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familial Mediterranean fever

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https://www.readbyqxmd.com/read/29166502/outcomes-of-long-term-treatments-of-type-i-hereditary-angioedema-in-a-turkish-family
#1
Gulsen Akoglu, Belgin Kesim, Gokhan Yildiz, Ahmet Metin
BACKGROUND: Hereditary angioedema is a rare autosomal dominantly inherited immunodeficiency disorder characterized by potentially life-threatening angioedema attacks. OBJECTIVE: We aimed to investigate the clinical and genetic features of a family with angioedema attacks. METHODS: The medical history, clinical features and C1-INH gene mutation of a Turkish family were investigated and outcomes of long-term treatments were described. RESULTS: Five members had experienced recurrent swellings on the face and extremities triggered by trauma...
September 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/29164000/late-ventricular-potentials-in-familial-mediterranean-fever-with-and-without-aa-amyloidosis
#2
Udi Nussinovitch, Avi Livneh
Objective: Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by episodic and chronic inflammation that may lead to both accelerated coronary atherosclerosis and cardiac AA amyloidosis. We hypothesized that late ventricular potentials (LPs), an established electrocardiographic susceptibility marker of ventricular arrhythmias, will be more common in FMF than in the adjusted normal population due to these two types of inflammation-associated cardiac effects...
September 2017: European Journal of Rheumatology
https://www.readbyqxmd.com/read/29151129/one-novel-and-two-uncommon-mefv-mutations-in-japanese-patients-with-familial-mediterranean-fever-a-clinicogenetic-study
#3
Dai Kishida, Masahide Yazaki, Akinori Nakamura, Fumio Nomura, Takeshi Kondo, Takanori Uehara, Masatomi Ikusaka, Akira Ohya, Norihiko Watanabe, Ryuta Endo, Satoshi Kawaai, Yasuhiro Shimojima, Yoshiki Sekijima
Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by mutations in the MEFV gene and characterized by recurrent episodes of fever and polyserositis. To date, over 317 MEFV mutations have been reported, only nine of which account for almost all Japanese patients with FMF. Therefore, the prevalence of rare MEFV variants and their clinical characteristics remains unclear. This study identified MEFV mutations previously unreported in the Japanese population and described their clinical features...
November 18, 2017: Rheumatology International
https://www.readbyqxmd.com/read/29148417/recurrent-pleural-effusion-is-an-important-diagnostic-clue-to-distinguish-familial-mediterranean-fever-from-beh%C3%A3-et-s-disease
#4
Fumihiro Yamaguchi, Miku Tajika, Daisuke Inoue, Yusuke Shikama, Dai Kishida, Akinori Nakamura
No abstract text is available yet for this article.
October 31, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29148415/exacerbation-of-beh%C3%A3-et-s-syndrome-and-familial-mediterranean-fever-with-menstruation
#5
Gul Guzelant, Yesim Ozguler, Sinem Nihal Esatoglu, Guzin Karatemiz, Huri Ozdogan, Sebahattin Yurdakul, Hasan Yazici, Emire Seyahi
OBECTIVES: Menstruation triggers several conditions such as migraine, recurrent aphthous stomatitis and acne vulgaris in healthy individuals. There is evidence that Behçet's syndrome (BS) and familial Mediterranean fever (FMF) may exacerbate during menstruation. The aim is to assess whether BS and FMF patients experience menstrual flares. METHODS: Females of reproductive age with BS and FMF seen consecutively at the outpatient clinic of Cerrahpasa Medical Faculty at Istanbul, as well as apparently healthy hospital workers were studied using a standardised questionnaire...
October 24, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29148036/function-and-mechanism-of-the-pyrin-inflammasome
#6
REVIEW
Rosalie Heilig, Petr Broz
Pyrin, encoded by the MEFV gene, is an intracellular pattern recognition receptor that assembles inflammasome complexes in response to pathogen infections. Mutations in the MEFV gene have been linked to autoinflammatory diseases such as Familial Mediterranean Fever (FMF) or pyrin-associated autoinflammation with neutrophilic dermatosis (PAAND). Recent insights have now revealed how pyrin is activated during infection, providing a molecular basis for the understanding of such disease-causing mutations in pyrin...
November 16, 2017: European Journal of Immunology
https://www.readbyqxmd.com/read/29143127/decreased-serum-vitamin-b12-and-vitamin-d-levels-affect-sleep-quality-in-children-with-familial-mediterranean-fever
#7
Rabia Miray Kisla Ekinci, Sibel Balci, Mahir Serbes, Dilek Dogruel, Derya Ufuk Altintas, Mustafa Yilmaz
Familial Mediterranean fever is an autoinflammatory disorder characterized by recurrent fever and serositis. We aimed to describe serum vitamin B12 and vitamin D levels and their correlation with self-reported sleep quality of pediatric FMF patients. Sixty-three children with FMF were enrolled to the study. Information on sleep quality was obtained using self-administration of Pittsburg Sleep Quality Index (PSQI). The patients were divided into subgroups depending on vitamin D serum concentrations: ≥ 20 and < 20 ng/ml...
