• BMB Reports
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• v.37 no.5
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• pp.522-526
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• 2004

Prader-Willi (PWS) and Angelman (AS) are syndromes of developmental impairment that result from the loss of expression of imprinted genes in the paternal (PWS) or maternal (AS) 15q11-q13 chromosome. Diagnosis on a clinical basis is difficult in newborns and young infants; thus, a suitable molecular test capable of revealing chromosomal abnormalities is required. We used a variety of cytogenetic and molecular approaches, such as, chromosome G banding, fluorescent in situ hybridization, a DNA methylation test, and a set of chromosome 15 DNA polymorphisms to characterize a cohort of 27 PWS patients and 24 suspected AS patients. Molecular analysis enabled the reliable diagnosis of 14 PWS and 7 AS patients, and their classification into four groups: (A) 6 of these 14 PWS subjects (44%) had deletions of paternal 15q11-q13; (B) 4 of the 7 AS patients had deletions of maternal 15q11-q13; (C) one PWS patient (8%) had a maternal uniparental disomy (UPD) of chromosome 15; (D) the remaining reliably diagnoses of 7 PWS and 3 AS cases showed abnormal methylation patterns of 15q11-q13 chromosome, but none of the alterations shown by the above groups, although they may have harbored deletions undetected by the markers used. This study highlights the importance of using a combination of cytogenetic and molecular tests for a reliable diagnosis of PWS or AS, and for the identification of genetic alterations.

• Women's Health Nursing
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• v.1 no.1
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• pp.28-43
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• 1995

The relationship between perceived social support and adaptation to maternal role for first-time mothers was investigated in this descriptive correlational study. A nonprobable sample of 90 first-time mothers were selected, who had uncomplicated perinatal experiences and delivered healthy and term newborns as well. The data was collected during a home interview at 4-6weeks postpartum. The outcome of adaptations was defined as the level of sensitivity in parent-infant interactions and of the self confidence in infant care. The perception of social support in the primiparous was assessed by the NSSQ during the postpartum. The results obtained from this study are summarized as follows : 1. The mean score of the perceived total functional support was $116.6{\pm}37.5$ points (affective : 38.1 affirmative : 39.3, aid : 39.3), and the score of the total network support was $45.2{\pm}13.9$ points (size : 4.9, duration :19.8 frequency : 20.4). These scores tended to be slightly low. 2. The mean score of the self confidence on the infant care activity as the subjective aspect of the maternal role adaptation (MRA) was 56.5 points (86.9%), whereas that of the sensitivity of the mother-infant interaction of the MRA was 78.9 points (63.2%). 3. The subjective aspect of the MRA has showed a positive relation ship with the aid dimension of the functional support. And the objective aspect of the MRA also showed a positive relationship with the total functional support and the total network support. However the correlating degrees were slightly low. In conclusion, the primiparous mothers perceived that they had received a small amount of social support during the postpartum period, suggesting the need of various kinds of social support to promote the MRA for the primiparous.

• Clinical and Experimental Pediatrics
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• v.53 no.2
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• pp.244-247
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• 2010

Spontaneous pneumomediastinum in the absence of predisposing risk factors has been rarely observed in full-term neonates. A 3-day-old neonate, delivered vaginally at term without any perinatal complications or signs of respiratory difficulty, was referred to the Seoul National University Children's Hospital because of reduced heart sound detected during routine neonatal examination. Chest computed tomography (CT) showed air collection in the anterior mediastinum. The baby developed respiratory distress on the fourth day and required supplemental oxygen. On the seventh day, there was no sign of respiratory difficulty, and x-ray examination showed no demonstrable pneumomediastinum. Hence, careful neonatal physical examination is essential during the postnatal assessment of newborns, and spontaneous pneumomediastinum should be considered when a healthy newborn presents with reduced heart sound.

