keyword
https://read.qxmd.com/read/33560083/familial-mediterranean-fever-after-cord-blood-transplantation-for-familial-hemophagocytic-lymphohistiocytosis
#21
JOURNAL ARTICLE
Keita Igarashi, Tsukasa Hori, Masaki Yamamoto, Naoki Hatakeyama, Kotoe Iesato, Akira Takebayashi, Toshitaka Kizawa, Takako Miyamae, Manabu Kawamoto, Yukihiko Kawasaki
Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disorder accompanied by periodic fever and sterile serositis. We report a 5-year-old boy with FMF, who underwent second unrelated cord blood transplantation (CBT) for recurrent familial hemophagocytic lymphohistiocytosis. Periodic attacks of fever and abdominal pain started 6 months after CBT. He was diagnosed with FMF according to the Tel-Hashomer criteria and treated successfully with colchicine. Genetic testing showed heterozygous p.E148Q mutation in the MEFV gene from both donor and recipient cells...
February 3, 2021: Journal of Pediatric Hematology/oncology
https://read.qxmd.com/read/33460325/appendectomy-history-is-associated-with-severe-disease-and-colchicine-resistance-in-adult-familial-mediterranean-fever-patients
#22
JOURNAL ARTICLE
Erdal BodakÇİ, Nazİfe Şule YaŞar Bİlge, Nuh AtaŞ, Berkan ArmaĞan, Hasan SatiŞ, Alper Sari, Reyhan Bİlİcİ Salman, GÖzde KÜbra Yardimci, Hakan BabaoĞlu, Levent KiliÇ, Mehmet Akİf ÖztÜrk, Berna GÖker, Şemİnur HaznedaroĞlu, Umut Kalyoncu, Abdurrahman Tufan, TİmuÇİn KaŞİfoĞlu
BACKGROUND/OBJECTIVE: Peritonitis attacks of Familial Mediterranean Fever (FMF) usually requires emergency medical admissions and it?s hard to distinguish a typical abdominal attack from surgical causes of acute abdomen. Therefore, history of abdominal surgery, particularly appendectomy, is very common in patients with FMF. However, history of appendectomy might also give some clues about the disease in the course of FMF in adulthood. This study was to determine whether the history of appendectomy help to anticipate disease course of FMF in adulthood...
January 18, 2021: Turkish Journal of Medical Sciences
https://read.qxmd.com/read/32920724/enthesitis-may-be-one-of-the-signs-of-severe-disease-in-familial-mediterranean-fever
#23
JOURNAL ARTICLE
Nesrin Sen, Mesut Yilmaz, Ridvan Mercan, Omur Volkan, Sibel Yilmaz-Oner, Ezgi Tukel, Mehmet Engin Tezcan
OBJECTIVE: Familial Mediterranean fever (FMF) is an auto-inflammatory disease that is also characterized with some of the common musculoskeletal features of spondyloarthritis (SpA). Enthesitis is the hallmark of SpA. Recently, it was postulated that exertional leg pain is a possible sign of lower extremity enthesitis associated with FMF severity. In this study, we have evaluated the association between the enthesitis, enthesitis score and disease severity in FMF patients. METHODS: We enrolled 238 FMF patients that fulfilled the modified Tel-Hashomer criteria...
September 12, 2020: Clinical Rheumatology
https://read.qxmd.com/read/32889548/serum-amyloid-a1-genotype-associates-with-adult-onset-familial-mediterranean-fever-in-patients-homozygous-for-mutation-m694v
#24
JOURNAL ARTICLE
Gernot Kriegshäuser, Hasmik Hayrapetyan, Stepan Atoyan, Christian Oberkanins, Tamara Sarkisian
OBJECTIVES: FMF shows considerable variability in severity and type of clinical manifestations by geographic region, which are attributed to Mediterranean fever (MEFV) gene allelic heterogeneity, additional genetic modifiers and environmental factors. Considering the severe impact of MEFV mutation M694V on the FMF phenotype, this work aimed at investigating a possible disease modifying role of the serum amyloid A1 (SAA1) genotype in a cohort of 386 Armenian FMF patients homozygous for MEFV mutation M694V...
