• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제4권1호
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• pp.71-76
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• 2001

목 적: 신생아 담즙울체를 진단하는 데 도움이 되는 많은 방법들이 있지만 아직까지 담관폐쇄증을 확실히 진단할 수 있는 방법은 없는 실정이다. 저자들은 담즙울체에 의한 황달을 보이는 영아에서 담즙폐쇄를 효과적으로 진단하고자 전향적 연구를 시행하였다. 방 법: 담즙울체에 의한 황달을 보이는 영아 27명을 대상으로 위십이지장 내시경을 시행하였다. 모든 환아에서 검사 전 4시간 이상 금식시켰으며 검사 직전에 10% 포도당용액을 20 ml 먹게 하였다. 5분 동안 관찰하여 담즙분비의 증거가 없는 경우에는 내시경을 제거한 후 다시 포도당용액을 20ml 먹인 후 내시경을 삽입하여 5분간 관찰하였다. 결 과: 모든 담도폐쇄 환아에서는 담즙분비의 증거가 없었으나 비담도폐쇄가 있었던 10명의 환아 중 8명에서 첫 번째 시도시 담즙의 배설이 관찰되었고 또 두 번째 시도시 두 명 중 한 명(Alagille syndrome)에서도 답즙의 배설이 관찰되어 모두 10명 중 9명에서 담즙의 배설을 관찰할 수 있었다. 이상의 결과로 내시경을 이용한 담도폐쇄 진단의 정확도는 96.3%였으며 진단적 민감도는 100.0%, 특이도는 90.0%였다. 결 론: 비록 연구된 증례수가 많지 않아 일반화하는 데는 다소 어려움이 있겠지만 내시경을 이용하여 담도폐쇄를 감별하는 방법은 비교적 쉽고 빠르게 수행할 수 있는 좋은 검사법으로 생각된다.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제16권2호
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• pp.89-94
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• 2013

Purpose: The aim of this study was to evaluate the prevalence of increased aminotransferase levels and to identify associated factors in children admitted to hospital with urinary tract infections (UTIs). Methods: The study included children with a diagnosis of UTI who were admitted to the Konyang University Hospital from January 2007 to May 2011. The total number of patients was 249 and the mean age was $15.88{\pm}28.21$ months. UTI was defined as a positive urine culture (> $10^5$/colony forming unit [CFU]) with pyrexia. Patients were treated by intravenous antibiotics, such as ampicillin/sulbactam, aminoglycoside, cephalosporins or vancomycin. Patients with neonatal jaundice or other liver disease were excluded. We investigated the relationship of aminotransferase levels with the type of antibiotic, degree of vesicoureteral reflux (VUR), and causative organisms. Results: Children with increased aminotransferase levels were younger than those with normal levels (p=0.001), but white blood cell count, platelet count, causative organisms, type of antibiotics and presence of VUR were not associated with aminotransferase levels. Aminotransferase levels became normal within 1 month after discharge without special measures, except in 1 case. Conclusion: We found that many children with UTI have abnormal aminotransferase levels. In most cases, this change is mild and self-limiting. We conclude that increased aminotransferase level increase during UTI do not require unnecessary tests and excessive treatment.

• 대한한방소아과학회지
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• 제31권4호
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• pp.39-48
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• 2017

Objectives The purpose of this study is to investigate effectiveness of the Ha-Taedok treatment and discuss how to improve the Ha-Taedok method Methods We analyzed the medical records of 20 children who were treated by Ha-Taedok method. 20 questionnaires were administered to the mothers of those children and statistically analyzed by using PASW Statistics 18. Results The children who were treated by Ha-Taedok method weighed at birth ranged from a minimum of 2.7 kg to a maximum of 3.86 kg, and the children's weight after treated by Ha-Taedok method were varied from a minimum of 2.8 kg to a maximum of 4.7 kg. The Ha-Taedok treatment was initiated to children from 3 to 23 days after their birth. 15 out of 20 mothers of the children treated by the Ha-Taedok method were satisfied with Ha-Taedok method (75%). All of them answered that they were willing to repeat the treatment to their children again or recommend the treatment to others. 10 out of 20 mothers told that the main factor/point for improvement of Ha-Taedok method was publicity. Conclusions If the effectiveness of Ha-Taedok method is scientifically proven and recommended, the scope of Ha-Taedok method for newborn infants will be widely used.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제17권1호
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• pp.37-40
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• 2014

