los capítulos incluidos en esta sección, se actualizarán semanalmente, incorporando documentos y accesos a nuevas bases de datos que actualmente están en desarrollo... los contenidos, como es costumbre en secciones avanzadas, están únicamente en idioma inglés y reflejan los últimos contenidos editados en cada materia en todo el mundo...
Health Impact Weekly Scan
About the Health Impact Weekly Scan
This weekly update features emerging roles of human genomics, testing and interventions in a wide variety of noncommunicable diseases across the life span, including, birth defects, newborn screening, reproductive health, childhood diseases, cancer, chronic diseases, pharmacogenomics, family health history, guidelines and recommendations. The weekly sweep also includes news, reviews, commentaries, tools and databases.
Human Genomics across the Lifespan
Birth Defects and Child Health
- Challenges in Cystic Fibrosis Newborn Screening and Recommendations for Primary Care Physicians.
Sosnay Patrick R et al. Pediatrics 2015 Nov - Clinical utility gene card for: MAN1B1 defective congenital disorder of glycosylation.
Jaeken Jaak et al. European journal of human genetics : EJHG 2015 Nov - Clinical utility gene card for: Biotinidase deficiency-update 2015.
Küry Sébastien et al. European journal of human genetics : EJHG 2015 Nov - MASAC Recommendations on Standardized Testing and Surveillance for Inhibitors in Patients with Hemophilia A and B,
National Hemophilia Foundation, October 6, 2015
Cancer
- Cancer prevention as part of precision medicine: "plenty to be done".
Stewart Bernard W et al. Carcinogenesis 2015 Nov - Cancer Immunotherapy Researchers Focus on Refining Checkpoint Blockade Therapies
Jacob JA. JAMA. 2015;314(20):2117-2119 - Precision medicine for cancer with next-generation functional diagnostics.
Friedman Adam A et al. Nature reviews. Cancer 2015 Dec 15(12) 747-56 - Alliance Against Cancer, the network of Italian cancer centers bridging research and care.
De Paoli Paolo et al. Journal of translational medicine 2015 13(1) 360 - Celebrity Health Announcements and Online Health Information Seeking: An Analysis of Angelina Jolie's Preventative Health Decision.
Dean Marleah et al. Health communication 2015 Nov 1-10 - Non-genetic health professionals' attitude towards, knowledge of and skills in discussing and ordering genetic testing for hereditary cancer.
Douma Kirsten F L et al. Familial cancer 2015 Nov - Implications of polygenic risk for personalised colorectal cancer screening.
Frampton M et al. Annals of oncology : official journal of the European Society for Medical Oncology / ESMO 2015 Nov - Impact of Genetic Counseling and Testing on Altruistic Motivations to Test for BRCA1/2: a Longitudinal Study.
Garg Rahul et al. Journal of genetic counseling 2015 Nov - Family history assessment for colorectal cancer (CRC) risk analysis - comparison of diagram- and questionnaire-based web interfaces.
Schultz Michael et al. BMC medical informatics and decision making 2015 15(1) 95 - Clinical Use of Cancer Biomarkers in Epithelial Ovarian Cancer: Updated Guidelines From the European Group on Tumor Markers.
Sölétormos György et al. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2015 Nov - TSGene 2.0: an updated literature-based knowledgebase for tumor suppressor genes.
Zhao Min et al. Nucleic acids research 2015 Nov - Improved health perception after genetic counselling for women at high risk of breast and/or ovarian cancer: construction of new questionnaires-an Italian exploratory study.
Catania Chiara et al. Journal of cancer research and clinical oncology 2015 Nov - Comparison of Prediction Models for Lynch Syndrome Among Individuals With Colorectal Cancer.
Kastrinos Fay et al. Journal of the National Cancer Institute 2016 Feb 108(2) - BRAF(V600E) mutation is highly prevalent in thyroid carcinomas in the young population in Fukushima: a different oncogenic profile from Chernobyl.
Mitsutake Norisato et al. Scientific reports 2015 516976 - Current Status of the Management of Hereditary Breast and Ovarian Cancer in Asia: First Report by the Asian BRCA Consortium.
Nakamura Seigo et al. Public health genomics 2015 Nov - Prospective assessment of the decision-making impact of the Breast Cancer Index in recommending extended adjuvant endocrine therapy for patients with early-stage ER-positive breast cancer.
Sanft Tara et al. Breast cancer research and treatment 2015 Nov
Chronic Diseases
- Genetic testing of etiology of intellectual disability in a dedicated physical healthcare outpatient clinic for adults with intellectual disability.
Wallace R A et al. Internal medicine journal 2015 Nov
Ethics, Policy and Law
- Genetic testing and genomic analysis: a debate on ethical, social and legal issues in the Arab world with a focus on Qatar.
