OBJECTIVE: Increasingly it is being recognized that genetic factors play a significant role in causing malformation. There are many available prenatal diagnostic methods including cytogenetic karyotyping using amniocentesis and cordocentesis, fluorescence in situ hybridization(FISH), and primed in situ labelling(PRINS). Our purpose was to attempt to discuss the clinical use of cytogenetic karyotyping, FISH, and PRINS. METHODS: We conducted 222 cases of cytogenetic karyotyping using amniocentesis and cordocentesis, l0 cases of FISH, and 10 cases of PRINS from January 1996 to July 1998 at Ewha Womans University Mokdong Hospital. Age distribution, chromosomal abnormalities by age group, indication, karyotype, and baby outcomes were performed. RESULTS: Overall incidence of chromosomal abnormalities was 7.7%(17cases) and chromosomal abnormalities were most frequently noted in 30-34 year old women and 35-39 year old women(2.3%, respectively). Among 222 cases, 25-29 year old women were highest(30.2%). Chromosomal abnormalities among cytogenetic karyotyping cases were Down syndrome, Edward syndrome, Patau syndrome, Deletion(8), Inversion(9), etc. The 5 cases of healthy baby among chromosomal abnormalities were delevered. Among 213 cases of karyotyping using amniocentesis, abnormal karyotyping cases were 15 cases. Among 15 cases, 8 cases were terminated and 5 cases of healthy baby were delivered. Among 9 cases of karyotyping using cordocentesis, 2 cases of chromosomal abnormalities(Edward, Down syndrome) were found and 3 cases healthy baby were delivered. Among 10 cases of FISH results, 6 case of FISH results were the same with G-banding and were different from G-banding. Among 10 cases of PRINS results, we got the PRINS results from 7 cases. CONCLUSION: It is concluded that cytogenetic karyotyping, FISH, and PRINS are very useful to detect chromosomal abnormalities.
Age Distribution ; Amniocentesis ; Chromosome Aberrations ; Cordocentesis ; Cytogenetics* ; Down Syndrome ; Female ; Fluorescence* ; Humans ; In Situ Hybridization* ; Incidence ; Karyotype ; Karyotyping* ; Prenatal Diagnosis* ; Primed In Situ Labeling

PURPOSE: The purpose of this study is to compare the growth pattern of breast fed and formula fed infants in the first 1 year of life. METHODS: Anthropometric data (weight, length, head circumference) of at birth, 1, 3, 6, 9 and 12 months were collected by chart review and characteristics of subjects were collected by questionnaires. Among 358 infants, breast fed infants were 161 (84 males, 77 females) and formula fed infants were 90 (42 males, 48 females). Neither group was given solid foods before 4 months. The weight for age, length for age and head circumference for age were calculated. Breast fed infants were separated into 2 groups (breast fed for 4-11 months and breast fed for more than 12 months). RESULTS: Characteristics of infants and mothers were similar in both groups except for maternal age. Mean weight of breast fed group was lower than that of formula fed group at 12 months of age (male: P=0.004, female: P=0.004). However, mean weight of 12 months breast fed group was below formula fed groups weight at 9 and 12 months (P< 0.05). Mean length and head circumference were similar between groups. CONCLUSION: The growth indices of breast fed and formula fed infants are similar at birth, but weight curves of two groups differ in the first 1 year.
Breast Feeding ; Breast* ; Female ; Head ; Humans ; Infant* ; Male ; Maternal Age ; Mothers ; Parturition ; Surveys and Questionnaires

An ABO discrepancy was encountered in a 29-year-old woman with a pregnancy of 36 weeks. The patient's red cell was typed as group O and her serum had only anti-A antibody. Absence of B antigen on patient's RBC was confirmed by adsorption-elution test, B substance was not demonstrated in the saliva and serum. B-transferase activity was not detected in the serum. Patient's serum Ig level was within normal range. The patient's father and son had normal O phenotype and no additional abnormalities were detected among the family members studied.
Adult ; Fathers ; Female ; Humans ; Phenotype ; Pregnancy ; Reference Values ; Saliva

