No abstract available.

No abstract available.

Interchromosomal insertion of Y chromosome heterochromatin in an autosome was identified in a fetus and a family. A fetal karyotype was analyzed as 46,XX,dup(7)(?q22q21.1) in a referred amniocentesis at 16 weeks of gestation for advanced maternal age. In the familial karyotype analyses for identification of der(7), the mother, the first daughter and the maternal grandmother showed the same der(7) as the fetus's. CBG-banding was positive at 7q22 region of der(7) that indicated inserted material was originated from heterochromatin. The origin of heterochromatic insertion region in der(7) of the fetus and the mother was found in Yq12 region by fluorescent in situ hybridization with a DYZ1 probe. In the specific analysis of Y chromosomal heterochromatic region of ins(7;Y) of the mother, 15 sequence tagged sites from Yp11.3 region including SRY to Yq11.223 region was not detected. Final karyotypes of the mother, the first daughter and the maternal grandmother were reported as 46,XX,der(7)ins(7;Y)(q21.3;q12q12). All female carriers of ins(7;Y) in the family showed normal phenotype and the mother and the maternal grandmother were fertile. A healthy girl was born at term. We report a rare case of familial interchromosomal insertion of Y chromosome heterochromatin detected only in female family members with normal phenotype that was diagnosed prenatally.
Amniocentesis ; Female ; Fetus ; Grandparents ; Heterochromatin* ; Humans ; In Situ Hybridization, Fluorescence ; Karyotype ; Maternal Age ; Mothers ; Nuclear Family ; Phenotype ; Pregnancy ; Prenatal Diagnosis* ; Sequence Tagged Sites ; Y Chromosome*

A 36-year-old pregnant woman was referred for amniocentesis at 19.5 weeks gestation because of advanced maternal age and evidence of increased risk for Edward syndrome in the maternal serum screening test. Cytogenetic analysis of the cultured amniotic fluid cells revealed mosaicism for ring chromosome 11: 46,XX,r(11)[65]/45,XX,-11[16]/46,XX[34]. Parental karyotypes were normal. A targeted ultrasound showed intrauterine growth restriction (IUGR). Cordocentesis was performed to characterize the ring chromosome and to rule out tissue specific mosaicism. Karyotype was confirmed as 46,XX,r(11) (p15.5q24.2)[229]/45,XX,-11[15]. And a few new form of ring were detected in this culture. The deletion of subtelomeric regions in the ring chromosome were detected by fluorescent in situ hybridization (FISH). The pregnancy was terminated. The fetal autopsy showed a growth-retarded female fetus with rocker bottom feet. We report a case of prenatally detected a de novo ring chromosome 11.
Pregnancy ; Female ; Humans

PURPOSE: Our aim was to investigate the predictive factors for detecting grade III-V vesicoureteral reflux(VUR) in young infants less than 3 months with urinary tract infections (UTI). METHODS: Data of infants who underwent ultrasonography and VCUG between January 2004 and September 2007 were reviewed. Age, gender, incidence of bacteremia, C-reactive protein(CRP) and imaging studies were compared between group I(grade III-V VUR) and group II (normal or grade I and II VUR) retrospectively. Sensitivity, specificity, positive and negative predictive values, odds ratio, and likelihood ratio of ultrasonography for high grade VUR were evaluated. RESULTS: Among 54 enrolled infants(41 males, 13 females), 14 infants were group I and 40 infants were group II. In the group I, CRP level was significantly higher(6.11+/-5.18 vs. 3.27+/-3.45, P=0.025), and there were more ultrasonographic abnormal findings(71.4%, vs. 22.5%, P=0.002) compared with group II. However, ultrasonography was the only significant factor after adjusting with logistic regression(P=0.002). Incidence of bacteremia and abnormal DMSA findings were not significantly different in two groups. Sensitivity, specificity, and odds ratio of ultrasonography was 71.4%, 77.5%, 6.9 respectively. Negative predictive value was 88.6% and negative likelihood ratio was 0.37. Ultrasonography had significant negative likelihood ratio for grade III-V VUR, but missed 4 infants with grade III VUR. CONCLUSION: We could not find any alternative predictive factors to reduce VCUG in detecting high grade VUR. Therefore, VCUG must be considered in young infants less than 3 months with UTI.
Bacteremia ; Humans ; Incidence ; Infant ; Male ; Odds Ratio ; Prednisolone ; Retrospective Studies ; Sensitivity and Specificity ; Succimer ; Urinary Tract ; Urinary Tract Infections ; Vesico-Ureteral Reflux

PURPOSE: This study was designed to confirm whether the paracentric inversions of fetuses and parents may be harmless. MATERIALS AND METHODS: We report 10 cases (0.14%) with paracentric inversions among 7,181 prenatal cases observed during prenatal diagnosis performed at Cheil General Hospital between January 2009 and June 2013. We used cytogenetic GTL- and RBG-banding techniques. RESULTS: Of the 10 cases, nine cases were transmitted from each of the parents, and one case was de novo. Nine cases were phenotypically normal up to one month of age after birth. One case was lost to follow-up. We present prenatal diagnosis and follow-up examination of the fetuses with paracentric inversion. CONCLUSION: Based on our cases, most paracentric inversions are considered to be harmless. The precise identification of paracentric inversions might be clinically important and helpful for genetic counseling.
Amniocentesis ; Chorionic Villi Sampling ; Cytogenetics ; Female ; Fetus ; Follow-Up Studies ; Genetic Counseling ; Hospitals, General ; Humans ; Lost to Follow-Up ; Parents ; Parturition ; Pregnancy ; Prenatal Diagnosis*

