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familial Mediterranean fever

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https://www.readbyqxmd.com/read/28211254/egyptian-tale-from-india-application-of-whole-exome-sequencing-in-diagnosis-of-atypical-familial-mediterranean-fever
#1
Pulukool Sandhya, Shamsudheen Karuthedath Vellarikkal, Aswin Nair, Rowmika Ravi, John Mathew, Rijith Jayarajan, Anoop Kumar, Ankit Verma, Ambily Sivadas, Debashish Danda, Sridhar Sivasubbu, Vinod Scaria
Clinical diagnosis of autoinflammatory diseases requires a high degree of clinical suspicion and clinching molecular evidence to substantiate the diagnosis. This is more so in populations with low prevalence of these disorders. In this report, we describe the case of a young man from India with recurrent fever and persistent arthritis. The patient's forefathers were of Egyptian ancestry who practiced consanguinity. Molecular genetic analysis using whole-exome sequencing suggested the presence of variants c...
February 17, 2017: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/28197346/allogeneic-transplant-in-elane-and-mefv-mutation-positive-severe-cyclic-neutropenia-review-of-prognostic-factors-for-secondary-severe-events
#2
Onyemaechi N Okolo, Emmanuel Katsanis, Seongseok Yun, Candace Y Reveles, Faiz Anwer
Objective and Importance. Cyclic neutropenia (CyN) is a rare autosomal dominant inherited disorder due to the mutation ELANE primarily affecting bone marrow stem cells and is characterized by recurrent neutropenia every 2 to 4 weeks. Symptoms vary from benign to severe, including death. Postulations on the cause of wide spectrum in symptom presentation include the possibility of other genetic mutations, such as MEFV. Recommended treatment for CyN is G-CSF to keep ANC higher to minimize risk of infection. Case...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/28194777/familial-mediterranean-fever-patients-with-hidradenitis-suppurativa
#3
Secil Vural, Mustafa Gundogdu, Nihal Kundakci, Thomas Ruzicka
BACKGROUND: Hidradenitis suppurativa (HS) has recently been described as a component of two autoinflammatory syndromes: PASH (pyoderma gangrenosum, acne, and HS) and PAPASH (pyoderma gangrenosum, acne, pyogenic arthritis, and HS). These associations together with others such as inflammatory bowel diseases suggest that defects in autoinflammatory pathways may play a role in the pathogenesis of HS. OBJECTIVES: To describe clinical and genetic characteristics of two unrelated patients with HS and familial Mediterranean fever (FMF)...
February 14, 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28191008/the-nlrp3-and-pyrin-inflammasomes-implications-in-the-pathophysiology-of-autoinflammatory-diseases
#4
REVIEW
Carlos de Torre-Minguela, Pablo Mesa Del Castillo, Pablo Pelegrín
Inflammasomes are multiprotein complexes that critically control different aspects of innate and adaptive immunity. Among them we could highlight the release of pro-inflammatory cytokines that induce and maintain the inflammatory response. Usually, inflammasomes result from oligomerization of a nucleotide-binding domain-like receptor (NLR) after sensing different pathogenic or endogenous sterile dangerous signals; however, other proteins such as absent in melanoma 2, retinoic acid-inducible gene I, or pyrin could also form inflammasome platforms...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28181703/a-rare-cause-of-duodenojejunal-pseudopolyposis-report-of-a-case-of-adult-onset-familial-mediterranean-fever
#5
Motohiro Esaki, Shinichi Kawano, Takayuki Matsumoto
A 39-year-old woman was referred to our hospital for further evaluation of jejunal wall thickening with reactive lymph nodes swelling detected by abdominal CT. During previous 8 months, she had been suffering from periodic epigastric pain along with high fever (38-39°C), which spontaneously regressed within 2-3 days. Anterograde enteroscopy during asymptomatic period showed irregular mucosal folds and scattered inflammatory polyps without active inflammation from the duodenal third portion to the upper jejunum (Fig...
