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https://www.readbyqxmd.com/read/28211240/phenotypic-spectrum-of-charcot-marie-tooth-disease-due-to-litaf-simple-mutations-a-study-of-18-patients
#1
R Guimarães-Costa, R Iancu Ferfoglia, S Leonard-Louis, F Ziegler, L Magy, E Fournier, O Dubourg, P Bouche, T Maisonobe, A Lacour, A Moerman, P Latour, T Stojkovic
BACKGROUND AND PURPOSE: Charcot-Marie-Tooth (CMT) 1C due to mutations in LITAF/SIMPLE is a rare subtype amongst the autosomal dominant demyelinating forms of CMT. Our objective was to report the clinical and electrophysiological characteristics of 18 CMT1C patients and compare them to 20 patients with PMP22 mutations: 10 CMT1A patients and 10 patients with hereditary neuropathy with liability to pressure palsies (HNPP). METHODS: Charcot-Marie-Tooth 1C patients were followed-up in referral centres for neuromuscular diseases or were identified by familial survey...
March 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28209644/mitochondrial-dysfunction-induces-dendritic-loss-via-eif2%C3%AE-phosphorylation
#2
Taiichi Tsuyama, Asako Tsubouchi, Tadao Usui, Hiromi Imamura, Tadashi Uemura
Mitochondria are key contributors to the etiology of diseases associated with neuromuscular defects or neurodegeneration. How changes in cellular metabolism specifically impact neuronal intracellular processes and cause neuropathological events is still unclear. We here dissect the molecular mechanism by which mitochondrial dysfunction induced by Prel aberrant function mediates selective dendritic loss in Drosophila melanogaster class IV dendritic arborization neurons. Using in vivo ATP imaging, we found that neuronal cellular ATP levels during development are not correlated with the progression of dendritic loss...
February 16, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/28208987/bcl6-mrna-expression-level-in-invasive-duct-carcinoma-not-otherwise-specified
#3
Eman Badr, Eman Masoud, Asmaa Gaber Abdou, Marwa Serag Eldien
INTRODUCTION: B-Cell Lymphoma 6 (BCL6) has an oncogenic role in tumourigenesis of various malignancies. It represses genes involved in terminal differentiation and plays complementary role with Signal Transducer and Activator of Transcription 3 (STAT3) in triple-negative breast cancer cellular function. AIM: To evaluate the expression of BCL6 in cancer breast and determine its correlation with the clinico-pathological features including the molecular subtype of breast carcinoma...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28208703/androgen-receptor-signaling-in-salivary-gland-cancer
#4
REVIEW
Martin G Dalin, Philip A Watson, Alan L Ho, Luc G T Morris
Salivary gland cancers comprise a small subset of human malignancies, and are classified into multiple subtypes that exhibit diverse histology, molecular biology and clinical presentation. Local disease is potentially curable with surgery, which may be combined with adjuvant radiotherapy. However, metastatic or unresectable tumors rarely respond to chemotherapy and carry a poorer prognosis. Recent molecular studies have shown evidence of androgen receptor signaling in several types of salivary gland cancer, mainly salivary duct carcinoma...
February 8, 2017: Cancers
https://www.readbyqxmd.com/read/28207989/predictors-of-influenza-a-molecular-viral-shedding-in-hutterites-communities
#5
Biao Wang, Margaret L Russell, Kevin Fonseca, David J D Earn, Gregory Horsman, Paul Van Caeseele, Khami Chokani, Mark Vooght, Lorne Babiuk, Stephen D Walter, Mark Loeb
BACKGROUND: Patterns of influenza molecular viral shedding following influenza infection have been well established; predictors of viral shedding however remain uncertain. OBJECTIVES: We sought to determine factors associated with peak molecular viral load, duration of shedding, and viral area under curve (AUC) in children and adult Hutterite colony members with laboratory confirmed influenza. METHODS: A cohort study was conducted in Hutterite colonies in Alberta, Canada...
February 16, 2017: Influenza and Other Respiratory Viruses
https://www.readbyqxmd.com/read/28207413/combinatorial-mixtures-of-multiparameter-distributions-an-application-to-bivariate-data
#6
Valeria Edefonti, Giovanni Parmigiani
Abstract: We introduce combinatorial mixtures - a flexible class of models for inference on mixture distributions whose components have multidimensional parameters. The key idea is to allow each element of the component-specific parameter vectors to be shared by a subset of other components. This approach allows for mixtures that range from very flexible to very parsimonious and unifies inference on component-specific parameters with inference on the number of components. We develop Bayesian inference and computational approaches for this class of distributions, and illustrate them in an application...
February 16, 2017: International Journal of Biostatistics
https://www.readbyqxmd.com/read/28205537/her2-alterations-in-muscle-invasive-bladder-cancer-patient-selection-beyond-protein-expression-for-targeted-therapy
#7
Bernhard Kiss, Alexander W Wyatt, James Douglas, Veronika Skuginna, Fan Mo, Shawn Anderson, Diana Rotzer, Achim Fleischmann, Vera Genitsch, Tetsutaro Hayashi, Maja Neuenschwander, Christine Buerki, Elai Davicioni, Colin Collins, George N Thalmann, Peter C Black, Roland Seiler
Although the introduction of novel targeted agents has improved patient outcomes in several human cancers, no such advance has been achieved in muscle-invasive bladder cancer (MIBC). However, recent sequencing efforts have begun to dissect the complex genomic landscape of MIBC, revealing distinct molecular subtypes and offering hope for implementation of targeted therapies. Her2 (ERBB2) is one of the most established therapeutic targets in breast and gastric cancer but agents targeting Her2 have not yet demonstrated anti-tumor activity in MIBC...
February 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28205010/prion-specific-and-surrogate-csf-biomarkers-in-creutzfeldt-jakob-disease-diagnostic-accuracy-in-relation-to-molecular-subtypes-and-analysis-of-neuropathological-correlates-of-p-tau-and-a%C3%AE-42-levels
#8
Francesca Lattanzio, Samir Abu-Rumeileh, Alessia Franceschini, Hideaki Kai, Giulia Amore, Ilaria Poggiolini, Marcello Rossi, Simone Baiardi, Lynne McGuire, Anna Ladogana, Maurizio Pocchiari, Alison Green, Sabina Capellari, Piero Parchi
The differential diagnosis of Creutzfeldt-Jakob disease (CJD) from other, sometimes treatable, neurological disorders is challenging, owing to the wide phenotypic heterogeneity of the disease. Real-time quaking-induced prion conversion (RT-QuIC) is a novel ultrasensitive in vitro assay, which, at variance with surrogate neurodegenerative biomarker assays, specifically targets the pathological prion protein (PrP(Sc)). In the studies conducted to date in CJD, cerebrospinal fluid (CSF) RT-QuIC showed good diagnostic sensitivity (82-96%) and virtually full specificity...
February 15, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28202801/molecular-epidemiology-and-strain-comparison-between-hepatitis-e-virus-in-human-sera-and-pig-livers-during-2014-2016-in-hong-kong
#9
Martin C W Chan, Kirsty Kwok, Tin-Nok Hung, Paul K S Chan
Hepatitis E virus (HEV) causes substantial morbidity and mortality in developing countries and is considered an emerging food-borne pathogen in previously non-endemic developed countries. To investigate genetic association between human HEV infection and HEV-contaminated high-risk food in Hong Kong, we compared local virus strains obtained from hepatitis E patient sera with those surveyed from high-risk food items during 2014-2016. Twenty-four cases of laboratory-confirmed human HEV infections were identified from January 2014 to March 2016 in our hospitals...
