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https://www.readbyqxmd.com/read/28329659/predicting-the-risk-of-metachronous-basal-cell-carcinomas
#1
Hilde Smedinga, Joris A C Verkouteren, Ewout W Steyerberg, Albert Hofman, Tamar Nijsten, Y Vergouwe
A third of basal cell carcinoma (BCC) patients will develop metachronous BCCs, but information is limited on the frequency, timing and predictors of these subsequent BCCs. We aimed to develop a prediction model to assess the absolute risk of metachronous BCCs.We observed 14,628 participants of northwestern European ancestry from a prospective population- based cohort study (Rotterdam Study). BCCs were identified using a linkage with the Dutch Pathology Registry (PALGA). Predictors for subsequent BCCs included 14 patient, lifestyle, and tumor-specific characteristics...
September 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28329632/cigarette-smoking-and-the-risks-of-incident-basal-cell-carcinoma-and-squamous-cell-carcinoma-in-a-large-population-based-cohort-study
#2
Jean Claude Dusingize, Catherine M Olsen, Nirmala Pandeya, Bridie Thompson, Rachel E Neale, Padmini Subramaniam, David C Whiteman, Adele C Green
Tobacco smoking is a strong risk factor for cancer, but associations with basal cell carcinomas (BCC) and squamous cell carcinomas (SCC) of the skin have been inconsistent. We prospectively investigated the associations between cigarette smoking and 3-year incidence of first primary BCC or SCC in the QSkin cohort (n=43765). Smoking history was self-reported at baseline; newly diagnosed and surgically treated BCCs and SCCs were ascertained through linkage to the national health insurance scheme and verified by histopathology reports...
September 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28329545/darier-white-disease
#3
Mitalee P Christman, Evan Reider, Randie H Kim, Nooshin Brinster, Elisa Femia, Miriam Keltz Pomeranz
We present a 58-year-old woman with bipolardisorder and with a longstanding history of yellowbrown,hyperkeratotic papules in a seborrheicdistribution and nail changes. Her father andpaternal grandmother had similar eruptions and alsohad psychiatric disease. Histopathologic examinationshowed acantholysis and dyskeratosis, which wasconsistent with Darier-White disease. Darier-Whitedisease is a rare, hereditary disorder that is inheritedin an autosomal dominant manner and that usuallypresents in adolescence or early adulthood dueto mutations in the SERCA2 calcium pump...
December 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28325831/landscape-genomic-insights-into-the-historic-migration-of-mountain-hemlock-in-response-to-holocene-climate-change
#4
Jeremy S Johnson, Keith D Gaddis, David M Cairns, Kranti Konganti, Konstantin V Krutovsky
PREMISE OF THE STUDY: Untangling alternative historic dispersal pathways in long-lived tree species is critical to better understand how temperate tree species may respond to climatic change. However, disentangling these alternative pathways is often difficult. Emerging genomic technologies and landscape genetics techniques improve our ability to assess these pathways in natural systems. We address the question to what degree have microrefugial patches and long-distance dispersal been responsible for the colonization of mountain hemlock (Tsuga mertensiana) on the Alaskan Kenai Peninsula...
March 21, 2017: American Journal of Botany
https://www.readbyqxmd.com/read/28325372/is-predominant-clonal-evolution-a-common-evolutionary-adaptation-to-parasitism-in-pathogenic-parasitic-protozoa-fungi-bacteria-and-viruses
#5
M Tibayrenc, F J Ayala
We propose that predominant clonal evolution (PCE) in microbial pathogens be defined as restrained recombination on an evolutionary scale, with genetic exchange scarce enough to not break the prevalent pattern of clonal population structure. The main features of PCE are (1) strong linkage disequilibrium, (2) the widespread occurrence of stable genetic clusters blurred by occasional bouts of genetic exchange ('near-clades'), (3) the existence of a "clonality threshold", beyond which recombination is efficiently countered by PCE, and near-clades irreversibly diverge...
2017: Advances in Parasitology
https://www.readbyqxmd.com/read/28324627/hospitalized-opioid-dependent-patients-exploring-predictors-of-buprenorphine-treatment-entry-and-retention-after-discharge
#6
Christina S Lee, Jane M Liebschutz, Bradley J Anderson, Michael D Stein
OBJECTIVES: Few studies have explored predictors of entry into and retention in buprenorphine treatment following linkage from an acute medical hospitalization. METHODS: This secondary analysis of a completed clinical trial focuses on medically hospitalized, opioid-dependent patients (n = 72) who were randomized to an intervention including buprenorphine induction and dose stabilization during hospitalization followed by post-discharge transition to office-based buprenorphine treatment (OBOT)...
