• Neonatal Medicine
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• 제18권1호
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• pp.143-147
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• 2011

ASAuria는 요소회로이상증 중의 하나로 드물게 나타나는 상염색체 열성으로 유전되는 대사 질환이다. 체내에 ASA가 축적됨으로서 신생아 시기에 구토, 기면, 수유 곤란, 의식 장애를 보이며 적절한 조치를 하지 않으면 사망에 이르게 되는 치명적인 대사 질환이다. 이 질환은 혈중과 소변에 ASA가 증가하는 것으로 진단할 수 있다. 국내에서는 고전적 형태의 ASAuria가 아직 보고된 사례는 없으며, 이에 본 저자들은 고전적 ASAuria로 진단된 환아에서 유전자 검사를 통해 보인자 부모로부터 출생하였음을 진단한 신생아 환자 1예를 경험하였기에 보고하는 바이다.

• Clinical and Experimental Reproductive Medicine
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• 제3권1호
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• pp.13-19
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• 1976

Serum levels of human placental lactogen have been measured by hemagglutination-inhibition reaction in 67 normal pregnant state and in 15 postpartum 24 hour state, HAIR is less sensitive and reliable method than radioimmunoassay, but simple, rapid, less expensive and fairly accurate, so it is more helpful in screening of large antenatal population with or without high risk complications. 1) Sensitivity of HPL-HAIR test kit was $0.1{\mu}g$/ml of H.P.L. serum level and had no cross reaction to HCG or male serum or non-pregenant female or newborn infant, 2) H.P.L. value was around $2{\mu}g$/ml until 24th week of pregnancy and rose to $6{\sim}8$ ${\mu}g$/ml continuously until about 36th week of pregnancy and then slightly decreased or stationary. 3) H.P.L. value in postpartum 24 hour state was undetectable. 4) There was poor correlation between maternal serum H.P.L. value at term and baby weight.

• 대한두개안면성형외과학회지
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• 제12권2호
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• pp.121-124
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• 2011

Purpose: The congenital epulis is a rare, benign tumor. It can protrude out of the newborn's mouth to prevent normal closure of the mouth and it can interfere with respiration or feeding. Methods: An 11-day old female neonate presented with a $1.5\;{\times}\;1.5\;{\times}\;2.3cm$ sized mass in the gingival and anterior alveolar ridge of the mandible. We performed a simple excision. Results: In our case, histologically, there was no pseudoepitheliomatous hyperplasia. The staining for S-100 protein, and actin was negative. After 8 months, the patient had normal teeth eruption and no recurrence of the tumor. Conclusion: With early detection and appropriate treatment, we were able to help the baby avoid developing any dyspnea. Nursing was possible after the mass had been removed.

• Neonatal Medicine
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• 제28권1호
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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.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제24권3호
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• pp.256-264
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• 2021

Purpose: Data on the relationship between gastroesophageal reflux (GER) and brief resolved unexplained events (BRUE) in infants is scarce. The aim of this study was to identify the characteristics of combined multichannel intraluminal impedance-pH (MII-pH) monitoring in infants who have experienced BRUE. Methods: We conducted a prospective study of infants who were hospitalized on account of BRUE and required 24-hour MII-pH monitoring. Results: Twenty-one infants (mean age, 4.7 months; range, 0.9-8.9 months; male/female, 11/10) participated in this study. BRUE symptoms associated with GER were found in 10 infants (47.6%). Based on the RI on pH-metry alone, only 7 (33.3%) infants were diagnosed with GERD. More than 100 GER episodes detected by MII were found in 10 (47.6%) infants. Nineteen percent of infants were diagnosed with GERD based on both pH and MII. Conclusion: Both acid and non-acid reflux seem to play a significant role in the pathogenesis of GER-related BRUE in infants.

• Journal of Genetic Medicine
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• 제16권2호
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• pp.85-89
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• 2019

Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive urea cycle disorder. HHH is caused by a deficiency of the mitochondrial ornithine transporter protein, which is encoded by the solute carrier family 25, member 15 (SLC25A15) gene. Recently, government supported Korean newborn screening has been expanded to include a tandem mass spectrometry (MS/MS) measurement of ornithine level. We report a case of a neonate with HHH syndrome showing a normal MS/MS measurement of ornithine level. A female newborn was admitted to neonatal intensive unit due to familial history of HHH syndrome. Her parents were consanguineous Parkistani couple. The subject's older sister was diagnosed with HHH syndrome at age of 30 months based on altered mental status and liver dysfunction. Even though the subject displayed normal ammonia and ornithine levels based on MS/MS analysis, a molecular test confirmed the diagnosis of HHH syndrome. At 1 month of age, amino acid analysis of blood and urine showed high levels of ornithine and homocitrulline. After 11 months of follow up, she showed normal growth and development, whereas affected sister showed progressive cognitive impairment despite no further hyperammonemia after protein restriction and standard therapy. Our report is in agreement with a previous Canadian study, which showed that neonatal samples from HHH syndrome patients demonstrate normal ornithine levels despite having known mutations. Considering the delayed rise of ornithine in affected patients, genetic testing, and repetitive metabolic testing is needed to prevent patient loss in high risk patients.

