1.A case of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy(CADASIL) patient presenting with chorea
Neurology Asia 2012;17(3):247-249
In cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
(CADASIL), clinical presentation with movement disorders such as dystonia and progressive supranuclear
palsy-phenotype are rarely reported. None of the CADASIL cases, to our knowledge, has been reported
with chorea. Herein, we describe a Korean woman with CADASIL who had presented with chorea.
18F-fl uorodeoxyglucose positron emission tomography (FDG-PET) showed hypometabolism in the
right basal ganglia. We found decreased FDG uptake of the right basal ganglia by SPM analysis.
2.p53 Mutation in Gastric Carcinoma Detected by PCR - SSCP and Direct - Sequencing.
Sang Suk LEE ; Sang Pyo KIM ; Eun Joo SOHN ; Mi Seon HWANG ; Soo Sang SOHN
Journal of the Korean Cancer Association 1998;30(6):1069-1077
PURPOSE: p53 gene mutations, one of the most common alterations found in human tumors, has also been detected in gastric carcinoma, and shown to have a crucial and early role in gastric carcinogenesis of intestinal type and mainly associated with tumor progression in the cancer of diffuse type. We tried to investigate the frequency of p53 mutations in 27 gastric carcinomas. MATERIALS AND METHODS: Fresh tumor tissue from a series of gastric carcinoma was screened for p53 mutations by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) with silver staining and confirmed by direct-sequencing in 27 cases of gastric carcinoma. Immunohistochemical method for p53 protein accumulation was also performed in the same cases. RESULTS: Immunohistochemistry revealed 20 of 27 cases of gastric carcinoma, positive for p53. PCR-SSCP analysis of p53 exons 5-8 detected mobility shift in 4 out of 20 p53-positive tumors; three from exon 5 and the other from exon 7, respectively. DNA sequencing of exon 5 showed CGC to CAC point mutation in one of three cases; exon 7, ATC to AAC point mutation. It seemed that there was no correlation between genetic alterations of p53 gene detected by PCR-SSCP and expression of p53 protein by immunohistochemistry. CONCLUSIOAS: Our results suggest that mutations of the p53 gene are rare genetic events in carcinogenesis of gastric carcinomas. There was discrepancy between mutations screened by PCR-SSCP and overexpressions in immunohistochemical staining.
Carcinogenesis
;
Exons
;
Genes, p53
;
Humans
;
Immunohistochemistry
;
Point Mutation
;
Polymerase Chain Reaction*
;
Polymorphism, Single-Stranded Conformational*
;
Sequence Analysis, DNA
;
Silver Staining
3.Malignant Schwannoma (A Case Report)
Myung Sang MOON ; Han Joo KIM ; Dong Sick LEE ; Rok Kwon KIM ; Eun Joo SEO
The Journal of the Korean Orthopaedic Association 1983;18(5):1029-1032
No abstract available in English.
Neurilemmoma
4.Squamous Cell Carcinoma Arising from Chronic Osteomyelitic Sinus: A Report of Three Cases
Myung Sang MOON ; Han Joo KIM ; Nam Yong CHOI ; Hong Joong KIM ; Eun Joo SEO
The Journal of the Korean Orthopaedic Association 1986;21(1):160-164
The developement of squamous cell carcinoma from the draining sinus of chronic osteomyelitis has long been recognized as a rare and late complication. The mode of developement of carcinoma at the site of chronic osteomyelitis is not well understood. This, however, is chiefly a disease of middle aged men, and tibia is the most common site. There are two types in this carcinoma; superficial and deep types. In the superficial type obvious presence of fungaiing growth makes diagnosis simple and easily confirmed by biopsy. In the deep type the diagnosis is difficult clinically, but the features most frequently described are an increase in pain and discharge with swelling and hemorrhage. Amputation at the adequate level is the treatment of choice. Three cases of the disease involving one left femur, and two left tibiae are reported with review of literature.
Amputation
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Biopsy
;
Carcinoma, Squamous Cell
;
Diagnosis
;
Epithelial Cells
;
Femur
;
Hemorrhage
;
Humans
;
Male
;
Middle Aged
;
Osteomyelitis
;
Tibia
5.Effect of Indomethacin Therpy on Prevention of Intraventricular Hemorrhage in Very.
Eun Joo SEOK ; Eun Jeong KIM ; Seong Sook JEON ; Son Sang SEO
Journal of the Korean Society of Neonatology 1998;5(1):27-34
PURPOSE: Intraventricular hemorrhage(IVH) is a major risk factor for neurodevelop- mental handicap in very low birth weight infant. So we carried out to determine the efficacy of indomethacin in reducing the incidence of intraventricular heorrhage in very low birth weight infant. METHODS: A prospective, random trial was carried out to determine the efficacy of indomethacin in preventing intraventricular hemorrhage. A total of 46 infants of less than 1500g birth weight admitted to NICU of IL Sin Christian Hospital from August 1995 to June 1997 were analyzed. Randomly, 23 infants were given indomethacin and 23 infants were not given as control group. Serial cranial ultrasound examination was performed. RESULTS: There were no differences in the birth weight, gestational age, sex, Apgar score, blood pressure, intake and output within the first 3 days between the indornethacin and control groups. Of 23 infants given indomethacin, four had germinal matrix or intraventricular hemorrhage, in comparison with 10 of 23 control infants(P=0.045). CONCLUSION: Prophylactic indomethacin lowers the incidence of IVH in very low birth weight infants.
Apgar Score
;
Birth Weight
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Blood Pressure
;
Gestational Age
;
Hemorrhage*
;
Humans
;
Incidence
;
Indomethacin*
;
Infant
;
Infant, Very Low Birth Weight
;
Prospective Studies
;
Risk Factors
;
Ultrasonography
6.A Case of Neuronal Heterotopia.
