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https://www.readbyqxmd.com/read/28631068/autoinflammatory-diseases-with-periodic-fevers
#1
REVIEW
Erdal Sag, Yelda Bilginer, Seza Ozen
PURPOSE OF REVIEW: One purpose of this review was to raise awareness for the new autoinflammatory syndromes. These diseases are increasingly recognized and are in the differential diagnosis of many disease states. We also aimed to review the latest recommendations for the diagnosis, management, and treatment of these patients. RECENT FINDINGS: Familial Mediterranean fever (FMF), cryopyrin-associated periodic syndrome (CAPS), tumor necrosis factor receptor-associated periodic fever syndrome (TRAPS), and hyperimmunoglobulinemia D and periodic fever syndrome/mevalonate kinase deficiency (HIDS/MVKD) are the more common autoinflammatory diseases that are characterized by periodic fevers and attacks of inflammation...
July 2017: Current Rheumatology Reports
https://www.readbyqxmd.com/read/28624931/familial-mediterranean-fever-review-of-the-literature
#2
Mansour Alghamdi
Familial Mediterranean fever (FMF) is the most common monogenic periodic fever syndrome and characterized by recurrent episodes of fever, serositis, arthritis, dermal manifestations, and long-term renal complications. The MEFV gene was described in 1997 as the gene responsible for FMF and is inherited in autosomal recessive manner. It encodes mutated protein pyrin, an important player in the innate immune system and the component of inflammasome which leads to exaggerated inflammatory response through uncontrolled production of interleukin-1...
June 18, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28607791/benign-multicystic-peritoneal-mesothelioma-a-rare-condition-in-an-uncommon-gender
#3
Muhammad S Khurram, Hamadullah Shaikh, Uqba Khan, Jacob Edens, Warda Ibrar, Ameer Hamza, Awais Zaka, Roohi Bano, Tarik Hadid
Benign Multicystic Peritoneal Mesothelioma (BMPM) is a rare condition that arises from the abdominal peritoneum. Fewer than 200 cases have been reported worldwide. BMPM usually affects premenopausal women and is extremely rare in men. Many factors are suspected to contribute to its development, such as previous surgery, endometriosis, and familial Mediterranean fever. The main management is surgical resection; however, it is estimated that the recurrence rate is up to 50%. Malignant transformation is rare. We report a case series of three male patients who were diagnosed with BMPM and were treated with cytoreductive surgery and hyperthermic intraperitoneal chemotherapy (HIPEC)...
2017: Case Reports in Pathology
https://www.readbyqxmd.com/read/28606022/severity-and-frequency-of-restless-legs-syndrome-in-patients-with-familial-mediterranean-fever
#4
Samet Yılmaz, Burhanettin Çiğdem, Şeyda Figül Gökçe, Sevil Ceyhan-Doğan, Hatice Balaban
OBJECTIVE: Restless legs syndrome (RLS) is a common sensory motor disorder. RLS an urge to move the extremities that may be accompanied by dysesthesias, and significantly affects quality of life of affected patients. The frequency of RLS is higher in different systemic inflammatory diseases. Familial Mediterranean fever (FMF) is an inherited inflammatory disease characterized by attacks of polyserositis, arthritis, and fever. The prevalence of RLS in patients with FMF is unknown. This study aimed to evaluate the prevalence rate of RLS in a sample of patients with FMF and compare this prevalence with that of a matched normal population...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/28598780/the-liver-in-familial-mediterranean-fever-is-it-involved
#5
REVIEW
Eldad Ben-Chetrit, Hasan Yazici
OBJECTIVES: Familial Mediterranean fever (FMF) is characterised by recurrent attacks of fever and serositis. It may affect the peritoneum, pleura, synovia and the skin. Usually the liver is intact in FMF. Recently, this concept was challenged by some groups which claimed that hepatitis is a feature of FMF and that non-alcoholic liver disease (NAFLD) and cryptogenic cirrhosis are more common among FMF patients. Scope of this paper is to critically review the relevant literature and to answer the question whether or not the liver is involved in FMF...
