updateTime":28,"relativeEntities":2077,"label":2078,"description":2079,"parentId":28,"standard":28,"scholarHubFieldId":28},[],{"EN":892},{},{"id":895,"createTime":28,"updateTime":28,"relativeEntities":2081,"label":2082,"description":2083,"parentId":28,"standard":28,"scholarHubFieldId":28},[],{"EN":898},{},[2085,2090],{"id":902,"createTime":28,"updateTime":28,"relativeEntities":2086,"slug":28,"properties":2087,"entityType":28,"verifyStatus":28,"verifyTime":28,"verifyNote":28,"languages":28,"translateLanguages":28,"viewCount":28,"url":28,"parentIds":2089,"statistic":28},[],{"title":2088},{"EN":906},[],{"id":909,"createTime":28,"updateTime":28,"relativeEntities":2091,"slug":28,"properties":2092,"entityType":28,"verifyStatus":28,"verifyTime":28,"verifyNote":28,"languages":28,"translateLanguages":28,"viewCount":28,"url":28,"parentIds":2094,"statistic":28},[],{"title":2093},{"EN":913},[],[2096,2103],{"id":917,"indexDatabase":2097,"url":923,"indexYears":924,"academicFieldIds":2102,"indexDatabaseRanking":929},{"id":775,"createTime":28,"updateTime":28,"relativeEntities":2098,"label":2099,"description":2100,"key":781,"publicationTags":2101,"standard":28},[],{"EN":778,"VI":778},{"EN":778,"VI":780},[783],[926,927,928],{"id":931,"indexDatabase":2104,"url":943,"indexYears":28,"academicFieldIds":2109,"indexDatabaseRanking":28},{"id":933,"createTime":28,"updateTime":28,"relativeEntities":2105,"label":2106,"description":2107,"key":940,"publicationTags":2108,"standard":28},[],{"EN":936,"VI":936},{"EN":938,"VI":939},[942,813],[945,946],{"impactFactor":32,"impactFactorByYear":2111,"i10Index":954,"i10IndexLast5Year":600,"totalPublication":955,"totalPublicationByYear":2112,"totalCitation":965,"totalCitationByYear":2113,"totalCitationPerPublication":982,"totalCitationPerPublicationByYear":2114,"hindexLast5Year":151,"hindex":151},{"2012":440,"2013":172,"2014":949,"2015":173,"2016":950,"2017":120,"2018":171,"2019":951,"2020":952,"2021":293,"2022":953,"2023":115},{"2006":352,"2007":278,"2008":140,"2009":130,"2010":159,"2011":158,"2012":957,"2013":958,"2014":959,"2015":960,"2016":154,"2017":430,"2018":961,"2019":578,"2020":571,"2021":962,"2022":963,"2023":964,"2024":600},{"2006":967,"2007":968,"2008":969,"2009":970,"2010":328,"2011":971,"2012":972,"2013":973,"2014":974,"2015":975,"2016":976,"2017":977,"2018":978,"2019":979,"2020":980,"2021":981,"2022":961},{"2006":984,"2007":985,"2008":986,"2009":987,"2010":367,"2011":988,"2012":989,"2013":990,"2014":627,"2015":991,"2016":992,"2017":376,"2018":377,"2019":635,"2020":343,"2021":342,"2022":119},{"pages":2116,"volume":2118},{"VOID":2117},"1-5",{"VOID":2119},"1","2006-04-05",2006,[942,929],{"id":2124,"createTime":2125,"updateTime":2126,"relativeEntities":2127,"slug":2128,"properties":2129,"entityType":1010,"verifyStatus":26,"verifyTime":2126,"verifyNote":1146,"languages":28,"translateLanguages":28,"viewCount":32,"primaryUrl":2138,"fullTextUrl":28,"authors":2139,"publicationType":1071,"publisherRelationship":2384,"citationCount":28,"citationInfo":28,"publishDate":2438,"publishYear":1345,"citationAnalyzeStatus":880,"lastCitationAnalyze":28,"indexDatabases":2439,"openAccess":28,"references":28,"isForceReanalyzing":1130},"01bb690d-2c93-4707-a586-4c8955c6c031","2023-12-13T05:13:29.262+00:00","2025-01-31T18:02:02.664+00:00",[],"Patient-reported-outcomes-in-a-Chinese-cohort-of-osteogenesis-imperfecta-unveil-psycho-physical-stratifications-associated-with-clinical-manifestations",{"abstract":2130,"title":2132,"references":2134,"doi":2136},{"EN":2131},"Osteogenesis imperfecta (OI) is a rare congenital disorder of the skeletal system, inflicting debilitating physical and psychological distress on patients and caregivers. Over the decades, much effort has been channeled towards understanding molecular mechanisms and developing new treatments. It has recently become more apparent that patient-reported outcome measurements (PROM) during treatment, healing and