El Shanti Hatem et al. Journal of translational medicine 2015 13(1) 358 - A systematic literature review of individuals' perspectives on broad consent and data sharing in the United States.
Garrison Nanibaa' A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Nov - Translating personalized genomic medicine into clinical practice: evidence, values, and health policy.
Bombard Yvonne et al. Genome / National Research Council Canada = Genome / Conseil national de recherches Canada 2015 Nov 1-7 - Principle of proportionality in genomic data sharing
Wright CF, et al. Nature Reviews Genetics (2015) November 23
Genomics in Practice
- Direct-to-consumer genetic testing for predicting sports performance and talent identification: Consensus statement.
Webborn Nick et al. British journal of sports medicine 2015 Dec 49(23) 1486-91 - Genetics: Relative risk.
Velasquez-Manoff Moises et al. Nature 2015 Nov 527(7578) S116-7 - Whole Exome and Whole Genome Sequencing, Cigna Medical Coverage Policy [PDF 114.71 KB]
- ClinVar: public archive of interpretations of clinically relevant variants.
Landrum Melissa J et al. Nucleic acids research 2015 Nov - What works in genomics education: outcomes of an evidenced-based instructional model for community-based physicians.
Reed E Kate et al. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Nov - Genetics: Big hopes for big data.
Adams Jill U et al. Nature 2015 Nov 527(7578) S108-9 - Health Officials’ Latest Tool in Tool Box – Whole Genome Sequencing,
National Law Review, November 24, 2015 - Effectiveness of Practices To Increase Timeliness of Providing Targeted Therapy for Inpatients with Bloodstream Infections: a Laboratory Medicine Best Practices Systematic Review and Meta-analysis.
Buehler Stephanie S et al. Clinical microbiology reviews 2016 Jan 29(1) 59-103
Cardiovascular Diseases
- Genetic Testing and Genetic Counseling in Patients With Sudden Death Risk Due to Heritable Arrhythmias.
Spoonamore Katherine G et al. Heart rhythm : the official journal of the Heart Rhythm Society 2015 Nov - Patients with familial hypercholesterolaemia are characterized by presence of cardiovascular disease at the time of death.
Krogh Henriette Walaas et al. European heart journal 2015 Nov - PCSK9 and Clinical Outcomes in Hypercholesterolemia
American College of Cardiology, November 24, 2015
Newborn Screening
- Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
Al-Jasmi Fatma A et al. JIMD reports 2015 Nov - Newborn Screening for Cystic Fibrosis in California.
Kharrazi Martin et al. Pediatrics 2015 Nov
Reproductive Health
- How do the trends in the prenatal diagnosis of aneuploidy change after a non-invasive prenatal test becomes available? A Japanese single center study.
Hasegawa Junichi et al. Journal of medical ultrasonics (2001) 2015 Apr 42(2) 195-8 - Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals.
Hill Melissa et al. European journal of human genetics : EJHG 2015 Nov - Cuba's Salgen: a provincial informatics network for genetic services to pregnant women and newborns.
Rodríguez-Vázquez Miguel et al. MEDICC review 16(3-4) 61-4
Pharmacogenomics
- What is needed to incorporate clinical pharmacogenetic tests into the practice of psychopharmacotherapy?
de Leon Jose et al. Expert review of clinical pharmacology 2015 Nov 1-4 - How your genes influence what medicines are right for you,
The Conversation, November 20, 2015
Tools and Databases
- The UCSC Genome Browser database: 2016 update.
Speir Matthew L et al. Nucleic acids research 2015 Nov
News/Reviews/Commentaries
- The Mermaid's Tale: Epigenetics: what is it and what isn't it? Part I: basic ideas,
by Ken Weiss, the Mermaid's Tale, November 24, 2015 - How to Share Your Cancer History with Family,
Pearl Point, November 24, 2015 - Cigna rolls out new coverage policy for whole exome sequencing,
By Emily Wasserman, Fierce Medical Devices, November 24, 2015 - Understanding Your Genome,
by Stephanie Dutchen, Harvard Medical School, November 20, 2015 - MASAC Releases New Recommendation on Inhibitors In Light of CDC Findings,
National Hemophilia Foundation, November 10, 2015 - SNP location helps predict disease aetiology
Nature Reviews Genetics (2015) November 23 - Children are the guardians of our genome
Jader L. BMJ 2015; 351 - Experts Question Role For At-Home Statin Intolerance Test,
by Larry Husten, Cardio Brief, November 22, 2015 - How Your Genes Influence What Medicines Are Right for You,
by Julie A Johnson, Huffington Post, November 22, 2015 - U.S. public health funding on the decline,
by Lisa Rapaport, Reuters, November 18, 2015 - Talk over turkey about health history,
Dayton Daily News, November 23, 2015 - Ancestry.com's new venture will supply clinicians with instant access to a patient's family history - and make the EMR more robust,
by Eric Wicklund, mHealth Intelligence, November 17, 2015 - Rare Disease is a Lens on Cancer,
Weizmann Wonder Wander, November 24, 2015 - Celebrate Thanksgiving by Discussing Your Family’s Health History,
by Jeff Briggs, Mayo Clinic, November 23, 2015
CDC-Authored Genomics Publications
- Monoclonal antibodies to human butyrylcholinesterase reactive with butyrylcholinesterase in animal plasma.
