• Clinical and Experimental Pediatrics
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• 제55권11호
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• pp.438-444
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• 2012

Mucolipidosis II (ML II) or inclusion cell disease (I-cell disease) is a rarely occurring autosomal recessive lysosomal enzyme-targeting disease. This disease is usually found to occur in individuals aged between 6 and 12 months, with a clinical phenotype resembling that of Hurler syndrome and radiological findings resembling those of dysostosis multiplex. However, we encountered a rare case of an infant with ML II who presented with prenatal skeletal dysplasia and typical clinical features of severe secondary hyperparathyroidism at birth. A female infant was born at $37^{+1}$ weeks of gestation with a birth weight of 1,690 g (<3rd percentile). Prenatal ultrasonographic findings revealed intrauterine growth retardation and skeletal dysplasia. At birth, the patient had characteristic features of ML II, and skeletal radiographs revealed dysostosis multiplex, similar to rickets. In addition, the patient had high levels of alkaline phosphatase and parathyroid hormone, consistent with severe secondary neonatal hyperparathyroidism. The activities of ${\beta}$-D-hexosaminidase and ${\alpha}$-N-acetylglucosaminidase were moderately decreased in the leukocytes but were 5- to 10-fold higher in the plasma. Examination of a placental biopsy specimen showed foamy vacuolar changes in trophoblasts and syncytiotrophoblasts. The diagnosis of ML II was confirmed via GNPTAB genetic testing, which revealed compound heterozygosity of c.3091C>T (p.Arg1031X) and c.3456_3459dupCAAC (p.Ile1154GlnfsX3), the latter being a novel mutation. The infant was treated with vitamin D supplements but expired because of asphyxia at the age of 2 months.

• 대한간호학회지
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• 제35권5호
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• pp.798-809
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• 2005

Purpose: This study was performed to investigate the quantities of three neo-maternal exposures; visiting frequency, auditory contact and physical contact, and to examine the relationship between the quantities of each exposure and maternal attachment, maternal self-esteem and postpartum depression in 40 mothers of NICU babies during the first week in the NICU. Method: Each neo-maternal exposure was counted at every mother's visit to the newborn and maternal attachment, maternal self-esteem and postpartum depression were measured using the maternal attachment inventory, the maternal self-report inventory and Edinburgh Postpartum Depression Scale (EPDS) on the first and seventh day in the NICU. Result: The Mean of each neo-maternal exposure was 8.77(2.81) for the visiting frequency, 5.82(3.66) for the auditory contact and 5.60(2.89) for the physical contact during 7 days in the NICU. No significant changes were found in the scores of maternal attachment, maternal self-esteem and postpartum depression between the first and the seventh day in the NICU. The quantities of neo-maternal exposures were positively related to the scores of maternal attachment and maternal self-esteem but not related to postpartum depression. Conclusion: The results of the study suggest the lack of early neo-maternal exposure in cases of NICU hospitalization negate its beneficial effects on maternal psychological well-being in increasing maternal attachment and self-esteem. More efforts are neededfor the neo-maternal interaction and the reevaluation of NICU visitation hours in order to promote maternal-infant interaction.

• Archives of Plastic Surgery
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• 제34권4호
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• pp.528-530
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• 2007

Purpose: Holoprosencephaly(HPE) is a rare developmental defect due to incomplete cleavages of the prosencephalon during the third week of fetal development. Chromosomal anomalies, genetic syndrome, teratogen, or genetic disorder of non-syndromic HPE are usually accepted as etiology. The consequences of prechordal mesoderm defect are varying degrees of deficit of midline facial development, especially the median nasal process(premaxilla), and incomplete morphogenesis of the forebrain. We experienced a case of lobar HPE with complete cleft lip and palate. Methods: A female newborn infant was born at $38^{+6}$ weeks' gestational age via NSVD. The infant's birth weight was 3.6 kg, height 52 cm, and head circumference 32.5 cm, showing microcephaly, flat nose, median complete cleft lip & palate, and hypotelorism, along with defects of midfacial development including losses of premaxilla, philtrum, nasal septum, and columella. Results: There were no specific findings noted from the head and neck X-ray and tests for endocrine and metabolic disorders, but clinical characteristics of midface and dysgenesis corpus callosum on brain MRI were seen, so that this case was diagnosed with HPE. Conclusion: HPE is divided into three categories of alobar, semilobar, and lobar prosencephaly according to the degree of cerebral hemisphere separation. Assesment of patient's brain abnormality and malformation is essential in determining the extent and benefit of surgical intervention. This case was included in the lobar type HPE which shows relatively good prognosis compared with other types and reconstruction of median complete cleft lip & palate and midfacial defects will be performed.

