Therapeutic Advances in Chronic Disease

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Novel homozygous mutation of PNLIP gene in congenital pancreatic lipase deficiency: an extended family study
Therapeutic Advances in Chronic Disease - Tập 13 - 2022
Naglaa M. Kamal, Omar I. Saadah, Shahad S. Alheraiti, Ruwayd Attar, Asmaa D. Alsufyani, Moratda H.F. El-Shabrawi, Laila M. Sherief
Introduction: Congenital pancreatic lipase deficiency (MIM 614338) is a rare genetic disorder caused by homozygous mutation in the PNLIP gene. Few cases have been reported worldwide and among them, few cases were genetically confirmed. Patients and methods: A 3-year-old girl presented with abundant greasy diarrhea started at the age of 2 years. Work up of steatorrhea including molecular testing of... hiện toàn bộ
Management of arthropathy in inflammatory bowel diseases
Therapeutic Advances in Chronic Disease - Tập 6 Số 2 - Trang 65-77 - 2015
Rosario Peluso, Francesco Manguso, Maria Vitiello, Salvatore Iervolino, Matteo Nicola Dario Di Minno
The most common extra-intestinal manifestation in patients with inflammatory bowel disease (IBD) is articular involvement, with a prevalence ranging between 17% and 39%. It is frequently characterized by an involvement of the axial joints but may also be associated with peripheral arthritis. The target of therapy in the management of arthritis associated with IBD is to reduce the inflammation and ... hiện toàn bộ
Plasma ST6GAL1 regulates IgG sialylation to control IgA nephropathy progression
Therapeutic Advances in Chronic Disease - Tập 12 - Trang 204062232110486 - 2021
Youxia Liu, Huyan Yu, Shidi Wu, Yang Xia, Congcong Cao, Fanghao Wang, Junya Jia, Tiekun Yan
Background: Our previous study revealed that plasma levels of a-2,6-sialyltransferase 1 (ST6GAL1) were increased in patients with IgA nephropathy (IgAN). ST6GAL1 catalyzes terminal sialylation of IgG to shift the antibody effector function to the anti-inflammatory pattern. However, the role of plasma ST6GAL1 in the progression of IgAN and underlying mechanisms are still unknown. Methods: A total o... hiện toàn bộ
Prescribing in care homes: the role of the geriatrician
Therapeutic Advances in Chronic Disease - Tập 2 Số 6 - Trang 353-358 - 2011
Eileen Burns, Nuala McQuillan
Large numbers of frail elderly people spend some time of their lives in care homes. Increasing age is associated with altered physiology, multiple diagnoses and complex comorbidity, and polypharmacy. Those living in care homes often take larger numbers of medications than those who live in the community and the risk of morbidity as a direct or indirect result of medications is high. Many methods h... hiện toàn bộ
Interstitial lung disease is a major characteristic of anti-KS associated ant-synthetase syndrome
Therapeutic Advances in Chronic Disease - Tập 11 - 2020
Yongpeng Ge, Sizhao Li, Shanshan Li, Linrong He, Xin Lü, Guochun Wang
Background: Anti-KS autoantibodies are rare myositis-specific autoantibodies that have been described to target asparaginyl-transfer RNA synthetase. Methods: Here, we review the published literature on critical issues concerning the detection of anti-KS antibodies and the clinical features associated with their presence. Results: Seven articles are reviewed, in all of which immunoprecipitation was... hiện toàn bộ
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