• Molecular & Cellular Toxicology
• /
• v.5 no.1
• /
• pp.67-74
• /
• 2009

Exposures to environmental chemicals that mimic endogenous hormones are proposed for a number of adverse health effects, including infertility, abnormal prenatal and childhood development and above all cancers. In addition, recently miRNA (micro RNA) has been recognized to play an important role in various diseases and in cellular and molecular responses to toxicants. In this study, endocrine disrupting environmental toxicant, nonylphenol (NP) was treated to MCF-7 (Human breast cancer cell) and HepG2 (Human hepatocellular liver carcinoma) cell line at 3 hrs and 48 hrs time point and miRNA analysis using $mirVana^{TM}$ miRNA bioarray was performed and compared with total mRNA microarray data for the same cell line and treatment. Robust data quality was achieved through the use of dye-swap. Analysis of microarray data identifies a total of 20 and 11 miRNA expressions at 3 hrs and 48 hrs exposure to NP in MCF-7 cell line and a total of 14 and 47 miRNA expression at 3 hrs and 48 hrs exposure respectively to NP in HepG2 cell line. Expression profiling of the selected miRNA (let-7c, miR-16, miR-195, miR-200b, miR200c, miR-205, and miR-589) reveals changes in the expression of target genes related to metabolism, immune response, apoptosis, and cell differentiation. The present study can be informative and helpful to understand the role of miRNA in molecular mechanism of chemical toxicity and their influence on hormone dependent disease. Also this study may prove to be a valuable tool for screening potential estrogen mimicking pollutants in the environment.

• Journal of Genetic Medicine
• /
• v.1 no.1
• /
• pp.33-37
• /
• 1997

Spinal muscular atrophy (SMA) is the second most common fatal disease of childhood with autosomal dominant mode of inheritance, and in its less severe form the third most common neuromuscular disease of childhood after Duchenne muscular dystrophy. The genetic defect was found to be on the long arm of chromosome 5 (5q11.2-q13.3) where many genes and microsatellite markers were missing. One of the most important genes is the Survival Motor Neuron (SMN) gene which is homozygously missing in 90% of SMA patients. Another important gene, the Neuronal Apoptosis Inhibitory Protein (NAIP) gene was found to be defective in 67% of SMA type I patients. Studies so far suggest SMA occurs when the genes on the long arm of chromosome 5 are mutated or deleted. Recently our hospital encountered 2 SMA patients of type I and II respectively. These patients both had homozygously defective SMN genes but intact NAIP genes. We are reporting these cases with bibliographic review and discussion. Korean SMA patients presumably have defects in SMN genes similar to those found in European patients, although the significance of NAIP genes remains to be established. SMN gene defects can be easily diagnosed using PCR and restriction enzymes, and this method could be applied towards convenient prenatal diagnosis and towards screening for family members at risk.

• The Korean Journal of Nuclear Medicine
• /
• v.37 no.3
• /
• pp.202-205
• /
• 2003

A 10 days old male infant with congenital megacalyces and megaureter, diagnosed by prenatal ultrasonographic screening, underwent Tc-99m DTPA renal scan for evaluation of urinary tract patency, Tc-99m DMSA scan for evaluation of renal cortical damage. He also underwent intravenous urography(IVU) and renal ultrasonography. Tc-99m DTPA renal scan demonstrates intense tracer accumulation in enlarged both renal pelvocalyses and ureters, which rapidly washout without diuretics administration. Tc-99m DMSA renal cortical scan shows no remarkable photon defect in both renal cortices and visible tracer uptake in both megaureter areas. Ultasonographic and IVU studios show enlarged both renal calyses and bullously dilated ureters, but no dilatation in renal pelvis. Follow up Tc-99m DTPA renal scan, peformed at one year later, also reveals intense tracer accumulation in enlarged both urinary tracts which rapidly washout without diuretics, and shows no significant change compare to the previous Tc-99m DTPA renal scan. Urinary tract obstruction and renal cortical damage can be easily evaluated with Tc-99m DTPA and Tc-99m DMSA scans in patiens with megacalyces and megaureter.

