Results 111 to 120 of about 447,656 (309)
Diagnosis of Brain Stem Death I
This third in a series of nine articles on brain death begins a discussion of the practical aspects of diagnosing brain stem death. Pallis, a neurologist, presents guidelines for the physician to use in systematically establishing a diagnosis.
Pallis, Christopher
core +1 more source
A ototoxidade dos solventes orgânicos pode atingir o sistema auditivo a nível coclear e retrococlear. OBJETIVO: Avaliar a integridade neurofisiológica do sistema auditivo até tronco cerebral por meio do PEATE. MÉTODO: Estudo prospectivo.
Lenita da Silva Quevedo +3 more
doaj +1 more source
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
Acromegalia é uma doença endócrina rara. Poucos estudos avaliaram sua associação com deficiência auditiva (DA) e os resultados são conflitantes. OBJETIVOS: Avaliar a prevalência e características da DA em um grupo de pacientes com acromegalia em ...
Marcelo Alexandre Carvalho +5 more
doaj +1 more source
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
Repair of neonatal brain injury: bringing stem cell-based therapy into clinical practice
Hypoxic-ischaemic brain injury is one of most important causes of neonatal mortality and long-term neurological morbidity in infants born at term. At present, only hypothermia in infants with perinatal hypoxic-ischaemic encephalopathy has shown benefit ...
Nienke Wagenaar +5 more
core +1 more source
Altering rRNA 2’O-methylation pattern during neuronal differentiation is regulated by FMRP
The Fragile X Messenger Ribonucleoprotein (FMRP) is a selective RNA-binding protein that localizes to the cytoplasm and the nucleus. The loss of FMRP results in Fragile X Syndrome (FXS), an autism spectrum disorder.
Michelle Ninochka D’Souza +5 more
doaj +1 more source
Posterior Cortical Atrophy in the Asia‐Pacific: A Report From the PCA Asian Workgroup
ABSTRACT Objective Posterior Cortical Atrophy (PCA) is a distinct dementia syndrome primarily affecting spatial abilities and visual processing. It is associated with degeneration in the posterior part of the brain. PCA is subclassified into PCA‐pure and PCA‐plus syndromes based on consensus criteria.
Yuttachai Likitjaroen +11 more
wiley +1 more source
Over the course of evolution, the amygdala (AMG) and medial frontal cortex (mPFC) network, involved in behavioral adaptation, underwent structural changes in the old-world monkey and human lineages.
Camille Giacometti +8 more
doaj +1 more source

