Results 101 to 110 of about 1,348,336 (267)

The Diverse Neuromuscular Spectrum of VPS13A Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger   +16 more
wiley   +1 more source

Systemic T Cell Receptor Profiling Reveals Adaptive Immune Activation and Potential Immune Signatures of Diagnosis and Brain Atrophy in Epilepsy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Epilepsy is increasingly associated with immune dysregulation and inflammation. The T cell receptor (TCR), a key mediator of adaptive immunity, shows repertoire alterations in various immune‐mediated diseases. The unique TCR sequence serves as a molecular barcode for T cells, and clonal expansion accompanied by reduced overall TCR ...
Yong‐Won Shin   +12 more
wiley   +1 more source

Circulating peripheral blood plasma cells as a prognostic indicator in patients with primary systemic amyloidosis [PDF]

open access: bronze, 2003
Animesh Pardanani   +11 more
openalex   +1 more source

INF2‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2‐related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune‐mediated disorders such as ...
Chikashi Yano   +27 more
wiley   +1 more source

Impact of Chemotherapy on Circulating Lymphocyte Subsets in Lung Cancer Patients

open access: yesCancer Management and Research
Wei Hong,1 Lei Zhang,1 Youkun Qi,2 Yanjun Wang,1 Wentao Wang3 1Oncology, The Second People’s Hospital of Liaocheng, Liaocheng, Shandong, People’s Republic of China; 2Pharmacy, The Second People’s Hospital of Liaocheng, Liaocheng, Shandong, People’s ...
Hong W, Zhang L, Qi Y, Wang Y, Wang W
doaj  

Comparison of 46 Cytokines in Peripheral Blood Between Patients with Papillary Thyroid Cancer and Healthy Individuals with AI-Driven Analysis to Distinguish Between the Two Groups

open access: yesDiagnostics
Background: Recent studies have analyzed some cytokines in patients with papillary thyroid carcinoma (PTC), but simultaneous analysis of multiple cytokines remains rare.
Kyung-Jin Bae   +3 more
doaj   +1 more source

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco   +18 more
wiley   +1 more source

Reduced antiviral gene expression and elevated CXCL8 expression in peripheral blood are associated with severe hypoxemia in RSV-infected children

open access: yesFrontiers in Immunology
The pathology of respiratory syncytial virus (RSV) infection remains unclear. An unbalanced immune response to RSV infection can lead to immunopathology, causing airway damage and impaired exchange of oxygen and carbon dioxide between the air and the ...
Carlos Pita-Martínez   +13 more
doaj   +1 more source

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