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https://www.readbyqxmd.com/read/28715818/first-trimester-combined-multimarker-prospective-study-for-the-detection-of-pregnancies-at-a-high-risk-of-developing-preeclampsia-using-the-fetal-medicine-foundation-algorithm
#1
Meriem Guizani, Joseph Valsamis, Vivien Dutemeyer, Xin Kang, Vera Ceccoti, Joe Khalife, Silvia F Duiella, Frederic Blavier, Alessandra Faraca, Teresa Cos, Jacques C Jani
OBJECTIVE: To evaluate the Fetal Medicine Foundation (FMF) algorithm prospectively at 11-13 weeks' gestation in the prediction of preeclampsia (PE). METHODS: Single-center prospective screening study for PE of singleton pregnancies at 11-13 weeks. The FMF algorithm takes into account maternal characteristics and biomarkers. Detection rate (DR) for a 10% false-positive rate (FPR) for delivery with preterm and term PE was estimated. RESULTS: Between January 2011 and December 2013, of 3,239 patients available for final analysis, 36 (1...
July 18, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28692463/syringotropic-mycosis-fungoides-a-rare-form-of-cutaneous-t-cell-lymphoma-enabling-a-histopathologic-sigh-of-relief
#2
Larisa M Lehmer, Kyle T Amber, Sébastien M de Feraudy
Syringotropic mycosis fungoides (STMF) is a very rare variant of cutaneous T-cell lymphoma. It follows a much milder disease course than its clinically indistinguishable adnexal counterpart, folliculotropic mycosis fungoides (FMF). We report a case of a 36-year-old man who presented with erythematous, studded papules and plaques on the left upper extremity and right anterior thigh diagnosed as mycosis fungoides (MF) Stage 1A on initial superficial shave biopsy. Lesions recurred after initial improvement with narrow-band ultraviolet light therapy demonstrating a concentration of abnormal lymphocytes around eccrine sweat glands on repeat biopsy consistent with STMF...
May 18, 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28690860/the-detection-of-a-novel-insertion-mutation-in-exon-2-of-the-mefv-gene-associated-with-familial-mediterranean-fever-in-a-moroccan-family
#3
Touhami Mejtoute, Hanane Sayel, Jamila El-Akhal, Fatima Z Moufid, Laila Bouguenouch, Ihssane El Bouchikhi, Mustapha Hida, Driss Couissi, Karim Ouldim
Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease that is inherited in an autosomal recessive manner and is caused by mutations in the MEFV gene. As the name indicates, FMF occurs within families and is more common in individuals of Mediterranean descent than in persons of any other ethnicity. To date, 314 mutations have been reported. We studied a Moroccan family with a total of five members, including a mother who was presenting with symptoms of FMF, while her four children remained asymptomatic...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28680306/changes-in-cerebral-blood-flow-in-patients-with-familial-mediterranean-fever
#4
Gözde Çetin, Uygar Utku, Nurhan Atilla, Kadir Gişi, Mehmet Sayarlioğlu
INTRODUCTION: It is known that there is a relationship between systemic inflammation and atherosclerosis. Atherosclerosis is one of the best-known causes of cerebrovascular diseases. The aim of this study was to assess cerebral blood flow velocity using transcranial Doppler (TCD) ultrasonography in patients with familial Mediterranean fever (FMF). METHODS: A total of 30 patients aged from 20 to 50 years with FMF were enrolled in the FMF group consecutively. The control group (non-FMF group) consisted of 30 age- and sex-matched randomly selected patients without FMF who had other diagnoses such as fibromyalgia and did not have risk factors for atherosclerosis...
June 2017: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/28678379/a-novel-cluster-of-patients-with-familial-mediterranean-fever-in-southern-italy
#5
Leonilde Bonfrate, Giuseppe Scaccianoce, Giuseppe Palasciano, Eldad Ben-Chetrit, Piero Portincasa
BACKGROUND: Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder characterized by recurrent attacks of fever and serositis (peritonitis, pleuritic or synovitis) affecting mainly populations of Mediterranean origin. AIM: To describe a relatively new cluster of FMF subjects from Apulia and Basilicata regions (southern Italy). PATIENTS AND METHODS: Subjects were screened for FMF using the Tel-Hashomer criteria and genetic analysis...
