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familial Mediterranean fever

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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
#1
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
#2
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
#3
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
#4
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...
December 27, 2016: Anti-cancer Drugs
https://www.readbyqxmd.com/read/28018446/familial-mediterranean-fever-presenting-as-fever-of-unknown-origin-in-korea
#5
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
#6
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
https://www.readbyqxmd.com/read/28001092/familial-mediterranean-fever-with-p369s-r408q-exon3-variant-in-pyrin-presenting-as-symptoms-of-pfapa
#7
Keiko Yamagami, Tomoyuki Nakamura, Ryota Nakamura, Yusuke Hanioka, Kaori Seki, Hiroshi Chiba, Keiko Kobayashi, Kazunaga Agematsu
Familial Mediterranean fever (FMF) can be classified into typical and incomplete/atypical types. Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) syndrome-like symptoms has been found in atypical type carrying P369S-R408Q mutations in the responsible gene MEFV. A 28-year-old female with recurrent fever and her young sisters and mother, all of whom had tonsillectomy for tonsillitis, carried heterozygous alterations involving E148Q/P369S/R408Q. A diagnosis of atypical FMF, MEFV exon3 variants with PFAPA syndrome-like symptoms, was made...
December 21, 2016: Modern Rheumatology
https://www.readbyqxmd.com/read/27998728/il-1%C3%AE-and-caspase-1-drive-autoinflammatory-disease-independently-of-il-1%C3%AE-or-caspase-8-in-a-mouse-model-of-familial-mediterranean-fever
#8
Deepika Sharma, Bhesh Raj Sharma, Peter Vogel, Thirumala-Devi Kanneganti
Mutations in the gene encoding pyrin are associated with autoinflammatory disorder Familial Mediterranean Fever (FMF). A FMF-knock-in mouse strain that expresses chimeric pyrin protein with a V726A mutation (Mefv(V726A/V726A)) was generated to model human FMF. This mouse strain shows an autoinflammatory disorder that is prevented by genetic deletion of IL-1 (IL-1) receptor or apoptosis-associated speck-like protein containing a CARD (ASC). ASC-mediated cell death leads to the release of IL-1α and IL-1β, both of which signal through IL-1 receptor...
December 17, 2016: American Journal of Pathology
https://www.readbyqxmd.com/read/27994174/evidence-of-digenic-inheritance-in-autoinflammation-associated-genes
#9
Vassos Neocleous, Stefania Byrou, Meropi Toumba, Constantina Costi, Christos Shammas, Christina Kyriakou, Violetta Christophidou-Anastasiadou, George A Tanteles, Adamos Hadjipanayis, Leonidas A Phylactou
Familial Mediterranean fever (FMF) has traditionally been considered as a monogenic autosomal recessive disorder caused by mutations in the MEFV gene with highest incidence among Mediterranean populations. In a considerable number of patients with typical FMF, only one MEFV mutation was identified and the possibility that more than one autoinflammatory gene may be responsible for their disease was investigated. In the present study, an extensive search for possible mutations in three hereditary recurrent fever (HRF) genes was performed in 128 MEFV heterozygous Greek-Cypriots clinically diagnosed based on their phenotype with FMF-like disease from a previous study...
December 2016: Journal of Genetics
https://www.readbyqxmd.com/read/27983684/lung-involvement-in-children-with-hereditary-autoinflammatory-disorders
#10
REVIEW
Giusyda Tarantino, Susanna Esposito, Laura Andreozzi, Benedetta Bracci, Francesca D'Errico, Donato Rigante
Short-lived systemic inflammatory reactions arising from disrupted rules in the innate immune system are the operating platforms of hereditary autoinflammatory disorders (HAIDs). Multiple organs may be involved and aseptic inflammation leading to disease-specific phenotypes defines most HAIDs. Lungs are infrequently involved in children with HAIDs: the most common pulmonary manifestation is pleuritis in familial Mediterranean fever (FMF) and tumor necrosis factor receptor-associated periodic syndrome (TRAPS), respectively caused by mutations in the MEFV and TNFRSF1A genes, while interstitial lung disease can be observed in STING-associated vasculopathy with onset in infancy (SAVI), caused by mutations in the TMEM173 gene...
