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Medical genomics

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https://www.readbyqxmd.com/read/29141311/-study-on-mosaicism-of-scn1a-gene-mutation-in-parents-of-children-with-dravet-syndrome
#1
A J Liu, X X Yang, X J Xu, Q X Wu, X J Tian, X L Yang, X R Wu, L P Wei, Y H Zhang
Objective: To investigate the clinical phenotypes and the mutant allele proportion of parents with SCN1A gene mutation mosaicism of Dravet syndrome (DS) children, thus to provide guidance for family reproduction and prenatal diagnosis. Method: The clinical data and peripheral blood DNA samples of DS patients with a SCN1A gene mutation proved by Sanger sequencing were collected prospectively from February 2005 to November 2016 in Department of Pediatrics, Peking University First Hospital. The same mutation was searched in parents and other available relatives...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29141279/efficacy-of-stiripentol-in-dravet-syndrome-with-or-without-scn1a-mutations
#2
Min Jung Cho, Soon Sung Kwon, Ara Ko, Seung Tae Lee, Young Mock Lee, Heung Dong Kim, Hee Jung Chung, Se Hee Kim, Joon Soo Lee, Dae Sung Kim, Hoon Chul Kang
BACKGROUND AND PURPOSE: The aim of this study was to determine the effectiveness of stiripentol (STP) add-on therapy to valproate and clobazam in patients with Dravet syndrome (DS) according to the presence of mutations in the sodium channel alpha-1 subunit gene (SCN1A). METHODS: We performed direct sequencing to analyze SCN1A mutations in 32 patients with clinically confirmed with DS, and classified them into mutation (pathogenic or likely pathogenic) and nonmutation groups based on American College of Medical Genetics and Genomics guidelines...
October 31, 2017: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/29140430/the-european-society-for-medical-oncology-esmo-precision-medicine-glossary
#3
L R Yates, J Seoane, C Le Tourneau, L L Siu, R Marais, S Michiels, J C Soria, P Campbell, N Normanno, A Scarpa, J S Reis-Filho, J Rodon, C Swanton, F Andre
Background: Precision medicine is rapidly evolving within the field of oncology and has brought many new concepts and terminologies that are often poorly defined when first introduced, which may subsequently lead to miscommunication within the oncology community. The European Society for Medical Oncology (ESMO) recognises these challenges and is committed to support the adoption of precision medicine in oncology. To add clarity to the language used by oncologists and basic scientists within the context of precision medicine, the ESMO Translational Research and Personalised Medicine Working Group has developed a standardised glossary of relevant terms...
November 13, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/29140263/access-to-guideline-recommended-pharmacogenomic-tests-for-cancer-treatments-experience-of-providers-and-patients
#4
Ann Chen Wu, Kathleen M Mazor, Rachel Ceccarelli, Stephanie Loomer, Christine Y Lu
Genomic tests are the fastest growing sector in medicine and medical science, yet there remains a dearth of research on access to pharmacogenomic tests and medications. The objective of this study is to explore providers' and patients' experiences and views on test access as well as strategies used for gaining access. We interviewed clinicians who prescribed medications that should be guided by pharmacogenomic testing and patients who received those prescriptions. We organized the themes into the four dimensions suggested by the World Health Organization framework on access to medications and health technologies...
November 15, 2017: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/29138367/-the-framework-of-the-amended-cancer-control-act
#5
Shinsuke Amano
The Cancer Control Act approved in 2006 was amended in December 2016 by the nonpartisan federation of the National Assembly, while meeting the requests from cancer patient groups. In the chapter on the basic ideas, it is said that cancer control needs to advance the development ofthe social environment that enables cancer patients to run a smooth social life and employment support for cancer patients and promotion of cancer education are newly stated. In the chapter on the basic measures, palliative care, rehabilitation, the research on rare cancer and intractable cancer, the treatment ofchildhood cancer patients and the improvement of educational environment for those patients, and the support for private organizations and cancer patient groups are newly stated...
November 2017: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/29134551/the-dangers-of-direct-to-consumer-genetic%C3%A2-testing%C3%A2-for-alzheimer-s-disease-comment-on-personal-genomic-testing-genetic-inheritance-and-uncertainty
#6
Paul Lacaze, Jane Tiller, Joanne Ryan
The overarching issue with this case study is poor regulation and quality control over direct-to-consumer genetic testing, delivered in the absence of any medical oversight.