rehabilitation are helpful in facilitating smoother communication, refining intervention strategies and achieving higher quality of life. To date, systematic analyses of PROM in OI patients remain scarce. Here, utilizing a PROM Information System, we report a cross-sectional and longitudinal study in a southern Chinese cohort of 90 OI patients, covering both the child and adult age-groups. In the child group where both self and parental surveys were obtained, we identified two clusters of comparable sizes showing different outlooks in physical mobility and emotional experiences. One cluster (Cluster 1) is more negative about themselves than the other (Cluster 2). A concordance of 84.7% between self and parental assessments was recorded, suggesting the stability and validity of PROM-based stratification. Clinical subtyping, deformity, leg length discrepancy, and limited joint mobility were significantly associated with this stratification, with Cluster 1 showing higher percentages of severe phenotypes than Cluster 2. Since OI is a genetic disorder, we performed genetic testing on 72 of the 90 patients, but found no obvious association between genotypes and the PROM stratification. Analyses of longitudinal data suggested that patients tended to stay in the same psychological state, in both clusters. Adult patients also showed a continuous spectrum of self-evaluation that matches their clinical manifestations. By systematically analyzing patient-reported outcomes, our study demonstrated the link between the sociopsychological wellbeing of OI patients, and their clinical manifestations, which may serve as the basis for evaluating clinical interventions and help achieve better patient-centric medical practices. The lack of genotype-PROM association may be due to the diverse mutational spectrum in OI, which warrants further investigation when a larger sample size is available.",{"EN":2133},"Patient-reported outcomes in a Chinese cohort of osteogenesis imperfecta unveil psycho-physical stratifications associated with clinical manifestations",{"VOID":2135},"Marini JC, Forlino A, Bachinger HP, Bishop NJ, Byers PH, Paepe A, et al. Osteogenesis imperfecta. Nat Rev Dis Primers. 2017;3:17052.\nLindahl K, Astrom E, Rubin CJ, Grigelioniene G, Malmgren B, Ljunggren O, et al. Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. Eur J Hum Genet. 2015;23(8):1042–50.\nMarini JC, Forlino A, Cabral WA, Barnes AM, San Antonio JD, Milgrom S, et al. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat. 2007;28(3):209–21.\nForlino A, Marini JC. Osteogenesis imperfecta. Lancet. 2016;387(10028):1657–71.\nZhytnik L, Maasalu K, Reimann E, Prans E, Koks S, Martson A. Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients. Hum Genomics. 2017;11(1):19.\nLi M, Jiang L, Mak TSH, Kwan JSH, Xue C, Chen P, et al. A powerful conditional gene-based association approach implicated functionally important genes for schizophrenia. Bioinformatics. 2019;35(4):628–35.\nDoyard M, Bacrot S, Huber C, Di Rocco M, Goldenberg A, Aglan MS, et al. FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta. J Med Genet. 2018;55(4):278–84.\nDubail J, Brunelle P, Baujat G, Huber C, Doyard M, Michot C, et al. Homozygous loss-of-function mutations in CCDC134 are responsible for a severe form of osteogenesis imperfecta. J Bone Miner Res. 2020;35(8):1470–80.\nMoosa S, Yamamoto GL, Garbes L, Keupp K, Beleza-Meireles A, Moreno CA, et al. Autosomal-recessive mutations in MESD Cause Osteogenesis Imperfecta. Am J Hum Genet. 2019;105(4):836–43.\nVan Dijk FS, Sillence DO. Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A. 2014;164A(6):1470–81.\nSillence DO, Rimoin DL, Danks DM. Clinical variability in osteogenesis imperfecta-variable expressivity or genetic heterogeneity. Birth Defects Orig Artic Ser. 1979;15(5B):113–29.\nSillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979;16(2):101–16.