The Machado Joseph disease(MJD) is a progressive neurodegenerative disease with an autosomal dominant inheritance. Patients affected by MJD may present variable combinations of cerebellar ataxia, ophthalmoplegia, pyramidal tract signs, extrapyramidal signs, and peripheral neuropathy. Once, MJD was thought to be limited to the Portuguese from Azores islands, However, since the association of expanded CAG trinucleotide repeat in chromosome 14q32.1 was identified in the MJD, the genetic study has enabled clinicians to make accurate diagnosis and the patients with MJD have been reported in the families from many different races. We report members of a family, presenting with variable combinations of gait ataxia, dysarthria, ophthalmoplegia, pyramidal and extrapyramidal signs. We performed a genetic study in 3 clinically affected and 4 asymptomatic family members. Five of the seven had abnormally expanded CAG repeat number (range 71-84) on the long arm of chromosome 14, compatible with MJD.
Arm ; Azores ; Cerebellar Ataxia ; Chromosomes, Human, Pair 14 ; Continental Population Groups ; Diagnosis ; Dysarthria ; Gait Ataxia ; Humans ; Islands ; Machado-Joseph Disease* ; Neurodegenerative Diseases ; Ophthalmoplegia ; Peripheral Nervous System Diseases ; Pyramidal Tracts ; Trinucleotide Repeats ; Wills

Patients with human immunodeficiency virus (HIV) infection have a higher burden of seizures, but few studies have examined seizures in HIV-infected individuals in Korea. A retrospective study was conducted to determine the epidemiology and clinical characteristics of seizures in patients with HIV infection. Among a total of 1,141 patients, 34 (3%) had seizures or epilepsy; 4 of these individuals had epilepsy before HIV infection, and the others showed new-onset seizures. Most patients exhibited moderate (200 to 500, n = 13) or low (below 200, n = 16) CD4 counts. The most common seizure etiology was progressive multifocal leukoencephalopathy (n = 14), followed by other HIV-associated central nervous system (CNS) complications (n = 6). Imaging studies revealed brain lesions in 21 patients. A total of 9 patients experienced only one seizure during the follow-up period, and 25 patients experienced multiple seizures or status epilepticus (n = 2). Multiple seizures were more common in patients with brain etiologies (P = 0.019) or epileptiform discharges on EEG (P = 0.032). Most seizures were controlled without anticonvulsants (n = 12) or with a single anticonvulsant (n = 12). Among patients with HIV infection, seizures are significantly more prevalent than in the general population. Most seizures, with the exception of status epilepticus, have a benign clinical course and few complications.
Adult ; Aged ; Anticonvulsants/therapeutic use ; Causality ; Comorbidity ; Electroencephalography/*statistics & numerical data ; Female ; HIV Infections/diagnosis/*epidemiology ; Humans ; Incidence ; Longitudinal Studies ; Male ; Middle Aged ; Republic of Korea/epidemiology ; Risk Factors ; Seizures/*diagnosis/*epidemiology/prevention & control ; Treatment Outcome

A 46-year-old male patient developed jaundice after 23 days' treatment of propylthiouracil (PTU) for Graves' disease. Serum alkaline phosphatase was elevated markedly with moderate increase in serum aminotransferase, and the peak level of total bilirubin was 7.3 mg/dL. After withdrawal of PTU, serum aminotransferase and bilirubin began to decrease simultaneously, and completely normalized. One week after the discharge from hospital, he received radioiodine treatment for Graves' disease, but he showed aggravation of hyperthyroidism and ophthalmopathy. So we prescribed methimazole inevitably 16 days' after the radiodiodine treatment. He developed jaundice again after 69 days' treatment of methimazole, but the pattern of hepatotoxicity was slightly different from that of the previous PTU-nduced hepatotoxicity. Serum aminotransferase increased slightly and quickly normalized after discontinuance of methimazole, but serum total bilirubin increased continuously and reached to 24.6 mg/dL. Eosinophilia was prominent and the result of liver biopsy was compatible with cholestatic jaundice. The patient was treated with prednisolone and recovered from jaundice rapidly.
Alkaline Phosphatase ; Bilirubin ; Biopsy ; Eosinophilia ; Graves Disease ; Humans ; Hyperthyroidism ; Jaundice ; Jaundice, Obstructive ; Liver ; Male ; Methimazole* ; Middle Aged ; Prednisolone ; Propylthiouracil*

