PURPOSE: This prospective pilot study is a part of the Korean NIH's effort to characterize con- genital anomalies and genetic disorders in Korea and to establish a National Genetic Database. METHODS: This population-based study was conducted at all hospitals that deliver in the province of Suwon; a total of 39 hospitals from May 1, 1997 to April 30, 1999 for a two-year period. All outcome of pregnancies, including liveborn, stillborn, and TOP over 20wks gestation were subjects of this study for the presence of major congenital anomalies. Delivery records of each hospital and pediatric records of one tertiary hospital were collected and analyzed. RESULTS: The total number of pregnancy was 30,319 yielding 30,653 deliveries, including 269 still-born and 27 TOPs. The overall incidence of congenital anomalies was 1.2Yo(366 cases among 30,653 deliveries) with 0.5Yo from primary hospital, 1.4Yo of general hospital deliveries and 4.5Yo of tertiary hospital deliveries. The incidences of selective major congenital anomalies per 1,000 deliveries were 0.82 for Down syndrome, 1.79 for cleft lip with or without cleft palate, and 0.39 for open neural tube defect. CONCLUSION: This pilot study represented the first community-based population data on congenital anomalies in Korea, differing from previous studies based on selective population of relative high-risk population from tertiary hospital delivery. Search for congenital anomalies among cohort by reviewing pediatric records yielded 38Yo of total anomalies, indicating the importance of combining both delivery and pediatrics records in generating accurate data for the incidence of congenital anomalies. (J Korean Pediatr Soc 2000;43:738-745)
Cleft Lip ; Cleft Palate ; Cohort Studies ; Congenital Abnormalities* ; Databases, Genetic ; Down Syndrome ; Epidemiologic Studies* ; Gyeonggi-do ; Hospitals, General ; Incidence ; Korea ; Neural Tube Defects ; Parturition* ; Pediatrics ; Pilot Projects* ; Pregnancy ; Prospective Studies* ; Tertiary Care Centers

Glycogen storage diseases are inherited disorders of carbohydrate metabolism caused by a deficiency of enzymes that are involved in degradation of glycogen in the liver. The accumulation of glycogen occurs in the liver and other organs. Type Ia is the most common form and clinically may manifest of glycogen storage disease itself rather than growth hormone deficiency. But in this case the patient showed exceptional extreme growth retardation. Growth hormone stimulation test with clonidine and L-dopa revealed that the patient had growth hormone deficiency. Therefore, we report of a case of glycogen storage disease type Ia with the presence of GH deficiency with review of literature. A 16-year-old male was admitted for the evaluation of hepatomegaly and extreme short stature. The height was 113.5cm, less than third percentile of same age group, and compatible with fiftieth percentile of height of 6 years of age. After laboratory work up including liver biopsy, he was diagnosed with type I glycogen storage disease. The patient was presented with metabolic acidosis, hyperuricemia, and hypoglycemia. Hypoglycemia was managed with frequent feeding with high starch diet and intravenous glucose infusion. Metabolic acidosis was treated with sodium bicarbonate. Secondary hyperuricemia was treated with allopurinol. The patient is being followed at out-patient clinic with clinical improvement after of GH administration.
Acidosis ; Adolescent ; Allopurinol ; Biopsy ; Carbohydrate Metabolism ; Clonidine ; Diet ; Glucose ; Glycogen Storage Disease* ; Glycogen* ; Growth Hormone ; Hepatomegaly ; Humans ; Hyperuricemia ; Hypoglycemia ; Levodopa ; Liver ; Male ; Outpatients ; Sodium Bicarbonate ; Starch

Spinal cord herniation is a rare condition that has become increasingly recognised in the last few years. The authors report a case of idiopathic spinal cord herniation in a 33 year old woman performed with progressive Brown-Sequard syndrome. The diagnosis was made on MR imaging. After repairing the herniation, the patient made a gradual improvement. Potential causes are discussed, including a possible role of dural defect. In conclusion, idiopathic spinal cord herniation is a potentially treatable condition that should be more readily diagnosed that increasing awareness and improved imaging techniques.
Brown-Sequard Syndrome* ; Diagnosis ; Female ; Humans ; Magnetic Resonance Imaging ; Spinal Cord*

