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• 01 / 15 / 2010

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After the study of more than 70 Cubans for the last 10 years, specialists from the Centre for Medical Genetics in Sancti Spiritus province have diagnosed 18 patients across the whole country suffering from Smith-Lemli-Opitz syndrome, through a project aimed at the diagnosis and genetic counselling in patients with the aforementioned illness.

One of the managers of the project, Dr. Diana Martin Garcia explained that "this disease is of low prevalence in Cuba and the world (although in some areas of Europe such as Czechoslovakia and Poland it is a little more common).

It is characterized by a deficiency in the synthesis of cholesterol in children and people with the disease are causes mental retardation, congenital malformations, as well as conduct disorder, malnutrition, among other things that make a major evolution of this disease. "

The doctor said that this project arose from the detection in the province of the first case. "At that moment there was a clinical diagnosis, but we had not the possibility of testing to confirm the suspicion.

We did not have at the time the analytical technology and It was established in the Provincial Centre of Medical Genetics, Sancti Spiritus biochemical diagnostic method.

The laboratory has been improving its techniques, and also from this study that was introduced in biochemical, began to make some mutations, in DNA that cause this disease. This is an advance from the point of view of the level of diagnosis of the
diseases that could be used in prenatal diagnosis.

The specialist of the Centre for Medical Genetics of Sancti Spiritus, Diana Martin Garcia, who is part of the team taking ahead the research, said that "the diagnosis of the Smith-Lemli-Opitz syndrome is essential to provide genetic counselling because it derives actions that form part of advice and risk of recurrence of such patients, since healthy couples who had a child with the disease is likely in 25 percent of this happening again. "

"When disease is confirmed, they explained to parents everything related to the pathology. The patients also received by the national medical diary, a diet that provides the nutrients required for its treatment.

The Health Ministry has also taken medications used to treat these patients. In turn, patients receive comprehensive care that includes educational psychology, rehabilitation and other care in several fields.

Apart from the project "Diagnosis and Genetic Counselling in the Smith-Lemli-Opitz", specialists in Medical Genetics of Sancti Spiritus develop further studies for improving the quality of life of people, especially pregnant women and children.

Source: www.radiosanctispiritus.cu