Congenital adrenal hyperplasia, especially due to steroid-12-hydroxylase(P450c21) deficiency, is one of the most common autosomal recessive inborn errors at adrenal steroidogenesis in Korean. Molecular genetic analysis has demonstrated that there are two steroid 21-hydroxylase genes, CYP21A1P and CYP21A2. The CYP21A2 gene encodes P450c21, whereas the CYP21A1P gene is a pseudogene. Since there is 98 percent homology between the CYP21A1P and CYP21A2 gene in nucleotide sequences, it has hampered the characterization of molecular defects in the CYP21A2 gene.In this study, efforts have been made to selectively PCR amplify the CYP21A2 gene and test feasibility of DNA microextraction from Guthrie card for prospective use of molecular screening. This study was also aimed at investigating deletion mutations in P450c21 deficient patients, as well as allele frequencies and average heterozygosity of exon 1 A/C polymorphism in Korean newborns. Genomic DNAs were obtained from Guthrie cards of 50 Korean newborns by microextraction method and these DNAs were analyzed by PCR-allele specific oligonucleotide(ASO) hybridization. First part of the CYP21A2 gene has been successfully amplified and digested by restriction enzyme using Taq I or Kpn I, subsequently run on 1.5% agarose gel to confirm its specificity. The anterior 1141 bp PCR product was utilized to examine the frequency and average heterozygosity of exon 1 A/C polymorphism in 100 alleles by ASO dot blot hybridization. Amplified genomic DNAs from four P450c21 deficient patients out of three families were screened by PCR to see if any one has complete deletion of the CYP21A2 gene.The results were as follows;1) The average 1230ng of genomic DNA was obtained form single semi-circled Guthrie card of 1/2 inch diameter by microextraction method, which has been successfully used for DNA analysis.2) The PCR amplified anterior 1141 bp product from the CYP21A2 gene was digested by Kpn I, generating 309 bp, 832 bp fragments, not by Taq I, indicating its specificity.3) The frequencies of exon 1 nucleotide 138 A/C polymorphism in Korean population were 0.81, 0.91 respectively, and average heterozygosity was 0.31.4) None of four P450c21 deficient patients turned out to carry complete deletion of the CYP21A2 gene based on selective PCR amplification of the CYP21A2 gene.In conclusion, dried blood spots from Guthrie card can be sued for DNA analysis because of easy sample collection, bandling, shipment, and DNA extraction feasibility. The selective PCR amplification of the CYP 21A2 gene will pave the way for molecular characterization in P450c21 deficient patients. The exon 1 A/C polymorphism can by efficiently used for molecular diagnosis of P450c21 deficiency in informative families, though it has a drawback of handling radioactive material.
Adrenal Hyperplasia, Congenital ; Alleles ; Base Sequence ; Diagnosis ; DNA ; Exons ; Gene Frequency ; Humans ; Infant, Newborn ; Mass Screening ; Methods ; Molecular Biology ; Polymerase Chain Reaction ; Prospective Studies ; Pseudogenes ; Sensitivity and Specificity ; Sepharose ; Sequence Deletion ; Steroid 21-Hydroxylase

