Metaphyseal Chondrodysplasia is a disease characterized by metaphyseal ossification leading to shortening of stature. The extremities, especially lower, and mainly affected, resulting in a disproportionate drarfing which spares the trunk. The first case was reported in a patient with irregular metaphysis of lower extremities and hands, and severe shorteness of stature by Murk Jansen in 1934. A milder form of Metaphyseal Chondrodysplasia was noted in 1949 by Schmid, which is more common and transmitted in autosomal dominant. Mckusick recently reported another form of Metaphseal Chondrodysplasia, and other types were reported, but they are extremly rare, and of little clinical significance. In the Schmid type, patient is normal at birth, but characteristically shortness of stature, bowed leg, and waddling gait developed at biginning of walking. Ali labratory findings including serum calcium level, phosphorous, alkaline phosphatase, renal function test is normal in Metaphyseal Chondrodysplasia. The most difficult differential diagnosis is Vitamin D-resistant rickets in clinical and x-ray findings. The only treatment is careful observation and properly timed corrective surgery. Authors experienced on case of Schmid type of Metaphyseal Chondrodysplasia which had been treated with Vitamin D under impression of rickets for 1 year before the case was consulted to Orthopedic Department. Proximal tibial osteotomy and subtrochanteric valgus osteotomy were performed for the correction of genu varum and coxa vara deformity with satisfactory results for one year follow up.
Alkaline Phosphatase ; Calcium ; Congenital Abnormalities ; Coxa Vara ; Diagnosis, Differential ; Extremities ; Follow-Up Studies ; Gait ; Genu Varum ; Hand ; Humans ; Leg ; Lower Extremity ; Orthopedics ; Osteotomy ; Parturition ; Rickets ; Rickets, Hypophosphatemic ; Vitamin D ; Walking

BACKGROUND: Oncogenes and EGF-Receptor(EGFR) may be involved n different stages of the multistep carcinogenesis process. A specific pattern of karyotypic abnormalities in solid tumors can be detected by cytogenetic methods. OBJECTIVE: This study is intnded to observe the cytomolecular kiologic chracterization of c-myc, erb B and EGFR genes in squasnous cell carcinoma(SCC) of the skin and cervix. METHODS: We have eytogenet,ically examined the short-term culturs from SCC. The rearrangement, amplification or expressi.on of erb B, c-myc, and EGFR genes were studied by Southern blot, analysis of genomic DNA and by slot blot analysis of tota! RNA extracted from biopsies of normal skin and SCC tissues. EGFR expression was examined immunohistochemially using monoclonal antibodies and the localizat,ion of the c-myc oncogene mRNA by in situ hybridization. RESULTS: A remarkably structural aberration was del 6(q21-qter) counted 20 metaphases among 28 metaphases ana1yzed. In nunierical aberration, all chromosomes were lost or gained randomly. Amenploid including triploid and tetraploid were observed in 8 metaphases, 6 tumor cells contained marker chromosome. In Southern blot analysis, rearrangement and amglificaton of EGFR in primary squamous cell carcinoma of cervix uteri and skin respectively. In slot blot analysis, the levels of c-myc, erb B and EGFR mRNA increaaed respectively 3.5, 2.5 and 2.8 times in SCC when compared to normal tissues. In immunoperoxidase stain, EGFR was present, in SCC where keratinocytes with strong cyto-plasmic staining but no membr, line labelling, where as in normal skin the were primarily present in t,he membrane and cytoplasm of basal cells. In situ hybridization with c-myc cDNAs allowed detection of grains representative of biotin labelled cDNA-mRNA hybrids in the frozden section of SCC tissues. CONCLUSION: These results suggest that specific patterns of karyotypir abnormalites, rearrangement, or amplification of EGFR gene, and overexpression of oncogenes and EGFR gene may be associated with the carcinogenesis of SCC.
Antibodies, Monoclonal ; Biopsy ; Biotin ; Blotting, Southern ; Carcinogenesis ; Carcinoma, Squamous Cell* ; Edible Grain ; Cervix Uteri ; Cytogenetics ; Cytoplasm ; DNA ; DNA, Complementary ; Epidermal Growth Factor* ; Female ; Genes, erbB-1 ; In Situ Hybridization ; Keratinocytes ; Membranes ; Metaphase ; Oncogenes ; RNA ; RNA, Messenger ; Skin ; Tetraploidy ; Triploidy

