Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.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
Posterior Cortical Atrophy in the Asia‐Pacific: A Report From the PCA Asian Workgroup
Annals of Clinical and Translational Neurology, EarlyView.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
A history of concussions is associated with symptoms of common mental disorders in former male professional athletes across a range of sports [PDF]
, 2017 Objective: Recent reports suggest that exposure to repetitive concussions in sports is associated with an increased risk of symptoms of distress, anxiety and depression, sleep disturbance or substance abuse/dependence (typically referred as symptoms of ...
Aoki, Haruhito +4 more
core +14 more sources
HUBUNGAN ANTARA GANGGUAN TIDUR DENGAN PERKEMBANGAN BATITA [PDF]
, 2015 Background Development is multifactorial. Development resulted from interaction among central nervous system and the innervated organs. The first three years of life was golden period for brain maturity which influenced by sleep.
Faniyah, Falah +2 more
core +1 more source
Bright light therapy as part of a multicomponent management program improves sleep and functional outcomes in delirious older hospitalized adults. [PDF]
, 2013 ObjectiveDelirium is associated with poor outcomes following acute hospitalization. A specialized delirium management unit, the Geriatric Monitoring Unit (GMU), was established.
Ancoli-Israel, Sonia +4 more
core +1 more source
A Systematic Review and Meta‐Analysis of the Recurrence of Autoimmune Encephalitis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Autoimmune encephalitis (AE) is a disease with a potential for recurrence, and patients receive immunotherapy to prevent it. However, there is no consensus on the duration of immunotherapy. This study aimed to determine the recurrence rate and identify the risk factors for AE to provide guidance on the duration of immunotherapy ...
Shangkai Bai +5 more
wiley +1 more source
Daily Sleep Quality is Associated with Daily Cognition in Late-Life [PDF]
, 2020 Background: Older adults often face sleep disturbance or cognitive decline that goes beyond the scope of normal aging. The present study examined the relationship between self-reported sleep quality and self-reported daytime attention in a community ...
Alessi, Cathy A. +5 more
core +1 more source
Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyria. [PDF]
, 2020 PurposeAcute intermittent porphyria (AIP) is a rare inborn error of heme biosynthesis characterized by life-threatening acute attacks. Few studies have assessed quality of life (QoL) in AIP and those that have had small sample sizes and used tools that ...
Anderson, Karl E +14 more
core +1 more source
CSF Monoamine Metabolites and Cognitive Trajectory in Early Parkinson's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Imaging and postmortem studies indicate that abnormalities in monoaminergic neurotransmission contribute to cognitive impairment in Parkinson's disease (PD). However, it remains uncertain if cerebrospinal fluid (CSF) monoamine metabolites can serve as biomarkers of cognitive decline in early PD.
Jing‐Yu Shao +7 more
wiley +1 more source
Correlations between sleep disturbance and brain cortical morphometry in healthy children
Sleep Science and Practice, 2021 Background While the importance of adequate sleep duration to normal brain development is well known, more studies are needed to characterize how undiagnosed sleep disturbance other than suboptimal sleep duration may impact brain development.
Xiaoxu Na +5 more
doaj +1 more source