Peng Hong, Brimijoin Stephen, Hrabovska Anna, Krejci Eric, Blake Thomas A, Johnson Rudolph C, Masson Patrick, Lockridge Oksana Chemico-biological interactions 2015 11 0. . - MALDI-TOF-MS Assay to Detect the Hemizygous 22q11.2 Deletion in DNA from Dried Blood Spots.
Kobrynski Lisa J, Yazdanpanah Golriz K, Koontz Deborah, Lee Francis K, Vogt Robert F Clinical chemistry 2015 11 0. . - Draft Genome Sequences from Cyclospora cayetanensis Oocysts Purified from a Human Stool Sample.
Qvarnstrom Yvonne, Wei-Pridgeon Yuping, Li Wen, Nascimento Fernanda S, Bishop Henry S, Herwaldt Barbara L, Moss Delynn M, Nayak Vishal, Srinivasamoorthy Ganesh, Sheth Mili, Arrowood Michael J Genome announcements 0 0 0. (6) . - Surveillance for Severe Acute Respiratory Infections (SARI) in Southern Arizona, 2010-2014.
Wansaula Zimy, Olsen Sonja J, Casal Mariana, Golenko Catherine, Erhart Laura M, Kammerer Peter, Whitfield Natalie, McCotter Orion Influenza and other respiratory viruses 2015 11 0. . - Evolutionary Relationships of Outbreak-associated Listeria monocytogenes Strains of Serotypes 1/2a and 1/2b Determined by Whole Genome Sequencing.
Bergholz Teresa M, den Bakker Henk C, Katz Lee S, Silk Benjamin J, Jackson Kelly A, Kucerova Zuzana, Joseph Lavin A, Turnsek Maryann, Gladney Lori M, Halpin Jessica L, Xavier Karen, Gossack Joseph, Ward Todd J, Frace Michael, Tarr Cheryl L Applied and environmental microbiology 2015 11 0. . - Considerations for Using Genetic and Epigenetic Information in Occupational Health Risk Assessment and Standard Setting.
Schulte P A, Whittaker C, Curran C P Journal of occupational and environmental hygiene 2015 11 0. (sup1) S69-S81. - Molecular Survey of Bartonella Species and Yersinia pestis in Rodent Fleas (Siphonaptera) From Chihuahua, Mexico.
Fernández-González Adriana M, Kosoy Michael Y, Rubio André V, Graham Christine B, Montenieri John A, Osikowicz Lynn M, Bai Ying, Acosta-Gutiérrez Roxana, Ávila-Flores Rafael, Gage Kenneth L, Suzán Gerardo Journal of medical entomology 2015 11 0. . - An expanded search for simian foamy viruses (SFV) in Brazilian New World primates identifies novel SFV lineages and host age-related infections.
Muniz Cláudia P, Jia Hongwei, Shankar Anupama, Troncoso Lian L, Augusto Anderson M, Farias Elisabete, Pissinatti Alcides, Fedullo Luiz P, Santos André F, Soares Marcelo A, Switzer William M Retrovirology 2015 0 0. (1) 94. - Engineering Enhanced Vaccine Cell Lines to Eradicate Vaccine-Preventable Diseases: The Polio Endgame.
van der Sanden Sabine M G, Wu Weilin, Dybdahl-Sissoko Naomi, Weldon William C, Brooks Paula, O'Donnell Jason, Jones Les P, Brown Cedric, Tompkins S Mark, Oberste M Steven, Karpilow Jon, Tripp Ralph A Journal of virology 2015 11 0. . - Accurate genetic detection of hepatitis C virus transmissions in outbreak settings.
Campo D S, Xia G L, Dimitrova Z, Lin Y, Forbi J C, Ganova-Raeva L, Punkova L, Ramachandran S, Thai H, Skums P, Sims S, Rytsareva I, Vaughan G, Roh H J, Purdy M A, Sue A, Khudyakov Y The Journal of infectious diseases 2015 11 0. .
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