Thoracic aortic aneurysm (TAA) is a lethal disease, with a natural history of enlarging progressively until dissection or rupture occurs. Since the discovery almost 20 years ago that ascending TAAs are highly familial, our understanding of the genetics of thoracic aortic aneurysm and dissection (TAAD) has increased exponentially. At least 29 genes have been shown to be associated with the devel...

A 46-year-old man presented with a lateral thoracic meningocele associated with cutaneous neurofibromatosis type I and kyphoscoliosis of the thoracic spine upon medical examination. In the majority of such cases, these meningoceles remain asymptomatic, but surgery is indicated when giant or symptomatic cysts are present. The large thoracic meningocele was successfully extirpated through the tra...

background: in northeastern iran there is an area of high incidence of esophageal cancer which is populated by residents of turkmen ancestry. several environmental risk factors for esophageal cancer have been proposed, but the roles of familial and genetic factors have not been studied extensively in the turkmen population. materials and methods: we evaluated the importance of familial risk fac...

introduction: due to the whole network of polyposis registers worldwide and early prophylactic treatment, survival of familial adenomatosis (fap) patients is improved. extracolonic manifestations are remarkable feature of fap. two extracolonic manifestations (duodenal adenomatosis, leading duodenal cancer and desmoid tumours) play a very important role in the reasons of death in polyposis popul...

we present 2 cases of likely rare event. in case 1, 3rd degree consanguineous marriage revealed inv(6) with same break points in parents who were found to be phenotypically normal. the same inv(6) being inherited in progeny but presented with low amh (anti mullerian hormone) and high level of fsh (follicular stimulating hormone) leading to polycystic ovarian syndrome/premature ovarian failure. ...

abstract traumatic descending thoracic aorta pseudo aneurysms have been treated traditionally with open surgery in the past, which have had noticeable rates of mortality and morbidity. a safer method of treatment for this disease is made possible with recent progress in endovascular treatment techniques. in this article, we present three cases of traumatic descending thoracic aorta pseudo aneur...

objectives: the aims of this study were to evaluate the efficacy of conservative treatment in patients with and without cervical ribs and thoracic outlet syndrome (tos). from so many kinds of conservative treatment in literature, we used a multidisciplinary approach (correction of posture, maximizing muscle endurance and power, stretch shorten muscles, massage for trigger points and maximize th...

Elevated plasminogen activator inhibitor-1 (PAI-1) and fibrinogen concentrations are risk factors for coronary heart disease. We investigated environmental, familial, and genetic influences on PAI-1 antigen and fibrinogen concentrations in 2029 adults from 512 randomly ascertained families in 4 US communities. We used maximum-likelihood segregation analysis to fit several genetic and nongenetic...

Asphyxiating thoracic dystrophy of the newborn is a rare skeletal abnormality. Though the disease is generalized in distribution, the cartilaginous thoracic cage bears the brunt, with the results that the chest is narrow and immobile. The outcome is usually fatal early in the neonatal period. Less frequently the patients survive with severely impaired respiratory function only to succumb to rep...