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https://www.readbyqxmd.com/read/28646318/primary-renal-paragangliomas-and-renal-neoplasia-associated-with-pheochromocytoma-paraganglioma-analysis-of-von-hippel-lindau-vhl-succinate-dehydrogenase-sdhx-and-transmembrane-protein-127-tmem127
#1
Sounak Gupta, Jun Zhang, Dragana Milosevic, John R Mills, Stefan K Grebe, Steven C Smith, Lori A Erickson
Alterations of von Hippel-Lindau (VHL), succinate dehydrogenase (SDHX), and TMEM127 have been associated with the development of pheochromocytomas (PCs) and paragangliomas (PGLs) and are also associated with the development of renal neoplasms. This study involved 2 primary renal PGL and 12 cases of PC/PGL with associated renal neoplasia with a mean follow up of 74 months. Germline VHL and SDHX mutation status was obtained from the medical record. Immunohistochemistry for SDHB and mutation analysis for TMEM127 was performed, in addition to analysis of The Cancer Genome Atlas datasets for SDHX and TMEM127 mutated renal cell carcinomas (RCCs)...
June 23, 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28642559/little-evidence-to-support-or-refute-interventions-for-the-management-of-burning-mouth-syndrome
#2
Debra K Fischoff, Silvia Spivakovsky
Data sourcesCochrane Oral Health's Trials Register, Cochrane Central Register of Controlled Trials (CENTRAL), Medline Ovid, Embase Ovid, US National Institutes of Health Ongoing Trials Register (ClinicalTrials.gov) and the World Health Organization International Clinical Trials Registry Platform. Handsearch of the proceedings from the British Society for Oral Medicine (BSOM), British Society for Dental Research (BSDR) and the International Association for Dental Research (IADR).Study selectionAll included studies were randomised placebo controlled trials comparing a treatment to placebo with no language or year of publication restrictions...
June 23, 2017: Evidence-based Dentistry
https://www.readbyqxmd.com/read/28639438/body-composition-analysis-to-study-long-term-training-effects-in-elite-male-water-polo-athletes
#3
Giovanni Melchiorri, Valerio Viero, Roberto Sorge, Tamara Triossi, Alessandro Campagna, Stella L Volpe, Dalgisio Lecis, Virginia Tancredi, Angela Andreoli
BACKGROUND: Elite water polo athletes undergo heavy training programs throughout the year, but especially to prepare major competitions, such as the Olympics. Optimal athletic performance is a result of many factors, including proper management of the intensity and volume of training, nutrition and recovery between training sessions. When training is excessive in relation to recovery may occur non functional overreaching (NFO). NFO can degenerate into overtraining syndrome (OTS) resulting in a decrease in athletic performance, with likely changes in body weight and body composition...
June 21, 2017: Journal of Sports Medicine and Physical Fitness
https://www.readbyqxmd.com/read/28637445/cerebellar-mutism-syndrome-in-children-with-brain-tumours-of-the-posterior-fossa
#4
Morten Wibroe, Johan Cappelen, Charlotte Castor, Niels Clausen, Pernilla Grillner, Thora Gudrunardottir, Ramneek Gupta, Bengt Gustavsson, Mats Heyman, Stefan Holm, Atte Karppinen, Camilla Klausen, Tuula Lönnqvist, René Mathiasen, Pelle Nilsson, Karsten Nysom, Karin Persson, Olof Rask, Kjeld Schmiegelow, Astrid Sehested, Harald Thomassen, Ingrid Tonning-Olsson, Barbara Zetterqvist, Marianne Juhler
BACKGROUND: Central nervous system tumours constitute 25% of all childhood cancers; more than half are located in the posterior fossa and surgery is usually part of therapy. One of the most disabling late effects of posterior fossa tumour surgery is the cerebellar mutism syndrome (CMS) which has been reported in up to 39% of the patients but the exact incidence is uncertain since milder cases may be unrecognized. Recovery is usually incomplete. Reported risk factors are tumour type, midline location and brainstem involvement, but the exact aetiology, surgical and other risk factors, the clinical course and strategies for prevention and treatment are yet to be determined...
June 21, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28632743/in-silico-assessment-of-the-effects-of-quinidine-disopyramide-and-e-4031-on-short-qt-syndrome-variant-1-in-the-human-ventricles
#5
Cunjin Luo, Kuanquan Wang, Henggui Zhang
AIMS: Short QT syndrome (SQTS) is an inherited disorder associated with abnormally abbreviated QT intervals and an increased incidence of atrial and ventricular arrhythmias. SQT1 variant (linked to the rapid delayed rectifier potassium channel current, IKr) of SQTS, results from an inactivation-attenuated, gain-of-function mutation (N588K) in the KCNH2-encoded potassium channels. Pro-arrhythmogenic effects of SQT1 have been well characterized, but less is known about the possible pharmacological antiarrhythmic treatment of SQT1...
2017: PloS One
https://www.readbyqxmd.com/read/28629660/characterization-and-risk-factors-for-aortic-dilatation-in-pediatric-patients-with-bicuspid-aortic-valve
#6
Anna Sabaté-Rotés, Laura Sabidó Sanchez, Ferran Gran Ipiña, Dimpna Albert Brotons, Raúl F Abella, Ferran Rosés Noguer
INTRODUCTION AND OBJECTIVES: Dilatation of the ascending aorta associated with bicuspid aortic valve is a major cause of morbidity and mortality in adults. The main objective was to recognize the aortic involvement in children, its characteristics and risk factors. METHODS: Aortic measures of all pediatric patients with bicuspid aortic valve followed in a tertiary pediatric hospital between 1997 and 2015 were retrospectively taken. Patients with syndromes associated with aortic dilatation were excluded (n=17)...
June 16, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28617204/is-the-clinical-high-risk-state-a-valid-concept-retrospective-examination-in-a-first-episode-psychosis-sample
#7
Jai L Shah, Anne Crawford, Sally S Mustafa, Srividya N Iyer, Ridha Joober, Ashok K Malla
OBJECTIVE: One reason for worldwide interest in the clinical high-risk (CHR) state for psychosis is its potential as a target for prevention. However, the feasibility and utility of early intervention initiatives that are focused on this stage involve an untested assumption: that most patients with a first episode of psychosis (FEP) experience earlier CHR symptoms. The objective of this study was to identify and characterize the proportion of FEP patients who had experienced such symptoms prior to the onset of their psychosis...
June 15, 2017: Psychiatric Services: a Journal of the American Psychiatric Association
https://www.readbyqxmd.com/read/28616831/invasive-prenatal-diagnostic-testing-recommendations-are-influenced-by-maternal-age-statistical-misconception-and-perceived-liability
#8
Talya Miron-Shatz, Sivan R Rapaport, Naama Srebnik, Yaniv Hanoch, Jonina Rabinowitz, Glen M Doniger, Linda Levi, Jonathan J Rolison, Avi Tsafrir
Funding policy and medico-legal climate are part of physicians' reality and might permeate clinical decisions. This study evaluates the influence of maternal age and government funding on obstetrician/gynecologist recommendation for invasive prenatal testing (i.e. amniocentesis) for Down syndrome (DS), and its association with the physician's assessment of the risk of liability for medical malpractice unless they recommend amniocentesis. Israeli physicians (N = 171) completed a questionnaire and provided amniocentesis recommendations for women at 18 weeks gestation with normal preliminary screening results, identical except aged 28 and 37...
June 14, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28603519/antigen-sparing-and-enhanced-efficacy-of-multivalent-vaccines-adjuvanted-with-immunopotentiators-in-chickens
#9
Peipei Wu, Jihu Lu, Lei Feng, Hongzhuan Wu, Xuehua Zhang, Mei Mei, Jibo Hou, Xiufan Liu, Yinghua Tang
We previously described that immunopotentiators, CVCVA5, increased the efficacy of H5 and H9 subtype avian influenza vaccines in chickens, ducks, and geese. In this study, we further investigated the effects of the CVCVA5 for improving the efficacy of other univalent or multivalent inactivated vaccines. The immune response administrated with half-dose of monovalent vaccine plus CVCVA5 were higher than those of one dose of monovalent vaccine without immunopotentiators as measured by levels of antibodies from serum, tears and bronchoalveolar lavage fluids, and cytokines of IFNγ and IL-4 from serum...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28594494/carpal-tunnel-syndrome-initial-management-and-the-treatment-of-recalcitrant-patients
#10
Karan Dua, A Lee Osterman, Joshua M Abzug
Carpal tunnel syndrome (CTS) is a focal compressive neuropathy of the median nerve at the level of the wrist. CTS is the most common type of compressive neuropathy that occurs in the upper extremity. Typically, patients with CTS have paresthesia, pain, and numbness in the radial three and one-half digits. Nighttime symptoms are more common earlier in the disease process, with daytime symptoms becoming more frequent as CTS progresses. Electrodiagnostic studies may be performed to confirm a diagnosis of CTS or to obtain a baseline before surgical treatment; however, electrodiagnostic studies may be normal in a subset of patients who have CTS...
February 15, 2017: Instructional Course Lectures
https://www.readbyqxmd.com/read/28592328/severe-varicella-zoster-virus-pneumonia-a-multicenter-cohort-study
#11
Adrien Mirouse, Philippe Vignon, Prescillia Piron, René Robert, Laurent Papazian, Guillaume Géri, Pascal Blanc, Christophe Guitton, Claude Guérin, Naïke Bigé, Antoine Rabbat, Aurélie Lefebvre, Keyvan Razazi, Muriel Fartoukh, Eric Mariotte, Lila Bouadma, Jean-Damien Ricard, Amélie Seguin, Bertrand Souweine, Anne-Sophie Moreau, Stanislas Faguer, Arnaud Mari, Julien Mayaux, Francis Schneider, Annabelle Stoclin, Pierre Perez, Julien Maizel, Charles Lafon, Frédérique Ganster, Laurent Argaud, Christophe Girault, François Barbier, Lucien Lecuyer, Jérôme Lambert, Emmanuel Canet
BACKGROUND: Pneumonia is a dreaded complication of varicella-zoster virus (VZV) infection in adults; however, the data are limited. Our objective was to investigate the clinical features, management, and outcomes of critically ill patients with VZV-related community-acquired pneumonia (VZV-CAP). METHODS: This was an observational study of patients with VZV-CAP admitted to 29 intensive care units (ICUs) from January 1996 to January 2015. RESULTS: One hundred and two patients with VZV-CAP were included...
June 7, 2017: Critical Care: the Official Journal of the Critical Care Forum
https://www.readbyqxmd.com/read/28589207/prediction-and-in-vitro-verification-of-potential-ctl-epitopes-conserved-among-prrsv-2-strains
#12
Simon Welner, Morten Nielsen, Michael Rasmussen, Søren Buus, Gregers Jungersen, Lars Erik Larsen
Porcine Reproductive and Respiratory Syndrome Virus (PRRSV) is the causative agent of one of the most important porcine diseases with a high impact on animal health, welfare, and production economy. PRRSV exhibits a multitude of immunoevasive strategies that, in combination with a very high mutation rate, has hampered the development of safe and broadly protective vaccines. Aiming at a vaccine inducing an effective cytotoxic T cell response, a bioinformatics approach was taken to identify conserved PRRSV-derived peptides predicted to react broadly with common swine leukocyte antigen (SLA) class I alleles...
June 7, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28585788/-intestinal-complications-in-twin-to-twin-transfusion-syndrome-ttts-treated-by-laser-coagulation-lc
#13
A Sánchez-Galán, J L Encinas, E Antolín, A Vilanova, M Dore, P Triana, J L Bartha, M López-Santamaría
AIM OF THE STUDY: The hemodynamic imbalance due to placental vascular anastomoses in TTTS but also vascular changes generated after intrauterine treatment may lead to hypoxic-ischemic complications. Different intestinal complications in TTTS are reviewed in this paper. METHODS: Retrospective review of TTTS cases treated by laser coagulation (LC) from 2012-2015. Demographic data, fetal therapy, prenatal diagnosis (US, MRI) and perinatal outcome were recorded. We describe cases with intestinal complications and their postnatal management...
January 25, 2017: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/28583166/tardive-akathisia-related-to-the-anti-hypertensive-agent-sevikar-a-case-report
#14
Men-Ting Hsieh, Pao-Yen Lin, Chia-Jen Tsai, Chiung-Chih Chang, Yu Lee
BACKGROUND: Tardive akathisia (TA) is a subtype of tardive syndrome, and its etiology is still uncertain. Sevikar is an anti-hypertensive agent containing both amlodipine and olmesartan, and has never been reported to have an adverse reaction in patients with tardive syndrome. CASE PRESENTATION: A 57-year-old woman who took Sevikar for hypertension for 10 years developed TA one and a half years before receiving any psychiatric treatment. After switching from Sevikar to bisoprolol, she reported obvious improvement in her akathisia...
June 5, 2017: BMC Pharmacology & Toxicology
https://www.readbyqxmd.com/read/28581538/from-traumatic-events-and-dissociation-to-body-image-and-depression-symptoms-in-search-of-self-destruction-syndrome-in-adolescents-who-engage-in-nonsuicidal-self-injury
#15
Wioletta Radziwiłłowicz, Magdalena Lewandowska
OBJECTIVES: The aim of the study was to analyze relationships between the variables: severity of depression symptoms, feelings towards one's own body, dissociation, the number and type of traumatic life events experienced by adolescents who engage in deliberate self-injury and are psychiatrically hospitalized. METHODS: We examined 60 patients aged 13-17 (M = 15.48, SD = 1.19). More than a half (55%) were diagnosed with a mixed disturbance of emotions and conduct, 23...
April 30, 2017: Psychiatria Polska
https://www.readbyqxmd.com/read/28579975/the-eight-and-a-half-year-journey-of-undiagnosed-ad-gene-sequencing-and-funding-of-advanced-genetic-testing-has-led-to-hope-and-new-beginnings
#16
Illana Gozes, Marc C Patterson, Anke Van Dijck, R Frank Kooy, Joseph N Peeden, Jacob A Eichenberger, Angela Zawacki-Downing, Sandra Bedrosian-Sermone
BACKGROUND: Activity-dependent neuroprotective protein (ADNP) is one of the most prevalent de novo mutated genes in syndromic autism spectrum disorders, driving a general interest in the gene and the syndrome. AIM: The aim of this study was to provide a detailed developmental case study of ADNP p.Tyr719* mutation toward improvements in (1) diagnostic procedures, (2) phenotypic scope, and (3) interventions. METHODS: Longitudinal clinical and parental reports...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28576691/recurrent-elevated-liver-transaminases-and-acute-liver-failure-in-two-siblings-with-novel-bi-allelic-mutations-of-nbas
#17
Frederico S Regateiro, Serkan Belkaya, Nélson Neves, Sandra Ferreira, Paula Silvestre, Sónia Lemos, Margarida Venâncio, Jean-Laurent Casanova, Isabel Gonçalves, Emmanuelle Jouanguy, Luísa Diogo
BACKGROUND: Acute liver failure (ALF) in children can be life-threatening. Although many causes are known, ALF remains unexplained in about half of the cases. Recently, bi-allelic mutations in NBAS were reported to underlie recurrent episodes of elevated liver transaminases (ELT) and ALF in the context of diverse extrahepatic phenotypes. RESULTS: We here describe two sisters, born to non-consanguineous Portuguese parents, who had short stature and presented with recurrent episodes of severe ELT triggered by febrile respiratory viral infections from early childhood...
May 30, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28576427/-food-diet-and-dietetic-in-treatment-of-urinary-tract-dysfunctions-a-review
#18
N Turmel, C Hentzen, C Chesnel, A Charlannes, F Le Breton, G Amarenco
Overactive bladder symptoms (OAB) are frequent and can impact quality of life for these patients. Numerous and various treatments could be proposed in order to improve well-being and quality of life, but all these treatments have side effects and determine for many patients, important care constraints. We present here a review of food and diet in OAB. MATERIAL AND METHODS: Literature review from PubMed Medline database and Google scholar to August 2016, without time restriction. Two hundred and ninety-six articles were screened, in English and in French, and finally, 10 were retained...
May 30, 2017: Progrès en Urologie
https://www.readbyqxmd.com/read/28575760/benign-childhood-epilepsy-with-centrotemporal-spikes-bects-and-developmental-co-ordination-disorder
#19
Amanda Kirby, Natalie Williams, Loes Koelewijn, Lisa M Brindley, Suresh D Muthukumaraswamy, Johann Te Water Naudé, Marie Thomas, Frances Gibbon, Krish D Singh, Khalid Hamandi
BACKGROUND: Benign epilepsy with centro-temporal spikes (BECTS) is a common childhood epilepsy syndrome also known as Rolandic Epilepsy (RE). Neurocognitive phenotypes have been described with greater focus on attention, reading and language domains but there have been far fewer studies focusing on motor functioning. This study included measures of motor, language and cognition in order to investigate the range, degree and pattern of difficulties associated with BECTS in a case series of children, but with a particular emphasis on motor skills...
May 30, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28570160/acute-respiratory-distress-syndrome-and-diffuse-alveolar-damage-new-insights-on-a-complex-relationship
#20
Pablo Cardinal-Fernández, José A Lorente, Aída Ballén-Barragán, Gustavo Matute-Bello
Acute respiratory distress syndrome (ARDS) is a major clinical problem with high morbidity and mortality. Diffuse alveolar damage (DAD) is considered the histological hallmark for the acute phase of ARDS. DAD is characterized by an acute phase with edema, hyaline membranes, and inflammation, followed by an organizing phase with alveolar septal fibrosis and type II pneumocyte hyperplasia. Given the difficulties in obtaining a biopsy in patients with ARDS, the presence of DAD is not required to make the diagnosis...
June 2017: Annals of the American Thoracic Society
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