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Hovmand Crawford posted an update 6 months, 2 weeks ago
30 log ng/mg creatinine in patients with functional severe glaucoma (visual field mean deviation ≤ -6 dB) compared with mild glaucoma (mean deviation > -6 dB; P = 0.040) and lower UME by 0.05 log ng/mg creatinine with each 10 μm thinning of the circumpapillary retinal nerve fiber layer thickness as the index of structural severity of glaucoma (P = 0.011). In conclusion, significant association between glaucoma and lower urinary 6-sulfatoxymelatonin was found. In addition, patients with functional and structural severe glaucoma were significantly associated with lower urinary 6-sulfatoxymelatonin levels. Our results indicate the possibility of a circadian disruption in patients with glaucoma. This article is protected by copyright. All rights reserved.AIM To study the clinical characteristics and incidence of microvascular complications among childhood and adolescent onset type 1(T1DM) and type 2 diabetes (T2DM) seen at a tertiary care diabetes centre in India. METHODS From our electronic medical records, we retrieved clinical and biochemical details of 4555 individuals with childhood and adolescent onset diabetes (diagnosed below the age of 20 years) seen between 1992 and 2017. T1DM was diagnosed if there was history of ketoacidosis or fasting C-peptide 1.0pmol/ml, or response to oral hypoglycemic agents for more than two years. We calculated the incidence rates of retinopathy (presence of at least one definite microaneurysm by retinal photography), nephropathy (urinary albumin excretion ≥30μg/mg of creatinine) and neuropathy (vibration perception threshold ≥20V) per 1000 person-years of follow up. RESULTS Among the 4555 individuals with childhood and adolescent-onset diabetes, 71.4% had T1DM, 19.5% T2DM and 9.1% other forms of diabetes. Age at first visit and duration of diabetes were significantly higher in T2DM when compared to T1DM. The age adjusted incidence of retinopathy was 52.9/1000 person years (Confidence Intervals (CI) 42.9-62.8) in T1DM and 49.8/1000 person years (CI 30.8-68.8) in T2DM; nephropathy, 6.2 (CI 3.3-9.0) and 13.8 (CI 5.6-22.0); and neuropathy, 8.8(CI 3.6-14.0) and 24.0 (CI 9.8-38.2) in T1DM and T2DM respectively. CONCLUSION The incidence of microvascular complications is high among childhood and adolescent-onset T1DM and T2DM and this calls for more aggressive control of diabetes. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.Pathogenic variants in the core spliceosome U5 small nuclear ribonucleoprotein gene EFTUD2/SNU114 cause the craniofacial disorder mandibulofacial dysostosis Guion-Almeida type (MFDGA). MFDGA-associated variants in EFTUD2 comprise large deletions encompassing EFTUD2, intragenic deletions and single nucleotide truncating or missense variants. These variants are predicted to result in haploinsufficiency by loss-of-function of the variant allele. While the contribution of deletions within EFTUD2 to allele loss-of-function are self-evident, the mechanisms by which missense variants are disease-causing have not been characterized functionally. Combining bioinformatics software prediction, yeast functional growth assays, and a minigene (MG) splicing assay, we have characterized how MFDGA missense variants result in EFTUD2 loss-of-function. Only four of 19 assessed missense variants cause EFTUD2 loss-of-function through altered protein function when modeled in yeast. Of the remaining 15 missense variants, five altered the normal splicing pattern of EFTUD2 pre-messenger RNA predominantly through exon skipping or cryptic splice site activation, leading to the introduction of a premature termination codon. Comparison of bioinformatic predictors for each missense variant revealed a disparity amongst different software packages and, in many cases, an inability to correctly predict changes in splicing subsequently determined by MG interrogation. This study highlights the need for laboratory-based validation of bioinformatic predictions for EFTUD2 missense variants. © 2020 The Authors. Human Mutation published by Wiley Periodicals, Inc.Mutations in histidyl-tRNA synthetase (HARS1), an enzyme that charges transfer RNA with the amino acid histidine in the cytoplasm, have only been associated to date with autosomal recessive Usher syndrome type III and autosomal dominant Charcot-Marie-Tooth disease type 2W. Using massive parallel sequencing, we identified bi-allelic HARS1 variants in a child (c.616G>T, p.Asp206Tyr and c.730delG, p.Val244Cysfs*6) and in two sisters (c.1393A>C, p.Ile465Leu and c.910_912dupTTG, p.Leu305dup), all characterized by a multisystem ataxic syndrome. All mutations are rare, segregate with the disease, and are predicted to have a significant effect on protein function. Functional studies helped to substantiate their disease-related roles. selleck kinase inhibitor Indeed, yeast complementation assays showing that one out of two mutations in each patient is loss-of-function, and the reduction of messenger RNA and protein levels and enzymatic activity in patient’s skin-derived fibroblasts, together support the pathogenicity of the identified HARS1 variants in the patient phenotypes. Thus, our efforts expand the allelic and clinical spectrum of HARS1-related disease. © 2020 Wiley Periodicals, Inc.Human adults are better at recognizing upright bodies than inverted bodies. This inversion effect is also found for objects with which they have expertise, which is called the expert effect. This study aims to investigate its evolutionary and developmental aspects by testing humans’ closest relatives, chimpanzees, and preschool children. Chimpanzees show the inversion effect to chimpanzee bodies, but it is not clear how they perceive other species’ bodies. We tested 7 chimpanzees in matching-to-sample tasks on touch screens using upright and inverted stimuli, and examined their accuracy and response time. In a previous study, they did not show the inversion effect for bipedal humans in unfamiliar postures, but here in this study they showed it to bipedal humans with familiar postures or crawling postures. This suggests the existence of the expert effect in non-human primates, and that visual or embodied experience is needed to invoke it. It is also supported by the inversion effect they exhibit for horses who share quadrupedal postures, but which they have never seen.
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