keyword
MENU ▼
Read by QxMD icon Read
search

fmf

keyword
https://www.readbyqxmd.com/read/28341008/serum-vitamin-d-level-in-egyptian-children-with-familial-mediterranean-fever
#1
Hala M Lotfy, Huda Marzouk, Yomna Farag, Ahmed Salah, Heba Taher, Mohamed Nabih, Laila Rashed, Kamal El-Garf
BACKGROUND: The aim of the study is to measure plasma vitamin D levels in a group of Egyptian children with familial Mediterranean fever (FMF) compared to healthy children. METHODS: The study enrolled 52 children with FMF and 40 apparently healthy controls. Serum vitamin D level was measured by enzyme-linked immunosorbent assay. RESULTS: The mean serum vitamin D level was significantly lower in children with FMF than control group (12.3±3...
March 21, 2017: Immunology Letters
https://www.readbyqxmd.com/read/28340799/is-there-a-long-term-risk-for-donors-with-heterozygous-mefv-mutation-after-kidney-donation
#2
S Karakose, S Erdogmus, S Akturk, A Tuzuner, S Sengul, K Keven
BACKGROUND: Familial Mediterranean fever (FMF) is an autosomal-recessive autoinflammatory disorder manifested severely by systemic amyloidosis. It has been hypothesized that heterozygous carriers may also have susceptibility to certain symptoms or even diseases. Because the living kidney donors of patients with FMF are generally relatives of the kidney recipients, there is a high possibility that the donors will have a heterozygous mutation of the FMF gene. The goal of this study was to investigate the long-term kidney function of donors who are carriers of the Mediterranean fever (MEFV) gene...
April 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/28342915/redd1-links-stress-with-il-1%C3%AE-mediated-familial-mediterranean-fever-attack-through-autophagy-driven-neutrophil-extracellular-traps
#3
Panagiotis Skendros, Akrivi Chrysanthopoulou, François Rousset, Konstantinos Kambas, Athanasios Arampatzioglou, Alexandros Mitsios, Veronique Bocly, Theocharis Konstantinidis, Philippe Pellet, Iliana Angelidou, Eirini Apostolidou, Dimitrios Ritis, Victoria Tsironidou, Sotiris Galtsidis, Charalampos Papagoras, Dimitrios Stakos, Georgios Kouklakis, Vasiliki Dalla, Maria Koffa, Ioannis Mitroulis, Ioannis Theodorou, Konstantinos Ritis
BACKGROUND: Familial Mediterranean fever (FMF) is an IL-1β-dependent autoinflammatory disease caused by mutations of MEFV encoding pyrin, and characterised by inflammatory attacks, induced by physical or psychological stress. OBJECTIVE: We investigate the underlying mechanism that links stress-induced inflammatory attacks with neutrophil activation and release of IL-1β-bearing neutrophil extracellular traps (NETs) in FMF. METHODS: RNA-seq was performed in peripheral neutrophils from 3 FMF patients, isolated both during attack and remission, 8 patients in remission and 8 healthy individuals...
March 22, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28319450/retinal-and-choroidal-thickness-in-adult-patients-with-familial-mediterranean-fever
#4
Tolga Bicer, Osman Celikay, Mustafa Kosker, Muhammed Yunus Alp, Cem Ozisler, Ahmet Yesilyurt, Burcu Kucuk Bicer, Canan Gurdal
PURPOSE: We aimed to evaluate changes in retinal, choroidal, ganglion cell complex (GCC) and retinal nerve fiber layer (RNFL) thicknesses in genetically diagnosed adult patients with familial Mediterranean fever (FMF). METHODS: A total of 50 eyes of 50 genetically diagnosed patients with FMF and 50 eyes of controls were analyzed. Patients were recruited from the Genetic Diagnostic Center of Dışkapı Yıldırım Beyazıt Research and Training Hospital, Turkey. Retinal and choroidal thicknesses were obtained using spectral-domain optical coherence tomography from choroid, retina, GCC, and RNFL...
March 20, 2017: Ophthalmic Epidemiology
https://www.readbyqxmd.com/read/28302131/a-survey-of-resistance-to-colchicine-treatment-for-french-patients-with-familial-mediterranean-fever
#5
REVIEW
Alice Corsia, Sophie Georgin-Lavialle, Véronique Hentgen, Eric Hachulla, Gilles Grateau, Albert Faye, Pierre Quartier, Linda Rossi-Semerano, Isabelle Koné-Paut
BACKGROUND: Colchicine is the standard treatment for familial Mediterranean fever (FMF), preventing attacks and inflammatory complications. True resistance is rare and yet not clearly defined. We evaluated physicians' definition of colchicine resistance and report how they manage it. PATIENTS AND METHODS: We recruited patients with a clinical diagnosis of FMF, one exon-10 Mediterranean fever (MEFV) gene mutation and considered resistant to colchicine, via networks of expert physicians...
