• Journal of Genetic Medicine
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• v.4 no.1
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• pp.80-83
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• 2007

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 grow th 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 w ere 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.

• The Journal of the Korea Contents Association
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• v.19 no.11
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• pp.375-382
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• 2019

Abnormalities of trophoblast due to early inflammation in pregnancy increase the expression of CRP and affect maternal-fetal interactions, leading to preterm birth and preeclampsia. However, biomarkers related to the regulation of CRP expression have not been found. In this study, miRNA associated with increased expression of CRP was identified and their expression was analyzed to reveal biomarkers involved in the regulation mechanism of trophoblast inflammation through miRNAs. miRNAs that were predicted to regulate CRP gene expression in miRNA databases (mirna, TargetScan, MicroCosm) were screened and HTR-8/SVneo cell lines were treated with LPS (20 ng/mL) to induce inflammatory responses in vitro, with selected miR-7, miR-150, miR-186 and miR-424. The expression was analyzed by qRT-PCR. As a result, expression of CRP was significantly increased in LPS-treated trophoblast (p<0.001) and miR-150 and miR-424 expression were significantly decreased (p<0.001). Thus, miR-150 and miR-424 are involved in the regulation of CRP expression in inflammatory-induced trophoblast and may be useful for the prenatal diagnosis of inflammatory obstetric diseases.

• Journal of Life Science
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• v.33 no.6
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• pp.455-462
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• 2023

During pregnancy, maternal immune activation (MIA) from infection increases the risk of neurodevelopmental diseases, including schizophrenia and autism spectrum disorders. MIA induced by polyinosinic-polycytidylic acid (poly (I:C)) and lipopolysaccharide (LPS) in animal experiments has led to offspring with abnormal behaviors and brain development. In addition, it has recently been reported that microglia, which reside in the brain and function as immune cells, play an important role in behavioral abnormalities and brain development in MIA-induced offspring. However, the underlying mechanism remains unclear. In this study, we investigated whether microglia-specific inhibition of GPR56, a member of the G protein-coupled receptor (GPCR) family, causes behavioral abnormalities in brain development. First, MIA induction did not affect the microglia population, but when examining the expression of microglial GRP56 in MIA-induced fetuses, GPR56 expression was inhibited between embryonic days 14.5 (E14.5) and E18.5 regardless of sex. Furthermore, microglial GPR56-suppressed mice showed abnormal behaviors in the MIA-induced offspring, including sociability deficits, repetitive behavioral patterns, and increased anxiety levels. Although abnormal cortical development such as that in the MIA-induced offspring were not observed in the microglial GPR56-suppressed mice, their brain activity was observed through c-fos staining. These results suggest that microglia-specific GPR56 deficiency may cause abnormal behaviors and could be used as a biomarker for the diagnosis and/or as a therapeutic target of behavioral deficits in MIA offspring.

• Journal of Life Science
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• v.33 no.5
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• pp.429-435
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• 2023

Epidemiological studies suggest that maternal infection, maternal stress, and environmental risk factors during pregnancy increase the risk of brain development abnormalities associated with cognitive impairment in the offspring and increase susceptibility to schizophrenia and autism spectrum disorder. Several animal models have demonstrated that maternal immune activation (MIA) is sufficient to induce abnormal brain development and behavioral defects in the fetus. When polyinosine:polycytodylic acid (poly I:C) or lipopolysaccharide (LPS), which is commonly used in maternal immune activation animal models, was introduced into a pregnant dam, an increase in pro-inflammatory cytokines and microglial activity was observed in the offspring's brain. Microglia are brain-resident immune cells that play a mediating role in the central nervous system, and they are responsible for various functions, such as phagocytosis, synapse formation and branching, and angiogenesis. Several studies have reported that microglia are activated in MIA offspring and influence offspring behavior through interactions with various cytokines. In addition, it has been reported that they play an important role in brain circuits through interactions with neurons and astrocytes. However, there is controversy concerning whether microglia are essential to brain development or lead to behavioral defects, and the exact mechanism remains unknown. Therefore, for the potential diagnosis and treatment of brain developmental disorders, a functional study of microglia should be conducted using MIA animal models.