July 5, 2017: European Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28653374/a-familial-mediterranean-fever-flare-induced-by-a-drug-reaction-with-eosinophilia-and-systemic-symptoms
#6
A Deschamps, A Samain, P Carvalho, P Courville, H Levesque, P Musette, P Joly
Familial Mediterranean Fever (FMF) is an autosomal recessive inherited auto-inflammatory disease revealed by flare episodes characterized by systemic symptoms (pleural, joint serositis, abdominal pain…) that are triggered by infections, cold or menstruations. Drug Reaction with Eosinophilia and Systemic Symptoms (DRESS) is a severe cutaneous adverse reaction characterized by visceral involvement and viral reactivation including HHV6, HHV7, EBV, CMV… and may be associated with certain HLA alleles. This article is protected by copyright...
June 27, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28631068/autoinflammatory-diseases-with-periodic-fevers
#7
REVIEW
Erdal Sag, Yelda Bilginer, Seza Ozen
PURPOSE OF REVIEW: One purpose of this review was to raise awareness for the new autoinflammatory syndromes. These diseases are increasingly recognized and are in the differential diagnosis of many disease states. We also aimed to review the latest recommendations for the diagnosis, management, and treatment of these patients. RECENT FINDINGS: Familial Mediterranean fever (FMF), cryopyrin-associated periodic syndrome (CAPS), tumor necrosis factor receptor-associated periodic fever syndrome (TRAPS), and hyperimmunoglobulinemia D and periodic fever syndrome/mevalonate kinase deficiency (HIDS/MVKD) are the more common autoinflammatory diseases that are characterized by periodic fevers and attacks of inflammation...
July 2017: Current Rheumatology Reports
https://www.readbyqxmd.com/read/28626497/hepatoprotective-effect-of-polyphenol-enriched-fraction-from-folium-microcos-on-oxidative-stress-and-apoptosis-in-acetaminophen-induced-liver-injury-in-mice
#8
Hongtan Wu, Gang Zhang, Lisen Huang, Haiyue Pang, Na Zhang, Yupei Chen, Gueyhorng Wang
Folium Microcos (FM), the leaves of Microcos paniculata L., shows various biological functions including antioxidant activity and α-glucosidase inhibitory effect. However, its therapeutic potential in acute liver injury is still unknown. This study investigated the hepatoprotective effect and underlying mechanisms of the polyphenol-enriched fraction (FMF) from Folium Microcos. FMF exhibited strong free radical scavenging activities and prevented HepG2/Hepa1-6 cells from hydrogen peroxide- (H2O2-) induced ROS production and apoptosis in vitro...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/28624931/familial-mediterranean-fever-review-of-the-literature
#9
Mansour Alghamdi
Familial Mediterranean fever (FMF) is the most common monogenic periodic fever syndrome and characterized by recurrent episodes of fever, serositis, arthritis, dermal manifestations, and long-term renal complications. The MEFV gene was described in 1997 as the gene responsible for FMF and is inherited in autosomal recessive manner. It encodes mutated protein pyrin, an important player in the innate immune system and the component of inflammasome which leads to exaggerated inflammatory response through uncontrolled production of interleukin-1...
August 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28612629/uterine-artery-pulsatility-index-in-the-first-trimester-assessment-of-inter-sonographer-and-inter-sampling-site-measurement-differences
#10
Piya Chaemsaithong, Yuen Ha Ting, Kwun Yue Yvonne Cheng, Chiu Yee Liona Poon, Tak Yeung Leung, Daljit Singh Sahota
OBJECTIVE: To determine inter-sonographer, intersampling site pulsatility index differences in the ascending branch of the uterine artery (UtA-PI) and their effect on detection rates (DR) for early onset preeclampsia (PE). METHODS: A prospective observational study was conducted including 52 women with singleton viable pregnancy at 11-13 weeks' gestation. Consecutive bilateral UtA-PI measurements were performed by two sonographers. Both sonographers hold the Fetal Medicine Foundation (FMF) uterine artery Doppler assessment competency certificates...
