• Childhood Kidney Diseases
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• 제6권2호
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• pp.178-187
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• 2002

목적: 산전 초음파가 널리 이용되면서 태아기의 선천성 요로계의 이상이 발견되는 경우가 점차 증가하고 있다. 수신증의 대부분은 출생 후 1년 내에 자연스럽게 없어지는 생리적 수신증이지만 수술적 교정을 요하는 병적 수신증과의 감별이 쉽지 않다. 본 연구에서는 산전 수신증이 의심되는 환아에서 출생 후 수신증을 확진하여 산전 진단과의 연관성을 비교 분석하고, 산전 수신증의 원인과 자연경과를 이해하여 출생 후 수신증에 대한 대처에 도움을 주고자 본 연구를 시행하였다. 방법: 1994년 9월부터 2001년 8월까지 아주대학교 병원 산과에 등록되어 산전 초음파 검사상 태아 수신증이 의심되었던 환아 119명 중 출생후 실시한 신 초음파 검사에서 수신증이 확진된 91명(121 신단위)을 대상으로 수신증의 원인과 자연경과를 신 초음파 검사와 배설성 신주사 검사로 추적 관찰하였다. 결과: 산전 초음파 검사에서 수신증이 의심되었던 119명의 신생아 중 출생 후 수신증이 확진 되었던 환아는 91명으로 76%였다. 수신증의 원인으로 요관 신우 이행부 협착이 57례(47%)로 가장 많았으며 그 다음으로는 다낭성 이형성신이 12례(10%), 요관 방광 이행부 협착 5례(4%), 방광 요관 역류 5례(4%), 후부요도 판막 2례(2%)등의 눈이었으며 원인을 찾을 수 없었던 경우도 38례(31%)였다. 추적검사에서 47%가 수신증의 완전소식 혹은 호전소견을 보였으며 총 121개의 신 단위 중 10단위가 수술을 받았으며 진단에서 수술까지는 평균 7.2개원이 걸렸다. 결론: 산전 초음파로 발견된 수신증의 대부분은 출생후 수신증으로 확진되었으나 정상인 경우도 있었다. 산전 수신증의 원인으로 요관 신우 이행부 폐쇄가 가장 많았으며 대부분은 비폐색성 수신증이었고, 추적 검사에서 호전되는 경우가 많았다. 그러나 아직까지 신생아 수신증은 정확한 감별진단이 어렵기 때문에 신장기능의 보전을 위해서는 수신증의 정도에 따라 적절한 간격으로 지속적인 관찰을 하는 것이 필요할 것으로 사료된다.

• Childhood Kidney Diseases
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• 제20권1호
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• pp.29-32
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• 2016

Purpose: Congenital anomalies of the kidneys and urinary tract (CAKUT) are the most common anomalies identified in newborns. This study aims to demonstrate the prevalence of CAKUT including hydronephrosis diagnosed by antenatal and postnatal ultrasound over a five-year period. Methods: The records of births between May $1^{st}$, 2009 and April $30^{th}$, 2014 at our hospital were collected. The number of infants who underwent renal ultrasound after birth for the detection of CAKUT was counted. The incidence of each type of CAKUT such as hydronephrosis, size abnormality, horseshoe kidney, and Multicystic dysplastic kidney (MCDK) was retrospectively evaluated for antenatal screening and postnatal follow-up examination. Results: During the study period, 33,276 infants were born and 521 neonates underwent postnatal renal ultrasound. 183 cases of CAKUT were detected prenatally and 140 postnatally using ultrasonographic examinations at the following time: (i) 3-7 days postnatally in 123 newborns (87.9%), (ii) during 1-3 months in 11 newborns (7.9%), and (iii) later than 3 months in 6 newborns (4.3%). Among diagnosed CAKUT, hydronephrosis was the most common anomaly with 113 newborns diagnosed prenatally and 46 postnatally. Duplex kidney was the second most common anomaly followed by horseshoe kidney, simple cysts in the kidney and so on. Conclusion: The detection of CAKUT is an important part of the prenatal ultrasound. This study analyzed the prevalence of CAKUT detected on prenatal screening and compared the results to those detected postnatally. Prenatal ultrasound screening fulfills the needs of postnatal examinations and therefore, both antenatal and postnatal sonographic investigations are of vital importance for diagnosis of renal and urinary tract anomalies.

