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.

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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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  • Ehlers-Danlos syndrome - Genetics Home Reference - NIH
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    Ehlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of these conditions, which range from mildly loose joints to life-threatening complications.…

  • Classical Ehlers-Danlos syndrome Genetic and Rare.
    Reply

    Ehlers-Danlos Syndrome Genetics of Ehlers-Danlos Syndrome; MeSH® Medical Subject Headings is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic. The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical.…

  • Ehlers Danlos Syndromes Toolkit - uk
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    The Ehlers-Danlos syndromes EDS are heritable connective tissue disorders affecting the quality of collagen in every part of the body. They were once considered to be very rare and only seen by rheumatologists. There are 13 types of Ehlers-Danlos syndrome, most of which are indeed rare.…

  • Ehlers-Danlos syndrome - Doctors and departments - Mayo Clinic
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    Research and Clinical TrialsSee how Mayo Clinic research and clinical trials advance the science of medicine and improve patient care. Explore now. Education. See a list of publications on Ehlers-Danlos syndrome by Mayo Clinic doctors on PubMed, a service of the National Library of Medicine. By Mayo Clinic Staff.…

  • Ehlers-Danlos Syndrome, Hypermobility Type Research Papers.
    Reply

    The role of narrative medicine in the management of joint hypermobility syndrome/Ehlers–Danlos syndrome, hypermobility type Joint hypermobility syndrome/Ehlers–Danlos syndrome hypermobility type JHS/EDS-HT is a hereditary connective tissue disorder affecting every bodily system.…

  • Ehlers-Danlos syndrome - nih.gov
    Reply

    Ehlers-Danlos syndrome EDS is a generalized disorder of one element of connective tissue manifesting clinically by fragility and hyperelasticity of the skin and joint laxity. It is a hereditary disorder, the inheritance being usually autosomal dominant with low penetrance. Autosomal recessive and.…

  • PDF Hypermobile Ehlers Danlos Syndrome -
    Reply

    PDF Efforts on recognition, diagnosis and management of the presumed, most common connective tissue disorder, Hypermobile Ehlers Danlos syndrome have…

  • PDF Ehlers-Danlos syndrome - Share and discover research
    Reply

    PDF Ehlers-Danlos syndrome EDS is a generalized disorder of one element of connective tissue manifesting clinically by fragility and hyperelasticity of the skin and joint laxity. It is a.…

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