A 26-year-old male has experienced repeated pruritic and burning erythema and edema over the exposed areas of the skin, especially on the face and hands, after sunlight exposure. He stated that his father, three aunts, and three sisters had similar sunlight sensitivity. The face showed tiny whitish scars. And also there were hypopigmented scars on the dorsum of the hands. Characteristic laboratory findings were as followa: RBC, plasma and stool fluoresced coral red color under the Woods light. 100ml of the RBC contained 245 pg of protoporphyrin. On photosensitive test using sunlight for 60 rninutes, there developed painful sensation at 4 minutes and 40 seconds after exposure, erythema at 12 minutes after, and edema at 20 minutes after. Pathological findings of the specimen obtained from erythematous lesion of the forehead revealed hypergranulosis and acanthosis in the epidermis and perivascular thickening and hyalin deposit around the capillaries in the upper dermis. For treatment, avoidance of exposure to sunlight was recomrnended and symptomatic therapy was tried.
Adult ; Anthozoa ; Burns ; Capillaries ; Cicatrix ; Dermis ; Edema ; Epidermis ; Erythema ; Fathers ; Forehead ; Hand ; Humans ; Hyalin ; Male ; Plasma ; Protoporphyria, Erythropoietic* ; Sensation ; Siblings ; Skin ; Sunlight ; Wood

Congenital scoliosis is defined as a lateral curvature of the spine caused by congenital anomalies of the vertebral development. In this study seventeen congenital scoliosis patients seen and treated by either Milwaukee brace or surgical intervention at Department of Orthopedic Surgery, Seoul National University Hospital from December 1972 to April 1978 were evaluated according to frequency of the curve pattern, character of the deformity, method of treatment and its correctability. The following results were obtained in this study. 1. Age distribution was from 2 to 39 years and mean age was 13.4 years. 2. The most common deformity pattern was hemivertebra in 8 cases (47.1%), unilateral unsegmented bar in 4 (23.6%) and mixed type in 3 (17.6%). 3. The most common curve level was thoracic in 6 cases (35.3%), followed by thoracolumbar in 4 (23.5%) and lumbar in 4 (23.5%). 4. The best corrected type by Milwaukee brace was trapezoid vertebra (29.4%) and then mixed type(26.1%), followed by block type (20%) and hemivertebra(2.3%). 5. The operative treatment was performed in the cases of unilateral bar and progressive type with Milwaukee brace. In terms of the correctability of the curvature, the surgical intervention was better than the conservative treatment, with the result of its average correction of 33.5% that is compared with 15.9% of Milwaukee brace. 6. Halofemoral traction was effectively applied in the cases of rigid and severe curve; the initial curve 76.3 degress with 21.3% of flexibility. 7. Loss of correction in operative treatment was 2.3 degrees (6.5%).
Age Distribution ; Braces ; Congenital Abnormalities ; Humans ; Methods ; Orthopedics ; Pliability ; Scoliosis ; Seoul ; Spine ; Traction

