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familial Mediterranean fever

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https://www.readbyqxmd.com/read/28926523/familial-mediterranean-fever-is-associated-with-increased-mortality-after-kidney-transplantation-a-19-years-single-center-experience
#1
Hefziba Green, Shelly Lichtenberg, Ruth Rahamimov, Avi Livneh, Avry Chagnac, Eytan Mor, Benaya Rozen-Zvi
BACKGROUND: Current data regarding the outcome of kidney transplantation in patients with familial Mediterranean fever (FMF) who reach end-stage renal disease (ESRD) due to reactive amyloidosis A (AA) are scarce and inconclusive. METHODS: The outcomes of 20 patients with FMF and biopsy-proven AA amyloidosis that were transplanted between 1995 and 2014 were compared with 82 control patients (32 with diabetes mellitus and 50 with nondiabetic kidney disease). Major outcome data included overall patient and graft survivals...
October 2017: Transplantation
https://www.readbyqxmd.com/read/28926322/vitamin-d-status-serum-lipid-concentrations-and-vitamin-d-receptor-vdr-gene-polymorphisms-in-familial-mediterranean-fever
#2
Turan Turhan, Halef Okan Doğan, Nihal Boğdaycioğlu, Nilnur Eyerci, Ahmet Omma, İsmail Sari, Ahmet Yeşilyurt, Yaşar Karaaslan
Vitamin D (VitD) is critical for the regulation of inflammatory processes, and VitD deficiency has been linked to several chronic inflammatory disorders. We aimed to investigate the concentrations of serum 25(OH)D3, lipid parameters, and three known VDR polymorphisms (BsmI, FokI, and TaqI) in patients with Familial Mediterranean fever (FMF), an autosomal recessive autoinflammatory disease. The study included 123 FMF patients and 105 controls. A total of 38 patients were in acute attacks at the time of investigation...
September 18, 2017: Bosnian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/28912780/inflammatory-markers-for-arterial-stiffness-in-cardiovascular-diseases
#3
REVIEW
Ioana Mozos, Clemens Malainer, Jarosław Horbańczuk, Cristina Gug, Dana Stoian, Constantin Tudor Luca, Atanas G Atanasov
Arterial stiffness predicts an increased risk of cardiovascular events. Inflammation plays a major role in large arteries stiffening, related to atherosclerosis, arteriosclerosis, endothelial dysfunction, smooth muscle cell migration, vascular calcification, increased activity of metalloproteinases, extracellular matrix degradation, oxidative stress, elastolysis, and degradation of collagen. The present paper reviews main mechanisms explaining the crosstalk between inflammation and arterial stiffness and the most common inflammatory markers associated with increased arterial stiffness, considering the most recent clinical and experimental studies...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28875601/can-the-thiol-disulfide-imbalance-be-a-predictor-of-colchicine-resistance-in-familial-mediterranean-fever
#4
Ahmet Omma, Sevinc Can Sandikci, Orhan Kücüksahin, Murat Alisik, Ozcan Erel
Familial Mediterranean fever (FMF) is a chronic autoinflammatory condition characterized by fever attacks and recurrent polyserositis. Subclinical inflammation that persists during attack-free periods can result in oxidative stress (OS) damage. Thiol groups bind to reactive oxygen radicals and protect cells and tissues from OS damage. The aim of this study was to investigate the relationship between thiol-disulfide balance and colchicine resistance in FMF patients during an attack or attack-free period. A newly developed spectrophotometric method was used to measure native thiol (NT) and disulfide (DS) levels in FMF patients and an age-sex matched group of healthy controls...
October 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/28868950/comparison-of-serum-inflammatory-cytokine-concentrations-in-familial-mediterranean-fever-and-rheumatoid-arthritis-patients
#5
T Koga, S-Y Kawashiri, K Migita, S Sato, M Umeda, S Fukui, A Nishino, F Nonaka, N Iwamoto, K Ichinose, M Tamai, H Nakamura, T Origuchi, Y Ueki, J Masumoto, K Agematsu, A Yachie, K Eguchi, A Kawakami
No abstract text is available yet for this article.
