keyword
MENU ▼
Read by QxMD icon Read
search

familial Mediterranean fever

keyword
https://www.readbyqxmd.com/read/28539550/a-retrospective-analysis-of-7-cases-of-familial-mediterranean-fever
#1
Chie Ogita, Kiyoshi Matsui, Dai Kisida, Masahide Yazaki, Akinori Nakamura, Satosi Kaku, Hidehiko Makino, Rei Tadokoro, Kouta Azuma, Kazuyuki Tsuboi, Mei Tani, Masao Tamura, Takahiro Yoshikawa, Mai Morimoto, Aki Nishioka, Masahiro Sekiguchi, Naoto Azuma, Masayasu Kitano, Shinichiro Tsunoda, Hideaki Sawai, Hajime Sano
BACKGROUND: Familial mediterranean fever (FMF) is a single inherited autoinflammatory disease characterized by periodic fever with relatively short duration of 1 to 3 days and sterile serositis. Although the prevalence rate is highest in the Mediterranean coastal area, a large number of cases have been reported recently by genetic analysis by identification of MEFV (Mediterranean fever) which is responsible gene in Japan too. In outpatient department of rheumatology, diagnosis and treatment of FMF is performed in cases where fever and abdominal pain attack are repeated for a short period of time...
2017: Nihon Rinshō Men'eki Gakkai Kaishi, Japanese Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28499757/hidradenitis-suppurativa-is-associated-with-familial-mediterranean-fever-a-population-based-study
#2
Emmilia Hodak, Lihi Atzmony, Lev Pavlovsky, Doron Comaneshter, Arnon D Cohen
No abstract text is available yet for this article.
May 9, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28497352/monogenic-periodic-fever-syndromes-treatment-options-for-the-pediatric-patient
#3
REVIEW
Seza Ozen, Selcan Demir
Autoinflammatory diseases are disorders of the innate immune system characterized by uncontrolled inflammation. The most commonly encountered autoinflammatory diseases are the hereditary periodic fever syndromes, which present with fever and other features of the skin, serosal membranes, and musculoskeletal system. The main inherited (monogenic) periodic fever syndromes are familial Mediterranean fever (FMF), cryopyrin-associated periodic syndrome (CAPS), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), and hyperimmunoglobulin D syndrome (HIDS)/mevalonate kinase deficiency (MKD)...
May 11, 2017: Paediatric Drugs
https://www.readbyqxmd.com/read/28483595/mefv-mutations-and-their-relation-to-major-clinical-symptoms-of-familial-mediterranean-fever
#4
Nilgun Cekin, Murat Eser Akyurek, Ergun Pinarbasi, Filiz Ozen
Familial Mediterranean fever is a common hereditary disease in Turkey. To date, different mutational spectrum of MEFV gene was observed in studies carried out in different regions of Turkey but in most of these studies association of clinical symptoms of FMF to mutant genotypes have not been investigated in details. Here we report the MEFV gene variations in exons 2, 3, 5 and 10 and their relations to major clinical symptoms of FMF in 514 unrelated (245 males and 269 females) Turkish patients. MEFV mutations were found in 45% (n=230) of patients and 55% (n=284) of patients did not have any mutations...
May 5, 2017: Gene
https://www.readbyqxmd.com/read/28482392/-three-cases-with-familial-mediterranean-fever-misdiagnosed-as-juvenile-idiopathic-arthritis
#5
J Li, Y Zhang, W Wang, L Q Zhong, H M Song
Objective: To explore the key points of diagnosis and treatment of familial Mediterranean fever(FMF). Method: The clinical data of 3 cases with FMF misdiagnosed as Juvenile idiopathic arthritis(JIA)seen from January 2014 to June 2016 in Peking Union Medical College Hospital were retrospectively collected. The clinical manifestations, gene mutation characteristics, treatment and prognosis were also evaluated. Result: Two cases were male and 1 was female. The mean age of onset was 17 months (3 months to 36 months), while the average age of diagnosis was 6 years and 8 months (24 months to 11 years)...
