Skip to content

14766388005_021e288b59_oThe Genetics Journal Club for this month features the article Molecular Support for Heterogonesis Resulting in Sesquizygotic Twinning that was recently published in the New England Journal of Medicine.  The article describes boy-girl twins whose maternal DNA was identical, and who share paternal DNA as with genetic siblings.  The authors propose that sesquizygosis is a newly identified and rare third type of twinning along with monozygotic (identical) and dizygotic (fraternal) twins .   The article describes the authors' research to identify other pairs of sesquizygotic twins, a case report regarding this set of twins who are now four years old, and theories regarding how sesquizygosis occurs.

Explore additional genetics articles by searching Himmelfarb Library's PubMed which provides direct links to articles in our online collections.

 

Image citation: Anonymous (1922).  Single ovum twins [online image] from Plass, E.D. (1922). Obstetrics for nurses.  New York: Appleton and Company.

bestof2018DynaMed Plus' editorial team systematically reviews newly published health sciences literature in order to ensure that the best available evidence is integrated into DynaMed Plus articles.  Last year, the DynaMed team reviewed more than 20,000 articles and added used information from more than 9,000 of these articles to update articles in DynaMed Plus.  In their 2018 Year in Review, DynaMed's editorial team present the five most important articles from 2018:
  1. Antihypertensive treatment for low-risk patients with mild hypertension does not appear to be beneficial.  Sheppard, J. P., Stevens, S., Stevens, R., Martin, U., Mant, J., Hobbs, F. R., & McManus, R. J. (2018). Benefits and Harms of Antihypertensive Treatment in Low-Risk Patients With Mild Hypertension. JAMA internal medicine, 178(12), 1626-1634.
  2. Aspirin for primary prevention does not reduce vascular events in adults aged ≥ 70 years and may increase rates of death and major bleeding.   McNeil, J. J., Wolfe, R., Woods, R. L., Tonkin, A. M., Donnan, G. A., Nelson, M. R., ... & Shah, R. C. (2018). Effect of aspirin on cardiovascular events and bleeding in the healthy elderly. New England Journal of Medicine, 379(16), 1509-1518.
  3. Vitamin D plus calcium supplementation might not reduce the risk of hip fracture in unselected community-dwelling adults > 50 years old.  Zhao, J. G., Zeng, X. T., Wang, J., & Liu, L. (2017). Association between calcium or vitamin D supplementation and fracture incidence in community-dwelling older adults: a systematic review and meta-analysis. Jama, 318(24), 2466-2482.
  4. Could elective inductions at 39 weeks in low-risk nulliparous women help neonates ARRIVE more quickly and more safely?  Grobman, W. A., Rice, M. M., Reddy, U. M., Tita, A. T., Silver, R. M., Mallett, G., ... & Rouse, D. J. (2018). Labor induction versus expectant management in low-risk nulliparous women. New England Journal of Medicine, 379(6), 513-523.
  5. As-needed budesonide/formoterol for mild persistent asthma may prevent serious exacerbations as well as twice-daily maintenance budesonide.   Bateman, E. D., Reddel, H. K., O’byrne, P. M., Barnes, P. J., Zhong, N., Keen, C., ... & FitzGerald, J. M. (2018). As-needed budesonide–formoterol versus maintenance budesonide in mild asthma. New England Journal of Medicine, 378(20), 1877-1887.

PolicyMap_DC_life expectancy

PolicyMap now provides access to new life expectancy data from the Centers for Disease Control & Prevention.  This data provides standardized life expectancy data at census tract level, and allows identification of neighborhood-level differences in life expectancy as shown in this map of life expectancy in Washington, DC using CDC data on 'Life expectancy at birth, as of 2010-2015'.

Learn more about this data and PolicyMap functionality via PolicyMap's article Knowing Life Expectancy to Improve Public Health.

 

Himmelfarb Library provides access to  PolicyMap  .  To learn more about PolicyMap, please ask us, review the PolicyMap YouTube Channel, or check out tutorials including:

 

  • Maps: easily display data using different geographic parameters
  • Tables: View data as a bar graph or chart to compare multiple geographies
  • Reports: Run reports for predefined geographic areas or create a custom area
  • 3-Layer maps: Find areas that meet up to three criteria for site selection or to locate hot spots
  • Data loader: updaload your own address-level data
  • Data download: download PolicyMap data for use in your research

 

 

8249906174_145e319ebd_oNew research published in JAMA Internal Medicine looks at the inverse relationship between coffee drinking and mortality. In this population-based study, researchers used baseline demographic data to estimate hazard ratios for coffee intake and mortality, and also looked at the potential effect of specific genes which are known to modify caffeine metabolism.

In Association of Coffee Drinking With Mortality by Genetic Variation in Caffeine Metabolism: Findings From the UK Biobank, Lotfield, Cornelis, and Caporaso seek to answer the question:

"Moderate coffee consumption has been inversely associated with mortality; however, does heavy intake, particularly among those with common genetic polymorphisms that impair caffeine metabolism, increase risk of mortality?"

To understand their research and find an interesting example of population-based genetic research, read the full article - and and enjoy your favorite caffeine beverage guilt-free while you read!

To learn more about these issues and other genetics topics, participate in the SMHS’s online Genetics Journal Club.

 

Image citation: Foong, C. (2012).  coffee [Online image].  Available at https://www.flickr.com/photos/cherylfoong/8249906174

PPSAn article recently published in the New England Journal of Medicine explores the inherent tension between public health and precision medicine as public health has worked to improve the health of populations and precision medicine seeks to improve the health of individuals via their unique genome.    In “Precision” Public Health — Between Novelty and Hype, Merlin Chowkwanyun, Ronald Bayer, and Sandro Galea explore what precision medicine might mean for public health and ask:

  • What does a shift toward precision medicine mean for public health?

