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https://www.readbyqxmd.com/read/29326535/very-rare-presentation-of-cerebrovascular-accident-in-20-year-old-man-with-familial-mediterranean-fever-case-report
#1
Miramir Aghdashi, Seyed-Mostafa Seidmardani, Sara Vossoughian, Seyed Arman Seyed Mokhtari
Familial Mediterranean fever (FMF) is characterized by recurrent episodes of fever accompanied by serosal, synovial, or cutaneous inflammation. The central nervous system (CNS) is rarely involved in FMF. The CNS involvement includes demyelinating lesions, posterior reversible encephalopathy syndrome, pseudotumor cerebri, optic neuritis, and cerebral vasculitis. Here, we present a 20-year-old man, a known case of FMF with abrupt left-sided hemiparesis. Brain magnetic resonance imaging revealed right periventricular infarction...
2018: Clinical Medicine Insights. Case Reports
https://www.readbyqxmd.com/read/29322855/fatigue-in-pediatric-patients-with-familial-mediterranean-fever
#2
Semanur Özdel, Z Birsin Özçakar, Nilgün Cakar, Fatma Aydın, Elif Çelikel, Atilla H Elhan, Fatoş Yalçınkaya
OBJECTIVES: Familial Mediterranean fever (FMF) is characterized by recurrent, self-limited attacks of fever with serositis involving the peritoneum, pleura and joints. Fatigue is a common problem in many pediatric rheumatic diseases; however, has not been evaluated systematically in FMF patients. Accordingly, the aim of this study was to evaluate fatigue and its possible allied factors in patients with FMF. METHODS: Patients with FMF, aged between 10-18 years, were assessed by completed validated fatigue questionnaire (Checklist Individual Strength-20)...
January 11, 2018: Modern Rheumatology
https://www.readbyqxmd.com/read/29318909/how-to-discern-folliculotropic-mycosis-fungoides-from-follicular-mucinosis-using-a-pediatric-case
#3
Drew A Emge, Daniel J Lewis, Phyu P Aung, Madeleine Duvic
Folliculotropic mycosis fungoides (FMF) is a variant of mycosis fungoides (MF) with folliculotropic, atypical lymphocytes that may or may not have mucin deposition surrounding the hair follicle. Follicular mucinosis (FM) is a primary or secondary finding in FMF, lupus, or collagen vascular diseases that is only a histological process of mucin deposition surrounding the hair follicles. We present a case of a 6-year-old boy who had features of both FMF and primary follicular mucinosis (PFM). The case reveals key insights on FMF with concurrent FM in pediatric patients and how to differentiate between FMF and PFM...
January 1, 2018: Journal of Cutaneous Medicine and Surgery
https://www.readbyqxmd.com/read/29318585/dermoscopic-characterization-of-cutaneous-lymphomas-a-pilot-survey
#4
Grant K Ghahramani, Kirsten E Goetz, Vincent Liu
BACKGROUND: While substantial dermoscopic analysis of melanocytic lesions has been performed, dermoscopic characterization of cutaneous lymphoid proliferations has been limited. Cutaneous lymphoma, particularly early mycosis fungoides (MF) and its variants, is often challenging to clinically and pathologically distinguish from inflammatory processes of the skin. This study aimed to survey the dermoscopic findings of cutaneous lymphomas and to discern whether any patterns might potentially serve as specific signatures...
January 10, 2018: International Journal of Dermatology
https://www.readbyqxmd.com/read/29314707/comparison-of-early-versus-late-onset-familial-mediterranean-fever
#5
Nazife Sule Yasar Bilge, Ismail Sari, Dilek Solmaz, Soner Senel, Hakan Emmungil, Levent Kilic, Sibel Yilmaz Oner, Fatih Yildiz, Sedat Yilmaz, Duygu Ersozlu Bozkirli, Muge Aydin Tufan, Sema Yilmaz, Veli Yazisiz, Yavuz Pehlivan, Cemal Bes, Gozde Yildirim Cetin, Sukran Erten, Emel Gonullu, Fezan Sahin, Servet Akar, Kenan Aksu, Umut Kalyoncu, Haner Direskeneli, Eren Erken, Mehmet Sayarlioglu, Muhammed Cınar, Timucin Kasifoglu
AIM: Familial Mediterranean fever (FMF) is the most common autoinflammatory disease. One of the common characteristics of this disease is its young age predominance. Nearly 90% of patients experience disease flares during early adult age periods. Currently there are limited data for the comparison of early versus late onset FMF and therefore the primary aim of this study was to investigate these two subsets with regard to their certain demographic, clinical and genetic differences. METHODS: Early (≤ 20 years, Group 1) and late (> 20 years, Group 2) onset FMF patients were identified from the national FMF registry that involves 2246 patients from 15 adult rheumatology clinics located in different geographical areas of Turkey...