Jeong Hae JOO ; Eun Joo SEOK ; Min Jeong KIM ; Son Sang SEO
Journal of the Korean Pediatric Society 1997;40(8):1173-1177
Neuronal migrational disorders of the brain represent abnormalities in the formation of the neocortex caused by faulty migration of the subependymal neuroblasts. The neuroblasts normally migrate between the sixth and 15th gestational week and in doing so form the six-layered neocortex. When the migration does not occur in a normal fashion the resultant brain anomalies include lissencephaly, pachygyria, schizencephaly, hemimegalencephaly, heterotopia, and polymicrogyria. Neuronal heterotopia is a collection of nerve cells in abnormal locations as a result of arrest of their radial migration, improper formation, or destruction of the radial glial fiber. We reported a case of neuronal heterotopia with brief review of related literatures.
Agenesis of Corpus Callosum
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Brain
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Lissencephaly
;
Malformations of Cortical Development
;
Neocortex
;
Neuronal Migration Disorders
;
Neurons*
7.Ovarian Sertoli-Leydig Cell Tumors with Heterologous Gastrointestinal Type Epithelium or with Striated Skeletal Muscle: report of two cases.
Ki Ouk MIN ; Eun Joo SEO ; Young Shin KIM ; Kyo Young LEE ; Sang In SHIM
Korean Journal of Pathology 1996;30(1):50-56
Sertoli-Leydig cell tumors of the ovary are rare, accounting for no more than 0.5% of all ovarian neoplasms. These tumors occur predominantly in women 10 to 30 years of age. Heterologous elements are found in over 20% of the moderately and poorly differentiated Sertoli- Leydig cell tumors. The most common element is gastrointestinal mucin-secreting epithelium, found in approximately 20% of all cases. Approximately 4% of Sertoli-Leydig cell tumors contain immature skeletal muscle and/or cartilaginous elements. The origin of these neoplasms is regarded as neometaplasia of the mesodermal neoplastic element. While the degree of differentiation of Sertoli-Leydig cell tumors is probably of greater importance in determining prognosis than the presence of heterologous components, recent evidence does point to an unfavorable effect on clinical outcome when heterologous mesenchymal components such as cartilage and striated muscle are present. We experienced two cases of ovarian heterologous Sertoli-Leydig cell tumors with gastrointestinal type epithelium and striated skeletal muscle in 20 and 21 year-old females, respectively. One case involved a patient who had complained of amenorrhea for 3 years while the other case involved a patient who had complained of left lower abdominal tenderness and amenorrhea for one and one half years. It was determined by ultrasonography of the pelvis that the two patients suffered from right and left ovarian masses. Both patients underwent adnexectomy. These tumors were large with partly solid and partly cystic areas. Based on light microscopic examination one case was classified as an intermediate Sertoli-Leydig cell tumor with heterologous gastrointestinal type epithelium, while the other case was classified as a poorly differentiated Sertoli-Leydig cell tumor with heterologous striated skeletal muscle.
Female
;
Humans
8.True Exfoliation of the Lens Capsule.
Journal of the Korean Ophthalmological Society 2001;42(2):392-395
True exfoliation of the lens capsule is a rare disorder, in which anterior layer of the lens capsule delaminates and appears as a thin fluttering membrane in the anterior chamber. It was described by Elschnig in 1922 in glassblowers who were exposed to severe hot, open fire. It has been considered that it is caused by severe fire, intraocular inflammation, ocular trauma, aging, and infrared radiation. The authors report a case of true exfoliation which occurred in 64 year old female patient without any causative factor and found to have delaminated anterior lens capsule by histopathologic study.
Aging
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Anterior Chamber
;
Cataract
;
Female
;
Fires
;
Humans
;
Inflammation
;
Membranes
;
Middle Aged
9.The effect of fentanyl and midazolam on in vitro fertilization and early development of mouse embryo.
Sang Yoon JUNG ; Eun Joo LEE ; Hoe Saeng YANG ; Jae Chul SIM
Korean Journal of Obstetrics and Gynecology 2000;43(6):955-960
OBJECTIVE: To assess the effect of fentanyl and midazolam on in vitro fertilization rate and early embryo development in a mouse IVF model. METHODS: Mouse oocytes were exposed in vitro to fentanyl at a concentration of 0(control), 50, 250, 500, 1000, 5000 pg/ml, and midazolam, 0(control), 2.5, 12.5, 25, 50, 250 ng/ml for 30 minutes, washed and inseminated. Thereafter fertilization was assessed. And subsequent in vitro development to the blastocyst stage was monitored daily. RESULTS: Where fertilization occurred, subsequent embryo cleavage and development up to the blastocyst stage was affected significantly by the presence of fentanyl and midazolam solution in the medium(i.e., 14% to 31%, 10% to 35%), in comparison with control group( 60%, 62%). CONCLUSION: It can be concluded from these experiments that even a brief exposure of cumulus enclosed oocytes to a low concentration of fentanyl, midazolam is deleterious to subsequent cleavage.
Anesthetics
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Animals
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Blastocyst
;
Embryonic Development
;
Embryonic Structures*
;
Female
;
Fentanyl*
;
Fertilization
;
Fertilization in Vitro*
;
Mice*
;
Midazolam*
;
Oocytes
;
Pregnancy
10.A Case of Metatropic Dwarfism.
Eun Ok RHEE ; Nam Joo HWANG ; Yaung Sook CHOI ; Son Sang SEO ; Hye Kyoung YOON
Journal of the Korean Pediatric Society 1989;32(8):1167-1173
No abstract available.
Dwarfism*