• Journal of Genetic Medicine
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• v.10 no.2
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• pp.109-112
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• 2013

Treacher Collins syndrome (TCS) is the most common and well known mandibulofacial dysostosis with characteristic clinical features including downward slanting of palpebral fissures, coloboma of the lower eyelid, hypoplastic zygomatic arches, micrognathia, macrostomia, microtia, and other deformities of the ears. TCS is caused by mutations in at least 3 genes involved in pre-rRNA transcription: TCOF1, POLR1D and POLR1C. We experienced a 1-day-old female infant with characteristic clinical features of TCS. A novel, heterozygotic mutation within the TCOF1 gene (c.3874_3875insG, p.Ala1292Glyfs*30) was identified to cause a premature stop codon.

• Journal of Chest Surgery
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• v.18 no.4
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• pp.785-791
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• 1985

The congenital cystic adenomatoid malformation [C.C.A.M.] of the lung is a rare lesion consisted of multiple cysts in the pulmonary parenchyma lined cuboidal or columnar epithelium. The C.C.A.M. presents clinically in three ways:[1] stillborn or perinatal death, [2] progressive respiratory distress in the newborn, and [3] acute and chronic pulmonary nfections in the older infant and child. We recently experienced two cases of C.C.A.M. of the lung, and have good surgical results. The first case was 29 days old male and the second case was 16 month old female who have been suffered from severe respiratory difficulty and pulmonary infection repeatedly each other. The lobectomies were performed, and the postoperative course was uneventful.

• Neonatal Medicine
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• v.18 no.2
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• pp.370-373
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• 2011

Citrin deficiency caused by the SLC25A13 gene mutations is associated with both neonatal-onset type II citrullinemia (CTLN2), also known as neonatal intrahepatic cholestasis caused by citrin deficiency and adult-onset CTLN2. Neonatal-onset CTLN2 is an autosomal recessive disorder characterized by poor growth, intrahepatic cholestasis, and increased serum citrulline. A 16-days old infant with hyperammonemia was referred for evaluation of increased plasma citrulline diagnosed using tandem mass spectrometry. Blood amino acid analysis showed significant elevation of citrulline. Mild elevation in serum galactose levels had been found. DNA analysis of the SLC25A13 gene in this patient showed two novel compound heterozygous mutations, c.221C>T in exon4 and c.1645C in exon16 (p.[Ser74Phe]+[Gln549X]). We suggest that infants with a high serum citrulline level on a tandem mass screening test are candidates for gene analysis and blood amino acid analysis for neonatal-onset CTLN2.

• The Journal of Pediatrics of Korean Medicine
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• v.17 no.2
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• pp.37-53
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• 2003

Objective : To find risk factor and symptoms for transferred newborn from postpartum care center Method : We performed a follow-up study using medical record. Subjects comprised 188 neonates(include 4 twins) and 184 women in childbed who were hospitalized in oriental postpartum care center from January, 1, 2002 to December, 31, 2002. Result: Transferred newborn was total 24, N.V.D. 17, C.S. 7, male and female were 12 separately. The symptom of transfer was fever(16), diarrhea(4), jaundice(3), convulsion(1) Transferred number and rate was male 12(10.7%), female 12(15.8%). In delivery method, total normal vaginal delivery(N.V.D.) was 136 and transferred 17(12.5%), total cesarean section(C.S.) was 52 and transferred 7(13.5%). Transferred rank was N.V.D. female(17.9%). C.S. male(15.6%), C.S. female(10%), N.V.D.(8.6%). Of the 188 neonates. immature infants were 2 and transferred 1(50%), term infants were 184, transferred 23(12.5%), post-term infants were 2 and transferred none(0%). In age of women in childbed, transferred ratio was 15.4%(over 35), 15.2%(25-29), 10.5%(30-34). In fever,. C.S. infants were more transferred than N.V.D. and male infant had a tendency to transfer in later period of hospitalization and female in early period. It seems that transfer was related to abortion. In diarrhea, all was N.V.D. and their diagnosis was rotavirus. The average age of women in childbed was yonger(28.5). In jaundice, all was 1st, and average birth weight was lighter(3153g). The average age of women in childbed was older(30). In convulsion, birth weight was lighter(3153g), and age of women in childbed was older(30). Conclusion : There's any relation with sex and delivery method, birth weight and mother's age in transfer. But we cannot find any statistically significance. Further prospective studies are needed to find risk factors in transfer.