May 4, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28470578/acute-hemorrhagic-edema-of-infancy-the-experience-of-a-large-tertiary-pediatric-center-in-israel
#6
Limor Parker, Keren Shahar-Nissan, Liat Ashkenazi-Hoffnung, Liora Harel, Jacob Amir, Omer Trivizki, Efraim Bilavsky
BACKGROUND: Acute hemorrhagic edema of infancy (AHEI) is a rare leukocytoclastic vasculitis of the small vessels occurring at a young age and considered as a benign self-limited disease. Due to its low prevalence, there are limited data on the presentation and complications of this disease. METHODS: All computerized files of children who were hospitalized at a tertiary pediatric center due to AHEI over a 10 year period were reviewed. Clinical, laboratory and histopathological data were collected...
April 29, 2017: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/28466819/familial-mediterranean-fever-observations-from-a-pilot-gene-expression-microarray-analysis-study
#7
R Mahfouz, K Kreidieh, R A Khalek, S Yazbek
Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disease affecting people of Mediterranean ancestry. The disease is caused by mutations in the MEFV gene located on chromosome 16p13.3. The aim of this pilot study was to assess global gene expression and identify genes and pathways involved in FMF that could be downstream to MEFV mutations or could be novel involved. EDTA blood samples were collected from 14 patients showing FMF-like symptoms and age-matched to 7 controls showing healthy conditions...
March 31, 2017: Cellular and Molecular Biology
https://www.readbyqxmd.com/read/28465037/is-there-any-difference-regarding-atopy-between-children-with-familial-mediterranean-fever-and-healthy-controls
#8
Ç Aydoğmuş, N A Ayaz, M Çakan, F Çipe, N Topal, Ö B Öner, G Keskindemirci, A Akçay
INTRODUCTION: There are only a few studies regarding the prevalence of atopy in Familial Mediterranean fever (FMF) patients, and their results are conflicting. METHODS: In this study children with the diagnosis of FMF were evaluated for the presence of atopy by comparing with controls. One hundred and eighteen children diagnosed as FMF and 50 healthy age and sex matched controls were enrolled. They were evaluated for the presence of rhinitis, atopic dermatitis, urticaria and asthma...
April 29, 2017: Allergologia et Immunopathologia
https://www.readbyqxmd.com/read/28461821/assessment-of-neutrophil-to-lymphocyte-ratio-and-mean-platelet-volume-in-pediatric-familial-mediterranean-fever-patients
#9
Ozge Basaran, Nermin Uncu, Banu Acar Celikel, Fatma Aydın, Nilgun Cakar
BACKGROUND: Blood neutrophil to lymphocyte ratio (NLR) and mean platelet volume (MPV) both have been used as a simple marker of inflammation in many disorders. Here, we aimed to investigate the relationship between NLR, MPV, and familial Mediterranean fever (FMF). MATERIALS AND METHODS: In this retrospective study, the files of FMF patients in pediatric rheumatology outpatient clinic were reviewed. There were 160 participants (68.4%) in the FMF patient group and 74 participants (31...
2017: Journal of Research in Medical Sciences: the Official Journal of Isfahan University of Medical Sciences
https://www.readbyqxmd.com/read/28457821/a-retrospective-study-of-the-characterization-of-rickettsia-species-in-ticks-collected-from-humans
#10
Valeria Blanda, Alessandra Torina, Francesco La Russa, Rosalia D'Agostino, Kety Randazzo, Salvatore Scimeca, Elisabetta Giudice, Santo Caracappa, Antonio Cascio, José de la Fuente
Rickettsiae (family Rickettsiaceae, order Rickettsiales) are obligate intracellular bacteria transmitted by arthropod vectors. Several Rickettsia species causing vector-borne rickettsioses belong to the spotted fever group (SFG). Traditionally, Rickettsia conorii has been considered as the main etiologic agent of Mediterranean spotted fever. However, the molecular characterization of rickettsiae allowed identifying other species involved in spotted fever in the Mediterranean region. In this study, 42 ticks collected from humans were subjected to morphological identification and molecular characterization of Rickettsia species potentially involved in human rickettsiosis in Sicily...