September 2, 2017: Scandinavian Journal of Rheumatology
https://www.readbyqxmd.com/read/28868300/aa-amyloidosis-and-atypical-familial-mediterranean-fever-with-exon-2-and-3-mutations
#6
Junko Yabuuchi, Noriko Hayami, Junichi Hoshino, Keiichi Sumida, Tatsuya Suwabe, Toshiharu Ueno, Akinari Sekine, Masahiro Kawada, Masayuki Yamanouchi, Rikako Hiramatsu, Eiko Hasegawa, Naoki Sawa, Kenmei Takaichi, Takeshi Fujii, Kenichi Ohashi, Kiyoshi Migita, Takao Masaki, Yoshifumi Ubara
A 54-year-old Japanese man presented with recurrent abdominal pain, fever lasting >5 days, and renal failure. AA amyloidosis was proven by renal and gastric biopsy. Symptoms subsided with the administration of colchicine, but a subsequent recurrence of symptoms did not respond to colchicine. Mediterranean fever gene (MEFV) analysis showed that he was heterozygous for mutations in exon 2 (E148Q/R202Q) and exon 3 (P369S/R408Q), although he had none of the exon 10 mutations known to be closely related to AA amyloidosis...
May 2017: Case Reports in Nephrology and Dialysis
https://www.readbyqxmd.com/read/28863210/alternatively-spliced-mefv-transcript-lacking-exon-2-and-its-protein-isoform-pyrin-2d-implies-an-epigenetic-regulation-of-the-gene-in-inflammatory-cell-culture-models
#7
Gokce Celikyapi Erdem, Sule Erdemir, Irem Abaci, Asli K Kirectepe Aydin, Elif Everest, Eda Tahir Turanli
The function of gene body DNA methylation in alternative splicing, and its relation to disease pathogenesis is not fully elucidated. The gene for familial Mediterranean fever (MEFV) encodes the pyrin protein and contains a 998 bp CpG island, covering the second exon, which is differentially methylated in FMF patients compared to healthy controls. Our further observation of increased exon 2-spliced MEFV transcript in leukocytes of FMF patients provoked us to test the role of exon methylation in alternative splicing using inflammatory cell culture models...
July 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28859624/living-kidney-transplantation-between-brothers-with-unrecognized-renal-amyloidosis-as-the-first-manifestation-of-familial-mediterranean-fever-a-case-report
#8
Ramón Peces, Sara Afonso, Carlos Peces, Julián Nevado, Rafael Selgas
BACKGROUND: Familial Mediterranean fever is an autosomal recessive disease characterized by recurrent episodes of fever and polyserositis and by the onset of reactive amyloid-associated amyloidosis. Amyloidosis due to familial Mediterranean fever can lead to end-stage renal disease, culminating in kidney transplantation for some patients. In this study, we report the clinical outcome of two brothers with familial Mediterranean fever who were the inadvertent donor and recipient, respectively, of a kidney...
August 31, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28859329/familial-mediterranean-fever-in-children-and-adolescents-factors-for-colchicine-dosage-and-predicting-parameters-for-dose-increase
#9
Anne-Marie Knieper, Jens Klotsche, Elke Lainka, Thomas Berger, Frank Dressler, Annette F Jansson, Christoph Rietschel, Prasad T Oommen, Rainer Berendes, Tim Niehues, Ulrich Neudorf, Dirk Foell, Helmut Wittkowski, Tilmann Kallinich
Objectives: The aim was to analyse factors influencing the individual colchicine dose in children with FMF, to evaluate the impact of dose adjustment on the clinical course and inflammation and to identify clinical parameters and biomarkers that predict dose increase in the near future. Methods: Data from 409 paediatric FMF patients (4566 visits) derived from the national auto-inflammatory diseases registry were analysed. Serum concentrations of S100 molecules were determined by ELISA...
September 1, 2017: Rheumatology
https://www.readbyqxmd.com/read/28851278/toscana-virus-meningo-encephalitis-an-important-differential-diagnosis-for-elderly-travellers-returning-from-mediterranean-countries
#10
James Veater, Farhan Mehedi, Chee Kay Cheung, Laura Nabarro, Jane Osborne, Nicholas Wong, Martin Wiselka, Julian W Tang
BACKGROUND: Elderly patients have a long list of differentials for causes of acute confusion and altered consciousness levels, including infectious agents. In addition, elderly, retired patients often have more time to travel for tourism, particularly to exotic, warmer locations. Mediterranean countries such as Spain and Italy are popular holiday destinations for British and other tourists, especially during the winter months. However, these warm climates allow insect vectors to proliferate, increasing the risk of exposure to endemic vectorborne viral infections whilst on vacation...
