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
SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas +18 more
wiley +1 more source
Relapsing–Remitting Multiple Sclerosis Is Associated With a Dysbiotic Oral Microbiome
ABSTRACT Objective Multiple sclerosis (MS) is a chronic autoimmune disorder characterized by inflammation, demyelination, and neurological impairment. While the gut microbiota's role in MS is extensively studied, the association between the oral microbiota and MS remains underexplored, particularly in North American cohorts.
Sukirth M. Ganesan +12 more
wiley +1 more source
Mucorales PCR Testing in Respiratory and Biopsy Samples From Immunocompromised Patients With Invasive Pulmonary Aspergillosis and Other Mold Infections: Results From a Multicenter ECMM Study. [PDF]
Sedik S +13 more
europepmc +1 more source
Decreased Serum 5‐HT: Clinical Correlates and Regulatory Role in NMJ of MG
ABSTRACT Objective Although 5‐Hydroxytryptamine (5‐HT) indirectly stimulates muscle contraction and participates in regulating Acetylcholine receptor (AChR) cluster homeostasis in cellular, animal, and clinical studies, evidence regarding its potential to modulate muscle contraction in myasthenia gravis (MG) remains limited.
Xinru Shen +18 more
wiley +1 more source
Application of microfluidic chip-based multiplex PCR in diagnosing reproductive tract pathogens among patients with premature rupture of membranes. [PDF]
Zhang L, Shao Z.
europepmc +1 more source
ABSTRACT Background Apolipoprotein ε4 (APOE ε4) is a potent genetic risk factor for Alzheimer's disease (AD). However, its role in cerebral small vessel disease (CSVD) remains unclear. Given the clinical and pathological similarities between CSVD and AD, this study aimed to investigate the associations of APOE ε4 gene dosage with cognitive function and
Tingru Jin +6 more
wiley +1 more source
Platelet-to-C-reactive protein ratio stratifies surgical risk and mortality in necrotizing enterocolitis neonates with portal venous gas. [PDF]
Zhang X +6 more
europepmc +1 more source
ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake +12 more
wiley +1 more source

