EyeWitness Summer 2010 - 20

the following is a copy of an article related to medical errors.

What is Beals syndrome?
Beals syndrome, or congenital contractural arachnoldactyly, is a rare genetic condition first described by Beals and Hecht in 1971. it is similar to marfans, yet different. it is caused by a mutation (change) in a gene (fBn2) that is closely related to the gene (fBn1) that causes marfan syndrome. Beals is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered 1 through 22 and the sex chromosomes are designated X and y. males have one X and one y chromosome and females have two X chromosomes. each chromosome has a short arm designated “p” and a long arm designated “q.” chromosomes are further sub- divided into many bands that are numbered. for example, “chromosome 5q23-31” refers to bands 23-31 on the long arm of chromosome 5. the numbered bands specify the location of the thousands of genes that are present on each chromosome. children with Beals syndrome typically lack the ability to extend multiple joints such as fingers, toes, elbows, knees and hips (contractures). they have long slender fingers and toes (arachnodactyly), abnormal curvature of the spine (scoliosis), reduced bone mass (osteopenia), underdevelopment of muscles (muscular hypoplasia), backward and lateral curvature of the spine at birth and early childhood (kyphoscoliosis), crumpled appearance to the top of the ears, and occasionally aortic enlargement and /or mitral valve prolapse. Usually there are no significant eye problems related to Beals syndrome. this case is an example of an unfortunate complication associated with a hospital stay. in addition to all the care he requires for the syndrome, he will need to be followed for ocular management for the rest of his life. one other reason this case interests me is that he has bilateral cochlear implants. He received them much later in life than my daughter did hers. as a result, his ability to communicate is a bit limited. although there are tiny bones in the ear, i cannot find any documentation of associated deafness with the diagnosis of Beals syndrome although it is a connective tissue disorder in the broadest sense. it just happens. Just like the misfortune with his eyes. i look forward to working with this young man and his family. every time i see him in clinic, my sensitive side is stimulated. i have compassion for this child. i want him to be given every opportunity to grow up and be successful in what ever he chooses to do. He has already had enough bad luck for a life time.

Deadly medical Errors still Plague u.s.
report shows 10-year Effort to Curb medical Errors yields Few results
By Kathleen Doheny, webmD Health news reviewed by louise chang, mD

May 19, 2009—Little progress has been made to reduce deadly medical errors in the U.S. in the past decade despite a call to action in 1999, according to a report by Consumers Union. In 1999, the Institute of Medicine (IOM) issued an alarming report titled “To Err is Human,” detailing the toll of preventable medical errors in the U.S; it estimated that up to 98,000 Americans die annually from them. The report triggered a flurry of activity, including congressional hearings, introduction of legislative bills, and promises of reform. But today, more than 100,000 people a year still die from medical errors, says Lisa McGiffert, campaign director for the Safe Patient Project of Consumers Union and a report co-author. The estimate of 100,000 deaths is drawn from more recent data from the CDC. “As a country we haven’t moved forward as the Institute of Medicine has hoped,” McGiffert tells WebMD. ‘’In 1999, the IOM said we should reduce errors by 50% over five years.” Even the 100,000 figure is an estimate, she says, because there is no centralized system for tracking and monitoring medical harm.

Measuring Progress Since 1999
In the new report, McGiffert and her colleagues looked at four key recommendations made by the IOM in 1999 to make health care safer. Here are the original recommendations, and the progress—or lack thereof—as assessed by Consumers Union, which publishes Consumer Reports: Implement safe medication practices. To reduce the 1.5 million preventable medication errors annually, the IOM recommended stronger oversight by the FDA, such as looking at safety issues linked with similarly named drugs and with packaging and labeling as well as conducting post-market surveillance to detect risk in drugs already approved. But progress is lacking, the report says. While the FDA reviews new drug names for confusion, few are actually changed, it contends. And just 17% of hospitals use computerized physician-orderentry systems, according to a 2008 survey, even though the systems have been shown to reduce drug errors. No reliable system is available nationally to disclose medication errors by facility, the report says.
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EyeWitness Summer 2010

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