The book presents detailed information for both basic scientists and for clinicians seeing patients. [books.google.com]

In addition, within the HMS/EDS-HT phenotype, there is a high prevalence of psychosocial factors, which again presents a difficult issue that needs to be addressed (Challenge 3). [dovepress.com]

E hlers-Danlos syndrome (EDS) is a hereditary collagen disease presenting primarily as dermatological and joint disorders. [cda-adc.ca]

Type 1 typically presents with severe skin involvement, and type 2 presents with mild to moderate skin involvement. 130000, 130010 COL5A1, COL5A2, COL1A1 Vascular type 4 Is an autosomal dominant defect in the type-III collagen synthesis; affecting approximately [intelligentdental.com]

Presentation Most types of EDS present with symptoms affecting skin and joints. However, many systems can be affected. [patient.info]

(October 2018 editor’s note: I used to have another pre-diagnostic medical workup page linked from The Coalition Against Pediatric Pain here too, but it seems to have been deleted, sorry!) [ohtwist.com]

In lack of diagnosis, these patients are also excluded from new forms of emerging treatments (orthesis, oxygen therapy, local proprioceptive pains treatments, adapted physical therapy...) and often victims of iatrogenia. [omicsonline.org]

Current research activities include: heart disease in adult osteogenesis imperfecta, the effect of nutrition on bone growth in osteogenesis imperfecta, osteoporosis in Rett syndrome and a study of the effects of bisphosphonate treatment during microgravity [books.google.com]

This may account for the delay in getting a proper diagnosis and treatment, as studies have repeatedly shown the medical community is not as educated on — and therefore much more likely to misdiagnose and disregard — health issues that impact women. [health.harvard.edu]

The information in this article should not be considered as professional medical advice, diagnosis or treatment. It is for informational purposes only and represents the author’s opinions alone. [chronicpainpartners.com]

The prognosis with this type is poor. Sudden death can occur after visceral perforation or after the rupture of a large vessel, most commonly an abdominal and splenic vessel. [emedicine.medscape.com]

The earlier interventions are in place, the better a child’s prognosis is. [complexchild.org]

Some individuals have mitral valve prolapse, which creates an increased risk for infective endocarditis during surgery, particularly dental surgery, as well as possibly progressing to a life-threatening degree of severity of the prognosis of mitral valve [wikidoc.org]

Prognosis in the Ehlers Danlos syndromes [ 7 ] Prognosis will vary with the type and the severity. Lifespan is usually normal, with the exception of the vascular type. [patient.info]

[…] have cardiac abnormalities Mitral valve prolapse Aortic root dilation with occasional rupture Scoliosis Pes planus (flatfoot) Molluscoid pseudotumors (calcified hematomas) may be associated with scars Inheritance Autosomal dominant single-gene disorder Etiology [en.wikibooks.org]

Etiology The syndrome appears to be genetically heterogeneous. However, analysis of several patients has led to the identification of a potential gene locus on chromosome 12p13. [rarediseases.info.nih.gov]

Ongoing controversies regarding etiology, diagnosis, treatment Neurosurgical complications, including Chiari malformation, craniocervical instability and cervical instability, as well as occult tethered cord, have only recently been associated with Ehlers-Danlos [clinicaladvisor.com]

(Etiology) Ehlers-Danlos Syndrome, Dermatosparaxis Type is caused by mutation(s) in the ADAMTS2 gene: The ADAMTS2 gene codes for the enzyme called “disintegrin and metalloproteinase with thrombospondin motifs-2” or ADAMTS2 enzyme This enzyme catalyzes [dovemed.com]

The etiology is multifactorial, including infections, tobacco smoking and poor socio-economic factors [ 22, 23 ]. In pregnancy, the membranes surrounding the amniotic cavity correspond to the amnion and chorion. [hoajonline.com]

A brief history of the disease is presented along with the epidemiology and characteristics of the 8 main phenotypes of the syndrome. [cda-adc.ca]

A major review of clinical and genetic features of vascular EDS with epidemiologic data. PubMed CrossRef Google Scholar 2. Germain DP, Herrera-Guzman Y: Clinical and genetic features of vascular Ehlers-Danlos syndrome. Ann Genet 2004, 47 :1–9. [link.springer.com]

Epidemiology and Demographics The overall prevalence of all types of Ehlers-Danlos syndrome may be about 1 in 5,000 births worldwide. The prevalence of the six types differs dramatically. [wikidoc.org]

Research output : Contribution to journal › Article A multicentre study on epidemiology and prevention of needle stick injuries among students of nursing schools Veronesi, L., Giudice, L., Agodi, A., Arrigoni, C., Baldovin, T., Barchitta, M., Benedetti [moh-it.pure.elsevier.com]

Epidemiology Frequency The prevalence of Ehlers-Danlos syndrome (EDS) is reported to be 1 case in approximately 400,000 people, but mild or incomplete forms appear to be underdiagnosed and more common than other forms. [emedicine.medscape.com]

This new set of data explains, at least in part, why many of these disorders are interconnected, though the primary pathophysiological events, such as gene mutations, may be different for each disorder. [books.google.com]

CCA is a rare condition, and there is limited understanding of its pathophysiology and treatment options. [acgcasereports.gi.org]

Reflections on the pathophysiology We estimate that the alteration in proprioception plays a large part in the clinical manifestation of EDS. [symbiosisonlinepublishing.com]

Pathophysiology: There are three different mechanisms by which EDS traits are produced 6. The first of these features is a deficiency of collagen-producing enzymes, such as lysyl-hydroxylase and procollagen peptidase. [rarediseasesindia.org]

武田憲文 ４） 和文総説「大動脈解離・大動脈瘤」 診断と治療 106(2):215-220, 2018（診断と治療社） 原弘典、武田憲文 【2016年】 １）英文総説 「Pathophysiology and Management of Cardiovascular Manifestations in Marfan and Loeys-Dietz Syndromes」Int Heart J. 2016;57(3):271-7. [square.umin.ac.jp]

So, instead, I have spent the past eleven years attempting to help prevent others from having to replicate my experience. I simply wish to assist other EDS patients avoid some of the uncertainty and stress that I was forced to experience. [chronicpainpartners.com]

Ehlers-Danlos syndrome Department of Pedodontics and Preventive Dentistry, Dr. [jdrr.org]

Ehlers-Danlos Syndrome, Dermatosparaxis Type is a genetic disorder, and currently, there are no methods or guidelines available to prevent its occurrence. [dovemed.com]

Dominant mutations in COL1A1 and COL1A2 can prevent cleavage and cause arthrochalasia, while recessive loss of the N -procollagen peptidase cause dermatosparaxis. (V) Collagen molecules self-assemble into heterotypic fibrils. [jci.org]

If you have vascular or regular EDS with severe symptoms that prevent you from working, you may be able to get disability. [disabilitysecrets.com]