August 29, 2017: BMC Geriatrics
https://www.readbyqxmd.com/read/28837982/erratum-neurological-manifestations-in-familial-mediterranean-fever-results-of-22-children-from-a-reference-center-in-kayseri-an-urban-area-in-central-anatolia-turkey
#11
Mehmet Canpolat, Hakan Gumus, Zubeyde Gunduz, Ruhan Dusunsel, Sefer Kumandas, Ayşe Kaçar Bayram, Sibel Yel, Hatice Gamze Poyrazoglu, Kenan Yilmaz, Selim Doganay, Ali Yikilmaz, Munis Dundar, Huseyin Per
No abstract text is available yet for this article.
October 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28835462/a-novel-pyrin-associated-autoinflammation-with-neutrophilic-dermatosis-mutation-further-defines-14-3-3-binding-of-pyrin-and-distinction-to-familial-mediterranean-fever
#12
Fiona Moghaddas, Rafael Llamas, Dominic De Nardo, Helios Martinez-Banaclocha, Juan J Martinez-Garcia, Pablo Mesa-Del-Castillo, Paul J Baker, Vanessa Gargallo, Anna Mensa-Vilaro, Scott Canna, Ian P Wicks, Pablo Pelegrin, Juan I Arostegui, Seth L Masters
OBJECTIVE: Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis (PAAND) is a recently described monogenic autoinflammatory disease. The causal p.S242R MEFV mutation disrupts a binding motif of the regulatory 14-3-3 proteins within pyrin. Here, we investigate a family with clinical features consistent with PAAND in whom the novel p.E244K MEFV mutation, located in the +2 site of the 14-3-3 binding motif in pyrin, has been found. METHODS: Multiplex cytokine analyses were performed on p...
August 23, 2017: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/28832953/colchicine-an-ancient-drug-with-novel-applications
#13
REVIEW
B Dasgeb, D Kornreich, K McGuinn, L Okon, I Brownell, D L Sackett
Colchicine is a historic treatment for gout that has been used for more than a millennium. It is the treatment of choice for Familial Mediterranean Fever and its associated complication, amyloidosis. The 2009 FDA approval of colchicine as a new drug had research consequences. Recent investigations utilizing large cohorts of gout patients who have been taking colchicine for years have demonstrated novel applications within oncology, immunology, cardiology and dermatology. Some emerging dermatologic uses include the treatment of epidermolysis bullosa acquisita, leukocytoclastic vasculitis, aphthous stomatitis and others...
August 18, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28828621/familial-mediterranean-fever-in-childhood-a-single-center-experience
#14
Kenan Barut, Sezgin Sahin, Amra Adrovic, Ada Bulut Sinoplu, Gozde Yucel, Gizem Pamuk, Aslı Kirectepe Aydın, Selcuk Dasdemir, Eda Tahir Turanlı, Nur Buyru, Ozgur Kasapcopur
The aim of this study is to present demographic and clinical features, MEFV mutation variations, and treatment response of a large number of pediatric familial Mediterranean fever (FMF) patients from a single tertiary centre. Moreover, we aimed to investigate the current outcome of FMF, namely frequency of amyloidosis in children with FMF. We evaluated 708 FMF patients who were followed up in our clinic and who were under colchicine treatment for at least 6 months. The data were recorded from patient records and also verified by negotiations with patients and parents...
August 21, 2017: Rheumatology International
https://www.readbyqxmd.com/read/28796786/phlebotomine-sand-fly-borne-pathogens-in-the-mediterranean-basin-human-leishmaniasis-and-phlebovirus-infections
#15
REVIEW
Martina Moriconi, Gianluca Rugna, Mattia Calzolari, Romeo Bellini, Alessandro Albieri, Paola Angelini, Roberto Cagarelli, Maria P Landini, Remi N Charrel, Stefania Varani
Pathogens transmitted to humans by phlebotomine sand flies are neglected, as they cause infectious diseases that are not on the priority list of national and international public health systems. However, the infections caused by protozoa of the Leishmania genus and viruses belonging to the Phlebovirus genus (family Phenuiviridae)-the most significant group of viruses transmitted by sand flies-have a relevant role for human pathology. These infections are emerging in the Mediterranean region and will likely spread in forthcoming decades, posing a complex threat to human health...