February 9, 2017: Digestive Endoscopy: Official Journal of the Japan Gastroenterological Endoscopy Society
https://www.readbyqxmd.com/read/28178435/an-up-to-date-approach-to-a-patient-with-a-suspected-autoinflammatory-disease
#6
REVIEW
Merav Lidar, Eitan Giat
Autoinflammatory diseases (AID) are characterized by seemingly unprovoked self-limited attacks of fever and systemic inflammation potentially leading to amyloidosis. Familial Mediterranean fever (FMF) is the most common AID and therefore the most studied. Besides FMF, the other main hereditary AID are tumor necrosis factor-associated periodic fever syndrome (TRAPS), mevalonate kinase deficiency (MKD), and cryopyrin-associated periodic fever syndrome (CAPS). These hereditary diseases result from a mutant gene that is involved in the regulation of inflammation, resulting in a characteristic clinical phenotype...
January 30, 2017: Rambam Maimonides Medical Journal
https://www.readbyqxmd.com/read/28165838/microarray-analysis-of-circulating-micrornas-in-familial-mediterranean-fever
#7
Taizo Wada, Tomoko Toma, Yusuke Matsuda, Akihiro Yachie, Saori Itami, Yoshihiro Taguchi, Yoshiki Murakami
OBJECTIVES: Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by mutations in MEFV. Mutations in exon 10 are associated with typical FMF phenotypes, whereas the pathogenic role of variants in exons 2 and 3 remains uncertain. Recent evidence suggests that circulating microRNAs are potentially useful biomarkers in several diseases. Therefore, their expression was assessed in FMF. METHODS: The subjects were 24 patients with FMF who were between attacks: 8 with exon 10 mutations (group A), 8 with exon 3 mutations (group B), and 8 without exon 3 or 10 mutations (group C)...
February 6, 2017: Modern Rheumatology
https://www.readbyqxmd.com/read/28154935/-role-of-genetics-in-familial-mediterranean-fever
#8
REVIEW
T Kallinich, B Orak, H Wittkowski
Familial Mediterranean fever (FMF) is caused by mutations within the Mediterranean fever (MEFV) gene. These gain of function mutations lead to an increased activation of the inflammasome pyrin with a subsequent disproportional proinflammatory reaction. Classically, in FMF patients two pathogenic mutations affecting both alleles are found in the molecular genetic analysis; however, it is well known that the phenotype can also be caused either by mutations with lower penetrance or unknown significance. Furthermore, in a significant number of patients only one or even no MEFV mutations can be detected...
February 2, 2017: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/28151032/the-frequency-of-the-celiac-disease-among-children-with-familial-mediterranean-fever
#9
Yasin Sahin, Amra Adrovic, Kenan Barut, Tufan Kutlu, Fugen Cullu-Cokugras, Sezgin Sahin, Ozgur Kasapcopur, Tulay Erkan
OBJECTIVES: We aimed to assess the frequency of celiac disease (CD) in patients with Familial Mediterranean Fever (FMF). METHODS: This is a prospective study was carried out from October 2015 to March 2016. A total of 303 patients with FMF were included. We used 98 sex- and age-matched healthy subjects as a control group. Levels of total IgA and tissue transglutaminase (tTG) IgA antibody were measured in all groups. Those with increased level of tTG IgA were tested for anti-endomysium IgA antibodies (EMA)...
February 2, 2017: Modern Rheumatology
https://www.readbyqxmd.com/read/28149656/immune-and-inflammatory-gene-expressions-are-different-in-beh%C3%A3-et-s-disease-compared-to-those-in-familial-mediterranean-fever
#10
Filiz Türe Özdemir, Emel Ekşioğlu Demiralp, Sibel Z Aydın, Pamir Atagündüz, Tülin Ergun, Haner Direskeneli
OBJECTIVE: The immune classification of Behçet's disease (BD) is still controversial. In this study, we aimed to compare the immune/inflammatory gene expressions in BD with those in familial Mediterranean fever (FMF), an autoinflammatory disorder with innate immune activation. MATERIAL AND METHODS: CD4+ T cells and CD14+ monocytes were isolated from the peripheral blood mononuclear cells of Behçet's disease patients (n=10), FMF (n=6) patients, and healthy controls (n=4) with microbeads, and then, the mRNA was isolated...
December 2016: European Journal of Rheumatology
https://www.readbyqxmd.com/read/28140472/lactobacillus-acidophilus-inmia-9602-er-2-strain-317-402-probiotic-regulates-growth-of-commensal-escherichia-coli-in-gut-microbiota-of-familial-mediterranean-fever-disease-subjects
#11
A Z Pepoyan, M H Balayan, A M Manvelyan, V Mamikonyan, M Isajanyan, V V Tsaturyan, S Kamiya, V Netrebov, M L Chikindas
Previously, we reported a positive effect the probiotic formulation, Lactobacillus acidophillus INMIA 9602 Er-2 strain 317/402 (Narine strain), had on the blood characteristics of patients with familial Mediterranean fever disease (FMF). The aim of this investigation was to evaluate the effect of the Narine probiotic on growth characteristics in the predominant commensal Escherichia coli isolates from the gut microbiota in FMF positive study participants. Bacterial growth of 192 prevalent commensal E. coli isolates found in the volunteer participants' guts were evaluated using Verhulst's logistic function...
