Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon +5 more
wiley +1 more source
Core based comparison of cancer detection between systematic biopsy group and targeted biopsy group.
TB = Target biopsy; SB = Systematic biopsy; PI-RADS = Prostate Imaging Reporting and Data System; n/a = not applicable; CEUS = contrast enhanced ultrasound* Positive/Total cores (cancer detection rates)Core based comparison of cancer detection between ...
Young Taik Oh (756437) +8 more
core +1 more source
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit +11 more
wiley +1 more source
Human Pegivirus Encephalitis With Brain Detection and Response to Sofosbuvir Ledipasvir
ABSTRACT Human pegivirus (HPgV‐1) has been associated with severe encephalomyelitis in immunocompromised patients. Its neurological spectrum remains poorly defined. We report a slowly progressive encephalitis in a person living with well‐controlled HIV, characterized by white matter abnormalities and inflammatory cerebrospinal fluid (CSF). HPgV RNA was
Antoine Moulignier +3 more
wiley +1 more source
Mri-Ultrasound Fusion Targeted Biopsy In Men With Prior Negative Prostate Biopsy For Prostate Cancer [PDF]
A particularly challenging subpopulation of prostate cancer patients are those who present with a persistently elevated PSA and suspicion of prostate cancer despite having had one or more prior negative prostate biopsies.
Say, Rollin
core +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
Characterizing Cutaneous α‐Synuclein Deposition and Seeding Activity in Parkinson's Disease Subtypes
ABSTRACT Objective Cutaneous phosphorylated α‐synuclein (p‐syn) and α‐synuclein seeding activity are promising biomarkers for Parkinson's disease (PD), but their clinical value remains uncertain due to disease heterogeneity. This study evaluates these two biomarkers in PD patients to inform phenotype‐specific diagnosis and disease severity assessment ...
Yuting Jin +8 more
wiley +1 more source
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem +9 more
wiley +1 more source
Biopsy interpretation of the thyroid Biopsy interpretation series./ Scott Boerner, Sylvia L. Asa.
The normal thyroid -- The classification of thyroid pathology -- The cytologic approach to diagnosis of thyroid pathology : technical aspects -- The histologic biopsy of thyroid : technical aspects -- Ancillary tools in thyroid diagnosis -- Cystic ...
Boerner Scott L.,, Asa Sylvia L.,
core
Diffuse MRI Edema Predicts Relapse in Cerebral Amyloid Angiopathy–Related Inflammation
ABSTRACT Objective To identify MRI predictors of relapse and quantify relapse and mortality risk in cerebral amyloid angiopathy–related inflammation (CAA‐RI). A secondary objective was to assess the association between mycophenolate mofetil use and relapse risk. Methods We performed a retrospective cohort study of 36 patients with CAA‐RI treated at the
G. Abbas Kharal +10 more
wiley +1 more source

