Results 161 to 170 of about 253,674 (309)

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi   +6 more
wiley   +1 more source

Lower levels of Th1 and Th2 cytokines in cerebrospinal fluid (CSF) at the time of initial CSF shunt placement in children are associated with subsequent shunt revision surgeries. [PDF]

open access: yesCytokine, 2023
Simon TD   +11 more
europepmc   +1 more source

Fat droplets in the cerebrospinal fluid (CSF) spaces of the brain. [PDF]

open access: yesAIMS Neurosci
Reed M   +4 more
europepmc   +1 more source

Parasagittal dural space and cerebrospinal fluid (CSF) flow across the lifespan in healthy adults. [PDF]

open access: yesFluids Barriers CNS, 2022
Hett K   +7 more
europepmc   +1 more source

Research progress on biomarkers of traumatic brain injury

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Traumatic brain injury: From primary insult to secondary neuroinflammation and degeneration. Abstract Traumatic brain injury (TBI) is a common disorder of the nervous system and has become a leading cause of death and disability worldwide, imposing a substantial burden on patients and their social circles. Its main symptoms include dyskinesia, language
Xuting Shen   +8 more
wiley   +1 more source

CSF‐Compartmentalized Antibody Glycoprofiles in NMDAR Encephalitis Associate with Etiology and Functional Recovery

open access: yesAnnals of Neurology, EarlyView.
Objective To characterize Fc‐glycosylation profiles in patients with anti‐N‐methyl‐D‐aspartate receptor encephalitis (NMDARe) and assess their association with antibody compartmentalization (cerebrospinal fluid [CSF] vs serum), disease triggers (viral, tumor‐related or idiopathic), and 1‐year outcomes.
Laura Marmolejo   +16 more
wiley   +1 more source

Chronological Diagnostic Algorithm Predicting Neuropathology in Parkinsonism

open access: yesAnnals of Neurology, EarlyView.
Objective Pre‐mortem diagnosis of parkinsonism is often challenging due to atypical presentations, overlapping syndromes, and co‐pathologies. This study aimed to develop a machine learning‐based algorithm predicting neuropathology in parkinsonism using chronological clinical presentations, which has previously been underexplored.
Daisuke Ono   +5 more
wiley   +1 more source

Chemokine associations with blood cerebrospinal fluid (CSF) barrier permeability and delirium. [PDF]

open access: yesBrain Behav Immun Health
Denver P   +11 more
europepmc   +1 more source

Altered Cerebrospinal Fluid (CSF) in Children with Ataxia Telangiectasia. [PDF]

open access: yesCerebellum, 2021
Woelke S   +8 more
europepmc   +1 more source

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