August 21, 2020: Rheumatology
https://read.qxmd.com/read/32778893/predictors-of-persistent-inflammation-in-familial-mediterranean-fever-and-association-with-damage
#25
JOURNAL ARTICLE
Hakan Babaoglu, Berkan Armagan, Erdal Bodakci, Hasan Satis, Nuh Atas, Alper Sari, Nazife Sule Yasar Bilge, Reyhan Bilici Salman, Gozde Kubra Yardımcı, Aslihan Avanoglu Guler, Hazan Karadeniz, Levent Kilic, Mehmet Akif Ozturk, Berna Goker, Seminur Haznedaroglu, Umut Kalyoncu, Timucin Kasifoglu, Abdurrahman Tufan
OBJECTIVE: Persistent inflammation is an insidious and less studied feature of FMF. We investigated clinical determinants of persistent inflammation and its associations with individual damage items. METHODS: This is a cross-sectional analysis of 917 FMF patients, who fulfilled the Tel Hashomer criteria and had at least 6 months' follow-up. Patients were stratified based on whether they had persistent inflammation. We used logistic regression analysis to investigate independent predictors of persistent inflammation and the associated individual damage items...
August 10, 2020: Rheumatology
https://read.qxmd.com/read/32757291/are-there-any-clinical-differences-between-ankylosing-spondylitis-patients-and-familial-mediterranean-fever-patients-with-ankylosing-spondylitis
#26
JOURNAL ARTICLE
Ayten Yazici, Ozlem Ozdemir Isik, Duygu Temiz Karadag, Ayse Cefle
OBJECTIVE: Familial Mediterranean Fever (FMF) is an autoinflammatory disease that is commonly present with recurrent episodes of fever, peritonitis, pleuritis or arthritis. Enthesitis and sacroilitis can also be seen in FMF. Spondylitis is a less common manifestation of joint involvement in FMF and there are controversial publications about whether this involvement is FMF-related or coincidentally. The aim of this study was to provide a comparison between ankylosing spondylitis (AS) patients and FMF patients with AS...
January 2021: International Journal of Clinical Practice
https://read.qxmd.com/read/32573410/factors-associated-with-damage-in-patients-with-familial-mediterranean-fever
#27
JOURNAL ARTICLE
Hakan Babaoglu, Berkan Armagan, Erdal Bodakci, Hasan Satis, Nuh Atas, Alper Sari, Nazife Sule Yasar Bilge, Reyhan Bilici Salman, Gözde Kübra Yardimci, Aslihan Avanoglu Guler, Hazan Karadeniz, Levent Kilic, Mehmet Akif Ozturk, Berna Goker, Seminur Haznedaroglu, Umut Kalyoncu, Timucin Kasifoglu, Abdurrahman Tufan
OBJECTIVES: Defining predictors of damage would improve patient care. We applied damage indexes to patients with familial Mediterranean fever (FMF) and identified the predictors of damage. METHODS: This is a cross-sectional analysis of 926 FMF patients, who fulfilled the Tel-Hashomer criteria and had at least six months of follow-up. Patients were stratified according to their damage status (damage vs. no damage) defined with autoinflammatory disease damage index (ADDI) and modified ADDI (excluding musculoskeletal pain)...
September 2020: Clinical and Experimental Rheumatology
https://read.qxmd.com/read/32547265/coexisting-diseases-in-patients-with-familial-mediterranean-fever
#28
JOURNAL ARTICLE
Farhad Salehzadeh, Afsaneh Enteshari Moghaddam
Background and Aims: Familial Mediterranean fever (FMF) is a prototype of autoinflammatory disease and mainly associated with MEFV gene mutations. This single-center study as an experience represents FMF-coexisting disease in the FMF registration database. Methods: Four hundred patients who had FMF based on clinical criteria (Tel-Hashomer) and/or MEFV mutations enrolled the study. Twelve most common MEFV mutations (P369S, F479L, M680I (G/C), M680I (G/A), I692del, M694V, M694I, K695R, V726A, A744S, R761H, E148Q) were analyzed if needed by the reverse hybridization assay...
