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The usefulness of the new pubertal growth reference was explored by identifying differences in the underlying growth functions that translate into differences in pubertal height gain for children of varying body mass, height, and with different pubertal timings. Conclusions A new type of height reference allowing alignment of individual growth curves, based on the timing of the pubertal growth spurt was developed using QEPS-model functions. This represents a paradigm shift in pubertal growth research and growth monitoring during the adolescent period.Objectives Carbonic anhydrase VA (CAVA) deficiency is a rare autosomal recessive inborn error of metabolism that leads to acute metabolic crises, especially in the neonatal or infantile period. It is caused by a deficiency of the enzyme CAVA, which is encoded by the CA5A gene. Case presentation Fifteen patients with homozygous pathogenic CA5A mutations involving 10 different lesions have been reported in the literature up to date. Main clinical and biochemical features of CAVA deficiency include lethargy, hyperammonemic encephalopathy, metabolic acidosis, elevated lactate and hypoglycemia. In most patients reported so far, a single metabolic decompensation attack has been reported, and they have remained stable thereafter with no further crisis. Conclusions We report the 16th case of CAVA deficiency, who was diagnosed by whole-exome sequencing and showed a typical course of the disease with normal development at 18 months.Objectives Recently, several studies have reported the association between elevation of thyroid-stimulating hormone (TSH) levels and liver disease, especially, non-alcoholic fatty liver disease (NAFLD). We aimed to evaluate the incidence and risk factors of TSH elevation in patients with liver disease. Methods We retrospectively reviewed the data of patients aged less then 18 years who were diagnosed with liver disease between January 2015 and March 2019. Results Among the 77 patients, 17 (22.1%) had subclinical hypothyroidism and 3 (17.6%) progressed to overt hypothyroidism. A total of 26 (33.8%) patients had NAFLD, and 6 (23.1%) had subclinical hypothyroidism. The ultrasound grade of liver steatosis was not related to the elevation of TSH levels. The median age was significantly younger in patients with TSH elevation (5 vs. 9 years, p = 0.017). Albumin levels were significantly decreased (3.9 vs. 4.3 g/dL, p = 0.007), and total bilirubin levels were elevated (2.2 vs. 0.6 mg/dL, p = 0.001) in patients with subclinical hypothyroidism. Conclusions TSH elevation commonly occurs in patients with liver disease, especially those with younger age. The cause of liver disease was not a risk factor for TSH elevation.Objectives Type 1 diabetes is an autoimmune disease. Its most important immunologic markers are pancreatic beta-cell autoantibodies. This study aimed to determine diabetes mellitus antibodies frequency among children and adolescents with type 1 diabetes. Methods This descriptive study evaluated the frequency of four diabetes autoantibodies (glutamic acid decarboxylase 65 autoantibodies [GADA], islet cell autoantibodies [ICA], insulin autoantibodies [IAA], tyrosine phosphatase-like insulinoma antigen-2 antibodies [IA-2A]) and their serum level in children and adolescents diagnosed with type 1 diabetes mellitus at the diabetes department of Bou-Ali-Sina Hospital and Baghban Clinic, Sari, Iran, from March 2012 to March 2018. The relationship between the level of different antibodies and age, gender, and diabetes duration were determined. A two-sided p value less than 0.05 indicated statistical significance. Results One hundred forty-two eligible patient records were screened. The average age at diabetes diagnosis was 4.2 ± 4.4 years. find more The median duration of diabetes was 34.0 (12.7-69.7) months. 53.5% of patients were female, and 81.7% of them had at least one positive autoantibody, and ICA in 66.2%, GADA in 56.3%, IA-2A in 40.1%, and IAA in 21.8% were positive. The type of the autoantibodies and their serum level was similar between females and males but there was a higher rate of positive autoantibodies in females. The level of IA-2A and ICA were in positive and weak correlation with age at diagnosis. Conclusions More than 80% of pediatric and adolescent patients with type 1 diabetes were autoantibody-positive. ICA and GADA were the most frequently detected autoantibodies. The presence of antibodies was significantly higher in females.Objectives The inter-individual variability of warfarin dosing has been linked to genetic polymorphisms. This study was aimed at performing genotype-driven pharmacokinetic (PK) simulations to predict warfarin levels in Puerto Ricans. Methods Analysis of each individual dataset was performed by one-compartmental modeling using WinNonlin®v6.4. The k e of warfarin given a cytochrome P450 2C9 (CYP2C9) genotype ranged from 0.0189 to 0.0075 h-1. K a and V d parameters were taken from literature. Data from 128 subjects were divided into two groups (i.e., wild-types and carriers) and statistical analyses of PK parameters were performed by unpaired t-tests. Results In the carrier group (n=64), 53 subjects were single-carriers and 11 double-carriers (i.e., *2/*2, *2/*3, *2/*5, *3/*5, and *3/*8). The mean peak concentration (Cmax) was higher for wild-type (0.36±0.12 vs. 0.32±0.14 mg/L). Likewise, the average clearance (CL) parameter was faster among non-carriers (0.22±0.03 vs. 0.17±0.05 L/h; p=0.0001), with also lower area under the curve (AUC) when compared to carriers (20.43±6.97 vs. 24.78±11.26 h mg/L; p=0.025). Statistical analysis revealed a significant difference between groups with regard to AUC and CL, but not for Cmax. This can be explained by the variation of k e across different genotypes. Conclusions The results provided useful information for warfarin dosing predictions that take into consideration important individual PK and genotyping data.[This corrects the article DOI 10.2196/17561.].This article addresses the adaptive neural tracking control problem for a class of uncertain stochastic nonlinear systems with nonstrict-feedback form and prespecified tracking accuracy. Some radial basis function neural networks (RBF NNs) are used to approximate the unknown continuous functions online, and the desired controller is designed via the adaptive dynamic surface control (DSC) method and the gain suppressing inequality technique. Different from the reported works on uncertain stochastic systems, by combining some non-negative switching functions and dynamic surface method with the nonlinear filter, the design difficulty is overcome, and the control performance is analyzed by employing stochastic Barbalat's lemma. Under the constructed controller, the tracking error converges to the accuracy defined a priori in probability. The simulation results are shown to verify the availability of the presented control scheme.

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