RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
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
[Impact of cord blood donation on postpartum hemorrhage and neonatal outcomes]. [PDF]
Esteban-Bañó R +5 more
europepmc +1 more source
Choroid Plexus Enlargement and USPIO‐Based Inflammatory Feature in Cerebral Small Vessel Disease
ABSTRACT Objective The choroid plexus (CP) is a key component of the blood–cerebrospinal fluid barrier (BCSFB), but its mechanism of action in cerebral small vessel disease (CSVD) remains unclear. This study investigated CP volume (CPV) alterations and their association with conventional imaging markers in CSVD and explored the underlying role of ...
Yongqiang Qu +11 more
wiley +1 more source
Validación de contenido de la cartilla de salud “Una década de amor”, en Colombia
Fundamento: aunque las estadísticas han mostrado una reducción progresiva en las tasas de mortalidad infantil, esta continúa persistiendo como un desafío en muchos países, donde la promoción y prevención en la salud busca fortalecer las habilidades de ...
Claudia Patricia Briceño Velandia +1 more
doaj
[Validation of COVID-19 vaccines administered abroad: experience and challenges of implementation in ChileRegistro de vacinação contra a COVID-19: experiência e desafios relacionados com a implementação no Chile]. [PDF]
Santos-López M +3 more
europepmc +1 more source
Advancing Age Modulates Associations Between Cognitive Impairment and Brain Volumes in Early MS
ABSTRACT Introduction Cognitive impairment is common in multiple sclerosis (MS), but manifestations following the first demyelinating event are relatively unexplored. We investigated cross‐sectional associations between magnetic resonance imaging (MRI)–derived brain volumes and the presence of cognitive impairment outcomes five years after the first ...
Piriyankan Ananthavarathan +14 more
wiley +1 more source
[Preand Post-Processing Evaluations of Manual and Automated Endoscopes: A Microbiological Isolation]. [PDF]
Medeot R +5 more
europepmc +1 more source
ABSTRACT Background Cognitive impairment is a common non‐motor symptom in Multiple Sclerosis (MS), negatively affecting autonomy and Quality of Life (QoL). Innovative rehabilitation strategies, such as semi‐immersive virtual reality (VR) and computerized cognitive training (CCT), may offer advantages over traditional cognitive rehabilitation (TCR ...
Maria Grazia Maggio +8 more
wiley +1 more source
[Vancouver Style or NLM Format: Towards citation standardization]. [PDF]
Chávez-Martínez O.
europepmc +1 more source
Manual Destructivista/Destructivist manual [PDF]
openaire +1 more source