• Clinical and Experimental Pediatrics
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• v.59 no.sup1
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• pp.14-18
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• 2016

Pediatric epilepsy can be caused by various conditions, including specific syndromes. 1p36 deletion syndrome is reported in 1 in 5,000-10,000 newborns, and its characteristic clinical features include developmental delay, mental retardation, hypotonia, congenital heart defects, seizure, and facial dysmorphism. However, detection of the terminal deletion in chromosome 1p by conventional G-banded karyotyping is difficult. Here we present a case of epilepsy with profound developmental delay and characteristic phenotypes. A 7-year-and 6-month-old boy experienced afebrile generalized seizure at the age of 5 years and 3 months. He had recurrent febrile seizures since 12 months of age and showed severe global developmental delay, remarkable hypotonia, short stature, and dysmorphic features such as microcephaly; small, low-set ears; dark, straight eyebrows; deep-set eyes; flat nasal bridge; midface hypoplasia; and a small, pointed chin. Previous diagnostic work-up, including conventional chromosomal analysis, revealed no definite causes. However, array-comparative genomic hybridization analysis revealed 1p36 deletion syndrome with a 9.15-Mb copy loss of the 1p36.33-1p36.22 region, and fluorescence in situ hybridization analysis (FISH) confirmed this diagnosis. This case highlights the need to consider detailed chromosomal study for patients with delayed development and epilepsy. Furthermore, 1p36 deletion syndrome should be considered for patients presenting seizure and moderate-to-severe developmental delay, particularly if the patient exhibits dysmorphic features, short stature, and hypotonia.

• Journal of Korean Academy of Nursing
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• v.16 no.3
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• pp.67-77
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• 1986

The research was carried out in order to assess, at an early stage, the potential barrier in mother-child relationship in the childs' development by using the screening tool. Consequently, after modifying the Neonatal Perception Inventory developed by Broussard and testing its reliability. It has been applied to 152 mothers at the hospital of three universities in Seoul from August 1 to September 30, 1986. The data was analyzed by S.P.S.S. pro-gram and the results were as follows: 1) Mothers perceived the newborn as an individual, and evaluated their baby higher than other babies. 2) Mothers indicated difficulties in their role performance in the fellowing order-bathing, safety, detecting pain or suffering, and feeding. 3) Mothers' perception of a newborn was positive for 75% of the mothers. 4) The factor analysis of the modified tool using principal components analysis and Varimax rotation resulted in the two factors: Factor 1, Baby as an individual: Factor Ⅱ, Performances are required to meet the new-born's needs. 5) The difference in mothers' individual characteristics such as the number of childbirth, the desire to get pregnant or not, the type of deli-very, and the sex of the newborn did not influence on a mothers' perception of her newborn. As seen above, most of the mothers perceived their newborns as able individuals and expressed difficulties involved in taking care of the newborn. Also most of the mothers perceived their babies positively. My point here is, we ought to observe those mothers who perceive their babies negatively, and then compare them with those mothers who perceive their babies extremely positive or extremely negative. In the future, for more comprehensive assessment tool for maternal perception of the newborn, a repetitive verification and modification of this tool is demanded. At the same time, father's perception of the newborn should be included.

• Clinical and Experimental Pediatrics
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• v.53 no.4
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• pp.598-602
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• 2010

Transient hyperammonemia in a newborn is an overwhelming disease manifested by hyperammonemic coma. The majority of affected newborns are premature and have mild respiratory syndrome. The diagnosis may be difficult to determine. This metabolic disorder is primarily characterized by severe hyperammonemia in the postnatal period, coma, absence of abnormal organic aciduria and normal activity of the enzymes of the urea cycle. Hyperammonemic coma may develop within 2-3 days of life, although its etiology is unknown. Laboratory studies reveal marked hyperammonemia (>$4,000{\mu}mol/L$). The degree of neurologic impairment and developmental delay in this disorder depends on the duration of hyperammonemic coma. Moreover, the infant may succumb to the disease if treatment is not started immediately and continued vigorously. Hyperammonemic coma as a medical emergency requires dialysis therapy. Here, we report a case of severe transient hyperammonemia in a preterm infant (35 week of gestation) presented with respiratory distress, seizure, and deep coma within 48 hours and required ventilatory assistance and marked elevated plasma ammonia levels. He survived with aggressive therapy including peritoneal dialysis, and was followed 2 years later without sequelae.

