Jagiellonian University

About: Jagiellonian University is a education organization based out in Krakow, Poland. It is known for research contribution in the topics: Population & Catalysis. The organization has 17438 authors who have published 44092 publications receiving 862633 citations. The organization is also known as: Academia Cracoviensis & Akademia Krakowska.

Insulin Mutation Screening in 1,044 Patients With Diabetes: Mutations in the INS Gene Are a Common Cause of Neonatal Diabetes but a Rare Cause of Diabetes Diagnosed in Childhood or Adulthood

Abstract: Objective: Insulin gene ( INS ) mutations have recently been described as a cause of permanent neonatal diabetes. We aimed to determine the prevalence, genetics and clinical phenotype of INS mutations in large cohorts of patients with neonatal diabetes and permanent diabetes diagnosed in infancy, childhood or adulthood. Research Design and Methods: The INS gene was sequenced in 285 patients with diabetes diagnosed before 2 years, 296 probands with MODY and 463 patients with young onset T2D (non-obese, diagnosed Results: We identified heterozygous INS mutations in 33/141 probands diagnosed INS mutation carriers were all insulin treated from diagnosis and were diagnosed later than K ATP mutation carriers (11 vs 8 weeks, P KCNJ11 , ABCC8 and INS gene mutations was 31%% 10% and 12%, respectively. A heterozygous R6C mutation co-segregated with diabetes in a MODY family and is probably pathogenic, but the L68M substitution identified in a patient with young onset T2D may be a rare non-functional variant. Conclusions: We conclude that INS mutations are the second most common cause of permanent neonatal diabetes and a rare cause of MODY. Insulin gene mutation screening is recommended for all diabetic patients diagnosed before one year.

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.

Abstract: We conducted a genome-wide association study among 2,323 individuals with sporadic amyotrophic lateral sclerosis (ALS) and 9,013 control subjects and evaluated all SNPs with P < 1.0 x 10(-4) in a second, independent cohort of 2,532 affected individuals and 5,940 controls. Analysis of the genome-wide data revealed genome-wide significance for one SNP, rs12608932, with P = 1.30 x 10(-9). This SNP showed robust replication in the second cohort (P = 1.86 x 10(-6)), and a combined analysis over the two stages yielded P = 2.53 x 10(-14). The rs12608932 SNP is located at 19p13.3 and maps to a haplotype block within the boundaries of UNC13A, which regulates the release of neurotransmitters such as glutamate at neuromuscular synapses. Follow-up of additional SNPs showed genome-wide significance for two further SNPs (rs2814707, with P = 7.45 x 10(-9), and rs3849942, with P = 1.01 x 10(-8)) in the combined analysis of both stages. These SNPs are located at chromosome 9p21.2, in a linkage region for familial ALS with frontotemporal dementia found previously in several large pedigrees.

Characteristics of thermalization of boost-invariant plasma from holography.

Abstract: We report on the approach toward the hydrodynamic regime of boost-invariant $\mathcal{N}=4$ super Yang-Mills plasma at strong coupling starting from various far-from-equilibrium states at $\ensuremath{\tau}=0$. The results are obtained through a numerical solution of Einstein's equations for the dual geometries, as described in detail in the companion article [M. P. Heller, R. A. Janik, and P. Witaszczyk, arXiv:1203.0755]. Despite the very rich far-from-equilibrium evolution, we find surprising regularities in the form of clear correlations between initial entropy and total produced entropy, as well as between initial entropy and the temperature at thermalization, understood as the transition to a hydrodynamic description. For 29 different initial conditions that we consider, hydrodynamics turns out to be definitely applicable for proper times larger than 0.7 in units of inverse temperature at thermalization. We observe a sizable anisotropy in the energy-momentum tensor at thermalization, which is nevertheless entirely due to hydrodynamic effects. This suggests that effective thermalization in heavy-ion collisions may occur significantly earlier than true thermalization.