Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy
ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino +25 more
wiley +1 more source
Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova +9 more
wiley +1 more source
"It totally depends on the goodwill of the health professional": health seeking behavior and access to health services among street children infested with scabies in Ethiopia. [PDF]
Zewude B +4 more
europepmc +1 more source
Verbalising importance of supply chain management in access to health services. [PDF]
Ghaffar A, Rashidian A, Khan W, Tariq M.
europepmc +1 more source
ABSTRACT Objective Building on our prior Behavioral Risk Factor Surveillance System analysis identifying adults aged 18–39 as the primary driver of the national increase in self‐reported cognitive disability, we examined factors associated with this rise using 2013–2024 U.S. BRFSS data. Methods We analyzed U.S.
Adam de Havenon +9 more
wiley +1 more source
Determination of Toddler Stunting in Indonesia 2020–2023 from an Economic Perspective
Stunting is a condition characterized by stunted growth and development in children caused by nutritional problems, infectious diseases, and various other factors that can affect children's health.
Rianita Maharani +1 more
doaj
Adolescents, health services, and access to care
openaire +2 more sources
Sociodemographic profile and access to health services among people attending the Transgender Outpatient Clinic: a cross-sectional study, Brazilian Federal District, 2018-2022. [PDF]
Freitas FLS +2 more
europepmc +1 more source
ABSTRACT Objective To determine whether myelin‐sensitive quantitative MRI reveals microstructural abnormalities in normal‐appearing cortex (NACtx) in myelin oligodendrocyte glycoprotein antibody–associated disease (MOGAD), indicating that conventional MRI underestimates remission residual cortical injury.
Valentina Camera +20 more
wiley +1 more source
Mental health of people with limited access to health services: a retrospective study of patients attending a humanitarian clinic network in Germany in 2021. [PDF]
Mugambwa KA +4 more
europepmc +1 more source