PURPOSE: Neonatal surgical conditions affecting the gastrointestinal tract are varied, can affect any part of the intestinal tract, and frequently require urgent surgical intervention. Unfortunately, nonspecific and overlapping symptomatology exists among the conditions affecting the intra-aMominal intestinal tract and requires of the evaluating physician a thorough understanding of their pathophysiology. So we studied signs and symptoms, frequency and incidence, ages at diagnosis, and diagnostic method of the neonatal gastrointestinal obstructions. METHOD: We reviewed retrospectively the charts of patients, who had been diagnosed as gastrointestinal obstruction during the neonatal period, and had been admitted to Gyeongsang National University Hospital from Feb. 1988 to Feb. 1997. RESULT: Total 77 cases were enrolled in this study. There were 59 rnales (76.796) and female 18 cases (23.4%). The male to female ratio was 3.28: 1. Twenty-two cases of imperforate anus (28.6%), 18 cases of hypertrophic pyloric stenosis (23.4%), 15 cases of congenital megacolon (19.5%) were observed. Other diseases causing the neonatal gastrointastinal obstruction were annulus pancreas (7.8%), jejunal atresia (6.5%), duodenal atresia (1.3%), duodenal web (2.6%), ileal atresia (2.6%), midgut volvulus (2.6%), intussusception (1.3%), and trachoesophageal fistula (2.6%). The rnost common symptom was vomiting with 32 cases (41.6%), followed by abdominal distension with 31 cases (40.3%), absence of anus with 17 cases (22.1%), and delayed meconium passage with 9 cases (11.7%). Associated other anomalies were observed in 18 cases (23%). Imperforate anus was seen with the highest rate of associated anomalies. The most common associated anomaly was the cardiac anomaly. Colon study (26%), physical examination (24.7%), abdominal sonography (15.6%), upper GI series (11.7%), and simple abdomen (9.1%) were diagnostic in the neonatal gastrointestinal obstructions. Seventeen cases (22%) were died before or after the surgical intervention. CONCLUSION: Neonatal gastrointestinal obstructions were associated with the high mortality rate. Abdominal distension and vomiting were the specific symptoms of neonatal gastrointe- stinal obstructions. Extensive search for the associated anomalies are reqiured because of its high frequency in the patients of the neonatal gastrointestinal obstructions. Thorough physical examination, colon study, abdominal sonography, upper GI series, and simple abdomen were essential in the diagnosis of the neonatal intestinal obstructions.
Abdomen ; Anal Canal ; Anus, Imperforate ; Colon ; Diagnosis ; Female ; Fistula ; Gastrointestinal Tract ; Hirschsprung Disease ; Humans ; Incidence ; Infant, Newborn ; Intestinal Atresia ; Intestinal Obstruction ; Intestinal Volvulus ; Intussusception ; Male ; Meconium ; Mortality ; Pancreas ; Physical Examination ; Pyloric Stenosis, Hypertrophic ; Retrospective Studies ; Vomiting

BACKGROUND: We studied how periodic and complex heart rate dynamic changes as pulmonary artery pressure increases in 32 infants with ventricular septal defet. In addition, we tested the possibility that the dynamical changes can be used to noninvasively predict the pulmonary artery pressure. METHODS: During cardiac catherterization, mean pulmonary artery pressure was measured and, at the same time, 5minute segments of continous electrocardiographic recording was stored. High-(>0.15 hertz) and low-(0.03-0.15 hertz) frequency components of heart rate variability were computed using spectral analysis. Yhe overall complexity of heart rate time series was quantified by its approximate entropy. RESULT: Pulmonary hypertensive infants(mean pulmonary artery pressure>20mmHg, n=17) had significantly lower low-(p<0.05)and high-(p<0.05) frequency power and lower approximate entropy(p<0.0001) than pulmonary normotensive infants(mean pulmonary artery pressure20mmHg, n=15). The mean pulmonary artery pressure was significantly correlated not with the spectral powers but with approximate entropy(=-0.51, P=0.0001). Conclusion: It can be concluded that, in infants, pulmonary hypertension induced by left-to-right shunt lesions suppress both periodic and complex heart rate oscillation and that mean pulmonary artety pressure can be predicted by calculating approximate entropy of heart trate variability.
Electrocardiography ; Entropy ; Heart Rate* ; Heart Septal Defects, Ventricular* ; Heart* ; Humans ; Hypertension, Pulmonary ; Infant* ; Pulmonary Artery*

PURPOSE: This study was designed to analyze the results of echocardiographic findings in children with heart murmur detected at mass health screening in Kyeong-Nam province. METHODS: Between 1996 and 2001, children with heart murmur underwent the echocardiographic examination at Gyoeongsang National University Hospital. RESULTS: The number of children examined was 129 in 1996, 26 in 1997, 44 in 1998, 61 in 1999, 60 in 2000, and 49 in 2001. By the echocardiographic examination, innocent murmur was the most commonly diagnosed(31-65%) and ventricular septal defect(VSD) was the most common cardiac defect. Between 1996 and 1998, complex cyanotic heart diseases were more frequent. The number of patients undergoing surgical treatment was 9 in 1996, 10 in 1997, 7 in 1998, 5 in 1999, 2 in 2000, and 2 in 2001. CONCLUSION: By the echocardiographic examination, functional murmur was the most commonly diagnosed and VSD was the most common cardiac defect. Currently, heart defects detected tend to be more simple and the surgical treatment needed seems to decrease in number.
Child* ; Echocardiography* ; Heart Diseases ; Heart Murmurs* ; Heart* ; Humans ; Mass Screening*

