Results 161 to 170 of about 1,336,490 (306)
Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez +5 more
wiley +1 more source
The Association of Amyloid‐β and Tau With Synaptic Dysfunction in Alzheimer's Disease
ABSTRACT Objective To clarify the relative contributions of amyloid and tau to synaptic dysfunction in Alzheimer's disease (AD). Methods We included 109 cognitively unimpaired and impaired individuals from the Geneva Memory Center with available CSF synaptic biomarkers (neurogranin, SNAP‐25, GAP‐43). Participants were stratified according to amyloid (A)
Fausto Roveta +11 more
wiley +1 more source
Myostatin/Smad3 in Spinal Muscular Atrophy: Biomarkers of Disease Severity and Treatment Response
ABSTRACT Objective Given the role of Myostatin (MSTN) in muscle homeostasis and its modulation by current spinal muscular atrophy (SMA) therapies, we investigated serum MSTN and, for the first time, its downstream effector Smad3 as candidate non‐invasive biomarkers in SMA patients undergoing disease‐modifying therapies (DMTs).
Giorgia Riolo +11 more
wiley +1 more source
A hybrid ANN-PSO approach for self-tuning parameters of polycrystalline photovoltaic arrays
This paper introduces a novel, self-tuning equivalent circuit model for polycrystalline photovoltaic (PV) modules to overcome the accuracy limitations of conventional fixed-parameter models under dynamic climatic conditions.
Zouhir Boumous +5 more
doaj +1 more source
Objective To investigate the association between rheumatoid arthritis (RA) and coronary artery calcium (CAC) prevalence, incidence, and progression over four years in adults without prior cardiovascular disease. Methods A case‐cohort study within the Brazilian Longitudinal Study of Adult Health (ELSA‐Brasil) included 585 participants (86 patients with ...
Patrícia Fonseca Estrada +7 more
wiley +1 more source
Objective Race and household income impact outcomes in patients with rheumatic conditions; however, their role in pediatric antineutrophil cytoplasmic antibody (ANCA)–associated vasculitis (AAV) remains poorly understood. We aimed to evaluate whether race and ethnicity and household income are associated with severe AAV disease and renal outcomes among
Roberto Alejandro Valdovinos +2 more
wiley +1 more source
The Gut–Heart Axis in Systemic Sclerosis: Evidence From a Large Prospective Early Disease Cohort
Objective Cardiac involvement significantly impacts prognosis in systemic sclerosis (SSc), highlighting the need for early risk stratification. Gastrointestinal (GI) symptoms are common and often manifest early. Emerging data suggest a link between GI and cardiac manifestations, possibly through shared mechanisms like dysautonomia.
Francesca R. Di Ciommo +9 more
wiley +1 more source
The 0-1 inverse maximum stable set problem [PDF]
Given an instance of a weighted combinatorial optimization problem and its feasible solution, the usual inverse problem is to modify as little as possible (with respect to a fixed norm) the given weight system to make the giiven feasible solution optimal.
Yerim Chung, Marc Demange
core
Anorectal Dysfunction in Systemic Sclerosis: Clinical Phenotypes and Functional Patterns
Objective The aim of this study was to characterize specific physiologic defects in anorectal dysfunction in systemic sclerosis (SSc) using anorectal manometry (ARM), evaluate associations with gastrointestinal (GI) and extraintestinal clinical phenotypes, and explore potential serologic markers for risk stratification.
Timothy Kaniecki +6 more
wiley +1 more source
Objective To assess the validity of the Patient‐Reported Outcomes Measurement Information System (PROMIS) Pediatric measures in patients with chronic nonbacterial osteomyelitis (CNO). Methods Within the longitudinal patient registry of CNO, English‐speaking patients aged 8 years and older self‐reported PROMIS Pediatric measures of fatigue, pain ...
Mary M. Eckert +43 more
wiley +1 more source

