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MEN 1 syndrom

Sonia Merino, Nekane Ibarluzea, Hiart Maortua, Begoña Prieto, Idoia Rouco, Maria-Asunción López-Aríztegui, Maria-Isabel Tejada
Fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) are definitely related to the fragile X mental retardation 1 (FMR1) premutation (PM). Additional medical problems have also been associated with the PM, such as fibromyalgia, endocrine, and psychiatric disorders. To improve our understanding in the field, we reviewed all PM carriers and their reasons for any medical referrals from 104 fragile X families molecularly diagnosed in our laboratory and living in the Spanish Basque Country...
October 21, 2016: Genes
Amy E DeZern, Amer M Zeidan, John Barnard, Wesley Hand, Najla Al Ali, Francis Brown, Cassie Zimmerman, Gail J Roboz, Guillermo Garcia-Manero, David P Steensma, Rami S Komrokji, Mikkael A Sekeres
First-line therapy for higher-risk myelodysplastic syndromes (MDS) includes decitabine (DAC) or azacitidine (AZA). Variables have not identified differential response rates between these. We assessed the influence of patient sex on outcomes including overall survival (OS) in 642 patients with higher-risk MDS treated with AZA or DAC. DAC-treated patients (35% of females, 31% of males) had marginally better OS than AZA-treated patients (p = .043), (median OS of 18.7 months versus 16.4 months), but the difference varied strongly by sex...
October 24, 2016: Leukemia & Lymphoma
Finja Jockenhöfer, Katharina Herberger, Jörg Schaller, Katja Christina Hohaus, Maren Stoffels-Weindorf, Philipp Al Ghazal, Matthias Augustin, Joachim Dissemond
INTRODUCTION: Pyoderma gangrenosum (PG) is a rare neutrophilic, ulcerative skin disease of largely unknown pathophysiology. MATERIAL AND METHODS: In this study, potentially relevant cofactors and comorbidities in patients with PG from three dermatological wound care centers in Germany were evaluated. RESULTS: Of the 121 patients assessed, women (66.9 %) were more frequently affected than men. Patient age ranged from 18 to 96 years (mean 59...
October 2016: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
Pawel Szulc, Ez Zoubir Amri, Annie Varennes, Patricia Panaia-Ferrari, Eric Fontas, Joëlle Goudable, Roland Chapurlat, Véronique Breuil
AIM: Oxytocin regulates food intake, carbohydrate and lipid metabolism, and urinary sodium excretion. We assessed the association between serum oxytocin levels and presence of metabolic syndrome (MetS) in older men. METHODS: Cross-sectional study was performed in 540 volunteer men aged 50-85yrs from the MINOS cohort. Oxytocin was measured in fasting serum by radioimmunoassay (Oxytocin RIA, Phoenix Pharmaceuticals). MetS was diagnosed using the harmonized definition...
October 1, 2016: Diabetes Research and Clinical Practice
Milton Luiz Gorzoni, Sueli Luciano Pires, Lilian de Fátima Costa Faria, Márcia Regina Valadares Aguado, Miriam Carmen Santana
CONTEXT AND OBJECTIVE: A search in the SciELO and PubMed databases showed few studies on human immunodeficiency virus (HIV) positive individuals in long-term care institutions (LTCIs), thus prompting the present study. The aim of this study was to ascertain whether there were any HIV-positive individuals in LTCIs for the elderly. DESIGN AND SETTING: Cross-sectional study in which the Hospital Infection Control Committee (HICC) of a 405-bed LTCI was consulted. METHODS: The medical records of 405 individuals interned in the LTCI who had been tested for HIV infection were requested for analysis of the following variables: [1] age and gender; [2] length of stay at LTCI (months); [3] causes and diagnoses on admission to LTCI according to International Classification of Diseases, 10th edition; [4] date of HIV diagnosis; [5] seropositivity for syphilis and hepatitis B and C viruses; [6] medications used at last prescription in medical file; and [7] mean CD4 lymphocyte count based on: total lymphocyte count/6 and total lymphocyte count x 0...
October 13, 2016: São Paulo Medical Journal, Revista Paulista de Medicina
Umit Kervan, Sinan Sabit Kocabeyoglu, Dogan Emre Sert, Emre Aygün, Kemal Kavasoglu, Mehmet Karahan, Ertekin Utku Unal, Mustafa Pac
OBJECTIVES: The common femoral artery is the standard site for immediate vascular access when initiating adult venoarterial extracorporeal membrane oxygenation. However, this approach is fraught with problems such as femoral artery occlusion, distal limb ischemia, reperfusion injury resulting in compartment syndrome, retroperitoneal hemorrhage, thrombosis, embolization, and most importantly, pulmonary edema. Here, we show our preference of using the subclavian artery with a side graft as a different cannulation technique for outflow of extracorporeal membrane oxygenation, which can avoid complications associated with different access techniques...