June 9, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28598319/are-children-with-familial-mediterranean-fever-really-vitamin-d-deficient
#6
Fatih Mehmet Kelesoglu, Erhan Aygun, Gafur Dogdu, Sena Ozer, Ciftkaya Aylin, Helin Ay, Kaya Seyma, Osman Karli, Fatih Orem, Rukiye Eker Omeroglu
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May 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28597968/genetic-epidemiology-of-familial-mediterranean-fever-through-integrative-analysis-of-whole-genome-and-exome-sequences-from-middle-east-and-north-africa
#7
Remya Koshy, Ambily Sivadas, Vinod Scaria
Familial Mediterranean fever (FMF), an autosomal recessive and rare autoinflammatory disease is caused by genetic mutations in the MEFV gene and is highly prevalent in the Mediterranean basin. Though the carrier frequency of specific disease variants in the MEFV gene has been reported from isolated studies, a comprehensive view of variants in the Mediterranean region has not been possible due to paucity of data. The recent availability of whole-genome and whole-exome datasets prompted us to study the genetic epidemiology of MEFV variants in the region...
June 9, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28590056/r202q-m694v-as-novel-mefv-gene-mutations-in-chronic-periodontitis-and-familial-mediterranean-fever
#8
Ö Fentoğlu, G Dinç, Ö Bağcı, A Doğru, I İlhan, F Y Kırzıoğlu, H Orhan
BACKGROUND AND OBJECTIVE: Familial Mediterranean fever (FMF) and chronic periodontitis are inflammatory diseases leading to an increase in the number of inflammasomes. To date, no published studies have reported on mutations in the Mediterranean fever (MEFV) gene in patients with chronic periodontitis, although the roles of MEFV gene mutations in FMF and FMF-associated amyloidosis (FMF-A) are well known. Therefore, the aim of this study was to evaluate the frequencies of MEFV gene mutations and serum amyloid A (SAA) and high-sensitivity C-reactive protein (hs-CRP) levels in patients with chronic periodontitis, FMF and FMF-A...
June 7, 2017: Journal of Periodontal Research
https://www.readbyqxmd.com/read/28589388/-efficacy-and-safety-analysis-of-off-label-treatment-with-biologics-in-autoinflammatory-diseases-experiences-from-a%C3%A2-german-registry%C3%A2-graid2
#9
F Proft, M Fleck, C Fiehn, H Schulze-Koops, M Witt, T Dörner, J C Henes
OBJECTIVE: To evaluate the safety and efficacy of therapy with biologics in patients with autoinflammatory diseases (AIF) or macrophage activating syndrome (MAS) in a real-life setting in Germany. METHODS: The German Register of Autoimmune Diseases 2 (GRAID2) is a retrospective, non-interventional, multicenter registry collecting data from all patients with inflammatory rheumatic diseases refractory to conventional therapy and treated with initial off-label biologics between August 2006 and December 2013...
June 6, 2017: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/28588821/coupling-clinical-exome-sequencing-with-functional-characterization-studies-to-diagnose-a-patient-with-familial-mediterranean-fever-and-med13l-haploinsufficiency-syndromes
#10
Sureni V Mullegama, Phillip Jensik, Chen Li, Naghmeh Dorrani, Sibel Kantarci, Bruce Blumberg, Wayne W Grody, Samuel P Strom
Clinicians should consider that clinical exome sequencing provides the unique potential to disentangle complex phenotypes into multiple genetic etiologies. Further, functional studies on variants of uncertain significance are necessary to arrive at an accurate diagnosis for the patient.
June 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28588486/potential-of-il-1-il-18-and-inflammasome-inhibition-for-the-treatment-of-inflammatory-skin-diseases
#11
REVIEW
Gabriele Fenini, Emmanuel Contassot, Lars E French
In 2002, intracellular protein complexes known as the inflammasomes were discovered and were shown to have a crucial role in the sensing of intracellular pathogen- and danger-associated molecular patterns (PAMPs and DAMPs). Activation of the inflammasomes results in the processing and subsequent secretion of the pro-inflammatory cytokines IL-1β and IL-18. Several autoinflammatory disorders such as cryopyrin-associated periodic syndromes and Familial Mediterranean Fever have been associated with mutations of genes encoding inflammasome components...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28585601/canakinumab-treatment-in-four-children-with-colchicine-resistant-familial-mediterranean-fever
#12
Solmaz Ozkan, Bulent Atas
Familial Mediterranean Fever (FMF) is an autosomal recessive and autoinflammatory disease, characterized with inflammation of serous membranes such as peritoneum, pleura, synovium with fever and pain. Colchicine is the main treatment of FMF, but 5-10 % of patients are unresponsive to colchicine. We report using anti-interleukin-1 agents anakinra and canakinumab in four colchicine-resistant patients who were successfully treated. Three of the patients were siblings.