November 13, 2017: Journal of Bioethical Inquiry
https://www.readbyqxmd.com/read/29132935/risk-factors-and-outcomes-of-candidemia-caused-by-candida-parapsilosis-complex-in-a-medical-center-in-northern-taiwan
#7
Yen-Mu Wu, Po-Yen Huang, Jang-Jih Lu, Shian-Sen Shie, Jung-Jr Ye, Ting-Shu Wu, Ching-Tai Huang
To investigate the risk factors and outcomes associated with Candida parapsilosis candidemia, a retrospective study was conducted at a tertiary medical center in northern Taiwan. Patients with C. parapsilosis candidemia and corresponding controls with C. albicans candidemia were chosen and their demographics, comorbidities, risk factors, and clinical outcomes were reviewed. Antifungal susceptibility tests were performed using the Sensititre YeastOne colorimetric system. Matrix-assisted laser desorption ionization-time of flight mass spectrometry was used to classify the genomic species...
October 6, 2017: Diagnostic Microbiology and Infectious Disease
https://www.readbyqxmd.com/read/29132689/raw-genomic-data-storage-access-and-sharing
#8
Mahsa Shabani, Danya Vears, Pascal Borry
Patients are increasingly being encouraged and supported to access and control their own medical and genomic data. We argue that well-established and transparent raw genomic data retention and returning policies are imperative to enable patients to practice their rights to access and control raw data.
November 10, 2017: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/29132146/identification-of-unique-neoantigen-qualities-in-long-term-survivors-of-pancreatic-cancer
#9
Vinod P Balachandran, Marta Łuksza, Julia N Zhao, Vladimir Makarov, John Alec Moral, Romain Remark, Brian Herbst, Gokce Askan, Umesh Bhanot, Yasin Senbabaoglu, Daniel K Wells, Charles Ian Ormsby Cary, Olivera Grbovic-Huezo, Marc Attiyeh, Benjamin Medina, Jennifer Zhang, Jennifer Loo, Joseph Saglimbeni, Mohsen Abu-Akeel, Roberta Zappasodi, Nadeem Riaz, Martin Smoragiewicz, Z Larkin Kelley, Olca Basturk, Mithat Gönen, Arnold J Levine, Peter J Allen, Douglas T Fearon, Miriam Merad, Sacha Gnjatic, Christine A Iacobuzio-Donahue, Jedd D Wolchok, Ronald P DeMatteo, Timothy A Chan, Benjamin D Greenbaum, Taha Merghoub, Steven D Leach
Pancreatic ductal adenocarcinoma is a lethal cancer with fewer than 7% of patients surviving past 5 years. T-cell immunity has been linked to the exceptional outcome of the few long-term survivors, yet the relevant antigens remain unknown. Here we use genetic, immunohistochemical and transcriptional immunoprofiling, computational biophysics, and functional assays to identify T-cell antigens in long-term survivors of pancreatic cancer. Using whole-exome sequencing and in silico neoantigen prediction, we found that tumours with both the highest neoantigen number and the most abundant CD8(+) T-cell infiltrates, but neither alone, stratified patients with the longest survival...
November 8, 2017: Nature
https://www.readbyqxmd.com/read/29131714/understanding-variations-in-secondary-findings-reporting-practices-across-u-s-genome-sequencing-laboratories
#10
Sara Ackerman, Barbara Koenig
BACKGROUND: Increasingly used for clinical purposes, genome and exome sequencing can generate clinically relevant information that is not directly related to the reason for testing (incidental or secondary findings). Debates about the ethical implications of secondary findings were sparked by the American College of Medical Genetics (ACMG)'s 2013 policy statement, which recommended that laboratories report pathogenic alterations in 56 genes. Although wide variation in laboratories' secondary findings policies has been reported, little is known about its causes...
