PURPOSE: This prospective pilot study is a part of the Korean NIH's effort to characterize con- genital anomalies and genetic disorders in Korea and to establish a National Genetic Database. METHODS: This population-based study was conducted at all hospitals that deliver in the province of Suwon; a total of 39 hospitals from May 1, 1997 to April 30, 1999 for a two-year period. All outcome of pregnancies, including liveborn, stillborn, and TOP over 20wks gestation were subjects of this study for the presence of major congenital anomalies. Delivery records of each hospital and pediatric records of one tertiary hospital were collected and analyzed. RESULTS: The total number of pregnancy was 30,319 yielding 30,653 deliveries, including 269 still-born and 27 TOPs. The overall incidence of congenital anomalies was 1.2Yo(366 cases among 30,653 deliveries) with 0.5Yo from primary hospital, 1.4Yo of general hospital deliveries and 4.5Yo of tertiary hospital deliveries. The incidences of selective major congenital anomalies per 1,000 deliveries were 0.82 for Down syndrome, 1.79 for cleft lip with or without cleft palate, and 0.39 for open neural tube defect. CONCLUSION: This pilot study represented the first community-based population data on congenital anomalies in Korea, differing from previous studies based on selective population of relative high-risk population from tertiary hospital delivery. Search for congenital anomalies among cohort by reviewing pediatric records yielded 38Yo of total anomalies, indicating the importance of combining both delivery and pediatrics records in generating accurate data for the incidence of congenital anomalies. (J Korean Pediatr Soc 2000;43:738-745)
Cleft Lip ; Cleft Palate ; Cohort Studies ; Congenital Abnormalities* ; Databases, Genetic ; Down Syndrome ; Epidemiologic Studies* ; Gyeonggi-do ; Hospitals, General ; Incidence ; Korea ; Neural Tube Defects ; Parturition* ; Pediatrics ; Pilot Projects* ; Pregnancy ; Prospective Studies* ; Tertiary Care Centers

PURPOSE: To compare the effects of bifocal versus trifocal diffractive intraocular lens (IOL) implantation on visual quality after phacoemulsification in patients with cataracts. METHODS: Eighty-eight eyes from 63 patients were analyzed. Trifocal (AT LISA tri 839MP), bifocal (AcrySof IQ ReSTOR) and bifocal (Tecnis MF ZLB00) IOLs were implanted into 53, 18, and 17 eyes, respectively. Uncorrected distance, intermediate and near visual acuity, refractive errors, contrast sensitivity, and patient satisfaction were measured at 1 week and 1 month after surgery. Refractive error was converted to a spherical equivalent and compared to predicted refraction calculated by IOL calculation formulas. RESULTS: Uncorrected distance, intermediate, and near visual acuity did not differ significantly between groups. One month after surgery, the mean refractive errors were −0.07 diopters (D) in the AT LISA tri 839MP group, +0.18 D in the AcrySof IQ ReSTOR group, and +0.31 D in the Tecnis MF ZLB00 group (p < 0.001). The predictive accuracy of IOL calculation formulas did not differ between groups. Contrast sensitivity, satisfaction, and spectacle independence in the trifocal group were comparable with those of the two bifocal groups. CONCLUSIONS: Trifocal IOL and two different types of bifocal IOL implantation were all effective for improving visual quality, although refractive error in patients with trifocal IOL shows myopic tendencies.
Cataract ; Contrast Sensitivity ; Humans ; Lens Implantation, Intraocular ; Lenses, Intraocular ; Patient Satisfaction ; Phacoemulsification ; Presbyopia ; Refractive Errors ; Visual Acuity

OBJECTIVE: The aim of our study is to reveal the correlation between the posterior vaginal wall and apex in pelvic organ prolapse. METHODS: We retrospectively reviewed the records of all new patient visits to a urogynecology clinic between January 2013 and December 2015. RESULTS: Four hundred five cases were enrolled in our study. When all POP stages were included, the Bp (pelvic organ prolapse quantification point) had a moderate correlation with the C (Pearson's r=0.419; P < 0.001). Cases where Bp was stage 3 and above presented strong positive correlations with C (Spearman's ρ=0.783; P < 0.001). Cases where C was stage 3 and above presented also strong positive correlations with Bp (Spearman's ρ=0.718; P < 0.001). CONCLUSION: Posterior vaginal wall prolapse and apical prolapse were correlated with each other, and this correlation was more prominent as stage increased. Therefore, when admitting a patient suspected of posterior vaginal wall prolapse or apical prolapse, it is necessary to evaluate both conditions. Especially in cases more severe or equal to stage 3, it is a must to suspect both conditions as the 2 are strongly correlated.
Cystocele ; Humans ; Pelvic Organ Prolapse* ; Prolapse ; Rectocele ; Retrospective Studies ; Uterine Prolapse ; Vagina

