Showing posts with label genetic disorder. Show all posts
Showing posts with label genetic disorder. Show all posts

Monday, September 21, 2015

Everything You May Not Have Realized You Wanted to Need and Know About Genomic Sequencing

By: Lewis First, MD, MS; Editor-in-Chief         
     More and more we are recognizing the benefits and the risks, especially ethical risks of genomic sequencing studies on pediatric patients.  If you have not yet had a patient need genomic sequencing, it is only a matter of time until this technique becomes cost-effective and available to be ordered at the primary care level—maybe not just yet, but it’s coming soon.  To help all pediatricians better understand how to communicate and in turn interpret these tests, given the uncertainty of the data we can now get through sequencing, some assistance is needed.  Fortunately this week we are releasing two articles that we feel are good ones to read and file in your folder of articles to turn to when faced with a family asking or whom you feel needs genomic sequencing.   
     McCullough et al. (doi: 10.1542/peds.2015-0624) offers an ethical backbone to help us disclose results to families who have sequencing performed on their child.  This special article guides us through the process of how to recommend sequencing and then discuss the results and implications using core concepts of medical ethics.  Adding to this article is an accompanying commentary by geneticist Dr. Leah Burke (REF) that provides insight into how sequencing will become more and more integrated into the care we deliver.           
      Read the article and commentary in sequence and you’ll probably find yourself referring back to both as genomic sequencing becomes more and more a part of primary and specialty care practice.

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Tuesday, April 1, 2014

Case Report: Buccal Cell Chimerism in a Monochorionic Dizygotic Twin

Our Case Report Editor, Dr. Jeffery Malatack shares a case report we early released this month from our upcoming April issue:

Public Domain Photo
A case report has the capacity to bring to attention an observation that challenges the existing understanding of nature even when the implications of this paradigm alteration aren’t known.

Such is the case with the report by Fumoto and colleagues at the Kyorin University School of
Medicine’s HLA laboratory in Kyoto, Japan (doi: 10.1542/peds.2013-1938). Not until recently has the existence of monochorionic dizygotic twins (MCDZT) been known.

Prior to work by Souter et al. in 2003, monochorionic twins were believed to all be monozygous. Subsequent to Souter’s publication, MCDZT were recognized to be not extremely rare particularly in pregnancies by in vitro fertilization. Once such twins were recognized blood chimerism between such twins was noted to occur fairly often. Blood derived from one zygote was found in the blood stream of the twin derived from the other zygote and vice versa.

This finding, it is assumed, occurs when placental vessels cross during in-utero development mixing one twins blood elements with the others. Until Fumoto’s report, only blood elements were known to be chimeric in MCDZT and only on occasion. Fumoto upsets that notion by finding chimeric buccal cells in each of a twin set. The authors speculate on the mechanism of this finding and possible implications of its occurrence in the report.

It appears that the more deeply we look into biology, the more we find exceptions that no doubt are new harbingers of deeper understanding of nature’s overall plan.

Thursday, September 26, 2013

Case Report: Wilson's Disease

Our Case Report Editor, Dr. Jeffery Malatack shares a case report we early released this month from our upcoming October issue:

Wilson Disease’s normal progression from asymptomatic accumulation of hepatic copper to varied manifestation of liver disease, neurologic involvement and anemia can go undiagnosed (because of these many possible presentations) until life threatening and/or liver transplantation-requiring disease evolves.  A high index of suspicion and earlier diagnosis renders Wilson Disease manageable in most instances without transplantation and before irreversible neurologic injury has occurred, allowing one or another medical “decoppering” therapy to be used effectively.

Dr. Rosen and colleagues (doi: 10.1542/peds.2012-2923) at the Children’s Hospital of Chicago identify yet another presentation to look out for: spasmodic muscle cramps and weakness. In Rosen’s patient’s case, the initial workup for a primary muscle disease led to recognition of liver disease and ultimately to the correct diagnosis. Copper chelation resolved the symptoms and abnormal laboratory findings over a few months without the need for liver transplantation. The lesson that muscle cramps may not be musculoskeletal in origin may have profound impact on early diagnosis in one of your patients.