• Clinical and Experimental Reproductive Medicine
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• 제8권1호
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• pp.23-34
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• 1981

In order to study twin pregnancies, a retrospective survey was carried out in Yonsei University, Severance Hospital. Twin deliveries during 1967-1976 numbered altogether 264, and their relative frequency was 1.30%. Clinical palpation in addition to auscultation and roentgenologic technique had been used in the twin diagnosis. The diagnosis was made prior to delivery in 93.18% of the cases. The deliveries took place in the 37.26th (S.D. 3.95) gestational weeks on an average. The mean weights of the infants were-A (first baby) 2416.03g. (S.D. 802.61), and B (second baby) 2299.81g. (S.D. 190.31). The most common manner of twin delivery was spontaneous vaginal delivery. Cesarean section was done in 14.39%, of which the most common indication was hypotonic uterine dysfunction (34.21 %). Low one minute Apgar scores occured more often in B twins than among A twins. Breech delivery gave low one minute Apgar scores more often than did spontaneous vertex delivery in both twins. Full term twins and infants weighing more than 2500g. had fewer low one minute Apgar scores than the preterm infants and those with low birth weight. Perinatal mortality (PNM) in the total series was 14.77% (A 12.50% and B17.05%). The most common cause of perinatal mortality was prematurity in 44.87%. The worst outcome was recorded for the age groups 15-19 and ${\geqq}$40, in which perinatal mortality were 50.00%, respectively. The perinatal mortality of both A and B infants was lowest in the group diagnosed early during antenatal care before delivery. On the basis of our findings, we wish to emphasize particularly the importance of the early diagnosis of twins.

• Neonatal Medicine
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• 제17권1호
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• pp.75-83
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• 2010

목 적 : 미숙아 동맥관 개존의 일차적인 치료제로 인도메타신이 효과적으로 쓰이지만 일부에서는 폐쇄 실패로 반복 투여나 수술적 치료를 필요로 한다. 동맥관 개존은 미숙아에서 높은 유병률, 사망률의 원인으로 내과적 치료가 실패 했을 경우 단락이 많으면 조기에 외과적 결찰을 고려해야 한다. 본 연구에서는 미숙아에서 동맥관개존에 대한 인도메타신의 1차 투여 후 치료 효과에 영향을 미치는 요인들을 분석하여 동맥관 개존 폐쇄 실패를 예측 할 수 있는 중요한 예측 인자를 알아보고 약물재투여 및 외과적 결찰이 필요한 환아를 조기에 선별 하여 대비함으로써 합병증을 최소화 하는데 도움이 되고자 하였다. 방 법: 1990년 1월부터 2007년 12월 사이 고려 대학교 의료원 신생아 중환자실에 입원 하였던 재태기간 37주 미만의 미숙아 중에서 동맥관 개존으로 진단되어 인도메타신을 투여 받았던 43명의 미숙아를 대상으로 하였다. 1차 투여 후 동맥관이 폐쇄된 27명을 폐쇄군으로, 폐쇄에 실패한 16명을 비폐쇄군으로 하여 두 군 간의 차이를 비교 분석하였으며 인도메타신 치료 효과에 영향을 줄 수 있는 인자들에 관하여 후향적으로 조사하였다. 결 과:대상 환아는 총 43명으로 남아 20명(46.5%), 여아 23명(53.5%) 이었다. 평균 아프가 점수는 폐쇄군이 1분에 4.1$\pm$2.1점, 5분에 6.1$\pm$1.9점이었고, 비폐쇄군은 1분에 5.4$\pm$1.7점, 5분에 7.3$\pm$1.2점으로 폐쇄군에서 통계적으로 유의하게 점수가 낮았다(P<0.04, P<0.03). 산전 스테로이드 투여를 받은 경우는 폐쇄군 16명(59.3%), 비폐쇄군 3명(18.8%)으로 폐쇄군에서 통계적으로 유의하게 높았다(P<0.01). 도파민 투여는 폐쇄군 17명(63.0%), 비폐쇄군 3명(18.8%)으로 폐쇄군에서 유의하게 높았다(P<0.01). 진단 시 연령은 폐쇄군 3.6$\pm$2.1일, 비폐쇄군 5.0$\pm$2.2일로 비폐쇄군에서 유의하게 높았다(P<0.05). 이들 주산기 인자 간의 다중로지스틱 회귀분석 결과 산전 스테로이드 투여만이(OR0.092, CI 0.010-0.826, P=0.0331) 동맥관 폐쇄 실패에 영향을 미치는 독립적인 인자로서 관련이 있었다. 결 론 : 본 연구에서는 산전 스테로이드를 투여 받은 산모에게서 출생한 미숙아에서 통계적으로 유의하게 동맥관 폐쇄 실패율이 낮게 나타났다. 그러므로 미숙아에 서 동맥관 개존 조기 진단과 함께 적극적인 산전 스테로이드 투여가 동맥관 개존 폐쇄 실패율을 낮추는 중요한 인자라 생각된다.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제23권6호
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• pp.531-538
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• 2020