• 한국응용곤충학회지
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• 제54권4호
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• pp.393-400
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• 2015

국내 미기록종 Pyemotes moseri Yu et Liang (Acarina: Pyemotidae)는 곤충기생성 응애로 매실 씨앗 속 유충에서 처음 발견되었다. 발견당시 응애가 기생하고 있었던 기주의 미토콘드리아 유전자를 증폭하여 염기서열을 분석한 결과 복숭아씨살이좀벌의 유충으로 밝혀졌다. 본 연구는 실험실 조건하에서 P. moseri의 번식과 기생 능력을 조사하였다. 복숭아씨살이좀벌의 유충을 기주로 이용하여 P. moseri의 교미한 암컷 성충을 사육하면서 주기적으로 관찰하여 새로 태어나는 자손의 수와 성별을 조사한 후 제거하였다. 기생 능력 조사는 원예용 상토가 깔린 스테인레스 바트에 대량 사육한 응애가 들어 있는 튜브와 복숭아씨살이좀벌 유충이 가해한 매실 씨앗을 함께 담은 후 지퍼백에 넣어 인큐베이터에 보관하였다. 복숭아씨살이좀벌 유충 또는 번데기에 응애의 기생 여부를 확인하고자 한달 후 매실 씨앗을 조사하였으며 본 실험은 5반복씩 3회 실시하였다. 교미한 암컷이 기생하기 시작한 이후부터 생식이 끝날 때까지의 기간은 평균 24.4일(n=8)이었으며 교미한 암컷 한 마리당 평균 104.0마리(n=8)의 암컷을 낳았디. 복숭아씨살이좀벌의 유충 또는 번데기가 들어 있는 매실 씨앗은 바트당 평균 7개 이상이었고 이중 단 2개의 씨앗에서만 기생에 성공한 응애를 관찰하였다.

• 대한간호학회지
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• 제5권1호
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• pp.1-16
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• 1975

The newborn human is the only mammalian whose mother does not have a food supply ready for it's offspring at birth. From two to four days usually elapse before the mother's supply If milk appears, and during this period, some kind of artificial feeding should be supplied to the infants. Because of this factor, there has been continued debate fog the past hundreds of years as to when the first feeding should be started Accordingly, many experiments were carried out by scholars and because of these, Pre-lateral feedings were believed to be necessary. Many types of pre-lateral feedings were tried and the conclusion was reached that glucose water was the best food for the first infants'feedings. Traditionally, This has been started 12 hours after birth. The causes for the 12 hours delay were thought to (1) provide rest for the infants: (2) prevent regurgitation ana vomiting which tended to be prevalent during this tine: (3) in cases of low weight infants, prevention of aspiration pneumonia. From recent studies of newborn physiology and as pediatric medicine has been rapidly advancing, many studies hare been carried out concerning the improvement of infant nutrition and the early feeding of infants has been emphasized. This author believes it would be very beneficial to try two different kinds of feedings for the infant. (1) experimental feedings ana (2) comparative feeding, and during this period to investigate and compare the infants blood sugar level, hematocrit, gamma globulin level weight changes and to observe the infant reaction ill order to search for a more desirable feeding program. This study was conducted from January to March 1974 with data related to 40 healthy newborn infants (male 21, female 19: weight, 2.79∼4.20㎏ : gestation, 39∼40 weeks) born at Ewha Womens University Hospital and the results obtained were as follows : 1. At time of birth the blood sugar level from the cord sample averaged 88.99㎎/100㎖, but the blood sugar level rapidly dropped after 2 to 3 hours and reached the lowest point after 10 to 11 hours (54.48㎎/100㎖) and rose again by the 24 hour time period (76.80㎎/100㎖). Changes in the blood sugar level of the experiments: groups and the compare-five group was not significantly different until the 6 to 7 hour period, but by the 10 to 11 hour period the blood sugar levels of the experimental group (49,10㎎/100㎖) and the comparative group (49.70㎎/100㎖) were lower than the remainder of the experimental groups. 9. There ware no significant weight changes between the two groups. Average weight at birth was 3.35㎏, but at the 24 hours period birth weight averaged 3.29㎏. (1.8% reduction of birth weight). It continually lowered until at 48 hours, average weight was 3.26㎏ (2.7% reduction from birth weight.) 3. Hematocrit readings showed no significant difference between the groups. Hematocrit, the average value at birth, was 28.07% and abruptly elevated to average 64.35% at the 2 to 3 hour period, then slowly lowered to an average of 59.67% at the 6 to 7 hour period, 55.10% at the 10 to 11 hour period, ana 53.70% at the 24 hour period. 4. At birth, average gamma globulin value averaged 1,39㎎/100㎖. and at the 24 hour period averaged 1,52㎎/100㎖ revealing no significant difference between the two feeding groups. 5. Such factors as voiding, passing of meconium, regurgitation and vomiting showed no significance between the two feeding groups. However, the number of infants voiding and passing meconium in the experimental groups during the first 12 hours was slightly greater. In general there was an increased tendency for regurgitation and. vomiting among a small group of the infants during the first 24 hours which thereafter decreased. 6. Fluid intake averaged 24.38cc at the first feeding and increased to average 30.48cc at the third feeding and further increased to 73. 00cc at the fifteenth feeding. Finally it was suggested that the most reasonable method of early feeding is to give less than 25cc of 5% glucose water and/or 8% powdered milk at 8 to 9 flours after birth in order to prevent hypoglycemia and dehydration.

