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Anthracyclines disaggregate and restore mutant p63 function: a potential therapeutic approach for AEC syndrome.
Cell Death Discov
January 2025
Cutaneous Biology Research Center, Massachusetts General Hospital and Harvard Medical School, Charlestown, MA, 02129, USA.
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome is a rare genetic disorder caused by mutations in the TP63 gene, which encodes a transcription factor essential for epidermal gene expression. A key feature of AEC syndrome is chronic skin erosion, for which no effective treatment currently exists. Our previous studies demonstrated that mutations associated with AEC syndrome lead to p63 protein misfolding and aggregation, exerting a dominant-negative effect.
View Article and Find Full Text PDFDistinct clinical outcomes based on multiple serum cytokine and chemokine profiles rather than autoantibody profiles and ultrasound findings in rheumatoid arthritis: a prospective ultrasound cohort study.
RMD Open
January 2025
Department of Immunology and Rheumatology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
Objectives: To evaluate the potential of clinical factors, ultrasound findings, serum autoantibodies, and serum cytokine and chemokine profiles as predictors of clinical outcomes in rheumatoid arthritis (RA).
Patients And Methods: We included 200 patients with RA treated with biological and targeted synthetic disease-modifying antirheumatic drugs in a prospective multicentre ultrasound cohort study. Their serum levels of multiple cytokines and chemokines, rheumatoid factors, and serum autoantibodies (anti-cyclic citrullinated peptide-2 (anti-CCP2) and anti-carbamylated protein antibodies) were measured at baseline, 3 months and 12 months.
The Cell-Specific Effects of JAK1 Inhibitors in Ulcerative Colitis.
J Clin Med
January 2025
Department of Gastroenterology and Hepatology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
JAK1 inhibitors have become an important addition to the therapeutic options for ulcerative colitis (UC), targeting key inflammatory pathways mediated by cytokines such as the IL-6 family, interferons, IL-2 family, IL-10 family, and G-CSF. However, not all patients respond equally, and chronic inflammation persists in a subset of individuals. The variability in treatment response may reflect the heterogeneity of UC.
View Article and Find Full Text PDFThe Impact of Postoperative Prophylactic Medication on Long-Term Surgical, Severe Endoscopic and Endoscopic or Radiologic Recurrence Following Primary Ileocecal Resection in Patients With Crohn's Disease.
Aliment Pharmacol Ther
January 2025
Department of Gastroenterology and Hepatology, Erasmus University Medical Center Rotterdam, Rotterdam, the Netherlands.
Background: The impact of prophylactic medication following ileocecal resection (ICR) for Crohn's disease (CD) merits further elucidation. Prophylactic medication following ileocecal resection (ICR) is recommended in patients with Crohn's disease (CD), particularly in patients at increased risk of recurrence, but the impact on long-term outcomes needs to be further elucidated.
Aim: To evaluate the effect of postoperative prophylactic medication on long-term prognosis.
Type B ankle fractures with additional medium-sized posterior fragment: mid-term functional and radiological outcome after fixation versus no fixation of the posterior fragment.
Eur J Trauma Emerg Surg
January 2025
Department of Surgery, Haaglanden Medical Center, The Hague, The Netherlands.
Purpose: Guidelines for treatment of medium-sized posterior fragments in trimalleolar fractures are scarce and show varying advice. Recent trials comparing fixation and no fixation of posterior fragments, show no difference in outcomes one year postoperatively. This study compares functional outcome and development of osteoarthritis in patients with fixation of a posterior malleolar fracture to patients without fixation of the posterior malleolus fracture.
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