No abstract available.
Glycogen Storage Disease* ; Glycogen*

No abstract available.
Accidents, Traffic* ; Fistula*

Canavan disease(CD) is a rare autosomal recessive leukodystrophy caused by the deficiency of aspartoacylase and the accumulation in brain of N-acetylaspartate(NAA). CD has been reported mainly Ashkenazi Jews but also occurs in other ethnic groups. Usually it presents as early as the third month of life with megalencephaly, hypotonia later progressing to hypertonia, psychomotor and mental retardation, blindness, occasionally deafness and seizure. Diagnosis is based on the clinical feature, N-acetylaspartic aciduria, radiologic and pathologic findings. Histologically, the affected white matter shows extensive vacuolation and demyelination. There is no treatment for CD and the only prevention is through genetic counselling and prenatal diagnosis. We experienced a case of Canavan disease that was presented with hypotonia and developmental delay. Diagnosis was confirmed histologically. Radiologic findings are extensive high signal throughout the white matter on T2-weighted MRI and increased NAA peak and decreased choline peak of the white matter on MR spectroscopy.
Blindness ; Brain ; Canavan Disease* ; Choline ; Deafness ; Demyelinating Diseases ; Diagnosis ; Ethnic Groups ; Humans ; Intellectual Disability ; Jews ; Magnetic Resonance Imaging ; Magnetic Resonance Spectroscopy ; Muscle Hypotonia ; Prenatal Diagnosis ; Seizures

PURPOSE: Leigh syndrome is a kind of mitochondrial disease with a pathological production of lactate and variable clinical manifestations. Recently biochemical assay of the mitochondrial enzyme activity and MRS are becoming a powerful tool for the definitive antemorterm diagnosis of this disease. The aim of this study was designed to determine the usefulness of biochemical enzyme assay and MRS in Leigh syndrome. METHODS: A clinical study of 8 cases of pediatric patients were diagnosed as Leigh syndrome on the basis of clinical manifestations and MRI features at the department of pediatrics, Ulsan university hospital, from July, 1992 to June, 1997. Biochemical enzyme assay of the cultured skin fibroblasts was consulted to hospital for sick children, Toronto, Canada. Cerebral lactates were detected on MRS were analysed in relation to the MRI findings and lactate levels in the CSF. RESULTS: 1) Age at diagnosis ranged from 7 months to 8.9 years; seven were boys and one was girl. 2) Main clinical symptoms were as follows in the order of frequency; seizure(75%), ophthalmoplegia(50%), hemiplegia(50%), hypotonia(50%), respiratory difficulty(50%), developmental delay(38%), consciousness change(38%), mental retardation( 25%). 3) Anatomical locations of the focal lesions detected on the initial MRI were as follows in the order of frequency; putamen(75%), caudate nuclei(63%), medulla oblongata (18,50%), substantia nigra(38%), thalamus(38%). 4) Biochemical enzyme assay revealed deficiency of NADH cytochrome c reductase (complex I) and deficiency of cytochrome c oxidase(complex N) respectively in 2 patients who had markedly elevated serum and CSF lactate levels and lactate/pyruvate ratio. 5) Cerebral lactates were detected by MRS from 6 lesions of 1 week-4 months old in 6 patients who had normal or mildly elevated serum and CSF lactate levels and lactate/pyruvate ratio. CONCLUSION: MRS detected the brain parenchymal lactate non-invasively from the acute or subacute lesions. Therefore, combined evaluation by MRS and biochemical enzyme assay will provide an important information for the diagnosis and estimation of disease activity in pediatric patients who are suspected to have Leigh syndrome.
Brain ; Canada ; Child ; Consciousness ; Cytochromes c ; Diagnosis ; Enzyme Assays* ; Female ; Fibroblasts ; Humans ; Lactates ; Lactic Acid ; Leigh Disease* ; Magnetic Resonance Imaging ; Medulla Oblongata ; Mitochondrial Diseases ; NADH Dehydrogenase ; Pediatrics ; Skin ; Ulsan

Priapism is usually classified into two types, high flow and low flow, by the intracavernosal blood gas analysis. These two types of priapism is categorized pathophysiologically and hemodynamically; therefore, different treatments were performed according to the type. We report a case with recurrent idiopathic priapism, which was diagnosed and managed as low flow priapism at first. But finally it changed to a high flow priapism confirmed by blood gas analysis and further duplex ultrasonic study. During treatment, it was very difficult to cure the ocmplicated infection because of the necrosis of the cavernosal tissue.
Blood Gas Analysis ; Necrosis ; Priapism* ; Ultrasonics ; Wound Infection

