A Fix for Keratoconus (an eye problem common in DS)

I thought this was a pretty cool article on how this doctor developed a non-surgical way to fix a degenerative eye disease. Hopefully this will help others who have Keratoconus.

Procedure Stabilizes Vision For Those Who Seek a Non-Surgical Solution for Degenerative Eye Disease

Renowned Beverly Hills ophthalmologist Dr. Brian Boxer Wachler performed his revolutionary non-invasive Holcomb C3-R(R) procedure on John Allen, a 31-year old from Shawnee, Oklahoma. Born partially deaf and with Down syndrome, Allen's vision was failing due to the degenerative eye disease Keratoconus. Though surgical options do exist to correct the disorder, surgeons had been reluctant to operate on Allen due to his pre-existing chromosomal and developmental condition. With Dr. Boxer Wachler's procedure, Allen's Keratoconus will be stopped in its tracks. His story raises awareness for others like him, as a recent study shows the prevalence of Keratoconus in those with Down syndrome to be exponentially higher (5%-15%) than the general population (.05%).

"The world needs to know that people with Down syndrome afflicted with Keratoconus can be treated and now have hope," said Dr. Boxer Wachler. "Due to the disproportionally high number of cases like John's, we hope to show that there is light at the end of the tunnel."

The Holcomb C3-R(R) procedure is a 30-minute outpatient procedure that is designed specifically to treat Keratoconus.

During the treatment, custom-made riboflavin eye drops are applied to the cornea, which are then activated by a special light, ultimately strengthening the weakened cornea. The technique, which Dr. Boxer Wachler has been performing since 2003, was renamed in honor of Olympic four-man bobsledder Steve Holcomb, who had retired from the sport in 2007 when Keratoconus had rendered him legally blind and unable to steer his sled. After Dr. Boxer Wachler's C3-R(R) procedure restored his sight, Holcomb led his four-man team to a gold medal at the 2010 Winter Games in Vancouver and Dr. Boxer Wachler added Holcomb's name to the procedure as a tribute.

The Holcomb C3-R(R) method works by aiding collagen cross-linking, which increases the cornea's mechanical strength, thus preventing the cornea from bulging out and becoming steep and irregular, which is caused by Keratoconus. When indicated patients can elect to combine the Holcomb C3-R(R) treatment with permanent contact lenses called Intacs that help flatten the Keratoconus cone even more, a technique also pioneered by Dr. Boxer Wachler in 1999. In these cases, the Intacs help reverse pre-existent Keratoconus steepening prior to the treatment.

With today's procedure, John Allen is on the road to improved overall quality of life. Allen's mother warmly stated "Dr. Brian Boxer Wachler is an angel sent to help our angel."

To learn more about Keratoconus, Dr. Boxer Wachler or the Holcomb C3-R(R), please visit www.KeratoconusInserts.com




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A New Study Showing 2 Genes Linked to Brain Impairment

A new study has recently been done in Down Syndrome mice that was to try to find which extra genes are responsible for the brain defects in people with DS (and in particular DS Mice in this study).

There are so many genes responsible for all the delays, impairments, etc that are present in Down syndrome. The puzzle is so large and complex scientists do not know the full spectrum of which genes, what gene overdoses, overexpressions, protein overexpressions, gene or protein deficiences are responsible for the syndrome. There have been quite a few studies done showing where the problems stem from in DS, but it hasn't unraveled the whole syndrome, which should be obvious.

While there is nothing known to counter the bad caused by Olig1 & Olig2 (the two genes studied in this new study) at this time, it is promising that the researches concluded the study that these genes may be "biomarkers for the rational development of early interventional therapies of the cognitive impairments in DS."

2 Genes Linked to Embryonic Brain Impairment in Down's Syndrome

(click here for the full article)

Researchers pin down two genes that may be responsible for abnormal neural development in Down's mice embryos. The findings may help identify possible therapeutic strategies to treat cognitive defects in human patients

In the new study led by Tarik Haydar, then at the Children's National Medical Center in Washington, D.C., the scientists sought to determine which of the extra genes in the DS mice are responsible for brain defects. (Haydar is currently a professor of anatomy and neurobiology at Boston University School of Medicine.) Their results were published online July 18 in Nature Neuroscience (Scientific American is a part of Nature Publishing Group).

