Results 71 to 80 of about 19,011 (212)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli +18 more
wiley +1 more source
Role of state and trait attachment dimensions on involvement in a close relationship [PDF]
, 2018 The aim of the study was to investigate the association between trait and state attachment features and involvement in a couple-relationship. Eighty-four participants of different nationalities completed Childhood Trauma Questionnaire (CTQ), Toronto ...
Aceto, Paola +5 more
core
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background Identifying predictive and monitoring biomarkers for allergen immunotherapy response is crucial for enhancing clinical efficacy. This study aims to investigate the systemic and local levels of immunoglobulins and identify potential biomarkers in house dust mite (HDM) allergic rhinitis (AR) patients who are undergoing subcutaneous ...
Xu Xu +6 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.Using the GSE225650 dataset, we performed differential expression gene (DEG) screening, Weighted Gene Coexpression Network Analysis (WGCNA), and immune infiltration profiling on atherosclerosis (AS) samples, yielding 104 shared candidate genes. Subsequently, these 104 candidate genes were intersected with ferroptosis‑ and autophagy‑related gene sets ...
Xinou Zheng +6 more
wiley +1 more source
Clinical significance of obstructive sleep apnea in patients with acute coronary syndrome in relation to diabetes status. [PDF]
, 2019 Objective: The prognostic significance of obstructive sleep apnea (OSA) in patients with acute coronary syndrome (ACS) according to diabetes mellitus (DM) status remains unclear. We aimed to elucidate the association of OSA with subsequent cardiovascular
Du, Yunhui +6 more
core +1 more source
Annals of Neurology, EarlyView.Objective To characterize Fc‐glycosylation profiles in patients with anti‐N‐methyl‐D‐aspartate receptor encephalitis (NMDARe) and assess their association with antibody compartmentalization (cerebrospinal fluid [CSF] vs serum), disease triggers (viral, tumor‐related or idiopathic), and 1‐year outcomes.
Laura Marmolejo +16 more
wiley +1 more source
Annals of Neurology, EarlyView.Objective Pathogenic variants in GNAO1 cause a spectrum of epilepsy, movement disorders, and developmental impairment. Clinical heterogeneity complicates prognosis and therapeutic development. We present the first longitudinal natural history study of GNAO1‐related disorders (GNAO1‐RD) to delineate phenotypic trajectories. Methods Sixty‐six individuals
Jana Domínguez‐Carral +52 more
wiley +1 more source
Annals of Neurology, EarlyView.The role of microglia has emerged as a critical driver of disease progression in multiple sclerosis (MS), but we lack broadly applicable monitoring tools. Here, we investigated whether hyperreflective foci (HRF), as detected by optical coherence tomography (OCT) within the inner nuclear layer (INL) of the retina, can be used as a marker for microglial ...
Jonathan A. Gernert +13 more
wiley +1 more source
Arthritis &Rheumatology, EarlyView.Interlukin‐5 (IL‐5) plays a crucial role in the pathogenesis of eosinophilic granulomatosis with polyangiitis (EGPA) by promoting eosinophil differentiation, activation, and survival. We present here a typical case of EGPA in which treatment with IL‐5 pathway inhibitors is prescribed, showing to be beneficial for the patient.
Alvise Berti, Christian Pagnoux
wiley +1 more source
Arthritis &Rheumatology, EarlyView.Objective To evaluate the prognostic utility of circulating interleukin‐18 (IL‐18) levels in predicting disease activity, macrophage activation syndrome (MAS), and disease course in patients with Still disease (SD) receiving first‐line IL‐1 inhibitors (IL‐1i).
Matteo Trevisan +8 more
wiley +1 more source