MARFAN-SYNDROME
The Characteristics of Acute Aortic Dissection among Young Chinese Patients: A Comparison between Marfan Syndrome and Non Marfan Syndrome Patients
... between Marfan syndrome and non-Marfan syndrome patients was ...with Marfan syndrome developed acute AoD at a younger age than patients without Marfan ...with ...
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Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review
... Marfan syndrome affects the skeletal, ocular, and cardio- vascular systems, as well as the skin, lungs and dura. There is tremendous phenotypic variability in terms of age of presentation (particularly in ...
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A prospective, randomized, placebo controlled, double blind, multicenter study of the effects of irbesartan on aortic dilatation in Marfan syndrome (AIMS trial): study protocol
... in Marfan syndrome (MFS), a dominantly inherited disorder caused by mutations in the gene that encodes ...in Marfan syndrome. Methods/Design: The Aortic Irbesartan Marfan Study (AIMS) ...
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Irbesartan in Marfan syndrome (AIMS) : a double blind, placebo controlled randomised trial
... Methods We did a placebo-controlled, double-blind randomised trial at 22 centres in the UK. Individuals aged 6–40 years with clinically confirmed Marfan syndrome were eligible for inclusion. Study ...
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Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms
... Pulse-chase studies of [35S]cysteine-labeled fibrillin were performed on fibroblast strains from 55 patients with Marfan syndrome (MFS), including 13 with identified mutations in the fibrillin-1 gene and 10 ...
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The effects of acute and elective cardiac surgery on the anxiety traits of patients with Marfan syndrome
... of Marfan syndrome were established in case of each pa- tient by systematically assessing the presence or absence of aortic involvement (either aortic dilation or dissec- tion), ectopia lentis, positive ...
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Prevalence of Intracranial Aneurysms in Patients with Connective Tissue Diseases: A Retrospective Study
... To our knowledge, our study repre- sents the largest imaging study to date examining the prevalence of intracranial aneurysms in Marfan syndrome and EDS. Distinct from prior studies, all pa- tients in our ...
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Severe Generalized Spinal Cord Atrophy and Marfan Syndrome: A Case Report
... Generalized spinal cord atrophy is rare. Several causes can be found responsible for this entity. Marfan syndrome (MS) is a clinically and allelically heterogeneous, heritable connective tissue disorder. ...
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Abnormal muscle mechanosignaling triggers cardiomyopathy in mice with Marfan syndrome
... in Marfan syndrome (MFS), a relatively common disease of the connective tissue due to mutations that alter the structure or decrease the expression of the ECM protein and TGF-β regulator fibrillin 1 ...
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Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome
... Marfan syndrome is a connective tissue disorder caused by mutations in the gene encoding fibrillin-1 (FBN1). A dominant-negative mechanism has been inferred based upon dominant inheritance, mulitimer- ...
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TGF β in the pathogenesis and prevention of disease: a matter of aneurysmic proportions
... TGF-b regulates many aspects of cellular performance relevant to tissue morphogenesis and homeostasis. Postnatal perturbation of TGF-b signaling contributes to the pathogenesis of many disease states, as recently ...
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TGF β–dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome
... Mitral valve prolapse (MVP) is a common human phenotype, yet little is known about the pathogenesis of this condition. MVP can occur in the context of genetic syndromes, including Marfan syndrome (MFS), an ...
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Deregulated microRNA and mRNA expression profiles in the peripheral blood of patients with Marfan syndrome
... Marfan syndrome (MFS, OMIM #154700) is a con- nective tissue disorder with an estimated incidence of 1:5000 individuals, across all ethnic backgrounds [1, ...of Marfan-related cardiovascular ...
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Losartan therapy in adults with Marfan syndrome: study protocol of the multi center randomized controlled COMPARE trial
... 12. Faivre L, Collod-Beroud G, Loeys BL, Child A, Binquet C, Gautier E, Callewaert B, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Marziliano N, Dietz HC, Halliday D, Beroud C, Bonithon-Kopp C, ...
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The Beneficial Effect of Renin Angiotensin Aldosterone System Blockade in Marfan Syndrome Patients after Aortic Root Replacement
... blockade are attracting much attention in MFS due to their ability to modulate excessive TGF-β signaling. There are sev- eral experimental evidences that supports the superiority of ARB, selective angiotensin II receptor ...
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Arterial mechanical properties after replacement or reconstruction of the aortic root
... We performed applanation tonometry in all patients with classical Marfan syndrome who underwent AVR or CVG ≥ 3 months prior to tonometry. All patients were left on standard medication during applanation ...
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Accuracy of pedicle screw placement in patients with Marfan syndrome
... in Marfan syndrome because it can purchase on the pedicle and vertebral body even when the lamina is too fragile to be anchored in deformed ...in Marfan syndrome featuring dystrophic pedicle ...
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Marfan syndrome and mitral valve prolapse
... including Marfan syndrome, Ehler-Danlos syndrome, osteo- genesis imperfecta, dominant cutis laxa pseudoxanthoma elasticum, and the MASS syndrome (mitral valve prolapse, aortic root dilatation, ...
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Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts
... the Marfan syndrome in the majority of individuals (confirming recent immunohistochemical and genetic linkage studies) and that a variety of mutations can produce the phenotype associated with the ...
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Dural Ectasia in Marfan Syndrome: A Case Control Study
... of Marfan Syndrome and Other Marfanlike Conditions, asking for persons having the diagnosis of MFS; or through invitations distributed in the Department of Tho- racic and Cardiovascular Surgery at our ...
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