Estrogen may promote osteoblast/osteocyte viability by limiting apoptotic cell death. We hypothesize that hsp27 is an estrogen- regulated protein that can promote osteoblast viability by increasing osteoblast resistance to apoptosis. The purpose of this study was to determine the effect of estrogen treatment and heat shock on TNF alpha- induced apoptosis in the MC3T3-E1 cell line. Cells were treated with 0 - 100 nM 17betaestradiol (or ICI 182780) for 0 - 24 hours before heat shock. After recovery, apoptosis was induced by treatment with 0 - 10 ng/ml TNF alpha. Hsp levels were evaluated by Northern and Western analysis using hsp27, hsp47, hsp70c and hsp70i - specific reagents. Apoptosis was revealed by in situ labeling with Terminal Deoxyribonucleotide Transferase (TUNEL). A 5 - fold increase in hsp27 protein and mRNA was noted after 5 hours of treatment with 10 - 20 nM 17beta estradiol prior to heat shock. Increased abundance of hsp47, hsp70c or hsp70i was not observed. TUNEL indicated that estrogen treatment also reduced (50%) MC3T3-E1 cell susceptibility to TNF alpha-induced apoptosis. Treatment with hsp27-specific antisense oligonucleotides prevented hsp27 protein expression and abolished the protective effects of heat shock and estrogen treatment on TNF alpha-induced apoptosis. Hsp27 is a determinant of osteoblast apoptosis, and estrogen treatment increases hsp27 levels in cultured osteoblastic cells. Hsp27 contributes to the control of osteoblast apoptosis and may be manipulated by estrogenic or alternative pathways for the improvement of bone mass.
Apoptosis* ; Cell Death ; Cell Line ; Estradiol ; Estrogens* ; Hot Temperature ; HSP27 Heat-Shock Proteins ; In Situ Nick-End Labeling ; Indicators and Reagents ; Oligonucleotides, Antisense ; Osteoblasts* ; RNA, Messenger ; Shock ; Transferases ; Tumor Necrosis Factor-alpha

The causes of the chylothorax can be classified to the congenital cases, such as the atresia of thoracic duct and thoracic duct-pleura fistula, and the acquired ones, such as thoracic surgery, trauma, malignant disease, venous thrombosis, infection and so on. We experienced a case of left chylothorax in a 10-year-old girl with a lymphangiomatosis of left thorax extending from axillar to buttock. She first received the two weeks of conservative management, which was unsuccessful to subside the chylothorax. Then she was taken the partial pleurectomy and chemical pleurodesis under the thoracoscopy as a surgical intervention, but this is also insufficient to reduce the chylous effusion. Finally she received 10 times of radiotherapy on left thorax, then the chylothorax is controlled completely.
Buttocks ; Child ; Chylothorax* ; Female ; Fistula ; Humans ; Pleurodesis ; Radiotherapy* ; Thoracic Duct ; Thoracic Surgery ; Thoracoscopy ; Thorax* ; Venous Thrombosis

PURPOSE: The aim of this study was to evaluate the clinical characteristics, endoscopic findings and risk factors related to the upper gastrointestinal bleeding (UGIB) seen in full-term infants. METHODS: A clinical analysis for 9 cases with UGIB confirmed by endoscopy was carried out retrospectively. Patients were admitted to the Department of Pediatrics, Eulji Hospital, from January to December 2003. RESULTS: UGIB from gastric or duodenal mucosal lesions has been seen in 0.13% in newborns infants. All patients were full-term AGA neonates without asphyxic findings at birth. Hematemesis, melena or recurrent vomiting developed within 4.4+/-3.8 days after birth. Vital sign and laboratory test was normal on admission. Endoscopic findings showed hemorrhagic gastritis in 6 cases and peptic ulcers in 3 cases. All patients were successfully managed by medical treatment for 18.6+/-5.0 days. On treatment, clinical symptoms improved within 0.9+/-0.3 days. Follow-up endoscopy was not performed because there was no recurrence of symptoms in all patients. Case mothers had no history of gastritis, ulcer or anti-ulcer medications before and during pregnancy. CONCLUSION: If the healthy full-term infants express UGIB within a few days after birth, it is necessary to take careful history of family, mother and delivery process and to practice endoscopy for mucosal lesions of the patients. A follow-up endoscopy dose not seem to be necessary if the infant is clinically well.
Endoscopy ; Follow-Up Studies ; Gastritis ; Hematemesis ; Hemorrhage* ; Humans ; Infant* ; Infant, Newborn ; Melena ; Mothers ; Parturition ; Pediatrics ; Peptic Ulcer ; Pregnancy ; Recurrence ; Retrospective Studies ; Risk Factors ; Ulcer ; Vital Signs ; Vomiting

