• 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.

• Journal of Genetic Medicine
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• v.8 no.1
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• pp.71-75
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• 2011

A male infant was diagnosed with obstetric brachial plexus injury, congenital muscular torticollis and cleft palate 17 days after birth. His mother presented with gestational diabetes and premature rupture of membranes. Although it is possible that these three disorders arose independently, it is very likely that all three have the same etiologic cause, and we propose that a possible mechanism for this concurrence is related to maternal gestational diabetes. Maternal hyperglycemia mostly affects fetal structures deriving from the neural crest, including the palatine bone, and may have caused the cleft palate observed in this case. Gestational diabetes is also associated with increased frequency of large for gestational age infants and, by extension, with increased risk of birth injuries such as obstetric brachial plexus injury or congenital muscular torticollis associated with large for gestational age infants. Since the children of mothers with gestational diabetes are at increased risk for congenital defects such as cleft palate as well as being large for gestational age, precautions indicated for each respective disorder must be taken during prenatal testing and during birth. However, further studies of more cases are required to evaluate whether the concurrence of obstetric brachial plexus injury, congenital muscular torticollis and cleft palate in this case are complications specifically associated with gestational diabetes or just a simple coincidence.

• Journal of the Korea Academia-Industrial cooperation Society
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• v.22 no.6
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• pp.314-320
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• 2021

With the increasing age of motherhood in recent years, attributed to late marriages due to social or environmental factors, the Down's syndrome screening test using biochemical markers has become essential for pregnant women. The process of diagnosing Down's syndrome pregnancy in the high-risk group subjects involves chromosomal analysis, which is performed on samples obtained through invasive procedures such as chorionic biopsy or amniotic fluid. Thus, to reduce unnecessary invasive tests and lower the risk to mother and fetus, it is important to identify a screening test with low risk and high Down's syndrome detection rate. Recently, as the average age of mothers has increased, numerous inspection agencies have classified high-risk mothers as women over the age of 35 years. This study evaluated a total of 36,436 pregnant women aged between 17 to 46 years, and who requested prenatal screening at an inspection agency in Yongin in 2018. Test (13,690 people) Four tests were conducted by applying the time-resolved fluoroimmunoassay method using the direct sandwich and indirect sandwich technology, and the immunoassay method using the sandwich method. We aimed to confirm the difference in positivity rate with increasing age of the subjects. We believe that in future, data obtained from this study will be very useful for the prevention and treatment of Down's syndrome risk at varied inspection institutions, and for prospective mothers.

• Clinical and Experimental Pediatrics
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• v.48 no.11
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• pp.1179-1186
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• 2005

Purpose : A universal standard of the birth weight for gestational age cannot be made since girth weight distribution varies with race and other sociodemographic factors. This report aims to establish the birth weight distribution curve by gestational age, specific for Korean live births. Methods : We used the national birth certificate data of all live births in Korea from January 2001 to December 2003; for live births with gestational ages 24 weeks to 44 weeks(n=1,509,763), we obtained mean birth weigh, standard deviation and 10th, 25th, 50th, 75th and 90th percentile values for each gestational age group by one week increment. Then, we investigated the birth weight distribution of each gestational age group by the normal Gaussian model. To establish final standard values of Korean birth weight distribution by gestational age, we used the finite mixture model to eliminate erroneous birth slights for respective gestational ages. Results : For gestational ages 28 weeks 32 weeks, birth weight distribution showed a biologically implausible skewed tail or bimodal distribution. Following correction of the erroneous distribution by using the finite mixture model, the constructed curve of birth weight distribution was compared to those of other studies. The Korean birth weight percentile values were generally lower than those for Norwegians and North Americans, particularly after 37 weeks of gestation. The Korean curve was similar to that of Lubchenco both 50th and 90th percentiles, but generally the Korean curve had higher 10th percentile values. Conclusion : This birth weight distribution curve by gestational age is based on the most recent and the national population data compared to previous studies in Korea. We hope that for Korean infants, this curve will help clinicians in defining and managing the large for gestational age infants and also for infants with intrauterine growth retardation.

• Childhood Kidney Diseases
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• v.11 no.1
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• pp.83-91
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• 2007

Purpose : Childhood primary VUR is generally diagnosed after urinary tract infection, is more prevalent among girls and has a low spontaneous resolution rate in cases of severe VUR. The aim of the present study is to examine the age and gender-related characteristics and the spontaneous resolution rate of infantile primary VUR. Methods : The medical records of 96 infants with primary VUR, diagnosed after their first UTI, were retrospectively reviewed(1995-2004). The clinical characteristics including gender, the degree of VUR and presence of renal scars were evaluated. The spontaneous resolution rate and contributing factors were also analyzed Results : Infantile primary VUR was more prevalent in males than females. The percentage of atrophic scarred kidney was significantly higher in males than females(17.2% vs 3.4%) (P<0.05). The cumulative spontaneous resolution rate in 3 years was very high(89.1%), and was not significantly different between gender and among VUR grades. But in the first year, the spontaneous resolution rate of severe refluxing ureters was significantly higher in males than in females(46.2% vs 7.1%)(P<0.05) and the spontaneous resolution rate of refluxing ureters with no scarred kidneys was significantly higher than those associated with atrophic scarred kidneys(76.6% vs 20%)(P<0.05). Conclusion : Infantile Primary VUR was more prevalent among males and tends to be associated with atrophic scarred kidneys In male infants. The cumulative spontaneous resolution rate in 3 years was very high, even in high-grade VUR and associated atrophic scarred kidneys. In infantile primary VUR, surgery should be withheld even in infants with high-grade VUR with atrophic scarred kidneys.

