• Neonatal Medicine
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• v.18 no.2
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• pp.328-336
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• 2011

Purpose: An association between very low birth weight infants(VLBWI) and hearing loss has long been recognized. Early identification and intervention for hearing loss benefits language and speech/cognitive development. We investigated the risk factors and clinical outcomes of hearing loss among VLBWI. Methods: We analyzed the results of auditory brainstem response (ABR) testing of VLBWI. These infants were admitted to the neonatal intensive care unit (NICU) of Pusan National University Yangsan Hospital between December 2008 and February 2011. A follow-up was conducted subsequently. Results: ABR evaluations were performed on 65 infants, and 31 showed abnormal results (47.7%). Among the 31 infants, 10 were classified with moderate/severe/profound hearing loss (15.4%). The infants with abnormal ABR had a higher incidence of low birth weight, prolonged ventilator care, cumulative dose of furosemide, and the lowest $PaO_2$ (P<0.05). Those with moderate/severe/profound hearing loss had a higher incidence of low Apgar scores at 5 minutes (odds ratio[OR],0.34; 95% confidence interval[CI],0.13-0.89), prolonged ventilator care (OR,1.06; 95% CI,1.01-1.12), and mild hearing loss compared to those without profound hearing loss. Follow-up evaluations on eight infants with ABR reveled improvements 5.6${\pm}$3.9 months later. One infant, who had profound hearing loss in both ears, used a hearing aid. Conclusion: Factors influencing hearing loss at the first VLBWI hearing screening test included lower Apgar scores at 5 min and prolonged use of a ventilator. Most VLBWI with hearing losses were expected to recover after several months of follow-up.

• Clinical and Experimental Pediatrics
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• v.48 no.11
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• pp.1252-1255
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• 2005

Abnormalities in the levels of thyroxine-binding globulin (TBG) are not associated with clinical disease and they do not require treatment. Congenital TBG deficiency is inherited in an X-linked manner. To date, some complete and partial TBG variants and one polymorphism have been identified by analysis of the TBG gene. Two male neonates were referred to us because of their low $T_4$ levels that were noted on the neonatal screening test. They showed normal levels of free $T_4$ and TSH. Their serum TBG was not detectable and those values of their parents were within the normal ranges. The genomic DNA was extracted from their white blood cells and the four coding exons of the TBG gene were amplified by using polymerase chain reaction. Sequencing of the four coding regions and all the intron/exon junctions revealed a single nucleotide deletion of the first base of the codon 352 of the mature protein in both of the neonates. This mutation resulted in a frameshift and a premature stop codon (TGA) 374. Their mothers were shown to be heterozygotes. We detected a single nucleotide deletion resulting in a frameshift in two male Korean neonates who had complete TBG deficiency.

• Journal of Genetic Medicine
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• v.5 no.2
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• pp.131-135
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• 2008

Classical galactosemia is an autosomal recessive disorder of galactose metabolism, caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT). Buildup of galactose-1-phosphate is toxic at high levels and can damage the liver, brain, eyes, and other vital organs. The case presented here was that of an 11-day-old female infant who had elevated galatose levels upon initial neonatal screening test with persistent cholestatic jaundice, coagulopathy, and hepatomegaly. The patient was transferred due to aggravation of clinical symptoms including bleeding and jaundice. She had a delayed galactose free diet because of an inappropriate diagnosis. We quickly provided her with a lactose/galactose-restricted diet as per her final diagnosis. Clinical and laboratory results were improved after a few days of treatment. For confirmatory testing for classical galactosaemia, we simultaneously analyzed for GALT enzyme activity and allele-specific PCR/fragments for seven mutations and two polymorphisms in the GALT gene. We were able to find several GALT-deficient and compound heterozygous mutations of the GALT gene.