October 14, 2016: Experimental and Clinical Transplantation
H-L Che, M S Kanthimathi, R Loganathan, K H Yuen, A T B Tan, K R Selvaduray, K Nesaretnam, K-T Teng
BACKGROUND/OBJECTIVES: Evidence shows that tocotrienols potentially reverse various chronic disease progressions caused by the metabolic syndrome. We aimed to investigate the acute effects of a single-dose supplementation of gamma and delta tocotrienols (γδ-T3, 1:4 ratio) compared with those in placebo on the insulinemic, anti-inflammatory and anti-thrombogenic responses in metabolic syndrome subjects. SUBJECTS/METHODS: Thirty metabolic syndrome subjects (15 men and 15 women) were recruited to a randomized, double-blinded and crossover study...
October 19, 2016: European Journal of Clinical Nutrition
IJsbrand T Klip, Adriaan A Voors, Dorine W Swinkels, Stephan J L Bakker, Jenny E Kootstra-Ros, Carolyn S Lam, Pim van der Harst, Dirk J van Veldhuisen, Peter van der Meer
AIMS: Heart failure (HF) is a common manifestation of patients with primary and secondary causes of iron overload, whereas in patients with established HF iron deficiency impairs outcome. Whether iron stores, either depleted or in overload, amplify the risk for new-onset HF among healthy individuals is unknown. The present study aimed to assess whether markers of iron status or the iron-regulatory hormone hepcidin are associated with new-onset HF or cardiovascular (CV) events in the general population...
October 19, 2016: European Journal of Heart Failure
Jacinthe Leclerc, Marie Arsenault, Jean-Pierre Després, Patrice Brassard, Valérie Gaudreault, Jean Bergeron, Natalie Alméras, Angelo Tremblay, Audrey Auclair, Marie-Kristelle Ross, Stéphanie Denault-Bissonnette, Paul Poirier
BACKGROUND: Abdominal obesity and presence of the metabolic syndrome (MetS) are associated with cardiac abnormalities. Among those, left ventricular diastolic dysfunction (LVDD) is the most frequently encountered in clinical practice. Few studies evaluated the reversibility of LVDD by an approach promoting lifestyle modifications in abdominally obese subjects with MetS. METHODS: We assessed the impact of a 1-year lifestyle modification program combining nutritional and physical activity counseling on LVDD and metabolic profile of abdominally obese men with MetS...
October 18, 2016: Metabolic Syndrome and related Disorders
Hiroshi Hirose, Michiyo Takayama, Ryoko Shimizu-Hirota, Yasushi Iwao, Hiroshi Kawabe
OBJECTIVE: Patients with type 2 diabetes mellitus (DM) or metabolic syndrome have a larger visceral fat area (VFA) and a higher homeostasis model assessment of insulin resistance (HOMA-IR) index; however, the associations of VFA and HOMA-IR with hypertension (HT) remains unclear. We investigated the relationships of blood pressure (BP) status with various metabolic parameters, including VFA, subcutaneous fat area (SFA) and HOMA-IR, in participants in our health checkup program. DESIGN AND METHOD: A total of 3,854 male and 2,545 female Japanese subjects, aged 16-93 years (median: 60 years), who participated in our comprehensive health checkup program between August 2012 and March 2015, were enrolled in this study...
September 2016: Journal of Hypertension
Tetsuo Yamaguchi, Takamichi Miyamoto, Takamasa Iwai, Junji Yamaguchi, Sadahiro Hijikata, Ryoichi Miyazaki, Naoyuki Miwa, Masahiro Sekigawa, Nobuhiro Hara, Yasutoshi Nagata, Toshihiro Nozato, Yasuteru Yamauchi, Toru Obayashi, Mitsuaki Isobe
BACKGROUND: The prognosis of super-elderly patients (age≥85 years) who undergo bradycardia pacemaker (PM) implantation remains unknown. METHODS: We retrospectively enrolled 868 patients (men 49.0%, 76.6±10.6 years) who could walk unassisted and whose expected life expectancy was more than 1 year, receiving their first bradycardia PM implantation between January 1, 2006, and June 30, 2013. Clinical outcomes were compared between super-elderly patients (n=201, mean age 88...
October 15, 2016: Journal of Cardiology
Marc A Bouffard, Wayne T Cornblath, Joseph F Rizzo, Michael S Lee, Lindsey B DeLott, Eric R Eggenberger, Nurhan Torun
BACKGROUND: Transient monocular vision loss (TMVL) is an alarming symptom owing to potentially serious etiologies such as thromboembolism or giant cell arteritis. Our objective is to describe the phenomenon of TMVL present on awakening, which may represent a distinct and benign entity. METHODS: We performed a retrospective observational case series of 29 patients who experienced TMVL on awakening. Patients who described monocular dimming or blackout of vision were included, and those with blurred vision, concurrent eye pain, and binocular vision loss were excluded...
September 29, 2016: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
Meghan Prin, Guohua Li
BACKGROUND: Traumatic injury is a leading cause of morbidity and mortality worldwide, but epidemiologic data about trauma patients who require intensive care unit (ICU) admission are scant. This study aimed to describe the annual incidence of ICU admission for adult trauma patients, including an assessment of risk factors for hospital complications and mortality in this population. METHODS: This was a retrospective study of adults hospitalized at Level 1 and Level 2 trauma centers after trauma and recorded in the National Trauma Data Bank in 2013...
December 2016: Injury Epidemiology
Benoît Peyronnet, Thomas Seisen, Véronique Phé, Vincent Misrai, Alexandre de la Taille, Morgan Rouprêt
AIM: To provide a systematic review of epidemiological data regarding the association between erectile dysfunction (ED) and lower urinary tract symptoms (LUTS) in men. SEARCH STRATEGY: A research has been conducted on the Medline database using the keywords: ("erectile dysfunction" or "sexual dysfunction") and ("benign prostatic hyperplasia" or "lower urinary tract symptoms"). The eligibility of studies was defined using the PICOS method in accordance with the PRISMA statement...
October 10, 2016: La Presse Médicale
Fusun Gediz, Bahriye Kadriye Payzin, Sertac Ecemis, Naile Güler, Asu Fergun Yilmaz, Fusun Topcugil, Afig Berdeli
INTRODUCTION: Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy, which develops as a result of defective activity of the alternative complement pathway and excessive complement activation due to genetic or acquired factors. No satisfactory responses were obtained by plasmapheresis, corticosteroids and fresh frozen plasma (FFP) transfusion. However, promising results are obtained in recent years by eculuzimab treatment, which inhibits C5 activation. OBJECTIVE: To evaluate the efficacy, safety and effect of eculizumab on quality of life of adult aHUS patients followed in our center...
September 30, 2016: Transfusion and Apheresis Science
Beatriz Sarriá, Sara Martínez-López, José Luis Sierra-Cinos, Luis García-Diz, Raquel Mateos, Laura Bravo-Clemente
PURPOSE: Preventive health effects of coffee could have a widespread impact on public health. Green coffee has more phenols than roasted, and thus is healthier, although with less acceptable organoleptic properties. Therefore, the effects of regularly consuming a green/roasted coffee blend (35/65) on the main components of MetS in humans were evaluated. METHODS: A crossover, randomized, controlled study was performed in 25 normocholesterolaemic and 27 hypercholesterolaemic men and women aged 18-45 years with BMI 18-25 kg/m(2)...
October 13, 2016: European Journal of Nutrition
Nathalie Behar, Bertrand Petit, Vincent Probst, Frederic Sacher, Gaelle Kervio, Jacques Mansourati, Paul Bru, Alfredo Hernandez, Philippe Mabo
AIM: Modulation of ST-segment elevation (STE) and tachyarrhythmic events by the autonomic nervous system (ANS) has been reported in patients with Brugada syndrome (BS). This study examined and compared the autonomic characteristics and STE in symptomatic vs. asymptomatic patients with BS. METHODS AND RESULT: We studied 40 symptomatic and 78 asymptomatic patients (mean age = 46.1 ± 13.7 years; 88 men) who underwent 24 h, 12-lead electrocardiograms, and exercise and a head-up tilt tests...
October 13, 2016: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
Tal Lorberbaum, Kevin J Sampson, Jeremy B Chang, Vivek Iyer, Raymond L Woosley, Robert S Kass, Nicholas P Tatonetti
BACKGROUND: QT interval-prolonging drug-drug interactions (QT-DDIs) may increase the risk of life-threatening arrhythmia. Despite guidelines for testing from regulatory agencies, these interactions are usually discovered after drugs are marketed and may go undiscovered for years. OBJECTIVES: Using a combination of adverse event reports, electronic health records (EHR), and laboratory experiments, the goal of this study was to develop a data-driven pipeline for discovering QT-DDIs...
October 18, 2016: Journal of the American College of Cardiology
Kristina Bergstedt Oscarsson, Alette Brorstad, Maria Baudin, Anne Lindberg, Annika Forssén, Magnus Evander, Marie Eriksson, Clas Ahlm
BACKGROUND: The rodent borne Puumala hantavirus (PUUV) causes haemorrhagic fever with renal syndrome in central and northern Europe. The number of cases has increased and northern Sweden has experienced large outbreaks in 1998 and 2006-2007 which raised questions regarding the level of immunity in the human population. METHODS: A randomly selected population aged between 25 and 74 years from northern Sweden were invited during 2009 to participate in a WHO project for monitoring of trends and determinants in cardiovascular disease...
October 13, 2016: BMC Infectious Diseases
I M Madaeva, O N Berdina, N V Semenova, L A Grebenkina, V V Madaev, L I Kolesnikova
AIM: To reveal gender characteristics of the sleep structure in obstructive sleep apnea syndrome (OSAS) during polysomnographic monitoring (PSGM). SUBJECTS AND METHODS: According to the results of a pre-survey using an apnea screening questionnaire, the investigation included 58 women (body mass index (BMI), 38.2±2.1 kg/m2) and 75 men (BMI, 34.2±1.8 kg/m2), aged 50-55 years, who complained about snoring, sleep apnea, and daytime hypersomnia. Copy-pair groups were formed and compared after objectively confirming the diagnosis by PSGM made at a specialized sleep laboratory, by applying the GRASS-TELEFACTOR Twin PSG system (Comet) with an integrated SPM-1 sleep module (USA) in accordance with the standard procedure...
2016: Terapevticheskiĭ Arkhiv
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