Component fixation on the acetabular side is not as much of a problem because of the simpler geometry and loading configuration. It is generally accepted that hemispheric component design is preferable and immediate implant stability can be achieved by using screws or spikes in the porous coated implants. The authors reviewed 130 primary noncemented porouscoated, press fit acetabular component in 110 patients; 84 were AML (Anatomical Medullary Locking) and 46 were HarrisGalante acetabular component. Radiologic analysis at a minimum of 3 years(average 4.5 years) was done with special regards to the vertical and medial migration, screw size and numbers, change of the radiolucent line and its zone with its fate and acetabular cup angles on the acetabular component by the 2 observers. Progressive radiolucent line at the component-bone intersurface were found in 14 cases(11%), frequently located in zone I and zone I & II. No significant vertical, medial migration and change of the acetabular cup angle were found. No screw and spike failure had occurred. No component had to be revised because of loosening. As a whole, in our 3-years experience we report excellent results with porous coated acetabular component although it dose not ensure long-term sucess.
Acetabulum ; Hip ; Humans

Choriocarcinoma is a relatively rare malignancy of which characteristic is rapid metastasis to the other organs. It is related to the previous gestation or originated from the teratoma. Choriocarcinoma is mostly originated from the intrauterine chorionic villi, but it is rarely originated from the utreine cervix, fallopian tube, ovary, vagina and pelvic cavity. Primary choriocarcinoma of the fallopian tube is exceedingly rare and it is originated from ectopic tubal pregnancy, tubal migration from the intrauterine pregnancy or intratubal teratoma. 9 Symptoms and signs of the choriocarcinoma originated from the ectopic pregnancy are abdominal pain, vaginal bleeding, palpable adnexal mass, positive pregnancy test and amenorrhea. Thus it is difficult to distinguish choriocarcinoma from ectopic pregnancy on the basis of symptoms before the microscopic diagnosis presented.20 Effective treatment of choriocarcinoma is chemotherapy. Additional operation is possible. B-HCG is a useful measure for the follow up. We experienced a 36-year-old multigravida Korean woman who was diagnosed as the rupture of ectopic pregnancy after left salpingectomy in our hospital and then confirmed primary choriocarcinoma of the fallopian tube without metastasis on microscopic finding. Postoperative chemotherapy was performed with methotrexate. The follow up of disease is still on going at two month intervals and she has remained healthy, We report this case with review of literatures.
Abdominal Pain ; Adult ; Amenorrhea ; Cervix Uteri ; Choriocarcinoma* ; Chorionic Villi ; Diagnosis ; Drug Therapy ; Fallopian Tubes* ; Female ; Follow-Up Studies ; Humans ; Methotrexate ; Neoplasm Metastasis ; Ovary ; Pregnancy ; Pregnancy Tests ; Pregnancy, Ectopic ; Pregnancy, Tubal ; Rupture ; Salpingectomy ; Teratoma ; Uterine Hemorrhage ; Vagina

Moyamoya disease is a progressive occlusive cerebrovascular disease that can cause severe permanent disability. To minimize the ischemic deficit, various surgical methods have been tried. Six cases treated surgically are presented, 10 sides with encephaloarteriosynangiosis and 1 side with superficial temporal-middle cerebral artery anastomosis and encephalomyosynangiosis. Among these six cases, three cases were associated with intracerebral and intraventricular hemorrhage, and two cases were associated with intracerebral and intraventricular hemorrhage and demonstrable aneurysm, and the other was associated with cerebral infarction. All patient were reviewed and had not ischemic deficit or rebleeding during the follow-up period. The patient's clinical status and results are presented and literatures that have been reported are reviewed.
Aneurysm ; Cerebral Arteries ; Cerebral Infarction ; Follow-Up Studies ; Hemorrhage ; Humans ; Intracranial Hemorrhages ; Moyamoya Disease