Purpose: Our aim was the longitudinal assessment of cyst size in fetuses with biliary cystic malformation (BCM) to explore its etiology and the possibility of antenatal differentiation between biliary atresia (BA) and congenital biliary dilatation (CBD). Methods: We conducted a retrospective review of all patients diagnosed antenatally with BCM from 1994 to 2014 at our institutions. Results: The study cohort comprised of three patients with BA and six with CBD. There were no significant differences in the gestational age and cyst size at the first detection of BCM between the two groups. In fetuses with CBD, the cyst size steadily increased as the gestational age advanced, while it fluctuated around 1.5 cm and remained below 2.1 cm in those with BA. However, the ratio of cystic area to fetal trunk area was approximately constant due to linear fetal growth in fetuses with CBD. Conclusion: Fetuses with BCM <2.1 cm in the late gestation period were more likely to have BA than CBD. Our observation of cyst enlargement with advancing gestational age in the CBD group was attributed solely to fetal growth. Biliary dilatation in fetuses with CBD and BA might be completed at the onset of BCM.

• Child Health Nursing Research
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• 제29권2호
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• pp.101-110
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• 2023

Purpose: Developmental disabilities (DDs) are a global childhood problem whose prevalence is rising, with a disproportionate impact on individuals in low-and middle-income countries. However, data on the prevalence of DDs in the Arab world are limited. This review highlights what is currently known about the prevalence and risk factors of DDs in preschool children in the Arab world. Methods: PubMed, Cochrane Library, Scopus, CINAHL, Science Direct, and Google Scholar were searched for publications on DDs among preschool children in the Arab world. Only 14 studies were identified in the literature, from 12 Arab countries. Results: The overall estimated prevalence of DDs among preschool children in the Arab world is 27.5%. An analysis of risk factors for DDs showed that child-related, maternal, and family-related factors account for a significant cumulative risk of developing DDs in preschool children. Maternal factors, such as antenatal and perinatal complications, were the most common risk factors. Conclusion: The prevalence of DDs among preschoolers is significantly high in the Arab world, which emphasizes the importance of the early detection and diagnosis of DD, as well as its associated risk factors.

• Annals of Clinical Neurophysiology
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• 제6권2호
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• pp.65-74
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• 2004

Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of inherited muscle disorders caused by the mutations of different genes encoding muscle proteins. In the past, when the molecular diagnostic techniques were not available, the subtypes of muscular dystrophies were classified by the pattern of muscle weakness and the mode of inheritance, and LGMD had been considered as a 'waste basket' of muscular dystrophy because many unrelated heterogeneous cases with 'limb-girdle' weakness were put into the category of LGMD. With the advent of molecular genetics at the end of the last century, it has been known that there are many subtypes of LGMD caused by the mutation of different genes, and now, LGMD is classified according to the results of the linkage analysis and the genes or proteins affected. Only small proportion (probably less than 10%) of LGMD is dominantly inherited, and autosomal dominant LGMD (AD-LGMD) consists of six subtypes (LGMD1A to 1F) so far. In autosomal recessive LGMD (AR-LGMD), more than 10 subtypes (LGMD2A to 2J) have been linked and most of the causative genes have been identified. Among AR-LGMDs, LGMD2A (calpain 3 deficiency), 2B (dysferlin deficiency), and sarcoglycanopathy (LGMD2C-2F) are major subtypes. The defective proteins in LGMDs are components of nuclear envelope, cytosol, sarcomere, or sarcolemma, and seem to play a different role in the pathogenesis of muscular dystrophy. It is notable that many causative genes of LGMDs are also responsible for other categories of muscular dystrophy or diseases affecting other tissue. However, by which mechanism they produce such a broad phenotypic variability is still unknown. The identification of mutation in the relevant gene is confirmative for the diagnosis, and is essential for genetic counseling and antenatal diagnosis of LGMD. Because many different genes are responsible for LGMD, differentiation of subtypes using immunohistochemistry and western blotting is the essential step toward the detection of mutation. For the effective research and medical care of the patients with muscular dystrophy in Korea, a research center with a medical facility supported by the government seems to be needed.

