Release date: 2016-05-27
Recent research shows that extensive genetic analysis may be helpful for children with stunting and hopefully help them find the cause of the disability.
Canadian researchers conducted a precise genetic analysis of 10 children with unexplained developmental delays and found out why 7 of them were stunted.
In many cases, genetic analysis will have breakthrough discoveries. The researchers identified 11 new disease-causing genes associated with stunting and described new physiological features and symptoms of many known diseases.
Dr. Clara van Karnebeek, a pediatrician and biochemical geneticist at Columbia University Children's Hospital and a senior researcher at the Center for Molecular Medicine and Therapy at Columbia University, said that based on this new genetic diagnosis, doctors can give 10 patients 4 of them were targeted for treatment. Genetic analysis can lead to more precise clinical practice and, most importantly, treatment outcomes for these children may be better, and if not diagnosed, these children may experience severe disability and never have an opportunity for improvement. In many cases, you can improve your child's condition by taking Vitamin supplements or improving diet or medication.
These findings have been published in the May 25th issue of the New England Journal of Medicine.
In the study, Dr. van Karnebeek and his team focused on children with developmental delays associated with metabolic problems, mainly because cells in the body are difficult to convert proteins, carbohydrates and fats into energy.
Researchers provide background information: genetic problems that cause energy deficits and accumulation of toxins in the brain and body are rare, and these problems can lead to slow development of the body and cognitive abilities and other diseases.
The researchers convened 41 children with developmental delays, including walking and language retardation, as well as more serious problems such as epilepsy or autism.
The researchers used traditional urine and blood tests to screen 90 children with known metabolic disorders associated with developmental delays and found that these children did not have these known diseases based on these tests.
The researchers also analyzed the exon of these children, which is the genetic structure that directs the synthesis of key proteins in body function.
According to Dr. van Karnebeek, these children have problems with their metabolism in addition to stunting. So we started looking for a needle in a haystack and looking for a single DNA change that could explain stunting and metabolic problems. Thanks to the results of the genetic analysis, researchers can help 17 of 41 children find treatments that directly address their genetic problems. One of the mothers explained the changes in her son before and after treatment. Before treatment, he hits his head many times a day and hurts himself. After the treatment, he calmed down and could go home to have dinner with his family to watch TV. Genetic analysis of this type is available in many university medical centers and commercial laboratories to help children with developmental problems.
However, genetic screening is now somewhat expensive and typically costs thousands of dollars.
Dr. Edward McCabe, Chief Medical Officer of the Birth Defects Foundation, called the study an admirable study, and as the price of sequencing decreases, we need this method to determine the cause of developmental disorders in these patients.
The American Institute of Health has conducted an inability to diagnose disease projects with the aim of using similar genetic analysis to help patients with difficult-to-diagnose diseases. This project builds a network of medical centers in the United States that can conduct deep genetic assessments. This is the way of medical practice, and I should know that there are many genes that we cannot find the diseases associated with them. This is very important. We understand that patients usually have two abnormalities at the same time, which is difficult for doctors to judge. Using gene sequencing technology, we can provide an accurate diagnosis for individuals like never before.
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Source: Kexun Medical Network
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