• Clinical and Experimental Pediatrics
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• v.57 no.6
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• pp.292-296
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• 2014

The deletion of the distal long arm of chromosome 1 is associated with a characteristic facial appearance and a pattern of associated malformations. Characteristic manifestations include a round face with prominent 'cupid's bow' and downturned corners of the mouth, thin vermilion borders of lips, a long upper lip with a smooth philtrum, a short and broad nose, epicanthal folds, apparently low-set ears, micrognathia, microcephaly, abnormal hands and feet, variable cardiac or genital anomalies, moderate to severe mental retardation, and growth retardation. Using fluorescent in situ hybridization (FISH) analysis to map precisely the deletion, we present a case of chromosome 1q44 deletion with craniofacial characteristics, multiple congenital anomalies, and growth and psychomotor retardation. In comparison with other reported cases of 1q43-44 deletion, the subject does not show hydrocephalus, seizure, syn- or polydactyly of hands, and a urogenital anomaly. However, an arachnoid cyst, pinpoint dimple on the midline of the forehead, a right-sided supernumerary nipple and auricular pit, polydactyly of the right foot, adducted thumb, and flexion restriction of the proximal interphalangeal joint with a simian line in both hands were observed additionally.

• Journal of Chest Surgery
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• v.6 no.1
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• pp.109-112
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• 1973

Bochdalek hernia is the most common congenital diaphragmatic hernia and that of the foramen of Bochdalek is rare in right side of the diaphragm. Two cases of right Bochdalek hernia were reported in literatures published in Korea. The first case was associated with hypoplasia of the lung and could not be survived. The second case [four months old male infant] was operated on August 28, 1971. at Ewha University Hospital arid survived. The third case was a three months old male infant who had been born at 8th lunar month in a private clinic. During the period of three months prior to admission this premature infant was suf-fered from mild respiratory distress measured as pneumonia. On December 20. 1972, this infant was admitted at Kyung Hee University Hospital with severe respiratory distress developed abruptly. Chest X-ray examination [barium study] demonstrated right diaphragmatic hernia. Right hemithorax was filled with intestines and right lobe of the liver which were repositioned back into the peritoneal cavity through the foramen of Bochdalek. 3. 0 cm x3.5 cm in size, and the defect was closed with interrupt mattress sutures. There was hypospadia with chordee but no other associated anomalies such as hypoplasia of the lung, malrotation or malfixation of intestines, and cardiovascular anomalies. The Postoperative hospital course was not eventful and the baby was discharged on the 14th postoperative day.

• Journal of Information Processing Systems
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• v.9 no.3
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• pp.435-460
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• 2013

Recommender systems are popular applications that help users to identify items that they could be interested in. A recent research area on recommender systems focuses on detecting several kinds of inconsistencies associated with the user preferences. However, the majority of previous works in this direction just process anomalies that are intentionally introduced by users. In contrast, this paper is centered on finding the way to remove non-malicious anomalies, specifically in collaborative filtering systems. A review of the state-of-the-art in this field shows that no previous work has been carried out for recommendation systems and general data mining scenarios, to exactly perform this preprocessing task. More specifically, in this paper we propose a method that is based on the extraction of knowledge from the dataset in the form of rating regularities (similar to frequent patterns), and their use in order to remove anomalous preferences provided by users. Experiments show that the application of the procedure as a preprocessing step improves the performance of a data-mining task associated with the recommendation and also effectively detects the anomalous preferences.

• Childhood Kidney Diseases
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• v.9 no.2
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• pp.213-221
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• 2005