March 16, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28295782/multicenter-screening-for-preeclampsia-by-maternal-factors-and-biomarkers-at-11-13-weeks-gestation-comparison-to-nice-guidelines-and-acog-recommendations
#6
Neil O' Gorman, David Wright, Liona C Poon, Daniel L Rolnik, Argyro Syngelaki, Mercedes de Alvarado, Ilma F Carbone, Vivien Dutemeyer, Madgalena Fiolna, Alex Frick, Natalia Karagiotis, Sofia Mastrodima, Catalina de Paco Matallana, George Papaioannou, Andrea Pazos, Walter Plasencia, Kypros H Nicolaides
OBJECTIVE: To compare the performance of screening for preeclampsia (PE) based on risk factors from the medical history, as recommended by NICE and ACOG, with the method proposed by the Fetal Medicine Foundation (FMF), which uses Bayes theorem to combine the a priori risk from maternal factors, derived by a multivariable logistic model, with the results of various combinations of biophysical and biochemical measurements. METHODS: This was a prospective multicenter study of screening for PE in 8,775 singleton pregnancies at 11-13 weeks' gestation...
March 10, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28293457/anakinra-use-during-pregnancy-report-of-a-case-with-familial-mediterranean-fever-and-infertility
#7
Ufuk İlgen, Orhan Küçükşahin
Familial Mediterranean fever (FMF), affecting people of Mediterranean origin, is an endemic and sometimes problematic disease because of colchicine resistance/intolerance, with relative lack of treatment alternatives, and disease- or treatment-related issues, such as subfertility. Anakinra, being a rational and effective treatment alternative, has no conclusive human pregnancy data. Here we report a case of FMF with infertility who became pregnant with in vitro fertilization (IVF) under treatment with anakinra, along with the pregnancy outcome...
March 2017: European Journal of Rheumatology
https://www.readbyqxmd.com/read/28289585/the-mefv-gene-pathogenic-variants-and-phenotype-genotype-correlation-in-children-with-familial-mediterranean-fever-in-the-%C3%A3-anakkale-population
#8
F Battal, F Silan, N Topaloğlu, H Aylanç, Ş Yıldırım, F Köksal Binnetoğlu, M Tekin, N Kaymaz, O Ozdemir
The aim of the current study was to determine the frequency of the Mediterranean fever (MEFV) gene pathogenic variants in 60 children diagnosed with familial Mediterranean fever (FMF) and to compare the phenotype-genotype correlation. Genomic DNA was isolated by the spin-column method from peripheral blood samples (collected in vacutainers containing EDTA) and buccal smears. The MEFV gene profiles for the current FMF cohort were genotyped by pyrosequencing and direct Sanger sequencing techniques for the target pathogenic variants...
December 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28260482/late-diagnosis-of-e148q-mutation-positive-familial-mediterranean-fever-in-a-kidney-transplant-patient-with-fever-of-unknown-origin-a-case-report
#9
Erhan Tatar, Adam Uslu, Cenk Simsek, Ahmet Aykas, Giray Bozkaya, Cetin Imamoglu
Fever of unknown origin is a rare condition after solid organ transplant and is generally associated with atypical infections (eg, tuberculosis, fungal infections) and/or lymphoproliferative disorders. Here, we present a kidney transplant patient with a late diagnosis of E148Q mutation-positive familial Mediterranean fever as the cause of fever of unknown origin. A 22-year-old female patient with a previous history of 4 years of hemodialysis and unknown primary renal disease received a deceased-donor kidney transplant at our center 5 years previously...
