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
Assessment of Undernutrition Among Under 5 Children in Developing Countries: A Systematic Review and Meta-Analysis. [PDF]
Health Sci RepNesa MK, Babu MR, Tasnim S, Uddin MJ.
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Emerging evidence suggests that low‐frequency neural oscillations are dynamically regulated by consciousness levels, with the recovery of low cortical activity potentially serving as a neurophysiological substrate for conscious emergence. Targeted enhancement of these low‐frequency rhythms in patients with disorders of consciousness
Chuan Xu +10 more
wiley +1 more source
Underweight is associated with detectable viral load among adolescents with HIV in rural eastern Uganda: a retrospective cohort study. [PDF]
J Health Popul NutrAuca A, Shalah Logose B, Izudi J.
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.Epigenetic reprogramming in hematopoietic stem and progenitor cells (HSPCs) and downstream myeloid cells, mediated by H3.3 downregulation and endogenous retroelement (ERE) overexpression, contributes to the progression of multiple sclerosis (MS). ABSTRACT Background Skewed myelopoiesis in the bone marrow has been identified as a key driver of multiple ...
Li‐Mei Xiao +6 more
wiley +1 more source
Multilevel Analysis of Severe Anthropometric Failure among Under-Five Children in Benin: A Cross-Sectional Study Using 2017 to 2018 Demographic and Health Survey Data. [PDF]
Ann Glob HealthMekonnen ED, Birhan NA, Belay DB.
europepmc +1 more source
SPG4 and Dementia: Expanding the Clinical Spectrum
Annals of Clinical and Translational Neurology, EarlyView.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
The role of household food insecurity in malnutrition among Indonesian children under 5 years of age: a systematic review and meta-analysis (2015-2025). [PDF]
Public Health NutrSutrisno R +5 more
europepmc +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.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
Excessive gestational weight gain and risk of asthma, rhinitis and allergic sensitization: Results from a Portuguese birth cohort. [PDF]
Pediatr Allergy ImmunolRodrigues M +4 more
europepmc +1 more source