\nBen Amor IM, Glorieux FH, Rauch F. Genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta. J Osteoporos. 2011;2011:540178.\nShi J, Ren M, Jia J, Tang M, Guo Y, Ni X, et al. Genotype-phenotype association analysis reveals new pathogenic factors for osteogenesis imperfecta disease. Front Pharmacol. 2019;10:1200.\nLiang X, Chen P, Chen C, Che W, Yang Y, Tan Z, et al. Comprehensive risk assessments and anesthetic management for children with osteogenesis imperfecta: A retrospective review of 252 orthopedic procedures over 5 years. Paediatr Anaesth. 2022;32:851.\nHald JD, Folkestad L, Harslof T, Brixen K, Langdahl B. Health-related quality of life in adults with osteogenesis imperfecta. Calcif Tissue Int. 2017;101(5):473–8.\nGooijer K, Harsevoort AGJ, van Dijk FS, Withaar HR, Janus GJM, Franken AAM. A Baseline measurement of quality of life in 322 adults with osteogenesis imperfecta. JBMR Plus. 2020;4(12):e10416.\nForestier-Zhang L, Watts L, Turner A, Teare H, Kaye J, Barrett J, et al. Health-related quality of life and a cost-utility simulation of adults in the UK with osteogenesis imperfecta, X-linked hypophosphatemia and fibrous dysplasia. Orphanet J Rare Dis. 2016;11(1):160.\nSzczepaniak-Kubat A, Kurnatowska O, Jakubowska-Pietkiewicz E, Chlebna-Sokol D. Assessment of quality of life of parents of children with osteogenesis imperfecta. Adv Clin Exp Med. 2012;21(1):99–104.\nVanz AP, Felix TM, da Rocha NS, Schwartz IV. Quality of life in caregivers of children and adolescents with Osteogenesis Imperfecta. Health Qual Life Outcomes. 2015;13:41.\nLazow MA, Jaser SS, Cobry EC, Garganta MD, Simmons JH. Stress, depression, and quality of life among caregivers of children with osteogenesis imperfecta. J Pediatr Health Care. 2019;33(4):437–45.\nDahan-Oliel N, Oliel S, Tsimicalis A, Montpetit K, Rauch F, Dogba MJ. Quality of life in osteogenesis imperfecta: a mixed-methods systematic review. Am J Med Genet A. 2016;170A(1):62–76.\nCella D, Riley W, Stone A, Rothrock N, Reeve B, Yount S, et al. The patient-reported outcomes measurement information system (PROMIS) developed and tested its first wave of adult self-reported health outcome item banks: 2005–2008. J Clin Epidemiol. 2010;63(11):1179–94.\nTosi LL, Oetgen ME, Floor MK, Huber MB, Kennelly AM, McCarter RJ, et al. Initial report of the osteogenesis imperfecta adult natural history initiative. Orphanet J Rare Dis. 2015;10:146.\nTosi LL, Floor MK, Dollar CM, Gillies AP, Members of the Brittle Bone Disease C, Hart TS et al. Assessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pilot study. Orphanet J Rare Dis. 2019;14(1):23.\nRauch F, Lalic L, Roughley P, Glorieux FH. Relationship between genotype and skeletal phenotype in children and adolescents with osteogenesis imperfecta. J Bone Miner Res. 2010;25(6):1367–74.\nHarris PA, Taylor R, Minor BL, Elliott V, Fernandez M, O’Neal L, et al. The REDCap consortium: building an international community of software platform partners. J Biomed Inform. 2019;95:103208.\nNijhuis W, Franken A, Ayers K, Damas C, Folkestad L, Forlino A, et al. A standard set of outcome measures for the comprehensive assessment of osteogenesis imperfecta. Orphanet J Rare Dis. 2021;16(1):140.\nLi H. Toward better understanding of artifacts in variant calling from high-coverage samples. Bioinformatics. 2014;30(20):2843–51.\nMcKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20(9):1297–303.\nCingolani P, Platts A, le Wang L, Coon M, Nguyen T, Wang L, et al. A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3. Fly (Austin). 2012;6(2):80–92.\nWang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010;38(16):e164.\nLarsen WA, McCleary SJ. The use of partial residual plots in regression analysis. Technometrics. 1972;14(3):781–90.\nCarvounis CP. Handbook of biostatistics : a review and text. New York: Parthenon Publishing; 2000.\nChen P, Tan Z, Shek HT, Zhang JN, Zhou Y, Yin S, et al. Phenotypic spectrum and molecular basis in a chinese cohort of osteogenesis imperfecta with mutations in type i collagen. Front Genet. 