keyword
MENU ▼
Read by QxMD icon Read
search

Genetic testing

keyword
https://www.readbyqxmd.com/read/28813090/brazilian-consensus-on-duchenne-muscular-dystrophy-part-1-diagnosis-steroid-therapy-and-perspectives
#1
Alexandra P Q C Araujo, Alzira A S de Carvalho, Eduardo B U Cavalcanti, Jonas Alex M Saute, Elmano Carvalho, Marcondes C França, Alberto R M Martinez, Monica de M M Navarro, Anamarli Nucci, Maria Bernadete D de Resende, Marcus Vinicius M Gonçalves, Juliana Gurgel-Giannetti, Rosana H Scola, Cláudia F da R Sobreira, Umbertina C Reed, Edmar Zanoteli
Significant advances in the understanding and management of Duchenne muscular dystrophy (DMD) took place since international guidelines were published in 2010. Our objective was to provide an evidence-based national consensus statement for multidisciplinary care of DMD in Brazil. A combination of the Delphi technique with a systematic review of studies from 2010 to 2016 was employed to classify evidence levels and grade of recommendations. Our recommendations were divided in two parts. We present Part 1 here, where we describe the guideline methodology and overall disease concepts, and also provide recommendations on diagnosis, steroid therapy and new drug treatment perspectives for DMD...
August 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28812930/increasing-colorectal-cancer-screening-at-an-urban-fqhc-using-ifobt-and-patient-navigation
#2
Richard L Martin, Madelaine Tully, Allison Kos, David Frazer, Amy Williamson, Amy Conlon, James J Enser, Noelle K LoConte
INTRODUCTION: Colorectal cancer is the second leading cause of cancer death in the United States. Black Americans suffer even higher incidence and death rates than the general population. Genetics and patient perceptions explain some of this difference, however, modifiable health care system factors such as lack of access to colon cancer screening also contribute. Partnering an academic health center with local community groups, we piloted a colorectal cancer screening program at a Federally Qualified Health Center (FQHC) serving predominately low socioeconomic status Black Americans...
September 2017: Health Promotion Practice
https://www.readbyqxmd.com/read/28812884/controlling-bdellovibrio-bacteriovorus-gene-expression-and-predation-using-synthetic-riboswitches
#3
Mohammed Dwidar, Yohei Yokobayashi
Bdellovibrio bacteriovorus is a predatory bacterium that feeds on Gram-negative bacteria including a wide range of pathogens and thus has potential applications as a biocontrol agent. Owing to its unique life cycle, however, there are limited tools that enable genetic manipulation of B. bacteriovorus. This work describes our first steps towards engineering the predatory bacterium for practical applications by developing basic genetic parts to control gene expression. Specifically, we evaluated four robust promoters that are active during the attack phase of B...
August 16, 2017: ACS Synthetic Biology
https://www.readbyqxmd.com/read/28812720/antagonistic-pleiotropy-and-mutation-accumulation-influence-human-senescence-and-disease
#4
Juan Antonio Rodríguez, Urko M Marigorta, David A Hughes, Nino Spataro, Elena Bosch, Arcadi Navarro
Senescence has long been a public health challenge as well as a fascinating evolutionary problem. There is neither a universally accepted theory for its ultimate causes, nor a consensus about what may be its impact on human health. Here we test the predictions of two evolutionary explanations of senescence-mutation accumulation and antagonistic pleiotropy-which postulate that genetic variants with harmful effects in old ages can be tolerated, or even favoured, by natural selection at early ages. Using data from genome-wide association studies (GWAS), we study the effects of genetic variants associated with diseases appearing at different periods in life, when they are expected to have different impacts on fitness...
January 30, 2017: Nature ecology & evolution
https://www.readbyqxmd.com/read/28812690/young-inversion-with-multiple-linked-qtls-under-selection-in-a-hybrid-zone
#5
Cheng-Ruei Lee, Baosheng Wang, Julius P Mojica, Terezie Mandáková, Kasavajhala V S K Prasad, Jose Luis Goicoechea, Nadeesha Perera, Uffe Hellsten, Hope N Hundley, Jenifer Johnson, Jane Grimwood, Kerrie Barry, Stephen Fairclough, Jerry W Jenkins, Yeisoo Yu, Dave Kudrna, Jianwei Zhang, Jayson Talag, Wolfgang Golser, Kathryn Ghattas, M Eric Schranz, Rod Wing, Martin A Lysak, Jeremy Schmutz, Daniel S Rokhsar, Thomas Mitchell-Olds
Fixed chromosomal inversions can reduce gene flow and promote speciation in two ways: by suppressing recombination and by carrying locally favoured alleles at multiple loci. However, it is unknown whether favoured mutations slowly accumulate on older inversions or if young inversions spread because they capture pre-existing adaptive quantitative trait loci (QTLs). By genetic mapping, chromosome painting and genome sequencing, we have identified a major inversion controlling ecologically important traits in Boechera stricta...
