Research Paper On Ehlers Danlos Syndrome

Research Paper On Ehlers Danlos Syndrome-84
People with lax joints and multiple scars were first described in the medical writings of Hippocrates, dating back to 400 BCE. His work reports the first detailed clinical description of EDS.

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NOTE: Results of this study will not be disclosed to subjects.

Medical records from other institutions and clinical notes for visits in Dr.

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. We are planning to collected blood and saliva for DNA extraction to use for genetic testing of children and adults with EDS and their relatives.

Listing a study does not mean it has been evaluated by the U. Medical records from other institutions and clinical notes for visits in Dr.

Depending on the type, EDS can be diagnosed through laboratory studies or clinical examination.

Once the syndrome has been diagnosed, preventative measures should be taken. Tschernogobow, a Russian dermatologist, presented 2 case studies of patients to the Moscow Venereology and Dermatology Society who had marked loose fragile skin, and hypermobile large joints.Detailed information on how Wiley uses cookies can be found in our Privacy Policy.Ehlers-Danlos syndrome (EDS) consists of a group of inherited heterogeneous disorders that share a common decrease in the tensile strength and integrity of the skin, joints, and other connective tissues.The purpose is that if they are comparable, we will be able to use saliva in place of blood as it easier method for accessing a person's DNA.This will be especially helpful for evaluating infants or those patients who prefer not to have a blood sample drawn.However, within the Ehlers–Danlos spectrum, a similar subcategory of patients having similar clinical features as HMS but lacking a specific genetic profile was identified: Ehlers–Danlos syndrome hypermobility type (EDS-HT).Researchers and clinicians have struggled for decades with the highly diverse clinical presentation within the HMS and EDS-HT phenotypes (Challenge 1) and the lack of understanding of the pathological mechanisms that underlie the development of pain and its persistence (Challenge 2).Some patients with EDS can demonstrate amazing, almost unnatural, contortions, often arousing the curiosity of onlookers.Niccolo Paganini (1782-1840) the famous Italian violinist, who was capable of miraculous feats in his playing owing to his hypermobile and loose joints, had phenotypic traits of EDS.No clinical intervention/randomizations will be performed. After validation by Sanger sequencing for these variations, we plan to prepare a genetic panel for EDS.After all validation testing, we plan to evaluate the saliva DNA in a similar manner and compare the results with those obtained from the DNA from the blood sample.


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