November 13, 2017: AJOB Empirical Bioethics
https://www.readbyqxmd.com/read/29130793/from-genomes-to-diaries-a-3-year-prospective-real-life-study-of-ragweed-specific-sublingual-immunotherapy
#11
Viktor Molnár, Adrienne Nagy, Lilla Tamási, Gabriella Gálffy, Renáta Böcskei, András Bikov, Ibolya Czaller, Zsuzsanna Csoma, Magdolna Krasznai, Csilla Csáki, Györgyi Zsigmond, Zoltán Csontos, Anikó Kurucz, Edina Kurucz, Beáta Fábos, Bálint L Bálint, Mária Sasvári-Székely, Anna Székely, Eszter Kótyuk, Gergely T Kozma, Gábor Cserta, Anita Farkas, Zsófia Gál, András Gézsi, András Millinghoffer, Péter Antal, Csaba Szalai
During the last decades, the prevalence of allergy has dramatically increased. Allergen-specific immunotherapy is the only currently available medical intervention that has the potential to affect the natural course of the disease, but there are still many questions and unmet needs hindering its widespread use to fulfill its treatment potential and maximize its benefits for the society. To provide a comprehensive phenome-wide overview in sublingual immunotherapy, using ragweed allergy as a target, we planned and carried out a longitudinal, prospective, observational, open-label study (DesensIT)...
November 2017: Immunotherapy
https://www.readbyqxmd.com/read/29128982/actionable-secondary-findings-from-whole-genome-sequencing-of-954-east-asians
#12
Clara Sze-Man Tang, Saloni Dattani, Man-Ting So, Stacey S Cherny, Paul K H Tam, Pak C Sham, Maria-Mercè Garcia-Barcelo
Recently, the American College of Medical Genetics (ACMG) recommended the return of actionable secondary findings detected from clinical sequencing. The reported frequency of secondary findings in Asian populations were highly variable and it is unclear whether the uniformity in coverage offered by whole-genome sequencing (WGS) may impact the estimate. In this analysis, we aimed to refine the rate of secondary findings on East Asians through a large-scale WGS study. We classified 1256 protein-altering or splicing variants of the 59 actionable genes detected from WGS of 954 East Asians in strict accordance with the ACMG and the Association for Molecular Pathology guidelines...
November 11, 2017: Human Genetics
https://www.readbyqxmd.com/read/29128868/association-of-lpa-variants-with-aortic-stenosis-a-large-scale-study-using-diagnostic-and-procedural-codes-from-electronic-health-records
#13
Hao Yu Chen, Line Dufresne, Hannah Burr, Athithan Ambikkumar, Niko Yasui, Kevin Luk, Dilrini K Ranatunga, Rachel A Whitmer, Mark Lathrop, James C Engert, George Thanassoulis
Importance: Elevated lipoprotein(a) levels are a risk factor for aortic stenosis (AS). However, a large-scale replication of associations between LPA variants and AS, their interactions with risk factors, and the effect of multiple risk alleles is not well established. Objective: To replicate the association between LPA variants with AS and identify subgroups who are at higher risk of developing AS. Design, Setting, and Participants: This case-control study of AS included 44 703 individuals (3469 cases) 55 years or older who were enrolled in the Genetic Epidemiology Research on Aging cohort and who were members of the Kaiser Permanente Northern California health care delivery system...
November 12, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/29128642/the-evolution-of-metabolic-regulation-in-animals
#14
Frank Seebacher
Energy metabolism is determined by a suite of regulatory mechanism, and their increasing complexity over evolutionary time provides the key to understanding the emergence of different metabolic phenotypes. Energy metabolism is at the core of biological processes because all organisms must maintain energy balance against thermodynamic gradients. Energy metabolism is regulated by a bewildering array of interacting molecular mechanisms, and much of what is known about metabolic regulation comes from the medical literature...
November 8, 2017: Comparative Biochemistry and Physiology. Part B, Biochemistry & Molecular Biology
https://www.readbyqxmd.com/read/29128582/budget-impact-analysis-of-gene-expression-tests-to-aid-therapy-decisions-for-breast-cancer-patients-in-germany
#15
M P Lux, N Nabieva, T Hildebrandt, H Rebscher, S Kümmel, J-U Blohmer, M G Schrauder
OBJECTIVES: Many women with early-stage, hormone receptor-positive breast cancer may not benefit from adjuvant chemotherapy. Gene expression tests can reduce chemotherapy over- and undertreatment by providing prognostic information on the likelihood of recurrence and, with Oncotype DX, predictive information on chemotherapy benefit. These tests are currently not reimbursed by German healthcare payers. An analysis was conducted to evaluate the budget impact of gene expression tests in Germany...