January 31, 2017: Letters in Applied Microbiology
https://www.readbyqxmd.com/read/28129677/monogenic-auto-in%C3%AF-ammatory-syndromes-a-review-of-the-literature
#12
Gholamreza Azizi, Shahin Khadem Azarian, Sepideh Nazeri, Ali Mosayebian, Saleh Ghiasy, Ghazal Sadri, Ali Mohebi, Nikoo Hossein Khan Nazer, Sanaz Afraei, Abbas Mirshafiey
Auto-inflammatory syndromes are a new group of distinct hereditable disorders characterized by episodes of seemingly unprovoked inflammation (most commonly in skin, joints, gut, and eye), the absence of a high titer of auto-antibodies or auto-reactive T cells, and an inborn error of innate immunity. A narrative literature review was carried out of studies related to auto-inflammatory syndromes to discuss the pathogenesis and clinical manifestation of these syndromes. This review showed that the main monogenic auto-inflammatory syndromes are familial Mediterranean fever (FMF), mevalonate kinase deficiency (MKD), Blau syndrome, TNF receptor-associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS), and pyogenic arthritis with pyoderma gangrenosum and acne (PAPA)...
December 2016: Iranian Journal of Allergy, Asthma, and Immunology
https://www.readbyqxmd.com/read/28108907/peripapillary-retinal-nerve-fiber-layer-and-ganglion-cell-inner-plexiform-layer-thickness-in-adult-onset-familial-mediterranean-fever
#13
Sait Alim, Mehmet Esen, Ayşe Kevser Demir, Selim Demir, Hüseyin Ortak, Alper Güneş, Tufan Alatli, Helin Deniz Demir
OBJECTIVE: The purpose of the present study was to evaluate the thickness of the peripapillary retinal nerve fiber layer (RNFL) and retinal ganglion cell-inner plexiform layer (GCIPL) in adult-onset familial Mediterranean fever (FMF). METHODS: Forty two adult-onset FMF patients and forty two healthy controls were included in the present study. Detailed ocular examination was performed, and then the thickness of the peripapillary RNFL and GCIPL was measured by Spectral domain optical coherence tomography...
January 21, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/28097903/treatment-of-familial-mediterranean-fever-with-anakinra-in-patients-unresponsive-to-colchicine
#14
A-C Pecher, A Igney-Oertel, L Kanz, J Henes
No abstract text is available yet for this article.
January 18, 2017: Scandinavian Journal of Rheumatology
https://www.readbyqxmd.com/read/28074304/evaluation-of-endothelial-dysfunction-in-patients-with-familial-mediterranean-fever-the-relationship-between-the-levels-of-asymmetric-dimethylarginine-and-endocan-with-carotid-intima-media-thickness-and-endothelium-dependent-vasodilation
#15
Veysel Ozalper, Muammer Kara, Alpaslan Tanoglu, Ibrahim Cetındaglı, Coskun Ozturker, Yusuf Hancerlı, Serdar Hıra, Kemal Kara, Yavuz Beyazıt, Yusuf Yazgan
It has been suggested that there is an ongoing subclinical inflammation in familial Mediterranean fever (FMF) patients also in attack-free periods as well. Due to this ongoing inflammation, endothelial dysfunction (ED) may develop. Previously, ED has been suggested to increase the risk of the atherosclerosis and cardiovascular disease (CVD). Endocan is recognized as a specific molecule of the endothelium and has been shown to increase in some cases associated with inflammation. However, there is not sufficient data whether those with FMF could develop ED in the early period of life...