• Clinical and Experimental Pediatrics
• /
• v.65 no.2
• /
• pp.85-89
• /
• 2022

Background: There is evidence of a relationship between prenatal excess androgen exposure and central nervous developmental problems and attention-deficit/hyperactivity disorder (ADHD) in the offspring of mothers with polycystic ovary syndrome (PCOS). Purpose: Here we aimed to use a meta-analysis to investigate whether the offspring of mothers with PCOS are at an increased chance of developing ADHD. Methods: Three main English databases were searched for articles published through December 2020. The Newcastle-Ottawa Scale was used to assess study quality. Study heterogeneity was determined using I² statistics and publication bias was assessed using Begg and Egger tests. The results are presented as odds ratio (OR) and relative ratio (RR) estimates with 95% confidence intervals (CIs) using a random-effects model. Results: Six articles (3 cohort and 3 case-control studies; 401,413 total ADHD cases) met the study criteria. Maternal PCOS was associated with an increased risk of ADHD in the offspring based on OR and RR (OR, 1.42; 95% CI, 1.27-1.57) and (RR, 1.43; 95% CI, 1.35-1.51), respectively. There was no heterogeneity among the included articles based on OR (I²=0.0%, P=0.588) and RR (I²=0.0%, P=0.878). Conclusion: Our study showed that maternal PCOS is a risk factor for ADHD. Therefore, screening their offspring for ADHD should be considered part of the comprehensive clinical care of women with PCOS.

• Journal of Genetic Medicine
• /
• v.5 no.1
• /
• pp.47-54
• /
• 2008

Purpose : Fluorescence in situ hybridization (FISH) on uncultured amniotic fluid cells offers the opportunity for rapid screening of aneuploidies and has become an integral part of the current practice in many clinical cytogenetics laboratories. Here, we retrospectively analyzed the results of interphase FISH in 943 amniotic fluid samples and assessed the efficiency of FISH for rapid detection of aneuploidies. Methods : Interphase FISH for chromosome 13, 18, and 21 was performed in 943 consecutive amniotic fluid samples for rapid diagnosis of aneuploidies referred from 2004 to 2006. Karyotypes from standard cytogenetic analysis were compared to the FISH results. Results : A total of 45 chromosomal rearrangements (4.8%) were found after conventional cytogenetic analysis of the 943 amniotic fluid. After exclusion of known familiar chromosomal rearrangements and inversions (2.1%, 20/943), 2.7% (25/943) were found to have chromosomal abnormalities. Of this group, 0.7% (6/943) were chromosomal abnormalities not detectable by FISH and 2.0% (19/943) were numerical abnormalities detectable by FISH. All 14 cases of Down syndrome (Classic type, 13 cases; Robertsonian type, 1 case) and 5 cases of trisomy 18 were diagnosed and detected by FISH and there were no false-positive or -negative results (specificity and sensitivity=100%). Conclusion : The present study demonstrates that FISH can provide a rapid and sensitive clinical method for prenatal identification of chromosome aneuploidies. However, careful genetic counseling is essential to explain the limitations of FISH, including the inability to detect all chromosomal abnormalities and the possibilities of uninformative or false-negative results in some cases.

• Journal of Genetic Medicine
• /
• v.4 no.1
• /
• pp.64-71
• /
• 2007

Purpose : The purpose of this study was to evaluate the clinical utility of rapid detection of Down syndrome and Edward syndrome by Interphase Fluorescence in Situ Hybridization (FISH) analysis. Methods : Aretrospective study in 309 cases of amniotic fluid samples, analysed by interphase FISH with DNA probes specific to chromosome 18 and 21, was performed. All FISH results w ere compared with conventional cytogenetic karyotypings. Results : The results were considered as informative and they were obtained within 48 hrs. A case of Down syndrome and a case of Edward syndrome were diagnosed by FISH and confirmed by subsequent cytogenetic analysis. In 12 cases with normal FISH results, the cytogenetic analysis showed a case of partial trisomy 22, three cases of sex chromosomal aneuploidy, two cases of mosaicism, two cases of microdeletion, and four cases of structural rearrangement. Conclusion : FISH is a rapid and effective diagnostic method, which can be used as an adjunctive test to cytogenetic analysis, for prenatal identification of chromosome aneuploidies. For the more genome-wide screening with variety of probes, the technique of FISH is both expensive and labor-intensive.