BACKGROUND: The interferon-gamma (IFN-γ) releasing assay (IGRA) is widely used for latent tuberculosis infection (LTBI) diagnosis. We evaluated the analytical performance of a new automated chemiluminescent immunoanalyzer-based IGRA (CLIA-IGRA), AdvanSure I3 (LG Life Sciences, Seoul, Korea) and compared it with that of the QuantiFERON-TB Gold In-Tube (QFT-GIT) assay. METHODS: Repeatability and reproducibility were evaluated at four levels. Detection capability, including limit of blank (LoB), limit of detection (LoD), and limit of quantification (LoQ), was evaluated using IFN-γ standard material (National Institute for Biological Standards and Control code: 87/586). Agreement between the results of two assays was evaluated using 341 blood samples from healthcare workers and patients at a tertiary care hospital. To determine the cut-off value of CLIA-IGRA for diagnosing LTBI, the ROC curve was analyzed. RESULTS: Repeatability and reproducibility were 4.86–7.00% and 6.36–7.88% CV, respectively. LoB, LoD, and LoQ were 0.022, 0.077, and 0.249 IU/mL, respectively. IFN-γ values between CLIA-IGRA and QFT-GIT showed a strong correlation within the analytical measurable range of both assays, especially when the value was low. Qualitative comparison of the two assays yielded a 99.1% overall agreement (kappa coefficient=0.98). A cut-off value of 0.35 IU/mL was appropriate for diagnosing LTBI. CONCLUSIONS CLIA-IGRA is a reliable assay for LTBI diagnosis, with performance similar to that of QFT-GIT.

OBJECTIVE: Spinal epidural abscess (SEA) can be fatal if untreated, so early diagnosis and treatment are essential. We conducted a retrospective study to define its clinical features and evaluate the risk factors of motor weakness. METHODS: We retrospectively analyzed the medical records and images of patients with SEA who had been hospitalized in our institute from January 2005 to June 2012. Pyogenic SEA patients were categorized as patients without motor weakness (Group A) and with motor weakness (Group B). Abscess volume was measured using the Gamma-Plan program. Intervertebral foramen height and posterior disc height were measured to evaluate degree of spinal stenosis. RESULTS: Of 48 patients with pyogenic SEA, 33 (68%) were treated surgically, and 15 (32%) were treated with antibiotics. Eleven patients had weakness and abscess volume was unrelated to motor weakness. Old age, 'spare room' (abscess volume subtracted from spinal volume) and intervertebral foramen height and posterior disc height were statistically significant. Among the 48 patients, 43 (85%) had good outcome and erythrocyte sedimentation rate (ESR) was the only meaningful prognostic factor (p=0.014). The cut-off value of ESR was 112mm/h with 80% sensitivity and 79% specificity and had borderline significance (p=0.062). CONCLUSION: SEA needs emergent diagnosis and treatment. Motor weakness is the most important factor in treatment decision. By careful image reading, early surgical treatment can be an option for selected patients with severe spinal stenosis for prevent motor weakness. Inflammatory markers, especially ESR, are valuable to identify worsening of SEA.
Abscess ; Anti-Bacterial Agents ; Blood Sedimentation ; Causality* ; Diagnosis ; Early Diagnosis ; Epidural Abscess* ; Humans ; Medical Records ; Retrospective Studies ; Risk Factors ; Sensitivity and Specificity ; Spinal Stenosis

Heparin-induced thrombocytopenia (HIT) is an immunologically mediated complication of heparin therapy resulting in the consumption of platelets and a catastrophic thromboembolism. Both the clinical and laboratory features are important for a diagnosis of HIT. There have been 3 case reports of suspected HIT in Korea. However none have satisfied the laboratory features. We experienced a case of HIT, which satisfied both clinical and laboratory features, in a patient who received heparin during continuous veno-venous hemodiafiltration (CVVHD) used to treat acute renal failure that developed after a total aortic arch replacement with a cardiopulmonary bypass. The decreased platelet count and obstruction of extracorporeal filter of CVVHD by the blood clot was observed while receiving unfractionated heparin. The serum from the patient contained the anti heparin-platelet factor 4 antibody, and the condition was thus diagnosed as HIT. Argatroban, which is a direct thrombin inhibitor, was used to treat the thrombosis.
Acute Kidney Injury ; Aorta, Thoracic* ; Cardiopulmonary Bypass ; Diagnosis ; Hemodiafiltration* ; Heparin ; Humans ; Korea ; Platelet Count ; Thrombin ; Thrombocytopenia* ; Thromboembolism ; Thrombosis

BACKGROUND: Confirmation of central venous catheter position with chest X-ray is recommended, but frequently omitted in clinical practice. It was suggested that the head posture during right subclavian catheterization affects the incidence of catheter malposition in infants. We evaluated the influence of the head posture on catheter position during right subclavian catheterization in adults. METHODS: Two-hundred and seventy four patients scheduled for thoracic or neuro-surgery requiring central venous catheterization were enrolled. Patients were divided into 3 groups depending on the head posture during catheter insertion: the neutral group (n = 109), the turn away group (n = 72), and the turn toward group (n = 93). The catheter position was confirmed with postoperative chest X-ray. RESULTS: Central venous catheterization was failed in 5 patients. There were no differences in the incidence of catheter malposition and the complications among the 3 groups. CONCLUSIONS: The head posture during right subclavian catheterization did not affect catheter malposition and immediate complication rates.
Adult ; Catheterization* ; Catheterization, Central Venous ; Catheters* ; Central Venous Catheters* ; Head* ; Humans ; Incidence ; Infant ; Posture* ; Subclavian Vein ; Thorax