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familial Mediterranean fever

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https://www.readbyqxmd.com/read/29775082/profile-of-renal-aa-amyloidosis-in-older-and-younger-individuals-a-single-centre-experience
#1
Siyar Erdogmus, Zeynep Kendi Celebi, Serkan Akturk, Gizem Kumru, Neval Duman, Kenan Ates, Sehsuvar Erturk, Gokhan Nergizoglu, Sim Kutlay, Sule Sengul, Kenan Keven
OBJECTIVE: In epidemiological studies of amyloid A (AA) amyloidosis from Turkey, the most frequently cause was familial Mediterranean fever (FMF) and it occurs generally in young age population. However, there are no sufficient data regarding aetiology, clinical presentation and prognosis of renal AA amyloidosis in advanced age patients. In this study, we aimed to investigate demographic, clinical presentation, aetiology and outcomes of adults aged 60 years or older patients with biopsy-proven renal AA amyloidosis...
May 18, 2018: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/29773081/long-term-familial-mediterranean-fever-remission-on-successful-hepatitis-c-virus-treatment-in-a-patient-not-responding-to-colchicine-a-case-report
#2
Manik Gemilyan, Gagik Hakobyan, Susanna Ananyan
BACKGROUND: Familial Mediterranean fever is an autosomal recessive disorder characterized by periodic febrile attacks of aseptic serositis and/or arthritis. The main treatment is colchicine which prevents attacks in the majority of patients except for a group of colchicine-resistant cases. Chronic hepatitis C is a viral infection causing chronic inflammation of liver tissue (hepatitis) which ultimately progresses to fibrosis and liver cirrhosis with a high chance of hepatocellular carcinoma...
May 18, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29768139/canakinumab-for-the-treatment-of-autoinflammatory-recurrent-fever-syndromes
#3
Fabrizio De Benedetti, Marco Gattorno, Jordi Anton, Eldad Ben-Chetrit, Joost Frenkel, Hal M Hoffman, Isabelle Koné-Paut, Helen J Lachmann, Seza Ozen, Anna Simon, Andrew Zeft, Inmaculada Calvo Penades, Michel Moutschen, Pierre Quartier, Ozgur Kasapcopur, Anna Shcherbina, Michael Hofer, Philip J Hashkes, Jeroen Van der Hilst, Ryoki Hara, Segundo Bujan-Rivas, Tamas Constantin, Ahmet Gul, Avi Livneh, Paul Brogan, Marco Cattalini, Laura Obici, Karine Lheritier, Antonio Speziale, Guido Junge
BACKGROUND: Familial Mediterranean fever, mevalonate kinase deficiency (also known as the hyperimmunoglobulinemia D syndrome), and the tumor necrosis factor receptor-associated periodic syndrome (TRAPS) are monogenic autoinflammatory diseases characterized by recurrent fever flares. METHODS: We randomly assigned patients with genetically confirmed colchicine-resistant familial Mediterranean fever, mevalonate kinase deficiency, or TRAPS at the time of a flare to receive 150 mg of canakinumab subcutaneously or placebo every 4 weeks...
May 17, 2018: New England Journal of Medicine
https://www.readbyqxmd.com/read/29762881/colchicine-a-microtubule-disassembling-drug-in-the-therapy-of-cardiovascular-diseases
#4
George N Chaldakov
Colchicum autumnale, from which colchicine has been isolated more than 100 years ago, has been used as a treatment for pain and swelling for thousands of years. It is one of the few drugs known from that time period whose use has survived to modernity. Over the past decades, advances in the knowledge of (i) cytoskeletal microtubules (МТ), and (ii) anti-inflammatory and anti-fibrotic effects of colchicine, a classical MT-disassembling (tubulin-targeting) agent, have led to potential new uses for this very old drug extended beyond acute gouty arthritis and familial Mediterranean fever...
May 15, 2018: Cell Biology International
https://www.readbyqxmd.com/read/29761911/the-evaluation-of-salivary-oxidative-stress-in-patients-with-familial-mediterranean-fever-and-chronic-periodontitis
#5
Gözde Dinç, Özlem Fentoğlu, Atalay Doğru, İlter İlhan, F Yeşim Kırzıoğlu, Hikmet Orhan
BACKGROUND: Familial Mediterranean fever (FMF) is an inherent autoinflammatory disease and have a high prevalence in Mediterranean countries. The aim of this study was to evaluate salivary levels of oxidative stress parameters in patients with FMF and chronic periodontitis. METHODS: The study population consists of 81 patients with FMF and 85 systemically healthy controls. The test and control groups were classified as chronic periodontitis and periodontally healthy [FMF-periodontitis (n = 37); FMF-periodontally healthy (n = 44); systemically healthy-periodontitis (n = 37); systemically and periodontally healthy (n = 48]...
