Kim Yeun-Hee;Kim Byoung-Ju;Park Moon-Sung;Yang Jung-In;Kim Haeng-Soo;Kim Pyung-Kil;Pai Ki-Soo
Childhood Kidney Diseases
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v.6
no.2
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pp.178-187
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2002
Purpose : The detection of hydronephrosis(HN) with antenatal ultrasonography was first reported in the 1970s. Prenatal HN is diagnosed with an incidence of 1:100 to 1:500 on antenatal screening. Recently, the purpose of antenatal screening has changed from simple detection to selection for specific diagnosis-based management. this study is to evaluate the usefulness of antenatal sonography for HN and to investigate the differential causes of HN and their clinical outcomes. Patients and methods : 11,783 live neonates with prenatal ultrasonographic examination at Ajou University School of Medicine, from Sep. 1994 to Aug. 2001 were analyzed. Results and conclusion : Hydronephrosis (>10 mm) was detected in 119 (1.0%) cases antenatally and among these, 91 were proved to have HN postnatally Males were three times more affected than females. Additional imaging studies revealed that ureteropelvic junction obstruction was the most common postnatal diagnosis (47%), followed by multicystic dysplastic kidney, vesicoureteral junction obstruction and vesicoureteral reflux. During 20 months' follow-up(3 to 72 months), 58(48%) renal units showed spontaneous resolution and surgical interventions were necessary in 10 (7.4%) of postnatally confirmed hydronephrotic renal units.
Choi, Hyun Ah;Lee, Dong Jun;Shin, Son Moon;Lee, Yeon Kyung;Ko, Sun Young;Park, Sung Won
Childhood Kidney Diseases
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v.20
no.1
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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.
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.
Purpose : This study was performed to determine the predictors of failed closure of a patent ductus arteriosus (PDA) following the first course of indomethacin in symptomatic preterm infants. Methods : Forty three of 43 preterm infants, admitted to the neonatal intensive care unit diagnosed with PDA and treated with indomethacin at the Korea University Medical Center between January 1990 and October 2007, ware studied. The perinatal risk factors affecting the failed closure of PDA were retrospectively assessed. Results : The failed PDA closure group included 16 (37%) out of 43 infants three of whom underwent surgery. The closure group included 27 (63%) out of 43 infants. In the failed closure group, the Apgar scores (1 min, 5 min) were significantly higher (P<0.05) and antenatal steroid administration was significantly lower (P<0.05). In addition, dopamine administration was significantly lower (P<0.05) and the mean postnatal age at diagnosis was significantly lower (P<0.05). Multiple logistic regression for the prediction of failed PDA closure found only antenatal steroid administration (OR 0.092, CI 0,010-0.826, P=0.0331) as an associated factor. Conclusion : In patients with antenatal steroid administration the failed PDA closure rate was significantly lower. Therefore, antenatal steroid administration can be considered as an important factor for the closure of PDA in preterm pregnancies.
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.
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.
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.
Retroperitoneal pulmonary sequestration is an extremely rare congenital malformation. It is more frequently diagnosed in the antenatal period due to routine ultrasonic examinations that are conducted for a fetus or during the first 6 months of life, although retroperitoneal pulmonary sequestration is incidentally discovered in adults on rare occasions. Because the location and radiological findings of retroperitoneal pulmonary sequestration are very similar to those of another retroperitoneal masses, retroperitoneal pulmonary sequestration, although they are very rare, should be included in the differential diagnosis of a retroperitoneal suprarenal mass. Although fine needle aspiration may be considered as an aid for making the preoperative diagnosis, surgery remains the treatment of choice for symptomatic lesions and this surgery is associated with excellent results and a good prognosis.
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.
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.
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