• Clinical and Experimental Pediatrics
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• v.45 no.12
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• pp.1528-1533
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• 2002

Purpose : Isolated noncompaction of the ventricular myocardium(INVM) is one of the unclassified cardiomyopathies that is characterized by numerous, excessively prominent trabeculations, and deep intertrabecular recesses. We performed this study to evaluate the clinical features of INVM in children. Methods : The medical records of 10 patients with INVM were reviewed. We analyzed the clinical manifestations, hemodynamics, pattern of inheritance, and long-term prognosis of INVM in children. Results : Age at diagnosis was $45{\pm}53months$(1 day-14 years) with follow-up lasting as long as 78 months. Most INVM was asymptomatic on diagnosis. Associated cardiac anomalies were noted in six patients(ventricualr or atrial septal defect, patent ductus arteriosus with mitral valve prolapse, or mitral valve cleft). Depressed or flat changes of T wave in lead II, III and aVF were observed on electrocardiography. Various arrhythmia including WPW syndrome with paroxysmal supraventricular tachycardia, third-degree atrioventricular block, and familial sick sinus node dysfuction were observed. The degree of trabeculation in INVM was significantly prominent from level of mitral valve to apex compared to age-matched control. Familial recurrences were noted in two patients. The systolic function of the left ventricle was decreased in 20% of patients during the follow-up period, but systemic embolism or ventricular tachycardia was not observed. Conclusion : INVM is not a rare disorder. The cardiac function may be deteriorated in children as well as adults during long-term follow up. Thus early diagnosis and long-term follow-up must be done. So, the nation-wide multicenter clinical study would be mandatory to evaluate the incidence, long-term prognosis, and establishment of objective diagnostic criteria of INVM.

• Journal of Yeungnam Medical Science
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• v.11 no.2
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• pp.352-362
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• 1994

To evaluate the effects of pregnancy-induced hypertension (PIH) to the iron status of fetuses, umbilical cord blood of 35 newborn infants borne by PIH mothers and of 37 normal term infants delivered at Yeungnam University Hospital from September 1, 1993 to September 30, 1994, were studied. The serum hemoglobin concentration of women with PIH was significantly higher than normal full-term pregnant women. There was no significant difference in serum hemoglobin concetration between women with PIH and normal full-term pregnant women and their newborn infants. There was no significant difference in serum hemoglobin concentration beween infants of women with PIH and normal full-term infants. The serum iron concentration of newborn infants of women with PIH was higher and the serum ferritin concentration of newborn infants of women with PIH was lower than normal full-term infants, but there were no significant difference between the two groups. The serum total iron-binding capactity and unsaturated iron-binding capacity of infants of women with PIH were significantly higher than normal full-term infants. The newborn infants of PIH women seemed that they might have occult depletion of iron store and need meticulous follow up during early neonatal period.

• Clinical and Experimental Pediatrics
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• v.51 no.5
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• pp.546-550
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• 2008

In this untreated classic phenylketonuria (PKU) case, mental retardation is severe; however, there have been individuals- like the mother of this case- who have escaped mental retardation and all the other potential sequelae of phenylketonuria, despite having high blood phenylalanine levels, and very poor dietary control. It appears that they have nearly normal brain phenylalanine levels despite high blood phenylalanine (Phe) levels. A number of studies have now demonstrated considerable variability in blood vs. brain phenylalanine levels in phenylketonuria patients. Outcome of phenylketonuria appears to be related to brain phenylalanine levels. We report a case of "undiagnosed" maternal phenylketonuria syndrome. A female infant had low birth weight (2,400 g) with microcephaly. We examined her family and discovered that her mother was an undiagnosed phenylketonuria patient with a borderline intelligence quotient (IQ). The infant's sister, six years old, was diagnosed with phenylketonuria at the age of four years was mentally retarded and had received an operation for cleft lip and palate. the sister had also had a low birth weight (2,300 g). Her sister and mother were compound heterozygotes (mother: R243Q/Y325X; sister: Y325X/P407S). The infant and father were heterozygous carriers (baby: R243Q/ -; father: P407S/ - ).

• 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.

• Clinical and Experimental Pediatrics
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• v.51 no.11
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• pp.1179-1184
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• 2008

Purpose : Pulmonary interstitial emphysema (PIE) primarily occurs in preterm infants suffering from respiratory distress syndrome (RDS) and kept under mechanical ventilator care. Therefore, this study aimed to examine various risk factors for PIE, to identify conditions that can decrease the possibility of PIE development. Methods : PIE classification was conducted for 183 patients diagnosed to have RDS and receiving mechanical ventilator care with pulmonary surfactant between March 2000 and February 2007. The characteristics of each patient were analyzed through retrospective examination of their medical histories. Results : Among 183 patients, 17 had PIE; all factors, including birth weight, gestational age, RDS grade III or above, chorioamnionitis, and premature rupture of membranes, were statistically significant (P<0.05). The period of mechanical ventilator use was statistically significant, but the peak mean airway pressure and peak partial pressure of inspired oxygen were not. PIE mainly occurred on the right side or both sides rather than the left side and mostly developed within 72 h. The PIE group showed higher mortality rate than the control group, and the major cause of mortality was pneumothorax. Conclusion : Risk factors for PIE in infants suffering from RDS and kept under mechanical ventilator care include low gestational age, low birth weight, chorioamnionitis, and premature rupture of membranes. If any risk factors are noted, the infant must be observed closely for at least 72 h after birth.