• Proceedings of the Korea Contents Association Conference
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• 2017.05a
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• pp.105-106
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• 2017

Background: Atopic dermatitis one of the most common chronic skin diseases, is caused by various environmental and genetic factors. Methods: A total of 2609 healthy newborns who were enrolled in the COCOA study (COCOA) from 2008 to 2015 were surveyed for indoor environmental exposure to fungi during gestation and then diagnosed postnatally for atopic dermatitis. The fungi collected during the gestation of 20 normal subjects and 20 infants that developed atopic dermatitis were identified using Illumina's MiSeq platform and analyzed for their diversity and species. Results: A total of 2,609 respondents were surveyed (52.8% male and 47.2% female) Children, 1, 2, and 3 years old diagnosed with atopic dermatitis comprised 15.2%, 15.7%, and 14.1% of the respondents, respectively. The prevalence of exposure to mold during gestation was 1.46 (95% CI, 1.05-2.04) and 1.52 (95% CI, 0.95-2.43), in the first and third years after birth, respectively. One-year-old children with atopic dermatitis and no fungal markers detected in the bathroom environment during gestation accounted for less than 5% (aOR, 1.51; 95%CI, 0.96-2.38) and in the group less than 5 ~ 30% (aOR, 2.21; 95%CI, 1.00-4.89), 3-year-old children had an increased prevalence of atopic dermatitis of more than 30% (aOR, 9.48, 95%CI 1.42-63.13). Conclusions: Exposure to indoor fungi during gestation and infancy is associated with the development of atopic dermatitis in children. The phyla and genera of the fungi in the indoor house dust differed during gestation. This suggests that exposure to indoor fungi during gestation may be associated with the development of atopic dermatitis in children. Future research will be necessary to establish the underlying mechanisms.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.3
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• pp.155-159
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• 2015

Citrin deficiency (OMIN #605814) is an autosomal recessive disorder caused by the SLC25A13 gene mutation with abnormal biochemical findings, including increased serum ammonia, citrulline, arginine, galactose, serum threonine-to-serine ratio, serum pancreatic secretory trypsin inhibitor, and alpha-fetoprotein. Citrin deficiency can manifest in three ways: in newborns as neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), in older children as failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD), and in adults as citrullinemia type 2 (CTLN2) with recurrent hyperammonemia and neuropsychiatric symptoms. We report a 35-day-old asymptomatic patient with citrin deficiency who had abnormal biochemical findings.

• Journal of Chest Surgery
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• v.32 no.1
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• pp.62-65
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• 1999

Infantile lobar emphysema is an uncommon disease affecting newborns and infants with varying degree of respiratory distress, lobar overaeration, mediastinal shift and herniation. Although the etiology of the condition is most commonly idiopathic, there is a clear association with congenital heart disease, particularly in the presence of pulmonary hypertension due to left to right shunt. Sites of predilection are the left main bronchus, the left upper and right middle bronchi. This report describes a two-week-old boy who had right middle lobe emphysema with large ventricular septal defect. At first, patch closure of perimembranous ventricular septal defect was performed. Postoperatively, the patient required continuing assisted ventilation and the lobar emphysema was not improve. One week following the initial operation, right middle lobectomy was successfully performed and the patient was weaned from artificial ventilator on the 5th postoperative day. The patient was discharged with good general condition on the 45th postoperative day.

• Korean Journal of Animal Reproduction
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• v.10 no.1
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• pp.58-65
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• 1986

The results from a survery on the reproduction of a, pp.oximately 500 dairy cows raised in four different farming areas including Cheju city, Jochun, Hallim and Sung-up are summarized as follows; 1. At the occurrence of first estrus, the average age of the heifers was 15.1 months (330 Kg/B.W.), and at first conception 18.0 months (354Kg/B.W.). There was no regional differences. 2. The average interval of the estrous cycle was 20.4 days. And the repetition of esturs after unsuccessful insemination occurred on an average of 1.6 times, especially 2.0 times in the herds of the Jochun district. 3. The ages at the first calving were similar to the data recorded for the domestic mainland's herds at 27.1 months. But some regional differences were recognized within the four districts: i.e. 28.6 (Cheju city), 27.4(Jochun), 27.1(Hallim) and 25.3 months (Sung-up). There was no significant differences in sex ratio of newborns at 50.4%(♂) and 49.6%(♀). 4. The intervals of esturs recurrence and the following conception after calving were 80.0 and 95.8 days respectively. In the followsing conception intervals after cavling, 90.6-97.4 days were average for the herds of Cheju city and Jochun districts, 62.4-69.7 days for those of Hallim and Sung-up districts. 5. The average gestation period was 279.8 days, and was almost identical in the four districts. 6. The calving intervals was 377.7 days in average, and it was shorter than the data recorded for the domestic mainland's herds. Also it was reduce gradually according to the calving frequency.