The year 2012-2013 has been a fertile one in the area of FMF inquiry. Recent studies have led to further insight into the possible mechanisms whereby pyrin mutations might cause the auto-inflammatory phenotype that is characteristic of FMF. Evidence-based guidelines for diagnosis of FMF, including the role of genetic testing, have become available. Risks for colchicine resistance have been partially defined, and a randomised, controlled trial showing efficacy of an interleukin-1 antagonist for treatment of colchicine-resistant or intolerant FMF patients was reported. In this review, we summarise these and other salient findings from the recent FMF literature, and discuss their significance for the clinician.
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Cureus
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 PDFCell Death Discov
January 2025
Institutes of physical science and information technology, Anhui University, Hefei, Anhui, 230601, China.
Cyclin-dependent kinases (CDK) 14 regulates cell cycle, tumor expansion by influencing the downstream targets of the canonical Wnt signaling pathway. However, the function of CDK14 during organ development and regeneration has not been investigated in genetically-modified animals. Here, we found that genetic ablation of Cdk14 influenced pulmonary vascular endothelial cells and alveolar epithelial cells during mice embryonic development as well as repair of lung after bleomycin or lipopolysaccharide induced injury.
View Article and Find Full Text PDFUltrasound Obstet Gynecol
January 2025
Discipline of Obstetrics, Gynaecology and Neonatology, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
Objective: To assess the performance of the Fetal Medicine Foundation (FMF) first-trimester competing-risks screening model for small-for-gestational-age (SGA) fetuses requiring delivery at < 37 weeks' gestation, in a large cohort of women receiving maternity care in Australia.
Methods: This was a retrospective analysis of prospectively collected data from a cohort of women attending one of two private multicenter fetal medicine practices for first-trimester screening for preterm pre-eclampsia (PE), defined as PE requiring delivery before 37 weeks' gestation. Risk for preterm SGA, defined as SGA requiring delivery before 37 weeks, was calculated but was not disclosed to the patient or referring physician.
Ultrasound Obstet Gynecol
January 2025
Department of Obstetrics and Gynaecology, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, SAR, China.
Objectives: To compare the maternal hemodynamic profile at 12 + 0 to 15 + 6 weeks' gestation in women who subsequently developed pre-eclampsia (PE) and those who did not, and to assess the screening performance of maternal hemodynamic parameters for PE in combination with the Fetal Medicine Foundation (FMF) triple test, including maternal factors (MF), mean arterial pressure (MAP), uterine artery pulsatility index and placental growth factor.
Methods: This was a prospective case-control study involving Chinese women with a singleton pregnancy who underwent preterm PE screening at 11 + 0 to 13 + 6 weeks' gestation using the FMF triple test, between February 2020 and February 2023. Women identified as being at high risk (≥ 1:100) for preterm PE by the FMF triple test were matched 1:1 with women identified as low risk (< 1:100) for maternal age ± 3 years, maternal weight ± 5 kg and date of screening ± 14 days.
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