Autosomal dominant polycystic kidney disease (ADPKD) is a hereditary disorder characterized by renal cyst formation, hypertension, and end-stage renal disease. For many years, ADPKD was considered an adult disease. In fact, it may occur at any time in life including in utero. We experienced a case of ADPKD at 34 weeks of gestation. On ultrasound, both kidnies were enlarged and echogenic. Amniotic fluid index was normal. We discovered a family history of paternal origin. Sonographic findings of bilaterally enlarged and echogenic kidnies without oligohydroamniosis may suggest ADPKD. Renal ultrasound examination of parents is useful in the diagnosis of ADPKD.
Adult ; Amniotic Fluid ; Diagnosis* ; Female ; Humans ; Hypertension ; Kidney Failure, Chronic ; Parents ; Polycystic Kidney, Autosomal Dominant* ; Pregnancy ; Prenatal Diagnosis ; Ultrasonography

Werniche's encephalopathy is clinically characterized by the acute onset of global confusion, ataxia, gaze paresis, and nystagmus. It result from a deficiency in thiamine, an essential coenzyme in intermediate carbohydrate metabolism. The prompt use of thiamine prevents progression of the disease and reverses those lesions that have not yet progressed to the point of fixed structural change. We experienced a case of Wemiches encephalopathy associated with hyperemesis gravidarum, which happens to the patient who are injected only dextrose without thiamine. Therefore, we emphasize the need of thiamine replacement in hyperemesis gravidarum.
Ataxia ; Carbohydrate Metabolism ; Female ; Glucose ; Humans ; Hyperemesis Gravidarum ; Paresis ; Pregnancy ; Thiamine

No abstract available.
Dermoid Cyst*

Recently, next generation sequencing (NGS) has received attention as the ultimate genotyping method to overcome the limitations of capillary electrophoresis (CE)-based short tandem repeat (STR) analysis, such as the limited number of STR loci that can be measured simultaneously using fluorescent-labeled primers and the maximum size of STR amplicons. In this study, we analyzed 15 autosomal STR markers via the NGS method and evaluated their effectiveness in STR analysis. Using male and female standard DNA as single-sources and their 1:1 mixture, we sequentially generated sample amplicons by the multiplex polymerase chain reaction (PCR) method, constructed DNA libraries by ligation of adapters with a multiplex identifier (MID), and sequenced DNA using the Roche GS Junior Platform. Sequencing data for each sample were analyzed via alignment with pre-built reference sequences. Most STR alleles could be determined by applying a coverage threshold of 20% for the two single-sources and 10% for the 1:1 mixture. The structure of the STR in each allele was accurately determined by examining the sequences of the target STR region. The mixture ratio of the mixed sample was estimated by analyzing the coverage ratios between assigned alleles at each locus and the reference/variant ratios from the observed sequence variations. In conclusion, the experimental method used in this study allowed the successful generation of NGS data. In addition, the NGS data analysis protocol enables accurate STR allele call and repeat structure determination at each locus. Therefore, this approach using the NGS system will be helpful to interpret and analysis the STR profiles from singe-source and even mixed samples in forensic investigation.
Alleles ; DNA ; Electrophoresis, Capillary ; Female ; Gene Library ; Humans ; Ligation ; Male ; Microsatellite Repeats ; Multiplex Polymerase Chain Reaction ; Statistics as Topic

Human mitochondrial DNA (mtDNA) is generally used to identify highly degraded forensic samples, particularly when the extracted DNA is not sufficient for nuclear DNA analysis. However, direct sequencing, the most widely used mtDNA analysis method, is laborious and time-consuming, and precludes the simultaneous analysis of many samples. Here, we describe a rapid and simple screening method for mtDNA analysis in Koreans using single base extension (SBE) methods. Sixteen highly polymorphic mtDNA SNPs from the control region were selected, and a multiplex SBE system was constructed to analyze them. Because the developed system consists of two duplex PCRs, which produce small amplicons with fewer than 270 bp, it works well with highly degraded samples such as old skeletal remains. Using this multiplex SBE system, 145 different haplotypes were expected to be observed from 593 unrelated Koreans. Seventy-three haplotypes were expected to be observed only once, and the most frequent haplotype was expected to occur 80 times. Since the mean number of pairwise differences was estimated to be 4.55, the developed system could be useful to exclude samples that do not match evidence and reference samples. Therefore, the multiplex SBE system used in this study will be a useful tool to analyze many samples simultaneously and to efficiently screen out non-matching mtDNA sequences in forensic casework.
Asian Continental Ancestry Group ; DNA ; DNA, Mitochondrial* ; Haplotypes ; Humans ; Mass Screening* ; Methods ; Polymerase Chain Reaction ; Polymorphism, Single Nucleotide*

This study was aimed at finding out whether weight reduction alone can improve liver function in obese patients with fatty liver. We did a longitudinal, clinical intervention study on weight reduction by behavior modification, diet and exercise. The study subjects were 25 patients referred to an obesity clinic in whom obesity is the sole factor causing abnormal liver function and fatty liver. Patients were weighed about one year later. We compared the degree of improvement in hepatic function between Group I that showed weight reduction and Group II that showed no-weight reduction. Group I (13) showed dramatic improvement in aspartate aminotransferase (AST) and alanine aminotransferase (ALT) levels, nearly all down to within normal levels. AST showed statistically significant improvement from 74 +/- 36 IU/l to 25 +/- 7 IU/l. ALT also showed statistically significant improvement from 109 +/- 67 IU/l to 30 +/- 14 IU/l. Group II (12) showed higher AST and ALT levels on follow-up visit than initial visit. AST showed statistically significant elevation from 43 +/- 11 IU/l to 59 +/- 23 IU/l. ALT also showed statistically significant elevation from 64 +/- 21 IU/l to 97 +/- 33 IU/l. If we can rule the other causes of hepatic abnormalities in obese patients with fatty liver, we suggest these patients would benefit by weight reduction.
Adolescent ; Adult ; Alanine Transaminase/metabolism ; Aspartate Aminotransferases/metabolism ; Body Weight/physiology ; Comparative Study ; *Diet, Reducing ; Fatty Liver/complications/*diet therapy/physiopathology ; Female ; Human ; Liver/enzymology/*physiopathology ; Longitudinal Studies ; Male ; Middle Age ; Obesity/complications/*diet therapy/physiopathology

PURPOSE: The purpose of this study is to investigate the differences Quality of Life(QOL) according to menopausal symptoms in middle aged women. METHOD: The subjects consisted of 578 women(45-60 years old) residing in urban area by convenience sampling from March 15 to May 30, 2002. The data were collected by structured questionnaire that included general characteristics, menopausal symptoms and QOL scale. the collected data were analyzed by the SPSS 11.0 program that included descriptive statistics, t-test and ANOVA. RESULT: The averaged age of menopause of subjects was 48.29 4.66 years and 74.8% in the subjects complained menopausal symptoms. As for the orders of complained menopausal symptom, it was fatigue, hot flashes, benumbed hands and feet, and irritability. The mean score of the QOL scale was showing above average level of quality of life. Religion was significantly different to the score for activity of QOL, monthly income was different to the score for activity and physical well-being of QOL. Menopausal status was significantly different to the QOL. CONCLUSION: This study suggests that a replicate study is needed. The results are also useful in developing various programs for health promotion of middle aged women.

