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Berger Disease

Paul R Harmatz, Eugen Mengel, Tarekegn Geberhiwot, Nicole Muschol, Christian J Hendriksz, Barbara K Burton, Elisabeth Jameson, Kenneth I Berger, Andrea Jester, Marsha Treadwell, Zlatko Sisic, Celeste Decker
Efficacy and safety of elosulfase alfa enzyme replacement therapy (ERT) were assessed in an open-label, phase 2, multi-national study in Morquio A patients aged ≥5 years unable to walk ≥30 meters in the 6-min walk test. Patients received elosulfase alfa 2.0 mg/kg/week intravenously for 48 weeks. Efficacy measures were functional dexterity, pinch/grip strength, mobility in a modified timed 25-foot walk, pain, quality of life, respiratory function, and urine keratan sulfate (KS). Safety/tolerability was also assessed...
October 24, 2016: American Journal of Medical Genetics. Part A
Elizabeth Fink, Katherine Fuller, Brian Agan, Edward A Berger, Andrew Saphire, Gerald V Quinnan, John H Elder
The purpose of this study was to assess humoral antibody responses as a function of disease progression in a well-defined HIV+ cohort. We quantified antibodies to HIV-1 gp120, Gag and CD4 receptor by ELISA in sera from a cohort of 97 HIV+ subjects at defined stages of disease progression. We also measured antibody-dependent cellular cytotoxicity (ADCC) as a function of the clinical status of the patients. We purified antibodies to CD4 and gp120 and assessed them for specificity, ability to block gp120 binding to target cells, ability to block virus infection, and ability to facilitate ADCC...
October 22, 2016: AIDS Research and Human Retroviruses
Uta Hanning, Andreas Roesler, Annette Peters, Klaus Berger, Bernhard T Baune
While MRI brain changes have been related to mortality during ageing, the role of inflammation in this relationship remains poorly understood. Hence, this study aimed to investigate the impact of MRI changes on all-cause mortality and the mediating role of cytokines. All-cause mortality was evaluated in 268 community dwelling elderly (age 65-83 years) in the MEMO study (Memory and Morbidity in Augsburg elderly). MRI markers of brain atrophy and cerebral small vessel disease (SVD), C-reactive protein (CRP) and a panel of cytokines in serum were assessed...
October 20, 2016: Age (2005-)
Gabriel Bsteh, Julia Feige, Rainer Ehling, Michael Auer, Harald Hegen, Franziska Di Pauli, Florian Deisenhammer, Markus Reindl, Thomas Berger
BACKGROUND: Stable disease course may prompt consideration of disease-modifying treatment (DMT) discontinuation in relapsing-remitting multiple sclerosis (RRMS). OBJECTIVE: To investigate the clinical outcome after DMT discontinuation and to identify predictive factors supporting decision-making. METHODS: We included 221 RRMS patients, who discontinued DMT after ⩾12 months and had documented follow-up ⩾2 years after discontinuation...
October 20, 2016: Multiple Sclerosis: Clinical and Laboratory Research
Michael E Ivan, Roberto Jose Diaz, Michael H Berger, Gregory W Basil, David A Osiason, Thomas Plate, Amanda Wallo, Ricardo J Komotar
BACKGROUND AND OBJECTIVE: Magnetic resonance-guided laser-induced thermotherapy (MR-LITT) is a minimally invasive technique that shows promise in neuro-oncology due to its superiority in delivering precise minimally invasive thermal energy with minimal collateral damage. In this analysis we investigate initial data on MR-LITT's effect on dural based lesions. METHODS: Five patients were identified with dural based lesions (4 meningiomas, 1 solitary fibrous tumor) with clear evidence of radiological progression...
October 17, 2016: World Neurosurgery
Katharina A Schindlbeck, Janek Becker, Felix Berger, Arne Mehl, Charlotte Rewitzer, Sarah Geffe, Peter M Koch, Jan C Preiß, Britta Siegmund, Jochen Maul, Frank Marzinzik
PURPOSE: Inflammatory bowel disease has been associated with neurological symptoms including restless legs syndrome. Here, we investigated the impact of restless legs syndrome in patients with inflammatory bowel disease on sleep, fatigue, mood, cognition, and quality of life. METHODS: Two groups of inflammatory bowel disease patients, with and without restless legs syndrome, were prospectively evaluated for sleep disorders, fatigue, daytime sleepiness, depression, anxiety, and health-related quality of life...