2022;13:816078.\nMadhuri V, Selina A, Loganathan L, Kumar A, Kumar V, Raymond R, et al. Osteogenesis imperfecta: Novel genetic variants and clinical observations from a clinical exome study of 54 Indian patients. Ann Hum Genet. 2021;85(1):37–46.\nLi S, Cao Y, Wang H, Li L, Ren X, Mi H, et al. Genotypic and phenotypic analysis in chinese cohort with autosomal recessive osteogenesis imperfecta. Front Genet. 2020;11:984.\nLiu Y, Asan MD, Lv F, Xu X, Wang J, et al. Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing. Osteoporos Int. 2017;28(10):2985–95.\nEngelbert RH, Beemer FA, van der Graaf Y, Helders PJ. Osteogenesis imperfecta in childhood: impairment and disability—a follow-up study. Arch Phys Med Rehabil. 1999;80(8):896–903.\nDogba MJ, Bedos C, Durigova M, Montpetit K, Wong T, Glorieux FH, et al. The impact of severe osteogenesis imperfecta on the lives of young patients and their parents—a qualitative analysis. BMC Pediatr. 2013;13:153.",{"VOID":2137},"10.1186\u002Fs13023-022-02394-7","https:\u002F\u002Fojrd.biomedcentral.com\u002Farticles\u002F10.1186\u002Fs13023-022-02394-7",[2140,2164,2186,2199,2212,2225,2238,2251,2264,2277,2290,2303,2316,2331,2344,2364],{"id":2141,"sortIndex":32,"researcher":28,"roles":2142,"affiliations":2143,"properties":2161,"displayName":2163,"givenName":28,"familyName":28},"5b01217b-277e-4fcf-91b4-fb8a151a0464",[1016],[2144,2152],{"id":2145,"sortIndex":32,"affiliation":2146,"properties":28},"1b45dfdd-2bee-4551-882b-578f27a66147",{"id":2145,"createTime":28,"updateTime":28,"relativeEntities":2147,"slug":28,"properties":2148,"entityType":28,"verifyStatus":28,"verifyTime":28,"verifyNote":28,"languages":28,"translateLanguages":28,"viewCount":28,"url":28,"parentIds":2151,"statistic":28},[],{"title":2149},{"VI":2150},"Department of Orthopedics and Traumatology, The University of Hong Kong-Shenzhen Hospital (HKU-SZH), Shenzhen, China",[],{"id":2153,"sortIndex":40,"affiliation":2154,"properties":2160},"50851963-3449-4d07-8003-6f219169080c",{"id":2153,"createTime":28,"updateTime":28,"relativeEntities":2155,"slug":28,"properties":2156,"entityType":28,"verifyStatus":28,"verifyTime":28,"verifyNote":28,"languages":28,"translateLanguages":28,"viewCount":28,"url":28,"parentIds":2159,"statistic":28},[],{"title":2157},{"VI":2158},"School of Biomedical Sciences, The University of Hong Kong, Pok Fu Lam, Hong Kong",[],{},{"title":2162},{"VI":2163},"Peikai Chen",{"id":2165,"sortIndex":40,"researcher":28,"roles":2166,"affiliations":2167,"properties":2183,"displayName":2185,"givenName":28,"familyName":28},"b619ebb7-dc4a-42a9-a5d0-39599fbfcd5b",[1016],[2168,2174],{"id":2145,"sortIndex":32,"affiliation":2169,"properties":28},{"id":2145,"createTime":28,"updateTime":28,"relativeEntities":2170,"slug":28,"properties":2171,"entityType":28,"verifyStatus":28,"verifyTime":28,"verifyNote":28,"languages":28,"translateLanguages":28,"viewCount":28,"url":28,"parentIds":2173,"statistic":28},[],{"title":2172},{"VI":2150},[],{"id":2175,"sortIndex":40,"affiliation":2176,"properties":2182},"e4ab7e9b-1357-4ee0-8ae3-dd9069532956",{"id":2175,"createTime":28,"updateTime":28,"relativeEntities":2177,"slug":28,"properties":2178,"entityType":28,"verifyStatus":28,"verifyTime":28,"verifyNote":28,"languages":28,"translateLanguages":28,"viewCount":28,"url":28,"parentIds":2181,"statistic":28},[],{"title":2179},{"VI":2180},"Department of Orthopedics and Traumatology, The 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information is available regarding the burden of living with and managing epidermolysis bullosa, including the distinct challenges faced by patients with different disease types\u002Fsubtypes. A 90-question\u002Fitem survey was developed to collect demographics, diagnostic data, management practices, and burden of illness information for patients with epidermolysis bullosa living in the