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familial Mediterranean fever

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https://www.readbyqxmd.com/read/27917225/abdominal-epilepsy-as-an-unusual-cause-of-abdominal-pain-a-case-report
#1
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
#2
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)...
November 22, 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
#3
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
#4
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
#5
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
#6
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
#7
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
https://www.readbyqxmd.com/read/27860302/clinical-and-genetic-association-radiological-findings-and-response-to-biological-therapy-in-seven-children-from-qatar-with-non-bacterial-osteomyelitis
#8
Taha Moussa, Venkatraman Bhat, Vishwanatha Kini, Basil M Fathalla
AIM: We aim to report the clinical manifestations, genetic testing results, magnetic resonance imaging (MRI) findings and biologics used in the management of non-bacterial osteomyelitis in our center. METHODS: We conducted a retrospective review of medical records. A previously proposed classification was implemented as follows: chronic recurrent multifocal osteomyelitis (CRMO), chronic non-bacterial osteomyelitis (CNBO) and acute non-bacterial osteomyelitis. RESULTS: Four females and three males with a median age at presentation of 6 years (6 months-14 years) presented with arthralgia (7/7), back pain (4/7), arthritis (4/7) and bone pain (2/7)...
November 9, 2016: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/27858841/marshall-syndrome-in-a-young-child-a-reality-case-report
#9
Laura Mihaela Trandafir, Madalina Ionela Chiriac, Smaranda Diaconescu, Ileana Ioniuc, Ingrith Miron, Daniel Rusu
BACKGROUND: Recurrent fever syndrome, known as the Marshall syndrome (MS), is a clinical entity that includes several clinical features, such as: fever (39-40°C) that occurs repeatedly at variable intervals (3-8 weeks) and in episodes of 3 to 6 days, cervical adenopathy, pharyngitis, and aphthous stomatitis. The diagnosis of MS is one of exclusions; laboratory data is nonspecific and no abnormalities correlated with MS have been detected thus far. METHODS: The authors report the case of a 2-year-old girl admitted to a tertiary pediatric center for repeated episodes of fever with aphthous stomatitis and laterocervical adenopathy...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27828627/inflammasomes-and-dermatology
#10
Daniel Coelho de Sá, Cyro Festa
Inflammasomes are intracellular multiprotein complexes that comprise part of the innate immune response. Since their definition, inflammasome disorders have been linked to an increasing number of diseases. Autoinflammatory diseases refer to disorders in which local factors lead to the activation of innate immune cells, causing tissue damage when in the absence of autoantigens and autoantibodies. Skin symptoms include the main features of monogenic inflammasomopathies, such as Cryopyrin-Associated Periodic Syndromes (CAPS), Familial Mediterranean Fever (FMF), Schnitzler Syndrome, Hyper-IgD Syndrome (HIDS), PAPA Syndrome, and Deficiency of IL-1 Receptor Antagonist (DIRA)...
September 2016: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/27822927/decreased-chitotriosidase-activity-and-levels-in-familial-mediterranean-fever
#11
Halef Okan Doğan, Ahmet Omma, Turan Turhan, Nihal Boğdaycıoğlu, Yaşar Karaaslan, Hayrettin Yavuz, Özlem Demirpençe, Hüseyin Aydın, Sevtap Bakır
Different studies have demonstrated changes in chitotriosidase (ChT) activity and concentrations in multiple diseases. However, changes in ChT activity and concentrations have not been concurrently evaluated in patients with Familial Mediterranean Fever (FMF). In this study, we analyzed the changes in serum ChT activity and concentrations in patients with FMF. The study included a total of 80 patients with FMF and 80 healthy controls. ChT enzyme activity and concentrations were measured and then compared between the groups...
December 2016: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/27811147/development-of-the-autoinflammatory-disease-damage-index-addi
#12
Nienke M Ter Haar, Kim V Annink, Sulaiman M Al-Mayouf, Gayane Amaryan, Jordi Anton, Karyl S Barron, Susanne M Benseler, Paul A Brogan, Luca Cantarini, Marco Cattalini, Alexis-Virgil Cochino, Fabrizio De Benedetti, Fatma Dedeoglu, Adriana A De Jesus, Ornella Della Casa Alberighi, Erkan Demirkaya, Pavla Dolezalova, Karen L Durrant, Giovanna Fabio, Romina Gallizzi, Raphaela Goldbach-Mansky, Eric Hachulla, Veronique Hentgen, Troels Herlin, Michaël Hofer, Hal M Hoffman, Antonella Insalaco, Annette F Jansson, Tilmann Kallinich, Isabelle Koné-Paut, Anna Kozlova, Jasmin B Kuemmerle-Deschner, Helen J Lachmann, Ronald M Laxer, Alberto Martini, Susan Nielsen, Irina Nikishina, Amanda K Ombrello, Seza Ozen, Efimia Papadopoulou-Alataki, Pierre Quartier, Donato Rigante, Ricardo Russo, Anna Simon, Maria Trachana, Yosef Uziel, Angelo Ravelli, Marco Gattorno, Joost Frenkel
OBJECTIVES: Autoinflammatory diseases cause systemic inflammation that can result in damage to multiple organs. A validated instrument is essential to quantify damage in individual patients and to compare disease outcomes in clinical studies. Currently, there is no such tool. Our objective was to develop a common autoinflammatory disease damage index (ADDI) for familial Mediterranean fever, cryopyrin-associated periodic syndromes, tumour necrosis factor receptor-associated periodic fever syndrome and mevalonate kinase deficiency...