April 12, 2017: Ticks and Tick-borne Diseases
https://www.readbyqxmd.com/read/28442396/fas-and-fas-ligand-gene-polymorphisms-in-turkish-patients-with-familial-mediterranean-fever
#11
Emine Gulce Ozel, Gulay Gulbol Duran, Muhammet Murat Çelik, Nizami Duran, Ramazan Gunesacar
Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disorder characterized by recurrent fever, serositis, abdominal pain, arthritis, arthralgia and erysipelas like erythema. Fas and Fas ligand molecules play a central role in the apoptosis signaling of various cell types including neutrophils. Neutrophils are the major cell population involved in acute inflammation in patients with FMF and the role of Fas and Fas ligand molecules in this cells of FMF patients may be crucial. Therefore, in the present study, we aimed to investigate whether the Fas cell surface receptor gene (FAS); NM_000043...
April 22, 2017: Gene
https://www.readbyqxmd.com/read/28425232/effect-of-familial-mediterranean-fever-on-sexual-and-reproductive-health-in-women
#12
Görkem Karakaş Uğurlu, Mustafa Uğurlu, Şükran Erten, Serdar Süleyman Can, Semra Ulusoy Kaymak, Ali Çayköylü
BACKGROUND/AIM: The aim of this study was to investigate the relationship between familial Mediterranean fever and female sexual dysfunction and premenstrual syndrome. MATERIALS AND METHODS: This study included 36 patients with familial Mediterranean fever and 33 healthy volunteers. Familial Mediterranean fever was diagnosed according to the Tel Hashomer criteria and familial Mediterranean fever mutations were identified in all of the patients. The patients and healthy volunteers were compared in terms of anxiety, depression, sexual dysfunction, and premenstrual syndrome, and a model was created that describes the relationships among these variables...
April 18, 2017: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/28413100/colchicine-resistance-and-intolerance-in-familial-mediterranean-fever-definition-causes-and-alternative-treatments
#13
REVIEW
Seza Ozen, Isabelle Kone-Paut, Ahmet Gül
BACKGROUND: Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory syndrome characterized by recurrent serositis or arthritis attacks and, in some patients, chronic subclinical inflammation that predisposes to secondary amyloidosis. Colchicine is the gold standard of treatment, which reduces attack frequency and amyloidosis risk. However, up to 5% of patients are considered resistant or inadequately respond to colchicine, and some others cannot tolerate the side effects of effective doses of colchicine (colchicine intolerant)...
March 20, 2017: Seminars in Arthritis and Rheumatism
https://www.readbyqxmd.com/read/28394112/effect-of-familial-mediterranean-fever-on-ivf-outcome-a-retrospective-case-series
#14
Nafiye Karakas Yilmaz, Mustafa Kara, Metin Kaba, Bugra Coskun, Selcuk Erkilinc, Salim Erkaya
Although the in vitro fertilization-intra-cytoplasmic sperm injection (IVF-ICSI) has been utilized widely, the management in patients with an autoimmune disease is still a challenge. The aim of this study was to demonstrate IVF-ICSI outcomes in infertile women with familial Mediterranean fever (FMF). Patient data were collected from the cases registered from January 2006 until January 2014. A total of 6152 assisted reproductive technology (ART) cycles were analyzed retrospectively in the Ankara Zekai Tahir Burak Women’s Health Education and Research Hospital...
June 2016: Acta Clinica Croatica
https://www.readbyqxmd.com/read/28387826/clinical-update-on-inflammasomopathies
#15
Hafize Emine Sönmez, Seza Özen
Inflammasomes are important elements of the innate immune defense. The most common autoinflammatory syndromes, as well a number of rare ones, are due to hereditary defects in the inflammasomes, hence are called inflammasomopathies. The recent clinical advances in these diseases will be reviewed, with special emphasis on reflecting the international collaborative work in the field. Recent recommendations for familial Mediterranean fever (FMF), cryopyrin-associated periodic syndromes (CAPS) and hyper-IgD syndrome (HIDS) / mevalonate kinase deficiency (MKD) will be presented and diagnostics tests, treatment alternatives, and follow-up recommendations will be summarized...