Purpose: Crigler-Najjar syndrome type II (CN-2) is characterized by moderate non-hemolytic unconjugated hyperbilirubinemia as a result of severe deficiency of bilirubin uridine diphosphate-glucuronosyltransferase (UGT1A1). The study investigated the mutation spectrum of UGT1A1 gene in Korean children with CN-2. Methods: Five Korean CN-2 patients from five unrelated families and 50 healthy controls were enrolled. All five exons and flanking introns of the UGT1A1 gene were amplified by polymerase chain reaction (PCR) and the PCR products were directly sequenced. Results: All children initially presented with neonatal jaundice and had persistent indirect hyperbilirubinemia. Homozygous p.Y486D was identified in all five patients. Three patients had an associated homozygous p.G71R and two a heterozygous p.G71R. The allele frequency of p.Y486D and p.G71R in healthy controls was 0 and 0.16, respectively. No significant difference in mean serum bilirubin levels was found between homozygous carriers of p.G71R and heterozygous carriers. Conclusion: The combination of homozygous p.Y486D and homozygous or heterozygous p.G71R is identified. The p.Y486D and p.G71R can be screened for the mutation analysis of UGT1A1 in Korean CN-2 patients.

• Neonatal Medicine
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• 제15권2호
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• pp.176-182
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• 2008

드문 선천성 문맥전신성 단락에 대한 표준화된 치료는 없으나 저자들은 출생 직후부터 심부전 증상을 보인 환아에서 심실 중격 결손증을 동반한 선천성 문맥전신성단락을 4회의 코일 색전술 및 심 교정술로 치료한 증례를 경험하였기에 문헌고찰과 함께 보고하는 바이다.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제17권3호
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• pp.162-169
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• 2014

Purpose: To study temporal pattern of serum liver enzymes levels in newborns with hepatic injury associated with birth asphyxia (BA). Methods: Singleton term newborns with BA and ${\leq}72$ hours of age admitted to neonatal intensive care unit were prospectively enrolled. Term newborns with physiological jaundice and without BA were studied as controls. Serum liver enzymes were measured at <24 hours, 24-72 hours, and at 6-12 days of age for cases and at 1-6 days of age for controls. BA was defined by 1 minute Apgar score <7 or delayed or absent cry with hypoxic ischemic encephalopathy. BA-associated liver injury was defined as serum alanine aminotransferase (ALT) elevation beyond +2 standard deviation (ALT > +2 SD) above the mean of control subjects at any of the three time points. Results: Sixty controls and 62 cases were enrolled. Thirty-five cases (56%) developed BA-associated liver injury (ALT>81 IU/L). They had higher serum levels of ALT, aspartate aminotransferase, lactate dehydrogenase than the control infants, with peak at 24-72 hours. In controls, serum liver enzyme levels were significantly higher in appropriate-for-date (AFD) babies than small-for-date (SFD) babies. Serum enzyme pattern and extent of elevation were comparable between SFD and AFD babies. Degree of serum liver enzyme elevation had no relationship with severity of hypoxic encephalopathy. Conclusion: Serum liver enzyme elevation is common in BA; it peaks at 24-72 hours followed by a sharp decline by 6-12 days of age. Pattern and extent of enzyme elevation are comparable between SFD and AFD babies.

• 대한유전성대사질환학회지
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• 제6권1호
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• pp.96-107
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• 2006

Citrin deficiency resulting from mutations of SLC25A13is associated with two major clinical phenotypes; neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and adult-onset type 2 citrullinemia (CTLN2). In Korea, 7 cases of citrin deficiency have been diagnosed based on biochemical and molecular findings. Four NICCD cases were identified by newborn screening using MS/MS or presenting symptoms like cholestatic jaundice. They are all males, presenting with conjugated hyperbilirubinemia, elevated liver enzymes, hypoalbuminemia, mild hyperammonemia, elevated citrullin, methionine and threonine. All of them have been spontaneously recovered from hepatic manifestation by the age of 6-8 months. Mutation analysis has been performed using their genomic & cDNAs obtained from skin fibroblasts. They turned out to be compound heterozygotes carrying each of 851del4, IVS11+1G>A, and IVS13+1G>A. Three CTLN2 patients were identified. Two adult male patients presented with a sudden loss of consciousness, seizure, vomiting, hyperammonemia and citrullinemia in their twenties. They carried an IVS13+1G>A, 851del4, and IVS11+1G>A mutant alleles. The other CTLN2 patient was 52 year old female patient, manifesting lethargy, altered consciousness, irritability and hyperammonemia. Similar clinical symptoms had recurred at the delivery of first and second babies in her past medical history. She was managed by hemodialysis and survived with neurological sequellae. Also, we screened the presence of 9 common mutations in 500 Korean newborns using dried blood spot of filter papers. Only a allele carried 854del4 mutation. In conclusion, the entire picture of citrin deficiency in Korea including incidence, genotype, clinical features and natural courses, is still vague at the present time.

