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Ehlers‐Danlos syndromes: Revised nosology, Villefranche, 1997
This work proposes a revision of the classification of the Ehlers-Danlos syndromes based primarily on the cause of each type based on major and minor diagnostic criteria defined for each type and complemented whenever possible with laboratory findings.
Lewy pathology in Parkinson’s disease consists of crowded organelles and lipid membranes
Using three-dimensional correlative light and electron microscopy of Lewy bodies and Lewy neurites in postmortem brains of Parkinson’s disease patients, researchers show that the major constituents are membranes rather than proteinaceous filaments.
Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type
Classic Ehlers-Danlos syndrome is a heritable connective tissue disorder characterized by skin hyperextensibility, fragile and soft skin, delayed wound healing with formation of atrophic scars, easy bruising, and generalized joint hypermobility, but it is now apparent that these form a continuum of clinical findings and differ only in phenotypic severity.
Bleeding and bruising in patients with Ehlers–Danlos syndrome and other collagen vascular disorders
Haematological studies including evaluation of clotting factors, platelet aggregation and bleeding time are usually normal in patients with EDS, except for the Hess test (Rumple–Leede test), which may be abnormal, indicating capillary fragility.
Joint position sense and vibratory perception sense in patients with Ehlers–Danlos syndrome type III (hypermobility type)
This is the first study examining proprioception deficits in EDS type III patients as defined by the Villefranche criteria and no significant correlation was found between JPS and VPS, neither at the knee nor at the shoulder joint.
Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial
Genetic Heterogeneity and Clinical Variability in Musculocontractural Ehlers–Danlos Syndrome Caused by Impaired Dermatan Sulfate Biosynthesis
The multisystemic abnormalities observed in patients support a tight spatiotemporal control of the balance between CS and DS, which is crucial for multiple processes including cell differentiation, organ development, cell migration, coagulation, and connective tissue integrity.
Ehlers-Danlos syndrome, classic type
Classic Ehlers-Danlos syndrome is a connective tissue disorder characterized by skin hyperextensibility, abnormal wound healing, and joint hypermobility that includes two previously designated subtypes that are now recognized to form a continuum of clinical findings.
Three new families with arterial tortuosity syndrome
- M. Wessels, C. Catsman-Berrevoets, P. Willems
- Biology, MedicineAmerican journal of medical genetics. Part A
- 1 December 2004
Nine additional ATS patients from three consanguineous Moroccan families are described and a total of 35 patients with this uncommon condition are reviewed, suggesting that ATS is a connective tissue disorder.
The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2)
It is confirmed that Rin2 defects are associated with a distinct genodermatosis and underscore the involvement of RIN2 and its associated pathways in the pathogenesis of connective tissue disorders.