نتایج جستجو برای: familial thoracic 1
تعداد نتایج: 2838295 فیلتر نتایج به سال:
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...
Aortic aneurysms and aortic dissections account for ~16,000 deaths in the United States annually (Kuivaniemi, et al., 2008). Recent evidence suggests that enhanced vascular inflammation underlies the progression of both abdominal aortic aneurysms and thoracic aortic aneurysms (Guo, et al., 2006a). Common pathologic features of vascular inflammation and aneurysmal disease include recruitment and...
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BACKGROUND Aneurysms and dissections affecting the ascending aorta are associated primarily with degeneration of the aortic media, called medial necrosis. Families identified with dominant inheritance of thoracic aortic aneurysms and dissections (TAA/dissections) indicate that single gene mutations can cause medial necrosis in the absence of an associated syndrome. METHODS AND RESULTS Fifteen...
Abnormalities of the aorta and great vessels were assessed from surface renderings and virtual angioscopy by three radiologists blinded to the clinical history. Wall irregularity was scored on a scale of 0 (normal) to 4 (abnormal). Scores of 2 or more (average readings for the three radiologists) were considered to be indicative of pathology. The incremental value of virtual endoscopic views ov...
We explored the concept that transesophageal echocardiography can be used as a tool to detect, characterize, and study plaque morphology in the descending thoracic aorta. The pattern of atherosclerotic plaques in the descending thoracic aorta in familial hypercholesterolemic (FH) patients was evaluated. Additionally, evolution of plaque characteristics as a result of therapy was analyzed. In a ...
BACKGROUND ACTA2 mutations are the major cause of familial thoracic aortic aneurysms and dissections. We sought to characterize these aortic diseases in a large case series of individuals with ACTA2 mutations. METHODS AND RESULTS Aortic disease, management, and outcome associated with the first aortic event (aortic dissection or aneurysm repair) were abstracted from the medical records of 277...
A 45-year-old woman without medical history of cardiovascular disease came to the clinic. She was diagnosed as annuloectasia and aneurysm of ascending aorta and dissected aorta from above the aortic valve to renal artery level (type A). There are no laboratory abnormalities including CBC, biochemistry, and serology tests etc. She does not have any Marfanoid features. Surprisingly, when we revie...
Several mvestlgators hétve suggested that "upper" neural tube defects (NTD's) anencephaly, encephalocele, and thoracic spina blfida. are etiologica!ly dlfferent from "Iower" NTD's (Iumbo-sacral spina bifida) This hypothesis was primarily based on the observations that the two types have different sex ratios and recurrence rates and that the NTD cases within one sibship are concordant for NTD ty...
The autosomal dominant inheritance of bicommissural aortic valve (BAV) (Online Mendelian Inheritance in Man #109730) in some families is well-documented; however, the inheritance of BAV with thoracic aortic aneurysm (TAA) is less clear. Whether the aneurysm is secondary to hemodynamic perturbation related to the valve abnormality or a primary manifestation of the disorder remains controversial....
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