January 5, 2018: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/29314663/mefv-gene-testing-may-guide-physicians-for-early-diagnosis-of-familial-mediterranean-fever
#6
Mehmet E Tezcan, Mehmet Avci, Ridvan Mercan, Mehmet Aliustaoglu, Mehmet Sargin
INTRODUCTION: Familial Mediterranean fever (FMF) is characterized by recurrent attacks of polyserositis. Even though clinical assessment is accepted to be the most important factor in the diagnosis of FMF, some diagnostic procedures may help the physician. In this study, we aimed to compare the number of diagnostic procedures performed and number of physician referrals in early diagnosed and late diagnosed cases. Furthermore, we assessed which diagnostic approaches would affect the decision-making of physicians in the early diagnosed patients...
January 5, 2018: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/29308278/abo-blood-groups-and-rheumatic-diseases
#7
Songül Çildağ, Yasemin Kara, Taşkın Şentürk
Objective: Various genetic and environmental risk factors have been shown to be associated with the incidence of rheumatic diseases. However, the pathogenesis of rheumatic diseases poorly understood. Several studies have shown associations of ABO blood groups with various diseases. Our study aimed to determine whether there is an association between the types of rheumatic diseases and ABO and Rh blood groups. Material and Methods: The study included the patients, followed up at the Immunology-Rheumatology clinic between January 2016 and December 2016 for diagnosis of rheumatic disease, who had an ABO Rh blood data...
December 2017: European Journal of Rheumatology
https://www.readbyqxmd.com/read/29274142/establishment-of-hybridized-focus-measure-functions-as-a-universal-method-for-autofocusing
#8
(no author information available yet)
Exact focusing is essential for any automatic image capturing system. Performances of focus measure functions (FMFs) used for autofocusing are sensitive to image contents and imaging systems. Therefore, identification of universal FMF assumes a lot of significance. Eight FMFs were hybridized in pairs of two and implemented simultaneously on a single stack to calculate the hybrid focus measure. In total, 28 hybrid FMFs (HFMFs) and eight FMFs were implemented on stacks of images from three different imaging modalities...
December 2017: Journal of Biomedical Optics
https://www.readbyqxmd.com/read/29274074/evaluation-of-subclinical-atherosclerosis-by-ultrasound-radiofrequency-data-technology-in-patients-with-familial-mediterranean-fever
#9
Hatice Kaplanoglu, Cem Özisler
OBJECTIVES: The aim of this study was to noninvasively demonstrate the presence of early risk associated with subclinical inflammatory activity in patients with familial Mediterranean fever (FMF) who had stable disease, using ultrasound (US) radiofrequency data technology. METHODS: A total of 110 participants, including 55 patients with FMF and 55 healthy control participants, were evaluated with Doppler US. The intima-media thickness and arterial stiffness were measured from bilateral common carotid arteries (CCAs) by the radiofrequency method...
December 23, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/29260407/does-thiol-disulphide-balance-show-oxidative-stress-in-different-mefv-mutations
#10
Burhan Balta, Murat Erdogan, Murat Alisik, Aslihan Kiraz, Tayfun Akalin, Funda Bastug, Ozcan Erel
Many studies have shown that oxidative stress levels increase in patients with Familial Mediterranean Fever (FMF). Thiols are a class of compounds that include a sulfhydryl group (-SH) and can react with free oxygen radicals to protect tissues. We aimed to investigate thiol-disulphide homeostatic status in FMF patients and examined the effect of different mutations in the MEFV gene on the thiol-disulphide balance. We investigated thiol-disulphide parameters in patients with FMF and healthy controls. To determine the differential effect of MEFV gene mutations on thiol-disulphide balance, subjects were divided into five groups based on homozygous or compound heterozygous exon 10 and nonexon 10 mutations...
