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Appropriate use criteria genetics

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https://www.readbyqxmd.com/read/30081913/a-bioreactor-system-for-the-manufacture-of-a-genetically-modified-plasmodium-falciparum-blood-stage-malaria-cell-bank-for-use-in-a-clinical-trial
#1
Rebecca Pawliw, Rebecca Farrow, Silvana Sekuloski, Helen Jennings, Julie Healer, Thuan Phuong, Pri Sathe, Cielo Pasay, Krystal Evans, Alan F Cowman, Louis Schofield, Nanhua Chen, James McCarthy, Katharine Trenholme
BACKGROUND: Although the use of induced blood stage malaria infection has proven to be a valuable tool for testing the efficacy of vaccines and drugs against Plasmodium falciparum, a limiting factor has been the availability of Good Manufacturing Practice (GMP)-compliant defined P. falciparum strains for in vivo use. The aim of this study was to develop a cost-effective method for the large-scale production of P. falciparum cell banks suitable for use in clinical trials. METHODS: Genetically-attenuated parasites (GAP) were produced by targeted deletion of the gene encoding the knob associated histidine rich protein (kahrp) from P...
August 6, 2018: Malaria Journal
https://www.readbyqxmd.com/read/30056445/current-paediatric-coeliac-disease-screening-strategies-and-relevance-of-questionnaire-survey
#2
REVIEW
Lyudmila V Savvateeva, Svetlana I Erdes, Anton S Antishin, Andrey A Zamyatnin
Coeliac disease (CD) is an autoimmune enteropathy triggered by the ingestion of gluten-containing grains in genetically predisposed individuals. Identification of CD in clinical practice is often difficult due to the manifestation of non-specific symptoms and signs, so a relatively significant proportion of CD cases remain undiagnosed. Timely detection of the disease is necessary to provide an appropriate approach to control of the disease treatment, in order to avoid potential complications. This is even more important in the case of children and adolescents, to ensure their proper growth and development...
July 27, 2018: International Archives of Allergy and Immunology
https://www.readbyqxmd.com/read/30040829/brca1-founder-mutations-and-beyond-in-the-polish-population-a-single-institution-brca1-2-next-generation-sequencing-study
#3
Artur Kowalik, Monika Siołek, Janusz Kopczyński, Kamila Krawiec, Joanna Kalisz, Sebastian Zięba, Beata Kozak-Klonowska, Elżbieta Wypiórkiewicz, Jowita Furmańczyk, Ewelina Nowak-Ozimek, Małgorzata Chłopek, Paweł Macek, Jolanta Smok-Kalwat, Stanisław Góźdź
Hereditary mutations in BRCA1/2 genes increase the risk of breast cancer by 60-80% and ovarian cancer by about 20-40% in female carriers. Detection of inherited mutations in asymptomatic carriers allows for the implementation of appropriate preventive measures. BRCA1/2 genotyping is also important for poly(adenosine diphosphate)-ribose polymerase (PARP) inhibitor administration. This work addresses the need for next-generation sequencing (NGS) technology for the detection of BRCA1/2 mutations in Poland where until recently mostly founder mutations have been tested, and whether BRCA diagnostics should be extended beyond the panel of founder mutations in this population...
2018: PloS One
https://www.readbyqxmd.com/read/29955634/autism-and-heritable-bone-fragility-a-true-association
#4
Meena Balasubramanian, Rebecca Jones, Elizabeth Milne, Charlotte Marshall, Paul Arundel, Kath Smith, Nicholas J Bishop
Objectives: Osteogenesis Imperfecta (OI) is a heterogeneous condition mainly characterised by bone fragility; intelligence is reported to be normal. However, a minority of children seen also show symptomology consistent with an 'Autism Spectrum Disorder'. A joint genetics and psychology research study was undertaken to identify these patients using 'Gold Standard' research tools: Autism Diagnostic Inventory Revised (ADI-R); Autism Diagnostic Observation Schedule (ADOS) and undertake genetic analyses in them...
June 2018: Bone Reports
https://www.readbyqxmd.com/read/29915644/right-ventricular-dysplasia-management-and-treatment-in-light-of-current-evidence
#5
REVIEW
Amr Idris, Syed Raza Shah, Ki Park
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare cardiovascular disease that predisposes to ventricular arrhythmias potentially leading to sudden cardiac death (SCD). ARVC varies considerably with multiple clinical presentations, ranging from no symptoms to cardiac arrhythmias to SCD. ARVC prevalence is not well known, but the estimated prevalence in the general population is 1:5000. Diagnosis of ARVC can be made by using the Revised European Society of Cardiology criteria for ARVC that includes ventricular structural and functional changes, ECG abnormalities, arrhythmias, family and genetic factors...