No abstract available.
Goldenhar Syndrome*

N,N-Diethylnitrosamine (DEN) has been proved to have carcinogenic potential in the initiation or promotion stage and the transformed cells proliferate to form preneoplastic nodules which are positive for placental form of glutathione S-transferase (GST-P). E-Cadherin, a member of the cadherin family, is expressed in epithelial cells. To evaluate the role of adhesion molecules (E-Cadherin, alpha-catenin, and beta-catenin), which have not been well understood in carcinogenesis, we investigated the changes of E-cadherin, alpha-Catenin and beta-Catenins by immunohistochemistry and immunoblotting in DEN-induced hepatocarcinogenesis of rat liver. In addition, the sequential analysis of histopathology and the expression of GST-P were also examined. Immunoreactive areas for GST-P were gradually increased from early period of carcinogenesis and strong GST-P positive foci were noted in various lesions, especially in the clear cell and eosinophilic cell nodules. Immunohistochemically, the E-Cadherin expression was increased in DEN-treated preneoplastic nodules in 4 and 10 weeks and hepatocellular carcinomas displayed relatively reduced expression compared with the hyperplastic nodules. But alpha- and beta-catenin expression was increased in hyperplastic nodules and hepatocellular carcinomas. Immunoblotting studies revealed that the level of alpha-catenin (cytosol and membranous fraction) was overexpressed in hyperplastic nodules as well as hepatocellular carcinomas, which showed markedly increased expression. The membranous fraction of beta-catenin was markedly increased in 10 weeks of DEN treatment and slightly reduced in hepatocellular carcinomas. These findings suggest that during DEN-induced hepatocarcinogenesis, the clear cell and eosinophilic cell nodules expressing GST-P in their cytoplasm are early transformed cell nodules. The altered expression of E-Cadherin and catenins is closely related with tumor propagation. Loss or reduced expression of E-cadherin may play a role in the progression of late hyperplastic nodule to hepatocellular carcinoma in DEN-induced rat hepato carcinogenesis.
alpha Catenin ; Animals ; beta Catenin ; Cadherins* ; Carcinogenesis ; Carcinoma, Hepatocellular ; Catenins* ; Cytoplasm ; Eosinophils ; Epithelial Cells ; Glutathione Transferase* ; Glutathione* ; Humans ; Immunoblotting ; Immunohistochemistry ; Liver* ; Rats*

Traditionally, radical hysterectomy is the main surgical method for the treatment of early cervical carcinoma and always results in the loss of fertility. But, large numbers of young women are recently being diagnosed with cervical carcinoma and fertility preservation has become a concern. So, there has been a move towards more conservative approaches for the treatment of cervical carcinoma in recent years. Radical trachelectomy, which allows preservation of uterus but removes the cervix, parametrium and upper one third of the vagina, is a conservative but locally radical procedure. We performed radical abdominal trachelectomy with pelvic lymphadenectomy for two cases of invasive cervical carcinomas, which may be the first report in korea. One patient was 37 years old single women who had stage Ib cervical cancer and was disease free for 17 months after treatment. The other patient was 19 years old student who was also single and had stage IIa cervical cancer and was disease free for 14 months after treatment. We report the first two cases and review the literature on radical trachelectomy.
Adult ; Cervix Uteri ; Female ; Fertility ; Fertility Preservation ; Humans ; Hysterectomy ; Korea ; Lymph Node Excision* ; Uterine Cervical Neoplasms ; Uterus ; Vagina ; Young Adult

