| Purpose : Recurrent abdominal pain syndrome(RAPS) is not uncommon in school-aged children, but the etiology and pathogenesis are not understood well. But recent studies suggest that motility disorder makes up a majority of the pathogenesis. The aim of this study was to investigate gastric emptying time(GET) which is a method to evaluate gastrointestinal motility in patients with recurrent abdominal pain... |
| Williams syndrome was first reported in 1961, it is characterized by distinct facial changes, growth deficiency, mental retardation, congenital heart defect(particularly the supravalvular aortic stenosis), associated at times with infantile hypercalcemia. The diagnosis of this disease relied on phenotype, after recent acknowledgement of its genetic basis on the 7th chromosomal locus q11.23 involving elastin gene on the PCR. Recently, commercial... |
| Purpose : The aim of this study was to assess the involvement of several organs patients with Marfan syndrome in Korea. Also the clinical features in childhood patients with Marfan syndrome were assessed. Methods : Thirty-eight cases of Marfan syndrome were enrolled in this study. Clinical evaluations of the musculoskeletal, cardiovascular and occular system were performed in all cases. Results : The... |
| Purpose : Long-term steroid therapy for various glomerular disorders in children has been known to decrease serum Vit D3 level and develop osteomalacia. The aim of this study was to observe the effect of long-term steroid therapy on growth and bone density in children with nephrotic syndrome. Methods : Bone density of 17 steroid-treated nephrotic syndrome was compared with that of... |
| When dysfunction of two or more endocrine glands occurs in association with circulating organ specific antibodies directed against the involved glands, the term polyglandular autoimmune(PGA) syndrome is applied. This syndrome is usually classified into three groups. The autoimmune nature of this disease has been based on the presence of lymphocytic infiltration of the affected glands, organ specific autoantibody in serum,... |
| Purpose : This study was conducted to establish the prevalence and clinical features of WPW- type ventricular preexcitation syndrome in children. Methods : Eighteen patients were discovered by the mass heart disease screening using ECG on 47,691 elementary school children in Kwangju from September 1992 to December 1994(group 1), and 14 patients were diagnosed at the Department of Pediatrics, Chonnam... |
| Purpose : To evaluate the association between neonatal mortality and the initial response to surfactant replacement therapy, and to examine the correlation between the response type and other prognostic factors. Methods : Sixty-seven neonates with respiratory distress syndrome(RDS) were divided into two groups; group I(n=51) who survived and group II(n=16) who died within the first 28 days of life after one... |
| Purpose : Surfactant replacement therapy significantly decreases neonatal complications and mortality in neonates with respiratory distress syndrome(RDS), but clinical responses to the treatment is not consistent. An analysis of the perinatal factors influencing the clinical response to the therapy is important for early detection of high risk and prognosis. The purpose of this study is to analyze the clinical... |
| Fetal alcohol syndrome is characterized by distinctive facial appearance, prenatal onset growth deficiency, an increased frequency of development and mental retardation, cardiac anomaly and genitourinary anomaly. Complete abstinence during pregnancy is recommended, since alcohol consumption in each trimester has been associated with abnormalities. We experienced a case of fetal alcohol syndrome in a 11-month-old female infant. Her mother had drunk... |
| Superior mesenteric artery aneurysm is very rare complication of Marfan syndrome, especially in children. A 11 years old male patient was admitted to the hospital because of fluctuating high fever and diagnosed as infective endocarditis and Marfan syndrome. During antibiotics therapy, fever was slowly decreased but abdominal pain was developed and pulsatile abdominal mass was palpable in the midline of... |
| Purpose : Myoclonic epilepsy with ragged red fiber(MERRF) syndrome is a disease of the mitochondrial encephalomyopathies, characterized by progressive myoclonus(action), epilepsy, cerebellar ataxia, intention tremor, muscle weakness, progressive dementia, sensorineural hearing loss and optic atrophy. Its inheritance is maternally inherited mitochondrial mutation, and its pathologic finding is characterized by ragged red fibers(RRF). Biochemically its defects are diverse. This study was... |
| Purpose : Developmental processes of atria in embryos or fetuses of the iv/iv mouse were studied to find the differences between right and left atrial chambers and to identify the characteristics of atrial isomerism in the abnormal laterality syndrome. Methods : Seventy-three embryos from SI/Col iv/iv mice(Jackson's laboratory, USA) or fetuses at the 10th-13th day were used. They were examined using... |
| Meckel-Gruber syndrome is a multiple malformation syndrome featuring occipital meningoencephalocele, multicystic dysplasia of kidney, cystic and fibrotic change of liver, polydactyly, and other characteristics inherited by the autosomal recessive trait. We exprienced a case of Meckel-Gruber syndrome in a newborn male diagnosed clinically and confirmed pathologically. Abnormalities of the fetus were found prenataly by ultrasonogram, and subsequently the baby was... |
| Purpose : Lennox-Gastaut syndrome is an intractable epilepsy which is comprised of several types of etiology and generalized seizures. It also combines with mental retardation. The present study was made to ascertain the clinical study on Lennox-Gastaut syndrome in Korea. Methods : From January, 1985 to December, 1995, 31 children, diagnosed with Lennox-Gastaut syndrome at Kyung Hee University Hospital, were analyzed... |
| Berry syndrome is a rare association of congenital heart anomalies which consists of a distal aortopulmonary window with aortic origin of the right pulmonary artery and hypoplasia or interruption of the aortic arch. This defect can be corrected only by immediate surgical intervention, so accurate preoperative diagnosis and detailed anatomic depiction of this syndrome are important in prognosis. We experienced a case of Berry... |
