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Milestone events in recessive dystrophic epidermolysis bullosa (RDEB): findings of the PEBLES Study.
Clin Exp Dermatol
January 2025
St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust, London, UK.
Background: In recessive dystrophic epidermolysis bullosa (RDEB), complications like oesophageal strictures, hand contractures, cardiomyopathy and cutaneous squamous cell carcinoma (SCC) may develop, necessitating procedures such as oesophageal dilatation (OD), gastrostomy tube placement and hand surgery.
Objectives: To determine prevalence and age of onset of milestone events by RDEB subtype, specifically dysphagia, first OD, first gastrostomy tube, first hand surgery, cardiomyopathy, first SCC and death.
Methods: The Prospective Epidermolysis Bullosa Longitudinal Evaluation Study (PEBLES) is a register study of individuals with RDEB which records comprehensive EB- and non-EB-related health information.
Retinal Vasculitis as a Rare Presentation of Microscopic Polyangiitis.
Cureus
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Internal Medicine, Unidade Local de Saúde de Coimbra, Coimbra, PRT.
Microscopic polyangiitis (MPA) is a rare, autoimmune, small-vessel vasculitis usually described with the presence of perinuclear antineutrophil cytoplasmic antibodies (p-ANCA). It encompasses a broad spectrum of clinical features, including fatigue, weight loss, fever, arthralgia, skin lesions, and involvement of the lungs or kidneys. Ocular manifestations, however, are extremely rare.
View Article and Find Full Text PDFIncreased TSPO alleviates neuropathic pain by preventing pyroptosis via the AMPK-PGC-1α pathway.
J Headache Pain
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Department of Hand and Foot Surgery, China-Japan Union Hospital of Jilin University, Changchun, China.
Neuropathic pain poses a significant clinical challenge, largely due to the incomplete understanding of its molecular mechanisms, particularly the role of mitochondrial dysfunction. Bioinformatics analysis revealed that pyroptosis and inflammatory responses induced by spared nerve injury (SNI) in the spinal dorsal horn play a critical role in the initiation and persistence of neuropathic pain. Among the factors involved, TSPO (translocator protein) emerged as a key regulator.
View Article and Find Full Text PDFEctopic overexpression of DNA-/RNA-binding Alba proteins misregulates virulence gene homeostasis during asexual blood development.
Microbiol Spectr
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Institute of Bioinformatics and Applied Biotechnology, Bengaluru, Karnataka, India.
Alba domain-containing proteins are ubiquitously found in archaea and eukaryotes. By binding to either DNA, RNA, or DNA:RNA hybrids, these proteins function in genome stabilization, chromatin organization, gene regulation, and/or translational modulation. In the malaria parasite , six Alba domain proteins PfAlba1-6 have been described, of which PfAlba1 has emerged as a "master regulator" of translation during parasite intra-erythrocytic development (IED).
View Article and Find Full Text PDFAmenorrhea is a common symptom of a whole range of nosologies among women of reproductive age, which can accompany any endocrinopathy in the stage of decompensation. In all the diversity of various links in the pathogenesis of reproductive disorders, the problem of immunopathology remains a little aside, however, the significance of these disorders is underestimated. This publication provides an overview of immune system abnormalities in a women with amenorrhea.
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