• Journal of Chest Surgery
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• 제42권3호
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• pp.364-367
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• 2009

후복막강 폐격리증은 극히 드문 질환으로 보통은 임신 6개월경에 시행하는 태아 초음파로 발견되며 드물지만 성인에서 우연히 발견된다. 후복막강 폐격리증은 그 위치와 방사선학적인 소견이 신경아세포종 등의 다른 후복막강 종괴와 아주 유사하기 때문에 그 발생 빈도가 극히 드물더라도 후복막강 종괴가 의심될 때 감별을 요한다. 세침 흡입 검사가 수술 전 진단에 도움이 된다고 하지만, 수술적 제거가 환자의 예후나 경과를 생각 했을때 좋은 치료 방법이라고 생각된다.

• Advances in pediatric surgery
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• 제10권1호
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• pp.17-21
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• 2004

Improvement in prenatal ultrasonography is leading to diagnose choledochal cyst before birth and before onset of classical symptom more frequently. But, there is a controversy about optimal timing for Cyst excision of prenatally diagnosed asymptomatic choledochal cyst. To identify the most appropriate timing for surgery in prenatally diagnosed choledochal Cysts, we analyzed 6 patients who had operation for choledochal cysts within 30days after birth at the division of Pediatric Surgery, Samsung Medical Center and Inha University School of Medicine, from June 1995 to June 2002. Males were four and females 2, the mean age at operation was 11.2 days, and the median age 8.0 days. The range of gestational ages of the antenatal diagnosis of bile duct dilatation was 24 weeks to 32 weeks, mean was 38.3 weeks, and mean birth weight was 3,298.3 g. After birth, abdominal ultrasonography, hepatobiliary scintigraphy, and magnetic resonance cholangiopancratography (MRCP) were performed. Mean age at operation was 11.2 days. All patients had the cyst excision and Rouxen-Y hepaticojejunostomy. Immediate postoperative complication was not found. During the median follow-up period of 41 months, one patient was admitted due to cholangitis, and the other due to variceal bleeding. Early operative treatment of asymptomatic newborn is safe and effective to prevent developing complications later in life.

• 대한임상검사과학회지
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• 제39권3호
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• pp.151-155
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• 2007

Diagnosis and prevention of cytogenetics diseases are one of the most important parts in prenatal care. For that reason, it is necessary to examine birth defects. However, there is no reliable statistical data about birth defects in our country. In this study, the ratio of birth defects were determined by cytogenetics analysis and amniocentesis, in addition, the usefulness of amniocentesis was analyzed. The screening test and the triple marker test were conducted for 3,325 pregnant women of between 15 and 22 weeks gestation. Amniocentesis was performed for 170 pregnant women who were positive in the two tests, 184 women of advanced maternal age and 48 women with family history of chromosome aberrations. Among 419 women, 8 pregnant women who were positive in the triple marker test, 1 woman who close to the cut-off value in the triple marker test, 2 women with advanced maternal age and 1 woman who has history of chromosome aberration pregnance that was positive in cytogenetics analysis. The overall incidence of chromosomal aberration was 12 cases including 7 cases of Down's syndrome, 1 case of Patau syndrome, 1 case of Klinefelter syndrome, 1 case of Edward syndrome, 1 case of Robertsonian translocation and 1 case of XYY syndrome. These results show that amniocentesis for pregnant women who need chromosome test in prenatal cytogenetics analysis is very useful.