United States. Recruitment was conducted via email and social media in partnership with epidermolysis bullosa patient advocacy organizations in the United States, and the survey was conducted via telephone interview by a third-party health research firm. Respondents aged ≥ 18 years with a confirmed diagnosis of epidermolysis bullosa or caring for a patient with a confirmed diagnosis of epidermolysis bullosa were eligible to participate in the survey. In total, 156 responses were received from patients (n = 63) and caregivers (n = 93) representing the epidermolysis bullosa types of simplex, junctional, and dystrophic (subtypes: dominant and recessive). A large proportion of patients (21%) and caregivers (32%) reported that the condition was severe or very severe, and 19% of patients and 26% of caregivers reported a visit to an emergency department in the 12 months prior to the survey. Among the types\u002Fsubtypes represented, recessive dystrophic epidermolysis bullosa results in the greatest wound burden, with approximately 60% of patients and caregivers reporting wounds covering > 30% of total body area. Wound care is time consuming and commonly requires significant caregiver assistance. Therapeutic options are urgently needed and reducing the number and severity of wounds was generally ranked as the most important treatment factor. Survey responses demonstrate that epidermolysis bullosa places a considerable burden on patients, their caregivers, and their families. The limitations caused by epidermolysis bullosa mean that both patients and caregivers must make difficult choices and compromises regarding education, career, and home life. Finally, survey results indicate that epidermolysis bullosa negatively impacts quality of life and causes financial burden to patients and their families.",{"EN":2450},"The challenges of living with and managing epidermolysis bullosa: insights from patients and caregivers",{"VOID":2452},"El Hachem M, Zambruno G, Bourdon-Lanoy E, Ciasulli A, Buisson C, Hadj-Rabia S, et al. Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa. Orphanet J Rare Dis. 2014;9:76.\nFine JD. Inherited epidermolysis bullosa. Orphanet J Rare Dis. 2010;5:12.\nMa JE, Hand JL. What's new with common genetic skin disorders? Minerva Pediatr. 2017;69:288–97.\nTabor A, Pergolizzi JV Jr, Marti G, Harmon J, Cohen B, Lequang JA. Raising awareness among healthcare providers about epidermolysis bullosa and advancing toward a cure. J Clin Aesthet Dermatol. 2017;10:36–48.\nFine JD, Bruckner-Tuderman L, Eady RA, Bauer EA, Bauer JW, Has C, et al. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol. 2014;70:1103–26.\nDebra International. Epidermolysis bullosa 2018. http:\u002F\u002Fwww.debra-international.org\u002Fhomepage.html. Accessed 9 Apr 2019.\nFine JD. Epidemiology of inherited epidermolysis bullosa based on incidence and prevalence estimates from the National Epidermolysis Bullosa Registry. JAMA Dermatol. 2016;152:1231–8.\nBruckner-Tuderman L, JA MG, Robinson EC, Uitto J. Progress in epidermolysis bullosa research: summary of DEBRA International research conference 2012. J Invest Dermatol. 2013;133:2121–6.\nUitto J, Bruckner-Tuderman L, Christiano AM, JA MG, Has C, South AP, et al. Progress toward treatment and cure of epidermolysis bullosa: summary of the DEBRA International research symposium EB2015. J Invest Dermatol. 2016;136:352–8.\nGoldschneider KR, Good J, Harrop E, Liossi C, Lynch-Jordan A, Martinez AE, et al. Pain care for patients with epidermolysis bullosa: best care practice guidelines. BMC Med. 2014;12:178.\nvon der Lippe C, Diesen PS, Feragen KB. Living with a rare disorder: a systematic review of the qualitative literature. Mol Genet Genomic Med. 2017;5:758–73.\nAngelis A, Kanavos P, Lopez-Bastida J, Linertova R, Oliva-Moreno J, Serrano-Aguilar P, et al. Social\u002Feconomic costs and health-related quality of life in patients with epidermolysis bullosa in Europe. Eur J Health Econ. 2016;17(suppl 1):31–42.