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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 PDFCitrus Black Spot Symptoms on Fruit Exposed to Infections at Different Developmental Stages.
Plant Environ Interact
February 2025
Citrus Research International Nelspruit South Africa.
Citrus black spot (CBS), caused by , is an important fungal disease of citrus. Higher CBS severity has been associated with infections at the young and green stages of fruit. The length of the fruit susceptibility period may be influenced by the amount of inoculum and the climate of the citrus growing region.
View Article and Find Full Text PDFDiagnostic accuracy of Bellavere's score in cardiac autonomic neuropathy among chronic kidney disease patients: a study of prevalence and dialysis impact.
Front Med (Lausanne)
January 2025
Department of General Medicine, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research (DMIHER), Wardha, India.
Background: Cardiac autonomic neuropathy (CAN) is a significant complication in chronic kidney disease (CKD), leading to increased morbidity and mortality. Early detection is essential for managing CKD patients effectively, especially those on hemodialysis. This study evaluated the prevalence CAN in CKD and diagnostic accuracy of Bellavere's Score in predicting CAN in CKD patients, including those undergoing hemodialysis.
View Article and Find Full Text PDFNLRP3 deficiency aggravated DNFB-induced chronic itch by enhancing type 2 immunity IL-4/TSLP-TRPA1 axis in mice.
Front Immunol
January 2025
Department of Pain Management, The State Key Specialty in Pain Medicine, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China.
Background: The nod-like receptor family pyrin domain-containing 3 (NLRP3) has been implicated in various skin diseases. However, its role in mediating 2, 4-dinitrofluorobenzene (DNFB)-induced chronic itch remains unclear.
Methods: Widetype () and deletion ( )mice, the expression of transient receptor potential (TRP) ankyrin 1 (TRPA1) inhibitor or recombinant mice interleukin-18 (IL-18) were used to establish and evaluate the severity of DNFB-mediated chronic itch.
Tuberculous meningitis diagnosis and treatment: classic approaches and high-throughput pathways.
Front Immunol
January 2025
Rehabilitation Medicine Department, The Affiliated Changsha Hospital of Xiangya School of Medicine, Central South University (The First Hospital of Changsha, Changsha, China.
Tuberculous meningitis (TBM), a severe form of non-purulent meningitis caused by (Mtb), is the most critical extrapulmonary tuberculosis (TB) manifestation, with a 30-40% mortality rate despite available treatment. The absence of distinctive clinical symptoms and effective diagnostic tools complicates early detection. Recent advancements in nucleic acid detection, genomics, metabolomics, and proteomics have led to novel diagnostic approaches, improving sensitivity and specificity.
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