BACKGROUND/AIMS: To investigate the diagnostic performance of diffusion-weighted imaging (DWI) for hepatic neuroendocrine tumors (NET) compared with combined DWI and contrast-enhanced magnetic resonance imaging (MRI). METHODS: Fifteen patients with hepatic NET (n=128) underwent enhanced MRI and DWI with multiple-b values. We analyzed three different sets: Precontrast set; DWI set (added DWI); combined set (added enhanced image). Two reviewers rated possibility of NET using a 5-point scale for each image set. Their diagnostic performance was compared using Jackknife alternative free-response ROC (JAFROC). RESULTS: Diagnostic performance was better on the combined set (figure of merit [FOM]=0.852, 0.761) than the precontrast set (FOM=0.427, 0.572, P〈0.05) and the DWI set (FOM=0.682, 0.620, P〈0.05). However, DWI improved performance compared with precontrast set without statistical difference. In small NETs (〈1 cm), all sets showed low sensitivity (10.7-65.9%) with high specificity (95.4-100%). Interobserver agreement was moderate in all image sets (k=0.521 to 0.589). CONCLUSIONS: Combined DWI and enhanced MRI were more useful for detecting NET. Although statistically insignficant, there was a trend in improved diagnostic performance with DWI.
Humans ; Magnetic Resonance Imaging* ; Neuroendocrine Tumors* ; Sensitivity and Specificity

OBJECTIVE: The purpose of this study was to evaluate the validity and reliability of Korean version of Addiction Severity Index for the systematic diagnosis and evaluation of alcoholism. METHODS: The authors selected 65 alcoholic patients with the criteria of DSM-VI. RESULTS: The results were as follows: 1) The exception of the significant correlation between psychiatric and the family/social problem area, the 6 sections of ASI were mutually independent. 2) There was significant inter-rater reliability in all sections of ASI. 3) In medical, alcohol use, family/social and psychiatry section, the calculation of composite score showed reasonable level of item consistency. In all sections, there was significant correlation between composite scores and severity ratings of corresponding section. 4) The important items of each section were most highly correlated with their corresponding severity ratings except two sections. 5) In the multiple regression analysis, the amount of variance accounted far by the most important 4 items were 83% in medical section, 45% in employment/support,43% in alcohol use section, 55% in legal section,53% in family/social section and 84% in psychiatric section. 6) Severity rating of psychiatric section was significantly correlated with the scores of MMFI, MAST and SCL-90-R. CONCLUSION: The result suggests that Korean version of the ASI showed relatively reasonable reliability and validity and it can be used in treatment and study of alcoholic patients.
Alcoholics* ; Alcoholism ; Diagnosis ; Humans ; Reproducibility of Results*

PURPOSE: The purposes of this study were to examine whether meniscal degeneration in human osteoarthritis(OA) was related with the occurrence of apoptosis, the expression of nitrotyrosine and Fas. MATERIALS AND METHODS: Menisci were obtained from OA patients undergoing total knee replacement arthroplasty and from normal subjects who were operated an above knee amputaton. According to histologic degeneration, menisci were graded to normal, grade 1(mild), grade 2(moderate), and grade 3(severe). Apoptotic cells were identified by TUNEL method and electron microscopy. Meniscal sections were analyzed by immunohistochemistry for the presence of nitrotyrosine and Fas expression. RESULTS: The number of apoptotic cells were significantly increased in OA meniscus compared with normal meniscus(p < 0.05). The number of apoptotic cells were increased with tissue degeneration. On electron microscopy, the typical chromatin condensation in the OA meniscus was shown in apoptotic cell. The number of Fas-expressing cells was significantly higher in the OA meniscus(p < 0.05). Nitrotyrosine immuno reactivity was prominent in the degenerative menisci(p < 0.05). Fas and nitrotyrosine expression were increased with degree of tissue degeneration. An increase in number of apoptotic cells was correlated with tissue degeneration but not with age . CONCLUSION: Apoptosis was suggested as one of the causes in the tissue degeneration of the human OA meniscus. The development of apoptosis in the meniscus may be related with Fas and nitrotyrosine expression but not with age.
Apoptosis* ; Arthroplasty ; Arthroplasty, Replacement, Knee ; Chromatin ; Humans* ; Immunohistochemistry ; In Situ Nick-End Labeling ; Knee* ; Microscopy, Electron