CONCLUSION: The authors provide further insight into the phenotype of AOS with SMAD3 mutations, and present recommendations for a clinical work-up. [ncbi.nlm.nih.gov]

Conclusion The authors provide further insight into the phenotype of AOS with SMAD3 mutations, and present recommendations for a clinical work-up. [jmg.bmj.com]

Through echocardiographic evaluation and detailed medical history, we estimate that up to 20 % of patients presenting with a spontaneous CSF leak may have some type of cardiovascular abnormality. [spinalcsfleak.org]

In 68% of patients, arterial aneurysms were present, predominantly (87%) in the aortic root. In 11% multiple aneurysms were found and 46% showed arterial tortuosity throughout thorax and abdomen. [circ.ahajournals.org]

Methods All SMAD3 gene mutation carriers coming to our centre and their families were investigated prospectively with a structured panel including standardized clinical workup, blood tests, total body computed tomography, joint X-rays. [journals.plos.org]

Treatment options 7a. Optimal cardiovascular medical treatment (Losartan etc.) 7b. Cardiothoracic surgical experience 7c. Vascular interventions and surgical experience 7d. Orthopedic treatment options 7e. Genetic counseling 7f. [elsevier.com]

We report here the in vitro induction of SMAD3 mRNA and protein by therapeutic levels of 13-CRA and suggest further investigation of this modality for the treatment of AOS. [ruor.uottawa.ca]

Imaging diagnostics using three-dimensional CTA or MRA reconstructions may be useful in planning treatment. [ncbi.nlm.nih.gov]

Guidelines 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases Google Scholar Copyright information Springer-Verlag London 2016 Authors and Affiliations Vincent E. Friedewald 1 1. [link.springer.com]

Symptoms resolved gradually without treatment. A positive family history of ascending aortic aneurysm led physicians to order an echocardiogram, which was normal. [spinalcsfleak.org]

In cancer cells, however, it often promotes metastasis, and its high expression is correlated with poor prognosis. [biochemj.org]

At present, availability of different diagnostic aids has turned the prognosis highly favorable ( 1 ), however, many patients still cannot get effective medical treatment. [spandidos-publications.com]

The relationship between mitral valve morphology and prognosis in patients with mitral valve prolapse: a prospective echocardiographic study of 568 patients [abstr]. J Am Soc Echocardiogr. 1993. 6:S8. Nishimura RA, McGoon MD. [emedicine.medscape.com]

Loss of expression of transforming growth factor-β receptors is associated with poor prognosis in prostate cancer patients. Clin. Cancer Res., 4 : 1625 -1630, 1998. Guo Y., Kyprianou N. [cancerres.aacrjournals.org]

Introduction Our laboratory is primarily interested in the clinical expression and molecular etiology of human aortic aneurysm. [massgeneral.org]

A single study could be underpowered because of sample size, diversity inheritance of the heterogeneous and complex OA etiology, different ethnicities, clinical heterogeneity, and so on. [bioscirep.org]

PHYSIOLOGICAL CONSIDERATIONS OF INTRACRANIAL ANEURYSMS: An aneurysm represents a structural defect of the artery wall characterized by a reduction in the middle muscular layer of unknown etiology, but which probably results from a combination of genetic [jemds.com]

Etiology of clinically isolated, severe, chronic, pure mitral regurgitation: analysis of 97 patients over 30 years of age having mitral valve replacement. Am Heart J. 1982 Aug. 104 (2 Pt 1):276-88. [Medline]. Verma S, Mesana TG. [emedicine.medscape.com]

SMAD3 TGFβ aortic aneurysm arterial tortuosity osteoarthritis clinical genetics cardiovascular medicine connective tissue disease congenital heart disease diagnosis diagnostics diagnostics tests epidemiology osteoarthritis molecular genetics osteoporosis [jmg.bmj.com]

Epidemiological studies suggested that OA has a strong genetic component. [bioscirep.org]

Likewise, strenuous physical activity is discouraged in patients, especially weight lifting and contact sports. [ citation needed ] Epidemiology [ edit ] The incidence of Loeys–Dietz syndrome is unknown; however, Type 1 and 2 appear to be the most common [en.wikipedia.org]

Epidemiology of aortic aneurysms: I. Mortality trends in the United States, 1951 to 1981. Arteriosclerosis 7, 637–643 (1987). 5. Loeys, B.L. et al. [nature.com]

Epidemiologic features: the Framingham Study. Am Heart J. 1983 Sep. 106(3):571-6. [Medline]. Savage DD, Levy D, Garrison RJ, Castelli WP, Kligfield P, Devereux RB. Mitral valve prolapse in the general population. 3. [emedicine.medscape.com]

We are interested in the common pathophysiologic events leading to aortic aneurysm in syndromic and nonsyndromic human conditions. [massgeneral.org]

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Marfan syndrome (MFS) is an autosomal dominant genetic disorder affecting the connective tissue that occurs in approximately [mayomedicallaboratories.com]

[…] chondrocytes in articular cartilage, and expression by chondrocytes in vitro is increased following exposure to TGFβ1. 18 Also, TIMP-3 deficiency in mice results in cartilage degradation similar to changes seen in patients with OA, indicating TIMP-3 may play a pathophysiologic [bmjopen.bmj.com]

Because the pathophysiology of MYLK mutations is that of dissections and not aneurysms, it is difficult to counsel as to the time of intervention ( 37 ). [annalscts.com]

To prevent rupture, elective aneurysm repair should be considered in any visceral or iliac artery aneurysm that exceeds twice the expected arterial diameter or grows rapidly. [ncbi.nlm.nih.gov]

Posterior cruciate ligament (PCL) - prevents forward sliding of the femur in relation to the tibial plateau. [patient.info]

This allows for early medical interventions and early prophylactic surgery that prevents aortic dissection and rupture and leads to improved health outcomes. [barnabashealth.org]

Tiny platinum coils, about a hairs-breadth or less in diameter, are threaded through the catheter and deployed into the aneurysm, blocking blood flow into the aneurysm and preventing rupture. [malikneurospine.com]