• Clinical and Experimental Reproductive Medicine
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• v.31 no.4
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• pp.253-260
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• 2004

Objectives: Klinefelter syndrome is the most common genetic cause of male infertility and presents with 47, XXY mainly or 46, XX/47, XXY mosaicism. It is characterized by hypogonadism and azoospermia due to testicular failure, however, sporadic cases of natural pregnancies have been reported. With the development of testicular sperm extraction (TESE) and intracytoplasmic sperm injection (ICSI), sperm can be retrieved successfully and ART is applied in these patients for pregnancy. It has been suggested that the risk of chromosome aneuploidy for both sex chromosome and autosome is increased in the sperms from 47, XXY germ cells. Considering the risk for chromosomal aneuploidy in the offspring, preimplantation genetic diagnosis (PGD) could be applied as a safe and more effective treatment option in Klinefelter syndrome. The aim of this study is to assess the outcome of PGD cycles by using FISH for sex chromosome and autosome in patients with Klinefelter syndrome. Materials and Methods: From Jan. 2001 to Dec. 2003, PGD was attempted in 8 cases of Klinefelter syndrome but TESE was failed to retrieve sperm in the 3 cases, therefore PGD was performed in 8 cycles of 5 cases (four 47, XXY and one 46, XY/47, XXY mosaicism). In one case, ejaculated sperm was used and in 4 cases, TESE sperm was used for ICSI. After fertilization, blastomere biopsy was performed in $6{\sim}7$ cell stage embryo and the chromosome aneuploidy was diagnosed by using FISH with CEP probes for chromosome X, Y and 17 or 18. Results: A total of 127 oocytes were retrieved and ICSI was performed in 113 mature oocytes. The fertilization rate was $65.3{\pm}6.0%$ (mean$\pm$SEM) and 76 embryos were obtained. Blastomere biopsy was performed in 61 developing embryos and FISH analysis was successful in 95.1% of the biopsied blastomeres (58/61). The rate of balanced embryos for chromosome X, Y and 17 or 18 was $39.7{\pm}6.9%$. The rate of aneuploidy for sex chromosome (X and Y) was $45.9{\pm}5.3%$ and $43.2{\pm}5.8%$ for chromosome 17 or 18, respectively. Embryo transfer was performed in all 8 cycles and mean number of transferred embryos was $2.5{\pm}0.5$. In 2 cases, clinical pregnancies were obtained and normal 46, XX and 46, XY karyotypes were confirmed by amniocentesis, respectively. Healthy male and female babies were delivered uneventfully at term. Conclusion: The patients with Klinefelter syndrome can benefit from ART with TESE and ICSI. Considering the risk of aneuploidy for both sex chromosome and autosome in the sperms and embryos of Klinefelter syndrome, PGD could be offered as safe and more effective treatment option.

• Tuberculosis and Respiratory Diseases
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• v.41 no.2
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• pp.144-151
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• 1994