December 15, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27976551/serum-vitamin-d-levels-during-activation-and-remission-periods-of-patients-with-juvenile-idiopathic-arthritis-and-familial-mediterranean-fever
#11
Aydilek Dağdeviren-Çakır, Ahmet Arvas, Kenan Barut, Emel Gür, Özgür Kasapçopur
The aim of this study was to determine the frequency of vitamin D deficiency and/or insufficiency in children with juvenile idiopathic arthritis (JIA) and familial Mediterranean fever (FMF) and to assess the relationship between vitamin D and disease activity. Sixty four patients with JIA, thirty six patients with FMF and one hundred healthy children were enrolled in this study. Vitamin D levels were measured during activation and remission periods in the patients with JIA and during attack and attack free periods in the patients with FMF...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27956278/the-m694i-m694i-genotype-a-genetic-risk-factor-of-aa-amyloidosis-in-a-group-of-algerian-patients-with-familial-mediterranean-fever
#12
Djouher Ait-Idir, Bahia Djerdjouri, Faiza Bouldjennet, Rowaida Z Taha, Hatem El-Shanti, Rawda Sari-Hamidou, Ghalia Khellaf, Mustapha Benmansour, Mohamed Benabadji, Farid Haddoum
Familial Mediterranean fever (FMF, OMIM 249100) is the most common hereditary fever, resulting from mutations in MEFV. FMF is characterized by episodic febrile attacks and polyserositis. Renal AA-amyloidosis is a major complication, which often leads to end-stage renal disease in untreated patients. The data about the renal AA-amyloidosis secondary to FMF are scarce in North African countries and non-existent in Algeria. We aimed to investigate the MEFV mutations associated with this complication in an Algerian patient cohort...
December 10, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27951538/colchicine-in-renal-medicine-new-virtues-of-an-ancient-friend
#13
Yalcin Solak, Dimitrie Siriopol, Abdulmecit Yildiz, Mahmut Ilker Yilmaz, Alberto Ortiz, Adrian Covic, Mehmet Kanbay
Colchicine is a plant-derived alkaloid that disrupts the cell microtubule system and accumulates in neutrophils, inhibiting neutrophil adhesion and recruitment. Colchicine has been used extensively in the prevention and treatment of gouty arthritis attacks, familial Mediterranean fever attacks and resultant AA amyloidosis, and recurrent pericarditis. Colchicine also disrupts the intracellular traffic of additional inflammatory and fibrosis mediators. Renal fibrosis is the final common pathway of chronic renal disease...
December 13, 2016: Blood Purification
https://www.readbyqxmd.com/read/27917225/abdominal-epilepsy-as-an-unusual-cause-of-abdominal-pain-a-case-report
#14
Yilmaz Yunus, Ustebay Sefer, Ulker Ustebay Dondu, Ozanli Ismail, Ehi Yusuf
INTRODUCTION: Abdominal pain, in etiology sometimes difficult to be defined, is a frequent complaint in childhood. Abdominal epilepsy is a rare cause of abdominal pain. OBJECTIVES: In this article, we report on 5 year old girl patient with abdominal epilepsy. METHODS: Some investigations (stool investigation, routine blood tests, ultrasonography (USG), electrocardiogram (ECHO) and electrocardiograpy (ECG), holter for 24hr.) were done to understand the origin of these complaints; but no abnormalities were found...
September 2016: African Health Sciences
https://www.readbyqxmd.com/read/27911804/familial-mediterranean-fever-mutations-lift-the-obligatory-requirement-for-microtubules-in-pyrin-inflammasome-activation
#15
Hanne Van Gorp, Pedro H V Saavedra, Nathalia M de Vasconcelos, Nina Van Opdenbosch, Lieselotte Vande Walle, Magdalena Matusiak, Giusi Prencipe, Antonella Insalaco, Filip Van Hauwermeiren, Dieter Demon, Delfien J Bogaert, Melissa Dullaers, Elfride De Baere, Tino Hochepied, Joke Dehoorne, Karim Y Vermaelen, Filomeen Haerynck, Fabrizio De Benedetti, Mohamed Lamkanfi
Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease worldwide. It is caused by mutations in the inflammasome adaptor Pyrin, but how FMF mutations alter signaling in FMF patients is unknown. Herein, we establish Clostridium difficile and its enterotoxin A (TcdA) as Pyrin-activating agents and show that wild-type and FMF Pyrin are differentially controlled by microtubules. Diverse microtubule assembly inhibitors prevented Pyrin-mediated caspase-1 activation and secretion of IL-1β and IL-18 from mouse macrophages and human peripheral blood mononuclear cells (PBMCs)...
December 13, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27909774/evaluation-of-upper-abdominal-organs-with-dwi-in-patients-with-familial-mediterranean-fever
#16
Eda Albayrak, Safak Sahin
PURPOSE: To investigate the diagnostic efficiency of diffusion-weighted magnetic resonance imaging (DWI) for the evaluation of functional changes that can occur in upper abdominal organs in patients with familial Mediterranean fever (FMF). METHODS: The study included 50 controls, 45 patients with FMF, and 14 patients with FMF who had accompanying proteinuria. Measurement of apparent diffusion coefficient (ADC) was performed using DWI sections obtained from liver, spleen, kidney, and pancreas parenchyma with 1...
December 2, 2016: Abdominal Radiology
https://www.readbyqxmd.com/read/27908310/vitamin-d-levels-in-children-with-familial-mediterranean-fever
#17
Hatice Onur, Ozgur Kasapcopur
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November 10, 2016: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/27906444/letter-to-the-editor-arrhythmic-risk-evaluation-in-familial-mediterranean-fever-the-role-of-electrocardiographic-and-echocardiographic-parameters
#18
V Russo, A Rago, F Di Meo, A A Papa, G Nigro
No abstract text is available yet for this article.
November 2016: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/27886801/approach-to-the-patients-with-inadequate-response-to-colchicine-in-familial-mediterranean-fever
#19
REVIEW
Ahmet Gül
Familial Mediterranean fever (FMF) is the most common form of monogenic autoinflammatory conditions, and response to colchicine has been considered as one of its distinctive features among other hereditary periodic fever disorders. Prophylactic colchicine has been shown to be effective in the prevention of inflammatory attacks and development of amyloidosis. However, the highest tolerable doses of colchicine may not be adequate enough to manage these goals in approximately 5% of FMF patients. Inadequate response to colchicine in fully compliant FMF patients may be associated with genetic and/or environmental factors affecting disease severity and colchicine bioavailability...
April 2016: Best Practice & Research. Clinical Rheumatology
https://www.readbyqxmd.com/read/27860460/anakinra-for-colchicine-resistant-familial-mediterranean-fever-a-randomized-double-blind-placebo-controlled-trial
#20
Ilan Ben-Zvi, Olga Kukuy, Eitan Giat, Elon Pras, Olga Feld, Shaye Kivity, Senior Lecturer, Oleg Perski, Gil Bornstein, Chagai Grossman, Gil Harari, Merav Lidar, Avi Livneh
Objective - Familial Mediterranean fever (FMF) is refractory to colchicine prophylaxis in 10-20% of patients. A patient series showed anakinra, an IL-1 blocking agent, to prevent FMF attacks in colchicine-resistant FMF (CRFMF). Here we studied the efficacy and safety of anakinra in the treatment of CRFMF, using a randomized controlled trial. Methods - CRFMF patients receiving colchicine (≥1.5 to ≤3 mg/day) were recruited and randomly assigned to receive anakinra or placebo (vehicle). Treatment duration was 4 months...
November 11, 2016: Arthritis & Rheumatology
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