A 24-year-old woman was referred to our hospital with joint pain, fever, abdominal pain, and diarrhea. A colonoscopy revealed longitudinal ulcers with a cobblestone appearance throughout the entire colon, suggestive of Crohn's disease. However, treatment with 5-aminosalicylic acid, azathioprine, and infliximab failed to achieve clinical remission. A colonoscopy 5 months later revealed a diffusely spreading granular mucosa without visible vasculature, compatible with active ulcerative colitis. Based on these serial changes in colonic lesions, we tested the patient for gene mutations and found variants E148Q and L110P in exon 2. Administration of colchicine resulted in complete clinical remission. Our experience suggests that drastic changes in the features of colonic inflammation may be a clue to the diagnosis of enterocolitis associated with familial Mediterranean fever.
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http://dx.doi.org/10.1002/deo2.70013 | DOI Listing |
Cureus
December 2024
Internal Medicine and Family Medicine, Larkin Community Hospital Palm Springs Campus, Miami, USA.
The purpose of this review is to explore the relationship between weight loss (WL), specifically reductions in body mass index (BMI), and increases in testosterone levels. Obesity and excess body fat are linked to reduced testosterone levels, which can lead to metabolic dysfunctions, reduced libido, and diminished muscle mass. To attain this purpose, this review will summarize current evidence on how weight reduction interventions, including dietary changes, exercise, and bariatric surgery, affect testosterone production in overweight and obese individuals.
View Article and Find Full Text PDFCureus
December 2024
Department of Obstetrics and Gynecology, Shiga University of Medical Science, Ostu, JPN.
Familial Mediterranean fever (FMF) is an autoinflammatory disease characterized by periodic fever, serositis, and arthritis. In women, FMF attacks can sometimes be triggered by the menstrual cycle. Once diagnosed, prophylactic treatment with colchicine is generally recommended.
View Article and Find Full Text PDFInt J Pediatr Otorhinolaryngol
January 2025
Otorhinolaryngology Department, Faculty of Medicine, Menoufia University, Menoufia, Egypt; Medicine and Surgery Program, Menoufia National University, Menoufia, Egypt. Electronic address:
Purpose: Familial Mediterranean fever (FMF) is the most prevalent genetic autoinflammatory disease worldwide. There are several novel advancements in pathophysiology, genetic testing, diagnosis, comorbidities, disease-related damage, and treatment strategies. This study aimed to assess the effect of tonsillectomy on FMF disease severity and activity.
View Article and Find Full Text PDFObjective: The aim of this study was to evaluate and validate the accuracy and performance characteristics of administrative codes in diagnosing autoinflammatory syndromes (AISs).
Methods: We identified potential AIS patients from the electronic medical records at the University of Iowa Hospital and Clinics and the Stead Family Children's Hospital using a screening filter based on the 10th edition of the International Classification of Diseases (ICD-10) codes and interleukin-1 antagonists. Diagnostic criteria for adult-onset Still disease, systemic juvenile idiopathic arthritis, Behçet disease (BD), familial Mediterranean fever (FMF), cryopyrin-associated periodic syndrome (CAPS), and SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndrome and chronic nonbacterial osteomyelitis (SAPHO-CNO) were reviewed for each patient.
Stem Cells
January 2025
Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford OX13QX, UK.
The large majority of Alzheimer's disease (AD) cases are sporadic with unknown genetic causes. In contrast, only a small percentage of AD cases are familial, with known genetic causes. Paradoxically, there are only few validated mouse models of sporadic AD but many of familial AD.
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