November 15, 2017: Rheumatology International
https://www.readbyqxmd.com/read/29138905/fatigue-in-familial-mediterranean-fever-and-its-relations-with-other-clinical-parameters
#8
Mehmet Tuncay Duruoz, Cagri Unal, Duygu Karali Bingul, Firat Ulutatar
Fatigue is a common problem in patients with rheumatic disease. It may cause disability and poor quality of life. The aim of this study is to investigate fatigue in FMF patients as a disabling symptom and its associations with clinical and demographic variables. FMF patients were recruited into the study according to FMF Tel Hashomer criteria. Control group is composed of healthy individuals. Demographic and clinical features of the patients including PRAS scores were noted. Visual analogue score of pain (VAS-pain) and VAS-fatigue were used as clinical parameters...
November 14, 2017: Rheumatology International
https://www.readbyqxmd.com/read/29129325/protracted-febrile-myalgia-syndrome-treated-with-pulse-of-corticosteroids
#9
Eran Rom, Gil Amarilyo, Yoel Levinski, Efraim Bilavsky, Ori Goldberg, Jacob Amir, Liora Harel
OBJECTIVE: This study describes our 5-year experience treating protracted febrile myalgia syndrome (PFMS) with pulsed doses of corticosteroids. METHODS: Eight patients with PFMS who received pulse corticosteroid therapy were identified from the electronic database of a tertiary pediatric medical center (2011-2016). Their clinical and laboratory data were collected. Differences in continuous variables between hospital admission and discharge were analyzed using Wilcoxon's matched pairs test...
October 12, 2017: Seminars in Arthritis and Rheumatism
https://www.readbyqxmd.com/read/29119082/cardiac-manifestations-of-familial-mediterranean-fever
#10
REVIEW
Ahmad Alsarah, Osama Alsara, Heather S Laird-Fick
Familial Mediterranean fever (FMF) is autoinflammatory disorder characterized by sporadic attacks of fever, peritonitis, pleuritis, and arthritis. It is mainly seen in patients from Mediterranean origins, but it is now reported more frequently in Europe and North America due to immigration. To analyze the data on the cardiovascular manifestations in FMF patients, we searched PubMed using the terms "Familial Mediterranean Fever" or "FMF" in combination with other key words including "cardiovascular diseases" "pericardial diseases" "atherosclerosis" "coronary artery diseases" "cardiomyopathy" "pulmonary hypertension" or "valvular diseases...
October 2017: Avicenna Journal of Medicine
https://www.readbyqxmd.com/read/29108670/autophagy-dysfunction-in-autoinflammatory-diseases
#11
REVIEW
Yichao Hua, Min Shen, Christine McDonald, Qingping Yao
Autoinflammatory diseases (AUIDs) are a genetically heterogeneous group of rheumatic diseases characterized by episodic inflammation linked with dysregulated innate immune responses. In this review, we summarize the molecular mechanisms altered by disease-associated variants in several AUIDs, including NOD2-associated diseases, TNF receptor-associated periodic syndrome (TRAPS), familial Mediterranean fever (FMF) and hyperimmunoglobulinemia D and periodic fever syndrome (HIDS), and highlight the roles dysregulated autophagy plays in disease pathogenesis...
November 3, 2017: Journal of Autoimmunity
https://www.readbyqxmd.com/read/29101676/long-term-follow-up-of-paediatric-mefv-carriers
#12
Balahan Makay, Nesrin Gülez
Although familial Mediterranean fever (FMF) is inherited autosomal recessively, some heterozygotes may express disease phenotype and require therapy. To date, there is no study in the literature about how to follow-up Mediterranean fever (MEFV) heterozygotes who do not fulfil FMF criteria in the paediatric age group. This study aims to share a single-centre experience of the long-term clinical and laboratory follow-up of paediatric MEFV carriers. We reviewed the charts of 69 children who were heterozygous for MEFV variants...
November 3, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/29094181/cardiovascular-disease-in-patients-with-autoinflammatory-syndromes
#13
REVIEW
Rainer Hintenberger, Agnes Falkinger, Kathrin Danninger, Herwig Pieringer
Autoinflammatory syndromes (AIS) are characterized by recurring events of inflammation, leading to a variety of organ manifestations and fever attacks. A subgroup of AIS is commonly referred to as hereditary periodic fever syndromes (HPFS). There is substantial evidence that autoimmune diseases such as rheumatoid arthritis and systemic lupus erythematosus are strongly associated with cardiovascular morbidity and mortality. The link between AIS and cardiovascular disease is not that clear, even if the concept of continuous inflammation as a risk factor for cardiovascular disease is widely accepted...
November 1, 2017: Rheumatology International
https://www.readbyqxmd.com/read/29051974/cardiac-disease-in-familial-mediterranean-fever
#14
REVIEW
Eren Erken, Ertugrul Erken
Familial Mediterranean fever (FMF) is an autoinflammatory disease manifested by inflammatory attacks of peritonitis, pleuritis, pericarditis accompanied by fever and arthritis. Mutations of MEFV gene results in pyrin dysfunction, which causes uncontrolled interleukin-1 beta production and triggers the inflammatory attacks. Inflammation persists even during attack-free periods in one-third of the FMF patients. Findings of elevated proinflammatory cytokine patterns during remission as well as inflammatory attacks indicate the continuous subclinical disease activity and inflammation...