May 15, 2018: Journal of Periodontology
https://www.readbyqxmd.com/read/29742059/autoinflammatory-diseases-as-a-cause-of-acute-abdominal-pain-in-the-emergency-department
#6
REVIEW
Giovanni Maconi, Laura Obici, Stefania Carmagnola, Stefano Guzzetti
Autoinflammatory diseases (AIDs) usually present with acute abdominal pain and fever, both of which are also the main causes of referral in the emergency department. As some patients with acute abdominal pain may be discharged from the emergency department without a definitive diagnosis, it is not surprising that, due to their rarity, most cases of AID remain undiagnosed or are misdiagnosed as acute appendicitis. Indeed, the diagnosis of familial Mediterranean fever and autoinflammatory syndromes requires a high index of suspicion and careful assessment of clinical history...
January 2018: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29735907/the-frequency-of-mefv-gene-mutations-and-genotypes-in-sanliurfa-province-south-eastern-region-of-turkey-after-the-syrian-civil-war-by-using-next-generation-sequencing-and-report-of-a-novel-exon-4-mutation-i423t
#7
Evren Gumus
BACKGROUND: Familial Mediterranean Fever (FMF) is a genetic disorder characterized by recurrent episodes of fever and abdominal pain. Mutations in the Mediterranean fever (MEFV) gene are localized on the p arm of chromosome 16. Over 333 MEFV sequence variants have been identified so far in FMF patients, which occur mostly in the 2nd and 10th exons of the gene. METHODS: In this study, 296 unrelated patients with clinical suspicion of FMF, which were admitted during January⁻December 2017, were retrospectively reviewed to identify the frequency of MEFV gene mutations by using next generation sequencing...
May 7, 2018: Journal of Clinical Medicine
https://www.readbyqxmd.com/read/29713855/case-report-acute-hydrops-and-spontaneous-corneal-perforation-in-a-patient-with-keratoconus-treated-with-colchicine-for-familial-mediterranean-fever
#8
Assaf Hilely, Guy Kleinmann
PURPOSE: To report a rare case of spontaneous corneal perforation after hydrops in keratoconus patients who suffer from familial Mediterranean fever and was treated systemically with Colchicine. METHODS: Case report. RESULTS: We report a case of a 30-year-old male with keratoconus and familial Mediterranean fever treated with colchicine, presented with acute hydrops in his left eye, which progressed to a spontaneous corneal perforation. Attempts to treat the perforation with cyanoacrylate glue failed, and he underwent penetrating keratoplasty with an excellent visual outcome...
April 30, 2018: International Ophthalmology
https://www.readbyqxmd.com/read/29683194/clinical-experience-with-multigene-carrier-panels-in-the-reproductive-setting
#9
Catherine Terhaar, Nicole Teed, Rachel Allen, Lindsay Dohany, Christina Settler, Carol Holland, Ryan E Longman
OBJECTIVES: Expanded carrier testing is acknowledged as an acceptable strategy for carrier testing by the American College of Obstetrics and Gynecology. Limited studies have investigated positivity rates of expanded carrier panels. We describe our experience with three commercial laboratory panels varying in size from 3 to 218 disorders. METHODS: We reviewed outcomes for three multigene carrier screening panels: Trio (3 diseases), Standard (23 diseases), and Global (218 diseases)...
April 23, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29670336/transethosomal-gels-as-carriers-for-the-transdermal-delivery-of-colchicine-statistical-optimization-characterization-and-ex-vivo-evaluation
#10
Ibrahim M Abdulbaqi, Yusrida Darwis, Reem Abou Assi, Nurzalina Abdul Karim Khan
Introduction: Colchicine is used for the treatment of gout, pseudo-gout, familial Mediterranean fever, and many other illnesses. Its oral administration is associated with poor bioavailability and severe gastrointestinal side effects. The drug is also known to have a low therapeutic index. Thus to overcome these drawbacks, the transdermal delivery of colchicine was investigated using transethosomal gels as potential carriers. Methods: Colchicine-loaded transethosomes (TEs) were prepared by the cold method and statistically optimized using three sets of 24 factorial design experiments...