February 15, 2017: Journal of Clinical Microbiology
https://www.readbyqxmd.com/read/28202797/the-epiquant-framework-for-computing-the-epidemiological-concordance-of-microbial-subtyping-data
#10
Benjamin M Hetman, Steven K Mutschall, James E Thomas, Victor P J Gannon, Clifford G Clark, Frank Pollari, Eduardo N Taboada
A fundamental assumption in the use and interpretation of microbial subtyping results for public health investigations is that isolates that appear to be related based on molecular subtyping data are expected to share commonalities with respect to their origin, history and distribution. Critically, no approach currently exists for systematically assessing the underlying epidemiology of subtyping results. Our aim was to develop a method for directly quantifying the similarity between bacterial isolates using basic sampling metadata and to develop a framework for computing the epidemiologic concordance of microbial typing results...
February 15, 2017: Journal of Clinical Microbiology
https://www.readbyqxmd.com/read/28202458/sensitivity-to-pi3k-and-akt-inhibitors-is-mediated-by-divergent-molecular-mechanisms-in-subtypes-of-dlbcl
#11
Tabea Erdmann, Pavel Klener, James T Lynch, Michael Grau, Petra Vočková, Jan Molinsky, Diana Tuskova, Kevin Hudson, Urszula M Polanska, Michael Grondine, Michele Mayo, Beiying Dai, Matthias Pfeifer, Kristian Erdmann, Daniela Schwammbach, Myroslav Zapukhlyak, Annette M Staiger, German Ott, Wolfgang E Berdel, Barry R Davies, Francisco Cruzalegui, Marek Trneny, Peter Lenz, Simon T Barry, Georg Lenz
Activated B-cell-like (ABC) and germinal center B-cell-like (GCB) diffuse large B-cell lymphoma (DLBCL) represent the two major molecular DLBCL subtypes. They are characterized by differences in clinical course and by divergent addiction to oncogenic pathways. To determine activity of novel compounds in these two subtypes, we conducted an unbiased pharmacologic in vitro screen. The phosphatidylinositol-3-kinase (PI3K) alpha/delta (PI3Kα/δ) inhibitor AZD8835 showed marked potency in ABC DLBCL models, whereas the protein kinase B (AKT) inhibitor AZD5363 induced apoptosis in PTEN-deficient DLBCLs irrespective of their molecular subtype...
February 15, 2017: Blood
https://www.readbyqxmd.com/read/28202042/hoxc8-regulates-self-renewal-differentiation-and-transformation-of-breast-cancer-stem-cells
#12
Mansi Shah, Ryan Cardenas, Belinda Wang, Jenny Persson, Nigel P Mongan, Anna Grabowska, Cinzia Allegrucci
BACKGROUND: Homeobox genes are master regulators of cell fate during embryonic development and their expression is altered in cancer. By regulating the balance between cell proliferation and differentiation, they maintain homeostasis of normal tissues. Here, we screened the expression of homeobox genes in mammary stem cells to establish their role in stem cells transformation in breast cancer. METHODS: Using a Homeobox Genes PCR array, we screened 83 homeobox genes in normal cancer breast stem/progenitor cells isolated by flow cytometry...
February 16, 2017: Molecular Cancer
https://www.readbyqxmd.com/read/28201871/a-targeted-contrast-agent-specific-to-an-oncoprotein-in-tumor-microenvironment-with-the-potential-for-detection-and-risk-stratification-of-prostate-cancer-with-mri
#13
Zheng Han, Yajuan Li, Sarah Roelle, Zhuxian Zhou, Yuchi Liu, Rob Sabatelle, Aidan DeSanto, Xin Yu, Hui Zhu, Cristina Magi-Galluzzi, Zheng-Rong Lu
Accurate detection and risk stratification are paramount to the clinical management of prostate cancer. Current diagnostic methods, including prostate specific antigen (PSA) screening, are unable to differentiate high-risk tumors from low-risk tumors, resulting in overdiagnosis and overtreatment of numerous patients. A peptide targeted contrast agent, ZD2-Gd(HP-DO3A), specific to an oncoprotein in tumor microenvironment, EDB-FN, was synthesized for non-invasive detection and characterization of aggressive prostate cancer...