2020: Open Access Rheumatology: Research and Reviews
https://read.qxmd.com/read/32000860/assessment-of-effectiveness-of-anakinra-and-canakinumab-in-patients-with-colchicine-resistant-unresponsive-familial-mediterranean-fever
#29
JOURNAL ARTICLE
Ali Şahin, Mehmet Emin Derin, Fatih Albayrak, Burak Karakaş, Yalçın Karagöz
İNTRODUCTION: Familial Mediterranean fever (FMF) is a hereditary auto-inflammatory disease characterized by recurrent fever and serosal inflammation. Anti-interleukin-1 (Anti-IL-1) treatments are recommended in colchicine resistant and/or intolerant FMF patients. This study aims to evaluate the efficacy of anakinra and canakinumab in FMF patients that are resistant/intolareted to colchicine or complicated with amyloidosis. METHODS: Between January 2014 and March 2019, 65 patients following-up at Sivas Cumhuriyet University (Medical Faculty Rheumatology-Internal Medicine Department) who were diagnosed with FMF according to the criteria of Tel-Hashomer were included in the study...
January 30, 2020: Advances in Rheumatology
https://read.qxmd.com/read/31999206/age-of-onset-as-an-influencing-factor-for-disease-severity-in-children-with-familial-mediterranean-fever
#30
JOURNAL ARTICLE
Ayşe Tanatar, Şerife Gül Karadağ, Mustafa Çakan, Hafize Emine Sönmez, Nuray Aktay Ayaz
Objectives: To define the demographic, clinical and genetic features of familial Mediterranean fever (FMF) patients with early disease onset and to compare them with late-onset FMF patients. Methods: Patients were divided into two groups according to the age of disease onset: group 1 includes the patients who had their first attack ≤3 years of age; group 2 consisted of patients who had their first attack >3 years of age. Furthermore, we compared the proportion of patients fulfilling the three diagnostic criteria among two groups...
January 30, 2020: Modern Rheumatology
https://read.qxmd.com/read/31972733/comparison-of-pediatric-familial-mediterranean-fever-patients-carrying-only-e148q-variant-with-the-ones-carrying-homozygous-pathogenic-mutations
#31
JOURNAL ARTICLE
Ayşe Tanatar, Şerife Gül Karadağ, Hafize Emine Sönmez, Mustafa Çakan, Nuray Aktay Ayaz
OBJECTIVE: The aims of this study were to compare demographic data, clinical features, and severity scores of familial Mediterranean fever patients carrying E148Q variant with the patients having homozygous pathogenic MEFV mutations and to evaluate both of these groups for the performance of Tel-Hashomer, Livneh, and pediatric diagnostic criteria. METHODS: The demographic and clinical data of patients with familial Mediterranean fever either heterozygous or homozygous for E148Q variant (group 1) and patients with homozygous mutations (M694V, M694I, M680I, V726A) (group 2) were collected retrospectively...
January 15, 2020: Journal of Clinical Rheumatology: Practical Reports on Rheumatic & Musculoskeletal Diseases
https://read.qxmd.com/read/31941537/fmf-is-not-always-fever-from-clinical-presentation-to-treat-to-target
#32
REVIEW
Maria Cristina Maggio, Giovanni Corsello
Familial Mediterranean Fever, a monogenic autoinflammatory disease secondary to MEFV gene mutations in the chromosome 16p13, is characterized by recurrent self-limiting attacks of fever, arthritis, aphthous changes in lips and/or oral mucosa, erythema, serositis. It is caused by dysregulation of the inflammasome, a complex intracellular multiprotein structure, commanding the overproduction of interleukin 1. Familial Mediterranean Fever can be associated with other multifactorial autoinflammatory diseases, as vasculitis and Behçet disease...
