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The revised Ghent nosology for the Marfan syndrome
A revised Ghent nosology is established, which puts more weight on the cardiovascular manifestations and in which aortic root aneurysm and ectopia lentis are the cardinal clinical features and may delay a definitive diagnosis of MFS but will decrease the risk of premature or misdiagnosis. Expand
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
Genotyping of patients presenting with symptoms like those of vascular Ehlers-Danlos syndrome may be used to guide therapy, including the use and timing of prophylactic vascular surgery. Expand
International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia
The goal of this international HHT guidelines process was to develop evidence-informed consensus guidelines regarding the diagnosis of HHT and the prevention of H HT-related complications and treatment of symptomatic disease. Expand
Revised diagnostic criteria for the Marfan syndrome.
More stringent requirements for diagnosis of the Marfan syndrome in relatives of an unequivocally affected individual; skeletal involvement as a major criterion if at least 4 of 8 typical skeletal manifestations are present; and potential contribution of molecular analysis to the diagnosis of Marfan Syndrome are proposed. Expand
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
Fibrillin is implicate as the protein defective in patients with the Marfan syndrome and a de novo missense mutation in the fibrillin gene is described in two patients with sporadic disease. Expand
The natural history of homocystinuria due to cystathionine beta-synthase deficiency.
An international questionnaire survey has been conducted to define better the natural history of homocystinuria due to cystathionine beta-synthase deficiency and permit evaluation of treatment. DataExpand
Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor
An additional cohort of 40 patients who had vascular Ehlers–Danlos syndrome without the characteristic type III collagen abnormalities or the craniofacial features of the Loeys–Dietz syndrome were screened and a mutation in TGFBR1 or TGF BR2 was found. Expand
Transplantability and therapeutic effects of bone marrow-derived mesenchymal cells in children with osteogenesis imperfecta
Improvements in total body bone mineral content and growth velocity were associated with increases in growth velocity and reduced frequencies of bone fracture, indicating the feasibility of allogeneic bone marrow transplantation in the treatment of osteogenesis imperfecta and perhaps other mesenchymal stem cell disorders as well. Expand
Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.
The results indicate that heterozygous ACTA2 mutations predispose patients to a variety of diffuse and diverse vascular diseases, including TAAD, premature CAD, ischemic strokes, and MMD and have direct implications for clinical management and research on familial vascular diseases. Expand
The Marfan syndrome.
Although the prognosis for a person with the Marfan syndrome is much more favorable than it was a decade ago, this remains a serious and burdensome condition. Early diagnosis is essential and isExpand