No abstract available.

BACKGROUND: Williams syndrome is characterized by supravalvular aortic stenosis, mental retardation and peculiar facial appearance. Its genetic etiology is considered to be hemizygotic deletion in Chromosome 7q11.23 which includes the elastin gene. We examined the deletion in Korean Williams syndrome patients and their parents. MATERIALS AND METHOD: Sixteen patients were selected through careful clinical examination including echocardiography and cardiac angiography. Hemizygotic deletion of elastin gene was determined in patients and 21 parents with fluorescent in situ hybridization (FISH) technique using the bacterial artificial chromosome clone 244H3 probe or commercial WSCR probe. RESULTS: FISH showed hemizygotic deletion of chromosome 7 in all sixteen patients but none of their parents showed deletion. CONCLUSION: Hemizygotic deletion of elastin gene can be determined by FISH with new probe 244H3 in clinically suspected Williams syndrome patients.
Angiography ; Aortic Stenosis, Supravalvular ; Chromosomes, Artificial, Bacterial ; Chromosomes, Human, Pair 7 ; Clone Cells ; Echocardiography ; Elastin* ; Humans ; In Situ Hybridization, Fluorescence* ; Intellectual Disability ; Parents ; Williams Syndrome*

No abstract available.
Adenoma*

No abstract available.
Ventilators, Mechanical*

The symptoms and signs of stroke vary according to the location of the lesions. Middle cerebral artery territory infarction produces symptoms such as contralateral hemiparesis (worse in the arm than in the leg), hemihypesthesia, dysarthria, aphasia (left lesion), and hemineglect (right lesion). Anterior cerebral artery infarction produces hemiparesis worse in the leg than in the arm, abulia, apathy, and urinary incontinence. Posterior cerebral artery infarction produces hemianopia. An occlusion of small penetrating branches such as lenticulostriate arteries or thalamogeniculate arteries is responsible for the so-called lacunar syndrome : pure hemiparesis, ataxic-hemparesis, dysarthria clumsy hand syndrome, or pure sensory stroke. The symptoms and signs of the brain stem infarction also vary greatly according to the area of involvement. Generally, they are characterized by virtigo, dizziness, diplopia, and ataxia. Major occlusion of the basilar artery may produce grave conditions characterized by altered consciousness, quadriparesis, and horizontal gaze paresis. Intracerebral hemorrhage occur in the basal ganglia, thalamus, lobar area, pons, and the cerebellum, in order of decreasing frequency. The symptoms and signs are dependent on the location and the amount of hemorrhages. The symptoms of subarachnoid hemorrhages are characterized by sudden headache and neck stiffness.
Apathy ; Aphasia ; Arm ; Arteries ; Ataxia ; Basal Ganglia ; Basilar Artery ; Brain Stem Infarctions ; Cerebellum ; Cerebral Hemorrhage ; Consciousness ; Diplopia ; Dizziness ; Dysarthria ; Hand ; Headache ; Hemianopsia ; Hemorrhage ; Infarction ; Infarction, Anterior Cerebral Artery ; Infarction, Posterior Cerebral Artery ; Leg ; Middle Cerebral Artery ; Neck ; Paresis ; Pons ; Quadriplegia ; Stroke* ; Stroke, Lacunar ; Subarachnoid Hemorrhage ; Thalamus ; Urinary Incontinence

No abstract available.
Adult* ; Growth Hormone* ; Humans

BACKGROUND: Oxygen free radicals may play important role in coronary reperfusion resulting in cell death or dysfunction, and they believed that one specific mechanism for producing oxygen free radicals in myocardium is the xanthine oxidase system. Allopurinol, inhibitor of xanthine oxidase system, may limit myocardial dysfunction and injury produced by oxygen free radicals during coronary reperfusion. METHODS: Thirty isolated rabbit hearts undertook the retrograde nonworking perfusion for 15 minutes and followed by 15 minutes of working mode. After measurement of the hemodynamic values as baseline, all heart were arrested with cold cardioplegic solution for 60 minutes. Hearts were then revived with 15 minutes period of nonworking reperfusion, followed by 30 minutes of working reperfusion. The hemodynamic values were measured again at 20 minute of working period and expressed as percent of baseline values. Oxygen content of arterial perfusate and coronary effluent were measured and leakage of creatine kinase was measured from coronary effluent for 15 minutes of nonworking reperfusion. Wet and dry weight of the heart were obtained to determine for tissue water and water content. Animals were randomized as followings ; control(n=10), allopurinol PO(n=10, 100mg/kg before 24hr.), allopurinol IV(n=10, 10mg/kg before 1 hr.) RESULTS: 1) There were no significant differences in recovery of aortic pressure and heart rate between 3 groups. But there were significant differences in percent recovery of aortic flow, coronary flow, cardiac output and stroke volume between control group and allopurinol groups. 2) The leakage of creatine kinase following ischemic arrest was significantly lower in the allopurinol groups than the control group(control : 36.8+/-6.2IU, PO:19.7+/-3.1IU, IV : 22.2+/-4.6IU, p<0.001). 3) The allopurinol groups were significantly increased in oxygen extraction and oxygen consumption compared with the control((p<0.002, p<0.004)). 4) The tissue water and water content were significantly diminished in the allopurinol groups compared with the control group(p<0.003, p<0.001). 5) The electron micrograph showed more considerable structural damages of myocardial cell in the control group than the allopurinol groups. CONCLUSION: It is suggested from the results that allopurinol, inhibitor of xanthine oxidase, plays a inhibiting role in the production of oxygen free radicals, and improves myocardial protection during global ischemia and reperfusion in the isolating working rabbit heart model.
Allopurinol* ; Animals ; Arterial Pressure ; Cardiac Output ; Cardioplegic Solutions ; Cell Death ; Creatine Kinase ; Free Radicals ; Heart Rate ; Heart* ; Hemodynamics ; Ischemia ; Myocardial Reperfusion ; Myocardium ; Oxygen ; Oxygen Consumption ; Perfusion ; Reperfusion ; Stroke Volume ; Xanthine Oxidase

No abstract available.
Primary Health Care* ; Smoke* ; Smoking*

No abstract available.
Anemia, Aplastic*

No abstract available.
Fever*