• Child Health Nursing Research
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• v.24 no.1
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• pp.1-8
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• 2018

Purpose: This study compared the pain and skin reactions of neonates according to the method of removing the adhesive eyepatch used for phototherapy. Methods: The subjects included 20 neonates admitted at C University Hospital. In group 1 (n=10), DuoDERM dressing was attached under the adhesive eyepatch, which was removed with water, while in group 2 (n=10), the eyepatch was attached on the skin and removed with oil. Heart rate, oxygen saturation, the Neonatal Infant Pain Scale (NIPS), crying time were measured. Data were analyzed using repeated-measures analysis of variance. Results: No interaction was found between group and timing for heart rate and oxygen saturation. In group 1, the NIPS score was higher and the crying time was longer than in group 2. No difference was observed in the erythema score between the groups. Conclusion: Removing the adhesive eyepatch using oil can be used as a nursing intervention to reduce pain and improve comfort in neonates.

• Journal of Preventive Medicine and Public Health
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• v.15 no.1
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• pp.145-151
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• 1982

Breslau's report on the two stillbirths induced by illuminating gas poisoning made many investigators explore the hazards. of carbon monoxide(CO) poisoning to pregnancy. The pregnant woman, her fetus, and the newborn infant have been identified to be particularly vulnerable to CO even in low concentration. Several factors, such as placental barrier, membrane resistance of maternal and fetal red blood cells etc., were considered to be related to the delayed elimination of CO from fetus. Slower elimination of CO from fetus than from mother was confirmed in several in vivo studies. But there are few studies which have confirmed the difference of carboxyhemoglobin (HbCO) dissociation in adult and fetal bloods. Author investigated the effects of hemoglobin itself on the elimination of CO from mother and fetus. By observing the difference of CO dissociation from adult and fetal hemoglobin at the various partial pressures of oxygen, the author tries to suggest the base of the proper treatment measure for the CO poisoning of pregnant woman and newborn infant. The results were as follows: 1. The total hemoglobin amounts of adults and fetal bloods were $16.1{\pm}0.50gm%\;and\;15.7{\pm}0.32gm%$, respectively. The fetal hemoglobin proportions in adult and fetal bloods were $1.2{\pm}0.15%\;and\;72.7{\pm}3.01%$, respectively. 2. Adult and fetal bloods saturated by CO to 100% HbCO were exposed to ambient air$(21%\;O_2),\;100%\;O_2\;and\;3\;ATAO_2$. After 30 minutes exposure, the HbCO saturations of adult blood were 96.7%, 70.9%, and 52.8%, respectively, and those of fetal blood were 98.5%, 76.1%, and 62.2%, respectively. HbCO dissociation was proportional to the partial pressure of oxygen and the most marked dissociation was shown under 3 ATA $O_2$, HbCO dissociation of fetal blood was slower than that of adult blood in all conditions. According to the above results, it is possible that CO poisoning make more serious damage to the fetus and newborn infant than to the adult due to the delayed dissociation of HbCO. Thus in the treatment of CO poisoning of pregnant woman and newborn infant, hyperbaric oxygen therapy seems to be the most eflective treatment measure, but the duration of hyperbaric oxygenation should be lengthened accordingly.

• Clinical and Experimental Pediatrics
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• v.59 no.sup1
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• pp.45-48
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• 2016

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive mitochondrial disorder of fatty acid ${\beta}$-oxidation, and is associated with mutations in the acyl-CoA dehydrogenase (ACADS) gene. Recent advances in spectrometric screening for inborn errors of metabolism have helped detect several metabolic disorders, including SCADD, without symptoms in the neonate period. This allows immediate initiation of treatment and monitoring, so they remain largely symptomless metabolic disease. Here, we report a 15-month-old asymptomatic male, who was diagnosed with SCADD by newborn screening. Spectrometric screening for inborn errors of metabolism 72 hours after birth revealed an elevated butyrylcarnitine (C4) concentration of $2.25{\mu}mol/L$ (normal, < $0.99{\mu}mol/L$). Urinary excretion of ethylmalonic acid was also elevated, as detected by urine organic acid analysis. To confirm the diagnosis of SCADD, direct sequencing analysis of 10 coding exons and the exon-intron boundaries of the ACADS gene were performed. Subsequent sequence analysis revealed compound heterozygous missense mutations c.164C>T (p.Pro55Leu) and c.1031A>G (p.Glu344Gly) on exons 2 and 9, respectively. The patient is now growing up, unretarded by symptoms such as seizure and developmental delay.