Purpose : Urachal anomalies are rare but are known to develop several complications, especially infection. Moreover, uniform guidelines for management have not been presented because of the variable clinical characteristics of these anomalies. The purpose of this report is to review our experience with urachal anomalies and attempt to determine the optimal management. Methods : We retrospectively reviewed the records of fourteen children with a variety of urachal anomalies who had been treated from January 1996 to June 2005 at Dong Kang General Hospital. Results : The age distribution of the patients(mean age; 3.8 years) was six neonates, one infant, five preschool-age and two school-age children. The male to female ratio was 1:1. Six cases of urachal cyst, four cases of patent urachus, two cases of urachal sinus and two cases of urachal diverticulum were found. Three patients with patent urachus and one with urachal cyst had hydronephrosis. Other associated anomalies included an inguinal hernia in one patient with urachal sinus and a vesicoureteral reflux in one patient with urachal diver ticulum. As a first-line diagnostic tool, high-resolution ultrasound examination was performed in thirteen cases and computed tomography in one case. Surgical excision was performed in nine patients with urachal anomaly. Five cases out of six neonatal cases experienced spontaneous improvement during a three-month follow up period. Due to frequent infection of the umbilicus, surgical excision was performed on one neonate with urachal sinus. Conclusion : All patients with urachal anomalies should undergo investigation for associated anomalies. The neonate with urachal anomalies, especially patent urachus, do not require surgical excision unless the patient has multiple episodes of recurrent infection. (J Korean Soc Pediatr Nephrol 2005;9:213-221)

• Advances in pediatric surgery
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• v.1 no.2
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• pp.149-161
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• 1995

The first national survey on esophageal atresia and tracheoesophageal fistula was conducted to access the current status of its incidence, clinical manifestation, preoperative diagnosis and management, type of its anomaly, associated anomalies, and surgical results and course. The 43 members of the Korea Association of Pediatric Surgeons received questionnaires and registration forms to be filled out on each patient who were born during the three years from January 1, 1992 through December 31, 1994. Questionnaires composed of six broad areas which include 1) preoperative diagnosis and management, 2) surgical technic, 3) long gap, 4) postoperative management, and 5) complications and courses. A total of 148 cases was returned by 28 members working at 23 institutions and 27 members returned questionnaires. We obtained the following results by analysis of the 148 cases of tracheoesophageal anomalies. The incidence of tracheoesophageal anomaly was about 1/10,000-11,000 in 1994, which is one third of that of anorectal malformations in Korea and the distribution of the patients was almost proportionate to the size of each province. Both sexes are about equally affected. Majority of the members make diagnosis of tracheoesophageal anomaly by taking a simple infantogram with a radiopaque tube in upper pouch and a little under half(46%) prefers to perform echocardiography as a part of preoperative management to identify congenital heart disease and lateralize the aorta. Esophageal atresia with distal TEF(87.5%) was by far the most common and there were pure esophageal atresia(5.6%), H-type TEF(2.1%), and so on. About half(49%) of the patients had one or more associated anomalies in addition to tracheoesophageal anomalies. Congenital heart disease was associated in 46 cases(31%), anorectral malfomations in 19 cases(13%), musculoskeletal anomalies in 15 cases(10%), genitourinary anomalies in 10 cases(7%) and gastrointestinal anomalies in 7 cases(5%). Postoperatively, parenteral nutrition and assisted ventilation were given in 66% and 52% of patients respectively. Ninety three(74%) of 126 cases who underwent sugical procedure, experienced one or more complications such as respiratory complication(65%), leak(22%), stricture(21%) and so on. The survival rates related to the Waterston risk categories were 90.2% in group A, 71.4-75% in $B_1$, $B_2$, and $C_1$, groups, and 28% in group $C_2$, and the overall survival rate was 71.4%. Thirty six(28.6%) of 126 cases died of pneumonia/sepsis(12 cases), respiratory failure(12 cases), and congenital heart disease(4 cases). With short term follow-up, 69% of patients have been excellent whereas remainders of the cases have suffered from some sort of morbidity related to gastroesophageal reflux, recurrent respiratory infection, and esophageal stricture.

• Childhood Kidney Diseases
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• v.14 no.1
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• pp.42-50
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• 2010