Twenty-one cases of mitral valve prolapse (MVP) diagnosed by M-mode echocardiograms were studied in regard to the underlying or associated conditions, types of MVP, and dimensions of the cardiac structures and parameters reflecting cardiac performance determined by echocardiograms. In 9 cases, MVP was thought to be idiopathic origin. Associated conditions in the remainder were 5 cases of congenital heart disease, 2 cases of rheumatic myocarditis, 1 case each of aortic valve disease, ischemic heart disease and hyperthyroidism, and 2 cases of undiagnosed cardiac conditions. There were 2 cases of buckling type of MVP and in the remainder hammock type. In these 2 patients with hammock type of MVP, mitral valve echoes were seen in the left atrium during systole in 1 case, and diastolic anterior displacement of posterior mitral leaflet in the other. In 9 cases of idiopathic MVP, cardiac dimensions and parameters reflecting cardiac performance as determined from echocardiograms showed no significant differences from those of 27 normal controls.
Aortic Valve ; Echocardiography* ; Heart Atria ; Heart Defects, Congenital ; Humans ; Hyperthyroidism ; Mitral Valve Prolapse* ; Mitral Valve* ; Myocardial Ischemia ; Myocarditis ; Systole

Ossifications of the ligamentum flavum(OLF) and the posterior longitudinal ligament(OPLL) are uncommon clinical entities as a cause of the progressive compression myelopathy or radiculopathy. Although there are considerable literatures concerning OPLL or OLF in cervical and thoracic spine, there are only a few references about OPLL or OLF in the lumbar spine. OLF and OPLL have been reported that they may lead to severe complication only with a minor trauma or even without trauma, such as paraplegia. The authors have experienced 2 cases of OLF accompanied by OPLL In the lumbar spine, who were treated with decompressive laminectomy and excision of ossified ligaments. For its rarity of OLF and OPLL in the lumbar region, we report here with review of literature.
Laminectomy ; Ligaments ; Ligamentum Flavum* ; Longitudinal Ligaments* ; Lumbosacral Region ; Paraplegia ; Radiculopathy ; Spinal Cord Diseases ; Spine*

PURPOSE: Poor prognostic factors of status epilepticus(SE) in children have been known as less than 1 year of age, generalized tonic clonic type of convulsion, symptomatic etiology, and duration of longer than 12 hours. Through statistical analysis of morbidity and mortality between these poor prognostic factors, we intended to inquire out the priority of every prognostic factor. METHODS: We selected patients admitted at the Department of Pediatrics of Masan Samsung Hospital because of SE from January to December 2001. We investigated the statistical significance and the priority in morbidity and mortality of each prognostic factor:age, etiology, type of seizure and response to treatment. RESULTS: There were 38 patients with SE. Age distribution showed that the number of patients less than 3 years old is 29(76.3%). The patients more than 3 years old showed increasing morbidity but there is no statistical significance. In the type of seizure, one patient with a mixed type died. The morbidity in partial seizure was 100% and in mixed type of seizure it was 83.3%(P<0.05). In etiology, one patient with non-febrile SE died. The morbidity in non-febrile SE was 60.9%(P<0.05). In the response of treatment, one patient whose seizure activity was controlled after pentothal infusion died. The morbidities of the groups with in phenytoin or phenobarbital, midazolam, and pentothal were 60.0%, 100%, and 75.0%(P<0.05) respectively. In a multivariate statistical analysis, the etiology factor showed the highest priority between the prognostic factors. CONCLUSION: Among the prognostic factors of SE, the etiology factor is the most important and has the higher priority than the other prognostic factors.
Age Distribution ; Child ; Child, Preschool ; Fibrinogen ; Humans ; Midazolam ; Mortality ; Pediatrics ; Phenobarbital ; Phenytoin ; Prognosis ; Seizures ; Status Epilepticus* ; Thiopental

No abstract available.
Spine*