| Purpose : In this study, natural pulmonary surfactant was extracted from bovine lung lavage and its surface activity was determined. To investigate the usefulness of synthetic peptides reconstituted with phospholipid as artificial surfactant, truncated peptides from surfactant protein (SP)-B were synthesized and restored the surface tension lowering activities when appropriately recombined with phospholipid. Methods : Crude natural surfactant(CNS) was isolated from lung lavage by centrifugation... |
| Diffuse mesangial sclerosis(DMS) is one of the underlying pathology of congenital and infantile nephrotic syndrome. Infants with DMS develop nephrotic syndrome before 2 years of age and progress to end stage renal disease within 3 years of age. The authors experienced a case of isolated DMS in a 4-month-old male infant who had nephrotic syndrome for 1 month. The diagnosis... |
| Alagille syndrome is characterized by chronic cholestasis, posterior embryotoxon, skeletal abnormalities, cardiovascular abnormalities, and a typical face with prominent forehead and pointed chin. Its histological feature includes paucity of interlobular bile ducts. We experienced a 49-day-old female infant presenting with frequent upper respiratory tract infection and persistent jaundice. She had a typical face and chronic cholestasis. Echocardiograms revealed peripheral pulmonary... |
| We experienced a case of DiGeorge syndrome in a 25-day-old male infant presented with micrognathia, short neck, fish-shaped mouth and intractable seizures with a loading dose of phenobarbital & dilantin. The serum calcium level was 3.7mg/dl, ionized calcium level was 0.62mmol/L, and parathyroid hormone carboxy-terminal level was 0.01ng/ml. We treated with it calcium gluconate infusion, low phosphorous formula milk feeding, and... |
| Purpose : Catheter ablation using radiofrequency currents have been proven to be an effective and safe tool for the treatment of adult patients with accessory atrioventricular pathways. This study was designed to analyze the efficacy of this method in childern and adolescents. Methods : Using radiofrequency currents, cathether ablation of an accessory pathway was performed in 54 patients(mean age 11.8 years)... |
| Purpose : To examine the clinical effects of early dexamethasone treatment from postnatal age of 1 week to ventilated preterm infants with respiratory distress syndrome. Methods : 14 one-week-old ventilator-dependent infants were enrolled. Seven received dexamethasone and another 7 did not receive. The doses of dexamethasone used were 0.25mg/kg twice daily for 3 days, 0.125mg/kg twice for 1 day, then 0.125mg/kg... |
| Purpose : It has been reported that patients with nephrotic syndrome have high serum IgE value and IL-4 involve in IgE synthesis, IL-6 is an autocrine growth factor for the proliferation of mesangial cells. We studied association between serum cytokines and of nephrotic syndrome. Methods : We measured serum IL-6, IL-4, IFN-Υ, CD23 in 14 children with nephrotic syndrome and 3 healthy children by... |
| Purpose : We are inclined to analyze the relationship between the intrapulmonary right-to-left shunt and the PaO2/PaCO2 after endotracheal single-dose surfactant instillation to premature neonates with respiratory distress syndrome within 6 hours after birth. Methods : From Jan. 1993 to Jun. 1995, we have conducted a clinical trial of surfactant replacement therapy to the premature neonates with respiratory distress syndrome at the neonatal intensive care unit... |
| Pena-Shokeir syndrome is a rare, often lethal disease, characterized by intrauterine growth retardation, craniofacial anomalies, limb ankylosis, polyhydramnios and pulmonary hypoplasia. This autosomal recessive disease should be differentiated from trisomy 18, which the second most common multiple congenital malformation syndrome. It is therefore clear that the two syndromes have certain features in common, the most consistent being craniofacial and limb abnormalities and intrathoracic pathology. Therefore,... |
| Purpose : Considering that renal biopsy is not routinely indicated in nephrotic syndrome in children and the risk of the procedure, we studied that it is possible to predict steroid responsiveness in nephrotic syndrome and the difference in responsivenss is related with the histopathologic type using urinary β2-microglobulin and N-Acetyl-β-D-Glucosaminidase activity as a safe and noninvasive method. Methods : We measured serum creatinine, albumin, cholesterol... |
| Down syndrome is the most common autosomal syndrome in man. The incidence of trisomy 21 due to translocation is about 3.5-5%. Translocations are usually centric fusions between a 21 and a D group (54.2%) or a G group (40.9%) chromosome. Since the short arm of 21 carries no phenotypically active genes, even if the short arm of 21 is lost, usually there is... |
| Authors experienced a case of Morquio’s syndrome accompanied by respiratory failure in a aged fifteen year old boy. Patient showed normal intelligence, but stunted growth with short trunk and unproportionately large head, pectus carinatum, kyposcoliosis, muscular weakness, paralysis and genu valgum. No other member of family was affected with this syndrome. There were radiological findings of subluxation between first and second cervical vertevrae, central beaking with... |
| Purpose : Juvenile myoclonic epilepsy, juvenile absence epilepsy, and epilepsy wth generalized tonic clonic seizure(GTCS) on awakening are the three syndromes of idiopathic generalized epilepsy of adolescent onset currently included in the classification of epilepsy syndromes of the International League Against Epilepsy(ILAE). Although they differ in their predominant seizure types, the syndromes share several seizure types. Also, there are no unique electrophysiologic or genetic markers.... |
| Purpose : With the recent advent of surfactant replacement therapy, there is an increasing need for a rapid and reliable test to predict respiratory distress syndrome (RDS) immediately before or at birth. There are many investigations and methods for the detection of RDS in prenatal or postnatal period. The stable microbubble rating test (SMR-test) developed by pattle et al. is rapid and simple test... |
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