When chronic ischemia in thalassemia mimics leukodystrophy: Case report with review of literature
CHRISMED Journal of Health and Research, 2017 We present magnetic resonance imaging (MRI) brain picture of a 10-month-old child suffering from thalassemia major. The picture had changes that mimicked leukodystrophy.
Sukriti Kumar, Manish Gutch
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Vanishing white matter disease expression of truncated EIF2B5 activates induced stress response
eLife, 2020 Vanishing white matter disease (VWM) is a severe leukodystrophy of the central nervous system caused by mutations in subunits of the eukaryotic initiation factor 2B complex (eIF2B).
Matthew D Keefe +10 more
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MicroRNA and metabolomics signatures for adrenomyeloneuropathy disease severity
JIMD Reports, 2022 Adrenomyeloneuropathy (AMN), the slow progressive phenotype of adrenoleukodystrophy (ALD), has no clinical plasma biomarker for disease progression. This feasibility study aimed to determine whether metabolomics and micro‐RNA in blood plasma provide a ...
Bela Rui Turk +7 more
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A Study on the Origin of Peroxisomes: Possibility of Actinobacteria Symbiosis [PDF]
, 2008 The origin of peroxisomes as having developed from the endoplasmic reticulum (ER) was proposed on the basis of the similarity between some peroxisomal proteins and ER proteins, and the localization of some peroxisomal proteins on the ER.
Duhita Narendra +5 more
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Mitochondrial DNA Depletion Syndrome 1 (MTDPS1)—A Novel Cause of Premature Ovarian Insufficiency
Clinical Genetics, EarlyView.We describe a woman with MNGIE due to a novel homozygous TYMP nonsense variant and propose MNGIE as the cause of her premature ovarian insufficiency—a rarely reported association—highlighting the need to consider mitochondrial disease in unexplained POI, especially in atypical, consanguineous presentations. ABSTRACT Mitochondrial DNA depletion syndrome
Michael Matheou +3 more
wiley +1 more source
Free Neuropathology, 2020 Two different pathological mechanisms have been suggested to underlie adult-onset leukoencephalopathy with axonal spheroids (ALAS). Pathological studies have suggested that ALAS involves primary axonopathy with secondary demyelination.
Murad Alturkustani +3 more
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Infantile Alexander Disease: Case Report and Review of Literature [PDF]
Journal of Clinical and Diagnostic Research, 2017 Alexander Disease (AD) is an autosomal dominant leukodystrophy and occurs predominantly in infants and children. It usually results in death within ten years after onset. Among the four subtypes, infantile form comprises the most of affected individuals.
Soumyabrata Sarkar +4 more
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Unrecognized preanalytical problem with the spectrophotometric analysis of cerebrospinal fluid for xanthochromia [PDF]
, 2008 Udgivelsesdato: 2008 ...
Hansen, Annebirthe Bo +3 more
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Vascularised Brain Organoids: Engineering Strategies and Neurobiological Applications
Cell Proliferation, EarlyView.This review highlights emerging strategies to engineer vascularized brain organoids—including endothelial co‐culture, genetic induction, perfusion systems, and in vivo transplantation—and their applications in modelling neurovascular diseases, evaluating BBB drug delivery, and advancing regenerative medicine.
Yeajin Song +4 more
wiley +1 more source
Diagnostic issues and clinical spectrum of childhood degenerative brain diseases [PDF]
, 2014 To find out the spectrum of clinical presentation and typesof neurodegenerative disorders of childhoodin tertiary care child neurology centre of Pakistan. To find out the role of brain imaging in the diagnosis of degenerative brain disorders in children.
Ameer Khan, Ashfa +4 more
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