• Asian-Australasian Journal of Animal Sciences
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• 제14권3호
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• pp.307-315
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• 2001

Litter size has been one of the important economic traits in porcine reproduction. The insulin-like growth factor (IGF) system has been shown to mediate actions of the steroid hormone or to synergize with other endocrine factors so that it consequently plays roles in reproductive processes, including ovulation, implantation, maintenance of pregnancy, and fetal development. However, the effect of the serum IGF system on porcine litter size has not been deeply studied. Therefore, this study was conducted to relate serum IFG-II concentration and IGF binding protein-3 (IGFBP-3) expression with porcine litter size. Moreover, the possible association of those with estrogen receptor (ER) as a candidate gene for litter size was investigated. Swine were separated into two groups showing high and low litter sizes, and sera were collected from sows in the estrous cycle to postnatal growth of their female progeny. Serum IFG-II concentration was measured by radioimmunoassay and IGFBP-3 expression was detected by Western ligand blotting. During the estrous cycle, IGFBP-3 expression in both groups decreased moderately from metestrus to estrus, but IFG-II concentration showed a reverse pattern. Also, IFG-II concentration and IGFBP-3 expression decreased gradually as pregnancy proceeded. Unlike IGFBP-3, IFG-II decreased moderately as newborn pigs grew. Significant differences in serum IFG-II amount between the two groups were detected at 60 (p<0.01), 75, 90, and 105 d (p<0.05) of pregnancy and at 60 (p<0.01), 45, and 105 d (p<0.05) of postnatal growth. Furthermore, based on ER genotypes, a high litter size group with genotypes AB and BB showed lower IFG-II concentration than a low litter size group with a genotype AA during pregnancy. Taken together, the results indicate that the serum IFG-II and IGFBP-3 are correlated with the litter size in pigs.

• 대한소아치과학회지
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• 제34권3호
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• pp.526-531
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• 2007

톡소플라즈마증은 원충인 toxoplasma gondii의 감염에 의해 일어난다. Toxoplasma gondii는 동물에 기생하고 있는 것으로 알려져 있다. 사람에 대한 감염원으로는 개나 고양이 등 애완동물과 돼지, 소, 말 등의 가축 등이 제시되고 있다. 병든 동물의 분비물이나 배출물로부터 경구 감염이 된다고 생각되며, 돼지, 소, 양 등의 식육으로부터 감염되는 것으로도 알려져 있다. 톡소플라즈마증은 선천형과 후천형으로 나뉘며, 그 임상 증상도 다르게 나타난다. 선천형인 경우 뇌수종, 맥락 망막염, 경련, 지능장애, 소두증이 나타나며 후천형은 산재성 형태와 임파종 형태로 다시 나뉘며, 임파종 형태가 남자에서 좀 더 흔하게 나타난다. 본 증례는 선천성 톡소플라즈마증을 보이는 8세 2개월의 여아의 임상적 양상, 의과적 병력, 방사선학적 평가, 치과적 문제점에 대한 보고이다.