Results 51 to 60 of about 444,337 (305)
Menores y daño cerebral. Atención psicosocial a menores con daño cerebral y sus familias [PDF]
Este documento es fruto del trabajo de dos encuentros temáticos realizados por Fedace a lo largo de 2020 y de la colaboración de profesionales altamente especializados en la atención al Daño Cerebral Infantil, así como de la inestimable colaboración de ...
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Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Clinical Validation of Plasma p‐217tau in Neurological Diseases
ABSTRACT Objective Plasma p‐217tau is a minimally invasive but specific biomarker for diagnosing Alzheimer's disease (AD). However, its disease specificity remains to be clinically evaluated. We validated the reliability of the p‐217tau biomarker in 12 other neurological diseases.
Takeshi Kawarabayashi +13 more
wiley +1 more source
It is difficult to predict the risk of the development of learning disabilities among extremely low birth weight neonates (birth weight > 501 and > 1000 g).
S. Domizio +6 more
doaj +1 more source
Artificial intelligence-based determination of periventricular edema in hydrocephalic brain CT scan
Hydrocephalus is excessive accumulation of cerebrospinal fluid within the cerebral ventricles. It has a complex pathogenesis with various causes. Periventricular edema refers to the abnormal accumulation of fluid in the brain tissue surrounding the ...
Mahtab Gholami +5 more
doaj +1 more source
Intracranial migration of intraocular silicone oil mimicking metastatic disease
Silicone oil (SO) is a commonly used agent of intraocular endotamponade for treating complicated retinal detachment. We report a case of SO migration into the cerebral ventricles which was initially misdiagnosed as metastatic disease.
Nurahmed Mohammed, MD, MS +1 more
doaj +1 more source
Informe Monográfico sobre recursos de Atención al Daño Cerebral en España [PDF]
Con este informe monográfico se pretende ofrecer un mapa de recursos en atención al daño cerebral en España. Con este propósito, además de la revisión de fuentes secundarias, se ha consultado a las entidades que conforman la Federación Española de Daño ...
Federación Española de Daño Cerebral
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SPG4 and Dementia: Expanding the Clinical Spectrum
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source
Comparison of a canine brain with normal lateral cerebral ventricles (A) and enlarged ventricles (B).
Malgorzata Kolecka (734198) +6 more
core +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source