2018: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/29908140/cryptosporidium-genotyping-in-europe-the-current-status-and-processes-for-a-harmonised-multi-locus-genotyping-scheme
#6
Rachel M Chalmers, Gregorio Pérez-Cordón, Simone M Cacció, Christian Klotz, Lucy J Robertson
Due to the occurrence of genetic recombination, a reliable and discriminatory method to genotype Cryptosporidium isolates at the intra-species level requires the analysis of multiple loci, but a standardised scheme is not currently available. A workshop was held at the Robert Koch Institute, Berlin in 2016 that gathered 23 scientists with appropriate expertise (in either Cryptosporidium genotyping and/or surveillance, epidemiology or outbreaks) to discuss the processes for the development of a robust, standardised, multi-locus genotyping (MLG) scheme and propose an approach...
June 13, 2018: Experimental Parasitology
https://www.readbyqxmd.com/read/29845639/efficacy-of-benzocaine-eugenol-and-menthol-as-anesthetics-for-freshwater-angelfish
#7
Rafael de Souza Romaneli, André Zuffo Boaratti, Andressa Tellechea Rodrigues, Daniel Monge de Almeida Queiroz, Kifayat Ullah Khan, Thiago Matias Torres Nascimento, João Batista Kochenborger Fernandes, Cleber Fernando Menegasso Mansano
For the production and commercialization of ornamental fish species, it is indispensable to collect biometric data that facilitate the selection of animals for trade and genetic improvement of the stock. However, during the handling process, fish receive more stress if proper anesthetics are not used. Thus, application of appropriate anesthetics is an important tool for minimizing stress in animals. The objective of this study was to determine the effective concentrations of benzocaine, eugenol, and menthol for achieving anesthesia in Freshwater Angelfish Pterophyllum scalare and to develop induction and recovery response curves for different concentrations of these anesthetics...
May 29, 2018: Journal of Aquatic Animal Health
https://www.readbyqxmd.com/read/29728923/association-between-polymorphisms-in-vitamin-d-receptor-gene-and-adolescent-idiopathic-scoliosis-a-meta-analysis
#8
Jun Dai, Zheng-Tao Lv, Jun-Ming Huang, Peng Cheng, Huang Fang, An-Min Chen
PURPOSE: This meta-analysis was performed to clarify whether the two single nucleotide polymorphisms (ApaI and BsmI) in vitamin D receptor (VDR) gene conferred susceptibility to adolescent idiopathic scoliosis (AIS). METHODS: A comprehensive literature search in five online databases (PubMed, EMBASE, ISI Web of Science, CNKI, and Wanfang) was performed to identify studies that analyzed the association between VDR gene polymorphisms and risk of AIS. Observational studies met the predetermined inclusion criteria were selected for meta-analysis...
May 4, 2018: European Spine Journal
https://www.readbyqxmd.com/read/29685817/unintended-effects-in-genetically-modified-food-feed-safety-a-way-forward
#9
Antonio Fernandez, Claudia Paoletti
Identifying and assessing unintended effects in genetically modified food and feed are considered paramount by the Food and Agricultural Organization (FAO), World Health Organization (WHO), and Codex Alimentarius, despite heated debate. This paper addresses outstanding needs: building consensus on the history-of-safe-use concept, harmonizing criteria to select appropriate conventional counterparts, and improving endpoint selection to identify unintended effects.
April 20, 2018: Trends in Biotechnology
https://www.readbyqxmd.com/read/29614442/the-role-of-genomic-profiling-in-adolescents-and-young-adults-ayas-with-advanced-cancer-participating-in-phase-i-clinical-trials
#10
Terri Patricia McVeigh, Raghav Sundar, Nikolaos Diamantis, Stan B Kaye, Udai Banerji, Juanita S Lopez, Johann de Bono, Winette T A van der Graaf, Angela J George
INTRODUCTION: Adolescents and young adults (AYAs) diagnosed with cancer between ages 15-39 years may harbour germline variants associated with cancer predisposition. Such variants represent putative therapeutic targets, as may somatic variants in the tumour. Germline and tumour molecular profiling is increasingly utilised to facilitate personalisation of cancer treatment in such individuals. AIM: Considering AYAs with advanced solid tumours managed in a specialist drug development unit (DDU), the aims of this study were to investigate the use and impact of: 1...
