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CJC Open
January 2025
Department of Cardiovascular Medicine, Kyorin University, Tokyo, Japan.
Cureus
December 2024
Rheumatology, University of British Columbia, Faculty of Medicine, Vancouver, CAN.
Idiopathic inflammatory myopathies (IIM), or myositis, are a heterogeneous group of autoimmune disorders that can affect multiple organs, including the muscles, skin, joints, lungs, heart, and gastrointestinal tract. While new-onset myositis has been reported following SARS-CoV-2 infection, cases associated with COVID-19 vaccination remain rare. We describe a unique case of severe progressive edematous facial myositis resembling angioedema in a 22-year-old man, with onset one to two weeks after receiving dual SARS-CoV-2 and influenza vaccinations.
View Article and Find Full Text PDFFront Immunol
January 2025
Laboratory of Molecular Immunology, Institute of Molecular Biology, Slovak Academy of Sciences, Bratislava, Slovakia.
Introduction: Diffuse parenchymal lung diseases (DPLD) cover heterogeneous types of lung disorders. Among many pathological phenotypes, pulmonary fibrosis is the most devastating and represents a characteristic sign of idiopathic pulmonary fibrosis (IPF). Despite a poor prognosis brought by pulmonary fibrosis, there are no specific diagnostic biomarkers for the initial development of this fatal condition.
View Article and Find Full Text PDFAndrology
January 2025
Division of Pediatric Endocrinology, All India Institute of Medical Sciences, New Delhi, India.
Background: 46, XY disorders of sex development (DSD) are a group of highly heterogeneous conditions in which the molecular etiology remains unknown in a significant proportion of patients, even with massive parallel sequencing. Clinically significant copy number variants (CNVs) are identified in 20-30% of cases, particularly among those with gonadal dysgenesis (GD) and no molecular diagnosis.
Methods: Fourteen patients with 46, XY DSD due to GD in whom no pathogenic/likely pathogenic variants were found on next-generation sequencing using a targeted panel of 155 genes were screened for clinically significant CNVs using Affymetrix Comparative Genomic Hybridization (CGH).
Laryngoscope
January 2025
Otolaryngology Department, Hospital Universitario Ramón y Cajal, Madrid, Spain.
Objectives: To analyze the prognostic value of markers available at the onset of idiopathic facial palsy. To define the evolution of the episode by tracing changes in facial function over time.
Methods: This is an observational prospective study on patients with facial palsy consulting in the first 24 hs.
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