July 3rd, 2009 by RamonaBatesMD in Better Health Network
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Poland’s syndrome is a congenital disorder. The classic ipsilateral features of Poland syndrome include the following: absence of sternal head of the pectoralis major, hypoplasia and/or aplasia of breast or nipple, deficiency of subcutaneous fat and axillary hair, abnormalities of rib cage, and upper extremity anomalies. These upper extremity anomalies include short upper arm, forearm, or fingers (brachysymphalangism). (photo credit)
Additional features of Poland syndrome include the following: hypoplasia or aplasia of serratus, external oblique, pectoralis minor, latissimus dorsi, infraspinatus, and supraspinatus muscles; total absence of anterolateral ribs and herniation of lung; and symphalangism with syndactyly and hypoplasia or aplasia of the middle phalanges. (photo credit)
The name of this condition pays homage to Dr. Alfred Poland of Guy’s Hospital, who in 1841 described a case of these two deformities during the autopsy of a 27-year-old convict, but as this article points out he wasn’t the first to recognize the syndrome.
If you enjoy medical history, then you will enjoy this article. It explores the historical literature to reveal the progression of knowledge about this syndrome. Here is a quick summary of different investigators who contributed to the understanding of Poland’s syndrome. The article goes into more detail of each.
| 1826 |
Lallemand is first to describe the absence of the pectoralis. |
| 1835 |
Bell is the first to record the absence of the pectoralis |
| 1839 |
Forlep is first to describe the paired absence of the pectoralis and ipsilateral syndactyly |
| 1841 |
Poland is the second to describe the paired absence of the pectoralis and ipsilateral syndactyly |
| 1895 |
Thomson is the first to document an understanding that the deformities accompanied one another |
| 1900 |
Furst is the first to propose that the anomalies constituted a syndrome |
| 1902 |
Bing is the first to present a case series of patients with the syndrome |
| 1940 |
Brown and McDowell are the first to document a thorough review of the syndrome |
| 1962 |
Clarkson is the first to propose the name “Poland’s Syndactyly” for the syndrome |
As the authors conclude:
Honoring physicians for notable achievements in the form of eponyms can be viewed as a harmless way to bring a little bit of warmth to an otherwise cold world of facts. The least we can do, though, is to recognize the contributions of those who endeavored to shape our current understanding of disease.
Perhaps if history took another course, Poland’s syndrome would instead be called Frolep’s syndrome or Furst’s syndrome. Or perhaps it might simply have been called pectoral-aplasia-dysdactylia syndrome
REFERENCES
Poland’s Syndrome: Current Thoughts in the Setting of a Controversy; Plastic & Reconstructive Surgery. 123(3):949-953, March 2009; Ram, Ashwin N. B.S.; Chung, Kevin C. M.D., M.S. (subscription required)
*This blog post was originally published at Suture for a Living*
October 26th, 2008 by Dr. Val Jones in Expert Interviews
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Dr. Armstrong
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Genetic testing is all the rage. Thousands of tests are now available over the Internet, costing people anything from $60 to $3000 per test. While some DNA sequences are fairly well understood (like the BrCA gene or the chromosomal anomaly that causes Down’s Syndrome), most of them are only loosely associated with specific diseases and health outcomes. Experts agree that one day we’ll have a better understanding of the complex interplay of multiple gene sequences, but that day is still far off.
A recent post at GigaOM (h/t to KevinMD ) was critical of genetic testing in general, noting its potentially prohibitively expensive consequences:
Somewhere between 10 and 50 percent of autopsies reveal diseases other than the one that killed the patient. If consumers test themselves, then tell their doctors, the medical system could wind up treating 50 percent more diseases than it does today — even those that wouldn’t have killed the patient.
I interviewed Dr. Joanne Armstrong, senior medical director for Aetna, and assistant professor of obstetrics and gynecology at Baylor College of Medicine in Houston, Texas, about the current state of genetic testing. To listen to the full conversation, please click here.
Dr. Val: First of all, could you tell me a little bit about your work, and what got you interested in genetics in the first place?
Dr. Armstrong: I am the head of the Women’s Health division of Aetna, and about 8 years ago when BrCA testing (the test for predisposition to breast and ovarian cancer) became widely available, I began thinking about the educational initiatives that needed to support this testing. I knew that it would become part of mainstream medical practice and wanted to make sure that patients understood the tests and what to do about them.
Dr. Val: In your view, what are some legitimate and appropriate genetic tests?
Dr. Armstrong: There are about 1200 genetic tests available now, and most of them are not medically appropriate or clinically valid. Read more »
January 29th, 2008 by Dr. Val Jones in Health Policy
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I attended an excellent brown bag lunch with Dr. Greg Downing today. He’s the program director for the U.S. Department of Health and Human Services’ (HHS) Personalized Health Care Initiative. He spoke about some of the challenges associated with incorporating genetic test results into a personalized health record, and how consumer demand is fueling biotech companies to offer tests long before their clinical significance has been determined.
Here are some interesting statistics that Dr. Downing mentioned:
Only 15% of Americans have their medical records in an electronic format that they can access
About 30% of clinical decisions are based upon evidence from quality research
At least 70% of genetic tests are requested by patients, rather than clinicians
At the same time, HSS Secretary Mike Leavitt has issued this vision statement about personalized health care:
“Personalized health care is providing the right treatment, for the right patient, for the first time, every time.”