November 3, 2016: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/27810100/familial-mediterranean-fever-diagnostic-difficulties-in-an-atypical-case
#13
L Loidi Pascual, M Larrea García, C Llanos Chávarri, J I Yanguas Bayona
No abstract text is available yet for this article.
October 31, 2016: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/27791953/familial-mediterranean-fever-gene-mutation-frequencies-in-a-sample-turkish-population
#14
Oguz Soylemezoglu, Yasar Kandur, Sevim Gonen, Ali Düzova, Zeynep Birsin Özçakar, Kibriya Fidan, Fatos Yalcinkaya
OBJECTIVES: Our knowledge about the frequencies of mutations in the Turkish population is based on the studies on the affected patients and hospital-based control groups. We aimed to determine the frequencies of MEFV gene mutations in a population-based field study in Turkey. METHODS: Turkish citizens aged between 5 and 65 years were included in the study. Cities from seven regions of Turkey were studied. Blood samples were obtained from individuals who gave permission for laboratory experiments, and they were analysed for 10 MEFV gene mutations...
September 2016: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/27791951/mefv-and-saa1-genotype-associations-with-clinical-features-of-familial-mediterranean-fever-and-amyloidosis-in-armenia
#15
Stepan Atoyan, Hasmik Hayrapetyan, Tamara Sarkisian, Eldad Ben-Chetrit
OBJECTIVES: Familial Mediterranean fever (FMF) is a hereditary periodic disease characterised by recurrent attacks of fever and serositis. The most devastating complication of FMF is amyloidosis (AA) affecting mainly the kidneys. Aim of the study is to search for correlations between the MEFV genotype and the SAA polymorphisms with the clinical manifestations of FMF and the occurrence of amyloidosis in a large cohort of Armenian patients. METHODS: Information about the MEFV mutations, SAA polymorphisms and FMF clinical features, were obtained for 1017 FMF patients, from the database of the Center of Medical Genetics in Yerevan...
September 2016: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/27790798/higher-pentraxin-3-levels-are-associated-with-inflammation-in-familial-mediterranean-fever
#16
Mesudiye Bulut, Mevlut Ceri, Selman Unverdi, Mustafa Altay, Mehmet Senes, Zafer Aydın Ecemis, Murat Duranay
BACKGROUND: Circulating levels of Pentraxin-3 (PTX3) have been shown to increase in several inflammatory conditions. However, there is no information about the levels of PTX3 in patients with familial Mediterranean fever (FMF). This study was designed to evaluate the serum PTX3 levels in patients with FMF during attack and free-attack periods. METHODS: Twenty FMF patients in attack and free-attack period, and 20 age-, sex-, and body mass index-matched healthy controls were included in the study...
November 2016: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/27787337/approach-to-cutaneous-vasculitides-with-special-emphasis-on-small-vessel-vasculitis-histopathology-and-direct-immunofluorescence
#17
Cuyan Demirkesen
PURPOSE OF REVIEW: The present review will focus on recent publications in cutaneous vasculitides. RECENT FINDINGS: Some histopathological and clinical features, such as papillary dermal edema, perivascular C3 deposition, clinically evident edema, and lesions above the waist, may point out renal or gastrointestinal involvement in Henoch-Schönlein purpura (HSP). HSP associated with familial Mediterranean fever differs from typical isolated HSP by showing no deposits of IgA, much younger age, and location of the lesions on the face or the trunk...
January 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/27782864/familial-mediterranean-fever-patients-may-have-unmet-need-for-treatment-of-erysipelas-like-erythema
#18
Mehmet Engin Tezcan
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October 25, 2016: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/27776949/beh%C3%A3-et-s-disease%C3%A2-and-fmf-two-sides-of-the-same-coin-or-just-an-association-a-cross-sectional-study%C3%A2
#19
Abdulla Watad, Shmuel Tiosano, Dana Yahav, Doron Comaneshter, Yehuda Shoenfeld, Arnon D Cohen, Howard Amital
BACKGROUND: Familial Mediterranean fever (FMF) is a genetic disease, characterized by attacks of fever, arthritis, serositis and pain. Behçet's disease (BD) is an inflammatory disorder with a genetic basis, characterized by oral and genital ulcers, uveitis, pustular erythematous cutaneous lesions, arthritis, central nervous system involvement and possible vascular manifestations such as venous thrombosis, arteritis and aneurysms. OBJECTIVES: To investigate the association and actual differentiation between these two entities in a large-scale population-based study...
October 21, 2016: European Journal of Internal Medicine
https://www.readbyqxmd.com/read/27776765/evaluation-of-the-effectiveness-of-acupuncture-therapy-by-verbal-pain-scale-in-patients-with-abdominal-pain-of-familial-mediterranean-fever
#20
Sinan Becel, Yılmaz Sezgin, Fatih Akçay
In this study, we evaluated the effectiveness of acupuncture therapy based on Verbal Pain Scale (VPS) scores in familial Mediterranean fever (FMF) patients admitted to the emergency department with attacks of abdominal pain. This observational study was conducted in Erzurum Regional Training and Research Hospital between August 2014 and December 2014. Twenty patients admitted to the emergency department with FMF attacks were included in the study. Acupuncture therapy was applied to three points including LI4 (Hegu), ST25 (Tianshu), and Ren12 (Zhongwan)...
October 2016: Journal of Acupuncture and Meridian Studies
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