May 2018: European Journal of Cancer
https://www.readbyqxmd.com/read/29579788/risk-factors-for-gastric-cancer-a-systematic-review
#11
REVIEW
Ali Reza Yusefi, Kamran Bagheri Lankarani, Peivand Bastani, Maryam Radinmanesh, Zahra Kavosi
Objective: Gastric cancer is one of the leading causes of death worldwide, with many influences contributing to the disease. The aim of this study was to identify the most important risk factors. Methods: This study was conducted in 2017 with a structured overview in the Science Directe, Scopus, PubMed, Cochrane, Web of Science (ISI) databases. In the first step, articles were extracted based on their titles and abstracts; the quality of 43 articles was evaluated using the STORBE tool. Inclusion criteria were studies carried out on human, English language (first step), year of the study and the study type (second step)...
March 27, 2018: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/29485257/pediatric-melanoma-update
#12
Lindsay McCORMACK, Elena B Hawryluk
Pediatric melanoma is a rare disease that affects approximately 6 out of every one million children and accounts for 1-4 percent of all melanomas. This article reviews the epidemiology, etiology, diagnosis, treatment and prognosis of pediatric melanoma - with particular attention to recent updates in the literature. While awareness of melanoma increases among the general population, recent data suggest stable and even declining incidence rates among certain pediatric populations. Studies have examined clinical features and presentations of melanoma among the pediatric population and the conventional ABCDE criteria used to diagnosis adult melanoma may not be entirely appropriate for pediatric melanoma; as such, additional pediatric-ABCD and CUP criteria have been proposed...
February 26, 2018: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/29471816/idiopathic-pulmonary-fibrosis-pathogenesis-and-management
#13
REVIEW
Giacomo Sgalla, Bruno Iovene, Mariarosaria Calvello, Margherita Ori, Francesco Varone, Luca Richeldi
BACKGROUND: Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive disease characterized by the aberrant accumulation of fibrotic tissue in the lungs parenchyma, associated with significant morbidity and poor prognosis. This review will present the substantial advances achieved in the understanding of IPF pathogenesis and in the therapeutic options that can be offered to patients, and will address the issues regarding diagnosis and management that are still open. MAIN BODY: Over the last two decades much has been clarified about the pathogenic pathways underlying the development and progression of the lung scarring in IPF...
February 22, 2018: Respiratory Research
https://www.readbyqxmd.com/read/29435155/assessment-of-a-new-genomic-classification-system-in-acute-myeloid-leukemia-with-a-normal-karyotype
#14
Jae-Sook Ahn, Hyeoung-Joon Kim, Yeo-Kyeoung Kim, Seung-Shin Lee, Seo-Yeon Ahn, Sung-Hoon Jung, Deok-Hwan Yang, Je-Jung Lee, Hee Jeong Park, Ja-Yeon Lee, Seung Hyun Choi, Chul Won Jung, Jun-Ho Jang, Hee Je Kim, Joon Ho Moon, Sang Kyun Sohn, Yoo Jin Lee, Jong-Ho Won, Sung-Hyun Kim, Zhaolei Zhang, TaeHyung Kim, Dennis Dong Hwan Kim
This study was performed to assess if a recently recommended genomic classification is predictive in patients with normal-karyotype (NK) acute myeloid leukemia (AML). A total of 393 patients were included. Analysis of genetic mutations was performed using targeted resequencing with an Illumina Hiseq 2000. We identified driver mutations across 40 genes, with one or more driver mutations identified in 95.7% of patients. The molecular subclassification was as follows: 34.6% patients (n = 136) with AML with the NPM1 mutation, 10...
January 12, 2018: Oncotarget
https://www.readbyqxmd.com/read/29432246/evaluation-and-management-of-the-child-with-autism-spectrum-disorder
#15
Nicole Baumer, Sarah J Spence
PURPOSE OF REVIEW: Autism spectrum disorder is a neurodevelopmental disorder defined by deficits in social communication and the presence of restricted and repetitive behaviors and interests. This article provides the tools to diagnose and manage patients with autism spectrum disorder. RECENT FINDINGS: Autism spectrum disorder is a heterogeneous condition with varying presentations, multiple etiologies, and a number of comorbidities that impact the course and management of the disorder...