So what we have here is an incredible gap between our aspirations and reality. While we want to leverage genetic information for disease prevention purposes, subjecting the entire population to a “needle in a haystack” search for disease predictors is extremely expensive. In addition, genes rarely provide black and white answers regarding disease risk. Sure there’s the Huntington’s Disease gene (which really does have a nearly 100% correlation with the development of the disease), but the vast majority of genes have much more gray significance, with shades of predisposition and uncertainty.
Biotech companies sense America’s eagerness to peer into its health future, and are actively engaged in direct to consumer advertising. With tests ranging in price from $300-$3000 dollars, and wealthier clients willing to pay for the tests, they stand to make a good profit without clear improvements in health outcomes, or patients even knowing how to interpret their results.
Connecticut Attorney General Richard Blumenthal (D) recently said his office is investigating the accuracy of claims Myriad makes about the test in the ads, including issuing a subpoena for information about the ads. Blumenthal said his office has received complaints from professional caregivers, clinicians and scientists who believe the test has a “very high potential for misinterpretation and overreaction.”
In a rather extreme case of putting the cart before the horse, a potential susceptibility to suicidality (while on particular anti-depressants) was linked to a certain gene sequence. The day after the publication of this preliminary research one company was offering the genetic test directly to patients for $500/test.
So ultimately I agree with Dr. Downing’s cautionary message: let evidence based medicine be the foundation upon which personalized medicine is built. Mad dashes for genetic enlightenment don’t mean much if we don’t know how to interpret the test results. And let’s not forget the role of environmental factors in our health. You may have longevity genes, but if you’re engaged in risky behaviors, what good are they?
I do believe that the study of genetics is critical to our understanding of health and disease, but we need to do the research to learn how to leverage what we learn. Research is costly and slow, but the rewards are worth the investment. If you are going to undergo genetic testing online, make sure that you do so with a reputable company like DNA Direct that offers evidence-based tests with genetic counseling as part of the package, so that you will know what your test(s) mean. Of course, the best plan is to discuss genetic testing with your doctor.
And as for Secretary Leavitt, I applaud his vision and look forward to the day when we’ll all have access to our health information online, and we’ll receive the right treatments at the right time, every time… Let’s just say we’re not there yet.This post originally appeared on Dr. Val’s blog at RevolutionHealth.com.
November 4th, 2007 by Dr. Val Jones in News
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Harvard researcher, Dr. George Church, is spearheading a project that would make complete personal genome mapping available for a mere $1000. I read his research subject recruitment disclaimer. Here is a choice excerpt:
Volunteers should be aware of the ways in which knowledge of their genome and phenotype might be used against them. For example, in principle, anyone with sufficient knowledge could take a volunteer’s genome and/or open medical records and use them to (1) infer paternity or other features of the volunteer’s genealogy, (2) claim statistical evidence that could affect employment or insurance for the volunteer, (3) claim relatedness of the volunteer to infamous villains, (4) make synthetic DNA corresponding to the volunteer and plant it at a crime scene, (5) revelation of disease lacking a current cure.
I wonder what personal genome mapping means from an ethical and legal perspective? Are we equipped to handle the possible privacy violations and prejudice inspired by DNA coded predispositions? On the one hand, customizing medical treatment to a person’s genes offers some of the best hope for optimal care and cures. On the other hand, having your genes on public display could put you at risk for the five problems described by Dr. Church.
These are exciting and frightening times.This post originally appeared on Dr. Val’s blog at RevolutionHealth.com.
September 5th, 2007 by Dr. Val Jones in News
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Like most of us, this headline made me squirm – visions of the Minotaur, mermaids, and Dolly the sheep with a human face, danced in my head. But as much as this form of experimentation seemed ethically wrong, I decided to figure out what exactly they were proposing.
The Human Fertilisation and Embryology Authority (HFEA) ruled that British scientists could now use animal eggs to host human stem cells. Because there is a shortage of human eggs to use for experimentation, they asked that rabbit or cow eggs be used.
Stem cells are the first kind of cells created when an egg is fertilized and divides. They are capable of developing into any kind of human cell – and are therefore quite interesting in terms of their potential to heal. (Transplanting these cells into damaged tissue can actually repair the tissue to some extent – no matter if its brain, heart muscle or other tissue). But these stem cells have to incubate inside an egg (kind of like a tiny soft shell) if they are to divide.
So the scientists are asking to use animal egg shells (without the nucleus that contains the majority of their DNA) as mini incubators for human stem cells. The HFEA approved that use – but has NOT approved mixing human and animal DNA in a human egg. Such a blend would serve no useful scientific purpose.
Ultimately, the goal of this human-animal embryo experiment is to allow for the creation of many more human stem cells without harvesting human eggs to do so. It also may help scientists to understand what these egg “shells” do to influence the growth of stem cells – if we knew how that worked, we may not need to use human eggs to retrieve stem cells, but could create them from any cell in the body.
So, although this embryo experiment sounds alarming at first – it’s actually a way to do stem cell research without using so many human eggs. Now, that doesn’t mean that I necessarily condone the idea – but it helps put into perspective what the scientists are proposing. Rest assured that there will be no Minotaurs resulting from these particular experiments.This post originally appeared on Dr. Val’s blog at RevolutionHealth.com.