June 14, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28606022/severity-and-frequency-of-restless-legs-syndrome-in-patients-with-familial-mediterranean-fever
#11
Samet Yılmaz, Burhanettin Çiğdem, Şeyda Figül Gökçe, Sevil Ceyhan-Doğan, Hatice Balaban
OBJECTIVE: Restless legs syndrome (RLS) is a common sensory motor disorder. RLS an urge to move the extremities that may be accompanied by dysesthesias, and significantly affects quality of life of affected patients. The frequency of RLS is higher in different systemic inflammatory diseases. Familial Mediterranean fever (FMF) is an inherited inflammatory disease characterized by attacks of polyserositis, arthritis, and fever. The prevalence of RLS in patients with FMF is unknown. This study aimed to evaluate the prevalence rate of RLS in a sample of patients with FMF and compare this prevalence with that of a matched normal population...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/28598780/the-liver-in-familial-mediterranean-fever-is-it-involved
#12
REVIEW
Eldad Ben-Chetrit, Hasan Yazici
OBJECTIVES: Familial Mediterranean fever (FMF) is characterised by recurrent attacks of fever and serositis. It may affect the peritoneum, pleura, synovia and the skin. Usually the liver is intact in FMF. Recently, this concept was challenged by some groups which claimed that hepatitis is a feature of FMF and that non-alcoholic liver disease (NAFLD) and cryptogenic cirrhosis are more common among FMF patients. Scope of this paper is to critically review the relevant literature and to answer the question whether or not the liver is involved in FMF...
June 9, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28597968/genetic-epidemiology-of-familial-mediterranean-fever-through-integrative-analysis-of-whole-genome-and-exome-sequences-from-middle-east-and-north-africa
#13
Remya Koshy, Ambily Sivadas, Vinod Scaria
Familial Mediterranean fever (FMF), an autosomal recessive and rare autoinflammatory disease is caused by genetic mutations in the MEFV gene and is highly prevalent in the Mediterranean basin. Though the carrier frequency of specific disease variants in the MEFV gene has been reported from isolated studies, a comprehensive view of variants in the Mediterranean region has not been possible due to paucity of data. The recent availability of whole-genome and whole-exome datasets prompted us to study the genetic epidemiology of MEFV variants in the region...
June 9, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28597017/folliculotropic-mycosis-fungoides-with-skewed-t-cell-receptor-cdr3-motif-suggestive-of-lipid-antigen-selection
#14
Panagiota Mantaka, Agnieszka Malecka, Gunhild Trøen, Per Helsing, Petter Gjersvik, Klaus Beiske, Jan Delabie
Folliculotropic mycosis fungoides (FMF), a variant of mycosis fungoides (MF) with distinct clinical features, is characterized by infiltration of malignant T cells in hair follicles. This raises the hypothesis that antigens in the hair follicle may contribute to the pathogenesis of FMF. T-cell receptor β gene (TRB) sequences as well as dendritic cell subsets in patients with FMF (n = 21) and control patients with MF (n = 20) were studied to explore this hypothesis. A recurrent usage of the TRB junctional genes TRBJ2-1 and TRBJ2-7 was found in patients with FMF compared with those with MF...
June 9, 2017: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/28590056/r202q-m694v-as-novel-mefv-gene-mutations-in-chronic-periodontitis-and-familial-mediterranean-fever
#15
Ö Fentoğlu, G Dinç, Ö Bağcı, A Doğru, I İlhan, F Y Kırzıoğlu, H Orhan
BACKGROUND AND OBJECTIVE: Familial Mediterranean fever (FMF) and chronic periodontitis are inflammatory diseases leading to an increase in the number of inflammasomes. To date, no published studies have reported on mutations in the Mediterranean fever (MEFV) gene in patients with chronic periodontitis, although the roles of MEFV gene mutations in FMF and FMF-associated amyloidosis (FMF-A) are well known. Therefore, the aim of this study was to evaluate the frequencies of MEFV gene mutations and serum amyloid A (SAA) and high-sensitivity C-reactive protein (hs-CRP) levels in patients with chronic periodontitis, FMF and FMF-A...
