| Short rib-polydactyly syndrome(SRPS) is a rare type of skeletal dysplasia characterized by short limb dysplasia, thoracic hypoplasia, polydactyly and multiple visceral anomalies. It is transmitted as a autosomal recessive trait. There have been 4 classic types of SRPS, of which Saldino-Noonan type is the most common, and is characterized by very narrow thorax, short limb, postaxial polydactyly, striking metaphyseal dysplasia... |
| Purpose : This study was undertaken to characterize molecular defects in Korean families with ornithine transcarbamylase(OTC) deficiency, correlate it with phenotype using in vitro expression study, and utilize it for making prenatal molecular diagnosis. Methods : To investigate molecular lesions resulting in OTC deficiency in 15 unrelated Korean families, the OTC genes of probands were amplified exon by exon and analyzed... |
| Purpose : Infection by Haemophilus influenzae Type B(Hib) occurs most often in infants and children who are 5 years old and less. The incidence is highest around 6 months of age, and then decreases thereafter as infants gain natural immunity. Hi PRP-D conjugate vaccine is poorly immunogenic in infants. However, immunogenicity PRP-D vaccine in Korean infants is unknown. This... |
| Purpose : It is known that insulin resistance and compensatory hyperinsulinemia from pancreatic islet cells to overcome insulin resistance could develop in children with simple obesity. When insulin resistance is aggravated by decompensation of high insulin secretion, obese children frequently progress to overt type 2 diabetes mellitus(DM). The purpose of the present study was to measure insulin sensitivity, glucose effectiveness,... |
| Purposes : Rotaviruses are the main cause of infantile diarrheal diseases worldwide. The purpose of this study is to obtain epidemiologic data of rotavirus infections in Korea. Methods : Stool specimens were collected from 150 patients with acute diarrheal symptoms, who were admitted to Yonsei Medical Center and Chungbuk National University Hospital. After isolating the virus from the specimens, the viruses... |
| Purpose : It has been shown that a considerable number of acute myeloid leukemia(AML) patients had both myeloid and lymphoid antigens. CD7 is a lymphoid antigen, often expressed in AML cells. We investigated 40 AML patients to clarify the relationship between the cellular characteristics and clinical features. Methods : We reviewed 8 CD7 positive(CD7+) AML patients and 32 CD7 negative(CD7-)... |
| Purpose : The purpose of this study is to help diagnosis migraine and tension-type headache in children with chronic recurrent headache by comparing clinical characteristics of migraine and tension-type headache Methods : We performed a clinical analysis of 89 children diagnosed as migraine and/or tension- type headache by using international headache society classification with the aid of Prenky’s criteria of migraine... |
| Ehlers-Danlos syndrome represents a group of inherited connective tissue disorders characterized by varying degrees of joint laxity, skin fragility and hyperextensibility, and a bleeding tendency. The essential defect is a quantitative deficiency of collagen. At present, 10 clinical forms have been recognized on the basis of extent and severity of the principal features, in combination with other abnormalities and the... |
| Purpose : Respiratory distress syndrome(RDS) is a major cause of death in premature babies. For the treatment of RDS, various artificial pulmonary surfactants have been used. The incidence of pulmonary hemorrhage is increased in association with surfactant therapy in extremely low birth weight infants. But the pathogenesis of this increased incidence is not clear. So we conducted this study... |
| Type 1 Gaucher disease is one of the most common genetic lysosomal storage disease caused by the deficiency of glucocerobrosidase. Deficiency of this enzyme results in accumulation of glucoceramide in the macrophage and leads to hepatosplenomegaly, pancytopenia, bone damage and sometimes can be fatal. Recently, enzyme replacement has been considered as a major therapeutic strategy and about 2,000 patients have... |
| Autoimmune hepatitis is an inflammatory liver disease characterized histologically by a dense mononuclaear cell infiltration of the portal tract, serologically by the presence of non-organ and liver specific autoantibodies and increased concentrations of IgG in the absence of a known etiology. Two types of autoimmune hepatitis are classified in the peripheral blood of antinuclear antibody and/or in antismooth muscle antibody(ANA/ASMA)... |
| Purpose : Vitamin D dependent rickets(VDDR) is a rare, autosomal recessively transmitted disorder characterized by hypocalcemia, hypophosphatemia, increased alkaline phosphatase, secondary hyperparathyroidism and many other clinical features. Type Ⅰ VDDR arises from primary deficiency in the renal 1α-hydroxylase that produces 1,25(OH)2D3. So patients with type I VDDR require life long administration of vitamin D. Methods : There had been 6 children(4... |
| A 5-year-old male patient was admitted due to fever, and right upper abdominal pain for 2 weeks. He showed severe right upper quadrant tenderness on palpation, hepatomegaly 5 cm below the right costal margin, no mass, and no splenomegaly. On biochemical studies, ALT was 380IU/ml, AST 462IU/ml, alkaline phosphatase 1,069IU/ml, γGTP 239IU/ml, and total bilirubin 2.1mg/dl. Endoscopic retrograde cholangiopancreatography (ERCP) showed cylindrical dilatations of... |
| Type IV renal tubular acidosis(RTA) is due to renal tubular bicarbonate wasting associated with mineralocorticoid deficiency. In its five subtypes, IV-4 is due to pseudohypoaldosteronism(PHA) evidenced by increased plasma renin and aldosterone. PHA is believed to result from distal tubular unresponsiveness to circulating aldosterone and has normal renal and adrenal fuction. Hypoaldosteronism can easily be suspected when the patient shows typical electrolyte imbalance (hyponatremia coupled with... |
