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Case Report: A novel hemizygous missense variant in a Vietnamese boy with pyruvate dehydrogenase E1-alpha deficiency.
Front Pediatr
December 2024
Institute of Genome Research, Vietnam Academy of Science and Technology (VAST), Hanoi, Vietnam.
A pyruvate dehydrogenase complex deficiency causes a reduction in adenosine triphosphate production and energy insufficiency, leading to neurological disorders. An abnormal E1-alpha protein originating from the gene with pathogenic variants is unable to communicate with E1-beta for the formation of the E1 enzyme, decreasing pyruvate dehydrogenase complex activity. In this study, we report a Vietnamese boy with lethargy, severe metabolic acidosis, increased serum lactate, hyperalaninemia, lactic acidosis, and globus pallidus lesions.
View Article and Find Full Text PDFEcytonucleospora hepatopenaei (EHP) disease prevalence and mortality in Litopenaeus vannamei: a comparative study from Eastern India shrimp farms.
BMC Microbiol
December 2024
Aquatic Environmental Biotechnology (AEB) Division, ICAR-Central Inland Fisheries Research Institute (CIFRI), Barrackpore, 700120, India.
Ecytonucleospora hepatopenaei (EHP), a microsporidian parasite first named and characterized from the Penaeus monodon (black or giant tiger shrimp), causes growth retardation and poses a significant threat to shrimp farming. We observed shrimp farms associated with disease conditions during our fish disease surveillance and health management program in West Bengal, India. Shrimp exhibited growth retardation and increased size variability, particularly in advanced stages, exhibiting soft shells, lethargy, reduced feeding and empty midguts.
View Article and Find Full Text PDFUse of a double pigtail ureteral stent for surgical management of obstructive pancreatolithiasis in a feline patient.
JFMS Open Rep
December 2024
Veterinary Surgical Centers, Vienna, VA, USA.
Case Summary: A 7-year-old castrated male domestic shorthair cat was presented for surgical intervention for obstructive pancreatolithiasis. The patient had a history of chronic weight loss, vomiting and lethargy. Elevation of feline pancreas-specific lipase and a marked decrease in cobalamin were documented on blood biochemistry.
View Article and Find Full Text PDFMetformin efficacy and safety as an adjunctive treatment for irritability in children with autism spectrum disorder: A randomized, double-blind, placebo-controlled trial.
J Psychopharmacol
December 2024
Psychiatric Research Center, Roozbeh Hospital, Tehran University of Medical Sciences, Tehran, Iran.
Background: Antidiabetic medications have shown efficacy in alleviating autism symptoms. However, there is a lack of clinical research on the impact of metformin on irritability associated with autism. This study aimed to assess the efficacy and safety of metformin as an adjuvant therapy with risperidone for managing irritability in children diagnosed with Autism Spectrum Disorder (ASD).
View Article and Find Full Text PDFImpact of porcine respiratory disease complex on carcass weight and meatiness: quantitative insights from a mixed-model analysis.
BMC Vet Res
December 2024
Department of Large Animal Diseases and Clinic, Institute of Veterinary Medicine, Warsaw University of Life Sciences, Warsaw, 02-787, Poland.
Background: Porcine respiratory disease complex (PRDC) significantly impacts the swine industry worldwide, leading to economic losses due to poor growth performance, reduced feed efficiency, higher medication costs, and adversely affecting pig welfare by causing clinical symptoms such as fever, cough, loss of appetite, lethargy, and dyspnea. Cranio-ventral pulmonary consolidation (CVPC) and pleuritis are the most frequent macroscopic lung lesions observed in PRDC and are indicators of decreased animal welfare. This study aimed to quantify the effects of CVPC and pleurisy on carcass weight, meatiness, and average daily carcass weight gain (ADCWG) in fattening pigs, thereby assessing their impact on both production and welfare.
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