April 3, 2017: Nature ecology & evolution
https://www.readbyqxmd.com/read/28812605/experimental-test-and-refutation-of-a-classic-case-of-molecular-adaptation-in-drosophila-melanogaster
#6
Mohammad A Siddiq, David W Loehlin, Kristi L Montooth, Joseph W Thornton
Identifying the genetic basis for adaptive differences between species requires explicit tests of historical hypotheses concerning the effects of past changes in gene sequence on molecular function, organismal phenotype and fitness. We address this challenge by combining ancestral protein reconstruction with biochemical experiments and physiological analysis of transgenic animals that carry ancestral genes. We tested a widely held hypothesis of molecular adaptation-that changes in the alcohol dehydrogenase protein (ADH) along the lineage leading to Drosophila melanogaster increased the catalytic activity of the enzyme and thereby contributed to the ethanol tolerance and adaptation of the species to its ethanol-rich ecological niche...
January 13, 2017: Nature ecology & evolution
https://www.readbyqxmd.com/read/28812561/widespread-maintenance-of-genome-heterozygosity-in-schmidtea%C3%A2-mediterranea
#7
Longhua Guo, Shasha Zhang, Boris Rubinstein, Eric Ross, Alejandro Sánchez Alvarado
Loss of heterozygosity through inbreeding or mitotic errors leads to reductions in progeny survival and fertility. Loss of heterozygosity is particularly exacerbated in geographically isolated populations, which are prone to inbreeding depression and faster rates of extinction. The regenerative capacities of the hermaphroditic biotype of the planarian Schmidtea mediterranea allowed us to perform a systematic genetic test of Mendelian segregation and study the loss of heterozygosity in the Spiralian superclade in general and planarians in particular...
December 5, 2016: Nature ecology & evolution
https://www.readbyqxmd.com/read/28812529/approaches-to-evaluate-lung-inflammation-in-translational-research
#8
David K Meyerholz, Jessica C Sieren, Amanda P Beck, Heather A Flaherty
Inflammation is a common feature in several types of lung disease and is a frequent end point to validate lung disease models, evaluate genetic or environmental impact on disease severity, or test the efficacy of new therapies. Questions relevant to a study should be defined during experimental design and techniques selected to specifically address these scientific queries. In this review, the authors focus primarily on the breadth of techniques to evaluate lung inflammation that have both clinical and preclinical applications...
January 1, 2017: Veterinary Pathology
https://www.readbyqxmd.com/read/28812414/adipokine-genes-and-radiographic-hand-osteoarthritis-in-finnish-women-a-cross-sectional-study
#9
S Hämäläinen, S Solovieva, T Vehmas, A Hirvonen, P Leino-Arjas
OBJECTIVES: Available evidence suggests that genetic factors and overweight play major roles in the aetiology of osteoarthritis (OA). We analysed the association of 18 single-nucleotide polymorphisms (SNPs) from nine adipokine and adipokine receptor genes (LEP, LEPR, ADIPOQ, RETN, NAMPT, SERPINA12, ITLN1, RARRES2, and APLN) with radiographic hand OA. METHOD: The study design was cross-sectional. Bilateral hand radiographs of 542 occupationally active Finnish female dentists and teachers aged 45-63 years were examined and classified for the presence of hand OA using reference images...
August 16, 2017: Scandinavian Journal of Rheumatology
https://www.readbyqxmd.com/read/28812208/genetic-testing-in-inherited-heart-diseases-practical-considerations-for-clinicians
#10
REVIEW
Melanie Care, Vijay Chauhan, Danna Spears
PURPOSE OF REVIEW: Genetic testing has become an important element in the care of patients with inherited cardiac conditions (ICCs). The purpose of this review is to provide clinicians with insights into the utility of genetic testing as well as challenges associated with interpreting results. RECENT FINDINGS: Genetic testing may be indicated for individuals who are affected with or who have family histories of various ICCs. Various testing options are available and determining the most appropriate test for any given clinical scenario is key when interpreting results...