Background: Miliary tuberculosis almost always results from the discharge of infected caseous material into the blood stream, usually from a well hidden lymph node in the presentation of this disease in the past four decades, and although it is seen less frequent1y today than previously, its presentation and manifestation may require greater suspicion and diligence by the physician. We investigated the clinical characteristics, predisposing factors and accompanying diseases of miliary tuberculosis and tried to acquire the early diagnosis and treatment of this disease. Methods: A retrospective clinical study was done on 40 cases of miliary tuberculosis admitted to Hanyang University Hospital from Mar. 1989 to Dec.1992. The study investigated age and sex distribution, seasonal distribution, duration of symptoms before admission, pre-disposing factors, clinical symptoms, biochemical findings, chest X-ray findings, extrapulmonary tuberculosis associated with miliary tuberculosis, prognosis and mortality rate. Results: 1) The patients were most common in the age group between 20 and 29(23%) and the ratio of male to female was 1.4:1(male 23 : female 17). 2) Sputum smears for tubercle bacilli were positive in 5 cases(13%). 3) The most common clinical symptoms were fever with chilling(47.5%), coughing(47.5%), second most common symptom was dyspnea(32.5%), and the physical findings on admission were tachycardia(30%), weight loss(27.5%), meningeal signs(17.5%) in order. 4) The predisposing factors were heavy alcohol drinking(6 cases), steroid use(3 cases), pregnancy(2 cases) etc. 5) The chest X-ray findings on admission were miliary shadow only(40%), in addition pneumonic infiltration, pleurisy, and calcification in order. 6) The extrapulmonary tuberculosis associated with miliary tuberculosis were tuberculous meningitis(30%), bone and joint tuberculosis(17.5%), intestinal tuberculosis(15%) in order. 7) Biochemical findings were increased SGOT/SGPT(32.5%), increased alkaline phosphatase(32.5%), hypoalbuminemia(15%), hyponatremia(15%) etc. 8) About 4-6 weeks later after treatment(INH, RFP, PZA, EMB), 26 cases(65%) were improved on clinical symptoms or chest X-ray, 12 cases(30%) were stationary or aggravated, and 2 cases(5%) were died. Conclusion: For the early diagnosis and treatment of miliary tuberculosis, we must see its presentation and manifestation with greater interest and suspicion and investigate its predisposing factors and accompanying diseases.

• Clinical and Experimental Reproductive Medicine
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• v.31 no.2
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• pp.133-139
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• 2004

Objective: To investigate the association of FSH receptor (FSHR) polymorphism at position 680 with outcomes of controlled ovarian hyper-stimulation for IVF-ET in Korean women. Design: Genetic polymorphism analysis. Materials and Methods: The FSHR polymorphism was analyzed by PCR-RFLP in 172 ovulatory women below the age of 40 year. Patients with polycystic ovary syndrome, endometriosis, or previous history of ovarian surgery were excluded. Results: Genotype distribution was 41.9% for the Asn/Asn, 47.7% for the Asn/Ser, and 10.5% for the Ser/Ser FSHR genotype group. There was no difference in age of subjects and infertility diagnosis between genotype groups. When the patients were grouped according to their FSHR genotype, the basal levels of FSH (day 3) were significantly different among the three groups ($6.0{\pm}0.3\;IU/L$ (mean $\pm$ SEM), $5.8{\pm}0.3\;IU/L$, and $8.6{\pm}1.2\;IU/L$ for the Asn/Asn, Asn/Ser, and Ser/Ser groups, respectively, p=0.002). The Ser/Ser group showed a higher total doses of gonadotropins required to achieve ovulation induction, and a lower serum estradiol levels at the time of hCG administration compared with other two groups, but the differences were of no statistical significance. The numbers of oocytes retrieved were significantly different among the three groups ($8.6{\pm}0.8$, $9.9{\pm}0.6$, and $6.3{\pm}0.9$, for the Asn/Asn, Asn/Ser, and Ser/Ser groups, respectively, p=0.049). Clinical pregnancy rates were 42.4%, 25.9%, and 29.4% for the Asn/Asn, Asn/Ser, and Ser/Ser groups, respectively. Conclusion: Homozygous Ser/Ser genotype of FSHR polymorphism at position 680 was associated with decreased ovarian response to gonadotropin stimulation for IVF-ET.