No abstract available.
Antibodies* ; Korea* ; Prevalence* ; Rubella*

PURPOSE: Drowning is the second most common cause of accidental death in children, exceeded only by motor vehicle accidents. The purpose of the present study was to investigate the prognostic factors of near-drowning in children, such as age, sex, season, site of submersion, and initial clinical or laboratory manifestrations, and to formulate preventive strategies for decreasing injuries by drowning. METHODS: Sixty-one near-drowning children who were admitted to Gyeongsang National Hospital from January, 1988 to August, 1996, were identified. A review of the medical charts provided information concerning the submersion accidents. RESULTS: Boys had a greater risk of submersion than girls (m=42, F=19). The peak age of 1 to 4 years is consistent with the known propensity of toddlers for accidents. Submersion occurred 21 in the sea, 14 in rivers, 7 in bathtubs, 6 in puddles, 3 in ponds, 3 in swimming pools, 2 in valleys, 2 in water tanks, 2 in Korean classic toilets, and 1 in well. There were differences in the concentrations of electolytes between fresh and salt water submersion. Near-drowning occurred most commonly in summer, but it could be observed all the year round, because of the geographical factor of Chinju. Among 61 cases, 49 cases recovered without significant neurologic sequalae and 12 cases died or survived with severe anoxic encephalopathy. Poor prognostic factors were Glasgow coma scale (GCS) less than 5, body temperature less than 36.0degrees C, initial arterial pH less than 7.10, serum glucose over 300mg/dL, AST and/or ALT over 50IU/L, presence of early convulsion, presence of chest X-ray abnormalities, and need for an artificial ventilation. CONCLUSIONS: Childhood near-drowning accidents are more frequently observed in Chinju than expected in any other province of Korea. We found that known poor prognostic factors for death or severe neurologic sequalae also were operating in our study population. Preventive measures against drowning and near-drowning through school and local education programs seems to be the most important strategy. If submersion victim is found, a quick appropriate extensive cardiopulmonary resuscitation is important to prevent the death or neurologic sequalae.
Blood Glucose ; Body Temperature ; Cardiopulmonary Resuscitation ; Child ; Drowning ; Education ; Female ; Glasgow Coma Scale ; Gyeongsangnam-do* ; Humans ; Hydrogen-Ion Concentration ; Hypoxia, Brain ; Immersion ; Korea ; Motor Vehicles ; Near Drowning* ; Ponds ; Prognosis ; Rivers ; Seasons ; Seizures ; Swimming Pools ; Thorax ; Ventilation ; Water