August 16, 2017: Current Cardiology Reports
https://www.readbyqxmd.com/read/28811895/long-term-rearrangement-of-retinal-structures-in-a-novel-mutation-of-x-linked-retinoschisis
#11
Stefano Piermarocchi, Stefania Miotto, Davide Colavito, Elda Del Giudice, Alberta Leon, Veronica Maritan, Rita Piermarocchi, Alma Patrizia Tormene
The aim of the present study was to report a novel mutation in the retinoschisin 1 (RS1) gene in a Caucasian family affected by X-linked juvenile retinoschisis (XLRS) and to describe the long-term modification of retinal structure. Two brothers with an early onset maculopathy were diagnosed with XLRS. Fundus photography, fluorescein angiography, spectral domain optical coherence tomography and electroretinogram analyses were performed. Their sister was also examined. All subjects were screened for mutations in the RS1 gene...
September 2017: Biomedical Reports
https://www.readbyqxmd.com/read/28811861/importance-of-distinguishing-between-mitochondrial-encephalomyopathy-with-elderly-onset-of-stroke-like-episodes-and-cerebral-infarction
#12
Syuichi Tetsuka, Asako Tagawa, Tomoko Ogawa, Mieko Otsuka, Ritsuo Hashimoto, Hiroyuki Kato
The most common disease-causing mitochondrial DNA (mtDNA) mutation in mitochondrial encephalomyopathy (ME) with lactic acidosis and stroke-like episodes (MELAS) is m.3243A>G. In the future, the incidence of patients with cerebral infarction and diabetes mellitus is expected to increase tremendously. Additionally, the A3243G mutation typical of diabetes is estimated to be present in approximately 2% of all diabetes patients, which suggests that the potential disease population with a mitochondrial disorder is greater than previously thought, and there may have been many cases among the elderly that were misdiagnosed...
September 2017: Journal of Clinical Medicine Research
https://www.readbyqxmd.com/read/28811740/multiple-testing-in-the-context-of-gene-discovery-in-sickle-cell-disease-using-genome-wide-association-studies
#13
Kevin H M Kuo
The issue of multiple testing, also termed multiplicity, is ubiquitous in studies where multiple hypotheses are tested simultaneously. Genome-wide association study (GWAS), a type of genetic association study that has gained popularity in the past decade, is most susceptible to the issue of multiple testing. Different methodologies have been employed to address the issue of multiple testing in GWAS. The purpose of the review is to examine the methodologies employed in dealing with multiple testing in the context of gene discovery using GWAS in sickle cell disease complications...
2017: Genomics Insights
https://www.readbyqxmd.com/read/28811712/association-between-cyp24a1-polymorphisms-and-the-risk-of-colonic-polyps-and-colon-cancer-in-a-chinese-population
#14
Xue-Qi Chen, Jia-Yu Mao, Wen-Bin Li, Jian Li, Hong Yang, Jia-Ming Qian, Jing-Nan Li
AIM: To determine the pathogenesis and potential single nucleotide polymorphisms (SNPs) as screening sites for colonic polyps, colon cancer and ulcerative colitis, and to analyze the possible association between these genetic polymorphisms and the three diseases. METHODS: We evaluated genetic polymorphisms in 144 newly diagnosed colonic polyp patients, 96 colon cancer patients and 44 ulcerative colitis patients. The four SNPs genotyped were rs4809957, rs6068816, rs6091822 and rs8124792...
July 28, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/28811643/overexpressed-somatic-alleles-are-enriched-in-functional-elements-in-breast-cancer
#15
Paula Restrepo, Mercedeh Movassagh, Nawaf Alomran, Christian Miller, Muzi Li, Chris Trenkov, Yulian Manchev, Sonali Bahl, Stephanie Warnken, Liam Spurr, Tatiyana Apanasovich, Keith Crandall, Nathan Edwards, Anelia Horvath
Asymmetric allele content in the transcriptome can be indicative of functional and selective features of the underlying genetic variants. Yet, imbalanced alleles, especially from diploid genome regions, are poorly explored in cancer. Here we systematically quantify and integrate the variant allele fraction from corresponding RNA and DNA sequence data from patients with breast cancer acquired through The Cancer Genome Atlas (TCGA). We test for correlation between allele prevalence and functionality in known cancer-implicated genes from the Cancer Gene Census (CGC)...
