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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 PDFA reproducible framework for monitoring the impact of randomized clinical trials on clinical practice using large-scale real-world data: application to gynaecological surgical trials using the French national healthcare database.
EClinicalMedicine
February 2025
Department of Breast and Gynaecological Surgery, Institut Curie, Paris, France.
Background: Randomized clinical trials (RCTs) are fundamental to evidence-based medicine, but their real-world impact on clinical practice often remains unmonitored. Leveraging large-scale real-world data can enable systematic monitoring of RCT effects. We aimed to develop a reproducible framework using real-world data to assess how major RCTs influence medical practice, using two pivotal surgical RCTs in gynaecologic oncology as an example-the LACC (Laparoscopic Approach to Cervical Cancer) and LION (Lymphadenectomy in Ovarian Neoplasms) trials.
View Article and Find Full Text PDFThe role of M1/M2 macrophage polarization in the pathogenesis of obesity-related kidney disease and related pathologies.
Front Immunol
January 2025
Laboratory of Immunohematology, Department of Internal Medicine, Medical School, University of Patras, Patras, Greece.
Obesity is a rapidly growing health problem worldwide, affecting both adults and children and increasing the risk of chronic diseases such as type 2 diabetes, hypertension and cardiovascular disease (CVD). In addition, obesity is closely linked to chronic kidney disease (CKD) by either exacerbating diabetic complications or directly causing kidney damage. Obesity-related CKD is characterized by proteinuria, lipid accumulation, fibrosis and glomerulosclerosis, which can gradually impair kidney function.
View Article and Find Full Text PDFFrequency of undiagnosed hypertension among diabetic patients with micro vascular complications.
Pak J Med Sci
January 2025
Syed Khurram Shehzad, Department of Medicine, Lahore Medical and Dental College, Lahore, Pakistan.
Objectives: To determine the frequency of undiagnosed hypertension among the diabetic patients with micro vascular complications.
Method: This is a descriptive case series conducted at Department of Medicine, Ghurki Trust Teaching Hospital, in this six month stud which enrolled 213 patients between 18-60 years from March 28, 2021 to September 28, 2021, having diabetes with microvascular complications. These patients were not previously diagnosed as hypertensives.
Revascularization of an Autotransplanted Mature Tooth After Extraoral Root Resection: A Case Report.
Case Rep Dent
January 2025
Institute of Dentistry and Oral Sciences, Faculty of Medicine, Palacky University, Olomouc, Czech Republic.
The outcome of tooth autotransplantation depends mainly on the transplant tooth's anatomy-the type of donor tooth and the developmental stage of root formation. Mature teeth display a higher complication rate due to lower pulp revascularization potential, requiring root canal treatment (RCT) pre- or postoperatively to avoid postoperative complications, which extends treatment duration and cost. This report details a 39-year-old patient's autotransplantation of a mature wisdom tooth to replace the first molar after unsuccessful root canal retreatment.
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