BACKGROUND: We investigated the interactions between spontaneous apoptosis-induced neutrophils and autoantibodies with attention to the reactivities of each autoantibody against intracellular antigenssuch as the antinuclear antibody (ANA) and the anti-neutrophil cytoplasmic antibody (ANCA) and the applicability as a conventional test for autoantibody detection. METHODS: The 127 serum samples from patients with autoimmune disease were mixed with whole blood from healthy donors and incubated for 20 hours. The bound antibody against substrate neutrophils was detected with anti-IgG-FITC by flow cytometry. The results of this anti-long incubated neutrophil antibody (ALINA) testing were compared with ANA, ANCA and clinical manifestations. RESULTS: The positivity rate was significantly higher in the 20 hour incubation than that of a 30 minute incubation (100% and 18%, respectively; P<0.000005). Agreement analyses between ANCA and ALINA (k=0.34) and between ANA and ALINA (k=0.39) were poor. In comparison, among the autoimmune diseases, systemic lupus erythematosus had a significantly higher ALINA positivity rate than did other diseases (P<0.000005). In patients with SLE, higher mean fluorescence intensity was significantly associated with the presence of lupus nephritis (11/12 cases vs. 2/10 cases, P<0.005). CONCLUSIONS: We detected antibodies against neutrophil antigens expressed by long incubation with patient sera. Those detected autoantibodies were significantly associated with SLE, especially lupus nephritis. Therefore, further studies are necessary to devise optimal protocols and to clarify specificities for detected autoantibodies or their target antigens.
Antibodies* ; Antibodies, Antineutrophil Cytoplasmic ; Antibodies, Antinuclear ; Autoantibodies ; Autoimmune Diseases ; Flow Cytometry* ; Fluorescence ; Humans ; Lupus Erythematosus, Systemic ; Lupus Nephritis ; Neutrophils* ; Tissue Donors

BACKGROUND: We investigated the interactions between spontaneous apoptosis-induced neutrophils and autoantibodies with attention to the reactivities of each autoantibody against intracellular antigenssuch as the antinuclear antibody (ANA) and the anti-neutrophil cytoplasmic antibody (ANCA) and the applicability as a conventional test for autoantibody detection. METHODS: The 127 serum samples from patients with autoimmune disease were mixed with whole blood from healthy donors and incubated for 20 hours. The bound antibody against substrate neutrophils was detected with anti-IgG-FITC by flow cytometry. The results of this anti-long incubated neutrophil antibody (ALINA) testing were compared with ANA, ANCA and clinical manifestations. RESULTS: The positivity rate was significantly higher in the 20 hour incubation than that of a 30 minute incubation (100% and 18%, respectively; P<0.000005). Agreement analyses between ANCA and ALINA (k=0.34) and between ANA and ALINA (k=0.39) were poor. In comparison, among the autoimmune diseases, systemic lupus erythematosus had a significantly higher ALINA positivity rate than did other diseases (P<0.000005). In patients with SLE, higher mean fluorescence intensity was significantly associated with the presence of lupus nephritis (11/12 cases vs. 2/10 cases, P<0.005). CONCLUSIONS: We detected antibodies against neutrophil antigens expressed by long incubation with patient sera. Those detected autoantibodies were significantly associated with SLE, especially lupus nephritis. Therefore, further studies are necessary to devise optimal protocols and to clarify specificities for detected autoantibodies or their target antigens.
Antibodies* ; Antibodies, Antineutrophil Cytoplasmic ; Antibodies, Antinuclear ; Autoantibodies ; Autoimmune Diseases ; Flow Cytometry* ; Fluorescence ; Humans ; Lupus Erythematosus, Systemic ; Lupus Nephritis ; Neutrophils* ; Tissue Donors

The purposes of this study were to present DNA analysis findings of our case series of fragile X syndrome (FXS) based on methylation-specific polymerase chain reaction (MS-PCR), PCR, and Southern blotting alongside developmental characteristics including psychological profiles and to review the literature on FXS in Korea. The reports of 65 children (male:female, 52:13; age, 6.12+/-4.00 yrs) referred for the diagnosis of FXS over a 26-months period were retrospectively reviewed for the identification of full mutation or premutation of fragile X mental retardation 1 (FMR1). Among the 65 children, there were 4 boys with full mutation, and one boy showed premutation of FMR1, yielding a 6.15% positive rate of FXS. All 4 children with full mutation showed significant developmental delay, cognitive dysfunction, and varying degrees of autistic behaviors. The boys with premutation showed also moderate mental retardation, severe drooling, and behavioral problems as severe as the boys with full mutation. Thirteen articles on FXS in Korea have been published since 1993, and they were reviewed. The positive rate of FXS was in the range of 0.77-8.51%, depending on the study groups and the method of diagnosis. Finally, the population-based prevalence study on FXS in Korea is required in the near future.
Child ; Child, Preschool ; Female ; Fragile X Mental Retardation Protein/*genetics ; Fragile X Syndrome/diagnosis/*epidemiology/*genetics ; Humans ; Infant ; Korea/epidemiology ; Male ; Mutation ; Prevalence