February 2018: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/29420752/the-significance-of-human-spermatozoa-vacuoles-can-be-elucidated-by-a-novel-procedure-of-array-comparative-genomic-hybridization
#16
Arie Berkovitz, Yaron Dekel, Revital Goldstein, Shhadeh Bsoul, Yossy Machluf, Dani Bercovich
STUDY QUESTION: Is there an association between spermatozoon genomic stability and vacuolar morphology and location? SUMMARY ANSWER: The genomic stability of spermatozoa is associated with specific characteristics of vacuolar morphology (depth) and location (cellular compartment, i.e. nucleus and equatorial region). WHAT IS KNOWN ALREADY: Genetic anomalies in sperm are correlated with semen abnormalities, yet the advantage of morphologically based selection of spermatozoa for IVF according to current criteria is controversial...
April 1, 2018: Human Reproduction
https://www.readbyqxmd.com/read/29412239/association-of-multiple-genetic-variants-with-the-extension-and-severity-of-coronary-artery-disease
#17
Simone Cristina Pinto Matheus Fischer, Simone Pires Pinto, Lívia Campos do Amaral Silva Lins, Henrique Tria Bianco, Carlos Manoel de Castro Monteiro, Luiz Fernando Muniz Pinheiro, Francisco Antonio Helfenstein Fonseca, Maria Cristina de Oliveira Izar
BACKGROUND: Metabolic syndrome (MS) is a condition that, when associated with ischemic heart disease and cardiovascular events, can be influenced by genetic variants and determine more severe coronary atherosclerosis. OBJECTIVES: To examine the contribution of genetic polymorphisms to the extension and severity of coronary disease in subjects with MS and recent acute coronary syndrome (ACS). METHODS: Patients (n = 116, 68% males) aged 56 (9) years, with criteria for MS, were prospectively enrolled to the study during the hospitalization period after an ACS...
January 2018: Arquivos Brasileiros de Cardiologia
https://www.readbyqxmd.com/read/29367032/the-seroprevalence-rate-and-population-genetic-structure-of-human-cystic-echinococcosis-in-the-middle-east-a-systematic-review-and-meta-analysis
#18
REVIEW
Tahereh Mikaeili Galeh, Adel Spotin, Mahmoud Mahami-Oskouei, David Carmena, Mohammad Taghi Rahimi, Aleksandra Barac, Roghayeh Ghoyounchi, Reza Berahmat, Ehsan Ahmadpour
Cystic echinococcosis (CE) represents an increasing public health concern in many parts of the world, including the Middle East. The present study is the first systematic review and meta-analysis to assess the seroprevalence rate and population genetic structure of human CE in the eastern Mediterranean region. To estimate the population genetic structure, Echinococcus sequences of the cytochrome oxidase subunit 1 (cox1) gene isolated from countries from this geographical area were retrieved from the GenBank database...
March 2018: International Journal of Surgery
https://www.readbyqxmd.com/read/29360614/impact-of-multigene-panel-testing-on-surgical-decision-making-in-breast-cancer-patients
#19
Holly J Pederson, Dharmesh Gopalakrishnan, Ryan Noss, Courtney Yanda, Charis Eng, Stephen R Grobmyer
BACKGROUND: With the advent of multigene panel testing for breast cancer patients, germline mutations with unknown association with cancer risk, known as variants of uncertain significance (VUS), are being increasingly identified. Some studies have shown higher rates of contralateral prophylactic mastectomies (CPM) in these patients, despite lack of evidence to support this intervention. We analyzed surgical choices in patients who were identified to have VUS. STUDY DESIGN: A retrospective review was performed of patients with triple-negative breast cancer treated at a single institution after multigene panel tests became available (September 1, 2013 to February 28, 2017)...
April 2018: Journal of the American College of Surgeons
https://www.readbyqxmd.com/read/29337664/containment-studies-of-transgenic-mosquitoes-in-disease-endemic-countries-the-broad-concept-of-facilities-readiness
#20
M Megan Quinlan, Josephine Birungi, Mamadou B Coulibaly, Abdoulaye Diabaté, Luca Facchinelli, Wolfgang Richard Mukabana, James Mutuku Mutunga, Tony Nolan, Peter Raymond, Sékou F Traoré
Genetic strategies for large scale pest or vector control using modified insects are not yet operational in Africa, and currently rely on import of the modified strains to begin preliminary, contained studies. Early involvement of research teams from participating countries is crucial to evaluate candidate field interventions. Following the recommended phased approach for novel strategies, evaluation should begin with studies in containment facilities. Experiences to prepare facilities and build international teams for research on transgenic mosquitoes revealed some important organizing themes underlying the concept of "facilities readiness," or the point at which studies in containment may proceed, in sub-Saharan African settings...
January 2018: Vector Borne and Zoonotic Diseases
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