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https://www.readbyqxmd.com/read/29148415/exacerbation-of-beh%C3%A3-et-s-syndrome-and-familial-mediterranean-fever-with-menstruation
#1
Gul Guzelant, Yesim Ozguler, Sinem Nihal Esatoglu, Guzin Karatemiz, Huri Ozdogan, Sebahattin Yurdakul, Hasan Yazici, Emire Seyahi
OBECTIVES: Menstruation triggers several conditions such as migraine, recurrent aphthous stomatitis and acne vulgaris in healthy individuals. There is evidence that Behçet's syndrome (BS) and familial Mediterranean fever (FMF) may exacerbate during menstruation. The aim is to assess whether BS and FMF patients experience menstrual flares. METHODS: Females of reproductive age with BS and FMF seen consecutively at the outpatient clinic of Cerrahpasa Medical Faculty at Istanbul, as well as apparently healthy hospital workers were studied using a standardised questionnaire...
October 24, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29148409/a-high-and-equal-prevalence-of-the-q703k-variant-in-nlrp3-patients-with-autoinflammatory-symptoms-and-ethnically-matched-controls
#2
Merav Lidar, Yael Brantz, Yael Shinar, Haike Reznik-Wolf, Avi Livneh, Ilan Ben Zvi, Rinat Cohen, Yaakov Berkun, Philip J Hashkes, Hagit Peleg, Aharon Kessel, Gleb Slobodin, Michael Rozenbaum, Ofra Goldzweig, Elon Pras
OBJECTIVES: Cryopyrin associated periodic syndromes (CAPS) comprise a spectrum of autoinflammatory disorders of varying severity caused by mutations in the NLRP3 gene. The NLRP3-Q703K allele has been reported both as a functional polymorphism and as a low penetrance mutation. METHODS: To describe the clinical phenotype of subjects with the Q703K allele and to report the frequency of this allele among patients with autoinflammatory symptoms and healthy controls. To this end, a cohort of 10 ethnically-matched controls per each Q703K-carrying patient, was composed...
October 6, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29148404/other-autoinflammatory-disease-genes-in-an-fmf-prevalent-population-a-homozygous-mvk-mutation-and-a-novel-heterozygous-tnfrsf1a-mutation-in-two-different-turkish-families-with-clinical-fmf
#3
İlker Karacan, Serdal Uğurlu, Aslıhan Tolun, Eda Tahir Turanlı, Huri Özdoğan
OBJECTIVES: No MEFV mutations are detected in approximately 10% of the patients with clinical FMF in populations where the disease is highly prevalent. Causative mutations were searched in other genes in two such families with "MEFV negative clinical FMF". METHODS: Father and daughter of family A had attacks of fever, abdominal pain and AA amyloidosis. The two sibs of family B complained of febrile episodes with abdominal pain and arthritis. The patients were clinically investigated...
October 27, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29148036/function-and-mechanism-of-the-pyrin-inflammasome
#4
REVIEW
Rosalie Heilig, Petr Broz
Pyrin, encoded by the MEFV gene, is an intracellular pattern recognition receptor that assembles inflammasome complexes in response to pathogen infections. Mutations in the MEFV gene have been linked to autoinflammatory diseases such as Familial Mediterranean Fever (FMF) or pyrin-associated autoinflammation with neutrophilic dermatosis (PAAND). Recent insights have now revealed how pyrin is activated during infection, providing a molecular basis for the understanding of such disease-causing mutations in pyrin...
November 16, 2017: European Journal of Immunology
https://www.readbyqxmd.com/read/29143127/decreased-serum-vitamin-b12-and-vitamin-d-levels-affect-sleep-quality-in-children-with-familial-mediterranean-fever
#5
Rabia Miray Kisla Ekinci, Sibel Balci, Mahir Serbes, Dilek Dogruel, Derya Ufuk Altintas, Mustafa Yilmaz
Familial Mediterranean fever is an autoinflammatory disorder characterized by recurrent fever and serositis. We aimed to describe serum vitamin B12 and vitamin D levels and their correlation with self-reported sleep quality of pediatric FMF patients. Sixty-three children with FMF were enrolled to the study. Information on sleep quality was obtained using self-administration of Pittsburg Sleep Quality Index (PSQI). The patients were divided into subgroups depending on vitamin D serum concentrations: ≥ 20 and < 20 ng/ml...