  • Will precision public health provide an opportunity reenvision and empower public health or is it an abandonment of public health’s core aim of enhancing health at a population level?

  • How will public health integrate individual genome specific data and interventions with its broader mission?


To learn more about these issues and other genetics topics, participate in the SMHS’s online Genetics Journal Club.

 

 

600px-ONS_compositesCan genetic information catch a killer?  And, cost you your privacy?

A recent essay published the New England Journal of Medicine explores the value and potential societal costs posed by access to private genetic information.  In Sociogenetic Risks — Ancestry DNA Testing, Third-Party Identity, and Protection of Privacy, Dr. Thomas May explores the tension between the utility of genetic information and risks to privacy posed by individuals, including adoptees, seeking to identify genetic relatives, the limitations of the Genetic Information Nondiscrimination Act (GINA), and the effect on large scale population studies such as the National Institute of Health's All of Us initiative. 
To learn more about these issues and other genetics topics, explore the Genetics Journal Club and Himmelfarb Library‘s resources including:
  1. May T. Sociogenetic Risks - Ancestry DNA Testing, Third-Party Identity, and Protection of Privacy. N Engl J Med. 2018 Jun 20. doi: 10.1056/NEJMp1805870. [Epub ahead of print] PubMed PMID: 29924688. 
  2. Beamer LC. Ethics and Genetics: Examining a Crossroads in Nursing Through a Case Study
. Clin J Oncol Nurs. 2017 Dec 1;21(6):730-737. doi: 10.1188/17.CJON.730-737. PubMed PMID: 29149121. 
  3. Molnár-Gábor F, Lueck R, Yakneen S, Korbel JO. Computing patient data in the cloud: practical and legal considerations for genetics and genomics research in Europe and internationally. Genome Med. 2017 Jun 20;9(1):58. doi: 10.1186/s13073-017-0449-6. Review. PubMed PMID: 28633659; PubMed Central PMCID: PMC5477758. 

WashCapsAs the Washington Capitals' winning record brings them closer to the Stanley Cup, Himmelfarb Library looks to the health sciences literature to assess if being a Washington Capitals' fan can make you happier.

In this article, researchers explored the relationship of emotional expression with group membership.  Extrapolating from that data, we suggest that being a Washington Capitals fan will make you happier.

GO CAPS!

puzzleIn the recent NEJM essay p53 and me, Shekinah N.C. Elmore describes the experience of living with a genetic diagnosis as "flying between fatalism and denial".  Dr. Elmore was diagnosed with Li–Fraumeni syndrome during her 1st year of medical school having already survived childhood rhabdomyosarcoma and simultaneous diagnoses of breast and lung cancer as an adult.  Dr. Elmore explores what it means in her life to have this genetic knowledge, how it affects her life,  and what types of information would help her and others undergoing genetic testing in the future.

To learn more about genetic testing, genetic counseling, Li–Fraumeni syndrome, and other genetics topics, explore the Genetics Journal Club and Himmelfarb Library's resources including:

https://youtu.be/uQjOTTAlgjE

Can gene therapy eliminate the need for blood transfusions for patients with transfusion-dependent β thalassemia?

This article reports the results of two phase 1-2 studies studied on the use of a gene therapy.  In these studies, patients with transfusion-depenent β-thalassemia received gene therapy to assess if this therapy would substitute for the standard therapy, red-cell blood transfusions.  The researchers were assessing both the safety and the efficacy of this gene therapy.  You can read the results of this study in the New England Journal of Medicine.

Thompson, A. A., Walters, M. C., Kwiatkowski, J., Rasko, J. E., Ribeil, J. A., Hongeng, S., ... & Moshous, D. (2018). Gene therapy in patients with transfusion-dependent β-thalassemiaNew England Journal of Medicine378(16), 1479-1493.

To learn more about this area of gene therapy, explore additional readings from Himmelfarb Library's full-text collection:

  • Boulad F, Mansilla-Soto J, Cabriolu A, Rivière I, Sadelain M. Gene Therapy and
    Genome Editing
    . Hematol Oncol Clin North Am. 2018 Apr;32(2):329-342. doi:
    10.1016/j.hoc.2017.11.007. Epub 2018 Jan 9. Review. PubMed PMID: 29458735.
  • Ferrari G, Cavazzana M, Mavilio F. Gene Therapy Approaches to
    Hemoglobinopathies
    . Hematol Oncol Clin North Am. 2017 Oct;31(5):835-852. doi:
    10.1016/j.hoc.2017.06.010. Review. PubMed PMID: 28895851.
  • Glaser A, McColl B, Vadolas J. The therapeutic potential of genome editing for
    β-thalassemia
    . F1000Res. 2015 Dec 11;4. pii: F1000 Faculty Rev-1431. doi:
    10.12688/f1000research.7087.1. eCollection 2015. Review. PubMed PMID: 26918126;
    PubMed Central PMCID: PMC4753996.

Explore more of Himmelfarb Library's genetics collection by checking out:

 That is the question now being considered in light of a new research article in the New England Journal of Medicine in which a new gene therapy drug was given to men with hemophilia B.  After receiving the new drug, the patients were able to stop using clotting factors to treat their hemophilia.  Patients rates of bleeding also fell - from about 11 bleeding events per year to less than one bleeding event per year.  Learn more about the research here:

Explore genetics topics via the Genetics Journal Club and Himmelfarb Library's genetics collection by checking out: