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Berger Disease

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https://www.readbyqxmd.com/read/28104788/myo18b-is-essential-for-sarcomere-assembly-in-fast-skeletal-muscle
#1
Joachim Berger, Silke Berger, Mei Li, Peter D Currie
Congenital myopathies are muscle degenerative disorders with a broad clinical spectrum. A number of myopathies have been associated with molecular defects within sarcomeres, the force-generating component of the muscle cell. Whereas the highly regular organization of the myofibril has been studied in detail, in vivo assembly of sarcomeres remains a poorly understood process. Therefore, a more detailed knowledge of sarcomere assembly is crucial to better understand the pathogenic mechanisms within myopathies...
January 18, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28103300/expression-profiling-of-ribosome-biogenesis-factors-reveals-nucleolin-as-a-novel-potential-marker-to-predict-outcome-in-aml-patients
#2
Virginie Marcel, Frédéric Catez, Caroline M Berger, Emeline Perrial, Adriana Plesa, Xavier Thomas, Eve Mattei, Sandrine Hayette, Pierre Saintigny, Philippe Bouvet, Jean-Jacques Diaz, Charles Dumontet
Acute myeloid leukemia (AML) is a heterogeneous disease. Prognosis is mainly influenced by patient age at diagnosis and cytogenetic alterations, two of the main factors currently used in AML patient risk stratification. However, additional criteria are required to improve the current risk classification and better adapt patient care. In neoplastic cells, ribosome biogenesis is increased to sustain the high proliferation rate and ribosome composition is altered to modulate specific gene expression driving tumorigenesis...
2017: PloS One
https://www.readbyqxmd.com/read/28099314/fundus-autofluorescence-lifetimes-and-central-serous-chorioretinopathy
#3
Chantal Dysli, Lieselotte Berger, Sebastian Wolf, Martin S Zinkernagel
PURPOSE: To quantify retinal fluorescence lifetimes in patients with central serous chorioretinopathy (CSC) and to identify disease specific lifetime characteristics over the course of disease. METHODS: Forty-seven participants were included in this study. Patients with central serous chorioretinopathy were imaged with fundus photography, fundus autofluorescence, optical coherence tomography, and fluorescence lifetime imaging ophthalmoscopy (FLIO) and compared with age-matched controls...
January 17, 2017: Retina
https://www.readbyqxmd.com/read/28094305/association-of-the-intestinal-microbiome-with-the-development-of-neovascular-age-related-macular-degeneration
#4
Martin S Zinkernagel, Denise C Zysset-Burri, Irene Keller, Lieselotte E Berger, Alexander B Leichtle, Carlo R Largiadèr, Georg M Fiedler, Sebastian Wolf
Age-related macular degeneration (AMD) is the most frequent cause of blindness in the elderly. There is evidence that nutrition, inflammation and genetic risk factors play an important role in the development of AMD. Recent studies suggest that the composition of the intestinal microbiome is associated with metabolic diseases through modulation of inflammation and host metabolism. To investigate whether compositional and functional alterations of the intestinal microbiome are associated with AMD, we sequenced the gut metagenomes of patients with AMD and controls...
January 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28089872/identification-of-airway-mucosal-type-2-inflammation-by-clinical-biomarkers-in-asthma
#5
Philip E Silkoff, Michel Laviolette, Dave Singh, J Mark FitzGerald, Steven Kelsen, Vibeke Backer, Celeste M Porsbjerg, Pierre-Olivier Girodet, Patrick Berger, Joel N Kline, Geoffrey Chupp, Vedrana S Susulic, Elliot S Barnathan, Frédéric Baribaud, Matthew J Loza
BACKGROUND AND OBJECTIVE: The Airways Disease Endotyping for Personalized Therapeutics (ADEPT) study profiled mild, moderate and severe asthma, and non-atopic healthy controls. We explored this dataset to define Type-2 inflammation based on airway-mucosal IL-13-driven gene expression and how this related to clinically-accessible biomarkers. METHODS: IL-13-driven gene expression was evaluated in several human cell lines. We then defined Type-2 status in 25 healthy subjects, 28 mild, 29 moderate, and 26 severe asthmatics, based on airway-mucosal expression of 1) CC-motif chemokine ligand (CCL)-26, (the most differentially expressed gene), 2) periostin, or 3) a multi-gene IL-13 in-vitro signature (IVS)...
January 12, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28077640/viral-rna-at-two-stages-of-reovirus-infection-is-required-for-the-induction-of-necroptosis
#6
Angela K Berger, Bradley E Hiller, Deepti Thete, Anthony J Snyder, Encarnacion Perez, Jason W Upton, Pranav Danthi
: Necroptosis, a regulated form of necrotic cell death requires the activation of the RIP3 kinase. Here, we identify that infection of host cells with reovirus can result in necroptosis. We find that necroptosis requires sensing of the genomic RNA within incoming virus particles via cytoplasmic RNA sensors to produce type I IFN. While these events that occur prior to de novo synthesis of viral RNA are required for induction of necroptosis, they are not sufficient. Induction of necroptosis also requires late stages of reovirus infection...
January 11, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28074886/post-mortem-whole-exome-analysis-in-a-large-sudden-infant-death-syndrome-cohort-with-a-focus-on-cardiovascular-and-metabolic-genetic-diseases
#7
Jacqueline Neubauer, Maria Rita Lecca, Giancarlo Russo, Christine Bartsch, Argelia Medeiros-Domingo, Wolfgang Berger, Cordula Haas
Sudden infant death syndrome (SIDS) is described as the sudden and unexplained death of an apparently healthy infant younger than one year of age. Genetic studies indicate that up to 35% of SIDS cases might be explained by familial or genetic diseases such as cardiomyopathies, ion channelopathies or metabolic disorders that remained undetected during conventional forensic autopsy procedures. Post-mortem genetic testing by using massive parallel sequencing (MPS) approaches represents an efficient and rapid tool to further investigate unexplained death cases and might help to elucidate pathogenic genetic variants and mechanisms in cases without a conclusive cause of death...
January 11, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28073783/podoplanin-expression-in-primary-brain-tumors-induces-platelet-aggregation-and-increases-risk-of-venous-thromboembolism
#8
Julia Riedl, Matthias Preusser, Pegah Mir Seyed Nazari, Florian Posch, Simon Panzer, Christine Marosi, Peter Birner, Johannes Thaler, Christine Brostjan, Daniela Lötsch, Walter Berger, Johannes A Hainfellner, Ingrid Pabinger, Cihan Ay
Venous thromboembolism (VTE) is common in patients with brain tumors, and underlying mechanisms are unclear. We hypothesized that podoplanin, a sialomucin-like glycoprotein, increases the risk of VTE in primary brain tumors via its ability to induce platelet aggregation. Immunohistochemical staining against podoplanin and intratumoral platelet aggregates was performed in brain tumor specimens of 213 patients (mostly high-grade gliomas [89%]) included in the Vienna Cancer and Thrombosis Study (CATS), a prospective observational cohort study of patients with newly diagnosed cancer or progressive disease aimed at identifying patients at risk of VTE...
January 10, 2017: Blood
https://www.readbyqxmd.com/read/28064210/characteristics-of-autoantibodies-targeting-14-3-3-proteins-and-their-association-with-clinical-features-in-newly-diagnosed-giant-cell-arteritis
#9
Anne Kistner, Marc B Bigler, Kathrin Glatz, Simon B Egli, Fabian S Baldin, Florian A Marquardsen, Matthias Mehling, Katharina M Rentsch, Daniel Staub, Markus Aschwanden, Mike Recher, Thomas Daikeler, Christoph T Berger
OBJECTIVES: Autoantibodies are useful biomarkers for diagnosing and monitoring treatment in some autoimmune diseases. Antibodies against isoforms of 14-3-3 protein have been proposed as biomarkers for the presence of aortic aneurysm in large-vessel vasculitis (LVV). Here, we aimed to evaluate the diagnostic role and potential immunopathological involvement of anti-14-3-3 antibodies in newly diagnosed LVV patients. METHODS: Antibodies against three isoforms of 14-3-3 (γ, ε and ζ) were measured in 90 subjects: 48 GCA and 3 Takayasu's arteritis (TA) patients, and 39 controls (non-inflammatory and inflammatory diseases), using a multiplexed bead-based immunoassay and immunoprecipitation studies...
January 7, 2017: Rheumatology
https://www.readbyqxmd.com/read/28062142/aldosterone-pathway-blockade-to-prevent-atrial-fibrillation-a-systematic-review-and-meta-analysis
#10
J Neefs, N W E van den Berg, J Limpens, W R Berger, S M Boekholdt, P Sanders, J R de Groot
BACKGROUND: Despite advances in therapeutic interventions AF remains a progressive and symptomatic disease. Therefore, novel therapeutic interventions targeting the underlying arrhythmogenic substrate for AF is needed. Atrial fibrosis is an important component of the arrhythmogenic substrate of AF and may be initiated by aldosterone binding to the mineralocorticoid receptor. We hypothesized that aldosterone pathway blockade with mineralocorticoid receptor antagonists (MRA) reduces atrial fibrosis, and thus AF...