November 15, 2017: Rheumatology International
https://www.readbyqxmd.com/read/29138905/fatigue-in-familial-mediterranean-fever-and-its-relations-with-other-clinical-parameters
#6
Mehmet Tuncay Duruoz, Cagri Unal, Duygu Karali Bingul, Firat Ulutatar
Fatigue is a common problem in patients with rheumatic disease. It may cause disability and poor quality of life. The aim of this study is to investigate fatigue in FMF patients as a disabling symptom and its associations with clinical and demographic variables. FMF patients were recruited into the study according to FMF Tel Hashomer criteria. Control group is composed of healthy individuals. Demographic and clinical features of the patients including PRAS scores were noted. Visual analogue score of pain (VAS-pain) and VAS-fatigue were used as clinical parameters...
November 14, 2017: Rheumatology International
https://www.readbyqxmd.com/read/29138539/patient-reported-benefits-from-patient-organization-magazines-and-internet-based-peer-support-in-m%C3%A3-ni%C3%A3-re-s-disease
#7
Vinaya Manchaiah, Ilmari Pyykkö, Jing Zou, Hilla Levo, Erna Kentala
Objectives: To facilitate self-help, the Finnish Ménière's Federation (FMF) provides various kinds of support to persons with Ménière's disease (MD), which includes patient magazines (PM) and Internet-based peer support (iPS). The current study aimed to evaluate the benefits reported by MD patients in terms of PM and iPS. Method: The study used a cross-sectional survey design with a mixture of structured and open-ended questions administered online. A sample of 185 patients from the FMF membership database provided complete data...
2017: Patient Preference and Adherence
https://www.readbyqxmd.com/read/29119082/cardiac-manifestations-of-familial-mediterranean-fever
#8
REVIEW
Ahmad Alsarah, Osama Alsara, Heather S Laird-Fick
Familial Mediterranean fever (FMF) is autoinflammatory disorder characterized by sporadic attacks of fever, peritonitis, pleuritis, and arthritis. It is mainly seen in patients from Mediterranean origins, but it is now reported more frequently in Europe and North America due to immigration. To analyze the data on the cardiovascular manifestations in FMF patients, we searched PubMed using the terms "Familial Mediterranean Fever" or "FMF" in combination with other key words including "cardiovascular diseases" "pericardial diseases" "atherosclerosis" "coronary artery diseases" "cardiomyopathy" "pulmonary hypertension" or "valvular diseases...
October 2017: Avicenna Journal of Medicine
https://www.readbyqxmd.com/read/29108670/autophagy-dysfunction-in-autoinflammatory-diseases
#9
REVIEW
Yichao Hua, Min Shen, Christine McDonald, Qingping Yao
Autoinflammatory diseases (AUIDs) are a genetically heterogeneous group of rheumatic diseases characterized by episodic inflammation linked with dysregulated innate immune responses. In this review, we summarize the molecular mechanisms altered by disease-associated variants in several AUIDs, including NOD2-associated diseases, TNF receptor-associated periodic syndrome (TRAPS), familial Mediterranean fever (FMF) and hyperimmunoglobulinemia D and periodic fever syndrome (HIDS), and highlight the roles dysregulated autophagy plays in disease pathogenesis...
November 3, 2017: Journal of Autoimmunity
https://www.readbyqxmd.com/read/29101676/long-term-follow-up-of-paediatric-mefv-carriers
#10
Balahan Makay, Nesrin Gülez
Although familial Mediterranean fever (FMF) is inherited autosomal recessively, some heterozygotes may express disease phenotype and require therapy. To date, there is no study in the literature about how to follow-up Mediterranean fever (MEFV) heterozygotes who do not fulfil FMF criteria in the paediatric age group. This study aims to share a single-centre experience of the long-term clinical and laboratory follow-up of paediatric MEFV carriers. We reviewed the charts of 69 children who were heterozygous for MEFV variants...
