Results 11 to 20 of about 1,153 (98)

Infarction or Metabolic Breakdown? Longitudinally Extensive Diffusion-Restricted Lesions from the Medulla Oblongata to the Lumbar Spinal Cord [PDF]

Diagnostics
A 78-year-old woman with a history of rheumatoid arthritis (treated with methotrexate) developed disturbed consciousness, emesis, and intestinal perforation. Initial labs revealed hyperammonemia (189 μg/dL) and hypertonic dehydration.
Yuka Nakaya, Koji Hayashi, Mamiko Sato, Yohei Midori, Toyoaki Miura, Hiromi Hayashi, Kouji Hayashi, Yasutaka Kobayashi   +7 more
doaj   +2 more sources

Variant analysis and PGT-M of OTC gene in a Chinese family with ornithine carbamoyltransferase deficiency [PDF]

BMC Pregnancy and Childbirth
Background Ornithine carbamoyltransferase deficiency (OTCD) is a kind of X-linked metabolic disease caused by a deficiency in ornithine transcarbamylase leading to urea cycle disorders.
Yao Zhou, Xinxing Jiang, Yongfang Zhang, Yu Zhang, Fei Sun, Yanlin Ma   +5 more
doaj   +2 more sources

Clinical characteristics and molecular genetic analysis of ten cases of ornithine carbamoyltransferase deficiency in southeastern China [PDF]

Italian Journal of Pediatrics
Background This study aimed to investigate the clinical and molecular genetic characteristics of ten children with ornithine carbamoyltransferase deficiency (OTCD) in southeastern China, as well as the correlation between the genotype and phenotype of ...
Gaopin Yuan, Zhiyong Liu, Zhixu Chen, Xiaohong Zhang, Weifeng Zhang, Dongmei Chen   +5 more
doaj   +2 more sources

Considerations on urea cycle disorders: a child with ornithine transcarbamylase deficiency. [PDF]

Pediatric Anesthesia and Critical Care Journal (PACCJ), 2016
Ornithine transcarbamylase deficiency is the most common inside the group of the urea cycle disorders. Anesthesic management focus on reduce the patient ́s stress along all the surgical process.
M. Bellido, M. Gonzalez Perez, A. Martinez Ruiz, I. Barcelo   +3 more
doaj   +1 more source

Distribution and ecology of the generalist lactic acid bacterium Carnobacterium maltaromaticum in different freshwater habitats: Metabolic and antagonistic abilities

Environmental Microbiology, Volume 25, Issue 12, Page 3556-3576, December 2023., 2023
The lactic acid bacterium C. maltaromaticum was widely distributed in low concentrations in Danish freshwater environments except for locations with pH < 5. Isolates displayed a versatile metabolism and a relatively high frequency of mostly low‐intensity antagonism within the species, but unrelated to phylogeny or location. Although C.
Taya Tang, Laura Daniela Martinenghi, Yaovi Mahuton Gildas Hounmanou, Jørgen J. Leisner   +3 more
wiley   +1 more source

Clinical enzymology of the dog and cat

Australian Veterinary Journal, Volume 101, Issue 12, Page 465-478, December 2023., 2023
Clinical enzymology studies the enzyme activity in serum or other body fluids for the diagnosis, prognosis or monitoring of a variety of diseases. Clinical enzymology has greatly benefited from advances in technology and is now an integral part of laboratory analysis.
IL Oikonomidis, E Milne
wiley   +1 more source

Investigating the role of genetic variation in vgll3 and six6 in the domestication of gilthead seabream (Sparus aurata Linnaeus) and European seabass (Dicentrarchus labrax Linnaeus)

Ecology and Evolution, Volume 13, Issue 11, November 2023., 2023
The research investigates the impact of vgll3 and six6 genes, known to influence age‐at‐maturity in Atlantic salmon, in gilthead seabream and European seabass, both undergoing selective breeding for growth‐related traits in the Mediterranean. Two distinct genotyping approaches, gene‐level and chromosome‐level, were employed, revealing significant ...
Aristotelis Moulistanos, Theopisti Nikolaou, Smaragda Sismanoglou, Konstantinos Gkagkavouzis, Nikoleta Karaiskou, Efthimia Antonopoulou, Alexandros Triantafyllidis, Spiros Papakostas   +7 more
wiley   +1 more source

Sophie Claiborne's Upset Stomach - an Ornithine Transcarbamoylase Deficiency Problem-Based Learning Case

MedEdPORTAL, 2007
This resource is a problem-based learning (PBL) case featuring a female patient who has problems with food containing protein. As the case progresses it becomes evident that there is a problem handling any quantity of protein and that this problem may be
Marshall Anderson, Mary Kirkish
doaj   +1 more source

Chemo‐proteomics in antimalarial target identification and engagement

Medicinal Research Reviews, Volume 43, Issue 6, Page 2303-2351, November 2023., 2023
Abstract Humans have lived in tenuous battle with malaria over millennia. Today, while much of the world is free of the disease, areas of South America, Asia, and Africa still wage this war with substantial impacts on their social and economic development.
Brodie L. Bailey, William Nguyen, Alan F. Cowman, Brad E. Sleebs   +3 more
wiley   +1 more source

Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centre

JIMD Reports, Volume 64, Issue 5, Page 317-326, September 2023., 2023
Abstract In urea cycle disorders (UCDs) ammonia scavenger drugs, usually sodium‐based, have been the mainstay of treatment. Increasingly, glycerol phenylbutyrate (GPB, Ravicti®) is being used but scant real‐world data exist regarding clinical outcomes.
Mildrid Yeo, Preeya Rehsi, Megan Dorman, Stephanie Grunewald, Julien Baruteau, Anupam Chakrapani, Emma Footitt, Helen Prunty, Melanie McSweeney   +8 more
wiley   +1 more source