December 19, 2017: Rheumatology International
https://www.readbyqxmd.com/read/29247997/the-nlrc4-inflammasome
#11
REVIEW
Joseph A Duncan, Scott W Canna
15 years ago, the fundamental biology of an inflammatory signaling complex eventually dubbed "the inflammasome" began to unravel in chronologic parallel with the discovery that many inflammatory diseases were associated with its hyperactivity. Though the genetic origins of Familial Mediterranean Fever (FMF, caused my mutations in MEFV) were discovered first, it would take nearly two decades before the mechanistic connections to a PYRIN inflammasome were made. In the interim, the intensive study of the NLRP3 inflammasome, and the diseases associated with its hyperactivation, have largely dictated the paradigm of inflammasome composition and function...
January 2018: Immunological Reviews
https://www.readbyqxmd.com/read/29240030/a-case-of-familial-mediterranean-fever-having-intermittent-leukopenia
#12
Ilke Beyitler, Salih Kavukcu
Familial Mediterranean fever (FMF) is a genetically inherited autoinflammatory disorder characterized by inflammatory attacks and may result in amyloidosis as a severe complication. Elevation of acute phase reactants, including leukocytosis, is seen during attack periods. Here we describe a 13-year-old female patient with a very rare clinical presentation of FMF, who would experience FMF attacks when she did not regularly take her colchicine. During these attacks she had leukopenia and neutropenia instead of leukocytosis...
December 12, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29239128/efficacy-of-anakinra-in-a-patient-with-systemic-amyloidosis-presented-with-amyloidoma
#13
Hulya Nalcacioglu, Ozan Ozkaya, Gurkan Genc, Suat Ayyildiz, Mehmet Kefeli, Murat Elli, Oguz Aydin, Meltem Ceyhan Bilgici
Amyloidosis is a heterogeneous group of disorders characterized by extracellular deposition of unique protein fibrils. The least common presentation of an amyloid deposition is as a discrete mass called amyloidoma or amyloid tumor. We report a case of a soft tissue amyloidoma in the abdomen of a 16-year-old girl who was diagnosed as having systemic amyloidosis. A girl aged 16 years was referred to our hospital with a pre-diagnosis of a retroperitoneal mass documented with abdominal ultrasonography and tomography...
December 13, 2017: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/29224588/alteration-of-the-microrna-expression-profile-in-familial-mediterranean-fever-patients
#14
Yeliz Z Akkaya-Ulum, Banu Balci-Peynircioglu, Omer Karadag, Fehime K Eroglu, Umut Kalyoncu, Sedat Kiraz, Ali Ihsan Ertenli, Seza Özen, Engin Yilmaz
OBJECTIVES: Phenotypic heterogeneity in familial Mediterranean fever (FMF) disease indicated that FMF is not a simple monogenic disease. Therefore it has been suggested that epigenetic factors can be one of the reason for the variations. We undertook this study to test potential involvement of miRNAs in the pathogenesis of FMF. METHODS: miRNA array was performed on whole blood RNA samples from 6 healthy controls (-/-), 6 FMF patients (M694V/M694V), 6 carriers who displayed the disease phenotype (M694V/-) and 6 healthy carriers (M694V/-)...
November 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29222884/development-and-evaluation-of-nutritional-sensory-and-glycemic-properties-of-finger-millet-eleusine-coracana-l-based-food-products
#15
Shanmugam Shobana, Ravi Poovizhi Selvi, Vasudevan Kavitha, Nagamuthu Gayathri, Gunasekaran Geetha, Rajagopal Gayathri, Parthasarthy Vijayalakshmi, K Kandappa Gounder Balasubramaniam, Vaidya Ruchi, Vasudevan Sudha, Ranjit Mohan Anjana, Ranjit Unnikrishnan, Nagappa Gurusiddappa Malleshi, C Jk Henry, Kamala Krishnaswamy, Viswanathan Mohan
BACKGROUND AND OBJECTIVES: Finger millet (Eleusine coracana L.) (FM) is rich in dietary fibre and is therefore expected to elicit a lower glycemic response compared to other grains. However, there is little data on the glycemic properties of FM-based products. We evaluated the nutritional, sensory and glycemic properties of decorticated millet with lower polish (DFM-LDP), flakes (FMF), vermicelli (FMV) and extruded snack (FMES) (both FMV and FMES with 7-8% added soluble fibre). METHODS AND STUDY DESIGN: The nutrient contents of the FM products were evaluated by standard AOAC (Association of Official Analytical Chemists) and AACC (American Association of Cereal Chemists) methods...