• Journal of Genetic Medicine
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• 제12권1호
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• pp.49-56
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• 2015

We herein report an analysis of a female baby with a de novo dup(10p)/del(10q) chromosomal aberration. A prenatal cytogenetic analysis was performed owing to abnormal ultrasound findings including a choroid plexus cyst, prominent cisterna magna, and a slightly medially displaced stomach. The fetal karyotype showed additional material attached to the terminal region of chromosome 10q. Parental karyotypes were both normal. At birth, the baby showed hypotonia, upslanting palpebral fissures, a nodular back mass, respiratory distress, neonatal jaundice and a suspicious polycystic kidney. We ascertained that the karyotype of the baby was 46,XX,der(10)($pter{\rightarrow}q26.3::p11.2{\rightarrow}pter$) by cytogenetic and molecular cytogenetic analyses including high resolution GTG-and RBG-banding, fluorescence in situ hybridization, comparative genomic hybridization, and short tandem repeat marker analyses. While almost all reported cases of 10p duplication originated from one of the parents with a pericentric inversion, our case is extraordinarily rare as the de novo dup(10p)/del(10q) presumably originated from a rearrangement at the premeiotic stage of the parental germ cell or from parental germline mosaicism.

• 여성건강간호학회지
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• 제29권1호
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• pp.20-31
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• 2023

Purpose: As more newborns have received expanded newborn screening (NBS) for metabolic disorders, the overall number of false-positive results has increased. The purpose of this study was to explore the psychological impacts experienced by mothers related to the NBS process. Methods: An online parenting community in Korea was selected, and questions regarding NBS were collected using web crawling for the period from October 2018 to August 2021. In total, 634 posts were analyzed. The collected unstructured text data were preprocessed, and keyword analysis, topic modeling, and visualization were performed. Results: Of 1,057 words extracted from posts, the top keyword based on 'term frequency-inverse document frequency' values was "hypothyroidism," followed by "discharge," "close examination," "thyroid-stimulating hormone levels," and "jaundice." The top keyword based on the simple frequency of appearance was "XXX hospital," followed by "close examination," "discharge," "breastfeeding," "hypothyroidism," and "professor." As a result of LDA topic modeling, posts related to inborn errors of metabolism (IEMs) were classified into four main themes: "confirmatory tests of IEMs," "mother and newborn with thyroid function problems," "retests of IEMs," and "feeding related to IEMs." Mothers experienced substantial frustration, stress, and anxiety when they received positive NBS results. Conclusion: The online parenting community played an important role in acquiring and sharing information, as well as psychological support related to NBS in newborn mothers. Nurses can use this study's findings to develop timely and evidence-based information for parents whose children receive positive NBS results to reduce the negative psychological impact.

• Neonatal Medicine
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• 제17권1호
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• pp.102-108
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• 2010

목 적 : 신생아 황달은 신생아기에 가장 흔한 질환 중 하나로 핵황달과 같은 심각한 후유증을 유발할 수 있기 때문에 조기발견과 치료가 중요하다. 본 연구에서는 경피적 황달 측정을 이용하여 황달 수치(TcB)를 측정하고 황달 수치의 변화를 노모그램으로 산출해 건강한 신생아황달의 자연경과를 살펴보고 추적 관찰과 치료가 필요한경우를 예측하고자 하였다. 방 법: 2007년 10월 1일부터 2009년 4월 30일까지 성애병원에서 출생한 재태연령 35주 이상의 건강한 만삭아와 준만삭아 중 부모가 모두 한국인인 986명을 대상으로 하였다. 출생 6시간 후부터 6시간 간격으로 퇴원시까지 경피적 황달 측정기(Minolta, JM-103)을 이용하여 이마에서 측정하였으며 이를 통해 얻어진 데이터로 노모그램을 산출하였다. 분만방법, 재태연령, 수유방법에 따른 차이를 비교하였다. 결 과 : 통계 데이터를 통해 시간에 따른 백분위수 그래프가 그려졌으며, 재태기간 35주에서 37주 6일의 신생아에서는 90 백분위수 이상, 38주 이상은 95 백분위수 이상에서 광선치료가 필요할 것으로 나타났다. 생후 24시간, 48시간, 72시간, 96시간에 TcB 수치의 평균을 분만방법, 재태연령, 수유방법에 따라 비교하였을 때 생후 48시간에서 제왕절개로 출생한 신생아가 자연분만으로 출생한 신생아에 비해 TcB 수치가 의미 있게 높았으며, 나머지 시간에서는 통계학적 의미가 없었다. 이외 수유방법에 따른 두 군의 비교에서는 모든 시간에서 통계학적 유의성이 없었다. 결 론 : 편리하고 비침습적인 경피적 황달 측정기를 이용하여 시간에 따른 TcB 수치의 변화를 노모그램을 산출하였으며 이를 이용하여 심각한 황달을 예측하는데 도움이 될 것으로 사료된다.