Publications by authors named "S A Ivarsson"
Clinical genetic laboratories often require a comprehensive analysis of chromosomal rearrangements/structural variants (SVs), from large events like translocations and inversions to supernumerary ring/marker chromosomes and small deletions or duplications. Understanding the complexity of these events and their clinical consequences requires pinpointing breakpoint junctions and resolving the derivative chromosome structure. This task often surpasses the capabilities of short-read sequencing technologies.
View Article and Find Full Text PDFBackground: Genetic variants in are associated with autosomal dominant tubulointerstitial kidney disease. SEC61A1 is a translocon in the endoplasmic reticulum membrane and variants affect biosynthesis of renin and uromodulin.
Methods: A patient is described that presented at 1 year of age with failure-to-thrive, kidney failure (glomerular filtration rate, GFR, 18 ml/min/1.
Article Synopsis
- A study aimed to determine if a moderate carbohydrate diet could improve glucose control in adults with type 1 diabetes (T1D) compared to a traditional high-carb diet.
- The study involved 54 adults over 12 weeks, using continuous glucose monitoring to measure changes in glucose levels during each diet phase.
- Results showed that the moderate carbohydrate diet led to a significant reduction in mean glucose levels and increased time spent in the target glucose range, with no serious adverse events reported.
Aim: Previous studies have reported an association between month of birth and incidence of type 1 diabetes. Using population-based data, including almost all newly diagnosed children with type 1 diabetes in Sweden, we tested whether month of birth influences the risk of type 1 diabetes.
Methods: For 8761 children diagnosed with type 1 diabetes between May 2005 and December 2016 in the Better Diabetes Diagnosis study, month of birth, sex and age were compared.