Supravalvular aortic stenosis (SVAS) is recognized in cases of Williams syndrome and in sporadic cases not associated with other features of the syndrome. It is also well recognized as associated with peripheral pulmonary stenosis (PPS). A male patient was diagnosed as having PPS at the age of 1 year and 8 months, and was found at the age of 18 years to have SVAS. Cardiac catheterization showed...

We are reporting a case of familial thoracic aortic aneurysm and dissection in a 26-year-old man with no significant past medical history and a family history of dissecting aortic aneurysm in his mother at the age of 40. The patient presented with cough, shortness of breath, and chest pain. Chest X-ray showed bilateral pulmonary infiltrates. CT scan of the chest showed a dissection of the ascen...

Cerebral cavernous malformation (CCM) is a vascular malformation characterized by abnormally enlarged capillary cavities without any intervening neural tissue. We report 2 cases of familial CCMs diagnosed with the CCM1 mutation by using a genetic assay. A 5-year-old boy presented with headache, vomiting, and seizure-like movements. Brain magnetic resonance imaging (MRI) revealed multiple CCM le...

[Purpose] The purpose of this study was to investigate the effect of thoracic stretching, a thoracic extension exercise and exercises for cervical and scapular posture on thoracic kyphosis angle and upper thoracic pain. [Subject] A 36-year-old male, who complained of upper thoracic pain at the T1-4 level with forward head and round shoulders, was the subject. [Methods] He performed thoracic str...

Limiting the success of breast cancer surgery in Bulgaria, sometimes diagnosis is very late. Genetic markers for breast cancer are not well known to the surgeons and they are not available for practical use. Appropriate psychological support is not available in every case, because the psychologists are not well informed about clinical and genetic aspects of the illness. There have been limited ...

Received 21 May 1996 and in revised form 2 September 1996 Accepted 9 September 1996 Background Amyotrophic lateral sclerosis (ALS) is a fatal disease in which degeneration of upper and lower motor neurons leads to progressive weakness of bulbar, limb, thoracic, and abdominal muscles with relative sparing of oculomotor muscles and sphincter function. Although the clinical manifestations and path...