October 18, 2016: International Journal of Colorectal Disease
Clémentine Sarkozy, Sophie Kaltenbach, Pierre Faurie, Danielle Canioni, Françoise Berger, Alexandra Traverse-Glehen, Hervé Ghesquieres, Gilles Salles, Emmanuel Bachy, Marie-Alexandra Alyanakian, Olivier Hermine, Bénédicte Neven, Elizabeth Macintyre, Serge Romana, Thierry Jo Molina, Felipe Suarez, Vahid Asnafi, Julie Bruneau
Plasma-cell post-transplantation lymphoproliferative disorder (PC-PTLD) is a rare monomorphic PTLD entity divided into plasma cell myeloma (PCM) and plasmacytoma-like lesion (PLL) PTLD. To date, there are no exhaustive published cytogenetic data on PC-PTLD. We report array-based comparative genomic hybridization (aCGH) of 10 cases of PCM and PLL-PTLD. Patients had received kidney (n=6), heart (n=2), lung (n=1) or bone marrow (n=1) transplantation. There were six men and median age at time of PTLD was 56.5 years (3-74)...
October 17, 2016: Genes, Chromosomes & Cancer
S A Sarker, B Berger, Y Deng, S Kieser, F Foata, D Moine, P Descombes, S Sultana, S Huq, P K Bardhan, V Vuillet, F Praplan, H Brüssow
A T4-like coliphage cocktail was given with different oral doses to healthy Bangladeshi children in a placebo-controlled randomized phase I safety trial. Fecal phage detection was oral dose dependent suggesting passive gut transit of coliphages through the gut. No adverse effects of phage application were seen clinically and by clinical chemistry. Similar results were obtained for a commercial phage preparation (Coliproteus from Microgen/Russia). By 16S rRNA gene sequencing only a low degree of fecal microbiota conservation was seen in healthy children from Bangladesh who were sampled over a time interval of 7 days suggesting a substantial temporal fluctuation of the fecal microbiota composition...
October 17, 2016: Environmental Microbiology
Petya Berger, Michael Knödler, Konrad U Förstner, Michael Berger, Christian Bertling, Cynthia M Sharma, Jörg Vogel, Helge Karch, Ulrich Dobrindt, Alexander Mellmann
Escherichia coli O104:H4 (E. coli O104:H4), which caused a massive outbreak of acute gastroenteritis and hemolytic uremic syndrome in 2011, carries an aggregative adherence fimbriae I (AAF/I) encoding virulence plasmid, pAA. The importance of pAA in host-pathogen interaction and disease severity has been demonstrated, however, not much is known about its transcriptional organization and gene regulation. Here, we analyzed the pAA primary transcriptome using differential RNA sequencing, which allows for the high-throughput mapping of transcription start site (TSS) and non-coding RNA candidates...
October 17, 2016: Scientific Reports
U Gehrmann, U Berger, N Teich, T Bruns, A Stallmach, M Weber
Background: Clinical trials are designed to investigate innovative diagnostic and therapeutic strategies for patients. However, factors that influence patients with inflammatory bowel disease (IBD) and willingness to participate in a clinical trial are unknown. Methods: We developed a questionnaire and asked IBD patients about their willingness to hypothetically participate in a clinical trial and their current health-related quality of life by using the IBDQ. Results: Of 201 distributed questionnaires, 166 were returned and included in the analysis...
October 2016: Zeitschrift Für Gastroenterologie
Laura Penna Rocha, Samuel Cavalcante Xavier, Fernanda Rodrigues Helmo, Juliana Reis Machado, Fernando Silva Ramalho, Marlene Antônia Dos Reis, Rosana Rosa Miranda Corrêa
INTRODUCTION: Epithelial-mesenchymal transition (EMT) is a process in which epithelial cells may express mesenchymal cell markers with subsequent change in their functions, and it may be part of the etiopathogenesis of kidney disease. OBJECTIVE: The aim of this study was to evaluate the immunexpression of some EMT inducers and markers in frequent nephropathies in pediatric patients. METHODS: 59 patients aged 2-18 years old were selected and divided into 6 groups of frequent nephropathies in children and adolescents, as well as one control group...
September 22, 2016: Pathology, Research and Practice
Baruch Wolach, Ronit Gavrieli, Martin de Boer, Karin van Leeuwen, Sivan Berger-Achituv, Tal Stauber, Josef Ben Ari, Menachem Rottem, Yechiel Schlesinger, Galia Grisaru-Soen, Omar Abuzaitoun, Nufar Marcus, Ben Zion Garty, Arnon Broides, Jakov Levy, Polina Stepansky, Amos Etzioni, Raz Somech, Dirk Roos
Chronic granulomatous disease (CGD) is an innate immunodeficiency with a genetic defect of the nicotinamide adenosine dinucleotide phosphate, reduced, oxidase components. This leads to decreased reactive oxygen species (ROS) production, which renders patients susceptible to life-threatening infections. Over the course of 30 years, we diagnosed CGD in 84 patients from 61 families using functional, molecular and genetic studies. The incidence of CGD in Israel is 1.05 per 100,000 live-births in the Jewish population and 1...
