Results 111 to 120 of about 235,104 (268)

MRI of neonatal encephalopathy

, 2003
We present the magnetic resonance imaging (MRI) findings in neonatal encephalopathy, including hypoxic-ischaemic encephalopathy, perinatal/neonatal stroke, metabolic encephalopathy from inborn errors of metabolism, congenital central nervous system ...
Chan, FL, Khong, PL, Wong, V, Lam, BCC, Tung, HKS, Ooi, GC   +5 more
core   +1 more source

Affected Persons in Laboratory Exposures to Human Pathogens and Toxins in Canada, 2016–2024: A Sector‐Specific Analysis

American Journal of Industrial Medicine, EarlyView.
ABSTRACT Background Exposures to human pathogens and toxins in licensed facilities in Canada have been monitored by a federal surveillance system since 2015, yet the affected persons (APs) in these incidents remain uncharacterized. This study comprehensively describes APs, highlighting sector‐specific patterns and trends over time.
Emily F. Tran, Christine Abalos, Antoinette N. Davis, Audrey Gauthier, Samuel Bonti‐Ankomah   +4 more
wiley   +1 more source

Inhibition of type I interferon signaling abrogates early Mycobacterium bovis infection

BMC Infectious Diseases, 2019
Background Mycobacterium bovis (M. bovis) is the principal causative agent of bovine tuberculosis; however, it may also cause serious infection in human being.
Jie Wang, Tariq Hussain, Kai Zhang, Yi Liao, Jiao Yao, Yinjuan Song, Naveed Sabir, Guangyu Cheng, Haodi Dong, Miaoxuan Li, Jiamin Ni, Mazhar Hussain Mangi, Deming Zhao, Xiangmei Zhou   +13 more
doaj   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

Astrocytes in Hepatic Encephalopathy

, 1990
Considerable progress has been made in recent years toward understanding the neurochemical events occurring in hepatic encephalopathy (HE). However, an integrated picture of all of the available facts and events regarding the pathogenesis of this ...
Norenberg, Michael D, Michael D. Norenberg   +1 more
core   +1 more source

Recurrent Neurodevelopmental Disorder Associated With a Dominant‐Negative TOP2B H63Y Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a 7 year‐old boy with severe neurodevelopmental disorder, medically‐refractory epileptic encephalopathy, hyperkinetic movement disorder, hypotonia, cerebral and cerebellar atrophy and hypomyelination who was found to have a heterozygous de novo TOP2B NM_001330700.2:c.187C>T, p.(His63Tyr) variant.
Zong Yi Ha, Leticia Dinatto, Kirsten Meagher, Colleen Guimond, Jan M. Friedman, Peter C. Stirling, Millan S. Patel   +6 more
wiley   +1 more source

Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa, Leandro Rodrigo Ribeiro, Jéssica Lorena Bariviera, Mauro Schneider Oliveira   +3 more
wiley   +1 more source

Recent advances in hepatic encephalopathy

, 2017
Hepatic encephalopathy describes the array of neurological alterations that occur during acute liver failure or chronic liver injury. While key players in the pathogenesis of hepatic encephalopathy, such as increases in brain ammonia, alterations in ...
Victoria Liere, Sharon DeMorrow, Gurkarminder Sandhu   +2 more
core   +1 more source

Hepatolenticular degeneration-induced hepatic dysfunction with extremely atypical clinical manifestations: a Case Report

Frontiers in Medicine
Hepatolenticular Degeneration (HLD) is a rare condition caused by a genetic copper metabolism disorder and a basal ganglia-dominated degenerative brain disease. Its characteristic clinical features include progressive extrapyramidal symptoms, psychiatric
Zhuang Tao, Jiafeng Zhou, Zhenzhen Jiang, Ya Hu, Shupei Jia, Meixia Wang   +5 more
doaj   +1 more source