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familial Mediterranean fever

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https://www.readbyqxmd.com/read/28342915/redd1-links-stress-with-il-1%C3%AE-mediated-familial-mediterranean-fever-attack-through-autophagy-driven-neutrophil-extracellular-traps
#1
Panagiotis Skendros, Akrivi Chrysanthopoulou, François Rousset, Konstantinos Kambas, Athanasios Arampatzioglou, Alexandros Mitsios, Veronique Bocly, Theocharis Konstantinidis, Philippe Pellet, Iliana Angelidou, Eirini Apostolidou, Dimitrios Ritis, Victoria Tsironidou, Sotiris Galtsidis, Charalampos Papagoras, Dimitrios Stakos, Georgios Kouklakis, Vasiliki Dalla, Maria Koffa, Ioannis Mitroulis, Ioannis Theodorou, Konstantinos Ritis
BACKGROUND: Familial Mediterranean fever (FMF) is an IL-1β-dependent autoinflammatory disease caused by mutations of MEFV encoding pyrin, and characterised by inflammatory attacks, induced by physical or psychological stress. OBJECTIVE: We investigate the underlying mechanism that links stress-induced inflammatory attacks with neutrophil activation and release of IL-1β-bearing neutrophil extracellular traps (NETs) in FMF. METHODS: RNA-seq was performed in peripheral neutrophils from 3 FMF patients, isolated both during attack and remission, 8 patients in remission and 8 healthy individuals...
March 22, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28319450/retinal-and-choroidal-thickness-in-adult-patients-with-familial-mediterranean-fever
#2
Tolga Bicer, Osman Celikay, Mustafa Kosker, Muhammed Yunus Alp, Cem Ozisler, Ahmet Yesilyurt, Burcu Kucuk Bicer, Canan Gurdal
PURPOSE: We aimed to evaluate changes in retinal, choroidal, ganglion cell complex (GCC) and retinal nerve fiber layer (RNFL) thicknesses in genetically diagnosed adult patients with familial Mediterranean fever (FMF). METHODS: A total of 50 eyes of 50 genetically diagnosed patients with FMF and 50 eyes of controls were analyzed. Patients were recruited from the Genetic Diagnostic Center of Dışkapı Yıldırım Beyazıt Research and Training Hospital, Turkey. Retinal and choroidal thicknesses were obtained using spectral-domain optical coherence tomography from choroid, retina, GCC, and RNFL...
March 20, 2017: Ophthalmic Epidemiology
https://www.readbyqxmd.com/read/28302131/a-survey-of-resistance-to-colchicine-treatment-for-french-patients-with-familial-mediterranean-fever
#3
REVIEW
Alice Corsia, Sophie Georgin-Lavialle, Véronique Hentgen, Eric Hachulla, Gilles Grateau, Albert Faye, Pierre Quartier, Linda Rossi-Semerano, Isabelle Koné-Paut
BACKGROUND: Colchicine is the standard treatment for familial Mediterranean fever (FMF), preventing attacks and inflammatory complications. True resistance is rare and yet not clearly defined. We evaluated physicians' definition of colchicine resistance and report how they manage it. PATIENTS AND METHODS: We recruited patients with a clinical diagnosis of FMF, one exon-10 Mediterranean fever (MEFV) gene mutation and considered resistant to colchicine, via networks of expert physicians...
March 16, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28293457/anakinra-use-during-pregnancy-report-of-a-case-with-familial-mediterranean-fever-and-infertility
#4
Ufuk İlgen, Orhan Küçükşahin
Familial Mediterranean fever (FMF), affecting people of Mediterranean origin, is an endemic and sometimes problematic disease because of colchicine resistance/intolerance, with relative lack of treatment alternatives, and disease- or treatment-related issues, such as subfertility. Anakinra, being a rational and effective treatment alternative, has no conclusive human pregnancy data. Here we report a case of FMF with infertility who became pregnant with in vitro fertilization (IVF) under treatment with anakinra, along with the pregnancy outcome...
March 2017: European Journal of Rheumatology
https://www.readbyqxmd.com/read/28289585/the-mefv-gene-pathogenic-variants-and-phenotype-genotype-correlation-in-children-with-familial-mediterranean-fever-in-the-%C3%A3-anakkale-population
#5
F Battal, F Silan, N Topaloğlu, H Aylanç, Ş Yıldırım, F Köksal Binnetoğlu, M Tekin, N Kaymaz, O Ozdemir
The aim of the current study was to determine the frequency of the Mediterranean fever (MEFV) gene pathogenic variants in 60 children diagnosed with familial Mediterranean fever (FMF) and to compare the phenotype-genotype correlation. Genomic DNA was isolated by the spin-column method from peripheral blood samples (collected in vacutainers containing EDTA) and buccal smears. The MEFV gene profiles for the current FMF cohort were genotyped by pyrosequencing and direct Sanger sequencing techniques for the target pathogenic variants...