December 23, 2016: International Journal of Cardiology
https://www.readbyqxmd.com/read/28061904/classifying-high-risk-versus-very-high-risk-prostate-cancer-is-it-relevant-to-outcomes-of-conformal-radiotherapy-and-androgen-deprivation
#11
Akram Saad, Jeffrey Goldstein, Yaacov R Lawrence, Benjamin Spieler, Raya Leibowitz-Amit, Raanan Berger, Tima Davidson, Damien Urban, Lev Tsang, Dror Alezra, Ilana Weiss, Zvi Symon
OBJECTIVE: To evaluate outcomes in prostate cancer patients classified as high-risk (HR) or very high-risk (VHR) who were treated with conformal radiation therapy (CRT) and androgen deprivation therapy (ADT). METHODS: Between 11/2001 and 3/2012, 203 patients with HR disease received CRT to the prostate (78-82 Gy) and pelvic lymph nodes (46-50 Gy) with ADT (6 m-2 years). Median follow-up was 50 months (12 m-142 m). Biochemical failure was defined according to Phoenix definition...
January 6, 2017: Radiation Oncology
https://www.readbyqxmd.com/read/28061021/comprehensive-assessment-of-tumour-budding-on-cytokeratin-stains-in-colorectal-cancer
#12
Gregor Rieger, Viktor H Koelzer, Heather E Dawson, Martin D Berger, Marion Hädrich, Daniel Inderbitzin, Alessandro Lugli, Inti Zlobec
BACKGROUND: Tumour budding in colorectal cancer (CRC) is a recognized prognostic parameter. Aim of this study is to address the use of cytokeratin immunostaining for visualization and scoring of tumour buds. METHODS: Ten hotspots (0.238 mm(2) ) of peritumoural (PTB) and intratumoural (ITB) budding were evaluated in surgical resections from 215 patients. The budding counts in the 10 densest regions anywhere in the tumour were combined into an overall tumour budding (OTB) score...
January 6, 2017: Histopathology
https://www.readbyqxmd.com/read/28039079/post-transplant-cyclophosphamide-and-tacrolimus-mycophenolate-mofetil-combination-prevents-graft-versus-host-disease-in-allogeneic-peripheral-blood-hematopoietic-cell-transplantation-from-hla-identical-donors
#13
Fabrizio Carnevale-Schianca, Daniela Caravelli, Susanna Gallo, Valentina Coha, Lorenzo D'Ambrosio, Elena Vassallo, Marco Fizzotti, Francesca Nesi, Luisa Gioeni, Massimo Berger, Alessandra Polo, Loretta Gammaitoni, Paolo Becco, Lidia Giraudo, Monica Mangioni, Dario Sangiolo, Giovanni Grignani, Delia Rota-Scalabrini, Antonino Sottile, Franca Fagioli, Massimo Aglietta
Allogeneic hematopoietic cell transplant (HCT) remains the only curative therapy for many hematologic malignancies but it is limited by high nonrelapse mortality (NRM), primarily from unpredictable control of graft-versus-host disease (GVHD). Recently, post-transplant cyclophosphamide demonstrated improved GVHD control in allogeneic bone marrow HCT. Here we explore cyclophosphamide in allogeneic peripheral blood stem cell transplantation (alloPBSCT). Patients with high-risk hematologic malignancies received alloPBSCT from HLA-matched unrelated/related donors...
December 27, 2016: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/28034821/prevalence-of-autoantibodies-in-the-course-of-gaucher-disease-type-1-a-multicenter-study-comparing-gaucher-disease-patients-to-healthy-subjects
#14
Christine Serratrice, Nesma Bensalah, Guillaume Penaranda, Nathalie Bardin, Nadia Belmatoug, Agathe Masseau, Christian Rose, Olivier Lidove, Fabrice Camou, François Maillot, Vanessa Leguy, Nadine Magy-Bertrand, Isabelle Marie, Patrick Cherin, Monia Bengherbia, Sebastian Carballo, José Boucraut, Jacques Serratrice, Marc Berger, Denis Verrot
OBJECTIVES: Type 1 Gaucher disease may be related to the presence of autoantibodies. Their clinical significance is questioned. Primary Endpoint was to compare the prevalence of autoantibodies in type 1 Gaucher disease patients with healthy subjects, seeking correlations with autoimmune characteristics. Secondary endpoints were to determine whether patients with autoantibodies reported autoimmunity-related symptoms and if genotype, splenectomy or treatment influenced autoantibodies presence...
December 26, 2016: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/28027945/next-generation-assessment-of-erbb2-human%C3%A2-epidermal-growth-factor-receptor-2-amplification-status-clinical-validation-in-the-context-of-a-hybrid-capture-based-comprehensive-solid-tumor-genomic-profiling-assay
#15
Dara S Ross, Ahmet Zehir, Donavan T Cheng, Ryma Benayed, Khedoudja Nafa, Jaclyn F Hechtman, Yelena Y Janjigian, Britta Weigelt, Pedram Razavi, David M Hyman, José Baselga, Michael F Berger, Marc Ladanyi, Maria E Arcila
Establishing ERBB2 [human epidermal growth factor receptor 2 (HER2)] amplification status in breast and gastric carcinomas is essential to patients' treatment plans. Immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH) constitute the current standard for assessment. With further advancements in genomic medicine, new clinically relevant biomarkers are rapidly emerging and options for targeted therapy are increasing in patients with advanced disease, driving the need for comprehensive molecular profiling...
