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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 PDFMultisystem clinicopathologic and genetic analysis of MELAS.
Orphanet J Rare Dis
December 2024
Department of Pathology, Nanjing Drum Tower Hospital, Affiliated Hospital of Medical School, Nanjing University, Zhongshan Road 321#, Nanjing, 210008, Jiangsu, China.
Background And Objectives: Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a maternally inherited mitochondrial disorder that mostly affects the central nervous system and skeletal muscle. This study provides a comprehensive summary of the clinical symptoms, multisystemic pathogenesis, and genetic characteristics of MELAS syndrome. The aim was to improve comprehension of clinical practice and gain a deeper understanding of the latest pathophysiological theories.
View Article and Find Full Text PDFThe Use of Single Pass Albumin Dialysis and Hemoadsorption in Management of Life-Threatening Amlodipine Overdose.
Semin Dial
December 2024
Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong.
We report the successful application of single pass albumin dialysis (SPAD) and hemoadsorption (HA) in two teenagers with amlodipine poisoning. A 16-year-old girl with amlodipine overdose developed refractory shock and lactic acidosis despite multiple inotropes, calcium, insulin, and glucagon infusion. SPAD was initiated 18 h after the incident for 21 h.
View Article and Find Full Text PDFIn vitro and in vivo analysis of rumen fermentation after supplementary niacin in high concentrated fed cattle.
Trop Anim Health Prod
December 2024
Jiangxi Province Key Laboratory of Animal Nutrition/Engineering Research Center of Feed Development, Jiangxi Agricultural University, Nanchang, 330045, China.
Rumen acidosis is a common nutritional metabolic disease in ruminants, and the developing of feed additives to prevent this disorder has great application prospect. This study was conducted to investigate the effects of dietary niacin supplementation with different concentrate to roughage ratio on rumen fermentation evaluated by simulated rumen fermentation in vitro and in vivo. The cattle fed with basal feed (dietary concentrate-to-forage ratio was 5: 5) and high concentrate feed (dietary concentrate-to-forage ratio was 8: 2) were defined as Control stage and HC stage, respectively.
View Article and Find Full Text PDFTuberculosis Caused by Isoniazid-Resistant Strain Was Transmitted from a Woman Undergoing IVFET to Her Fetus by Intrauterine: A Case Report.
Infect Drug Resist
December 2024
Pulmonary Diseases Department, The Third People's Hospital of Shenzhen, The Second Affiliated Hospital of Southern University of Science and Technology, Shenzhen, People's Republic of China.
Background: Tuberculosis (TB) among women and infants during the perinatal period is not rare, particularly in countries with a high TB burden. And the risk would increase significantly following in vitro fertilization-embryo transfer (IVFET). Worse still, TB in this stage is apt to develop into severe forms in women and neonates, such as disseminated TB or tuberculous meningitis (TBM).
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