| Purpose : Since umbilical cord blood (UCB), which used to be discarded, was found to be a source of enriched hematopoietic stem and progenitor cells, basic research to elucidate characteristics of UCB hematopoietic stem cells (HSCs) and its clinical application to bedside transplantation have been attempted. Moreover, stem cell transplantation (SCT) has expanded its role, not only in hematopoietic reconstitution, but in cancer therapy,... |
| Purpose : Lipids and fatty acids are very important for brain and nervous system in growing children. This study was carried out to compare the composition of serum lipids and fatty acids according to the type of feeding in children. Methods : One hundred and twenty two children aged from 5 month to 24 month who visited Soonchunhyang University Hospital from Mar. 1995 to... |
| 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.... |
| Aneurysm of the pulmonary artery is a rare entity. Aneurysm of the peripheral artery are even less common. An 14-year-old girl was admitted for the evaluation of cardiac murmur. There was a variable grade 2/6 systolic murmur along the left sternal border. The chest x-ray showed a round mass in the right perihilar region. Echocardiogram demonstrated a small muscular ventricular septal defect with mild... |
| Purpose : Most of invasive Haemophilus influenzae diseases occur in children under 5 years of age, and are due almost exclusively to type b strain. Although antibodies to several surface antigens of H.influenzae play a role in conferring immunity, antibody to the type b capsular polysaccharide appeared to have the most important protective functions. However, the antibody response to vaccines or natural... |
| Pseudohypoparathyroidism is characterized by target cell resistance to the effects of parathyroid hormone and classified into various types depending on the phenotypic and biochemical findings. Pseudohypoparathyroidism type II differs from type I in that the urinary excretion of cAMP is elevated both in the basal state and after stimulation with PTH. We experienced a case of pseudohypoparathyroidism type II in 12year old man who... |
| Purpose : To gather reference data for better genetic counseling, we have evaluated the outcomes of chromosomal analyses performed on the parents with chromosomal anomalous children and recurrent abortion in this hospital for the last 20 years. Methods : Subjected to study were 108 parents (50 fathers & 58 mothers) who had children with Down syndrome, other chromosomal and congenital anomalies, and those who... |
| Tyrosinemia type 1 is an autosomal recessive disorder caused by deficiency of the enzyme fumarylacetoacetate hydrolase(FAH). The disease is characterized by hepatic dysfuntion, hepatocellular carcinomas, renal tubular dysfunction, rickets, and neurologic crises. Two forms of the disease, acute and chronic, are thought to be from the residual enzyme activity in the liver. The diagnosis of the tyrosinemia type 1 is suggested by... |
| The authors report two cases of type II diabetes with and without a acanthosis nigricans in children and a case of obese child with acanthosis nigricans encountered at Seoul Eul Ji Hospital in 1994 with review of literatures on relationship of obesity, acanthosis nigricans and type II diabetes. In case 1, 14-year old girl, BMI was 24 (weight, 63.5Kg ; height,... |
| Purpose : Chromosomal abnormality is one of the major causes of spontaneous abortion, especially in abortion of first trismester. To detect the incidence and kinds of chromosomal abnormalities, we analyzed karyotypes of 240 cases of spontaneous abortus. Methods : We analyzed karyotypes of 240 cultured chorionic villi of products of conceptus from pregnant women with spontaneous abortions visiting CHA general hospital... |
| Haemophilus influenzae type b(Hib) is one of the most common organisms causing bacterial meningitis in children aged between 2 months and 6 years. Since introduction of Hib vaccination, the mortality from Hib meningitis has fallen, but major neurologic sequelae, ie, mental retardation, seizure, blindness, and persistent motor deficits, are serious problems. Cerebral infarction was rarely complicated during the course of meninigitis... |
| Purpose : The Haemophilus influenzae type b(Hib) was the most common cause of meningitis and invasive bacterial disease mainly in children 2 months to 5 years old in the United States. The conjugated Hib vaccines have recently been licensed by the US Food and Drug Administration for routine use in infants beginning at 2 months of age, and the Infectious... |
| Chondrodysplasia punctata is a rare congenital disorder of bone, which is characterized by radiographic manifestation of punctate calcification in epiphyseal areas, preformed in cartilage. We experienced a case of the non-rhizomelic chondrodysplasia punctata in a male neonate who showed cataract, saddle nose, stippled calcification on X-ray without coronal cleft of verte-brae and rhizomelia. |
| Laryngotracheoesophageal cleft is rare congenital anomaly due to failure of fusion of the e sophagus and the larynx. We experienced 1 case of larygotracheoesophageal cleft type III in neonate which was confirmed by autopsy. One day of age male newborn infant with grunting, retraction, and copious secretion canofirm diagnosis as laryngotracheoesophageal cleft type Ill by several radiographic studies and sutopsy. Brief review and... |
| Purpose : The purpose of this study was to analyse clinical and laboratory patterns in patients in Korea with juvenile Rheumatoid Arthritis(JRA), pauciarticular type and to know the characteristics of pauciarticular JRA in Korea. Methods : Twenty-three cases of pauciarticular juvenile rheumatoid arthritis(JRA) who were diagnosed in the department of Pediatrics, Seoul National University hospital (from june 1988 to May 1994)... |
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