نتایج جستجو برای: tndm
تعداد نتایج: 37 فیلتر نتایج به سال:
Studies of monogenic disorders of -cell function have yielded important information on -cell physiology and have improved the diagnosis and treatment of patients with these rare diseases. These disorders include defects associated with increased insulin secretion, causing hypoglycemia, and decreased insulin secretion, resulting in diabetes. The most common form of monogenic diabetes is so-calle...
AIMS The aim of this study was to elucidate the entities and the frequency of neonatal diabetes mellitus (NDM) in a large representative database for paediatric diabetes patients in Germany and Austria. METHODS Based on the continuous diabetes data acquisition system for prospective surveillance (DPV), which includes 51,587 patients with onset of diabetes before the age of 18 years from 299 c...
OBJECTIVE Transient neonatal diabetes mellitus 1 (TNDM1) is the most common cause of diabetes presenting at birth. Approximately 5% of the cases are due to recessive ZFP57 mutations, causing hypomethylation at the TNDM locus and other imprinted loci (HIL). This has consequences for patient care because it has impact on the phenotype and recurrence risk for families. We have determined the genot...
Results The age at diagnosis was between 0.5 and 5 month, the median was 3 month. 7 cases (58.3%) were SGA. Infection occurred in 7 cases, 4 cases with convulsion and 8 cases with ketoacidosis. The mean HbA1c at diagnosis was 10.0% (7.4%~13.7%). Insulin treatment was started in all 12 patients, the initial dose was 1.0~1.2IU/kg/d, 6 cases were treated with glyburide after the acute phase, only ...
There are several monogenic disorders of pancreatic β-cell function, characterized by various degrees of chronic hyperglycemia. They are usually diagnosed early in life, in neonates or during infancy, in childhood and even in young adulthood1-3. The identification of causal mutations in a dozen of different genes has already proven to have a great clinical impact opening new avenues in genomic ...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید