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https://www.readbyqxmd.com/read/28324240/neurocognitive-profiles-in-msud-school-age-patients
#1
Juliette Bouchereau, Julie Leduc-Leballeur, Samia Pichard, Apolline Imbard, Jean-François Benoist, Marie-Thérèse Abi Warde, Jean-Baptiste Arnoux, Valérie Barbier, Anaïs Brassier, Pierre Broué, Aline Cano, Brigitte Chabrol, Gilles Damon, Claire Gay, Isabelle Guillain, Florence Habarou, Delphine Lamireau, Chris Ottolenghi, Laetitia Paermentier, Frédérique Sabourdy, Guy Touati, Hélène Ogier de Baulny, Pascale de Lonlay, Manuel Schiff
Maple syrup urine disease (MSUD), an inborn error of amino acids catabolism is characterized by accumulation of branched chain amino acids (BCAAs) leucine, isoleucine, valine and their corresponding alpha-ketoacids. Impact on the cognitive development has been reported historically, with developmental delays of varying degree. Currently, earlier diagnosis and improved management allow a better neurodevelopment, without requirement of special education. However, specific impairments can be observed, and so far, results of detailed neurocognitive assessments are not available...
March 21, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28323905/elevated-plasma-levels-of-cardiac-troponin-i-predict-left-ventricular-systolic-dysfunction-in-patients-with-myotonic-dystrophy-type-1-a-multicentre-cohort-follow-up-study
#2
Mark J Hamilton, Yvonne Robb, Sarah Cumming, Helen Gregory, Alexis Duncan, Monika Rahman, Anne McKeown, Catherine McWilliam, John Dean, Alison Wilcox, Maria E Farrugia, Anneli Cooper, Josephine McGhie, Berit Adam, Richard Petty, Cheryl Longman, Iain Findlay, Alan Japp, Darren G Monckton, Martin A Denvir
OBJECTIVE: High sensitivity plasma cardiac troponin-I (cTnI) is emerging as a strong predictor of cardiac events in a variety of settings. We have explored its utility in patients with myotonic dystrophy type 1 (DM1). METHODS: 117 patients with DM1 were recruited from routine outpatient clinics across three health boards. A single measurement of cTnI was made using the ARCHITECT STAT Troponin I assay. Demographic, ECG, echocardiographic and other clinical data were obtained from electronic medical records...
2017: PloS One
https://www.readbyqxmd.com/read/28323838/bupropion-for-the-treatment-of-apathy-in-huntington-s-disease-a-multicenter-randomised-double-blind-placebo-controlled-prospective-crossover-trial
#3
Harald Gelderblom, Torsten Wüstenberg, Tim McLean, Lisanne Mütze, Wilhelm Fischer, Carsten Saft, Rainer Hoffmann, Sigurd Süssmuth, Peter Schlattmann, Erik van Duijn, Bernhard Landwehrmeyer, Josef Priller
OBJECTIVE: To evaluate the efficacy and safety of bupropion in the treatment of apathy in Huntington's disease (HD). METHODS: In this phase 2b multicentre, double-blind, placebo-controlled crossover trial, individuals with HD and clinical signs of apathy according to the Structured Clinical Interview for Apathy-Dementia (SCIA-D), but not depression (n = 40) were randomized to receive either bupropion 150/300mg or placebo daily for 10 weeks. The primary outcome parameter was a significant change of the Apathy Evaluation Scale (AES) score after ten weeks of treatment as judged by an informant (AES-I) living in close proximity with the study participant...
2017: PloS One
https://www.readbyqxmd.com/read/28320139/10-year-outcomes-after-rituximab-for-myasthenia-gravis-efficacy-safety-costs-of-inhospital-care-and-impact-on-childbearing-potential
#4
Karl Stieglbauer, Robert Pichler, Raffi Topakian
Rituximab (RTX) has emerged as an attractive off-label treatment option for patients with myasthenia gravis (MG) refractory to other immune therapies. However, data on long-term outcome after RTX for MG are still scarce. Here we present the 10-year outcomes [median (range) 10.1 (6.7-11.2) years] with respect to efficacy, safety, costs of inhospital care, and impact on childbearing potential in all four MG patients treated by one of the authors with RTX. In all patients, RTX led to sustained clinical improvement and eventual tapering of other immune therapies...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28319848/treatment-of-premenstrual-dysphoric-disorder-with-the-gabaa-receptor-modulating-steroid-antagonist-sepranolone-uc1010-a-randomized-controlled-trial
#5
Marie Bixo, Karin Ekberg, Inger Sundström Poromaa, Angelica Lindén Hirschberg, Aino Fianu Jonasson, Lotta Andréen, Erika Timby, Marianne Wulff, Agneta Ehrenborg, Torbjörn Bäckström
CONTEXT: Allopregnanolone is a metabolite from progesterone and a positive modulator of the GABAA receptor. This endogenous steroid may induce negative mood in sensitive women when present in serum levels comparable to the premenstrual phase. Its endogenous isomer, isoallopregnanolone, has been shown to antagonize allopregnanolone effects in experimental animal and human models. OBJECTIVE: The objective was to test whether inhibition of allopregnanolone by treatment with the GABAA modulating steroid antagonist (GAMSA) Sepranolone (UC1010) during the premenstrual phase could reduce symptoms of the premenstrual dysphoric disorder (PMDD)...
March 1, 2017: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/28319847/a-european-multicentre-study-on-the-comparison-of-hcv-viral-loads-between-veris-hcv-assay-and-cobas-%C3%A2-taqman-%C3%A2-hcv-test-and-realtime-hcv-assay
#6
Patrick Braun, Monica Drago, Diana Fanti, Hervé Fleury, Jörg Hofmann, Jacques Izopet, Sebastian Kühn, Alessandra Lombardi, Valeria Micheli, Karine Sauné, Pascale Trimoulet, Duncan Whittaker, Alain Artus, Daniel Rhodes
BACKGROUND: Beckman Coulter has developed the VERIS HCV Assay for use on the new fully automated DxN VERIS Molecular Diagnostic System(¥) for HCV viral load monitoring. OBJECTIVES: Evaluate the clinical performance of the new quantitative VERIS HCV Assay. STUDY DESIGN: Comparison was performed on 279 plasma specimens from HCV infected patients tested with the VERIS HCV Assay and COBAS(®) Ampliprep/COBAS(®) Taqman(®) HCV Test and 369 specimens tested with the VERIS HCV Assay and RealTime HCV Assay...
March 9, 2017: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
https://www.readbyqxmd.com/read/28318998/commentary-on-primary-stenting-of-the-superficial-femoral-artery-in-intermittent-claudication-improves-health-related-quality-of-life-ankle-brachial-index-and-walking-distance-12-month-results-of-a-controlled-randomised-multicentre-trial
#7
https://www.readbyqxmd.com/read/28318326/optimal-use-of-polyethylene-glycol-for-preparation-of-small-bowel-video-capsule-endoscopy-a-network-meta-analysis
#8
Shan Wu, Yun-Jie Gao, Zhi-Zheng Ge
OBJECTIVE: Standardized strategy of bowel preparation before video capsule endoscopy (VCE) remains controversial. We aimed to assess the ideal dose of PEG based on small bowel visualization quality (SBVQ), diagnostic yield (DY) and complete rate (CR) of VCE using a network meta-analysis (NMA) of randomized controlled trials (RCTs). METHODS: This NMA included RCTs comparing any of the following bowel preparation interventions for VCE: fasting overnight ('Fast'), 1 liter PEG ('PEG 1L'), 2-liter PEG ('PEG 2L'), or 4-liter PEG ('PEG 4L')...
March 20, 2017: Current Medical Research and Opinion
https://www.readbyqxmd.com/read/28317578/honing-the-classification-of-high-risk-endometrial-cancer-with-inclusion-of-lymphovascular-space-invasion
#9
Sofiane Bendifallah, Morgane Perrin, Lobna Ouldamer, Vincent Lavoué, Geoffroy Canlorbe, Emilie Raimond, Delphine Hudry, Charles Coutant, Olivier Graesslin, Cyril Touboul, Pierre Collinet, Emile Daraï, Marcos Ballester
OBJECTIVES: The purpose of this study was to analyse the clinical impact of LVSI status in a large French multicentre cohort of women with high-risk ECs according to the ESMO classification. METHODS: Data of 258 women with high-risk EC who received primary surgical treatment between January 2001 and December 2012 were abstracted from prospective multicentre database. The end points were the recurrence and the lymph node metastasis (LNM) rates. Recurrence free survival (RFS) and overall survival (OS) were analyzed...
March 2017: Surgical Oncology
https://www.readbyqxmd.com/read/28317330/long-term-risk-of-venous-thromboembolism-recurrence-after-isolated-superficial-vein-thrombosis
#10
Jean-Philippe Galanaud, Marie-Antoinette Sevestre, Gilles Pernod, Susan R Kahn, Céline Genty, Hugo Terrisse, Dominique Brisot, Jean-Luc Gillet, Isabelle Quéré, Jean-Luc Bosson
BACKGROUND: Isolated superficial vein thrombosis (iSVT) (without concomitant deep vein thrombosis (DVT) or pulmonary embolism (PE)) is a frequent event but available data on long-term outcomes are scarce and retrospective. Therefore, we aimed to determine prospectively the risk and type of venous thromboembolic (VTE) recurrence after iSVT and compare it with that of proximal DVT. METHODS: Using data from the prospective, multicentre, observational, OPTIMEV study, we assessed at three years and after anticoagulants were stopped, the incidence and the type of VTE recurrence (iSVT/DVT/PE) of patients with a first objectively confirmed iSVT without cancer (n=285) and compared this to patients with a first proximal DVT without cancer (n=262)...
March 20, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28317289/stroke-recurrence-in-patients-with-atrial-fibrillation-concomitant-carotid-artery-stenosis-doubles-the-risk
#11
H Lehtola, K E J Airaksinen, P Hartikainen, J E K Hartikainen, A Palomäki, I Nuotio, A Ylitalo, T Kiviniemi, P Mustonen
BACKGROUND AND PURPOSE: Atrial fibrillation (AF) and significant carotid artery stenosis (CAS) often coexist in patients with acute stroke but whether CAS affects the stroke recurrence rate in anticoagulated AF patients is largely unknown. The effect of concomitant CAS on both short- and long-term prognosis after stroke in patients with AF was evaluated. METHODS: The multicentre, retrospective FibStroke registry included AF patients with an ischaemic stroke or transient ischaemic attack (TIA) during 2003-2012...
March 20, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28317131/association-of-shorter-height-with-increased-risk-of-ischaemic-placental-disease
#12
Kohei Ogawa, Naho Morisaki, Shigeru Saito, Shoji Sato, Takeo Fujiwara, Haruhiko Sago
BACKGROUND: Although adult height is inversely related with the risk of chronic disease, the association between maternal height and ischaemic placental disease remains unclear. METHODS: We used the national, multicentre Japan Society of Obstetrics and Gynecology perinatal database to assess the risk of preeclampsia, placental abruption, and small for gestational age (SGA) births (birthweight < 10th percentile), which together constitute the syndrome 'ischaemic placental disease', in relation to self-reported height in 218 412 women with no underlying diseases before pregnancy, who delivered singletons in 2005-11...
March 20, 2017: Paediatric and Perinatal Epidemiology
https://www.readbyqxmd.com/read/28317094/long-term-outcomes-and-cost-effectiveness-of-high-dose-dexamethasone-for-cardiac-surgery-a-randomised-trial
#13
J M Dieleman, G A de Wit, A P Nierich, P M Rosseel, J M van der Maaten, J Hofland, J C Diephuis, F de Lange, C Boer, R E Neslo, K G Moons, L A van Herwerden, J G Tijssen, C J Kalkman, D van Dijk
Prophylactic intra-operative administration of dexamethasone may improve short-term clinical outcomes in cardiac surgical patients. The purpose of this study was to evaluate long-term clinical outcomes and cost effectiveness of dexamethasone versus placebo. Patients included in the multicentre, randomised, double-blind, placebo-controlled DExamethasone for Cardiac Surgery (DECS) trial were followed up for 12 months after their cardiac surgical procedure. In the DECS trial, patients received a single intra-operative dose of dexamethasone 1 mg...
March 20, 2017: Anaesthesia
https://www.readbyqxmd.com/read/28315845/icarus-study-prevalence-and-clinical-features-of-impulse-control-disorders-in-parkinson-s-disease
#14
Angelo Antonini, Paolo Barone, Ubaldo Bonuccelli, Karin Annoni, Mahnaz Asgharnejad, Paolo Stanzione
BACKGROUND: Impulse control disorders/other compulsive behaviours ('ICD behaviours') occur in Parkinson's disease (PD), but prospective studies are scarce, and prevalence and clinical characteristics of patients are insufficiently defined. OBJECTIVES: To assess the presence of ICD behaviours over a 2-year period, and evaluate patients' clinical characteristics. METHODS: A prospective, non-interventional, multicentre study (ICARUS (Impulse Control disorders And the association of neuRopsychiatric symptoms, cognition and qUality of life in ParkinSon disease); SP0990) in treated Italian PD outpatients...
April 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28315827/contemporary-management-of-low-grade-glioma-a-paradigm-shift-in-neuro-oncology
#15
REVIEW
Caroline Hayhurst
Supratentorial diffuse intrinsic low-grade gliomas represent a distinct but heterogenous group of tumours, with the propensity to grow and to differentiate into malignant tumours. They have been historically viewed in the 'benign' spectrum of intrinsic brain tumours, so a watch-and-wait policy was often adopted. With recent advances in our understanding of the natural history of these tumours, combined with advances in surgical technique, an aggressive approach is now recommended. Increasing quality evidence of the impact of tumour resection and multicentre trials of adjuvant radiotherapy and chemotherapy have led to a new algorithm for low-grade glioma management...
March 18, 2017: Practical Neurology
https://www.readbyqxmd.com/read/28315721/current-outcomes-and-predictors-of-treatment-failure-in-patients-with-surgical-site-infection-after-elective-colorectal-surgery-a-multicentre-prospective-cohort-study
#16
Aina Gomila, Josep Ma Badia, Jordi Carratalà, Xavier Serra-Aracil, Evelyn Shaw, Vicens Diaz-Brito, Antoni Castro, Elena Espejo, Carmen Nicolás, Marta Piriz, Montserrat Brugués, Josefina Obradors, Ana Lérida, Jordi Cuquet, Enric Limón, Francesc Gudiol, Miquel Pujol
OBJECTIVE: To determine current outcomes and predictors of treatment failure among patients with surgical site infection (SSI) after colorectal surgery. METHODS: A multicentre observational prospective cohort study of adults undergoing elective colorectal surgery in 10 Spanish hospitals (2011-2014). Treatment failure was defined as persistence of signs/symptoms of SSI or death at 30 days post-surgery. RESULTS: Of 3,701 patients, 669 (18.1%) developed SSI; 336 (9...
March 15, 2017: Journal of Infection
https://www.readbyqxmd.com/read/28314691/prevention-of-everolimus-related-stomatitis-in-women-with-hormone-receptor-positive-her2-negative-metastatic-breast-cancer-using-dexamethasone-mouthwash-swish-a-single-arm-phase-2-trial
#17
Hope S Rugo, Lasika Seneviratne, J Thaddeus Beck, John A Glaspy, Julio A Peguero, Timothy J Pluard, Navneet Dhillon, Leon Christopher Hwang, Chaitali Nangia, Ingrid A Mayer, Timothy F Meiller, Mark S Chambers, Robert W Sweetman, J Randy Sabo, Jennifer K Litton
BACKGROUND: Stomatitis is a class effect associated with the inhibition of mTOR and is associated with everolimus therapy for breast cancer. Topical steroids might reduce stomatitis incidence and severity, and the need for dose reductions and interruptions of everolimus. Anecdotal use of topical steroid oral prophylaxis has been reported in patients with breast cancer. We aimed to assess dexamethasone-based mouthwash for prevention of stomatitis in patients with breast cancer. METHODS: This US-based, multicentre, single-arm, phase 2 prevention study enrolled women aged 18 years and older with postmenopausal status who had histologically or cytologically confirmed metastatic hormone receptor-positive, HER2-negative breast cancer...
March 14, 2017: Lancet Oncology
https://www.readbyqxmd.com/read/28314689/dna-methylation-based-classification-and-grading-system-for-meningioma-a-multicentre-retrospective-analysis
#18
Felix Sahm, Daniel Schrimpf, Damian Stichel, David T W Jones, Thomas Hielscher, Sebastian Schefzyk, Konstantin Okonechnikov, Christian Koelsche, David E Reuss, David Capper, Dominik Sturm, Hans-Georg Wirsching, Anna Sophie Berghoff, Peter Baumgarten, Annekathrin Kratz, Kristin Huang, Annika K Wefers, Volker Hovestadt, Martin Sill, Hayley P Ellis, Kathreena M Kurian, Ali Fuat Okuducu, Christine Jungk, Katharina Drueschler, Matthias Schick, Melanie Bewerunge-Hudler, Christian Mawrin, Marcel Seiz-Rosenhagen, Ralf Ketter, Matthias Simon, Manfred Westphal, Katrin Lamszus, Albert Becker, Arend Koch, Jens Schittenhelm, Elisabeth J Rushing, V Peter Collins, Stefanie Brehmer, Lukas Chavez, Michael Platten, Daniel Hänggi, Andreas Unterberg, Werner Paulus, Wolfgang Wick, Stefan M Pfister, Michel Mittelbronn, Matthias Preusser, Christel Herold-Mende, Michael Weller, Andreas von Deimling
BACKGROUND: The WHO classification of brain tumours describes 15 subtypes of meningioma. Nine of these subtypes are allotted to WHO grade I, and three each to grade II and grade III. Grading is based solely on histology, with an absence of molecular markers. Although the existing classification and grading approach is of prognostic value, it harbours shortcomings such as ill-defined parameters for subtypes and grading criteria prone to arbitrary judgment. In this study, we aimed for a comprehensive characterisation of the entire molecular genetic landscape of meningioma to identify biologically and clinically relevant subgroups...
March 14, 2017: Lancet Oncology
https://www.readbyqxmd.com/read/28314688/nivolumab-treatment-for-oesophageal-squamous-cell-carcinoma-an-open-label-multicentre-phase-2-trial
#19
Toshihiro Kudo, Yasuo Hamamoto, Ken Kato, Takashi Ura, Takashi Kojima, Takahiro Tsushima, Shuichi Hironaka, Hiroki Hara, Taroh Satoh, Satoru Iwasa, Kei Muro, Hirofumi Yasui, Keiko Minashi, Kensei Yamaguchi, Atsushi Ohtsu, Yuichiro Doki, Yuko Kitagawa
BACKGROUND: Nivolumab is a human monoclonal IgG4 antibody that inhibits programmed cell death protein 1 (PD-1) expressed on activated T cells. We investigated the safety and activity of nivolumab in patients with treatment-refractory oesophageal cancer. METHODS: We did an open-label, single-arm, multicentre phase 2 study. Eligible patients had advanced squamous-cell carcinoma, adenosquamous-cell carcinoma, or adenocarcinoma of the oesophagus refractory or intolerant to fluoropyrimidine-based, platinum-based, and taxane-based chemotherapy...
March 14, 2017: Lancet Oncology
https://www.readbyqxmd.com/read/28314597/co-enrolment-of-participants-into-multiple-cancer-trials-benefits-and-challenges
#20
F H Cafferty, C Coyle, S Rowley, L Berkman, M MacKensie, R E Langley
Opportunities to enter patients into more than one clinical trial are not routinely considered in cancer research and experiences with co-enrolment are rarely reported. Potential benefits of allowing appropriate co-enrolment have been identified in other settings but there is a lack of evidence base or guidance to inform these decisions in oncology. Here, we discuss the benefits and challenges associated with co-enrolment based on experiences in the Add-Aspirin trial - a large, multicentre trial recruiting across a number of tumour types, where opportunities to co-enrol patients have been proactively explored and managed...
March 14, 2017: Clinical Oncology: a Journal of the Royal College of Radiologists
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