• Clinical and Experimental Pediatrics
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• 제61권10호
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• pp.322-326
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• 2018

Purpose: The EDIN scale (${\acute{E}}chelle$ Douleur Inconfort Nouveau-$N{\acute{e}}$, neonatal pain and discomfort scale) and heart rate variability has been used for the evaluation of prolonged pain. The aim of our study was to assess the value of the newborn infant parasympathetic evaluation (NIPE) index and EDIN scale for the evaluation of prolonged pain in preterm infants with chest tube placement due to pneumothorax. Methods: This prospective observational study assessed prolonged pain in preterm infants with a gestational age between 33 and 35 weeks undergoing installation of chest tubes. Prolonged pain was assessed using the EDIN scale and NIPE index. Results: There was a significant correlation between the EDIN scale and NIPE index (r=-0.590, P=0.003). Prolonged pain is significantly more severe in the first 6 hours following chest tube installation (NIPE index: 60 [50-86] vs. 68 [45-89], P<0.002; EDIN score: 8 [7-11] vs. 6 [4-8], P<0.001). Conclusion: Prolonged pain can be accurately assessed with the EDIN scale and NIPE index. However, evaluation with the EDIN scale is time-consuming. The NIPE index can provide instantaneous assessment of prolonged and continuous pain.

• Neonatal Medicine
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• 제18권2호
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• pp.370-373
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• 2011

Citrin deficiency는 염색체 7q21.3의 SLC25A13 유전자 돌연변이에 의해 발생하는 상염색체 열성질환으로 neonatal-onset type II citrullinemia (CTLN2) 및 adult-onset CTLN2로 분류된다. 생후 16일된 여아가 신생아 대사 검사에서 citrullinemia (CTLN)가 의심되었고 혈중 아미노산 분석에서 CTLN 및 고암모니아혈증을 보였고, SLC25A13 유전자 분석 결과 c.221C>T in exon4 and c.1645C in exon16 (p.[Ser74Phe]+[Gln549X]) 의 새로운 돌연변이가 발견되어 neonatal-onset CTLN2로 진단되었다. 저자들은 신생아 대사 검사에서 citrullinemia를 보이는 영아들에서 확진을 위한 유전자 검사 및 혈중 아미노산 분석이 필요하다고 생각한다.

• Neonatal Medicine
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• 제15권1호
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• pp.105-110
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• 2008

신생아 간농양은 특별한 증상이 발현되지 않거나 비특이적인 증상 때문에 진단이 늦어지는 경우가 많다. 항생제의 사용에도 불구하고 염증 반응이 지속되며 복부증상이 함께 나타나는 경우, 주산기 산모의 심한 감염, 융모양막염 등의 선행인자가 있고, 제대혈관 도관과 관련된 패혈증이 있는 경우에는 간농양의 가능성을 고려해야 한다. 저자들은 생후 9일된 미숙아에서 제대정맥 도관과 함께 산모의 폐렴 및 심한 융모양막염이 선행요인이 되어, 단일성 간농양이 발생한 진단된 사례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• Neonatal Medicine
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• 제25권2호
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• pp.66-71
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• 2018

