keyword
MENU ▼
Read by QxMD icon Read
search

Genomics clinical

keyword
https://www.readbyqxmd.com/read/29474635/genetic-mutations-associated-with-lung-cancer-metastasis-to-the-brain
#1
Hashim M Aljohani, Mohamed Aittaleb, John M Furgason, Peter Amaya, Ayham Deeb, Jeffery J Chalmers, El Mustapha Bahassi
Approximately 90% of all cancer deaths arise from the metastatic spread of primary tumours. Of all the processes involved in carcinogenesis, local invasion and the formation of metastases are clinically the most relevant, but they are the least well understood at the molecular level. As a barrier to metastasis, cells normally undergo an apoptotic process known as 'anoikis', in circulation. The recent technological advances in the isolation and characterisation of rare circulating tumour cells (CTCs) will allow a better understanding of anoikis resistance...
February 21, 2018: Mutagenesis
https://www.readbyqxmd.com/read/29474574/evidence-based-medicine-and-big-genomic-data
#2
John P A Ioannidis, Muin J Khoury
Genomic and other related big data (Big Genomic Data, BGD for short) are ushering a new era of precision medicine. This overview discusses whether principles of evidence-based medicine (EBM) hold true for BGD and how they should be operationalized in the current era. Major EBM principles include the systematic identification, description and analysis of the validity and utility of BGD, the combination of individual clinical expertise with individual patient needs and preferences, and the focus on obtaining experimental evidence, whenever possible...
February 20, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29474464/clinical-and-genetic-characterisation-of-dystrophin-deficient-muscular-dystrophy-in-a-family-of-miniature-poodle-dogs
#3
Lluís Sánchez, Elsa Beltrán, Alberta de Stefani, Ling T Guo, Anita Shea, G Diane Shelton, Luisa De Risio, Louise M Burmeister
Four full-sibling intact male Miniature Poodles were evaluated at 4-19 months of age. One was clinically normal and three were affected. All affected dogs were reluctant to exercise and had generalised muscle atrophy, a stiff gait and a markedly elevated serum creatine kinase activity. Two affected dogs also showed poor development, learning difficulties and episodes of abnormal behaviour. In these two dogs, investigations into forebrain structural and metabolic diseases were unremarkable; electromyography demonstrated fibrillation potentials and complex repetitive discharges in the infraspinatus, supraspinatus and epaxial muscles...
2018: PloS One
https://www.readbyqxmd.com/read/29474005/pharmgkb-a-worldwide-resource-for-pharmacogenomic-information
#4
REVIEW
Julia M Barbarino, Michelle Whirl-Carrillo, Russ B Altman, Teri E Klein
As precision medicine becomes increasingly relevant in healthcare, the field of pharmacogenomics (PGx) also continues to gain prominence in the clinical setting. Leading institutions have begun to implement PGx testing and the amount of published PGx literature increases yearly. The Pharmacogenomics Knowledgebase (PharmGKB; www.pharmgkb.org) is one of the foremost worldwide resources for PGx knowledge, and the organization has been adapting and refocusing its mission along with the current revolution in genomic medicine...
February 23, 2018: Wiley Interdisciplinary Reviews. Systems Biology and Medicine
https://www.readbyqxmd.com/read/29473791/first-report-of-an-st410-oxa-181-and-ctx-m-15-coproducing-escherichia-coli-clone-in-italy-a-whole-genome-sequence-characterization
#5
Aurora Piazza, Francesco Comandatore, Francesca Romeri, Cristina Pagani, Anna Maria Floriano, Annalisa Ridolfo, Carlo Antona, Matteo Brilli, Vittoria Mattioni Marchetti, Claudio Bandi, Maria Rita Gismondo, Sara Giordana Rimoldi
We investigated an Italian OXA-181-producing Escherichia coli clinical isolate (ECS1_14) by whole-genome sequencing. The strain coharbored blaCTX-M-15 , blaCMY-2 , and qnrS1 genes; it belonged to ST410(Achtman)/ST692(Pasteur) and phylogroup A. The blaOXA-181 gene was harbored on a plasmid highly similar (99% identity) to the pOXA181_EC14828 plasmid, recently reported in China.
February 23, 2018: Microbial Drug Resistance: MDR: Mechanisms, Epidemiology, and Disease
https://www.readbyqxmd.com/read/29473526/there-is-no-difference-between-sequences-of-hiv-1-infected-patients-with-stable-clinical-status-and-hiv-1-reference-sequence
#6
Kazem Baesi, Marzyeh Nili, Katayoun Tayeri, Mohamad Gholami, Samaneh Moallemi, Farzaneh Sabahi, Saber Kalhori, Mehrdad Hasibi
BACKGROUND: The rate of human immunodeficiency virus type 1 (HIV-1) infection in Iran has increased dramatically in the past few years. HIV-1 genome sequences are pivotal for large-scale studies of inter- and intra-host evolution. To understand the molecular difference between reference HIV-1 isolate and two HIV-1 infected patients in Iran, we conducted this study to analyze some genome segments of Iranian HIV-1 isolates. METHODS: Two HIV-1-infected individuals who were under antiretroviral therapy (ARV) for 8 years with stable clinical status were enrolled...