Purpose : The clinical characteristics and associated anomalies in children with solitary kidney (SK) were analyzed retrospectively. Methods : Total 38 children diagnosed to have SK at our hospital between December 1989 and December 2009 were recruited, and the clinical records including imaging studies were retrospectively reviewed. SK was defined as unilateral renal agenesis by imaging studies only, and patients with regression of unilateral dysplastic kidney were excluded. Results : Among total 38 patients, 12 were male. The median age at the diagnosis of SK was 6.5 months (at birth-13 years). SK was detected by prenatal ultrasonography in 14 patients and during work-up for renal or urinary tract diseases in 13 (including urinary tract infection in 7). In 10 patients, SK was detected incidentally. Anomalies in the SK were noted in 17 patients including vesicoureteral reflux in 11. Other anomalies in the genitourinary tract were present in 16 patients, and multi-organ-involving syndromes or chromosomal anomalies were detected in 9. The mean duration of follow-up was 9 years (9 months-20 years). Two patients developed chronic renal failure during follow-up, and the median serum creatinine concentration of the remaining 36 at their last follow-up was 0.6 mg/dL. Conclusion : SK may be isolated and clinically asymptomatic; it is frequently accompanied by other anomalies in genitourinary tract and other organs, some of which can induce progressive renal dysfunction. Early recognition of associated anomalies with SK and regular follow-up is recommended to reduce long-term risk.

• Journal of Animal Reproduction and Biotechnology
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• v.35 no.3
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• pp.265-267
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• 2020

The congenital head anomalies are most often used to describe defects in the eyes, mouth, nose, skull, and or brain. The faulty embryogenesis most likely found to be associated with abnormal genetic or epigenetic causes during pregnancy. Eventually it leads to congenital anomalies. Rabbit-headed Lamb (RH) is a disorder in sheep breeding that is characterized by some deformities in the head and the face. A dead -day old- crossbred white Najdi lamb with a deformed face and head was reported to be born in the current case. The external and physical examination revealed a deformed skull and facial region with a unilateral eye, fused mouth, pig-like nose, and patent skull with the brain coming out from left eye orbit. Additionally, the lamb was very skinny with unusual long extremities. This is the first report of this syndrome that describes such deformities in a stillbirth Najdi breed lamb.

• Journal of Korean Neurosurgical Society
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• v.41 no.1
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• pp.57-60
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• 2007

The incidence of diastematomyelia associated with teratoma is extremely rare. We present a case of sacrococcygeal teratoma in a neonate with split spinal cord malformation[SSCM]. Magnetic resonance imaging[MRI] showed a heterogenous mass lesion with cyst in the sacrococcygeal region and multiple spinal anormalies [diastematomyelia, tethered cord, hydromyelia, and hemivertebrae]. The mature teratoma was confirmed on histopathological examination. In SSCMs, the potential for coexisting congenital anomalies at separate levels of the spinal cord must be considered in radiological investigations.

• Proceedings of the KSRS Conference
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• v.1
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• pp.328-331
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• 2006

Eight years of SeaWiFS data quantify variability in the time/space patterns of spring bloom development in the Gulf of Maine (GOM). Maximum and earliest spring bloom are usually observed over Georges Bank, later on the deep basins from the west to the east GOM, and latest development along the eastern Maine coast in cold, tidally mixed water. Pronounced interannual variability of spring bloom timing, spatial position, and magnitude are shown in the GOM. Strongest negative anomalies are present in April 1998 and 2001 over Georges Bank and the eastern GOM, and in January to April of 2005 over the most of GOM. Positive anomalies are strong in April 2001, 2003 and 2004 in varying locations as well as in February and March 1999. It is suggested that interannaul variability in spring phytoplankton bloom concentrations is strongly associated with changes in water mass and stratification which might be influenced by basin-scale forcing due to large climate change.

• Journal of Chest Surgery
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• v.23 no.6
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• pp.1139-1145
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• 1990

Seven infants less than age 3 months underwent patch aortoplasty and tube graft bypass for relief of coarctation of aorta. All had intractable congestive heart failure, despite aggressive medical therapy Each infant had other cardiac anomalies including patent ductus arteriosus, ventricular septal defect, atrial septal defect and congenital mitral stenosis. All patients underwent closure of the ductus arteriosus and patch angioplasty of the aorta to produce a luminal diameter of at least 15mm or tube graft interposition utilizing the Gortex tube graft diameter larger than 10mm. In 5 patients who had ventricular defect, they underwent pulmonary arterial banding. &ere was one hospital death 17 days after operation secondary to the hydronephrosis and renal failure. Hospitalization was less than 10 days after operation except one case. In 3 patients who had associated VSD, open heart surgery[VSD closure+PA debanding]was done without difficulty. Surgical repair of critical coarctation of the aorta in infants can safely be offered despite the poor preoperative condition and presence of other cardiac anomalies.