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http://dx.doi.org/10.1093/pch/19.5.233-a | DOI Listing |
J Med Case Rep
January 2025
Department of Orthopaedics, Sahlgrenska University Hospital, Gothenburg, Sweden.
Background: Congenital insensitivity to pain with anhidrosis is a rare but devastating hereditary disease. Congenital insensitivity to pain with anhidrosis is caused by a mutation in the neurotrophic receptor tyrosine kinase 1 gene (NRTK1). The condition is characterized by multiple injuries, recurrent infections, and mental retardation.
View Article and Find Full Text PDFOrphanet J Rare Dis
January 2025
Department of Cardiac Physiology, National Cerebral and Cardiovascular Center Research Institute, 6-1 Kishibe-Shimmachi, Suita, Osaka, 564-8565, Japan.
Background: Transient receptor potential cation channel subfamily V member 2 (TRPV2) functions as a stretch-sensitive calcium channel, with overexpression in the sarcolemma of skeletal and cardiac myocytes leading to detrimental calcium influx and triggering muscle degeneration. In our previous pilot study, we showed that tranilast, a TRPV2 inhibitor, reduced brain natriuretic peptide levels in two patients with muscular dystrophy and advanced heart failure. Building on this, we performed a single-arm, open-label, multicenter study herein to evaluate the safety and efficacy of tranilast in the treatment of advanced heart failure in patients with muscular dystrophy.
View Article and Find Full Text PDFBMC Infect Dis
January 2025
Center of Infectious Disease, West China Hospital, Sichuan University, Chengdu, China.
Background: Chronic active Epstein-Barr virus (CAEBV) colitis is a rare disease with clinical and endoscopic manifestations very similar to those of inflammatory bowel disease (IBD). In clinical practice, it is easy to be misdiagnosed and mistreated, leading to poor clinical outcomes.
Case Presentation: We report a case of a 56-year-old Chinese woman who presented with 6 years of intermittent severe diarrhea, fever, and abdominal pain.
Int J Emerg Med
January 2025
Department of Cardiology and Internal Medicine, School of Medicine, Collegium Medicum, University of Warmia and Mazury, al. Warszawska 30, Olsztyn, 10-900, Poland.
Background: Chest pain is a common reason patients are admitted to the hospital. The most clinically significant cases are those in which the pain is due to an immediate life-threatening condition, such as acute aortic dissection (AAD). A prompt and correct diagnosis is crucial to patient survival.
View Article and Find Full Text PDFAnn Surg Oncol
January 2025
Division of Colorectal Surgery, Changzheng Hospital, Navy Medical University, Shanghai, China.
Background: Local relapse has not been eradicated even in the era of total mesorectum excision. Although various approaches have been attempted, R0 resection remains the only potentially curative treatment. PATIENT AND METHODS: A 45-year-old woman with a history of laparoscopic abdominoperineal resection was diagnosed with pelvic recurrence 7 months ago.
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