2018: Asia Pacific Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/29178647/comprehensive-analysis-of-mutations-in-the-mefv-gene-reveal-that-the-location-and-not-the-substitution-type-determines-symptom-severity-in-fmf
#16
Mike M Moradian, Davit Babikyan, Dion Banoian, Hasmik Hayrapetyan, Hakob Manvelyan, Nareh Avanesian, Tamara Sarkisian
BACKGROUND: Familial Mediterranean Fever (FMF) is an autoinflammatory disorder caused by mutations in the MEFV gene. These mutations appear in different populations with different frequencies and their caused symptom severities vary from mild to moderate to severe depending on the mutation type. METHODS: In this study, we analyzed the mutations that have been reported in the MEFV gene from symptomatic FMF patients and compared their frequencies in different populations from the 1000 Genome and the Exome databases, using statistical clustering...
November 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29173686/investigation-of-mefv-gene-polymorphisms-g138g-and-a165a-in-adult-patients-with-familial-mediterranean-fever
#17
Mustafa Ferhat Öksuz, Mutlu Karkucak, Orhan Görukmez, Gökhan Ocakoğlu, Abdulmecit Yıldız, Mehmet Ture, Tahsin Yakut, Kamil Dilek
AIM: Various mutations have been identified in the Mediterranean fever (MEFV) gene which is reported to be responsible from Familial Mediterranean fever (FMF). In our study, we aimed to determine the frequency of the MEFV mutations in our region and to investigate the impact of G138G (rs224224, c.414A>G) and A165A (rs224223, c.495C>A) gene polymorphisms on the clinical findings of the disease. METHODS: One hundred and sixteen patients diagnosed with FMF and 95 control subjects were included in this study...
November 2017: Revista Brasileira de Reumatologia
https://www.readbyqxmd.com/read/29169156/folliculotropism-does-not-affect-overall-survival-in-mycosis-fungoides-results-from-a-single-center-cohort-and-meta-analysis
#18
Mariah Giberson, Ahmed Mourad, Robert Gniadecki
BACKGROUND: Folliculotropic mycosis fungoides (FMF) is a distinct subtype of mycosis fungoides (MF) with unique clinicopathological features. The medical literature suggests that FMF has a more aggressive course and worse survival than classic MF. Previous studies do not use standardized treatment, and no studies have reported an association between treatment response and overall survival (OS). OBJECTIVE: To compare OS for MF, FMF, and Sézary syndrome (SS) patients...
November 24, 2017: Dermatology: International Journal for Clinical and Investigative Dermatology
https://www.readbyqxmd.com/read/29166502/outcomes-of-long-term-treatments-of-type-i-hereditary-angioedema-in-a-turkish-family
#19
Gulsen Akoglu, Belgin Kesim, Gokhan Yildiz, Ahmet Metin
BACKGROUND: Hereditary angioedema is a rare autosomal dominantly inherited immunodeficiency disorder characterized by potentially life-threatening angioedema attacks. OBJECTIVE: We aimed to investigate the clinical and genetic features of a family with angioedema attacks. METHODS: The medical history, clinical features and C1-INH gene mutation of a Turkish family were investigated and outcomes of long-term treatments were described. RESULTS: Five members had experienced recurrent swellings on the face and extremities triggered by trauma...
September 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/29164000/late-ventricular-potentials-in-familial-mediterranean-fever-with-and-without-aa-amyloidosis
#20
Udi Nussinovitch, Avi Livneh
Objective: Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by episodic and chronic inflammation that may lead to both accelerated coronary atherosclerosis and cardiac AA amyloidosis. We hypothesized that late ventricular potentials (LPs), an established electrocardiographic susceptibility marker of ventricular arrhythmias, will be more common in FMF than in the adjusted normal population due to these two types of inflammation-associated cardiac effects...
September 2017: European Journal of Rheumatology
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