First, the scientists found abnormal proportions of excitatory and inhibitory neurons in the brains of the embryonic DS mice, with a much higher quantity of the inhibitory cells. Then they looked over the list of extra genes present in the DS mice and homed in on Olig1 and Olig2, which are known from previous studies to program the developing brain to produce inhibitory neurons. They then engineered a generation of DS mice to have the normal genetic dosage of these genes. They found that simply eliminating the superfluous copies of Olig1 and Olig2 prevented the brain defects and restored normal communication among the neurons.

"This is an extremely elegant set of experiments, which are very difficult to do," says Roger Reeves, professor of physiology at Johns Hopkins University School of Medicine who studies mechanisms of gene action in Down's syndrome and was not involved in the study. The results "very much expand our understanding of just how these imbalances come to be in the first place, and demonstrates the specific role of [these genes] in this imbalance," Reeves says. He adds that the findings have important implications for several different drugs designed to ameliorate cognitive deficits in DS that are currently making their way to clinical trials.

The next step will be to determine whether the adult mice behave differently or perform better on learning and memory tests. Reeves points out that scientists have questioned the validity of such tests in recent years, but says that altogether the team's data "strongly imply" that the modified mice would perform better in functional tests.

Although it is too soon to say how these findings may relate to humans with DS, Haydar points out that humans also have Olig1 and Olig2, and the proteins derived from these genes perform similar functions in mice and humans. The researchers conclude in their paper that these genes may be useful as "biomarkers for the rational development of early interventional therapies of the cognitive impairments in DS."

Haydar also hopes that his team can use the results to begin searching for molecules that influence the expression of Olig1 and Olig2 in order to prevent the brain defects in DS mice. Such experiments could lead to new human treatments for cognitive impairment in DS, which is often the most debilitating aspect of the disorder.

"It's been a very tough nut to crack," Haydar says. Progress toward understanding the genetic basis for the defects in DS has been discouraging partly because of the large number of genes potentially involved, and also because so many things are changed, he explains. "That these two genes just by themselves do major things was a big surprise," he adds. "It gives us hope to unravel this mystery."

Diet & Nutrition Study

DSRF is doing a new study:

Nutritional Interventions in Children wtih Down's syndrome (NICDS study)

"Can nutritional intervention prevent or reduce the risks of associated diseases and illnesses in Down's syndrome?"

For more information on the study, here's a link ~

http://www.dsrf.co.uk/2007ResearchStudy/dietandnutrition.html

"The aim of this study is to see if nutritional interventions can help to prevent or reduce the risks that children with Down's Syndrome are exposed to in terms of illnesses such as type 2 diabetes, vascular disease, obesity, leukaemia and early onset dementia. Much is known about the ways in which nutrition and lifestyle can be modified to prevent, or at least reduce the risk of these disorders."

New Study showing Zinc Supplementation Should Be Given to Children with DS

Neat study . . . basically they found that in children with DS once they reached age 5 their blood zinc levels decreased. They are therefore suggesting that supplementation may be necessary after 5 years of age.

I know that zinc levels can be decreased at a younger age as well, so best be ahead of the game and check zinc levels regularly with the child's routine bloodwork.

Immunological patterns in young children with Down Syndrome: is there a temporal trend?

Cocchi G, Mastrocola M, Capelli M, Bastelli A, Vitali F, Corvaglia L.

Neonatology and Preventive Paediatric Department, University of Bologna, Bologna, Italy.

Down syndrome is associated with an increased susceptibility to infections due to a deficiency of both specific and nonspecific immunity. Aim: The aim of the study was to analyze the temporal trends, if any, of some variables related to the immunological status of children affected by Down syndrome. Methods: Heparinized blood samples were obtained by venipuncture in 30 children with Down syndrome, who were regularly followed in our department and analyzed for hematologic values, lymphocyte subpopulations, immunoglobulin dosage and zinc level. Results were compared with those of the normal population. Results: In the first 5 years of life, we observed a progressive decrease in the medium values of lymphocytes, CD4(+) and plasma zinc levels, and an increase in CD8(+), immunoglobulin A, immunoglobulin G, immunoglobulin M and natural killer, but generally without exceeding the interval of normality. Conclusions: In Down syndrome children, the immune cellular status is similar to the normal population as far as white blood cell, lymphocyte, CD4(+), CD8(+), natural killer and immunoglobulins are concerned. Plasma level of zinc is normal from birth until 5 years but with a temporal trend of progressive reduction. This observation supports the hypothesis that a pharmacological supplementation may be necessary in Down syndrome children only after 5 years of age.

PMID: 17727689 [PubMed - as supplied by publisher]