BACKGROUND: Today, patients with fatty liver have increased by several factors. Some patients with fatty liver have abnormal liver function tests, by the way they have interpreted unwisely and made wrong therapeutic approach about abnoimal liver function tests. So we conducted this study to evaluate the factors related to patients with fatty liver and make basic concept for management. METHODS: We selected 96 patients(71 men, 25 women) who were diagnosed as fatty liver by ultrasound in Asan Medical Health Examination Center, also selected 91 controls(68 men, 23 women) who had similar sex and age distribution from January to December, 1993. We excluded toxic and viral hepatitis cases or patients. We surveyed by questionnaires that composed of 3 day-dietary diary and life style. Nutrient and alcohol intakes were analyzed by nutrient-analysis program that was derivated from Food Composition Table, and we analyzed several biochemical variables. RESULTS: There were 71 men and 25 women with fatty liver, 68 men and 23 women in controls. In cases of men, the mean age was 47 years-old in patient group, 44 years-old in control group. The obesity index was 112.7% in patients, 102.6% in controls, the mean level of triglyceride was 205mg/dl in patients, 150mg/dl in controls. The mean level of serum HDL-C was 46mg/dl in patients, 50mg/dl in controls(p<0.05). The frequency of obesity was 66.2% in patients, 27.9% in controls, hypertriglyceridemia was 42.3% in patients, 22.1% in controls(p<0.05). The frequency of patients who had increased AST was 26.8% in patients, 11.8% in controls, and the frequency of patients or cases who had increased ALT was 26.8%, in patients, 7.4% in controls(p<0.05). There were no significant statistical differences in the nutrient intakes, alcohol drinking and exercise between the male patients and controls. In cases of women, the mean age was 53 years in patient gr oup or among patients, 51 years in controls. The obesity index was 112.2% in patients, 102.1% in controls, and the mean level of serum triglyceride was 198.3mg/dl in patients, 136.4mg/dl in controls(p<0.05). The frequency of obesity was 76.0% in patients, 30.4% in controls, and the frequency of hypertriglyceridemia was 36.0% in patients, 13.0% in controls. There were statistically significant differences in the frequency of obesity and hypertriglyceridemia between patients and controls(p<0,05). There were no statistically significant differences in the frequency of increased AST and ALT, nutrient intakes, alcohol drinking, and excercise between patients and controls. CONCLUSIONS: The fatty liver disease was attributed either to obesity or hypertriglyceridemia. Therefore, it is very important to control of weight and hypertriglyceridemia in the management of patients with fatty liver.
Adult ; Age Distribution ; Alcohol Drinking ; Chungcheongnam-do ; Fatty Liver* ; Female ; Hepatitis ; Humans ; Hypertriglyceridemia ; Life Style ; Liver Function Tests ; Male ; Middle Aged ; Obesity ; Triglycerides ; Ultrasonography ; Surveys and Questionnaires

BACKGROUND: Adolescent girls are interested in weight reduction, but effective and adequate education for weight reduction is not done in Korea. And so much information is accepted via mass media. We investigated body image perception, weight control activities and their side effects among adolescent girls. METHODS: We used questionnaire about body image and weight control activities of middle and high school girls in Seoul in Sep. 1995. RESULTS: 88.6% of girls were not satisfied with their own height and 85.1% of girls with their own weight. 66.3% underweight students(BMI<20kg/m2) thought they were too fat and 98% acceptable weight students(20kg/m2<_KBMI<25kg/m2) thought they were too fat. So most girls had body image disturbance. 42.4% of girls were trying to lose weight and 85.1% were trying to lose weight reason for attractiveness and 16.6% were trying to lose for health. Self reported weight reduction methods were exercise(31.6%), fasting(21.9%), diet(21.5%), monodiet(10.8 %), laxatives(2.3%), very low calorie diet(1.8%) etc. Students who tr ied to lose weight for attractiveness selected more undesirable methods than who tried to lose weight for health(P<0.01). Most common route is via magazine, TV and newspaper. 43.4% of girls who tried to lose weight experienced side effects after weight reduction, those were dizziness(71.3%), general weakness(51%), apathy(26.S%) etc. CONCLUSIONS: Most girls had body image distortions. Useless weight reduction activities were done or planned and most of information was accepted via mass media. It is important to educate the girls to get adequate body image and effective weight reduction program is needed for health in adolescent girls.
Adolescent* ; Body Image* ; Education ; Female* ; Humans ; Korea ; Mass Media ; Periodicals ; Periodicals as Topic ; Self Report ; Seoul ; Thinness ; Weight Loss ; Weight Perception ; Weight Reduction Programs ; Surveys and Questionnaires

No abstract available.
Choriocarcinoma* ; Female ; Ovary* ; Pregnancy