October 4, 2016: American Journal of Hematology
Michele F Eisenga, Robin P F Dullaart, Stefan P Berger, John H Sloan, Aiko P J de Vries, Stephan J L Bakker, Carlo A J M Gaillard
BACKGROUND: Hepcidin is considered the master regulator of iron homeostasis. Novel hepcidin antagonists have recently been introduced as potential treatment for iron-restricted anemia. Meanwhile, serum hepcidin has been shown to be positively associated with cardiovascular disease and inversely with acute kidney injury. These properties may lead to contrasting effects, especially in renal transplant recipients (RTR) which are prone to cardiovascular diseases and graft failure. To date, the role of serum hepcidin in RTR is unknown...
October 3, 2016: European Journal of Clinical Investigation
Ludivine Chamard, Sabrina Ferreira, Alexa Pijoff, Manon Silvestre, Eric Berger, Eloi Magnin
Objectives. To describe cognitive assessment including social cognition in SPG4 patients. Methods. We reported a series of nine patients with SPG4 mutation with an extensive neuropsychological examination including social cognition assessment. Results. None of our patients presented with mental retardation or dementia. All presented with mild cognitive impairment with a high frequency of attention deficit (100%), executive disorders (89%), and social cognition impairment (78%). An asymptomatic patient for motor skills presented with the same cognitive profile...
2016: Behavioural Neurology
Willemijn M H Zijlstra, Johannes M Douwes, Mark-Jan Ploegstra, Usha Krishnan, Marcus T R Roofthooft, Hans L Hillege, D Dunbar Ivy, Erika B Rosenzweig, Rolf M F Berger
Congenital heart disease (CHD) is a frequent cause of pediatric pulmonary arterial hypertension (PAH), with diverse etiology and outcome. We aimed to describe phenotypic heterogeneity in pediatric PAH associated with CHD (PAH-CHD), assess the applicability of the Nice CHD classification, and explore whether this classification accurately reflects patient/disease characteristics and survival. All children with CHD from a contemporary cohort of consecutive pediatric PAH patients followed in three major referral centers (Denver, New York, the Netherlands) were characterized and classified on the basis of the latest proposed clinical classification for PAH-CHD (World Symposium on Pulmonary Hypertension, Nice, 2013)...
September 2016: Pulmonary Circulation
Marie von Lilienfeld-Toal, Annemarie Berger, Maximilian Christopeit, Marcus Hentrich, Claus Peter Heussel, Jana Kalkreuth, Michael Klein, Matthias Kochanek, Olaf Penack, Elke Hauf, Christina Rieger, Gerda Silling, Maria Vehreschild, Thomas Weber, Hans-Heinrich Wolf, Nicola Lehners, Enrico Schalk, Karin Mayer
BACKGROUND: Community acquired viruses (CRVs) may cause severe disease in cancer patients. Thus, efforts should be made to diagnose CRV rapidly and manage CRV infections accordingly. METHODS: A panel of 18 clinicians from the Infectious Diseases Working Party of the German Society for Haematology and Medical Oncology have convened to assess the available literature and provide recommendations on the management of CRV infections including influenza, respiratory syncytial virus, parainfluenza virus, human metapneumovirus and adenovirus...
November 2016: European Journal of Cancer
David Hupin, Frédéric Roche, Mathieu Oriol, Martin Garet, Vincent Pichot, Vincent Gremeaux, Jean-Claude Chatard, Emilie Achour, Mathieu Berger, Jean-Michel Gaspoz, Léonard Feasson, Jean-Claude Barthelemy, Pascal Edouard
OBJECTIVE: The proportion of healthy years lost due to disease rapidly increased with age. It is well established that regular physical activity is an efficient strategy for successful aging. However, less than 50% are able to achieve the 150min of moderate and vigorous physical activity (MVPA) per week. The prescription of physical activity for older adults needs to be clarified. MATERIAL/PATIENTS AND METHODS: A French cohort of 1011 subjects aged 65 and an international cohort of 122,417 subjects aged 60 (meta-analysis) were followed over a period of 12 and 10years...
September 2016: Annals of Physical and Rehabilitation Medicine
M Wahl, J Phillips, A Molinaro, Y Lin, A Perry, D A Haas-Kogan, J Costello, M Dayal, N Butowski, J Clarke, M Prados, M S Berger, S Nelson, S M Chang
No abstract text is available yet for this article.
October 1, 2016: International Journal of Radiation Oncology, Biology, Physics
Ryan P Berger, Michelle Dookwah, Richard Steet, Stephen Dalton
Glycosylation refers to the co- and post-translational modification of protein and lipids by monosaccharides or oligosaccharide chains. The surface of mammalian cells is decorated by a heterogeneous and highly complex array of protein and lipid linked glycan structures that vary significantly between different cell types, raising questions about their roles in development and disease pathogenesis. This review will begin by focusing on recent findings that define roles for cell surface protein and lipid glycosylation in pluripotent stem cells and their functional impact during normal development...
September 26, 2016: BioEssays: News and Reviews in Molecular, Cellular and Developmental Biology
Joseph R Berger, Christopher Power
No abstract text is available yet for this article.
September 24, 2016: Neurology
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