February 2017: Experimental and Clinical Transplantation
https://www.readbyqxmd.com/read/28252867/vernachl%C3%A3-ssigte-klinische-merkmale-der-follikulotropen-mycosis-fungoides-eine-gro%C3%A3-e-klinische-fallserie
#10
Can Baykal, Tugba Atci, Sule Ozturk Sari, Algun Polat Ekinci, Nesimi Buyukbabani
HINTERGRUND UND ZIEL: Als seltene Form der Mycosis fungoides (MF), ist die follikulotrope MF (FMF) durch ein breites Spektrum klinischer Symptome gekennzeichnet. Dazu gehören, neben den vorherrschenden follikulären Läsionen, auch viele atypische Manifestationen. Das Ziel der vorliegenden Studie war eine klinische Bewertung von FMF-Patienten, unter besonderer Berücksichtigung von vernachlässigten dermatologischen Merkmalen. PATIENTEN UND METHODIK: Insgesamt wurden 27 FMF-Patienten aus dem 572 Patienten umfassenden MF-Register unserer Abteilung retrospektiv bezüglich ihrer Demographie sowie der klinischen Merkmale, Behandlungsformen, Nachsorge und Therapieergebnisse bewertet...
March 2017: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
https://www.readbyqxmd.com/read/28241574/demonstration-of-analog-links-using-spatial-modes-in-km-scale-few-mode-fiber
#11
Jing Du, Dequan Xie, Chen Yang, Jian Wang
Analog links in a 5-km few mode fiber (FMF) are experimentally investigated by exploiting fundamental and high-order linearly polarized (LP) and OAM modes (LP<sub>01</sub>, LP<sub>11a</sub>, LP<sub>11b</sub>, OAM<sub>+1</sub>, OAM<sub>-1</sub>). We use spurious free dynamic range (SFDR) of the second-order harmonic distortion (SHD) to evaluate the analog transmission performance. The dependence of analog link performance on the mode relative loss (MRL) between the fundamental and high-order LP and OAM modes is studied...
February 20, 2017: Optics Express
https://www.readbyqxmd.com/read/28240409/underrecognized-clinical-features-of-folliculotropic-mycosis-fungoides-a-large-clinical-series
#12
Can Baykal, Tugba Atci, Sule Ozturk Sari, Algun Polat Ekinci, Nesimi Buyukbabani
BACKGROUND AND OBJECTIVE: A rare variant of mycosis fungoides (MF), folliculotropic MF (FMF) is characterized by a broad clinical spectrum that primarily includes follicle-based lesions but also many atypical clinical manifestations. The objective of the present study was to conduct a clinical analysis of patients with FMF, with a particular focus on highlighting underrecognized dermatological features. PATIENTS AND METHODS: Overall, 27 FMF patients enrolled in our department';s MF registry, which includes 572 patients, were retrospectively reevaluated with regard to demographics, clinical features, treatment modalities, follow-up, and outcomes...
February 27, 2017: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
https://www.readbyqxmd.com/read/28229824/normal-arterial-stiffness-in-familial-mediterranean-fever-evidence-for-a-possible-cardiovascular-protective-role-of-colchicine
#13
Olga Kukuy, Avi Livneh, Liran Mendel, Ariel Benor, Eitan Giat, Oleg Perski, Olga Feld, Yonatan Kassel, Ilan Ben-Zvi, Merav Lidar, Eliezer J Holtzman, Adi Leiba
OBJECTIVES: Familial Mediterranean fever (FMF) is an autoinflammatory disorder with episodic and persistent inflammation, which is only partially suppressed by continuous colchicine treatment. While chronic inflammation is considered an important cardiovascular risk factor in many inflammatory disorders, its impact in FMF is still disputed. We measured arterial stiffness, a marker of atherosclerotic cardiovascular disease, in a group of FMF patients, in order to evaluate the cardiovascular consequences of inflammation in FMF and the role of colchicine in their development...
February 9, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28211254/egyptian-tale-from-india-application-of-whole-exome-sequencing-in-diagnosis-of-atypical-familial-mediterranean-fever
#14
Pulukool Sandhya, Shamsudheen Karuthedath Vellarikkal, Aswin Nair, Rowmika Ravi, John Mathew, Rijith Jayarajan, Anoop Kumar, Ankit Verma, Ambily Sivadas, Debashish Danda, Sridhar Sivasubbu, Vinod Scaria
Clinical diagnosis of autoinflammatory diseases requires a high degree of clinical suspicion and clinching molecular evidence to substantiate the diagnosis. This is more so in populations with low prevalence of these disorders. In this report, we describe the case of a young man from India with recurrent fever and persistent arthritis. The patient's forefathers were of Egyptian ancestry who practiced consanguinity. Molecular genetic analysis using whole-exome sequencing suggested the presence of variants c...