March 21, 2017: American Journal on Addictions
https://www.readbyqxmd.com/read/28324114/novel-25-kb-deletion-of-mertk-causes-retinitis-pigmentosa-with-severe-progression
#7
Daniel R Evans, Jane S Green, Gordon J Johnson, Jeremy Schwartzentruber, Jacek Majewski, Chandree L Beaulieu, Wen Qin, Christian R Marshall, Tara A Paton, Nicole M Roslin, Andrew D Paterson, Somayyeh Fahiminiya, Justin French, Kym M Boycott, Michael O Woods
Purpose: Retinitis pigmentosa (RP) describes a complex group of inherited retinal dystrophies with almost 300 reported genes and loci. We investigated the genetic etiology of autosomal recessive RP (arRP) in a large kindred with 5 affected family members, who reside on the island of Newfoundland, Canada. Methods: Genetic linkage analysis was performed on 12 family members (Infinium HumanOmni2.5-8 BeadChip). Whole exome sequencing analysis (Illumina HiSeq) was performed on one affected individual...
March 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28324015/paternally-inherited-dlk1-deletion-associated-with-familial-central-precocious-puberty
#8
Andrew Dauber, Marina Cunha-Silva, Delanie B Macedo, Vinicius N Brito, Ana Paula Abreu, Stephanie A Roberts, Luciana R Montenegro, Melissa Andrew, Andrew Kirby, Matthew T Weirauch, Guillaume Labilloy, Danielle S Bessa, Rona S Carroll, Dakota C Jacobs, Patrick E Chappell, Berenice B Mendonca, David Haig, Ursula B Kaiser, Ana Claudia Latronico
Context: Central precocious puberty (CPP) results from premature activation of the hypothalamic-pituitary-gonadal axis. Few genetic causes of CPP have been identified with the most common being mutations in the paternally expressed imprinted gene MKRN3. Objective: To identify the genetic etiology of CPP in a large multigenerational family. Design: Linkage analysis followed by whole genome sequencing was performed in a family with 5 female members with nonsyndromic CPP...
January 27, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323998/genes-outside-the-major-histocompatibility-complex-mhc-locus-are-linked-to-the-development-of-thyroid-autoantibodies-and-thyroiditis-in-nod-h2h4-mice
#9
Sandra M McLachlan, Sylvie Lesage, Roxanne Collin, Bianca Banuelos, Holly A Aliesky, Basil Rapoport
Thyroiditis and autoantibodies to thyroglobulin (TgAb) and thyroid peroxidase (TPOAb) develop spontaneously in NOD.H2h4 mice, a phenotype enhanced by dietary iodine. NOD.H2h4 mice were derived by introducing the Major Histocompatibility Class (MHC) molecule I-Ak from B10.A(4R) mice to non-obese diabetic (NOD) mice. Apart from I-Ak, the genes responsible for the NOD.H2h4 phenotype are unknown. Extending serendipitous observations from crossing BALB/c to NOD.H2h4 mice, thyroid autoimmunity was investigated in both genders of the F1, F2 and the second generation backcross of F1 to NOD...
January 17, 2017: Endocrinology
https://www.readbyqxmd.com/read/28323906/flt-1-gene-polymorphisms-and-protein-expression-profile-in-rheumatoid-arthritis
#10
Agnieszka Paradowska-Gorycka, Anna Sowinska, Andrzej Pawlik, Damian Malinowski, Barbara Stypinska, Ewa Haladyj, Katarzyna Romanowska-Prochnicka, Marzena Olesinska
OBJECTIVES: Inflammation and angiogenesis are a significant element of pathogenesis in rheumatoid arthritis (RA). The FLT-1- triggering factor for production of proinflammatory cytokines-might contributes to inflammation in patients with RA. Association of the FLT-1 polymorphisms with different "angiogenic diseases" suggests that it may be a novel genetic risk factor also for RA. The aim of the study was to identify FLT-1 genetic variants and their possible association with sFLT-1 levels, susceptibility to and severity of RA...
