• Clinical and Experimental Reproductive Medicine
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• v.8 no.1
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• pp.23-34
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• 1981

In order to study twin pregnancies, a retrospective survey was carried out in Yonsei University, Severance Hospital. Twin deliveries during 1967-1976 numbered altogether 264, and their relative frequency was 1.30%. Clinical palpation in addition to auscultation and roentgenologic technique had been used in the twin diagnosis. The diagnosis was made prior to delivery in 93.18% of the cases. The deliveries took place in the 37.26th (S.D. 3.95) gestational weeks on an average. The mean weights of the infants were-A (first baby) 2416.03g. (S.D. 802.61), and B (second baby) 2299.81g. (S.D. 190.31). The most common manner of twin delivery was spontaneous vaginal delivery. Cesarean section was done in 14.39%, of which the most common indication was hypotonic uterine dysfunction (34.21 %). Low one minute Apgar scores occured more often in B twins than among A twins. Breech delivery gave low one minute Apgar scores more often than did spontaneous vertex delivery in both twins. Full term twins and infants weighing more than 2500g. had fewer low one minute Apgar scores than the preterm infants and those with low birth weight. Perinatal mortality (PNM) in the total series was 14.77% (A 12.50% and B17.05%). The most common cause of perinatal mortality was prematurity in 44.87%. The worst outcome was recorded for the age groups 15-19 and ${\geqq}$40, in which perinatal mortality were 50.00%, respectively. The perinatal mortality of both A and B infants was lowest in the group diagnosed early during antenatal care before delivery. On the basis of our findings, we wish to emphasize particularly the importance of the early diagnosis of twins.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.23 no.4
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• pp.181-187
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• 2012

Objectives:The objective of this study was to examine the perinatal and developmental risk factors of attention-deficit hyperactivity disorder (ADHD) diagnosed with a structured interview among Korean children. Methods:The current study included 924 children (6-15 years) recruited from schools in five Korean cities or a child psychiatry outpatient clinic of Seoul National University Children's Hospital. The parents of the children completed the structured diagnostic interview for attention-deficit hyperactivity disorder, as well as questionnaires on perinatal and developmental risk factors. Results:Preterm delivery, severe maternal stress during pregnancy, change in primary care taker during the first three years, postpartum depression, and delayed first sentence showed a significant association with ADHD diagnosis. Conclusion:These findings suggest that perinatal and developmental factors contribute to development of ADHD in Korean children. Conduct of future research using a prospective design is needed in order to identify the causal relationship between observed risk factors and development of ADHD.

• Pediatric Infection and Vaccine
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• v.18 no.1
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• pp.85-90
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• 2011

In 2008, the Joint United Nations Programme on HIV/AIDS (UNAIDS) estimated that about 430,000 children worldwide became infected with HIV, mostly through mother-to-child transmission (MTCT) during pregnancy, labor, delivery, or breastfeeding. The MTCT prevention program proved to be feasible and effective in reduction of perinatal HIV transmission. Three babies born from HIV-infected mothers were admitted to the National Medical Center in 2009. Only two women received antiretroviral (ARV) therapy during pregnancy, labor, and after delivery, and their infants received zidovudine (AZT) for 6 weeks. The outcome, after a follow-up period of 4 months to 16 months, was favorable in all patients. Thus, we emphasize the need for expansion of antenatal HIV screening of pregnant women, implemented for early HIV diagnosis and effective ARV therapy for reduction of perinatal HIV transmission.

• Journal of Yeungnam Medical Science
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• v.38 no.3
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• pp.240-244
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• 2021

Imperforate anus is an anomaly caused by a defect in the development of the hindgut during early pregnancy. It is a relatively common congenital malformation and is more common in males. Although there are cases of a solitary imperforate anus, the condition is more commonly found as a part of a wider spectrum of other congenital anomalies. Although urgent reconstructive anorectal surgery is not necessary, immediate evaluation is important and urgent decompressive surgery may be required. Moreover, as there are often other anomalies that can affect management, prenatal diagnosis can help in optimizing perinatal care and prepare parents through prenatal counseling. In the past, imperforate anus was diagnosed by prenatal ultrasonography based on indirect signs such as bowel dilatation or intraluminal calcified meconium. Currently, it is diagnosed by directly checking the perineum with prenatal ultrasonography. Despite advances in ultrasound technology, accurate prenatal diagnosis is impossible in most cases and imperforate anus is detected after birth. Here, we present two cases of imperforate anus in female fetuses that were not diagnosed prenatally.