February 17, 2017: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/28195897/base-of-skull-blocks-for-open-reduction-and-internal-fixation-of-faciomaxillary-fractures
#15
Sandeep Mehrotra, Sunil Anand
INTRODUCTION: Faciomaxillary fractures (FMF) occur in a significant proportion of trauma patients. Nearly all polytrauma patients and even those with isolated FMF are managed under general anesthesia for definitive management. We propose the use of regional nerve blocks as a safe and effective means for open reduction and fixation of isolated FMF. AIM AND OBJECTIVES: The aim is to evaluate the feasibility, effectiveness and safety of base of skull maxillomandibular and distal trigeminal nerve blocks in the management of FMF...
February 14, 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/28194777/familial-mediterranean-fever-patients-with-hidradenitis-suppurativa
#16
Secil Vural, Mustafa Gundogdu, Nihal Kundakci, Thomas Ruzicka
BACKGROUND: Hidradenitis suppurativa (HS) has recently been described as a component of two autoinflammatory syndromes: PASH (pyoderma gangrenosum, acne, and HS) and PAPASH (pyoderma gangrenosum, acne, pyogenic arthritis, and HS). These associations together with others such as inflammatory bowel diseases suggest that defects in autoinflammatory pathways may play a role in the pathogenesis of HS. OBJECTIVES: To describe clinical and genetic characteristics of two unrelated patients with HS and familial Mediterranean fever (FMF)...
February 14, 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28191008/the-nlrp3-and-pyrin-inflammasomes-implications-in-the-pathophysiology-of-autoinflammatory-diseases
#17
REVIEW
Carlos de Torre-Minguela, Pablo Mesa Del Castillo, Pablo Pelegrín
Inflammasomes are multiprotein complexes that critically control different aspects of innate and adaptive immunity. Among them we could highlight the release of pro-inflammatory cytokines that induce and maintain the inflammatory response. Usually, inflammasomes result from oligomerization of a nucleotide-binding domain-like receptor (NLR) after sensing different pathogenic or endogenous sterile dangerous signals; however, other proteins such as absent in melanoma 2, retinoic acid-inducible gene I, or pyrin could also form inflammasome platforms...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28178435/an-up-to-date-approach-to-a-patient-with-a-suspected-autoinflammatory-disease
#18
REVIEW
Merav Lidar, Eitan Giat
Autoinflammatory diseases (AID) are characterized by seemingly unprovoked self-limited attacks of fever and systemic inflammation potentially leading to amyloidosis. Familial Mediterranean fever (FMF) is the most common AID and therefore the most studied. Besides FMF, the other main hereditary AID are tumor necrosis factor-associated periodic fever syndrome (TRAPS), mevalonate kinase deficiency (MKD), and cryopyrin-associated periodic fever syndrome (CAPS). These hereditary diseases result from a mutant gene that is involved in the regulation of inflammation, resulting in a characteristic clinical phenotype...
January 30, 2017: Rambam Maimonides Medical Journal
https://www.readbyqxmd.com/read/28165838/microarray-analysis-of-circulating-micrornas-in-familial-mediterranean-fever
#19
Taizo Wada, Tomoko Toma, Yusuke Matsuda, Akihiro Yachie, Saori Itami, Yoshihiro Taguchi, Yoshiki Murakami
OBJECTIVES: Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by mutations in MEFV. Mutations in exon 10 are associated with typical FMF phenotypes, whereas the pathogenic role of variants in exons 2 and 3 remains uncertain. Recent evidence suggests that circulating microRNAs are potentially useful biomarkers in several diseases. Therefore, their expression was assessed in FMF. METHODS: The subjects were 24 patients with FMF who were between attacks: 8 with exon 10 mutations (group A), 8 with exon 3 mutations (group B), and 8 without exon 3 or 10 mutations (group C)...
February 6, 2017: Modern Rheumatology
https://www.readbyqxmd.com/read/28157969/second-order-few-mode-raman-amplifier-for-mode-division-multiplexed-optical-communication-systems
#20
Jiaxiong Li, Jiangbing Du, Lin Ma, Ming-Jun Li, Ke Xu, Zuyuan He
We experimentally demonstrate and investigate, for first time to our best knowledge, a second-order few-mode Raman amplifier for low noise distributed fiber amplification. The 1455 and 1360 nm pumps are both injected into the few-mode fiber (FMF) in the forms of two degenerate LP<sub>11</sub> modes in the backward direction. Within the band from 1542 to 1558 nm, maximum on-off gains of 4 dB are achieved for both LP<sub>01</sub> and LP<sub>11</sub> modes, and the differential modal gain (DMG) is less than 0...
January 23, 2017: Optics Express
keyword
keyword
2790
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"