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https://www.readbyqxmd.com/read/28926523/familial-mediterranean-fever-is-associated-with-increased-mortality-after-kidney-transplantation-a-19-years-single-center-experience
#1
Hefziba Green, Shelly Lichtenberg, Ruth Rahamimov, Avi Livneh, Avry Chagnac, Eytan Mor, Benaya Rozen-Zvi
BACKGROUND: Current data regarding the outcome of kidney transplantation in patients with familial Mediterranean fever (FMF) who reach end-stage renal disease (ESRD) due to reactive amyloidosis A (AA) are scarce and inconclusive. METHODS: The outcomes of 20 patients with FMF and biopsy-proven AA amyloidosis that were transplanted between 1995 and 2014 were compared with 82 control patients (32 with diabetes mellitus and 50 with nondiabetic kidney disease). Major outcome data included overall patient and graft survivals...
October 2017: Transplantation
https://www.readbyqxmd.com/read/28926322/vitamin-d-status-serum-lipid-concentrations-and-vitamin-d-receptor-vdr-gene-polymorphisms-in-familial-mediterranean-fever
#2
Turan Turhan, Halef Okan Doğan, Nihal Boğdaycioğlu, Nilnur Eyerci, Ahmet Omma, İsmail Sari, Ahmet Yeşilyurt, Yaşar Karaaslan
Vitamin D (VitD) is critical for the regulation of inflammatory processes, and VitD deficiency has been linked to several chronic inflammatory disorders. We aimed to investigate the concentrations of serum 25(OH)D3, lipid parameters, and three known VDR polymorphisms (BsmI, FokI, and TaqI) in patients with Familial Mediterranean fever (FMF), an autosomal recessive autoinflammatory disease. The study included 123 FMF patients and 105 controls. A total of 38 patients were in acute attacks at the time of investigation...
September 18, 2017: Bosnian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/28925570/first-trimester-screening-based-on-ultrasound-and-cfdna-vs-first-trimester-combined-screening-a-randomized-controlled-study
#3
Karl Oliver Kagan, Fabrina Sroka, Jiri Sonek, Harald Abele, Kai Lüthgens, Maximilian Schmid, Philipp Wagner, Sara Brucker, Diethelm Wallwiener, Markus Hoopmann
OBJECTIVE: Prospective randomized trial to compare the performance of first trimester combined screening (FTCS) with an approach that uses the combination of a detailed ultrasound examination and cfDNA analysis. METHODS: Pregnant women with a normal first-trimester ultrasound examination at 11 to 13 weeks' gestation (fetal NT ≤3.5 mm and no fetal defects) were randomized into two groups. In the first group, the risk of aneuploidy was assessed using FTCS based on the most recent FMF UK algorithm...
September 19, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28900543/switching-to-aflibercept-in-diabetic-macular-edema-not-responding-to-ranibizumab-and-or-intravitreal-dexamethasone-implant
#4
Antoine Herbaut, Franck Fajnkuchen, Lise Qu-Knafo, Sylvia Nghiem-Buffet, Bahram Bodaghi, Audrey Giocanti-Auregan
PURPOSE: To assess short-term functional and anatomical outcomes of refractory diabetic macular edema (DME) following a switch from ranibizumab or dexamethasone to aflibercept. METHODS: We included retrospectively eyes with persistent DME after at least 3 ranibizumab and/or one dexamethasone implant intravitreal injections (IVI). The primary endpoint was the mean change in visual acuity (VA) at month 6 (M6) after switching. RESULTS: Twenty-five eyes were included...
2017: Journal of Ophthalmology
https://www.readbyqxmd.com/read/28889785/validation-of-fetal-medicine-foundation-algorithm-for-prediction-of-preeclampsia-in-the-first-trimester-in-an-unselected-brazilian-population
#5
Guilherme Antonio Rago Lobo, Paulo Martin Nowak, Ana Paula Panigassi, Angélia Iara Felipe Lima, Edward Araujo Júnior, Luciano Marcondes Machado Nardozza, David Baptista Silva Pares
OBJECTIVE: To evaluate the predictive performance of the Fetal Medicine Foundation (FMF) algorithm for prediction of preeclampsia (PE) between 11 and 14 weeks of gestation in an unselected Brazilian population. METHODS: We conducted a prospective cohort study with 617 singleton pregnancies of unselected risk. Biophysical markers (mean pulsatility index, mean arterial pressure) and biochemical markers (placental growth factor (PLGF) and PAPP-A) were inserted into the FMF software and converted into multiples of the median (MoM)...