\nPagliarello C, Tabolli S. Factors affecting quality of life in epidermolysis bullosa. Expert Rev Pharmacoecon Outcomes Res. 2010;10:329–38.\nJain SV, Murrell DF. Psychosocial impact of inherited and autoimmune blistering diseases. Int J Womens Dermatol. 2018;4:49–53.\nTabolli S, Pagliarello C, Uras C, Di Pietro C, Zambruno G, Castiglia D, et al. Family burden in epidermolysis bullosa is high independent of disease type\u002Fsubtype. Acta Derm Venereol. 2010;90:607–11.\nFrew JW, Martin LK, Nijsten T, Murrell DF. Quality of life evaluation in epidermolysis bullosa (EB) through the development of the QOLEB questionnaire: an EB-specific quality of life instrument. Br J Dermatol. 2009;161:1323–30.\nDufresne H, Hadj-Rabia S, Bodemer C. Impact of a rare chronic genodermatosis on family daily life: the example of epidermolysis bullosa. Br J Dermatol. 2018;179:1177–8.\nDavila-Seijo P, Hernandez-Martin A, Morcillo-Makow E, de Lucas R, Dominguez E, Romero N, et al. Prioritization of therapy uncertainties in dystrophic Epidermolysis Bullosa: where should research direct to? An example of priority setting partnership in very rare disorders. 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Cost-effectiveness analysis was performed using a life-time state-transition model of the disease’s natural course. Transition probabilities, effectiveness data and costs were derived from retrospective data and prospective follow-up of the Dutch study cohort. The tertiary referral center for Gaucher disease in the Netherlands. The Dutch cohort of patients with GD I. ERT versus standard medical care without ERT in symptomatic patients. Years free of end organ damage (YFEOD) (splenectomy, bone complication, malignancy, multiple complications), quality adjusted life years (QALY), and costs. Over an 85 year lifetime, an untreated GD I patient will generate 48.9 YFEOD and 55.86 QALYs. Starting ERT in a symptomatic patient increases the YFEOD by 12.8 years, while the number of QALYs gained increases by 6.27. The average yearly ERT medication costs range between €124,000 and €258,000 per patient. The lifetime costs of ERT starting in the symptomatic stage are €5,716,473 against €171,780 without ERT, a difference of €5,544,693. Consequently, the extra costs per additional YFEOD or per additional QALY are €434,416 and €884,994 respectively. After discounting effects by 1.5% and costs by 4% and under a reasonable scenario of ERT unit cost reduction by 25%, these incremental cost-effectiveness ratios could decrease to €149,857 and €324,812 respectively. ERT is a highly potential drug for GD I with substantial health gains. The conservatively estimated incremental cost-effectiveness ratios are substantially lower than for Pompe and Fabry disease. We suggest that the high effectiveness has contributed importantly to acceptance of reimbursement of ERT for GD I. The present study may further support discussions on acceptable price limits for ultra-orphan products.",{"EN":2676},"Cost-effectiveness of enzyme replacement therapy for type 1 Gaucher disease",{"VOID":2678},"Biegstraaten M, van Schaik IN, Aerts JM, Hollak CE: 'Non-neuronopathic' Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature. J Inherit Metab Dis. 2008, 31: 337-349. 10.1007\u002Fs10545-008-0832-y.\nGrabowski GA, Petsko GA, Kolodny EH: Gaucher Disease. The Online Metabolic & Molecular Bases of Inherited Disease (Valle D. Edited by: Beaudet AL, Vogelstein B, Kinzler K, Antonarakis SE, Ballabio A. New York: McGraw-Hill; 2010.\nMistry PK, Sirrs S, Chan A, Pritzker MR, Duffy TP, Grace ME, Meeker DP, Goldman ME: Pulmonary hypertension in type 1 Gaucher's disease: genetic and epigenetic determinants of phenotype and response to therapy. Mol Genet Metab. 2002, 77: 91-98. 10.1016\u002FS1096-7192(02)00122-1.