Results 21 to 30 of about 90 (89)

Mitochondrial Fatty Acid Oxidation Disorders Associated with Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency

open access: yesCells, 2018
Mitochondrial fatty acid β-oxidation (FAO) is the primary pathway for fatty acid metabolism in humans, performing a key role in liver, heart and skeletal muscle energy homeostasis.
Alice J. Sharpe, Matthew McKenzie
doaj   +1 more source

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain‐expressed sodium channelopathies

open access: yesEpilepsia, EarlyView.
Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli   +43 more
wiley   +1 more source

Adult Reye-like syndrome associated with serologic evidence of acute parvovirus B19 infection

open access: yesBrazilian Journal of Infectious Diseases, 2011
Reye's syndrome is an infrequently diagnosed medical condition affecting mainly children. The etiology, epidemiology and natural history of Reye's syndrome have been cloudily written in footnotes of medical books and exotic papers since the initial ...
Paulo Sérgio Gonçalves da Costa, PhD   +4 more
doaj   +1 more source

Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype

open access: yesItalian Journal of Pediatrics, 2012
Medium chain acyl CoA dehydrogenase deficiency (MCAD) is the most common inborn error of fatty acid oxidation. This condition may lead to cellular energy shortage and cause severe clinical events such as hypoketotic hypoglycemia, Reye syndrome and sudden
Lovera Cristina   +8 more
doaj   +1 more source

Cardiovascular Plasticity and Adaptation of High‐Altitude Birds and Mammals

open access: yesIntegrative Zoology, EarlyView.
This schematic depicts the cardiovascular adaptations of mammals and birds to high‐altitude hypoxia. It highlights key phenotypic changes in oxygen transport and cardiac responses, driven by molecular mechanisms including transcriptional regulation and genetic modifications.
Huishang She, Yanhua Qu
wiley   +1 more source

Fulminant Hepatic Failure Attributed to Ackee Fruit Ingestion in a Patient with Sickle Cell Trait

open access: yesCase Reports in Transplantation, 2012
We report a case of fulminant liver failure resulting in emergent liver transplantation following 3 weeks of nausea, vomiting, and malaise from Jamaican Vomiting Sickness. Jamaican Vomiting Sickness is caused by ingestion of the unripe arils of the Ackee
Dianne E. Grunes   +6 more
doaj   +1 more source

Acute Kidney Failure as a Single Complication of Varicella Virus Infection in an Adult Patient

open access: yesCase Reports in Nephrology and Dialysis, 2018
Background: Varicella zoster virus (VZV) is distributed worldwide and is highly contagious. In adults and immunosuppressed patients of any age, the clinical course is much more severe. The most severe complications are pneumonia (the main cause of lethal
Vedran Premužić   +4 more
doaj   +1 more source

Infection control in the brain and the eye

open access: yesActa Ophthalmologica, EarlyView.
Abstract The Central Nervous System (CNS), comprising the brain and the eye, is considered to have a ‘privileged’ mechanism for dealing with immunological challenge (immune privilege, IP). CNS IP has been revealed through experiments using foreign protein antigens and cell and tissue alloantigens (grafts), but evidence for a role for IP in modulating ...
John V. Forrester   +2 more
wiley   +1 more source

Influenza a infection unmasking an underlying mitral valve stenosis in a 19-year-old boy

open access: yesJournal of Family Medicine and Primary Care, 2013
Infection with Influenza virus is uncommon in the present times, though a number of cases were reported during pandemics in 1918 in various regions of America.
Shafali Nandwani   +2 more
doaj   +1 more source

Latent Profile Analysis of Challenging Behaviour in Individuals With Intellectual Disabilities: Examining Associated Factors and Life Satisfaction

open access: yesBritish Journal of Learning Disabilities, EarlyView.
ABSTRACT Background Challenging behaviours (CBs) are known to adversely affect life satisfaction among individuals with intellectual disabilities. Little is known about the impact of different profiles of CBs amongst individuals with intellectual disabilities in South Korea.
Yesang Cho
wiley   +1 more source

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