September 10, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28878788/transcriptomic-analysis-reveals-candidate-genes-for-female-sterility-in-pomegranate-flowers
#6
Lina Chen, Jie Zhang, Haoxian Li, Juan Niu, Hui Xue, Beibei Liu, Qi Wang, Xiang Luo, Fuhong Zhang, Diguang Zhao, Shangyin Cao
Pomegranate has two types of flowers on the same plant: functional male flowers (FMF) and bisexual flowers (BF). BF are female-fertile flowers that can set fruits. FMF are female-sterile flowers that fail to set fruit and that eventually drop. The putative cause of pomegranate FMF female sterility is abnormal ovule development. However, the key stage at which the FMF pomegranate ovules become abnormal and the mechanism of regulation of pomegranate female sterility remain unknown. Here, we studied ovule development in FMF and BF, using scanning electron microscopy to explore the key stage at which ovule development was terminated and then analyzed genes differentially expressed (differentially expressed genes - DEGs) between FMF and BF to investigate the mechanism responsible for pomegranate female sterility...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28875601/can-the-thiol-disulfide-imbalance-be-a-predictor-of-colchicine-resistance-in-familial-mediterranean-fever
#7
Ahmet Omma, Sevinc Can Sandikci, Orhan Kücüksahin, Murat Alisik, Ozcan Erel
Familial Mediterranean fever (FMF) is a chronic autoinflammatory condition characterized by fever attacks and recurrent polyserositis. Subclinical inflammation that persists during attack-free periods can result in oxidative stress (OS) damage. Thiol groups bind to reactive oxygen radicals and protect cells and tissues from OS damage. The aim of this study was to investigate the relationship between thiol-disulfide balance and colchicine resistance in FMF patients during an attack or attack-free period. A newly developed spectrophotometric method was used to measure native thiol (NT) and disulfide (DS) levels in FMF patients and an age-sex matched group of healthy controls...
October 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/28871576/first-trimester-combined-screening-for-preeclampsia-and-small-for-gestational-age-a-single-centre-experience-and-validation-of-the-fmf-screening-algorithm
#8
Beatrice Mosimann, Chantal Pfiffner, Sofia Amylidi-Mohr, Lorenz Risch, Daniel Surbek, Luigi Raio
AIM OF THE STUDY: Preeclampsia (PE) is associated with severe maternal and fetal morbidity in the acute presentation and there is increasing evidence that it is also an important risk factor for cardiovascular disease later in life. Therefore, preventive strategies are of utmost importance. The Fetal Medicine Foundation (FMF) London recently developed a first trimester screening algorithm for placenta-related pregnancy complications, in particular early onset preeclampsia (eoPE) requiring delivery before 34 weeks, and preterm small for gestational age (pSGA), with a birth weight <5th percentile and delivery before 37 weeks of gestation, based on maternal history and characteristics, and biochemical and biophysical parameters...
September 5, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/28863210/alternatively-spliced-mefv-transcript-lacking-exon-2-and-its-protein-isoform-pyrin-2d-implies-an-epigenetic-regulation-of-the-gene-in-inflammatory-cell-culture-models
#9
Gokce Celikyapi Erdem, Sule Erdemir, Irem Abaci, Asli K Kirectepe Aydin, Elif Everest, Eda Tahir Turanli
The function of gene body DNA methylation in alternative splicing, and its relation to disease pathogenesis is not fully elucidated. The gene for familial Mediterranean fever (MEFV) encodes the pyrin protein and contains a 998 bp CpG island, covering the second exon, which is differentially methylated in FMF patients compared to healthy controls. Our further observation of increased exon 2-spliced MEFV transcript in leukocytes of FMF patients provoked us to test the role of exon methylation in alternative splicing using inflammatory cell culture models...