PURPOSE: The aim of this study was to evaluate clinical differences by karyotype in Turner Syndrome. METHODS: We evaluated 66 patients with Turner syndrome diagnosed at Yonsei University College of medicine from Mar.1985 to Feb.1993. We divided subproups as pure 45,X groups, mosaisism groups and structural aberration groups. Clinical features, serum estrogen, LH, FSH, concentrations, gonadotropin release after GnRH administrarion and final adult height were compared between groups. RESULTS: 1) The karyotype showed. 45,X : 30 cases(45%), mosaicism : 20cases(30%), (X/Xi(Xq) : 15%, X/XX : 7.5%, X/XY : 3%, XXq- : 1.5%, X/Xr(Y) : 1.5%, X/XXX : 1.5%) structural aberration: 16 cases(24.5%)(X, i(Xq) : 2 0%, XXq- : 3.0%, XXp- : 1.5%) 2) Clinical features were milder in Turner varinats than classical 45,X. Birth weight, body m ass index, thyroid autoantibody titers, carbohydrate intolence, peak GH levels were not significantly different between two groups. 3) Height age delay was more sighificant in 45,X karyotype than in Turner variants. 4) Although 45,X karyotype showed lower Estrogen, higher LH, FSH level than Turner variants, there was no statistically significant difference between two groups. 5) When GnRH was administered to Turner syndrome gonadotropin release were exaggerated. 6) In 25 cases who achieved their final adult height without GH therapy, mean final adult height was 140.9cm and there was no significant difference between 45,X and Turner variants. CONCLUSIONS: In Turner variants, clinical features are milder than classical 45,X and hormone secretion capacity and final adult height is not significantly different between two groups.
Adult ; Birth Weight ; Equidae ; Estrogens ; Gonadotropin-Releasing Hormone ; Gonadotropins ; Humans ; Karyotype* ; Mosaicism ; Thyroid Gland ; Turner Syndrome*

No abstract available.
Gynecology*

The nm23 gene was originally identified by differential screening of a cDNA library with RNA from low and high metastatic clones of a murine melanoma cell line. And the nm23 gene has been represented as a metastasis suppressor gene. The product of nm23 gene is known to be identical to nucleoside diphosphate(NDP) kinase. The lack of expression of nm23 protein has been correlated with a poorer prognosis in some human tumors, among which are breast carcinoma, malignant melanoma, gastric carcinoma and hepatcelluar cacin-oma. However, in several types of malignant tumors such as colon carcinoma, neuroblastoma and pancreatic carcinoma, unexpected overexpression of nm23 protein was found as compared with normal tissues. Also in a few studies with cervical carcinoma, the expression of nm23 protein was found to be increased as compared with normal cervical tissue recently. Therefore, in this study, we analyzed the expression of nm23-H1 protein by immunohistochemistry method in a series of 40 cervical carcinomas, to determine whether the alterations in the expression of nm23-H1 protein occured in cervical carcinoma as compared with cervical intraepithelial neoplasia(CIN) and normal cervices, and also analyzed the possible association between nm23 protein expression and prognostic parameters of cervical carcinoma at Ewha Womans University Mokdong Hospital from September 1993 to March 1997. The results obtained were as follows; 1. The mean ages of normal control patients, CIN and cervical carcinomas were 42.9 (+/-5.1) years, 39.5(+/-7.7) years, and 49.3(+/-11.7) years respectively. All cases of cervical carcinoma were squamous cell carcinomas. And the number of each stages Ia, Ib, IIa, IIb, III and IV were 13 cases, 8 cases, 6 cases, 9 cases, 2 cases, and 2 cases respectively. 2. In cervical carcinoma, nm23-H1 protein expression was significantly increased as compared with CIN and normal cervical tissue(t=5.017>1.96). 3. In cervical carcinoma, the nm23-H1 protein expression was more increased in higher stages(p=0.021). But it had no significant correlations with primary tumor size, lymphovascular space invasion, parametrial invasion or lymph node metastasis. Our results on nm23-H1 protein expression in cervical carcinoma suggest that cervical carcinoma seems to belong to the group of tumors, like colon carcinoma and neuroblastoma, pancreatic carcinoma in which nm23-H1 overexpression is associated with a more malignant phenotype. In this study, nm23-H1 protein was more expressed in higher clinical stages of cervical carcinoma. Therefore the expression of nm23-H1 protein probably may have a prognostic significance in cervical carcinoma. But a further prospective study on a larger population is needed to establish the role of nm23 gene in this kind of tumor.
Breast Neoplasms ; Carcinoma, Squamous Cell ; Cell Line ; Cervix Uteri* ; Clone Cells ; Colon ; Female ; Gene Library ; Genes, Tumor Suppressor ; Humans ; Immunohistochemistry ; Lymph Nodes ; Mass Screening ; Melanoma ; Neoplasm Metastasis ; Neuroblastoma ; Phenotype ; Phosphotransferases ; Prognosis ; RNA