November 3, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/29097761/distribution-of-entangled-photon-pairs-over-few-mode-fibers
#11
Liang Cui, Jie Su, Xiaoying Li, Z Y Ou
Few-mode fibers (FMFs) have been recently employed in classical optical communication to increase the data transmission capacity. Here we explore the capability of employing FMF for long distance quantum communication. We experimentally distribute photon pairs in the forms of time-bin and polarization entanglement over a 1-km-long FMF. We find the time-bin entangled photon pairs maintain their high degree of entanglement, no matter what type of spatial modes they are distributed in. For the polarization entangled photon pairs, however, the degree of entanglement is maintained when photon pairs are distributed in LP 01 mode but significantly declines when photon pairs are distributed in LP 11 mode due to a mode coupling effect in LP 11 mode group...
November 2, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29094181/cardiovascular-disease-in-patients-with-autoinflammatory-syndromes
#12
REVIEW
Rainer Hintenberger, Agnes Falkinger, Kathrin Danninger, Herwig Pieringer
Autoinflammatory syndromes (AIS) are characterized by recurring events of inflammation, leading to a variety of organ manifestations and fever attacks. A subgroup of AIS is commonly referred to as hereditary periodic fever syndromes (HPFS). There is substantial evidence that autoimmune diseases such as rheumatoid arthritis and systemic lupus erythematosus are strongly associated with cardiovascular morbidity and mortality. The link between AIS and cardiovascular disease is not that clear, even if the concept of continuous inflammation as a risk factor for cardiovascular disease is widely accepted...
November 1, 2017: Rheumatology International
https://www.readbyqxmd.com/read/29080837/genotype-phenotype-correlation-in-fmf-patients-a-non-classic-recessive-autosomal-or-atypical-dominant-autosomal-inheritance
#13
V Procopio, S Manti, G Bianco, G Conti, A Romeo, F Maimone, T Arrigo, M C Cutrupi, C Salpietro, C Cuppari
BACKGROUND: Uncertainty remains on the pathogenetic mechanisms, model of inheritance as well as genotype-phenotype correlation of FMF disease. OBJECTIVE: To investigate the impact of genetic factors on the FMF phenotype and the disease inheritance model. METHODS: A total of 107 FMF patients were enrolled. Patients were diagnosed clinically. All patients underwent genetic analysis of the FMF locus on 16p13.3. RESULTS: 9 distinct mutations were detected...
October 25, 2017: Gene
https://www.readbyqxmd.com/read/29057435/influence-of-first-trimester-biochemistry-methodology-on-detection-rate-in-screening-for-trisomy-21
#14
Bartosz Czuba, Dariusz Borowski, Piotr Węgrzyn, Wojciech Cnota, Anna Kubaty, Mirosław Wielgoś, Krzysztof Sodowski
OBJECTIVES: The purpose of the study was to compare detection rates (DR) of FMF-certified and non-certified biochemical tests (BC) in trisomy 21 screening at 11-13 + 6 weeks. MATERIAL AND METHODS: In 2267 singleton pregnancies FMF-certified doctors measured crown to rump length (CRL) and nuchal translucency (NT). Serum samples were tested for free β-hCG and the PAPP-A using 2 analysers (Delfia - Perkin Elmer and Immulite 2000 - DPC), the results were expressed in MoM values and used for computer calculation of the risk for trisomy 21...
2017: Ginekologia Polska
https://www.readbyqxmd.com/read/29051974/cardiac-disease-in-familial-mediterranean-fever
#15
REVIEW
Eren Erken, Ertugrul Erken
Familial Mediterranean fever (FMF) is an autoinflammatory disease manifested by inflammatory attacks of peritonitis, pleuritis, pericarditis accompanied by fever and arthritis. Mutations of MEFV gene results in pyrin dysfunction, which causes uncontrolled interleukin-1 beta production and triggers the inflammatory attacks. Inflammation persists even during attack-free periods in one-third of the FMF patients. Findings of elevated proinflammatory cytokine patterns during remission as well as inflammatory attacks indicate the continuous subclinical disease activity and inflammation...
October 20, 2017: Rheumatology International
https://www.readbyqxmd.com/read/29048073/effective-mode-field-diameter-for-few-mode-fibers-for-considering-splice-loss-characteristics
#16
Takashi Matsui, Kazuhide Nakajima, Taiji Sakamoto
We experimentally and numerically investigate the applicability of the conventional near-field pattern, far-field pattern (FFP), and variable aperture (VA) methods for measuring the effective mode-field diameter (MFD) of the higher-order modes, which can be used for accurately evaluating splice loss. We confirmed that the variation in the MFD values obtained with the FFP and VA methods can be converged by considering the minimum scanning angle and the minimum aperture angle, respectively, for both fundamental and higher-order modes...