2017: PloS One
https://www.readbyqxmd.com/read/28322246/genetic-correlation-between-amyotrophic-lateral-sclerosis-and-schizophrenia
#11
Russell L McLaughlin, Dick Schijven, Wouter van Rheenen, Kristel R van Eijk, Margaret O'Brien, René S Kahn, Roel A Ophoff, An Goris, Daniel G Bradley, Ammar Al-Chalabi, Leonard H van den Berg, Jurjen J Luykx, Orla Hardiman, Jan H Veldink
We have previously shown higher-than-expected rates of schizophrenia in relatives of patients with amyotrophic lateral sclerosis (ALS), suggesting an aetiological relationship between the diseases. Here, we investigate the genetic relationship between ALS and schizophrenia using genome-wide association study data from over 100,000 unique individuals. Using linkage disequilibrium score regression, we estimate the genetic correlation between ALS and schizophrenia to be 14.3% (7.05-21.6; P=1 × 10(-4)) with schizophrenia polygenic risk scores explaining up to 0...
March 21, 2017: Nature Communications
https://www.readbyqxmd.com/read/28319463/solid-cancer-incidence-among-the-life-span-study-of-atomic-bomb-survivors-1958-2009
#12
Eric J Grant, Alina Brenner, Hiromi Sugiyama, Ritsu Sakata, Atsuko Sadakane, Mai Utada, Elizabeth K Cahoon, Caitlin M Milder, Midori Soda, Harry M Cullings, Dale L Preston, Kiyohiko Mabuchi, Kotaro Ozasa
This is the third analysis of solid cancer incidence among the Life Span Study (LSS) cohort of atomic bomb survivors in Hiroshima and Nagasaki, adding eleven years of follow-up data since the previously reported analysis. For this analysis, several changes and improvements were implemented, including updated dose estimates (DS02R1) and adjustment for smoking. Here, we focus on all solid cancers in aggregate. The eligible cohort included 105,444 subjects who were alive and had no known history of cancer at the start of follow-up...
March 20, 2017: Radiation Research
https://www.readbyqxmd.com/read/28318769/impact-of-meningococcal-c-conjugate-vaccination-four-years-after-introduction-of-routine-childhood-immunization-in-brazil
#13
Ana Lucia Andrade, Ruth Minamisava, Lisia Moura Tomich, Ana Paula Lemos, Maria Cecilia Gorla, Maria Cristina de Cunto Brandileone, Carla Madga S Domingues, Camile de Moraes, Gabriela Policena, Ana Luiza Bierrenbach
BACKGROUND: Routine infant immunization with meningococcal C conjugate (MCC) vaccination started in Brazil in November 2010, scheduled at three and five months plus a booster at 12-15months of age. No catch-up was implemented. We assessed the impact of vaccination on meningococcal C disease (MenC) four years after vaccination start in the National Immunization Program. METHODS: We performed an ecological quasi-experimental design from 2008 to 2014 using a deterministic linkage between the National Notification and the National Reference Laboratory databases for meningitis...
March 15, 2017: Vaccine
https://www.readbyqxmd.com/read/28315947/impact-of-18-f-fdg-pet-ct-on-surgical-management-in-patients-with-advanced-melanoma-an-outcome-based-analysis
#14
Andrea Forschner, Susann-Cathrin Olthof, Brigitte Gückel, Peter Martus, Werner Vach, Christian la Fougère, Konstantin Nikolaou, Ulrike Keim, Thomas Kurt Eigentler, Claus Garbe, Christina Pfannenberg
PURPOSE: To evaluate the influence of (18)F-FDG-PET/CT on clinical decision making and outcome in advanced melanoma patients planned for radical metastasectomy. METHODS AND MATERIALS: A cohort of 333 patients with mainly stage III/IV melanoma having a PET/CT for clinical reasons was prospectively enrolled in our oncologic PET/CT registry between 2013 and 2015. Referring physicians completed questionnaires regarding their intended management for each patient before and after PET/CT...
March 18, 2017: European Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/28315742/association-of-nitric-oxide-synthase2-gene-polymorphisms-with-leprosy-reactions-in-northern-indian-population
#15
Amit Dubey, Sanjay Kumar Biswas, Ekata Sinha, Joy Kumar Chakma, Raj Kamal, Mamta Arora, Harish Sagar, Mohan Natarajan, Sameer S Bhagyawant, Keshar Kunja Mohanty
The pathogen Mycobacterium leprae causes leprosy that affects mainly skin and nerves. Polymorphisms of certain genes are substantiated to be associated with the susceptibility/resistance to leprosy. The present investigation addressed the association of Nitric Oxide Synthase2 gene polymorphisms and leprosy in a population from northern part of India. A total of 323 leprosy cases and 288 healthy controls were genotyped for four NOS2 promoter variants (rs1800482, rs2779249, rs8078340 and rs2301369) using FRET technology in Real Time PCR...