January 15, 2020: Italian Journal of Pediatrics
https://read.qxmd.com/read/31846428/high-prolidase-levels-in-patients-with-familial-mediterranean-fever-fmf
#33
JOURNAL ARTICLE
Meliha Bayram, Mehmet Emin Derin, Halef Okan Doğan, Gökmen Asan, Mehtap Şahin, Ali Şahin
INTRODUCTION: Familial Mediterranean Fever (FMF) is an autoinflammatory disease. Prolidase is a specific imidodipeptidase that plays a role in collagen degradation, and an important role in inflammation and wound healing. Hypoxia-inducible factor-1α (HIF-1) is an important protein in the regulation of immunological response, hemostasis, vascularization. The aim of the study was to compare serum prolidase and HIF-1α levels in patients with FMF in attack-free period and healthy control group...
March 1, 2020: Romanian Journal of Internal Medicine
https://read.qxmd.com/read/31804137/prevalence-of-mefv-gene-mutations-in-a-large-cohort-of-patients-with-suspected-familial-mediterranean-fever-in-central-anatolia
#34
JOURNAL ARTICLE
Malik Ejder Yildirim, Hande Kucuk Kurtulgan, Ozturk Ozdemir, Hasan Kilicgun, Didem S Aydemir, Burak Baser, Ilhan Sezgin
BACKGROUND: Familial Mediterranean fever (FMF), an autosomal recessive, autoinflammatory disease that is common in Arabs, Jews, Armenians and Turks, is caused by mutations in the MEFV gene, which encodes a protein called pyrin. The disease is characterised by recurrent fever, peritonitis, pleuritis, abdominal pain and arthralgia. OBJECTIVE: Determine the distributions of MEFV mutations and their relationship with clinical manifestations. DESIGN: Retrospective, descriptive...
November 2019: Annals of Saudi Medicine
https://read.qxmd.com/read/31803701/familial-mediterranean-fever-in-chinese-children-a-case-series
#35
JOURNAL ARTICLE
Ji Li, Wei Wang, Linqing Zhong, Junyan Pan, Zhongxun Yu, Shan Jian, Changyan Wang, Mingsheng Ma, Xiaoyan Tang, Lin Wang, Meiying Quan, Yu Zhang, Juan Xiao, Hongmei Song
Background: Familial Mediterranean fever (FMF) is an inherited auto-inflammatory disorder and is extremely rare in Chinese. This study aimed to investigate the demographic, clinical, and genetic features of FMF in a series of Chinese pediatric patients. Methods: This was a retrospective case series of children with recurrent febrile or inflammatory episodes and referred to the Peking Union Medical College Hospital between 06/2013 and 06/2018. All suspected patients were genetically diagnosed and met the Tel-Hashomer criteria for FMF...
2019: Frontiers in Pediatrics
https://read.qxmd.com/read/31693653/twenty-year-experience-of-a-single-referral-center-on-pediatric-familial-mediterranean-fever-what-has-changed-over-the-last-decade
#36
JOURNAL ARTICLE
Rabia Miray Kisla Ekinci, Sibel Balci, Dilek Dogruel, Derya Ufuk Altintas, Mustafa Yilmaz
BACKGROUND/OBJECTIVE: Familial Mediterranean fever (FMF) is the most common autoinflammatory disease and is characterized by recurrent fever and serositis episodes. We aimed to share our 20-year FMF experience, clarify a phenotype-genotype correlation, and compare the characteristics and outcomes of pediatric FMF patients over the last 2 decades in this study. METHODS: This medical record review study included 714 pediatric FMF patients (340 females, 374 males), diagnosed by Tel Hashomer diagnostic criteria between January 2009 and January 2019 and followed up in our department...