February 16, 2017: Bioconjugate Chemistry
https://www.readbyqxmd.com/read/28199325/breast-cancer-subtype-of-french-women-is-not-influenced-by-socioeconomic-status-a-population-based-study
#14
Aviane Auguste, Marion Cortet, Tienhan Sandrine Dabakuyo-Yonli, Ludivine Launay, Laurent Arnould, Isabelle Desmoulins, Patrick Roignot, Ariane Darut-Jouve, Marie-Laure Poillot, Aurélie Bertaut, Patrick Arveux
CONTEXT: The molecular subtype of breast tumours plays a major role in cancer prognosis and treatment options. Triple negative tumours (TN) carry the worst prognosis and affects most frequently women of low socioeconomic status (SES). Studies have shown that non-biologic factors, such as the socioeconomic status could have an influence on tumour biology. To this date no study has been done investigating this association in French women. The objective is to study the association between the SES and the molecular tumour subtype of breast cancer patients in the French county of Côte d'Or...
2017: PloS One
https://www.readbyqxmd.com/read/28197972/prevalence-and-molecular-characterization-of-the-hepatitis-e-virus-in-retail-pork-products-marketed-in-canada
#15
Oksana Mykytczuk, Jennifer Harlow, Sabah Bidawid, Nathalie Corneau, Neda Nasheri
Infection with the hepatitis E virus (HEV) is very common worldwide. HEV causes acute viral hepatitis with approximately 20 million cases per year. While HEV genotypes 1 and 2 cause large waterborne and foodborne outbreaks with a significant mortality in developing countries, genotypes 3 and 4 are more prevalent in developed countries with transmission being mostly zoonotic. In North America and Europe, HEV has been increasingly detected in swine, and exposure to pigs and pork products is considered to be the primary source of infection...
February 14, 2017: Food and Environmental Virology
https://www.readbyqxmd.com/read/28197361/nkp30-isoforms-and-nkp30-ligands-are-predictive-biomarkers-of-response-to-imatinib-mesylate-in-metastatic-gist-patients
#16
Sylvie Rusakiewicz, Aurélie Perier, Michaela Semeraro, Jonathan M Pitt, Elke Pogge von Strandmann, Katrin S Reiners, Sandrine Aspeslagh, Christelle Pipéroglou, Frédéric Vély, Alexandre Ivagnes, Sarah Jegou, Niels Halama, Loic Chaigneau, Pierre Validire, Christos Christidis, Thierry Perniceni, Bruno Landi, Anne Berger, Nicolas Isambert, Julien Domont, Sylvie Bonvalot, Philippe Terrier, Julien Adam, Jean-Michel Coindre, Jean-François Emile, Vichnou Poirier-Colame, Kariman Chaba, Benedita Rocha, Anne Caignard, Antoine Toubert, David Enot, Joachim Koch, Aurélien Marabelle, Marion Lambert, Sophie Caillat-Zucman, Serge Leyvraz, Christian Auclair, Eric Vivier, Alexander Eggermont, Christophe Borg, Jean-Yves Blay, Axel Le Cesne, Olivier Mir, Laurence Zitvogel
Despite effective targeted therapy acting on KIT and PDGFRA tyrosine kinases, gastrointestinal stromal tumors (GIST) escape treatment by acquiring mutations conveying resistance to imatinib mesylate (IM). Following the identification of NKp30-based immunosurveillance of GIST and the off-target effects of IM on NK cell functions, we investigated the predictive value of NKp30 isoforms and NKp30 soluble ligands in blood for the clinical response to IM. The relative expression and the proportions of NKp30 isoforms markedly impacted both event-free and overall survival, in two independent cohorts of metastatic GIST...