PURPOSE: To study the effect of ceftezole Na on the matrix of femoral epiphyseal plates. MATERIALS AND METHODS: Rats were intraperitoneally injected with ceftezole Na (1500 mg/kg B.W) was every day for a week. The specimens obtained from the femoral head were stained with alcian blue (pH 2.5)-P.A.S. to detect the distribution of acid and neutral mucopolysaccharides, and ultrastructural studies for growth plates were also performed. RESULTS: We found that interterritorial and territorial matrices of treatment groups were weakly stained than that of control groups and dilatation and sacculation were observed in rough endoplasmic reticulums in the chondrocyte of the treated group. CONCLUSIONS: According to the histochemical and ultrastructural research, ceftezole Na induces a decrease in mucosubstances in the chondrocytes of growth plate.
Alcian Blue ; Animals ; Cephalosporins* ; Chondrocytes ; Dilatation ; Endoplasmic Reticulum, Rough ; Glycosaminoglycans ; Growth Plate* ; Head* ; Rats*

Effects of melatonin on hepatic glutathione-peroxidase (GSH-Px) and glutathione-reductase (GSH-reductase) activities were studied in Sprague-Dawley (SD) rats administered i.p. (10 mg/kg body weight) with melatonin during 15 days. The activity of cytosolic GSH-reductase in the liver was not changed by melatonin. However, melatonin injection increased significantly the activity of liver cytosolic GSH-Px activity compared with those in saline-treated rats. At the same time, plasma GSH-Px was also increased significantly in melatonin-treated rats. Since GSH-Px, a major antioxidative enzyme, removes H-2O-2 and lipid peroxides which are formed during lipid peroxidation from cellular membrane, such elevation of heptatic GSH-Px activity may contribute to the improvement of antioxidative effects under oxidative damage in the liver.
Animals ; Cytosol ; Lipid Peroxidation ; Lipid Peroxides ; Liver ; Melatonin* ; Membranes ; Plasma ; Rats ; Rats, Sprague-Dawley*

PURPOSE: The purpose of this study was to evaluate the efficacy and safety of Us-guided percutaneous ethanolinjection for the treatment of benign cold thyroid nodules. MATERIALS AND METHODS: Twenty-five patients withbenign cold thyroid nodules (volume of each at least 2ml proven by PCNA to be adenomatous hyperplasia, and coldnodule by thyroid scan) underwent a total of one to three percutaneous ethanol injections (PEI) at intervals ofone or two months. The mean amount of ethanol used was 6.2(range, 1.5-8)ml, depending on the volume of the nodule. Follow up ultrasonography was performed one to four months after the final session. RESULTS: The initial volumeof nodules was 11.4+/-4.1(range, 2.5-41.4)ml, and in all cases this fell by 56.1+/-22.3%(range, 10.9-92.1%);in allcases, follow-up ultrasonography showed that echogeneity was lower and its pattern was heterogeneous. Trere wereno important longstanding complications; the most common side effect was acute pain at the injection site(n=9),and in one case, transient vocal cord palsy occurred. CONCLUSION: our results show that US-guided percutaneousinjection of ethanol is an effective and a safe procedure for the treatment of benign cold thyroid nodules, and isthus an alternative to surgery of hormone therapy.
Acute Pain ; Ethanol* ; Follow-Up Studies ; Humans ; Hyperplasia ; Proliferating Cell Nuclear Antigen ; Thyroid Gland* ; Thyroid Nodule* ; Ultrasonography ; Vocal Cord Paralysis

Sinus of Valsalva aneurysms are rare cardiac anomalies and are usually caused by the separation of the aortic wall media from the valve ring tissue. These aneurysms frequently rupture into the low-pressure areas like the right ventricle and right atrium, rarely do they rupture into the left atrium, left ventricle, pericardial sac, or pulmonary artery. Cerebral infarction has been reported as a rare complication of unruptured sinus of Valsalva aneurysm. We experienced very rare two cases of Valsalva aneurysms of right coronary sinus dissecting into the interventricular septum in patients with cerebral infarction. In two cases these aneurysms ruptured into the left ventricle. These aneurysms were excised and the defect was closed with autopericardium. At the end of the surgical repair, coaptation was found to be insufficient and aortic valve replacement was undertaken.
Aneurysm* ; Aortic Valve ; Cerebral Infarction* ; Coronary Sinus ; Heart Atria ; Heart Ventricles ; Humans ; Pulmonary Artery ; Rupture ; Sinus of Valsalva*

We report the vesicouterine fistula due to migration of intrauterine device in 35-year-old woman, who had suffered from dysuria and watery vaginal discharge for 4 months. The vesicouterine fistula was confirmed by ultrasonography, cystoscopy and fistulography, and treated with laparoscopic fistulectomy.
Adult ; Cystoscopy ; Dysuria ; Female ; Fistula* ; Humans ; Intrauterine Devices* ; Ultrasonography ; Vaginal Discharge