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Mutations in GLE1 cause two recessive subtypes of Arthrogryposis Multiplex Congenita (AMC), a condition characterized by joint contractures at birth, and all previously reported patients died in the perinatal period. GLE1 related AMC has been almost exclusively reported in the Finnish population and is caused by a relatively common pathogenic splicing mutation in that population. Here, we report two non-Finnish brothers with novel compound heterozygous splicing mutations in GLE1, one of whom has survived to 12 years of age. We also demonstrate low levels of residual wild type transcript in fibroblasts from the surviving brother, suggesting that this residual wild-type transcript may contribute to the relatively longer-term survival in this family. We provide a detailed clinical report on the surviving patient, providing the first insight into the natural history of this rare neuromuscular disease. We also suggest that Lethal Congenital Contracture Syndrome 1 (LCCS1) and Lethal Arthrogryposis with Anterior Horn Disease (LAAHD), the two AMC subtypes related to GLE1, do not have sufficient clinical or molecular differentiation to be considered allelic disorders. Rather, GLE1 mutations cause a variable spectrum of AMC severity including a non-lethal variant described herein.
Gestational diabetes mellitus (GDM) is a metabolic disorder that occurs during pregnancy. HHEX and PROX1 are genetic loci associated with diabetes mellitus type 2. HHEX and PROX1 play significant roles in carbohydrate intolerance and diabetes because these transcription factors may be involved in the regulation of insulin secretion and in glucose and lipid metabolism. The aim of this study was to examine the association between HHEX (rs5015480) and PROX1 (rs340874) gene polymorphisms and GDM. This study included 204 pregnant women with GDM and 207 pregnant women with the normal glucose tolerance (NGT). The diagnosis of GDM was based on a 75-g oral glucose tolerance test at 24–28 weeks' gestation. There was a statistically significant prevalence of the HHEX rs5015480 CC genotype and C allele among women with GDM (C vs T allele, p = 0.021, odds ratio OR=1.40, 95% CI: 1.05–1.87). Statistically significant higher increase of body mass and BMI during pregnancy was found in women with the HHEX rs5015480 CC genotype. The results of our study suggest an association between the HHEX gene rs5015480 polymorphism and risk of GDM. The HHEX gene rs5015480 C allele may be a risk allele of GDM that is associated with increased BMI during pregnancy.
The Fairfield Fire Department is now hiring for Firefighter/Paramedic (Limited Term Grant Funded Position). The closing date is Wednesday, October 5, 2016 at 5:00 p.m. Pacific Time. NOTE: Minimum Qualifications: One (1) year recent full-time equivalent experience as a paramedic is required. One (1) year experience as a Fairfield reserve firefighter may be substituted for the oneyear paramedic experience ...
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The new MiniMed 670G consists of a drug pump, a sensor that measures blood sugar and a tube that delivers the insulin.
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Pancreas
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Liver International
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Journal of Computer Assisted Tomography
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Anticancer Research
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Journal of Pediatric Surgery
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