• Journal of Science and Technology Studies
• /
• v.1 no.2 s.2
• /
• pp.343-369
• /
• 2001

Understanding of the social perception of biotechnology would facilitate the public awareness and debate over the social implications of biotechnology, leading to strengthened basis for social consensus. As a part of the ELSI (Ehical, Legal and Social Implications) project in Korea, the authors have launched a series of social surveys on the social perception of biotechnology. This article is based on the analysis of the first survey, conducted in October 2001. The data were collected through telephone survey on 500 adult respondents nationwide selected by a stratified sampling method. The survey addresses the following questions: What is the present state of public awareness and attitude toward a variety of medical and social applications of biotechnology, such as genetic testing, prenatal genetic screening and testing, xenotransplant, genetic screening for employment, central collection and management of genetic information, and GM food? What factors are related with this perception? The analysis shows that a majority of respondents are in favor of the medical applications. Concerning the social applications and GM food, however, the respondents express a high level of negative attitude a with significant portion of 'do not know' responses. The public perception of the biotechnology is not crystallized in coherent manner yet. The public perception is strongly influenced by mass media, which tend to deliver rather positive information on biotechnology. The analysis suggests that the production and dissemination of diverse information should be activated to reach a sound decision on controversial issues surrounding the development of biotechnology both at individual and societal level as well.

• Journal of Genetic Medicine
• /
• v.6 no.1
• /
• pp.74-80
• /
• 2009

Purpose: To assess the value of first-trimester pregnancy-associated plasma protein-A (PAPP-A), nuchal translucency (NT) and second-trimester alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG), unconjugated estriol (uE3), and inhibin-A in predicting pregnancy complications other than fetal aneuploidy. Materials and Methods: A retrospective study in 3,121 singleton pregnancies with integrated testing was performed at Kangnam CHA hospital between January 2005 and December 2006. Baseline characteristics, pregnancy outcomes, and serum marker levels were obtained by review of the medical records. We analyzed the data to identify associations between the integrated screening markers and adverse pregnancy outcomes. Statistical analyses were performed with the SPSS program. Results: In preterm labor and preeclampsia, high AFP, hCG, and inhibin-A levels and low PAPP-A and NT levels were found to be significantly correlated (P<0.05). Elevated second-trimester inhibin-A levels were associated with preeclampsia (odds ratio 2.843), low birth weight (odds ratio 1.446), and preterm labor (odds ratio 1.287), and while decreased first-trimester PAPP-A levels were associated with preeclampsia (odds ratio 0.51) and preterm labor (odds ratio 0.75). Conclusion: First- and second-trimester maternal serum markers screening can be used for predicting high-risk pregnancies.

• Journal of Yeungnam Medical Science
• /
• v.14 no.1
• /
• pp.168-174
• /
• 1997

Alphafetoprotein(AFP) is a glycoprotein synthesized by the fetus early in gestation by the yolk sac and later by the gastrointestinal tract and liver. The concentration of AFP is highest in fetal serum and amniotic fluid around 13th week, and 32nd week in maternal serum. Some conditions are associated with abnormal maternal serum AFP concentration. For examples, neural tube defects, omphalocele, renal anomalies are associated with elevated maternal serum AFP and fetal death, chromosomal trisomies are associated with low level of maternal serum AFP. So maternal serum AFP screening plays a significant role in assessing candidates for prenatal diagnosis and prenatal counselling in pregnant women. This study evaluates the normal ranges of AFP using enzyme immunoassay in normal pregnant women. We studied 500 normal pregnant women who visited the Department of Obstetrics & Gynecology, Yeungnam Medical Center, Yeungnam University during the period through January, 1993 to September, 1996. The group of the study were selected randomly at various gestational ages from 8 to 41 weeks. The results were summarized as follows: 1. The lowest level of AFP in our study group was 2.1ng/ml at 8 weeks of gestation. Thereafter serum alpha-fetoprotein concentrations rose rapidly to reach a peak value at 32nd week. 2. The mean levels of AFP in the primipara and multipara were $166.37{\pm}12.06ng/ml$, and $223.78{\pm}14.00ng/ml$, respectively, showing stastiscally significant difference between these two groups(p<0.01). 3. The mean levels of AFP between mothers who delivered male and female babies were $192.96{\pm}13.00ng/ml$, and $194.29{\pm}13.84ng/ml$, respectively, without statistically significant difference(p>0.05). 4. The normal ranges of maternal serum AFP according to each gestational week were evaluated.