• Journal of Genetic Medicine
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• v.5 no.2
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• pp.139-144
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• 2008

We report on two cases of pericentric inversion of X chromosome. The cases were found in a 40-year-old man with azoospermia and in a family of a 38-year-old pregnant woman. The first case with 46,Y,inv(X)(p22.1q27) had concentrations of LH, prolactin, estradiol, and testosterone that were within normal ranges; however, FSH levels were elevated. Testis biopsy revealed maturation arrest at the primary and secondary spermatocytes without spermatozoa. There were no microdeletions in the 6 loci of chromosome Y. For the second case, the cytogenetic study of thepregnant woman referring for advanced maternal age and a family history of inversion X chromosome was 46,X,inv(X)(p22.11q27.2). The karyotype of her fetus was 46,X,inv(X)(p22.1q27). Among other family members, the karyotypes of an older sister in pregnancy and her fetus were 46,X,inv(X)(p22.11q27.2), and 46,Y,?inv(X), respectively. The proband's father was 46,Y,inv(X)(p22.11q27.2). All carriers in the family discussed above were fertile and phenotypically normal. In addition, the ratio of inactivation of inv(X) by RBG-banding was discordant between the two sisters, with the older sister having only 4.1% of cells carrying inactivated inv(X) while the proband had a 69.5% incidence of late replicating inv(X). Therefore, we suggest that the cause of azoospermia in the first case might be related to inversion X chromosome with positional effect. Also, the family of the second case showing normal phenotype of the balanced inv(X) might be not affected any positional effect of genes.

• Clinical and Experimental Reproductive Medicine
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• v.37 no.4
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• pp.321-327
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• 2010

Objective: To evaluate the significance and efficacy of trans-cervical fallopian tube catheterization (TFTC) in diagnosis and optimal treatment modality for tubal blockage. Methods: The retrospective study was performed in those underwent TFTC from January 2005 to December 2009. A total of 342 fallopian tubes in 215 patients which showed tubal blockage in hysterosalpingography (HSG), were subjected to TFTC. Recanalization rate (RR) was compared according to portion of tubal blockage; proximal, isthmic and distal portion and blockage type; tapering, concave, and convex type. Results: In total, RR was 72.5% (248/342 tube). According to the portion of tubal blockage, RR was 83.8% in proximal, 45.6% in isthmic and 100% in distal portion. RR was 92.3% in tapering, 80.2% in concave and 25.5% in convex type, respectively. There were 98 pregnancies in 156 patients after successful recanalization, which shows 62.7% pregnancy rate. Conclusio: TFTC were capable of recanalizing tubal blockage in 248 of 342 tubes in 156 of 215 patients (72.5%). The RR was increased with proximal portion and tapering type tubal blockage.

• Clinical and Experimental Pediatrics
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• v.49 no.4
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• pp.381-387
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• 2006

Purpose : Neonatal lupus is characterized by congenital complete heart block(CCHB), cutaneous rash, and laboratory abnormalities in infants born to mothers with systemic lupus erythematosus(SLE). This study aims to examine the incidence of CCHB and clinical outcome in neonates born to mothers with SLE. Methods : The study group consisted of 49 neonates, born from 57 pregnancies of 55 women with SLE, diagnosed at Hanyang University Hospital for the period between January 1997 and January 2005. Clinical and laboratory data were retrospectively identified from medical record. Results : There were 5(8.8 percent) spontaneous abortions and one(1.8 percent) still births among 57 pregnancies of 55 mothers. Of 49 live births, 15(26.3 percent) were premature and eight(12.3 percent) were small for their gestational age. There was one(1.8 percent) CCHB suspected during pregnancy on fetal echocardiograpy in a fetus of mother with systemic lupus erythematosus and the fetus was not born by artificial abortion because of mother. There was no CCHB among EKG findings of 49 newborns. Laboratory testing showed hematologic abnormalities among 25.6 percent(10/39) of the babies. 5.1 percent(2/39) and 7.7 percent(3/39) of them were diagnosed as neutropenia, and thrombocytopenia was seen respectively. Anti-SSA(Ro) and antiphospholipid antibodies were predictive factors for prematurity(P=0.003, P=0.049). Anticardiolipin antibodies were predictive factors for ventilatory care(P=0.018). Conclusion : The incidence of CCHB among neonates born to mothers with SLE, which was measured in this study, was lower than that in earlier studies. A high incidence of hematologic abnormalities was found in our study. It is suggested that careful examination should be made of skin for the diagnosis of neonatal lupus.