Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 11 of 11 for “"Ehlers-Danlos syndrome"”.
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Investigation into the Ehlers-Danlos syndrome
… confusion in diagnosis of what is now called the Ehlers-Danlos syndrome. In 1682 Meekrin described the case of a Spaniard who could make his skin stretch to an enormous extent, and appears to have confused the Ehlers-Danlos syndrome with the condition of cutis laxa. No further significant …
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Characterization of aortic carboxypeptidase-like protein mutations that cause Ehlers-Danlos syndrome
Ehlers-Danlos Syndrome (EDS) is a hereditary connective tissue disease that can cause a wide range of symptoms throughout the body. There are currently 14 different subtypes of EDS based on the molecular genetics of the disease with many subtypes due to mutations in collagen genes. Classical-like …
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Think ‘Zebra’
… the systemic barriers to research and diagnosis. Ehlers-Danlos Syndrome (EDS) has thirteen subtypes, and, to date, all but one have at least one identified genetic marker. In 2021, researchers at the Medical University of South Carolina announced they may have found the first genetic marker for …
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Computational and experimental studies of collagen and related diseases
… are done on mutant peptides of collagen from the Ehlers-Danlos Syndrome type IV.
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Psychological aspects of parenting in at-risk groups
… the experiences of parenting a child with Ehlers-Danlos Syndrome Abstract - Background: Ehlers-Danlos Syndrome (EDS) is a complex, rare and relatively unknown group of connective tissue disorders that can have a significant effect on an individual’s physical, psychological, social and …
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Visuomotor Learning and Proprioception Across Development
… Proprioception is suspected to be impaired in Ehlers-Danlos syndrome (EDS), a group of inherited connective tissue diseases where the most common symptoms are joint hypermobility and chronic pain. In Chapter 2 I explored sensitivity of hand proprioception in EDS as a function of disease …
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The Diagnostic Odyssey of Hypermobile Eds Patients: Diagnosis, Clinical Expectations, and Psychosocial Concerns
<p>Background: Ehlers-Danlos syndrome (EDS) is a highly variable, heritable connective tissue disorder. Hypermobile EDS (hEDS) is the most common subtype of EDS and has no identifiable underlying genetic etiology. Patients with clinical features of hEDS face a long diagnostic odyssey due to lack of …
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Vascular Injury In Col3A1+/- Mice Model of Vascular Ehler-Danlos Syndrome
<p>Vascular type of Ehlers-Danlos Syndrome (vEDS) is an inherited cardiovascular disease affecting the middle to large sized arteries, with an incidence rate of 1/5000. vEDS patients also show a significant phenotype of easily bruised skin, indicating aberrant wound healing and injury repair …
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Delayed Thrombus Resolution and Fibroproliferative Vascular Wound Healing From Deficiency of Type Iii Collagen: A Paradoxical Mechanism For Tissue Fragility
<p>Vascular Ehlers-Danlos syndrome is a heritable disease of connective tissue caused by mutations in <em>COL3A1</em>, conferring a tissue deficiency of type III collagen. Cutaneous wounds heal poorly in these patients, and they are susceptible to spontaneous and catastrophic rupture of expansible …
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Intrinsic and extrinsic factors associated with range of motion (ROM) with an emphasis on a novel genetic factor
… Mutations within the COL5A1 gene cause classic Ehlers-Danlos Syndrome (EDS) which present with, among other clinical signs, generalised joint hypermobility. Furthermore, a COL5A1 gene sequence variant, the BstUI Restriction Fragment Length Polymorphism (RFLP), has previously been shown to be …
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Cardiovascular, autonomic and neuropathic physiology and their involvement in the extra-articular manifestations of hypermobility disorders
… limited knowledge surrounding hypermobile Ehlers-Danlos Syndrome (hEDS (2017) (3), EDS Hypermobility Type (Villefranche 1998) (4), EDS III (Berlin 1988) (5)) and the less severe Hypermobility Spectrum Disorders (HSD (2017) (6), benign joint hypermobility syndrome (BJHS/JHS) (7)). In …