• Journal of Korean Academy of Nursing
• /
• v.13 no.1
• /
• pp.7-21
• /
• 1983

For the flexible and rational distribution of limited existing health resources based on measurements of individual risk, the socalled Risk Approach is being proposed by the World Health Organization as a managerial tool in maternal and child health care program. This approach, in principle, puts us under the necessity of developing a technique by which we will be able to measure the degree of risk or to discriminate the future outcomes of pregnancy on the basis of prior information obtainable at prenatal care delivery settings. Numerous recent studies have focussed on the identification of relevant risk factors as the Prior infer mation and on defining the adverse outcomes of pregnancy to be dicriminated, and also have tried on how to develope scoring system of risk factors for the quantitative assessment of the factors as the determinant of pregnancy outcomes. Once the scoring system is established the technique of classifying the patients into with normal and with adverse outcomes will be easily de veloped. The scoring system should be developed to meet the following four basic requirements. 1) Easy to construct 2) Easy to use 3) To be theoretically sound 4) To be valid In searching for a feasible methodology which will meet these requirements, the author has attempted to apply the“Likelihood Method”, one of the well known principles in statistical analysis, to develop such scoring system according to the process as follows. Step 1. Classify the patients into four groups: Group $A_1$: With adverse outcomes on fetal (neonatal) side only. Group $A_2$: With adverse outcomes on maternal side only. Group $A_3$: With adverse outcome on both maternal and fetal (neonatal) sides. Group B: With normal outcomes. Step 2. Construct the marginal tabulation on the distribution of risk factors for each group. Step 3. For the calculation of risk score, take logarithmic transformation of relative proport-ions of the distribution and round them off to integers. Step 4. Test the validity of the score chart. h total of 2, 282 maternity records registered during the period of January 1, 1982-December 31, 1982 at Ewha Womans University Hospital were used for this study and the“Questionnaire for Maternity Record for Prenatal and Intrapartum High Risk Screening”developed by the Korean Institute for Population and Health was used to rearrange the information on the records into an easy analytic form. The findings of the study are summarized as follows. 1) The risk score chart constructed on the basis of“Likelihood Method”ispresented in Table 4 in the main text. 2) From the analysis of the risk score chart it was observed that a total of 24 risk factors could be identified as having significant predicting power for the discrimination of pregnancy outcomes into four groups as defined above. They are: (1) age (2) marital status (3) age at first pregnancy (4) medical insurance (5) number of pregnancies (6) history of Cesarean sections (7). number of living child (8) history of premature infants (9) history of over weighted new born (10) history of congenital anomalies (11) history of multiple pregnancies (12) history of abnormal presentation (13) history of obstetric abnormalities (14) past illness (15) hemoglobin level (16) blood pressure (17) heart status (18) general appearance (19) edema status (20) result of abdominal examination (21) cervix status (22) pelvis status (23) chief complaints (24) Reasons for examination 3) The validity of the score chart turned out to be as follows: a) Sensitivity: Group $A_1$: 0.75 Group $A_2$: 0.78 Group $A_3$: 0.92 All combined : 0.85 b) Specificity : 0.68 4) The diagnosabilities of the“score chart”for a set of hypothetical prevalence of adverse outcomes were calculated as follows (the sensitivity“for all combined”was used). Hypothetidal Prevalence : 5％ 10％ 20％ 30％ 40％ 50％ 60％ Diagnosability : 12% 23% 40% 53% 64% 75% 80%.