Results 61 to 70 of about 33,572 (265)
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
Background We examined the risk for Group B streptococcus (GBS)-related diseases in newborns born to mothers who participated in a universal GBS screening program and to determine whether differences are observed in factors affecting the morbidity for ...
Li-Chen Hung +8 more
doaj +1 more source
ABSTRACT Background Collaterals are crucial factors that influence the infarct growth rate (IGR). We aimed to determine whether a comprehensive multimodal collateral score (MCS), incorporating collateral assessment at the arterial, tissue, and venous levels, is associated with functional independence and provides incremental prognostic value over ...
Giorgio Busto +12 more
wiley +1 more source
Association Between Motor Pathway Damage and Motor Deficit in Upper and Lower Limb in People With MS
ABSTRACT Objective Corticospinal tract damage is common in people with MS, but the degree of clinical symptoms varies. We hypothesize that corticospinal tract lesions are more extensive and severe in people with MS with motor impairments in both upper and lower limbs.
Mathilde Liffran +13 more
wiley +1 more source
Exploring the Role of Nuclear Factor Kappa B in the Immunobiology of Inflammatory Neuropathies
Background and Objectives: Guillain-Barré syndrome (GBS) and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) are inflammatory conditions, representing prototype examples of immune-mediated disorders of the peripheral nervous system ...
Madhu Nagappa +7 more
doaj +1 more source
ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers +19 more
wiley +1 more source
The journey to diagnosis for patients with CIDP: results from a real-world international survey
IntroductionChronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP) is a rare autoimmune disorder affecting the peripheral nerves, typically characterized by muscle weakness and sensory deficits.
Clémence Arvin-Berod +12 more
doaj +1 more source
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
Pathological manifestations and immune responses of serotypes Ia and III Streptococcus agalactiae infections in Nile tilapia (Oreochromis niloticus) [PDF]
Streptococcus agalactiae (Group B Streptococcus, GBS) infections cause serious worldwide damage to fish farming. Here, we evaluated the pathological manifestations and immune responses of Nile tilapia (Oreochromis niloticus) infected with GBS serotype ...
Atchariya Suwannasang +4 more
doaj
Neurologic Manifestations of Long COVID Affect Adult Females More Severely Than Males
ABSTRACT Objective To characterize differences in neurologic manifestations of postacute sequelae of SARS‐CoV‐2 infection (Neuro‐PASC) between females and males. Methods Cross‐sectional study of the first consecutive 261 posthospitalization Neuro‐PASC (PNP) and 2068 nonhospitalized Neuro‐PASC (NNP) patients evaluated at the Neuro‐COVID clinic between ...
Hannah Kopinsky +5 more
wiley +1 more source