BACKGROUND AND PURPOSE: Atrophy of the hippocampus is an important clinical diagnostic marker of Alzheimer's disease (AD), and so assessments of hippocampal activity and its subdivisions might provide invaluable information. This study compared the glucose metabolism of hippocampal subdivisions in mild-AD patients and healthy controls. METHODS: High-resolution T2*-weighted gradient-echo magnetic resonance imaging (MRI) images and ¹⁸F-fluorodeoxyglucose (FDG) positron-emission tomography (PET) images were acquired using 7.0-T MRI and high-resolution research tomograph FDG-PET, respectively, in 9 early-stage AD patients and 10 healthy subjects. The hippocampal body was divided into three equal parts (anterior, middle, and posterior), and in each part a region of interest (ROI) was drawn over the cornus ammonis (CA)1, CA2/3, CA4/dentate gyrus (DG), and subiculum. The standardized uptake values of the hippocampal subdivisions were calculated for each ROI as ratios relative to the pons standardized uptake value. Statistical analysis was conducted using the Mann-Whitney U test. RESULTS: Patients with early-stage AD patients showed significantly less metabolic activity than healthy controls focally in the middle (p=0.050) and posterior (p=0.034) CA2/3 regions of the right hippocampus, and significantly less activity throughout the left hippocampal body in the anterior CA2/3 (p=0.027) and CA4/DG (p=0.027) regions, the middle CA1 region (p=0.011), and the posterior CA1 (p=0.034), CA2/3 (p=0.007), and CA4/DG (p=0.014) regions. CONCLUSIONS: It was possible to use high-resolution PET-MRI fusion images to identify hippocampus subdivisions and assess glucose metabolism in the subfields. Reductions in metabolic activity were found to vary along the hippocampal axis in early-stage AD patients.
Alzheimer Disease* ; Atrophy ; Cornus ; Glucose* ; Healthy Volunteers ; Hippocampus ; Humans ; Magnetic Resonance Imaging* ; Metabolism ; Pilot Projects* ; Pons ; Positron-Emission Tomography

Tibolone, a selective tissue estrogenic activity regulator, is a synthetic steroid with distinct pharmacological and clinical characteristics in contrast to conventional menopausal hormone therapy. Tibolone induces estrogenic activity in the brain, vagina, and bone but remains inactive in the endometrium and breast. In particular, several studies have investigated whether tibolone usage increases the risk of breast cancer. This study aims to determine the effects of tibolone on the breast by focusing on the relation between tibolone use and breast cancer. Our investigation emphasizes recent studies, particularly those based on Asian populations.

Phyllodes tumors of the breast are rare biphasic fibroepithelial neoplasms that may coexist with breast carcinomas. Herein, we report a case of invasive ductal carcinoma (IDC) within a borderline phyllodes tumor accompanied by extensive ductal carcinoma in situ (DCIS) in the same breast. A 72-year-old woman presented with a palpable lump in the right breast.Mammography showed an oval mass associated with segmental microcalcifications, and breast ultrasound (US) revealed a 2.3 cm oval mass and an associated non-mass lesion. Based on US-guided core needle biopsy, the initial biopsy result of the non-mass lesion suggested DCIS; however, the mass was diagnosed as a fibroepithelial lesion. Preoperative dynamic contrast-enhanced magnetic resonance imaging showed a rim-enhancing oval mass with areas of T2 hyperintensity, accompanied by segmental non-mass enhancement. The mass was highly suspicious for malignancy and was considered imaging-pathology discordant.Subsequently, the patient underwent mastectomy. Histopathological examination of the surgical specimens confirmed a borderline phyllodes tumor with an IDC within the tumor and an extensive intraductal component. The invasive carcinoma component was triplenegative breast cancer. This case highlights the diagnostic challenges of identifying coexisting carcinomas within phyllodes tumors and emphasizes the necessity for increased awareness among radiologists regarding this possibility.

Phyllodes tumors of the breast are rare biphasic fibroepithelial neoplasms that may coexist with breast carcinomas. Herein, we report a case of invasive ductal carcinoma (IDC) within a borderline phyllodes tumor accompanied by extensive ductal carcinoma in situ (DCIS) in the same breast. A 72-year-old woman presented with a palpable lump in the right breast.Mammography showed an oval mass associated with segmental microcalcifications, and breast ultrasound (US) revealed a 2.3 cm oval mass and an associated non-mass lesion. Based on US-guided core needle biopsy, the initial biopsy result of the non-mass lesion suggested DCIS; however, the mass was diagnosed as a fibroepithelial lesion. Preoperative dynamic contrast-enhanced magnetic resonance imaging showed a rim-enhancing oval mass with areas of T2 hyperintensity, accompanied by segmental non-mass enhancement. The mass was highly suspicious for malignancy and was considered imaging-pathology discordant.Subsequently, the patient underwent mastectomy. Histopathological examination of the surgical specimens confirmed a borderline phyllodes tumor with an IDC within the tumor and an extensive intraductal component. The invasive carcinoma component was triplenegative breast cancer. This case highlights the diagnostic challenges of identifying coexisting carcinomas within phyllodes tumors and emphasizes the necessity for increased awareness among radiologists regarding this possibility.