February 21, 2018: Infectious Disorders Drug Targets
https://www.readbyqxmd.com/read/29473487/new-design-development-and-optimization-of-an-in-house-quantitative-taqman-real-time-pcr-assay-for-hiv-1-viral-load-measurement
#7
Hassan Noorbazargan, Seyed Alireza Nadji, Siamak Mirab Samiee, Mahdi Paryan, Samira Mohammadi-Yeganeh
Background Viral load measurement is commonly applicable to monitor HIV infection in patients to determine the number of HIV-RNA in serum samples of individuals. The aim of the present study was to set up a highly specific, sensitive, and reproducible home-brewed Real-time PCR assay based on TaqMan chemistry to quantify HIV-1 RNA genome. Methods In this study, three sets of primer pairs and a TaqMan probe were designed for HIV subtypes conserved sequences. An internal control was included in this assay to evaluate the presence of inhibition...
February 23, 2018: HIV Clinical Trials
https://www.readbyqxmd.com/read/29473326/prediction-of-radiotherapy-response-with-a-5-microrna-signature-based-nomogram-in-head-and-neck-squamous-cell-carcinoma
#8
Lin Chen, Yihui Wen, Jingwei Zhang, Wei Sun, Vivian W Y Lui, Yi Wei, Fenghong Chen, Weiping Wen
Radiotherapy is unlikely to benefit all patients with head and neck squamous cell carcinoma (HNSCC). Therefore, novel method is warranted to predict the radiotherapy response. Our study aimed to construct a microRNA (miRNA)-based nomogram to predict clinical outcomes of patients with HNSCC receiving radiotherapy. We screened out 56 differential miRNAs by analyzing 44 paired tumor and adjacent normal samples miRNA expression profiles from The Cancer Genome Atlas (TCGA). A total of 307 patients with HNSCC receiving adjuvant radiotherapy were randomly divided into a training set (n = 154) and a validation set (n = 153)...
February 23, 2018: Cancer Medicine
https://www.readbyqxmd.com/read/29473279/autism-spectrum-disorder-and-genetic-testing-parental-perceptions-and-decision-making
#9
Alyson E Hanish, Marlene Z Cohen, Lois J Starr
PURPOSE: Advances in genomic technology and research have led to genetic testing being recognized as an essential component of the etiological workup for children with autism spectrum disorder (ASD). Chromosomal microarray analysis (CMA) is a first-tier diagnostic test for patients with ASD, as recommended by the American College of Medical Genetics and other professional societies. An accurate underlying medical diagnosis for ASD has many potential benefits, including appropriate medical management, detailed therapeutic recommendations, and accurate recurrence risk...
February 23, 2018: Journal for Specialists in Pediatric Nursing: JSPN
https://www.readbyqxmd.com/read/29473246/variantpathogenicity-evaluationin-the-community-driven-inherited-neuropathy-variant-browser
#10
Cima Saghira, Dana M Bis, David Stanek, Alleene Strickland, David N Herrmann, Mary M Reilly, Steven S Scherer, Michael E Shy, Stephan Züchner
Charcot-Marie-Tooth disease (CMT) is an umbrella term for inherited neuropathies affecting an estimated 1 in 2500 people. Over 120 CMT and related genes have been identified and clinical gene panelsoften contain more than 100 genes. Such a large genomic space will invariantly yield variants of uncertain clinical significance (VUS) in nearly any person tested. This rise in number of VUS creates major challenges for genetic counseling. Additionally, fewer individual variants in known genes are being published as the academic merit is decreasing, and most testing now happens in clinical laboratories, which typically do not correlate their variants with clinical phenotypes...
February 22, 2018: Human Mutation
https://www.readbyqxmd.com/read/29473182/the-androgen-receptor-malignancy-shift-in-prostate-cancer
#11
REVIEW
Ben T Copeland, Sumanta K Pal, Eric C Bolton, Jeremy O Jones
BACKGROUND: Androgens and the androgen receptor (AR) are necessary for the development, function, and homeostatic growth regulation of the prostate gland. However, once prostate cells are transformed, the AR is necessary for the proliferation and survival of the malignant cells. This change in AR function appears to occur in nearly every prostate cancer. We have termed this the AR malignancy shift. METHODS: In this review, we summarize the current knowledge of the AR malignancy shift, including the DNA-binding patterns that define the shift, the transcriptome changes associated with the shift, the putative drivers of the shift, and its clinical implications...
February 23, 2018: Prostate
https://www.readbyqxmd.com/read/29473046/duplications-at-19q13-33-in-patients-with-neurodevelopmental-disorders
#12
Eduardo Pérez-Palma, Elmo Saarentaus, Marie Ravoet, Giancarlo V De Ferrari, Peter Nürnberg, Bertrand Isidor, Bernd A Neubauer, Dennis Lal
Objective: After the recent publication of the first patients with disease-associated missense variants in the GRIN2D gene, we evaluate the effect of copy number variants (CNVs) overlapping this gene toward the presentation of neurodevelopmental disorders (NDDs). Methods: We explored ClinVar (number of CNVs = 50,794) and DECIPHER (number of CNVs = 28,085) clinical databases of genomic variations for patients with copy number changes overlapping the GRIN2D gene at the 19q13...
February 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/29472910/exploring-the-genomic-traits-of-non-toxigenic-vibrio-parahaemolyticus-strains-isolated-in-southern-chile
#13
Daniel Castillo, Diliana Pérez-Reytor, Nicolás Plaza, Sebastián Ramírez-Araya, Carlos J Blondel, Gino Corsini, Roberto Bastías, David E Loyola, Víctor Jaña, Leonardo Pavez, Katherine García
Vibrio parahaemolyticus is the leading cause of seafood-borne gastroenteritis worldwide. As reported in other countries, after the rise and fall of the pandemic strain in Chile, other post-pandemic strains have been associated with clinical cases, including strains lacking the major toxins TDH and TRH. Since the presence or absence of tdh and trh genes has been used for diagnostic purposes and as a proxy of the virulence of V. parahaemolyticus isolates, the understanding of virulence in V. parahaemolyticus strains lacking toxins is essential to detect these strains present in water and marine products to avoid possible food-borne infection...
2018: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29472380/spontaneous-coronary-artery-dissection-current-state-of-the-science-a-scientific-statement-from-the-american-heart-association
#14
REVIEW
Sharonne N Hayes, Esther S H Kim, Jacqueline Saw, David Adlam, Cynthia Arslanian-Engoren, Katherine E Economy, Santhi K Ganesh, Rajiv Gulati, Mark E Lindsay, Jennifer H Mieres, Sahar Naderi, Svati Shah, David E Thaler, Marysia S Tweet, Malissa J Wood
Spontaneous coronary artery dissection (SCAD) has emerged as an important cause of acute coronary syndrome, myocardial infarction, and sudden death, particularly among young women and individuals with few conventional atherosclerotic risk factors. Patient-initiated research has spurred increased awareness of SCAD, and improved diagnostic capabilities and findings from large case series have led to changes in approaches to initial and long-term management and increasing evidence that SCAD not only is more common than previously believed but also must be evaluated and treated differently from atherosclerotic myocardial infarction...
February 22, 2018: Circulation
https://www.readbyqxmd.com/read/29472357/plerixafor-enables-the-safe-rapid-efficient-mobilization-of-haematopoietic-stem-cells-in-sickle-cell-disease-patients-after-exchange-transfusion
#15
Chantal Lagresle-Peyrou, François Lefrère, Elisa Magrin, Jean-Antoine Ribeil, Oriana Romano, Leslie Weber, Alessandra Magnani, Hanem Sadek, Clémence Plantier, Aurélie Gabrion, Brigitte Ternaux, Tristan Félix, Chloé Couzin, Aurélie Stanislas, Jean-Marc Tréluyer, Lionel Lamhaut, Laure Joseph, Marianne Delville, Annarita Miccio, Isabelle André-Schmutz, Marina Cavazzana
Sickle cell disease is characterized by chronic anaemia and vaso-occlusive crises, which eventually lead to multi-organ damage and premature death. Haematopoietic stem cell transplantation is the only curative treatment but it is limited by toxicity and poor availability of HLA-compatible donors. A gene therapy approach based on the autologous transplantation of lentiviral-corrected haematopoietic stem and progenitor cells was shown to be efficacious in one patient. However, alterations of the bone marrow environment and the red blood cells' properties hamper the harvesting and immunoselection of patient stem cells from bone marrow...