March 15, 2017: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/28304396/associations-between-genetic-variants-in-mrna-splicing-related-genes-and-risk-of-lung-cancer-a-pathway-based-analysis-from-published-gwass
#16
Yongchu Pan, Hongliang Liu, Yanru Wang, Xiaozheng Kang, Zhensheng Liu, Kouros Owzar, Younghun Han, Li Su, Yongyue Wei, Rayjean J Hung, Yonathan Brhane, John McLaughlin, Paul Brennan, Heike Bickeböller, Albert Rosenberger, Richard S Houlston, Neil Caporaso, Maria Teresa Landi, Joachim Heinrich, Angela Risch, Xifeng Wu, Yuanqing Ye, David C Christiani, Christopher I Amos, Qingyi Wei
mRNA splicing is an important mechanism to regulate mRNA expression. Abnormal regulation of this process may lead to lung cancer. Here, we investigated the associations of 11,966 single-nucleotide polymorphisms (SNPs) in 206 mRNA splicing-related genes with lung cancer risk by using the summary data from six published genome-wide association studies (GWASs) of Transdisciplinary Research in Cancer of the Lung (TRICL) (12,160 cases and 16,838 controls) and another two lung cancer GWASs of Harvard University (984 cases and 970 controls) and deCODE (1,319 cases and 26,380 controls)...
March 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28304155/gas-phase-hydrogen-deuterium-exchange-for-distinguishing-isomeric-carbohydrate-ions
#17
Sanjit S Uppal, Sarah E Beasley, Michele Scian, Miklos Guttman
The structural diversity of carbohydrates presents a major challenge for glycobiology and the analysis of glycoconjugates. Mass spectrometry has become a primary tool for glycan analysis thanks to its speed and sensitivity, but the information content regarding the glycan structure of protonated glycoconjugates is hindered by the inability to differentiate linkage and stereoisomers. Here we examine a variety of protonated carbohydrate structures by gas-phase hydrogen/deuterium exchange (HDX) to discover that the exchange rates are distinct for isomeric carbohydrates with even subtle structural differences...
March 17, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/28303597/a-scaling-approach-to-record-linkage
#18
Harvey Goldstein, Katie Harron, Mario Cortina-Borja
With increasing availability of large datasets derived from administrative and other sources, there is an increasing demand for the successful linking of these to provide rich sources of data for further analysis. Variation in the quality of identifiers used to carry out linkage means that existing approaches are often based upon 'probabilistic' models, which are based on a number of assumptions, and can make heavy computational demands. In this paper, we suggest a new approach to classifying record pairs in linkage, based upon weights (scores) derived using a scaling algorithm...
March 16, 2017: Statistics in Medicine
https://www.readbyqxmd.com/read/28303144/the-cytochrome-p450-gene-cscyp85a1-is-a-putative-candidate-for-super-compact-1-scp-1-plant-architecture-mutation-in-cucumber-cucumis-sativus-l
#19
Hui Wang, Wanqing Li, Yaguang Qin, Yupeng Pan, Xiaofeng Wang, Yiqun Weng, Peng Chen, Yuhong Li
The dwarf or compact plant architecture is an important trait in plant breeding. A number of genes controlling plant height have been cloned and functionally characterized which often involve in biosynthesis or signaling of plant hormones such as brassinosteroids (BRs). No genes for plant height or vine length have been cloned in cucurbit crops (family Cucurbitaceae). From an EMS-induced mutagenesis population, we identified a super compact (SCP) mutant C257 which was extremely dwarf due to practically no internode elongation...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28302637/protocol-for-determining-primary-healthcare-practice-characteristics-models-of-practice-and-patient-accessibility-using-an-exploratory-census-survey-with-linkage-to-administrative-data-in-nova-scotia-canada
#20
Emily Gard Marshall, Richard J Gibson, Beverley Lawson, Frederick Burge
INTRODUCTION: There is little evidence on how primary care providers (PCPs) model their practices in Nova Scotia (NS), Canada, what services they offer or what accessibility is like for the average patient. This study will create a database of all family physicians and primary healthcare nurse practitioners in NS, including information about accessibility and the model of care in which they practice, and will link the survey data to administrative health databases. METHODS AND ANALYSIS: 3 census surveys of all family physicians, primary care nurse practitioners (ie, PCPs) and their practices in NS will be conducted...
March 16, 2017: BMJ Open
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