• Advances in pediatric surgery
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• v.1 no.2
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• pp.204-208
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• 1995

Neonatal adrenal hemorrhage is frequently associated with birth trauma or perinatal hypoxia. Hemorrhagic necrosis of the adrenal glands is often found at autopsy and many small lesions are usually asymptomatic. A palpable abdominal mass and jaundice are the usual presenting signs. Ultrasound is very useful in the diagnosis of this lesion; however, if the mass has mixed echoic pattern, magnetic resonance imaging (MRl) is helpful for the differential diagnosis from neuroblastoma. We present the case of a female newborn who was found to have a abdominal mass on physical examination. The patient showed anemia and hyperbilirubinemia. An ultrasonogram disclosed a $3.8{\times}3.0$ cm suprarenal mass with mixed echoic pattern. The mass was initially suspected to be neuroblastoma. An abdominal computed tomogram was not able to differentiate the mass. Magnetic resonance imaging revealed markedly increased signal intensity on T1 and T2-weighted sequences. This finding was consistent with adrenal hemorrhage. Serial sonogram demonstrated the mass that resolved completely by 12 weeks of age.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.3
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• pp.141-147
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• 2016

Hypophosphatasia is caused by the mutations in ALPL, which encodes tissue-nonspecific alkaline phosphatase (TNSALP). It can be inherited either in an autosomal dominant or recessive manner. Clinically, hypophophosphatasia is characterized by skeletal findings similar to those in rickets or osteomalacia, but serum alkaline phosphatase levels are decreased in the affected patients. Hypophosphatasia can be classified into six clinical forms according to age at diagnosis and severity of symptoms: perinatal lethal, infantile, childhood, adult, odontohypophosphatasia, and perinatal benign. As being a very rare disease, only one case has been reported in Korean population. Here we describe a case with perinatal benign hypophosphatasia with recessive ALPL mutations. Bowing of lower legs was detected in prenatal period and low serum alkaline phosphatase level was noted after birth. During the follow-up evaluation for 4.5 years, bone mineralization and legs bowing were improved but the growth retardation was persistent. As the recombinant bone-targeted human TNSALP became available, the clinical improvement of the affected patients is expected including the case described here with this treatment. More efforts are needed to identify the cases affected by hypophosphatasia.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.34 no.1
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• pp.37-44
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• 2023

Objectives: Tic disorders are highly heritable; however, growing evidence suggests that environmental factors play a significant role in their pathogenesis. Studies on these factors have been inconsistent, with conflicting results. Therefore, this study aimed to examine the associations of pre- and perinatal exposure to Tourette syndrome (TS) or chronic tic disorders (CTD) in Korean school-aged children. Methods: This case-control study used data from a large prospective cohort study. The primary outcome was TS/CTD diagnosis according to the Diagnostic and Statistical Manual of Mental Disorders, 5th edition (DSM-5) criteria and Kiddie-Schedule for Affective Disorders and Schizophrenia-Present and Lifetime Version-Korean Version. Demographic, pre-, and perinatal information was obtained from the maternal questionnaires. Data between the TS/CTD and control groups were compared using the chi-squared or Student's t-test, as appropriate. Two-step logistic regression analyses were used to test the association between TS/CTD and pre- and perinatal risk factors. Results: We included of 223 children (78 with TS/CTD and 145 controls). Significant differences in the demographic data between the two groups were observed. The male sex ratio, mean parental age, parental final education level, and family history of tics were included as confounders. In the final adjusted multivariable model, TS/CTD was significantly associated with antiemetic exposure during pregnancy (odds ratio [OR]=16.61, 95% confidence interval [CI] 1.49-185.22, p=0.02) and medically assisted reproduction (OR=7.89, 95% CI 2.28-27.28, p=0.01). Conclusion: Antiemetic exposure and medically assisted reproduction are significantly associated with the risk of TS/CTD. These results should be replicated in future prospective and gene-by-environment studies.