April 6, 2017: International Immunology
https://www.readbyqxmd.com/read/28386255/familial-mediterranean-fever-recent-developments-in-pathogenesis-and-new-recommendations-for-management
#16
REVIEW
Seza Özen, Ezgi Deniz Batu, Selcan Demir
Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease (AID) affecting mainly the ethnic groups originating from Mediterranean basin. The disease is characterized by self-limited inflammatory attacks of fever and polyserositis along with elevated acute phase reactants. FMF is inherited autosomal recessively; however, a significant proportion of heterozygotes also express the phenotype. FMF is caused by mutations in the MEFV gene coding for pyrin, which is a component of inflammasome functioning in inflammatory response and production of interleukin-1β (IL-1β)...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28382039/genetic-and-epigenetic-determinants-in-autoinflammatory-diseases
#17
REVIEW
Damiana Álvarez-Errico, Roser Vento-Tormo, Esteban Ballestar
The concept of autoinflammation has evolved over the past 20 years, beginning with the discovery that mutations in the Mediterranean Fever (MEFV) gene were causative of Familial Mediterranean Fever. Currently, autoinflammatory diseases comprise a wide range of disorders with the common features of recurrent fever attacks, prevalence of hyperreactive innate immune cells, and signs of inflammation that can be systemic or organ specific in the absence of pathogenic infection of autoimmunity. Innate immune cells from the myeloid compartment are the main effectors of uncontrolled inflammation that is caused in great extent by the overproduction of inflammatory cytokines such as IL-1β and IL-18...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28371574/tofacitinib-suppresses-disease-activity-and-febrile-attacks-in-a-patient-with-coexisting-rheumatoid-arthritis-and-familial-mediterranean-fever
#18
Kevser Gök, Gizem Cengiz, Kemal Erol, Salih Ozgocmen
Familial Mediterranean fever (FMF) is the most common hereditary auto-inflammatory (periodic fever) syndrome, and usually successfully treated with colchicine. However, nearly 5-10% of FMF cases are resistant or intolerant to colchicine and treatment options are highly restricted in these cases. Biologics including anakinra, canakinumab, rilonacept, etanercept, infliximab, interferon-alpha, and tocilizumab are shown to have efficacy to control FMF attacks. Tofacitinib, a Janus kinase (JAK) inhibitor, is an orally administered non-biologic disease modifying anti-rheumatic drug for the treatment of rheumatoid arthritis (RA)...
January 2017: Acta Reumatológica Portuguesa
https://www.readbyqxmd.com/read/28367474/genetic-analysis-of-southwestern-iranian-patients-with-familial-mediterranean-fever
#19
Mahmoud Haghighat, Mozhgan Moghtaderi, Shirin Farjadian
BACKGROUND: Familial Mediterranean fever (FMF) is an autosomal recessive genetic disorder characterized by recurrent episodes of self-limited fever and serosal tissues inflammation. METHODS: To evaluate clinical symptoms and common genetic mutations in southwestern Iranian patients with FMF, 20 unrelated patients were enrolled in this study based on clinical criteria. A panel of 12 common MEFV gene mutations was tested. RESULTS: The most frequent clinical presentations of the patients were fever, colicky abdominal pain and arthritis...
April 2017: Reports of Biochemistry & Molecular Biology
https://www.readbyqxmd.com/read/28362189/canakinumab-for-the-treatment-of-familial-mediterranean-fever
#20
Huri Ozdogan, Serdal Ugurlu
Familial Mediterranean fever (FMF) is the most frequent of all hereditary autoinflammatory syndromes. It is characterized by recurrent attacks of fever and serositis. If not treated it may be complicated with AA amyloidosis. It is caused by mutations in the MEFV gene that encodes pyrin which is involved in the regulation of IL-1β. The mainstay of treatment is colchicine, however a subset of patients requires an alternative treatment either due to inadequate response or intolerance. The accumulating data indicates that anti IL-1 drugs are effective in treating colchicine resistant FMF cases and improving their quality of life...
April 10, 2017: Expert Review of Clinical Immunology
keyword
keyword
59123
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"