June 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28581880/does-familial-mediterranean-fever-affect-cognitive-function-in-children-electrophysiological-preliminary-study
#13
Gonca Keskindemirci, Gökçer Eskikurt, Nuray Aktay Ayaz, Mustafa Çakan, Numan Ermutlu, Ümmühan İşoğlu Alkaç
OBJECTIVES: Familial Mediterranean fever (FMF) is a periodic autoinflammatory disease with subclinical inflammation occurring between attacks. The aim of the study was to prospectively evaluate the cognitive function of children diagnosed with FMF that were under colchicine therapy and compare them with healthy controls through electrophysiologically event-related potentials (ERPs) study. METHODS: Twelve children with FMF and 12 healthy controls were included in the study...
June 5, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28578473/geoepidemiology-and-immunologic-features-of-autoinflammatory-diseases-a-comprehensive-review
#14
REVIEW
Yvan Jamilloux, Alexandre Belot, Flora Magnotti, Sarah Benezech, Mathieu Gerfaud-Valentin, Emilie Bourdonnay, Thierry Walzer, Pascal Sève, Thomas Henry
The knowledge on systemic autoinflammatory disorders (SAID) is expanding rapidly and new signalling pathways are being decrypted. The concept of autoinflammation has been proposed since 1999, to define a group of diseases with abnormal innate immunity activation. Since then, more than 30 monogenic SAID have been described. In this review, we first describe inflammasomopathies and SAID related to the interleukin-1 pathway. Recent insights into the pathogenesis of familial Mediterranean fever and the function of Pyrin are detailed...
June 3, 2017: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/28573371/frequency-of-familial-mediterranean-fever-mefv-gene-mutations-in-patients-with-biopsy-proven-primary-glomerulonephritis
#15
Can Huzmeli, Ferhan Candan, Gokhan Bagci, Demet Alaygut, Ali Yilmaz, Asim Gedikli, Binnur Bagci, Meryem Timucin, Ilhan Sezgin, Mansur Kayatas
Primary glomerulopathies are those disorders that affect glomerular structure, function, or both in the absence of a multisystem disorder. We aimed to evaluate the frequency of MEFV gene mutation to show possible coexistence of FMF in patients diagnosed with biopsy-proven primary glomerulonephritis (GN). A total of 64 patients with biopsy-proven primary GN were included in the study. MEFV gene mutations examined retrospectively. The mean age of patients was 39.6 ± 13.4 (range 18-69), 35 of patients were female and 29 of patients were male...
June 1, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28560764/incidence-of-sleep-disturbances-in-patients-with-familial-mediterranean-fever-and-the-relation-of-sleep-quality-with-disease-activity
#16
Orhan Kucuksahin, Ahmet Omma, Ali Erhan Ozdemirel, Duygu Tecer, Sümeyye Ulutas, Yüksel Maras, Ayşe Balkarlı, Şükran Erten
AIM: To evaluate the sleep quality and the relation of sleep quality with depression, anxiety, fatigue and disease activity in adult patients with familial Mediterranean fever (FMF). METHOD: One hundred and seventy-four FMF patients and 84 age-sex matched healthy individuals were included in this study. The Pittsburgh Sleep Quality Index (PSQI), Multidimensional Assessment of Fatigue (MAF) and the Hospital Anxiety and Depression Index (HADS) were used to assess sleep quality, fatigue, depression and anxiety, respectively...
May 31, 2017: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/28558744/tocilizumab-in-the-treatment-of-twelve-cases-with-aa-amyloidosis-secondary-to-familial-mediterranean-fever
#17
Serdal Ugurlu, Aysa Hacioglu, Yasaman Adibnia, Vedat Hamuryudan, Huri Ozdogan
BACKGROUND: There is no established treatment of AA amyloidosis, a long-term complication of various chronic inflammatory diseases associated with increased mortality, such as familial Mediterranian fever (FMF). Recently there are few reports pointing out that tocilizumab(TCZ), an anti IL-6 agent may be effective in AA amyloidosis resistant to conventional treatments. We report our data on the effect of TCZ in patients with FMF complicated with AA amyloidosis. METHODS: FMF patients with histologically proven AA amyloidosis, treated with TCZ (8 mg/kg per month) were followed monthly and the changes in creatinine, creatinine clearance, the amount of 24-hour urinary protein, erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) were noted throughout the treatment period...
May 30, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28539550/a-retrospective-analysis-of-7-cases-of-familial-mediterranean-fever
#18
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
#19
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
#20
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
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