October 29, 2019: Journal of Clinical Rheumatology: Practical Reports on Rheumatic & Musculoskeletal Diseases
https://read.qxmd.com/read/31646357/performance-of-tel-hashomer-livneh-pediatric-and-new-eurofever-printo-classification-criteria-for-familial-mediterranean-fever-in-a-referral-center
#37
JOURNAL ARTICLE
Ayşe Tanatar, Hafize Emine Sönmez, Şerife Gül Karadağ, Figen Çakmak, Mustafa Çakan, Ferhat Demir, Betül Sözeri, Nuray Aktay Ayaz
Until now, the diagnosis of familial Mediterranean fever (FMF) was based on validated subsets of clinical criteria, but recently new Eurofever/PRINTO classification criteria concerning genetic analyses were proposed. The study aimed to compare the performances of three validated diagnostic criteria (Tel-Hashomer, Livneh, pediatric criteria) and new Eurofever/PRINTO classification criteria. The medical charts of study and control groups were reviewed retrospectively. Patients were evaluated for three diagnostic criteria and new Eurofever/PRINTO classification criteria...
October 23, 2019: Rheumatology International
https://read.qxmd.com/read/31603074/the-influence-of-genotype-on-disease-severity-and-concomitant-diseases-in-familial-mediterranean-fever-patients
#38
JOURNAL ARTICLE
Abdulvahap Aktaş, Mursel Karadavut, Döndü Üskudar Cansu, Cengiz Korkmaz
OBJECTIVES: To evaluate differences between the patients with familial Mediterranean fever (FMF) with homozygous (Hom), heterozygous (Het) and compound heterozygous (cHet) MEFV mutations in terms of clinical features and severity of the disease, as well as frequency of concomitant disorders, without focusing on Exon 10 mutations. METHODS: The patients with FMF were diagnosed using the Tel-Hashomer diagnostic criteria. The presence of MEFV mutations was investigated in exons 2,3,5 and 10 by multiplex-PCR reverse hybridisation method...
November 2019: Clinical and Experimental Rheumatology
https://read.qxmd.com/read/31502094/familial-mediterranean-fever-associated-infertility-and-underlying-factors
#39
JOURNAL ARTICLE
Nuh Atas, Berkan Armagan, Erdal Bodakci, Hasan Satis, Alper Sari, Nazife Sule Yasar Bilge, Reyhan Bilici Salman, Gozde Kubra Yardımcı, Hakan Babaoglu, Levent Kilic, Mehmet Akif Ozturk, Berna Goker, Seminur Haznedaroglu, Timucin Kasifoglu, Umut Kalyoncu, Abdurrahman Tufan
INTRODUCTION/OBJECTIVES: Familial Mediterranean fever (FMF) is characterized by recurrent attacks of fever, serositis, and arthritis, but some patients may experience long-term complications of disease such as infertility/subfertility. The published data about FMF-associated infertility is still limited. The aim of this study is to investigate the frequency and to determine potential factors for FMF-associated infertility/subfertility. METHODS: We enrolled 971 adult patients with FMF...
January 2020: Clinical Rheumatology
https://read.qxmd.com/read/31497767/effects-of-familial-mediterranean-fever-on-cardiac-functions-in-adults-a-cross-sectional-study-based-on-speckle-tracking-echocardiography
#40
JOURNAL ARTICLE
Hilal Erken Pamukcu, Mehmet Doğan, Cem Özişler, Hamza Sunman, Melih Pamukcu, Lale Dinç Asarcikli
Objectives: This study aims to evaluate the right ventricular (RV) and left ventricular (LV) systolic and diastolic functions with speckle tracking echocardiography in addition to routine echocardiographic measurements in adult familial Mediterranean fever (FMF) patients in order to detect cardiac functions. Patients and methods: Sixty FMF patients (23 males, 37 females; median age 35 years; interquartile range, 26 to 38 years) and 20 healthy subjects (10 males, 10 females; median age 31 years; interquartile range, 25 to 35 years) were included in the study...
June 2019: Archives of Rheumatology
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