2017: Oncoimmunology
https://www.readbyqxmd.com/read/28196904/extracellular-matrix-receptor-expression-in-subtypes-of-lung-adenocarcinoma-potentiates-outgrowth-of-micrometastases
#17
Laura E Stevens, William Kc Cheung, Sally J Adua, Anna Arnal-Estapé, Minghui Zhao, Zongzhi Liu, Kelly Brewer, Roy S Herbst, Don X Nguyen
Mechanisms underlying the propensity of latent lung adenocarcinoma (LUAD) to relapse are poorly understood. In this study, we show how differential expression of a network of extracellular matrix (ECM) molecules and their interacting proteins contributes to risk of relapse in distinct LUAD subtypes. Overexpression of the hyaluronan receptor HMMR in primary LUAD was associated with an inflammatory molecular signature and poor prognosis. Attenuating HMMR in LUAD cells diminished their ability to initiate lung tumors and distant metastases...
February 14, 2017: Cancer Research
https://www.readbyqxmd.com/read/28196556/approach-to-atypical-alzheimer-s-disease-and-case-studies-of-the-major-subtypes
#18
Bradford C Dickerson, Scott M McGinnis, Chenjie Xia, Bruce H Price, Alireza Atri, Melissa E Murray, Mario F Mendez, David A Wolk
Alzheimer's disease (AD) has long been recognized as a heterogeneous illness, with a common clinical presentation of progressive amnesia and less common "atypical" clinical presentations, including syndromes dominated by visual, aphasic, "frontal," or apraxic symptoms. Our knowledge of atypical clinical phenotypes of AD comes from clinicopathologic studies, but with the growing use of in vivo molecular biomarkers of amyloid and tau pathology, we are beginning to recognize that these syndromes may not be as rare as once thought...
February 15, 2017: CNS Spectrums
https://www.readbyqxmd.com/read/28196207/correlation-of-long-term-results-of-imatinib-in-advanced-gastrointestinal-stromal-tumors-with-next-generation-sequencing-results-analysis-of-phase-3-swog-intergroup-trial-s0033
#19
Michael Heinrich, Cathryn Rankin, Charles D Blanke, George D Demetri, Ernest C Borden, Christopher W Ryan, Margaret von Mehren, Martin E Blackstein, Dennis A Priebat, William D Tap, Robert G Maki, Christopher L Corless, Jonathan A Fletcher, Kouros Owzar, John J Crowley, Robert S Benjamin, Laurence H Baker
Importance: After identification of activating mutations of the KIT gene in gastrointestinal stromal tumor (GIST)-the most common sarcomaof the gastrointestinal tract-a phase 2 study demonstrated efficacy of imatinib mesylate in patients with metastatic GIST harboring a KIT exon 11 mutation. Initial results of long-term follow-up have found a survival benefit in this subgroup of patients. Obective: To assess the long-term survival of patients with GIST who were treated in SWOG study S0033 and to present new molecular data regarding treatment outcomes...
February 9, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/28195647/molecular-classification-of-urothelial-carcinoma-global-mrna-classification-versus-tumour-cell-phenotype-classification
#20
Gottfrid Sjödahl, Pontus Eriksson, Fredrik Liedberg, Mattias Höglund
Global mRNA expression analysis is efficient for phenotypic profiling of tumours and has been used to define molecular subtypes for almost every major tumour type. A key limitation is that most tumours are communities of both tumour and non-tumour cells. This problem is particularly pertinent when analysing advanced invasive tumours, known to induce major changes and responses in both the tumour and the surrounding tissue. To identify bladder cancer tumour-cell phenotypes and compare classification by tumour-cell phenotype with classification by global gene expression analysis, we analysed 307 advanced bladder cancers (cystectomised) both by genome gene expression analysis and by immunohistochemistry using antibodies for 28 proteins...
February 13, 2017: Journal of Pathology
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