August 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28811335/the-conserved-and-unique-genetic-architecture-of-kernel-size-and-weight-in-maize-and-rice
#16
Jie Liu, Juan Huang, Huan Guo, Liu Lan, Hongze Wang, Yuancheng Xu, Xiaohong Yang, Wenqiang Li, Hao Tong, Yingjie Xiao, Qingchun Pan, Feng Qiao, Mohammad Sharif Raihan, Haijun Liu, Xuehai Zhang, Ning Yang, Xiaqing Wang, Min Deng, Minliang Jin, Lijun Zhao, Xin Luo, Yang Zhou, Xiang Li, Wei Zhan, Nannan Liu, Hong Wang, Gengshen Chen, Qing Li, Jianbing Yan
Maize is a major staple crop. Maize kernel size and weight are important contributors to its yield. Here, we measured kernel length, kernel width, kernel thickness, hundred kernel weight and kernel test weight in 10 recombinant inbred line populations and dissected their genetic architecture using three statistical models. In total, 729 quantitative trait loci (QTLs) were identified, many of which were identified in all three models, including 22 major QTLs that each can explain more than 10% of phenotypic variation...
August 15, 2017: Plant Physiology
https://www.readbyqxmd.com/read/28811306/replication-and-validation-of-genetic-polymorphisms-associated-with-survival-after-allogeneic-blood-or-marrow-transplant
#17
Ezgi Karaesmen, Abbas A Rizvi, Leah Preus, Philip L McCarthy, Marcelo C Pasquini, Kenan Onel, Xiaochun Zhu, Stephen Spellman, Christopher A Haiman, Daniel O Stram, Loreall Pooler, Xin Sheng, Qianqian Zhu, Li Yan, Qian Liu, Qiang Hu, Amy Webb, Guy Brock, Alyssa I Clay-Gilmour, Sebastiano Battaglia, David Tritchler, Song Liu, Theresa Hahn, Lara E Sucheston-Campbell
Multiple candidate gene association studies of non-HLA single nucleotide polymorphisms (SNPs) and outcomes after blood or marrow transplant (BMT) have been conducted. We identified 70 publications reporting 45 SNPs in 36 genes significantly associated with disease-related mortality, progression-free survival, transplant-related mortality and/or overall survival after BMT. Replication and validation of these SNP associations were performed using DISCOVeRY-BMT, a well-powered genome-wide association study consisting of two cohorts, totaling 2,883 BMT recipients with AML, ALL or MDS and their HLA-matched unrelated donors, treated from 2000-2011 and reported to the CIBMTR...
August 15, 2017: Blood
https://www.readbyqxmd.com/read/28811299/twenty-years-of-menin-emerging-opportunities-for-restoration-of-transcription-in-men1
#18
Koen M A Dreijerink, Marc Timmers, Myles Brown
Since the discovery of the multiple endocrine neoplasia type 1 (MEN1) gene in 1997, elucidation of the molecular function of its protein product, menin, has been a challenge. Biochemical, proteomics, genetics and genomics approaches have identified various potential roles, which converge on gene expression regulation. The most consistent findings show that menin connects transcription factors and chromatin modifying enzymes, in particular the histone H3K4 methyltransferase complexes MLL1 and MLL2. Chromatin immunoprecipitation combined with next generation sequencing has enabled studying genome-wide dynamics of chromatin binding by menin...
August 15, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28811180/development-of-an-opioid-self-administration-assay-to-study-drug-seeking-in-zebrafish
#19
Gabriel D Bossé, Randall T Peterson
The zebrafish (Danio rerio) has become an excellent tool to study mental health disorders, due to its physiological and genetic similarity to humans, ease of genetic manipulation, and feasibility of small molecule screening. Zebrafish have been shown to exhibit characteristics of addiction to drugs of abuse in non-contingent assays, including conditioned place preference, but contingent assays have been limited to a single assay for alcohol consumption. Using inexpensive electronic, mechanical, and optical components, we developed an automated opioid self-administration assay for zebrafish, enabling us to measure drug seeking and gain insight into the underlying biological pathways...
August 12, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28810700/a-single-mini-barcode-test-to-screen-for-australian-mammalian-predators-from-environmental-samples
#20
Elodie Modave, Anna J MacDonald, Stephen D Sarre
Identification of species from trace samples is now possible through the comparison of diagnostic DNA fragments against reference DNA sequence databases. DNA detection of animals from non-invasive samples, such as predator faeces (scats) that contain traces of DNA from their species of origin, has proved to be a valuable tool for the management of elusive wildlife. However, application of this approach can be limited by the availability of appropriate genetic markers. Scat DNA is often degraded, meaning that longer DNA sequences, including standard DNA barcoding markers, are difficult to recover...
August 1, 2017: GigaScience
keyword
keyword
9720
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"