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A Novel COL7A1 Mutation in a Patient With Dystrophic Epidermolysis Bullosa. Successful Treatment With Upadacitinib.
Clin Cosmet Investig Dermatol
January 2025
Department of Dermatology, Candidate Branch of National Clinical Research Centre for Skin and Immune Diseases, First Affiliated Hospital of Gannan Medical University, Ganzhou, 341000, People's Republic of China.
Dystrophic epidermolysis bullosa (DEB) is a heterogeneous and rare genetic skin disease caused by mutations in the gene, which encodes Type VII collagen. The absence or dysfunction of Type VII collagen can cause the dense lower layer of the basal membrane zone of the skin to separate from the dermis, leading to blister formation and various complications. In different DEB subtypes, the severity of the phenotype is associated, to some extent, with the outcome of Type VII collagen caused by mutations in the gene, which may be reduced in expression, remarkably reduced, or completely absent.
View Article and Find Full Text PDFAPOE Christchurch enhances a disease-associated microglial response to plaque but suppresses response to tau pathology.
Mol Neurodegener
January 2025
Department of Neurobiology and Behavior, Charlie Dunlop School of Biological Sciences, University of California, Irvine, CA, 92697-4545, USA.
Background: Apolipoprotein E ε4 (APOE4) is the strongest genetic risk factor for late-onset Alzheimer's disease (LOAD). A recent case report identified a rare variant in APOE, APOE3-R136S (Christchurch), proposed to confer resistance to autosomal dominant Alzheimer's Disease (AD). However, it remains unclear whether and how this variant exerts its protective effects.
View Article and Find Full Text PDFMetastatic Alveolar Soft Part Sarcoma Presenting as an Adrenal Incidentaloma: A Case Report with Review of Literature.
Int J Surg Pathol
January 2025
Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.
Metastasis of alveolar soft part sarcoma (ASPS) to the adrenal gland is infrequent, with only eight patients reported in the literature. Here we present an ASPS in an adolescent girl presented as a hypervascular adrenal incidentaloma along with a review of the available literature. This study aims to serve as a reference to aid in the pre-operative radiological and histopathological diagnosis of this rare entity.
View Article and Find Full Text PDFDiagnostic Difficulties of Erosive Lichen Planus in a Pediatric Patient.
Diagnostics (Basel)
December 2024
Department of Dermatology, Medical University of Warsaw, 02-006 Warsaw, Poland.
Lichen planus (LP) is a chronic inflammatory disease that can present with significant morbidity, particularly in children. Erosive lichen planus (ELP), its rare destructive subtype, can be particularly difficult to diagnose and manage. We present a rare pediatric case of ELP with multisite involvement and discuss the differential diagnosis.
View Article and Find Full Text PDFSevere Adult-Onset Non-Dystrophic Myotonia With Apnea and Laryngospasm Due to Digenic Inheritance of and Variants: A Case Report.
Neurol Genet
February 2025
Department of Neurology and.
Objectives: To report a case of adult-onset non-dystrophic myotonia complicated by recurrent episodes of laryngospasm.
Methods: The patient is a 35-year-old man who was admitted to our hospital for recurrent episodes of apnea requiring endotracheal intubation with mechanical ventilation. He underwent extensive evaluation, including EMG, laryngoscopy, muscle biopsy, and genetic testing, which revealed a diagnosis of non-dystrophic myotonia.
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