2018: Drug Design, Development and Therapy
https://www.readbyqxmd.com/read/29664424/lipid-profile-and-atherogenic-indices-and-their-association-with-platelet-indices-in-familial-mediterranean-fever
#11
Gökhan Çakırca, Muhammet Murat Çelik
OBJECTIVE: The aim of this study was to investigate lipid profiles and atherogenic indices and their association with platelet indices in Familial Mediterranean Fever (FMF) patients. METHODS: A total of 63 FMF patients and 51 healthy individuals were included in this retrospective study. Inflammatory marker values (erythrocyte sedimentation rate [ESR], C-reactive protein [CRP] and fibrinogen), platelet indices (mean platelet volume, plateletcrit value, platelet large cell ratio, and platelet distribution width), lipid profiles (levels of total cholesterol, triglycerides, high-density lipoprotein [HDL] cholesterol, and low-density lipoprotein cholesterol) were recorded...
April 2018: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://www.readbyqxmd.com/read/29663815/canakinumab-as-monotherapy-for-treatment-of-familial-mediterranean-fever-first-report-in-central-and-eastern-europe-region
#12
M Jesenak, K Hrubiskova, L Kapustova, M Kostkova, P Banovcin
Autoinflammatory disorders (AID) are characterized by spontaneous attacks of acute inflammation with a broad spectrum of clinical symptoms. Ongoing inflammation and reoccurrence of acute flares can lead to the development of amyloidosis. One group of AID is represented by monogenic periodic fever syndromes while familial Mediterranean fever (FMF) is the most common form of AID from this group. Its prevalence in Central and Eastern Europe was reported to be very low. We report a case of FMF patient with a very severe clinical course of FMF and intolerance to colchicine, which is a gold standard for FMF treatment...
2018: Bratislavské Lekárske Listy
https://www.readbyqxmd.com/read/29611726/increased-circulating-endothelial-microparticles-in-children-with-fmf
#13
Sibel Yel, İsmail Dursun, Feyza Şahiner, Funda Baştuğ, Sebahat Tülpar, Ruhan Düşünsel, Zübeyde Gündüz, Hakan Poyrazoğlu, Kenan Yılmaz
OBJECTIVE: Endothelial microparticles (EMPs) are considered as markers of endothelial dysfunction. In this study, we aimed to examine whether there is endothelial dysfunction in children with Familial Mediterranean Fever (FMF), hypothesizing that endothelial dysfunction would be present especially with acute phase response in the active period of the disease. METHODS: This cross-sectional study included 65 FMF patients (41 attack free, 24 attack period) and 35 healthy controls...
April 3, 2018: Biomarkers: Biochemical Indicators of Exposure, Response, and Susceptibility to Chemicals
https://www.readbyqxmd.com/read/29596210/sacroiliitis-in-children-with-familial-mediterranean-fever
#14
Fatma Aydin, Z Birsin Özçakar, Nilgün Çakar, Elif Çelikel, Nermin Uncu, Banu Çelikel Acar, Fatoş Yalçinkaya
BACKGROUND/OBJECTIVE: Familial Mediterranean fever (FMF) is an autosomal recessive disease, characterized by recurrent, self-limited attacks of fever with serositis. Various diseases were reported to be associated with FMF. The aim of this study was to investigate the frequency and characteristics of sacroiliitis in children with FMF. METHODS: Files of FMF patients who had been seen in 2 reference hospitals in Ankara were retrospectively evaluated. Patients with FMF and concomitant sacroiliitis were included to the study...
March 29, 2018: Journal of Clinical Rheumatology: Practical Reports on Rheumatic & Musculoskeletal Diseases
https://www.readbyqxmd.com/read/29578360/efficacy-and-safety-of-interleukin-1-inhibitors-in-familial-mediterranean-fever-patients-complicated-with-amyloidosis
#15
Özkan Varan, Hamit Kucuk, Hakan Babaoglu, Serdar Can Guven, Mehmet Akif Ozturk, Seminur Haznedaroglu, Berna Goker, Abdurrahman Tufan
Absract Background: Colchicine is the mainstay of the treatment of familial Mediterranean fever (FMF). However, 10% of FMF patients do not respond well to colchicine. Efficacy of IL-1 inhibitors in reducing attacks have been demonstrated in colchicine resistant FMF (crFMF) patients recently. Colchicine is still the only approved drug for the prevention of amyloidosis in FMF and utility of IL-1 inhibitors in crFMF cases who already has amyloidosis remain to be elucidated. Herein, we evaluated efficacy and safety of IL-1 inhibitors in patients with crFMF-associated AA amyloidosis in a relatively large single center study...