• Journal of Korean Academy of Nursing
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• v.13 no.1
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• pp.7-21
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• 1983

For the flexible and rational distribution of limited existing health resources based on measurements of individual risk, the socalled Risk Approach is being proposed by the World Health Organization as a managerial tool in maternal and child health care program. This approach, in principle, puts us under the necessity of developing a technique by which we will be able to measure the degree of risk or to discriminate the future outcomes of pregnancy on the basis of prior information obtainable at prenatal care delivery settings. Numerous recent studies have focussed on the identification of relevant risk factors as the Prior infer mation and on defining the adverse outcomes of pregnancy to be dicriminated, and also have tried on how to develope scoring system of risk factors for the quantitative assessment of the factors as the determinant of pregnancy outcomes. Once the scoring system is established the technique of classifying the patients into with normal and with adverse outcomes will be easily de veloped. The scoring system should be developed to meet the following four basic requirements. 1) Easy to construct 2) Easy to use 3) To be theoretically sound 4) To be valid In searching for a feasible methodology which will meet these requirements, the author has attempted to apply the“Likelihood Method”, one of the well known principles in statistical analysis, to develop such scoring system according to the process as follows. Step 1. Classify the patients into four groups: Group $A_1$: With adverse outcomes on fetal (neonatal) side only. Group $A_2$: With adverse outcomes on maternal side only. Group $A_3$: With adverse outcome on both maternal and fetal (neonatal) sides. Group B: With normal outcomes. Step 2. Construct the marginal tabulation on the distribution of risk factors for each group. Step 3. For the calculation of risk score, take logarithmic transformation of relative proport-ions of the distribution and round them off to integers. Step 4. Test the validity of the score chart. h total of 2, 282 maternity records registered during the period of January 1, 1982-December 31, 1982 at Ewha Womans University Hospital were used for this study and the“Questionnaire for Maternity Record for Prenatal and Intrapartum High Risk Screening”developed by the Korean Institute for Population and Health was used to rearrange the information on the records into an easy analytic form. The findings of the study are summarized as follows. 1) The risk score chart constructed on the basis of“Likelihood Method”ispresented in Table 4 in the main text. 2) From the analysis of the risk score chart it was observed that a total of 24 risk factors could be identified as having significant predicting power for the discrimination of pregnancy outcomes into four groups as defined above. They are: (1) age (2) marital status (3) age at first pregnancy (4) medical insurance (5) number of pregnancies (6) history of Cesarean sections (7). number of living child (8) history of premature infants (9) history of over weighted new born (10) history of congenital anomalies (11) history of multiple pregnancies (12) history of abnormal presentation (13) history of obstetric abnormalities (14) past illness (15) hemoglobin level (16) blood pressure (17) heart status (18) general appearance (19) edema status (20) result of abdominal examination (21) cervix status (22) pelvis status (23) chief complaints (24) Reasons for examination 3) The validity of the score chart turned out to be as follows: a) Sensitivity: Group $A_1$: 0.75 Group $A_2$: 0.78 Group $A_3$: 0.92 All combined : 0.85 b) Specificity : 0.68 4) The diagnosabilities of the“score chart”for a set of hypothetical prevalence of adverse outcomes were calculated as follows (the sensitivity“for all combined”was used). Hypothetidal Prevalence : 5％ 10％ 20％ 30％ 40％ 50％ 60％ Diagnosability : 12% 23% 40% 53% 64% 75% 80%.

• Clinical and Experimental Pediatrics
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• v.51 no.12
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• pp.1315-1319
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• 2008

Purpose : We aimed to examine the effect of rooming-in care on newborn infants emotional stability by comparing them with those cared for in a nursery. Methods : Forty-eight full-term newborn infants born at Cheil General Hospital between July 1 and October 31, 2007, were enrolled. Twenty-four newborn infants were roomed-in in their mothers rooms (rooming-in group), and 24 newborns were cared for in the hospital nursery (the nursery group) for the first 3 days of their lives. Those with perinatal problems that required medical treatment were excluded. By using Brazeltons neonatal behavior assessment scale, we measured irritability and self-quieting as well as the duration of crying after heel-stick puncture for the newborn metabolic screening test. Results : The rooming-in group had a higher irritability score than the nursery group ($6.8{\pm}1.7$ vs. $4.2{\pm}2.1$, P<0.001), thereby suggesting stable behavior against external irritation; the former also had a higher self-quieting activity score ($5.9{\pm}0.3$ vs. $4.5{\pm}1.8$, P=0.001), thereby suggesting that stability was reached quickly from the irritated state. Time taken to stop crying after the heel-stick puncture was significantly shorter in the rooming-in group than in the nursery group ($17{\pm}15.1$ seconds vs. $115.3{\pm}98.5$ seconds, P<0.001). Conclusion : These results show that newborn infants in the rooming-in group exhibit more stable behavior against external irritation and can be stabilized from an irritated state more quickly than infants cared for in the nursery, even after a few days of rooming-in care.