Results 71 to 80 of about 149,310 (234)
Neuroprotective Effect of Oral Administration of Creatine against 6-Hydroxydopamine Toxicity in Experimental Model of Parkinson's Disease [PDF]
Journal of Kerman University of Medical Sciences, 2015 Background & Aims: With regard to the neuroprotective effect of creatine in some neurological disorders like cerebral ischemia, this study was conducted to evaluate the effect of creatine in an experimental model of Parkinson’s disease (PD).
Reza Sedaghat +2 more
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Molecules, 2019 The growing demand for whey protein supplements has made them the target of adulteration with cheap substances. Therefore, Raman spectroscopy in tandem with chemometrics was proposed to simultaneously detect and quantify three common adulterants ...
Xianzhi Jiao +5 more
doaj +1 more source
Annals of Gastroenterological Surgery, EarlyView.This retrospective study identified low preoperative psoas muscle volume, measured by computed tomography, as an independent predictor of postoperative complications in patients undergoing emergency surgery for strangulated small bowel obstruction. Low psoas muscle volume, particularly in older adults, was associated with cardiopulmonary and systemic ...
Takuya Shiraishi +9 more
wiley +1 more source
Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT To describe clinical and laboratory characteristics, emphasizing the evolution of patients with hepatic glycogen storage diseases (GSDs) followed in Brazilian reference centers. Multicenter, retrospective study involving 13 centers, using RedCap platform. 132 patients were included: 63 (47.8%) GSD type I (56 Ia, 7 Ib), 13 (9.8%) with type III (
Mariana Pena Costa +23 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The key diagnostic criterion for hypertrophic cardiomyopathy is the presence of otherwise unexplained hypertrophy. Current definitions of HCM rely on specific thresholds to establish a diagnosis, while guideline directed risk stratification algorithms take its magnitude into consideration.
Thomas D. Gossios +9 more
wiley +1 more source
m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr +5 more
wiley +1 more source
Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier +2 more
wiley +1 more source
Novel MYL1 Intron Variant With Expanded Phenotype
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington +7 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt +9 more
wiley +1 more source
Arginine metabolism in uricotelic species = Metabolismo da arginina em espécies uricotélicas
Acta Scientiarum: Animal Sciences, 2010 Due to the lack of a complete urea cycle, uricotelic species, such as broilers, are not able to synthesize de novo arginine (Arg), thus depending exclusively on dietary Arg.
Jovanir Inês Müller Fernandes +1 more
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