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
Global Prevalence of Alloimmunization in Adults with Sickle Cell Disease Receiving Red Blood Cell Transfusions: A Systematic Review and Meta-Analysis. [PDF]
Alsalman M +9 more
europepmc +1 more source
ABSTRACT Objective To assess the association and discriminative performance of serum biomarkers with clinical disease progression and survival in patients with amyotrophic lateral sclerosis (ALS). Methods This retrospective study, conducted at Houston Methodist Hospital, Houston, TX, used longitudinal serum samples collected between January 2018 and ...
David R. Beers +7 more
wiley +1 more source
Propensity score matching analysis of the association between Helicobacter pylori infection and colorectal polyps: A case-control study. [PDF]
Gong Y, Fan Z.
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
The current landscape of sex-based disparities in surgical treatment of essential tremor and Parkinson's disease amidst MRgFUS adoption. [PDF]
Ranjan M +12 more
europepmc +1 more source
Dementia Incidence in Individuals With Parkinson's Disease in the Framingham Heart Study
ABSTRACT Limited information exists on incident dementia in individuals with Parkinson's disease (PD) in US community‐based samples. We examined cognitive statuses and PD diagnoses of 183 individuals in the Framingham Heart Study (FHS) to establish incident dementia, mortality rates, associations with sex, age at PD onset, and education level.
Joshi Dookhy +11 more
wiley +1 more source
Gastropexy may reduce symptomatic recurrence in paraesophageal hernia repair: a Scandinavian retrospective multicenter study. [PDF]
Osterballe L +11 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