December 24, 2016: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28008464/long-term-effects-of-the-collagenase-of-the-bacterium-clostridium-histolyticum-for-the-treatment-of-capsular-fibrosis-after-silicone-implants
#16
Sebastian Fischer, Yannick Diehm, Thomas Henzler, Martin R Berger, Jonas Kolbenschlag, Anne Latz, Ericka M Bueno, Christoph Hirche, Ulrich Kneser, Bohdan Pomahac
BACKGROUND: Capsular contracture remains the most frequent long-term complication after augmentation mammoplasty with silicone implants. Thereby, the main part of the fibrotic capsule is collagen. The collagenase of the bacterium Clostridium histolyticum is approved for the treatment of fibrotic diseases and has been demonstrated to be effective for capsular fibrosis treatment in the short term. However, long-term effectiveness is currently unknown but mandatory for clinical utilization...
December 23, 2016: Aesthetic Plastic Surgery
https://www.readbyqxmd.com/read/28006088/case-of-parotid-mucoepidermoid-carcinoma-expanding-the-spectrum-of-von-hippel-lindau-related-neoplasms
#17
Michael H Berger, Darcy A Kerr, Artur E Rangel Filho, Zoukaa B Sargi
BACKGROUND: von Hippel-Lindau (VHL)-related tumors occurring outside the spectrum of VHL-defining tumors are rare, and mucoepidermoid carcinoma (MEC) in the setting of VHL disease has not been described. METHODS AND RESULTS: We describe a patient with confirmed VHL mutation who presented with a parotid mass and a history of 2 central nervous system (CNS) hemangioblastomas and 1 pheochromocytoma. Fine-needle aspiration (FNA) of the mass suggested a benign Warthin tumor...
December 22, 2016: Head & Neck
https://www.readbyqxmd.com/read/28001183/quality-of-life-in-hemodialysis-patients-and-the-relationship-with-mortality-hospitalizations-and-poor-treatment-adherence
#18
Araiê Prado Berger Oliveira, Debora Berger Schmidt, Thaís Malucelli Amatneeks, Jéssica Caroline Dos Santos, Luiza Helena Raittz Cavallet, Renate Brigitte Michel
INTRODUCTION: Chronic kidney disease (CKD) causes sudden changes in the daily lives of patients, creates limitations to perform activities of daily life and creates a great impact on emotions and quality of life (QOL) of patients. OBJECTIVE: To understand the relationship between QOL of patients on dialysis and mortality rates, hospitalization and absences. METHODS: A prospective descriptive study with 286 patients on hemodialysis, by applying demographic questionnaire, KDQOL SF-36 and electronic medical record analysis Dialsist...
December 2016: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
https://www.readbyqxmd.com/read/27995825/treatment-initiation-in-paediatric-pulmonary-hypertension-insights-from-a-multinational-registry
#19
Tilman Humpl, Rolf M F Berger, Eric D Austin, Margrit S Fasnacht Boillat, Damien Bonnet, Dunbar D Ivy, Malgorzata Zuk, Maurice Beghetti, Ingram Schulze-Neick
Different treatment options for pulmonary hypertension have emerged in recent years, and evidence-based management strategies have improved quality of life and survival in adults. In children with pulmonary vascular disease, therapeutic algorithms are not so clearly defined; this study determined current treatment initiation in children with pulmonary hypertension in participating centres of a registry. Through the multinational Tracking Outcomes and Practice in Pediatric Pulmonary Hypertension registry, patient demographics, diagnosis, and treatment as judged and executed by the local physician were collected...
December 20, 2016: Cardiology in the Young
https://www.readbyqxmd.com/read/27995132/distal-airway-dysfunction-identifies-pulmonary-inflammation-in-asymptomatic-smokers
#20
Kenneth I Berger, Deepak R Pradhan, Roberta M Goldring, Beno W Oppenheimer, William N Rom, Leopoldo N Segal
Smoking induced inflammation leads to distal airway destruction. However, the relationship between distal airway dysfunction and inflammation remains unclear, particularly in smokers prior to the development of airway obstruction. Seven normal controls and 16 smokers without chronic obstructive pulmonary disease (COPD) were studied. Respiratory function was assessed using the forced oscillation technique (FOT). Abnormal FOT was defined as elevated resistance at 5 Hz (R5). Parameters reflecting distal lung function included frequency dependence of resistance (R5-20) and dynamic elastance (X5)...
October 2016: ERJ Open Research
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