July 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28859329/familial-mediterranean-fever-in-children-and-adolescents-factors-for-colchicine-dosage-and-predicting-parameters-for-dose-increase
#10
Anne-Marie Knieper, Jens Klotsche, Elke Lainka, Thomas Berger, Frank Dressler, Annette F Jansson, Christoph Rietschel, Prasad T Oommen, Rainer Berendes, Tim Niehues, Ulrich Neudorf, Dirk Foell, Helmut Wittkowski, Tilmann Kallinich
Objectives: The aim was to analyse factors influencing the individual colchicine dose in children with FMF, to evaluate the impact of dose adjustment on the clinical course and inflammation and to identify clinical parameters and biomarkers that predict dose increase in the near future. Methods: Data from 409 paediatric FMF patients (4566 visits) derived from the national auto-inflammatory diseases registry were analysed. Serum concentrations of S100 molecules were determined by ELISA...
September 1, 2017: Rheumatology
https://www.readbyqxmd.com/read/28850663/accuracy-of-second-trimester-prediction-of-preterm-preeclampsia-by-three-different-screening-algorithms
#11
Ahmed Al-Amin, Daniel Lorber Rolnik, Carin Black, Adrienne White, Caroline Stolarek, Shaun Brennecke, Fabricio da Silva Costa
AIM: To compare the performance of three different screening methods (National Institute for Health and Clinical Excellence (NICE) guidelines, American College of Obstetricians and Gynecologists (ACOG) recommendations and Fetal Medicine Foundation (FMF) algorithm) for second trimester prediction of preeclampsia. METHODS: This was a prospective non-intervention study in singleton pregnancies, including women attending for second trimester morphologic ultrasound at 19-22 weeks...
August 29, 2017: Australian & New Zealand Journal of Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28835462/a-novel-pyrin-associated-autoinflammation-with-neutrophilic-dermatosis-mutation-further-defines-14-3-3-binding-of-pyrin-and-distinction-to-familial-mediterranean-fever
#12
Fiona Moghaddas, Rafael Llamas, Dominic De Nardo, Helios Martinez-Banaclocha, Juan J Martinez-Garcia, Pablo Mesa-Del-Castillo, Paul J Baker, Vanessa Gargallo, Anna Mensa-Vilaro, Scott Canna, Ian P Wicks, Pablo Pelegrin, Juan I Arostegui, Seth L Masters
OBJECTIVE: Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis (PAAND) is a recently described monogenic autoinflammatory disease. The causal p.S242R MEFV mutation disrupts a binding motif of the regulatory 14-3-3 proteins within pyrin. Here, we investigate a family with clinical features consistent with PAAND in whom the novel p.E244K MEFV mutation, located in the +2 site of the 14-3-3 binding motif in pyrin, has been found. METHODS: Multiplex cytokine analyses were performed on p...
August 23, 2017: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/28828621/familial-mediterranean-fever-in-childhood-a-single-center-experience
#13
Kenan Barut, Sezgin Sahin, Amra Adrovic, Ada Bulut Sinoplu, Gozde Yucel, Gizem Pamuk, Aslı Kirectepe Aydın, Selcuk Dasdemir, Eda Tahir Turanlı, Nur Buyru, Ozgur Kasapcopur
The aim of this study is to present demographic and clinical features, MEFV mutation variations, and treatment response of a large number of pediatric familial Mediterranean fever (FMF) patients from a single tertiary centre. Moreover, we aimed to investigate the current outcome of FMF, namely frequency of amyloidosis in children with FMF. We evaluated 708 FMF patients who were followed up in our clinic and who were under colchicine treatment for at least 6 months. The data were recorded from patient records and also verified by negotiations with patients and parents...
August 21, 2017: Rheumatology International
https://www.readbyqxmd.com/read/28798694/decomposing-multifractal-crossovers
#14
Zoltan Nagy, Peter Mukli, Peter Herman, Andras Eke
Physiological processes-such as, the brain's resting-state electrical activity or hemodynamic fluctuations-exhibit scale-free temporal structuring. However, impacts common in biological systems such as, noise, multiple signal generators, or filtering by transport function, result in multimodal scaling that cannot be reliably assessed by standard analytical tools that assume unimodal scaling. Here, we present two methods to identify breakpoints or crossovers in multimodal multifractal scaling functions. These methods incorporate the robust iterative fitting approach of the focus-based multifractal formalism (FMF)...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28781304/cold-exposure-related-fever-with-an-mediterranean-fever-mefv-gene-mutation
#15
Shima Kumei, Tsukasa Nozu, Masumi Ohira, Saori Miyagishi, Toshikatsu Okumura
Familial Mediterranean fever (FMF) is a genetic autoinflammatory disease characterized by recurrent fever with serosal inflammation. We experienced a 53-year-old male who had been suffering from periodic attacks with slight fever and myalgia which were mainly triggered by cold exposure in winter. Although his clinical course did not satisfy the criteria for familial Mediterranean fever, heterozygous E148Q/M694I mutation in the Mediterranean fever (MEFV) gene was detected. Further attacks were prevented by treatment with colchicine...