February 22, 2018: Haematologica
https://www.readbyqxmd.com/read/29472349/clinical-relevance-of-idh1-2-mutant-allele-burden-during-follow-up-in-acute-myeloid-leukemia-a-study-by-the-french-alfa-group
#16
Yann Ferret, Nicolas Boissel, Nathalie Helevaut, Jordan Madic, Olivier Nibourel, Alice Marceau-Renaut, Maxime Bucci, Sandrine Geffroy, Karine Celli-Lebras, Sylvie Castaigne, Xavier Thomas, Christine Terré, Hervé Dombret, Claude Preudhomme, Aline Renneville
Assessment of minimal residual disease has emerged as a powerful prognostic factor in acute myeloid leukemia. In this study, we investigated the potential of IDH1/2 mutations as targets for minimal residual disease assessment in acute myeloid leukemia, since these mutations collectively occur in 15-20% of acute myeloid leukemia and now represent druggable targets. We employed droplet digital PCR assays to quantify IDH1R132, IDH2R140, and IDH2R172 mutations on genomic DNA in 322 samples from 103 adult patients with primary IDH1/2 mutant acute myeloid leukemia and enrolled on Acute Leukemia French Association (ALFA) -0701 or -0702 clinical trials...
February 22, 2018: Haematologica
https://www.readbyqxmd.com/read/29471852/cdk9-inhibitors-in-acute-myeloid-leukemia
#17
REVIEW
Silvia Boffo, Angela Damato, Luigi Alfano, Antonio Giordano
Current treatment for acute myeloid leukemia (AML) is less than optimal, but increased understanding of disease pathobiology and genomics has led to clinical investigation of novel targeted therapies and rational combinations. Targeting the cyclin-dependent kinase 9 (CDK9) pathway, which is dysregulated in AML, is an attractive approach. Inhibition of CDK9 leads to downregulation of cell survival genes regulated by super enhancers such as MCL-1, MYC, and cyclin D1. As CDK9 inhibitors are nonselective, predictive biomarkers that may help identify patients most likely to respond to CDK9 inhibitors are now being utilized, with the goal of improving efficacy and safety...
February 23, 2018: Journal of Experimental & Clinical Cancer Research: CR
https://www.readbyqxmd.com/read/29471565/fibrolamellar-carcinoma-recent-advances-and-unresolved-questions-on-the-molecular-mechanisms
#18
Gadi Lalazar, Sanford M Simon
Fibrolamellar hepatocellular carcinoma (FLC) is a rare form of primary liver cancer that affects adolescents and young adults without underlying liver disease. Surgery remains the mainstay of therapy; however, most patients are either not surgical candidates or suffer from recurrence. There is no approved systemic therapy and the overall survival remains poor. Historically classified as a subtype of hepatocellular carcinoma (HCC), FLC has a unique clinical, histological, and molecular presentation. At the genomic level, FLC contains a single 400kB deletion in chromosome 19, leading to a functional DNAJB1-PRKACA fusion protein...
February 2018: Seminars in Liver Disease
https://www.readbyqxmd.com/read/29471503/the-role-of-the-reprogramming-method-and-pluripotency-state-in-gamete-differentiation-from-patient-specific-human-pluripotent-stem-cells
#19
S Mishra, E Kacin, P Stamatiadis, S Franck, M Van der Jeught, H Mertes, G Pennings, P De Sutter, K Sermon, B Heindryckx, M Geens
The derivation of gametes from patient-specific pluripotent stem cells may provide new perspectives for genetic parenthood for patients currently facing sterility. We use current data to assess the gamete differentiation potential of patient-specific pluripotent stem cells and to determine which reprogramming strategy holds the greatest promise for future clinical applications. First, we compare the two best established somatic cell reprogramming strategies: the production of induced pluripotent stem cells (iPSC) and somatic cell nuclear transfer followed by embryonic stem cell derivation (SCNT-ESC)...
February 19, 2018: Molecular Human Reproduction
https://www.readbyqxmd.com/read/29471435/immune-infiltration-in-invasive-lobular-breast-cancer
#20
Christine Desmedt, Roberto Salgado, Marco Fornili, Giancarlo Pruneri, Gert Van den Eynden, Gabriele Zoppoli, Françoise Rothé, Laurence Buisseret, Soizic Garaud, Karen Willard-Gallo, David Brown, Yacine Bareche, Ghizlane Rouas, Christine Galant, François Bertucci, Sherene Loi, Giuseppe Viale, Angelo Di Leo, Andrew R Green, Ian O Ellis, Emad A Rakha, Denis Larsimont, Elia Biganzoli, Christos Sotiriou
Background: Invasive lobular breast cancer (ILC) is the second most common histological subtype of breast cancer after invasive ductal cancer (IDC). Here, we aimed at evaluating the prevalence, levels, and composition of tumor-infiltrating lymphocytes (TILs) and their association with clinico-pathological and outcome variables in ILC, and to compare them with IDC. Methods: We considered two patient series with TIL data: a multicentric retrospective series (n = 614) and the BIG 02-98 study (n = 149 ILC and 807 IDC)...
February 20, 2018: Journal of the National Cancer Institute
keyword
keyword
28768
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"