January 10, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28042127/longterm-beneficial-effect-of-canakinumab-in-colchicine-resistant-familial-mediterranean-fever
#16
Katerina Laskari, Panagiota Boura, George N Dalekos, Alexandros Garyfallos, Dimitrios Karokis, Dimitrios Pikazis, Loukas Settas, Grigoris Skarantavos, Elena Tsitsami, Petros P Sfikakis
OBJECTIVE: To assess the efficacy and safety of the interleukin-1β (IL-1β) inhibitor canakinumab in all adolescent and adult patients with familial Mediterranean fever (FMF) identified from the Greek National Registry for off-label drug use between 2010 and 2015. METHODS: In this retrospective longitudinal outcome study, clinical and laboratory data were collected from 14 patients (7 men) aged median 38.5 years (range 13-70), with median disease duration of 14 years, and active FMF despite colchicine (n = 9) or both colchicine and anakinra (n = 5)...
January 2017: Journal of Rheumatology
https://www.readbyqxmd.com/read/28040706/familial-mediterranean-fever-associated-diseases-in-children
#17
Z Birsin Özçakar, Nilgün Çakar, Nermin Uncu, Banu Acar Çelikel, Fatoş Yalçınkaya
BACKGROUND: MEditerranean FeVer (MEFV) gene encodes for the pyrin protein and a mutated pyrin is associated with a prolonged or augmented inflammation. Hence, various diseases were reported to be associated with familial Mediterranean fever (FMF) or carriers of MEFV mutations. However, systematic evaluation of all associated diseases in children with FMF has not been done previously. AIM: The aim of this study was to investigate the frequency and type of FMF-associated diseases in children...
December 30, 2016: QJM: Monthly Journal of the Association of Physicians
https://www.readbyqxmd.com/read/28030380/potential-anticancer-role-of-colchicine-based-derivatives-an-overview
#18
Ashok Kumar, Parduman R Sharma, Dilip M Mondhe
Colchicine, the main alkaloid of the poisonous plant meadow saffron (Colchicum autumnale L.), is a classical drug used for the treatment of gout and familial Mediterranean fever. Although colchicine is not clinically used to treat cancer because of toxicity, it exerts antiproliferative effects through the inhibition of microtubule formation by blocking the cell cycle at the G2/M phase and triggering apoptosis. Colchicine can still be used as a lead compound for the generation of potential anticancer drugs. Thus, numerous analogues of colchicine have been synthesized in the hope of developing novel, useful drugs with more favourable pharmacological profiles...
March 2017: Anti-cancer Drugs
https://www.readbyqxmd.com/read/28018446/familial-mediterranean-fever-presenting-as-fever-of-unknown-origin-in-korea
#19
Jun Hee Lee, Jong Hyun Kim, Jung Ok Shim, Kwang Chul Lee, Joo Won Lee, Jung Hwa Lee, Jae Jin Chae
Familial Mediterranean fever (FMF) is the most common Mendelian autoinflammatory disease, characterized by uncontrolled activation of the innate immune system that manifests as recurrent brief fever and polyserositis (e.g., peritonitis, pleuritic, and arthritis). FMF is caused by autosomal recessive mutations of the Mediterranean fever gene, MEFV which encodes the pyrin protein. Although FMF predominantly affects people from Mediterranean and Middle Eastern ethnic origins, 3 cases of FMF have been reported in Korea since 2012...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28006774/the-prevalence-of-fabry-disease-in-patients-with-chronic-kidney-disease-in-turkey-the-turkfab-study
#20
Kultigin Turkmen, Aydın Guclu, Garip Sahin, Ismail Kocyigit, Levent Demirtas, Fatih Mehmet Erdur, Erkan Sengül, Oktay Ozkan, Habib Emre, Faruk Turgut, Hilmi Unal, Murat Karaman, Cengiz Acıkel, Hasan Esen, Ebru Balli, Gulfidan Bıtırgen, Halil Zeki Tonbul, Mahmut Ilker Yılmaz, Alberto Ortiz
BACKGROUND/AIMS: Fabry disease is a treatable cause of chronic kidney disease (CKD) characterized by a genetic deficiency of α-galactosidase A. European Renal Best Practice (ERBP) recommends screening for Fabry disease in CKD patients. However, this is based on expert opinion and there are no reports of the prevalence of Fabry disease in stage 1-5 CKD. Hence, we investigated the prevalence of Fabry disease in CKD patients not receiving renal replacement therapy. METHODS: This prospective study assessed α-galactosidase activity in dried blood spots in 313 stage 1-5 CKD patients, 167 males, between ages of 18-70 years whose etiology of CKD was unknown and were not receiving renal replacement therapy...
2016: Kidney & Blood Pressure Research
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