August 15, 2017: Internal Medicine
https://www.readbyqxmd.com/read/28765740/aortic-flow-propagation-velocity-in-patients-with-familial-mediterranean-fever-an-observational-study
#16
Kayihan Karaman, Arif Arisoy, Aysegul Altunkas, Ertugrul Erken, Ahmet Demirtas, Mustafa Ozturk, Metin Karayakali, Safak Sahin, Atac Celik
BACKGROUND AND OBJECTIVES: Systemic inflammation has an important role in the initiation of atherosclerosis, which is associated with arterial stiffness (AS). Aortic flow propagation velocity (APV) is a new echocardiographic parameter of aortic stiffness. The relationship between systemic inflammation and AS has not yet been described in patients with familial Mediterranean fever (FMF). We aimed to investigate the early markers of AS in patients with FMF by measuring APV and carotid intima-media thickness (CIMT)...
July 2017: Korean Circulation Journal
https://www.readbyqxmd.com/read/28763406/massive-pericardial-effusion-and-tamponade-can-be-a-first-sign-of-familial-mediterranean-fever
#17
Tamer Yoldaş, Şeyma Kayali, İlker Ertuğrul, Vehbi Doğan, Utku Arman Örün, Selmin Karademir
Cardiac involvement is a rare initial presentation of familial Mediterranean fever (FMF). We described 2 children with massive pericardial effusion and cardiac tamponade, who were later diagnosed as having FMF based on clinical and laboratory findings. Therefore, in children presenting with massive pericardial effusion, FMF should be considered as one of the differential diagnoses. In addition, massive pericardial effusion is a serious clinical condition that requires emergency therapeutic approach including pericardiocenthesis...
August 1, 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/28759086/assessment-of-myocardial-repolarisation-parameters-in-patients-with-familial-mediterranean-fever
#18
Kayihan Karaman, Metin Karayakali, Ertuğrul Erken, Ahmet Demirtaş, Mustafa Öztürk, Fatih Altunkaş, Arif Arisoy, Oğuzhan Ekrem Turan, Köksal Ceyhan, Ataç Çelik
BACKGROUND: Familial Mediterranean fever (FMF) is a chronic, recurrent auto-inflammatory disease characterised by self-terminating attacks of fever and sterile polyserositis. The main cause of death in auto-inflammatory diseases is cardiovascular events. Additionally, auto-inflammatory diseases have potential effects on the myocardial repolarisation parameters, including the T-wave peak-to-end (Tp-Te) interval, cTp-Te interval (corrected Tp-Te) and the cTp-Te/QT ratio. The aim of this study was to analyse the efficacy of myocardial repolarisation alterations in anticipation of cardiovascular risks in patients with FMF...
May 2017: Cardiovascular Journal of Africa
https://www.readbyqxmd.com/read/28752409/-il-1-blockade-with-anakinra-during-pregnancy-retrospective-analysis-of-efficacy-and-safety-in-female-patients-with-familial-mediterranean-fever
#19
N Venhoff, R E Voll, C Glaser, J Thiel
OBJECTIVE: To retrospectively assess and analyze the clinical efficacy and safety of off-label interleukin-1 (IL-1) blockade with anakinra during pregnancy of patients with familial Mediterranean fever (FMF). METHODS: Retrospective analysis of clinical and laboratory parameters making use of an electronic database system. Detailed descriptions of the genotype and phenotype of FMF are given and the course of the pregnancy and fetal development are reported. RESULTS: The data of three patients and a total of four pregnancies under treatedment with anakinra were analyzed...
July 27, 2017: Zeitschrift Für Rheumatologie
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
#20
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
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