OBJECTIVE: To define whether lactase-deficient subjects are intolerable to even a pack of milk(200ml) and whether milk intolerance in the patients with IBD is only due to lactose malabsorption, we performed this study. METHODS: We evaluated 32 healthy adults and 12 patients with active stage of inflammatory bowel disease(IBD) who had not received antibiotics therapy within the previous 3 weeks. Thirty-two healthy adults underwent H2-breath test with 200, 400, 600 and 800ml of milk at 1st, 2nd, 3rd and 4th day of study, respectively. We measured their end-expiratory hydrogen concentrations and asked them to record the gastrointestinal symptoms. Twelve patients with IBD were tested only with 200ml of milk. Lactose malabsorption was defined as the increase of 20ppm over basal H2 concentration and lactose intolerance as having two or more of the following symptoms; abdominal pain, diarrhea, borborygmus and flatus. RESULTS: The prevalence of lactase deficiency was 72%(23 of 32 subjects) at 800ml of milk(lactose 40g). Among the lactase-deficient subjects, lactose intolerance at 200ml of milk(lactose 10g) was noticed only in 13%(3 of 23 subjects). In the patients with active stage of IBD, the frequency of milk intolerance at 200ml of milk was 50%(6 of 12 subjects), which was higher than in the healthy adults(9%). But the prevalence of lactose malabsorber in the patients with IBD at 200ml of milk(17%) was not higher than in the healthy adults(16%). CONCLUSION: Most of lactase-deficient subjects(87%) can ingest one pack of milk without lactose intolerance. The increased prevalence of lactose intolerance in the patients with IBD at 200ml of milk is not originated from lactose malabsorption, but probably from incomplete colonic compensation salvage.
Abdominal Pain ; Adult ; Anti-Bacterial Agents ; Colon ; Compensation and Redress ; Diarrhea ; Drinking* ; Flatulence ; Humans ; Hydrogen ; Inflammatory Bowel Diseases* ; Lactase* ; Lactose Intolerance* ; Lactose* ; Milk* ; Prevalence

No abstract available.
Hypopituitarism*

PURPOSE: Cyclosporine(CsA) is a potent immunosuppressant but the use of CsA is associated with various side effects, especially nephrotoxicity. In the kidney, salt depletion activates the renin-angiotensin-aldosteron(RAS) system and accentuates chronic CsA nephropathy. We postulate that angiotensin converting enzyme inhibitors(ACEI) can prevent chronic CsA nephropathy, since ACEI may inhibit this cascades. This study was aimed to assess the effect of ACEI on chronic cyclosporin nephropathy in salt depleted rats. METHODS: 36 Fischer-344 rats were divided into 6 groups. Group I received normal salt diet(NSD). Group II received a low salt diet(LSD). Group III received CsA with a NSD. Group IV received CsA with a LSD. Group V received NSD+CsA with ACEI. Group VI received LSD+CsA with ACEI. Rats were sacrificed after six weeks, and the glomerular filtration rate(GFR), serum sodium, potassium and whole blood cyclosporine levels were measured. Renal tissues were sampled for the observation of histological changes. RESULTS: No differences in blood CsA level and serum sodium were found between groups during the course of this experiment. Serum potassium in group VI was significantly increased compared with group IV and V(P<0.05). In groups treated with CsA only and in those where CsA was combined with ACEI, GFR was found to be significantly more decreased in LSD than NSD, and GFR in group V was significantly decreased in comparison with group III (P<0.05). Renal histologic lesions associated with CsA, which consisted of cortical interstitial fibrosis, tubular atrophy and hyalinization of arterioles, were more severe in the LSD group. But, no differences were observed between the groups treated with CsA and ACEI, and the groups treated with only CsA. CONCLUSION: Salt depletion associated with the activation of the RAS system accentuated chronic CsA nephrotoxicity, but, ACEI could not reduce the functional and morphological changes of salt depleted kidneys, in which nephropathy can be exacerbated in spite of the blocking of the angiotensin II pathway. Further studies are required to elucidate whether ACEI ameliorated the effect of salt-depleted CsA nephrotoxicity upon the effective renal blood flow.
Angiotensin II ; Angiotensins* ; Animals ; Arterioles ; Atrophy ; Cyclosporine* ; Fibrosis ; Filtration ; Hyalin ; Kidney ; Lysergic Acid Diethylamide ; Peptidyl-Dipeptidase A* ; Potassium ; Rats* ; Renal Blood Flow, Effective ; Sodium

BACKGROUND: Most breast carcinomas are easily categorized as ductal or lobular. However, in some cases the distinction can be difficult since some tumors may have intermediate features of these two. Prior studies suggest that E-cadherin is useful to classify tumors as ductal or lobular, as it is lost in lobular but not in ductal carcinomas. METHODS: We studied the histologic features and E-cadherin expression by immunohistochemistry in 57 cases of breast carcinomas, which were divided into three groups based on histology. Group 1 included 4 cases of infiltrating lobular carcinoma (IFL) and 1 case of lobular carcinoma in situ (LCIS) (n=5). Group 2 included infiltrating ductal carcinoma (IFD) with some features of IFL (n=48). Group 3 included a solid type of intraductal carcinoma (DCIS) (n=4). E-cadherin staining was scored as negative or positive. RESULTS: All 5 cases from group 1 were E-cadherin negative, and all 4 DCIS cases were positive. Only 2 (0.04%) of the 48 cases from group 2 were E-cadherin negative. CONCLUSIONS: Our findings suggest that the majority of cases with morphologically IFD with some IFL features are ductal. E-cadherin immunostaining is of value in helping to characterize breast carcinomas with indeterminate morphologic features.
Breast Neoplasms ; Breast* ; Cadherins* ; Carcinoma, Ductal ; Carcinoma, Intraductal, Noninfiltrating ; Carcinoma, Lobular* ; Immunohistochemistry