Results 31 to 40 of about 381,364 (391)

Limbic-predominant age-related TDP-43 encephalopathy (LATE): consensus working group report

open access: yesBrain : a journal of neurology, 2019
Nelson et al. describe a recently recognized brain disorder that mimics the clinical features of Alzheimer’s disease: Limbic-predominant Age-related TDP-43 Encephalopathy (LATE).
P. Nelson   +35 more
semanticscholar   +1 more source

Glycine encephalopathy

open access: yesThe Egyptian Journal of Neurology, Psychiatry and Neurosurgery, 2022
AbstractInherited neurotransmitter diseases are a subset of rare neurometabolic disorders characterized by hereditary deficiencies in neurotransmitter metabolism or transport. Non-ketotic hyperglycinaemia (NKH), called glycine encephalopathy, is an autosomal recessive glycine metabolism disorder characterized by an abnormal accumulation of glycine in ...
S. Bhumika   +3 more
openaire   +3 more sources

Updated nomenclature of delirium and acute encephalopathy: statement of ten Societies

open access: yesIntensive Care Medicine, 2020
Segregation of published research Patients with an acute illness frequently acquire an acute, global disturbance in cognition variably referred to as delirium, encephalopathy, acute confusional state, acute brain dysfunction, acute brain failure, and ...
A. Slooter   +16 more
semanticscholar   +1 more source

Comprehensive genetic screening for vascular Ehlers–Danlos syndrome through an amplification‐based next‐generation sequencing system

open access: yesAmerican Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 37-51, January 2023., 2023
Abstract Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder (HCTD) characterized by arterial dissection/aneurysm/rupture, sigmoid colon rupture, or uterine rupture. Diagnosis is confirmed by detecting heterozygous variants in COL3A1.
Tomomi Yamaguchi   +25 more
wiley   +1 more source

Hepatic encephalopathy: a neurochemical, neuroanatomical, and neuropsychological study. [PDF]

open access: yes, 2006
Hepatic encephalopathy (HE) is normally diagnosed by neuropsychological (NP) tests, which are not very specific and do not reveal the underlying pathology.
Binesh, Nader   +11 more
core   +1 more source

Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy

open access: yesAmerican Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 234-237, January 2023., 2023
Abstract Adenylosuccinase deficiency is a rare inborn error of metabolism. We present a newborn who died at 52 days of age with clinical features suggestive of severe epileptic encephalopathy and leukodystrophy of unknown cause. Post‐mortem examination showed an unusual vacuolar appearance of the brain.
Spatikha Sitaram   +11 more
wiley   +1 more source

Curcumin Alleviates Oxygen-Glucose-Deprivation/Reperfusion-Induced Oxidative Damage by Regulating miR-1287-5p/LONP2 Axis in SH-SY5Y Cells

open access: yesAnalytical Cellular Pathology, 2021
Oxidative stress-induced neuronal damage is a main cause of ischemia/reperfusion injury. Curcumin (Cur), the principal constituent extracted from dried rhizomes of Curcuma longa L. (turmeric), exhibits excellent antioxidant effects. Previous studies have
Teng Zhang   +3 more
doaj   +1 more source

Cooling for newborns with hypoxic ischaemic encephalopathy.

open access: yesCochrane Database of Systematic Reviews, 2013
BACKGROUND Newborn animal and human pilot studies suggest that mild hypothermia following peripartum hypoxia-ischaemia in newborn infants may reduce neurological sequelae, without adverse effects. OBJECTIVES To determine whether therapeutic hypothermia
S. Jacobs   +5 more
semanticscholar   +1 more source

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

open access: yesAmerican Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 445-458, February 2023., 2023
Abstract Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1.
Clémence Jacquin   +47 more
wiley   +1 more source

Autoimmune encephalopathies [PDF]

open access: yesAnnals of the New York Academy of Sciences, 2014
Over the past 10 years, the continual discovery of novel forms of encephalitis associated with antibodies to cell‐surface or synaptic proteins has changed the paradigms for diagnosing and treating disorders that were previously unknown or mischaracterized.
Josep Dalmau   +4 more
openaire   +3 more sources

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