• Journal of Korean Academy of Nursing
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• v.5 no.1
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• pp.133-143
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• 1975

Most of mothers place their babies in either supine or prone position without change of position. Studies comparing supine and prone position of the newborn infants -have already been performed with the result that the prone position is relatively better than the supine position. However, one kind of position recommended to the mothers is not sufficient for the good rearing practice of children, because the same position placed for period long of time may bring out physical, mental tension and fatigue, and deformities of the skull and the thorax. For this reason nurses have to find out other position which has identical or more advantages than prone position so as to perform the position change for the babies. Main purpose of this study is to identify the differences of vital signs, the number of urination, defecation, diaper rash, crying and amount of feeding of the newborn infants with prone position or lateral position during the first three days of life. Sixty two newborn infants who were delivered at Seoul National University Hospital during the period from July 1 to September 5, 1974 were chosen as subjects for this study. The criteria for the choice of subjects were the babies born with vaginal delivery; body weight 2.5kg or over at birth; Apgar score Seven or over; and gestation period between thirty-eight months ana forty- two months. Of these subjects, by random sampling, thirty-one newborn infants were placed in the prone position and the other thirty-one in the lateral position. The results of this study reviewed in a statistical analysis of the t-test to obtain the following findings : 1. The heart rates of babies in the prone position were the mean heart rates of 135.03 and those in the lateral position 135.98 without any statistically significant difference. 2. There was no significant difference of respiration rate between two groups : a group in the prone position showed the mean respiration rates of 45,57 and the other in the lateral position 46.49. 3. There was no significant difference of body temperature between two groups: the mean body temperature of a group placed in the prone position was 98$^{\circ}$18'F(36$^{\circ}$77'C) and that of the other group 98$^{\circ}$20'F(36$^{\circ}$78'C). 4. One baby showed diaper rash only in a group of infants in the prone position. 5. The number of crying of the babies in the prone position were 23.70 and those in the lateral position 30.00 with a statistical difference at 5 percent level. 6, There was no difference of frequency of urination between two groups: the mean frequency of a group placed in tile prone position was 5.44 and that of the other group 5.06, 7. There was no significant difference of frequency of defecation between two groups : the mean frequency of a group placed in the prone position was 4.20 and that of tile other group 4.21, 8. There was no significant difference of feeding amount between two groups : the average amount of a group in the prone position showed 325.03 and that of the other group in the lateral position 291.51. All the above results mean that we may substitute tile lateral position for the Prone position or utilize both position for tile rearing practice of the babies.

• Neonatal Medicine
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• v.28 no.1
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• pp.59-63
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• 2021

An important, albeit rare, cause of fetal bradycardia is long QT syndrome (LQTS). Congenital LQTS is an ion channelopathy caused by mutations in genes encoding cardiac ion channel proteins. Fetal onset of LQTS imposes high risk of life-threatening tachyarrhythmias and sudden cardiac death. Here, we report the case of a female newborn with fetal onset of bradycardia and a 2:1 atrioventricular (AV) block. After birth, a 12-lead electrocardiogram (ECG) revealed bradycardia with QT prolongation of a corrected QT (QTc) interval of 680 ms and pseudo 2:1 AV block. Genetic testing identified a heterozygous Gly402Ser (c.1204G>A) mutation in CACNA1C, confirming the diagnosis of LQTS type 8 (LQT8). The patient received propranolol at a daily dose of 2 mg/kg. Mexiletine was subsequently administered owing to the sustained prolongation of the QT interval and pseudo 2:1 AV block. One week after mexiletine inception, the ECG still showed QT interval prolongation (QTc, 632 ms), but no AV block was observed. There were no life-threatening tachyarrhythmias in a follow-up period of 13 months.

• Clinical and Experimental Pediatrics
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• v.55 no.11
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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.