August 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28781304/cold-exposure-related-fever-with-an-mediterranean-fever-mefv-gene-mutation
#16
Shima Kumei, Tsukasa Nozu, Masumi Ohira, Saori Miyagishi, Toshikatsu Okumura
Familial Mediterranean fever (FMF) is a genetic autoinflammatory disease characterized by recurrent fever with serosal inflammation. We experienced a 53-year-old male who had been suffering from periodic attacks with slight fever and myalgia which were mainly triggered by cold exposure in winter. Although his clinical course did not satisfy the criteria for familial Mediterranean fever, heterozygous E148Q/M694I mutation in the Mediterranean fever (MEFV) gene was detected. Further attacks were prevented by treatment with colchicine...
August 15, 2017: Internal Medicine
https://www.readbyqxmd.com/read/28765740/aortic-flow-propagation-velocity-in-patients-with-familial-mediterranean-fever-an-observational-study
#17
Kayihan Karaman, Arif Arisoy, Aysegul Altunkas, Ertugrul Erken, Ahmet Demirtas, Mustafa Ozturk, Metin Karayakali, Safak Sahin, Atac Celik
BACKGROUND AND OBJECTIVES: Systemic inflammation has an important role in the initiation of atherosclerosis, which is associated with arterial stiffness (AS). Aortic flow propagation velocity (APV) is a new echocardiographic parameter of aortic stiffness. The relationship between systemic inflammation and AS has not yet been described in patients with familial Mediterranean fever (FMF). We aimed to investigate the early markers of AS in patients with FMF by measuring APV and carotid intima-media thickness (CIMT)...
July 2017: Korean Circulation Journal
https://www.readbyqxmd.com/read/28763406/massive-pericardial-effusion-and-tamponade-can-be-a-first-sign-of-familial-mediterranean-fever
#18
Tamer Yoldaş, Şeyma Kayali, İlker Ertuğrul, Vehbi Doğan, Utku Arman Örün, Selmin Karademir
Cardiac involvement is a rare initial presentation of familial Mediterranean fever (FMF). We described 2 children with massive pericardial effusion and cardiac tamponade, who were later diagnosed as having FMF based on clinical and laboratory findings. Therefore, in children presenting with massive pericardial effusion, FMF should be considered as one of the differential diagnoses. In addition, massive pericardial effusion is a serious clinical condition that requires emergency therapeutic approach including pericardiocenthesis...
August 1, 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/28759086/assessment-of-myocardial-repolarisation-parameters-in-patients-with-familial-mediterranean-fever
#19
Kayihan Karaman, Metin Karayakali, Ertuğrul Erken, Ahmet Demirtaş, Mustafa Öztürk, Fatih Altunkaş, Arif Arisoy, Oğuzhan Ekrem Turan, Köksal Ceyhan, Ataç Çelik
BACKGROUND: Familial Mediterranean fever (FMF) is a chronic, recurrent auto-inflammatory disease characterised by self-terminating attacks of fever and sterile polyserositis. The main cause of death in auto-inflammatory diseases is cardiovascular events. Additionally, auto-inflammatory diseases have potential effects on the myocardial repolarisation parameters, including the T-wave peak-to-end (Tp-Te) interval, cTp-Te interval (corrected Tp-Te) and the cTp-Te/QT ratio. The aim of this study was to analyse the efficacy of myocardial repolarisation alterations in anticipation of cardiovascular risks in patients with FMF...
May 2017: Cardiovascular Journal of Africa
https://www.readbyqxmd.com/read/28752409/-il-1-blockade-with-anakinra-during-pregnancy-retrospective-analysis-of-efficacy-and-safety-in-female-patients-with-familial-mediterranean-fever
#20
N Venhoff, R E Voll, C Glaser, J Thiel
OBJECTIVE: To retrospectively assess and analyze the clinical efficacy and safety of off-label interleukin-1 (IL-1) blockade with anakinra during pregnancy of patients with familial Mediterranean fever (FMF). METHODS: Retrospective analysis of clinical and laboratory parameters making use of an electronic database system. Detailed descriptions of the genotype and phenotype of FMF are given and the course of the pregnancy and fetal development are reported. RESULTS: The data of three patients and a total of four pregnancies under treatedment with anakinra were analyzed...
July 27, 2017: Zeitschrift Für Rheumatologie
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