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]

• Pallister-Hall Syndrome

  […] syndrome 14q11.2 microduplication syndrome 14q12 microdeletion syndrome Athyreosis Atypical Rett syndrome Thyroid hypoplasia Acrocallosal syndrome Camurati-Engelmann disease Cystic fibrosis Greig cephalopolysyndactyly syndrome Marfan syndrome type 2 Pallister-Hall [csbg.cnb.csic.es]

• Easy Bruising

  Patients with LDS2 are characterized by velvety translucent skin, easy bruising, widened atrophic scars, uterine rupture, severe peripartal bleedings, and arterial aneurysm/dissections throughout the arterial circulation. [emedicine.medscape.com]

  Cutaneous (translucent skin, easy bruising, wide scars) and craniofacial (hypertelorism, cleft palate/bifid uvula, craniosynostosis) features can also be variably present. Inheritance is autosomal dominant. [uwcpdx.org]

  Syndromic aortic aneurysms Hippocrates first described a clinical syndrome consistent with Ehler-Danlos and its accompanying easy bruising and bleeding as far back as 400 BC. [annalscts.com]

  Findings of hypertelorism (widely spaced eyes), bifid or split uvula, and skin findings such as easy bruising or abnormal scars may distinguish Loeys–Dietz from Marfan syndrome. [en.wikipedia.org]

• Skin Velvety

  velvety skin, or both). [ajnr.org]

  All probands with type II had at least two of the findings associated with vascular Ehlers–Danlos syndrome (visceral rupture, easy bruising, wide and atrophic scars, joint laxity, and translucent skin, velvety skin, or both). [nejm.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]