Clinical Diabetes and Endocrinology
2055-8260
Cơ quản chủ quản: N/A
Các bài báo tiêu biểu
Đái tháo đường mellitus có tính di truyền theo kiểu di truyền trội autosomal, như đái tháo đường khởi phát muộn ở người trẻ (MODY), là một dạng đái tháo đường do di truyền. MODY là một loại đái tháo đường monogenic trong đó nhiều biến thể gen có thể gây ra sự thay đổi chức năng của tế bào beta. Ba hình thức phân loại MODY đã biết nhiều nhất được gây ra bởi các biến đổi ở các gen
Chúng tôi trình bày trường hợp lâm sàng của một bệnh nhân 15 tuổi có tiền sử gia đình bị đái tháo đường mellitus và kiểu hình MODY5 điển hình liên quan đến tuyến tụy và thận, với một đột biến mới, chưa được báo cáo ở gen
MODY5 được đặc trưng bởi một đột biến trong gen
The COVID-19 pandemic has prompted the rapid transition of in-person outpatient care to telemedicine, and clinical training to remote learning. The endocrinology fellows at the University of Michigan maintain their own continuity-of-care clinics and rotate in the Ann Arbor Veterans Affairs (VA) Healthcare System. For these clinics, we sought to preserve patient staffing with expert attending physicians and continue the clinical training experience in a remote setting.
We have adapted the online conferencing platform, Zoom, to integrate learners into a virtual teaching clinic environment. By using the Zoom “breakout room” feature, fellows are able to match staffing attending physicians to different patient cases, according to attending physicians’ areas of specialty. Similar to the traditional teaching clinic environment, our remote staffing strategy has ensured that fellows continue to provide excellent patient care and fulfill educational aims across our University and VA facilities.
Outpatient clinics in other University of Michigan departments and other academic centers have inquired about or have begun utilizing our method. Even beyond COVID-19, our paradigm potentially provides a convenient virtual staffing platform to serve patient populations with geographic or transportation challenges. Following implementation, stakeholders can regularly evaluate the approach to continually improve both patient care and medical education.
Central pontine myelinolysis (CPM) is a non-inflammatory demyelinating lesion of the pons. CPM and extrapontine demyelination (EPM) are together termed osmotic demyelination syndrome (ODS), a known and serious complication of acute correction of hyponatremia. Conversely, hyperglycemic hyperosmolarity syndrome (HHS) develops in patients with type 2 diabetes who still have some insulin secretory ability due to infection, non-compliance with treatment, drugs, and coexisting diseases, and is often accompanied by ketosis. HHS represents a life-threatening endocrine emergency (mortality rate, 10–50%) associated with marked hyperglycemia and severe dehydration. HHS may develop ODS, and some cases have been associated with hypernatremia.
The patient was an 87-year-old woman with hyperglycemia, dehydration, malnutrition, and potential thrombus formation during long-term bed rest. HHS was suspected to have developed due to progression of hyperglycemia and dehydration caused by pneumonia. Furthermore, ketoacidosis developed from ketosis and prerenal renal failure associated with circulating hypovolemia shock, which was also associated with disseminated intravascular coagulation. Treatment was started with continuous intravenous injection of fast-acting insulin and low-sodium replacement fluid. In addition, ceftriaxone sodium hydrate, heparin sodium, thrombomodulin α, human serum albumin, and dopamine hydrochloride were administered. Blood glucose, serum sodium, serum osmolality, and general condition (including vital, infection/inflammatory findings, and disseminated intravascular coagulation) improved promptly, but improvements in disturbance of consciousness were poor. Diffusion-weighted imaging of the brain 72 h after starting treatment showed no obvious abnormalities, but high-intensity signals in the midline of the pons became apparent 30 days later, leading to definitive diagnosis of CPM.
Fluctuation of osmotic pressure by treatment from hyperosmolarity due to hyperglycemia and hypernatremia in the presence of risk factors such as malnutrition, severe illness, and metabolic disorders may be a cause of CPM onset. When treating HHS with risk factors, the possibility of progression to ODS needs to be kept in mind.