• Journal of mucopolysaccharidosis and rare diseases
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• v.2 no.1
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• pp.19-22
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• 2016

Purpose: Mucolipidosis type II (ML II), also known as I-cell disease is an autosomal recessive inherited disorder of lysosomal enzyme transport caused by a deficiency of the uridine diphosphate (UDP)-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase). Clinical manifestations are skeletal abnormalities, mental retardation, cardiac disease, and respiratory complications. A severely and rapidity progressive clinical course leads to death before 10 years of age. Methods/Results: In this study we diagnosed three cases of prenatal ML II in two different at-risk families. We compared two procedures -biochemical analysis and molecular analysis - for the prenatal diagnosis of ML II. Both methods require an invasive procedure to obtain specimens for the diagnosis. Biochemical analysis requires obtaining cell cultures from amniotic fluid for more than two weeks, and would result in a late diagnosis at 19 to 22 weeks of gestation. Molecular genetic testing by direct sequence analysis is usually possible when mutations are confirmed in the proband. Molecular analysis has an advantage in that it can be performed during the first-trimester. Conclusion: Molecular diagnosis is a preferable method when a prompt decision is necessary.

• Parasites, Hosts and Diseases
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• v.54 no.2
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• pp.191-195
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• 2016

The aim of this study was to evaluate different methods for Trichomonas vaginalis diagnosis during pregnancy in order to prevent maternal and perinatal complications. A total of 386 vaginal exudates from pregnant women were analyzed. T. vaginalis was investigated by 3 types of microscopic examinations direct wet mount with physiologic saline solution, prolonged May-Grunwald Giemsa (MGG) staining, and wet mount with sodium-acetate-formalin (SAF)/methylene blue method. PCR for 18S rRNA gene as well as culture in liquid medium were performed. The sensitivity and specificity of the microscopic examinations were evaluated considering the culture media positivity or the PCR techniques as gold standard. The frequency of T. vaginalis infection was 6.2% by culture and/or PCR, 5.2% by PCR, 4.7% by culture, 3.1% by SAF/methylene blue method and 2.8% by direct wet smear and prolonged MGG staining. The sensitivities were 83.3%, 75.0%, 50.0%, and 45.8% for PCR, culture, SAF/methylene blue method, and direct wet smear-prolonged MGG staining, respectively. The specificity was 100% for all the assessed methods. Microscopic examinations showed low sensitivity, mainly in asymptomatic pregnant patients. It is necessary to improve the detection of T. vaginalis using combined methods providing higher sensitivity, such as culture and PCR, mainly in asymptomatic pregnant patients, in order to prevent maternal and perinatal complications.

• Clinical and Experimental Pediatrics
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• v.58 no.4
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• pp.117-122
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• 2015

Global developmental delay (GDD) is a relatively common early-onset chronic neurological condition, which may have prenatal, perinatal, postnatal, or undetermined causes. Family history, physical and neurological examinations, and detailed history of environmental risk factors might suggest a specific disease. However, diagnostic laboratory tests, brain imaging, and other evidence-based evaluations are necessary in most cases to elucidate the causes. Diagnosis of GDD has recently improved because of remarkable advances in genetic technology, but this is an exhaustive and expensive evaluation that may not lead to therapeutic benefits in the majority of GDD patients. Inborn metabolic errors are one of the main targets for the treatment of GDD, although only a small proportion of GDD patients have this type of error. Nevertheless, diagnosis is often challenging because the phenotypes of many genetic or metabolic diseases often overlap, and their clinical spectra are much broader than currently known. Appropriate and cost-effective strategies including up-to-date information for the early identification of the "treatable" causes of GDD are needed for the development of well-timed therapeutic applications with the potential to improve neurodevelopmental outcomes.