September 10, 2017: Applied Optics
https://www.readbyqxmd.com/read/29047407/a-web-based-collection-of-genotype-phenotype-associations-in-hereditary-recurrent-fevers-from-the-eurofever-registry
#17
Riccardo Papa, Matteo Doglio, Helen J Lachmann, Seza Ozen, Joost Frenkel, Anna Simon, Bénédicte Neven, Jasmin Kuemmerle-Deschner, Huri Ozgodan, Roberta Caorsi, Silvia Federici, Martina Finetti, Maria Trachana, Jurgen Brunner, Liliana Bezrodnik, Mari Carmen Pinedo Gago, Maria Cristina Maggio, Elena Tsitsami, Wafaa Al Suwairi, Graciela Espada, Anna Shcherbina, Guzide Aksu, Nicolino Ruperto, Alberto Martini, Isabella Ceccherini, Marco Gattorno
BACKGROUND: Hereditary recurrent fevers (HRF) are a group of rare monogenic diseases leading to recurrent inflammatory flares. A large number of variants has been described for the four genes associated with the best known HRF, namely MEFV, NLRP3, MVK, TNFRSF1A. The Infevers database ( http://fmf.igh.cnrs.fr/ISSAID/infevers ) is a large international registry collecting variants reported in these genes. However, no genotype-phenotype associations are provided, but only the clinical phenotype of the first patient(s) described for each mutation...
October 18, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29041603/mdm-transmission-of-cap-16-signals-over-1-1-km-anti-bending-trench-assisted-elliptical-core-few-mode-fiber-in-passive-optical-networks
#18
Lulu Wang, Jianzhou Ai, Long Zhu, Andong Wang, Songnian Fu, Cheng Du, Qi Mo, Jian Wang
Mode-division multiplexing passive optical network (MDM-PON) is a promising scheme for next-generation access networks to further increase the transmission capacity and number of end-customers. In this paper, we propose and experimentally demonstrate the implementation of MDM-PON architecture with the carrier-less amplitude/phase (CAP) modulation signals and two effectively separated spatial modes multiplexing transmission in an elliptical-core few-mode fiber (EC-FMF). The trench-assisted EC-FMF features favorable anti-bending performance with negligible power variations and stable mode intensity profiles under extreme bending conditions...
September 18, 2017: Optics Express
https://www.readbyqxmd.com/read/29040788/familial-mediterranean-fever-mutations-are-hypermorphic-mutations-that-specifically-decrease-the-activation-threshold-of-the-pyrin-inflammasome
#19
Yvan Jamilloux, Lucie Lefeuvre, Flora Magnotti, Amandine Martin, Sarah Benezech, Omran Allatif, Mathilde Penel-Page, Véronique Hentgen, Pascal Sève, Mathieu Gerfaud-Valentin, Agnès Duquesne, Marine Desjonquères, Audrey Laurent, Vanessa Rémy-Piccolo, Rolando Cimaz, Luca Cantarini, Emilie Bourdonnay, Thierry Walzer, Bénédicte F Py, Alexandre Belot, Thomas Henry
Objectives: FMF is the most frequent autoinflammatory disease and is associated in most patients with bi-allelic MEFV mutations. MEFV encodes Pyrin, an inflammasome sensor activated following RhoGTPase inhibition. The functional consequences of MEFV mutations on the ability of Pyrin variants to act as inflammasome sensors are largely unknown. The aim of this study was to assess whether MEFV mutations affect the ability of Pyrin to detect RhoGTPase inhibition and other inflammasome stimuli...
October 12, 2017: Rheumatology
https://www.readbyqxmd.com/read/29038396/multiple-myeloma-in-a-patient-with-familial-mediterranean-fever
#20
Bahman Bashardoust, Nasrollah Maleki
Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent episodes of painful inflammation in the abdomen, chest, or joints. The coexistence of multiple myeloma (MM) and FMF is an extremely rare event. Here, we report a case of FMF with concurrent MM. A 63-year-old woman was diagnosed with FMF since 15 years earlier. She was admitted with a complaint of low back pain. Regarding the presence of back pain, anemia, hypercalcemia, and kidney failure, a diagnosis of MM was suspected...
October 2017: Iranian Journal of Kidney Diseases
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