October 20, 2017: Rheumatology International
https://www.readbyqxmd.com/read/29046164/colchicine-a-review-about-chemical-structure-and-clinical-using
#15
Hourieh Alkadi, Mohamad Jowad Khubeiz
For many years, colchicine has been used for therapeutic purposes and has been given considerable attention because of its association with tubulin and inhibition of small tubular polymerization. Colchicine is an alkaloids extracted from the colchicum autumnale plant, and it contains a molecular formula C22H25NO6, and it consists of three rings. Many studies have concerned with structural changes, in order to increase their pharmacological effectiveness and to reduce the side effects of toxicity arising from it...
October 17, 2017: Infectious Disorders Drug Targets
https://www.readbyqxmd.com/read/29040788/familial-mediterranean-fever-mutations-are-hypermorphic-mutations-that-specifically-decrease-the-activation-threshold-of-the-pyrin-inflammasome
#16
Yvan Jamilloux, Lucie Lefeuvre, Flora Magnotti, Amandine Martin, Sarah Benezech, Omran Allatif, Mathilde Penel-Page, Véronique Hentgen, Pascal Sève, Mathieu Gerfaud-Valentin, Agnès Duquesne, Marine Desjonquères, Audrey Laurent, Vanessa Rémy-Piccolo, Rolando Cimaz, Luca Cantarini, Emilie Bourdonnay, Thierry Walzer, Bénédicte F Py, Alexandre Belot, Thomas Henry
Objectives: FMF is the most frequent autoinflammatory disease and is associated in most patients with bi-allelic MEFV mutations. MEFV encodes Pyrin, an inflammasome sensor activated following RhoGTPase inhibition. The functional consequences of MEFV mutations on the ability of Pyrin variants to act as inflammasome sensors are largely unknown. The aim of this study was to assess whether MEFV mutations affect the ability of Pyrin to detect RhoGTPase inhibition and other inflammasome stimuli...
October 12, 2017: Rheumatology
https://www.readbyqxmd.com/read/29038396/multiple-myeloma-in-a-patient-with-familial-mediterranean-fever
#17
Bahman Bashardoust, Nasrollah Maleki
Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent episodes of painful inflammation in the abdomen, chest, or joints. The coexistence of multiple myeloma (MM) and FMF is an extremely rare event. Here, we report a case of FMF with concurrent MM. A 63-year-old woman was diagnosed with FMF since 15 years earlier. She was admitted with a complaint of low back pain. Regarding the presence of back pain, anemia, hypercalcemia, and kidney failure, a diagnosis of MM was suspected...
October 2017: Iranian Journal of Kidney Diseases
https://www.readbyqxmd.com/read/29032440/vasculitis-and-vasculitis-like-manifestations-in-monogenic-autoinflammatory-syndromes
#18
REVIEW
Avinash Jain, Durga Prasanna Misra, Aman Sharma, Anupam Wakhlu, Vikas Agarwal, Vir Singh Negi
Monogenic autoinflammatory syndromes are a rare group of disorders characterized by periodic episodes of systemic inflammation of endogenous origin. Sometimes, these diseases may present with features akin to vasculitis. We conducted a literature review on such vasculitic manifestations in described monogenic autoinflammatory syndromes utilizing the Online Mendelian Inheritance in Man (OMIM), Medline, and Scopus databases. Our search identified that Familial Mediterranean fever (FMF) can manifest with features of either small, medium, large, or variable-vessel vasculitis...
October 14, 2017: Rheumatology International
https://www.readbyqxmd.com/read/29031862/pfapa-syndrome-in-a-population-with-endemic-familial-mediterranean-fever
#19
Esra Pehlivan, Amra Adrovic, Sezgin Sahin, Kenan Barut, Ovgu Kul Cınar, Ozgur Kasapcopur
We reviewed the medical records of patients with periodic fever, aphthosis, pharyngitis, and adenitis (PFAPA) to investigate the clinical course, treatment response, and association with MEFV gene mutation. Familial Mediterranean fever should be considered in patients with PFAPA who do not respond to adenotonsillectomy.
October 11, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/29027576/neonatal-ulcerative-colitis-associated-with-familial-mediterranean-fever-a-case-report
#20
Elif Sag, Ferhat Demir, Mustafa Emre Ercin, Mukaddes Kalyoncu, Murat Cakir
Neonatal inflammatory bowel disease (IBD) is a subclass of very early onset IBD that includes children younger than 1 month. It is characterized by more colonic involvement and monogenetic etiology, resistance to classical anti-inflammatory/immunomodulatory treatments and associated with colitis in first-degree family members. Herein we report a 3 month-old girl who was admitted with bloody diarrhea since 10 days of age. Her symptoms persist despite diet elimination. She was diagnosed with neonatal ulcerative colitis (UC) based on clinical, laboratory and histopathological examination...
October 13, 2017: Rheumatology International
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