December 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28260482/late-diagnosis-of-e148q-mutation-positive-familial-mediterranean-fever-in-a-kidney-transplant-patient-with-fever-of-unknown-origin-a-case-report
#6
Erhan Tatar, Adam Uslu, Cenk Simsek, Ahmet Aykas, Giray Bozkaya, Cetin Imamoglu
Fever of unknown origin is a rare condition after solid organ transplant and is generally associated with atypical infections (eg, tuberculosis, fungal infections) and/or lymphoproliferative disorders. Here, we present a kidney transplant patient with a late diagnosis of E148Q mutation-positive familial Mediterranean fever as the cause of fever of unknown origin. A 22-year-old female patient with a previous history of 4 years of hemodialysis and unknown primary renal disease received a deceased-donor kidney transplant at our center 5 years previously...
February 2017: Experimental and Clinical Transplantation
https://www.readbyqxmd.com/read/28260476/infections-after-renal-transplant-in-recipients-with-familial-mediterranean-fever-a-life-threatening-issue
#7
Erhan Tatar, Murat Karatas, Ahmet Aykas, Gokalp Okut, Giray Bozkaya, Adam Uslu
OBJECTIVES: We evaluated long-term results and infections requiring hospitalization in kidney transplant patients with Familial Mediterranean Fever (associated amyloidosis-type). MATERIALS AND METHODS: We retrospectively reviewed medical records of patients with familial Mediterranean fever with at least 1-year posttransplant follow-up. Kidney transplant recipients with primary glomerulonephritis and equivalent demography, immunity status, and follow-up comprised the control group...
February 2017: Experimental and Clinical Transplantation
https://www.readbyqxmd.com/read/28259724/current-status-of-crimean-congo-hemorrhagic-fever-in-who-eastern-mediterranean-region-issues-challenges-and-future-directions
#8
REVIEW
Seif S Al-Abri, Idris Al Abaidani, Mehdi Fazlalipour, Ehsan Mostafavi, Hakan Leblebicioglu, Natalia Pshenichnaya, Ziad A Memishemish, Roger Hewson, Jorgen Eskild Petersen, Peter Mala, Tran Minh Nhu Nguyen, Mamunur Rahman Malik, Pierre Formenty, Rosanna Lucy Jeffries
Crimean-Congo hemorrhagic fever (CCHF) is the most wide-spread, tick-borne viral disease affecting humans. The disease is endemic in many regions such as Africa, Asia, Eastern and Southern Europe, and Central Asia. Recently, the incidence of CCHF has increased rapidly in the countries of the Eastern Mediterranean Region of the World Health Organization (WHO), with sporadic human cases and outbreaks of CCHF being reported from a number of countries in the region. Despite the rapidly growing incidence of the disease, there is currently no accurate data on the burden of the disease in the region due to different surveillance systems for CCHF in the countries...
March 1, 2017: International Journal of Infectious Diseases: IJID
https://www.readbyqxmd.com/read/28258641/amyloid-goiter-a-diagnosis-to-consider-in-diffuse-fatty-infiltration-of-the-thyroid
#9
Selim Bakan, Sedat Giray Kandemirli, Serkan Akbas, Mehmet Cingoz, Burcu Ozcan Guzelbey, Fatih Kantarci, Canan Akman
An amyloid goiter is the presence of amyloid protein in the thyroid in sufficient amounts to produce enlargement of the gland, accompanied by fat deposition of varying extents. It can be seen in long-standing inflammatory disorders such as familial Mediterranean fever. Imaging findings depend on the amount of fat and amyloid deposition; however, the main imaging finding is diffuse fatty infiltration of the thyroid. Herein, the multimodality imaging features in 3 cases of amyloid goiters secondary to familial Mediterranean fever are presented...
March 4, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28255474/a-case-of-eosinophilic-esophagitis-accompanying-familial-mediterranean-fever
#10
Pejman Rohani, Mehri Najafi Sani, Mitra Ahmadi, Vahid Ziaee
Background. Eosinophilic esophagitis is an inflammatory condition where there is a dense infiltration of eosinophils typically exceeding fifteen cells per high power field. Familial Mediterranean fever is an autosomal recessive disorder characterized by brief, acute, and self-limited episodes of fever and polyserositis that recur at irregular intervals. Case Presentation. A three-year-and-nine-month-old Iranian girl was admitted to our center. The patient's parents complained of a history of abdominal pain, poor appetite, and poor weight gain from 1...
2017: Case Reports in Gastrointestinal Medicine
https://www.readbyqxmd.com/read/28229824/normal-arterial-stiffness-in-familial-mediterranean-fever-evidence-for-a-possible-cardiovascular-protective-role-of-colchicine
#11
Olga Kukuy, Avi Livneh, Liran Mendel, Ariel Benor, Eitan Giat, Oleg Perski, Olga Feld, Yonatan Kassel, Ilan Ben-Zvi, Merav Lidar, Eliezer J Holtzman, Adi Leiba
OBJECTIVES: Familial Mediterranean fever (FMF) is an autoinflammatory disorder with episodic and persistent inflammation, which is only partially suppressed by continuous colchicine treatment. While chronic inflammation is considered an important cardiovascular risk factor in many inflammatory disorders, its impact in FMF is still disputed. We measured arterial stiffness, a marker of atherosclerotic cardiovascular disease, in a group of FMF patients, in order to evaluate the cardiovascular consequences of inflammation in FMF and the role of colchicine in their development...
February 9, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28211254/egyptian-tale-from-india-application-of-whole-exome-sequencing-in-diagnosis-of-atypical-familial-mediterranean-fever
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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