\nNeudorfer O, Giladi N, Elstein D, Abrahamov A, Turezkite T, Aghai E, Reches A, Bembi B, Zimran A: Occurrence of Parkinson's syndrome in type I Gaucher disease. QJM. 1996, 89: 691-694. 10.1093\u002Fqjmed\u002F89.9.691.\nde Fost M, vom Dahl S, Weverling GJ, Brill N, Brett S, Haussinger D, Hollak CE: Increased incidence of cancer in adult Gaucher disease in Western Europe. Blood Cells Mol Dis. 2006, 36: 53-58. 10.1016\u002Fj.bcmd.2005.08.004.\nShiran A, Brenner B, Laor A, Tatarsky I: Increased risk of cancer in patients with Gaucher disease. Cancer. 1993, 72: 219-224. 10.1002\u002F1097-0142(19930701)72:1\u003C219::AID-CNCR2820720139>3.0.CO;2-Y.\nRombach SM, Hollak CE, Linthorst GE, Dijkgraaf MG: Cost-effectiveness of enzyme replacement therapy for Fabry disease. Orphanet J Rare Dis. 2013, 8: 29-10.1186\u002F1750-1172-8-29.\nClarke JT, Amato D, Deber RB: Managing public payment for high-cost, high-benefit treatment: enzyme replacement therapy for Gaucher's disease in Ontario. CMAJ. 2001, 165: 595-596.\nDrummond MF: Challenges in the economic evaluation of orphan drugs. Eurohealth. 2008, 14: 16-17.\nConnock M, Burls A, Frew E, Fry-Smith A, Juarez-Garcia A, McCabe C, Wailoo A, Abrams K, Cooper N, Sutton A, O'Hagan A, Moore D: The clinical effectiveness and cost-effectiveness of enzyme replacement therapy for Gaucher's disease: a systematic review. Health Technol Assess. 2006, 10: iii-136.\nWyatt K, Henley W, Anderson L, Anderson R, Nikolaou V, Stein K, Klinger L, Hughes D, Waldek S, Lachmann R, Mehta A, Vellodi A, Logan S: The effectiveness and cost-effectiveness of enzyme and substrate replacement therapies: a longitudinal cohort study of people with lysosomal storage disorders. Health Technol Assess. 2012, 16: 1-543.\nLudbrook J, Royse AG: Analysing clinical studies: principles, practice and pitfalls of Kaplan-Meier plots. ANZJ Surg. 2008, 78: 204-210. 10.1111\u002Fj.1445-2197.2007.04405.x.\nBriggs A, Sculpher M: An introduction to Markov modelling for economic evaluation. Pharmacoeconomics. 1998, 13: 397-409. 10.2165\u002F00019053-199813040-00003.\nDolan P: Modeling valuations for EuroQol health states. Med Care. 1997, 35: 1095-1108. 10.1097\u002F00005650-199711000-00002.\nLamers LM, McDonnell J, Stalmeier PF, Krabbe PF, Busschbach JJ: The Dutch tariff: results and arguments for an effective design for national EQ-5D valuation studies. Health Econ. 2006, 15: 1121-1132. 10.1002\u002Fhec.1124.\nClarke AE, Goldstein MK, Michelson D, Garber AM, Lenert LA: The effect of assessment method and respondent population on utilities elicited for Gaucher disease. Qual Life Res. 1997, 6: 169-184.\nBrown RE, Hutton J, Burrell A: Cost effectiveness of treatment options in advanced breast cancer in the UK. Pharmacoeconomics. 2001, 19: 1091-1102. 10.2165\u002F00019053-200119110-00003.\nAsselman F: Unit Costs in hospitals. 1st edition. Bohn Stafleu van Loghum: Meppel; 2008.\nHakkaart-van Roijen L, Tan SS, Bouwmans CAM: Manual for cost research; methods and unitcosts for economic evaluations in health care, actualized version 2010. Diemen: Handleiding voor kostenonderzoek: methoden en standaard kostprijzen voor economische evaluaties in de gezondheidszorg; 2010.\nBrouwer WB, Niessen LW, Postma MJ, Rutten FF: Need for differential discounting of costs and health effects in cost effectiveness analyses. BMJ. 2005, 331: 446-448. 10.1136\u002Fbmj.331.7514.446.\nGoldblatt J, Fletcher JM, McGill J, Szer J, Wilson M: Enzyme replacement therapy \"drug holiday\": Results from an unexpected shortage of an orphan drug supply in Australia. Blood Cells Mol Dis. 2011, 46 (1): 107-110. 10.1016\u002Fj.bcmd.2010.05.002.\nZimran A, Altarescu G, Elstein D: Nonprecipitous changes upon withdrawal from imiglucerase for Gaucher disease because of a shortage in supply. Blood Cells Mol Dis. 2011, 46 (1): 111-114. 10.1016\u002Fj.bcmd.2010.05.001.\nHollak CE, Aerts JM, Ayme S, Manuel J: Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders. 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