March 26, 2018: Modern Rheumatology
https://www.readbyqxmd.com/read/29575132/complex-formation-dynamics-of-native-and-mutated-pyrin-s-b30-2-domain-with-caspase-1
#16
Grigor Arakelov, Vahram Arakelov, Karen Nazaryan
Pyrin protein is the product of the MEFV gene, mutations in which cause manifestation of Familial Mediterranean Fever (FMF). Functions of pyrin are not completely clear. The secondary structure of the pyrin is represented with four domains and two motifs. Mutations p.M680I, p.M694V, p.M694I, p.K695R, p.V726A and p.A744S, which are located in the B30.2 domain of pyrin protein, are responsible for manifestation of the most common and severe forms of FMF. All the domains and the motifs of pyrin, are directly or indirectly, involved in the protein-protein interaction with proteins of apoptosis and regulate the cascade of inflammatory reactions, which is impaired due to pyrin mutations...
March 25, 2018: Proteins
https://www.readbyqxmd.com/read/29562920/the-safety-of-live-attenuated-vaccines-in-patients-using-il-1-or-il-6-blockade-an-international-survey
#17
Jerold Jeyaratnam, Nienke M Ter Haar, Helen J Lachmann, Ozgur Kasapcopur, Amanda K Ombrello, Donato Rigante, Fatma Dedeoglu, Ezgi H Baris, Sebastiaan J Vastert, Nico M Wulffraat, Joost Frenkel
BACKGROUND: Withholding live-attenuated vaccines in patients using interleukin (IL)-1 or IL-6 blocking agents is recommended by guidelines for both pediatric and adult rheumatic diseases, since there is a risk of infection in an immune suppressed host. However, this has never been studied. This retrospective, multicenter survey aimed to evaluate the safety of live-attenuated vaccines in patients using IL-1 or IL-6 blockade. METHODS: We contacted physicians involved in the treatment of autoinflammatory diseases to investigate potential cases...
March 21, 2018: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/29559814/a-rare-cause-of-fever-in-an-adult-a-case-of-familial-mediterranean-fever
#18
Ilknur Erdem, Fatih Saritas, Ritvan Karaali, Enes Ardic, Gaye Kubra Emeksiz, Sonat Pinar Kara, R Merve Yaniker, Oguzhan Bol
Background: Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease characterized by recurrent fever attacks and serositis. Nonspecific manifestations of the FMF can mimic many common acquired disorders such as infections and acute abdomen. This can delay recognition for many years and lead to comprehensive assessments and even unnecessary surgeries. Untreated FMF may lead to serious complications such as end-stage renal disease and malabsorption due to amyloid deposits in the kidneys and the digestive system...
2018: International Medical Case Reports Journal
https://www.readbyqxmd.com/read/29543225/clinical-and-genetic-heterogeneity-in-a-large-cohort-of-armenian-patients-with-late-onset-familial-mediterranean-fever
#19
Gernot Kriegshäuser, Dietmar Enko, Hasmik Hayrapetyan, Stepan Atoyan, Christian Oberkanins, Tamara Sarkisian
PurposeThis work aimed at investigating demographic, clinical, and genetic characteristics of individuals experiencing their first familial Mediterranean fever (FMF) attack at age ≥40 years in a very large cohort of Armenian FMF patients.MethodsIn total, 10,370 Armenian patients diagnosed with FMF based on the Tel Hashomer criteria and carrying at least one MEFV mutant allele were included in this study.ResultsA total of 354 (3.40%) patients had late-onset FMF. Of these, 194 (54.80%) were female and 160 (45...
March 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29531656/chemotherapy-colchicine-interaction-in-a-child-with-familial-mediterranean-fever-and-hodgkin-lymphoma
#20
Karin P S Langenberg-Ververgaert, Ronald M Laxer, Angela S Punnett, L Lee Dupuis, Yaron Finkelstein, Oussama Abla
Familial Mediterranean fever (FMF) has been associated with hematological malignancies but has not been reported in association with Hodgkin lymphoma (HL). We hereby describe the first pediatric patient with FMF and stage IIA nodular sclerosis HL. She was treated with prednisone, doxorubicin, vincristine and etoposide (OEPA) being on therapy with colchicine. However, she suffered more than expected treatment-related toxicity attributed either to chemotherapy (severe neutropenia) or colchicine (Abdominal pains and diarrhoea)...
2018: Mediterranean Journal of Hematology and Infectious Diseases
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