June 7, 2017: Journal of Periodontal Research
https://www.readbyqxmd.com/read/28589388/-efficacy-and-safety-analysis-of-off-label-treatment-with-biologics-in-autoinflammatory-diseases-experiences-from-a%C3%A2-german-registry%C3%A2-graid2
#16
F Proft, M Fleck, C Fiehn, H Schulze-Koops, M Witt, T Dörner, J C Henes
OBJECTIVE: To evaluate the safety and efficacy of therapy with biologics in patients with autoinflammatory diseases (AIF) or macrophage activating syndrome (MAS) in a real-life setting in Germany. METHODS: The German Register of Autoimmune Diseases 2 (GRAID2) is a retrospective, non-interventional, multicenter registry collecting data from all patients with inflammatory rheumatic diseases refractory to conventional therapy and treated with initial off-label biologics between August 2006 and December 2013...
June 6, 2017: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/28585601/canakinumab-treatment-in-four-children-with-colchicine-resistant-familial-mediterranean-fever
#17
Solmaz Ozkan, Bulent Atas
Familial Mediterranean Fever (FMF) is an autosomal recessive and autoinflammatory disease, characterized with inflammation of serous membranes such as peritoneum, pleura, synovium with fever and pain. Colchicine is the main treatment of FMF, but 5-10 % of patients are unresponsive to colchicine. We report using anti-interleukin-1 agents anakinra and canakinumab in four colchicine-resistant patients who were successfully treated. Three of the patients were siblings.
June 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28581880/does-familial-mediterranean-fever-affect-cognitive-function-in-children-electrophysiological-preliminary-study
#18
Gonca Keskindemirci, Gökçer Eskikurt, Nuray Aktay Ayaz, Mustafa Çakan, Numan Ermutlu, Ümmühan İşoğlu Alkaç
OBJECTIVES: Familial Mediterranean fever (FMF) is a periodic autoinflammatory disease with subclinical inflammation occurring between attacks. The aim of the study was to prospectively evaluate the cognitive function of children diagnosed with FMF that were under colchicine therapy and compare them with healthy controls through electrophysiologically event-related potentials (ERPs) study. METHODS: Twelve children with FMF and 12 healthy controls were included in the study...
June 5, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28575553/identification-of-robust-focus-measure-functions-for-the-automated-capturing-of-focused-images-from-ziehl-neelsen-stained-sputum-smear-microscopy-slide
#19
M I Shah, S Mishra, M Sarkar, C Rout
Capturing of the best-focused image using focus measure function (FMF) from a stack of images acquired at different focus distances is a crucial step in automatic microscopy development. Detection of bacilli present in Ziehl-Neelsen (ZN) stained sputum smears conventional microscope (CM) images is critical to disease diagnosis. Studies have revealed that the performances of FMFs are sensitive to image contents and background noise. In this article, 24 diverse FMFs were implemented on 31 stacks of CM's field of view images acquired from three different microscopes to determine the best-focused one...
June 2, 2017: Cytometry. Part A: the Journal of the International Society for Analytical Cytology
https://www.readbyqxmd.com/read/28573371/frequency-of-familial-mediterranean-fever-mefv-gene-mutations-in-patients-with-biopsy-proven-primary-glomerulonephritis
#20
Can Huzmeli, Ferhan Candan, Gokhan Bagci, Demet Alaygut, Ali Yilmaz, Asim Gedikli, Binnur Bagci, Meryem Timucin, Ilhan Sezgin, Mansur Kayatas
Primary glomerulopathies are those disorders that affect glomerular structure, function, or both in the absence of a multisystem disorder. We aimed to evaluate the frequency of MEFV gene mutation to show possible coexistence of FMF in patients diagnosed with biopsy-proven primary glomerulonephritis (GN). A total of 64 patients with biopsy-proven primary GN were included in the study. MEFV gene mutations examined retrospectively. The mean age of patients was 39.6 ± 13.4 (range 18-69), 35 of patients were female and 29 of patients were male...
June 1, 2017: Clinical Rheumatology
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