Objective of this study was to compare the color stability, mechanical and chemical properties of three different types of temporary crown resins. Commercially available powder-liquid (Group PL), light-cured (Group LC) and auto-mix syringe (Group AM) types' temporary crown resins were used as experimental groups for each of the evaluation. All the test groups were evaluated after 1 day and 7 days of immersion in various staining solutions. The colors of all groups before and after storage in the staining solutions were measured by a spectrophotometer based on CIE Lab system, and the color differences (ΔE(*)) thereby calculated. Micro hardness test was performed before water storage and aging after 7 days at 37 ℃. In addition, flexural strength, water sorption and solubility tests were performed according to international standard, ISO 10477. All experimental groups showed significant color change in staining solutions when compared to those stored in the control solution (distilled water) (p<0.05). Group PL showed the least color change among the three groups followed by Group AM (p<0.05). This tendency was observed after 7 days of immersion. In terms of the micro hardness test, Group PL showed the highest value among the three groups followed by Group AM (p<0.05). Additionally, the flexural strength decreased in the following order: AM > PL > LC (p<0.05). Water sorption and solubility increased in the following order: AM < PL < LC (p<0.05). The results of this study would provide useful information when choosing temporary crown resin types in various clinical situations.
Aging ; Crowns ; Hardness Tests ; Immersion ; Solubility ; Syringes ; Water

Twin conceptus of a complete hydatidiform mole (CHM) and a normal fetus are rare but are important because of diagnostic difficulty, problems related to twin pregnancy, and high risk of persistent gestational trophoblastic tumor. Recently, we experienced one case of twin pregnancy consisting of a CHM and a normal fetus. A 26-year-old woman complained of vaginal bleeding. She had evidences of pregnancy-induced hypertension. A male fetus was delivered at 20 gestational weeks. The placenta demonstrated vesicles of molar change separated from normal placenta. Microscopically, the molar villi disclosed diffuse hydropic swelling with circumferential trophoblastic proliferation. DNA flow cytometric analysis showed diploid patterns in both molar and normal placental tissues. Fluorescent in situ hybridization in paraffin-embedded tissue presented that normal placental villi hybridized with X- and Y-chromosome probes (46, XY), while molar villi hybridized with X-chromosome only (46, XX). Thus, dizygotic twinning was confirmed because sex differences were shown between molar villi and normal placental villi. Follow up beta-hCG was within normal range after delivery.
Adult ; Chorionic Villi ; Diploidy ; DNA ; Female ; Fetus* ; Follow-Up Studies ; Humans ; Hydatidiform Mole* ; Hypertension, Pregnancy-Induced ; In Situ Hybridization, Fluorescence ; Male ; Molar ; Placenta ; Pregnancy ; Pregnancy, Twin ; Reference Values ; Sex Characteristics ; Trophoblastic Neoplasms ; Trophoblasts ; Twins ; Twins, Dizygotic ; Uterine Hemorrhage

Objective: The Delirium Diagnostic Tool-Provisional (DDT-Pro) was designed to detect the presence and severity of delirium briefly and objectively regardless of psychiatric expertise. We translated the DDT-Pro into Korean and validated it in elderly Korean patients. Methods: To validate the translation and evaluate inter-rater reliability, a psychiatric trainee and a research nurse independently assessed the same patients referred to the Department of Psychiatry. The results were compared with the reference evaluations performed by a psychiatrist using the Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5). Results: We enrolled 42 elderly patients. The Cronbach’s alpha coefficient were 0.839 (the trainee), 0.822 (the nurse). The Cohen’s weighted κ between the trainee and nurse, ranged from 0.555±0.102 to 0.776±0.062. The Pearson correlation coefficients (Korean version of the DDT-Pro [K-DDT-Pro] and Korean version of the Delirium Rating Scale-Revised-98 [DRS-R98-K] total score) were γ=-0.850 (the trainee), and γ=-0.821 (the nurse). The areas under the ROC curves (AUCs) were 0.974 (the trainee) and 0.893 (the nurse). Conclusion The K-DDT-Pro exhibited high internal consistency and relatively substantial inter-rater reliability. The correlation with the DRS-R98-K was strongly negative. The accuracy of the K-DDT-Pro was excellent, regardless of expertise. In conclusion, the K-DDT-Pro is a brief and simple tool that usefully screens for delirium in elderly patients.

Anti-Müllerian hormone (AMH), a peptide growth factor of the transforming growth factor-β family, is a reliable marker of ovarian reserve. Regarding assisted reproductive technology, AMH has been efficiently used as a marker to predict ovarian response to stimulation. The clinical use of AMH has recently been extended and emphasized. The uses of AMH as a predictive marker of menopause onset, diagnostic tool for polycystic ovary syndrome, and assessment of ovarian function before and after gynecologic surgeries or gonadotoxic agents such as chemotherapy have been investigated. Serum AMH levels can also be affected by environmental and genetic factors; thus, the effects of factors that may alter AMH test results should be considered. This review summarizes the findings of recent studies focusing on the clinical application of AMH and factors that influence the AMH level and opinions on the use of the AMH level to assess the probability of conception before reproductive life planning as a “fertility test.”
Drug Therapy ; Female ; Fertility ; Fertilization ; Gynecologic Surgical Procedures ; Humans ; Menopause ; Ovarian Reserve ; Polycystic Ovary Syndrome ; Reproductive Techniques, Assisted