November 9, 2017: Breast: Official Journal of the European Society of Mastology
https://www.readbyqxmd.com/read/29128227/genome-wide-association-study-for-ketosis-in-us-jerseys-using-producer-recorded-data
#16
K L Parker Gaddis, J H Megonigal, J S Clay, C W Wolfe
Ketosis is one of the most frequently reported metabolic health events in dairy herds. Several genetic analyses of ketosis in dairy cattle have been conducted; however, few have focused specifically on Jersey cattle. The objectives of this research included estimating variance components for susceptibility to ketosis and identification of genomic regions associated with ketosis in Jersey cattle. Voluntary producer-recorded health event data related to ketosis were available from Dairy Records Management Systems (Raleigh, NC)...
November 8, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/29127902/a-survey-of-machine-learning-applications-in-hiv-clinical-research-and-care
#17
REVIEW
Kuteesa R Bisaso, Godwin T Anguzu, Susan A Karungi, Agnes Kiragga, Barbara Castelnuovo
A wealth of genetic, demographic, clinical and biomarker data is collected from routine clinical care of HIV patients and exists in the form of medical records available among the medical care and research communities. Machine learning (ML) methods have the ability to identify and discover patterns in complex datasets and predict future outcomes of HIV treatment. We survey published studies that make use of ML techniques in HIV clinical research and care. An advanced search relevant to the use of ML in HIV research was conducted in the PubMed biomedical database...
November 8, 2017: Computers in Biology and Medicine
https://www.readbyqxmd.com/read/29126825/artificial-intelligence-in-medical-practice-the-question-to-the-answer
#18
REVIEW
D Douglas Miller, Eric W Brown
Computer science advances and ultra-fast computing speeds find artificial intelligence (AI) broadly benefitting modern society - forecasting weather, recognizing faces, detecting fraud, and deciphering genomics. AI's future role in medical practice remains an unanswered question. Machines (computers) learn to detect patterns not decipherable using biostatistics by processing massive datasets (big data) through layered mathematical models (algorithms). Correcting algorithm mistakes (training) adds to AI predictive model confidence...
November 7, 2017: American Journal of Medicine
https://www.readbyqxmd.com/read/29126118/decentralized-and-reproducible-geocoding-and-characterization-of-community-and-environmental-exposures-for-multisite-studies
#19
Cole Brokamp, Chris Wolfe, Todd Lingren, John Harley, Patrick Ryan
Objective: Geocoding and characterizing geographic, community, and environmental characteristics of study participants is frequently done in epidemiological studies. However, participant addresses are identifiable protected health information (PHI) and geocoding must be conducted in a Health Insurance Portability and Accountability Act-compliant manner. Our objective was to create a software application for this process that addresses limitations in current approaches. Materials and Methods: We used a containerization platform to create DeGAUSS (Decentralized Geomarker Assessment for Multi-Site Studies), a software application that facilitates reproducible geocoding and geomarker assessment while maintaining the confidentiality of PHI...
November 8, 2017: Journal of the American Medical Informatics Association: JAMIA
https://www.readbyqxmd.com/read/29125628/genomics-based-non-invasive-prenatal-testing-for-detection-of-fetal-chromosomal-aneuploidy-in-pregnant-women
#20
REVIEW
Mylène Badeau, Carmen Lindsay, Jonatan Blais, Leon Nshimyumukiza, Yemisi Takwoingi, Sylvie Langlois, France Légaré, Yves Giguère, Alexis F Turgeon, William Witteman, François Rousseau
BACKGROUND: Common fetal aneuploidies include Down syndrome (trisomy 21 or T21), Edward syndrome (trisomy 18 or T18), Patau syndrome (trisomy 13 or T13), Turner syndrome (45,X), Klinefelter syndrome (47,XXY), Triple X syndrome (47,XXX) and 47,XYY syndrome (47,XYY). Prenatal screening for fetal aneuploidies is standard care in many countries, but current biochemical and ultrasound tests have high false negative and false positive rates. The discovery of fetal circulating cell-free DNA (ccfDNA) in maternal blood offers the potential for genomics-based non-invasive prenatal testing (gNIPT) as a more accurate screening method...
November 10, 2017: Cochrane Database of Systematic Reviews
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