Purpose: Respiratory morbidity is the most common problem among neonates admitted to neonatal intensive care units. Therefore, the aim of this study was to make a differential diagnosis between transient tachypnea of the newborn (TTN), respiratory distress syndrome (RDS), and pneumonia through comparison of clinical features and test results. Methods: This retrospective study was conducted in 86 infants with TTN, RDS, or pneumonia. These were infants who had respiratory distress, were born after ${\geq}34$ weeks of gestation, and transferred to the neonatal intensive care unit of Kosin University Gospel Hospital between June 1, 2011 and June 30, 2016. Results: The numbers (percentage) of infants with TTN, RDS, and pneumonia were 51 (59.3%), 20 (23.3%), and 15 (17.4%), respectively. Late-preterm and early-term newborns accounted for 65.1% of the infants. Tachypnea was observed in 74.4% of the neonates. The median age at admission was 4 hours (0 to 116) after birth. The infants with RDS had significantly lower birth weights, pH levels, base excess and oxygen saturation levels at admission, longer duration of total ventilator therapy, and hospital stay than those in the other two groups. The infants with pneumonia showed significantly high initial high-sensitivity C-reactive protein levels and significant chest radiographic findings. Conclusion: Early differential diagnosis for TTN, RDS, and pneumonia is challenging because they show similar respiratory symptoms at an early stage. Clinical features and test results can be used to determine the etiology of respiratory distress and early antibiotic treatment.

• Journal of Microbiology and Biotechnology
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• 제24권6호
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• pp.812-822
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• 2014

Metagenomic analysis of the human intestinal microbiota has extended our understanding of the role of these bacteria in improving human intestinal health; however, a number of reports have shown that current total fecal DNA extraction methods and 16S rRNA universal primer sets could affect the species coverage and resolution of these analyses. Here, we improved the extraction method for total DNA from human fecal samples by optimization of the lysis buffer, boiling time (10 min), and bead-beating time (0 min). In addition, we developed a new long-range 16S rRNA universal PCR primer set targeting the V6 to V9 regions with a 580 bp DNA product length. This new 16S rRNA primer set was evaluated by comparison with two previously developed 16S rRNA universal primer sets and showed high species coverage and resolution. The optimized total fecal DNA extraction method and newly designed long-range 16S rRNA universal primer set will be useful for the highly accurate metagenomic analysis of adult and infant intestinal microbiota with minimization of any bias.

• 한국미생물·생명공학회지
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• 제46권4호
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• pp.425-429
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• 2018

Ureaplasma urealyticum (UU) infection can spread rapidly across populations and is associated with cervical intraepithelial neoplasms, human papillomavirus infections, and newborn mortality. This study aimed to provide information that could be used to protect public health and decrease the incidence and transmission of sexually transmitted infections (STIs), particularly among childbearing women. We examined the epidemiology of UU infection in Cheonan, South Korea. During 2006-2017, 4,050 specimens were submitted for STI screening using a multiplex polymerase chain reaction (PCR) assay. Data were analyzed for UU infection cases using the R statistical program and categorical data were analyzed using the chi-square test, and p-values <0.05 were considered statistically significant. Positive PCR results were shown in 17.8% of the total specimens, in 9.0% of men, and in 18.7% of women. Individuals in their teenaged years and individuals aged 20-29 years accounted for the largest proportions of UU-positive specimens. Although Mycoplasma hominis was the most prevalent bacterium in 2006, it was superseded by UU in 2017. Of the 870 UU-positive specimens, 50.1%, 33.1%, 13.4%, and 2.8% had single, double, triple, and quadruple infection, respectively. UU was most common among Korean individuals aged 20-29 years, indicating a high risk of maternal-to-infant transmission that should be addressed through rapid diagnosis, treatment, and management.

• 복식
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• 제59권7호
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• pp.1-16
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• 2009

This study is on the children's clothing in Seoul Gyeonggi-do, Chungcheong-do and Gangwon-do between the $1920s{\sim}1950s$, by comparing positive data collected from pictures and literatures, remains and interviews. A baenaet jeogori was made of soft white cotton fabrics and was used as a charm when the baby had grown and had an test or a big occasion. A dureong chima and pungcha trousers were clothes for both boys and girls from their birth to the age of $4{\sim}5$ when they could have bowel movements by themselves. Occasions for celebrating a baby's growth were the one-hundredth day and the first birthday. In general, ordinary families had their babies' one-hundredth day in a simple way without special clothes. On the first birthday, however, even ordinary families prepared new clothes for their babies, and read their fortune and prayed for their well being and long life through events such as doljabi. In the age when medicine was poor and the infant mortality was high, the meaning of such a ceremony was to congratulate on the baby's safe growth through dangerous moments.