PURPOSE: An excess of GH causes various problems within the cardiovascular system including cardiac hypertrophy and abnormalities of left ventricle (LV) function. To evaluate the cardiovascular effects due to GH treatment in idiopathic short stature (ISS), we measured the cardiovascular function. METHODS: Twenty-two echocardiographic studies were performed in ISS who were admitted from Jan. 1994 through Jul. 1996, and they were divided into two groups which revealed in 11 children with GH treatment and in 11 children without GH treatment. RESULTS: The results obtained were as follows, 1) The mean HR in GH group was significantly lower than that of control group (79.9+/-12/min vs. 90.2+/-9/min) (p<0.05), and the mean BP was the GH group 81.6+/-10mmHg and control group 77.7+/-7mmHg. 2) The mean LV isovolumic contraction time (LICT) in GH group was significantly longer than that of control group (35.6+/-3 vs. 32.3+/-2) (p=0.01), but within normal limits. And in GH group, the mean shortening fraction (SF), mean velocity of circumferential fiber shortening (mVcf), and systolic time interval (STI) were 33.9+/-3%, 0.99+/-0.2cir/sec, and 0.15+/-0.04, respectively. In control group, the mean those values were 33.4+/-5%, 0.95+/-0.2cir/sec, and 0.15+/-0.04, respectively. 3) In GH group, the mean isovolumic relaxation time (IRT), peak E velocity (E), peak A velocity (A), and Ea/Aa ratio were 0.05+/-0.01sec, 113.5+/-18cm/sec, 60.5+/-14cm/sec, and 3.9+/-2, respectively. In control group, the mean those values were 0.06+/-0.01sec, 117+/-1.4 cm/sec, 56.8+/-13cm/sec, and 4.7+/-2, respectively. 4) In GH group, the mean cardiac index (CI) and systemic vascular resistance (SVR) were 4304+/-1660ml/min/m2 and 6330+/-764mmHg/ml. In control group, the mean those values were 3835+/-838ml/min/m2 and 6218+/-588mmHg/ml. CONCLUSIONS: These results suggest that the cardiovascular effects did not differ from those in the controls and remained within the normal range after a mean GH treatment duration of 6.2 months.
Cardiomegaly ; Cardiovascular System ; Child ; Echocardiography ; Growth Hormone* ; Heart Ventricles ; Humans ; Reference Values ; Relaxation ; Systole ; Vascular Resistance

PURPOSE: The determination of exposure and prevalence of Mycoplasma pneumoniae pneumonia of any region should be helpful for clinical diagnosis. We studied the pattern of occurrence of M. pneumoniae pneumonia among children living in southern central Korea during the last 13 years. This area has a relatively small population and less mobility compared with metropolitan areas. METHODS: We performed a retrospective descriptive study of 143 patients admitted to the pediatrics ward among all the patients aged less than 15 years old diagnosed with M. pneumoniae pneumonia at our hospital, from July 1989 to June 2002. RESULTS: The percentiles of incidence per year compared to the total patients admitted to a pediatric ward per year were 0.52% in 1989, 0.48% in 1990, 0.13% in 1991, 0% in 1992, 1.85% in 1993, 1.00% in 1994, 0.15% in 1995, 0.53% in 1996, 1.75% in 1997, 0.65% in 1998, 0.24% in 1999, 1.14% in 2000, 1.30% in 2001, 0.53% in 2002. In the peak incidence of monthly distribution for two consecutive years with outbreaks, its outbreak in the first year was concentrated in late fall and winter, but its outbreak in the following year was earlier than first year. There was peak incidence of age distribution in 4-5 years. It is shown gradually that age distributions per year of outbreak became earlier in age. CONCLUSION: The occurrences of M. pneumoniae pneumonia in southern central Korea occurred at 3-4 year intervals, 1-2 years in duration, compared to three year intervals, one year in duration, according to reports from metropolitan areas before 1997.
Adolescent ; Age Distribution ; Child* ; Diagnosis ; Disease Outbreaks ; Humans ; Incidence ; Korea* ; Mycoplasma pneumoniae* ; Mycoplasma* ; Pediatrics ; Pneumonia* ; Pneumonia, Mycoplasma* ; Prevalence ; Retrospective Studies

Traditionally umbilical vein has been used for exchange transfusion in neonates. This method is relatively safe and effective but with a few complications. So via percutaneous femoral vein catheters we tried exchange transfusions in 30 patients with neonatal hyperbilirubinemia admitted to GNUH from September 1990 to August 1992. Femoral vein catheterization succeeded in 2~3 trials, In all cases high bilirubin level was lowered by half at the end of exchange transfusion. Transient microscopic hematuria by bladder puncture occurred in one neonate. Exchange transfusion via femoral vein catheter is a sage, easy and effective method.
Bilirubin ; Catheterization* ; Catheters* ; Femoral Vein* ; Hematuria ; Humans ; Hyperbilirubinemia, Neonatal ; Infant, Newborn* ; Punctures ; Umbilical Veins* ; Urinary Bladder

A retrospective clinical study on 63 cases of intussusception in infants and children, who were admitted to the department of pediatrics and surgery from May, 1974 to Feb. 1978, was done. The prognosis of this disease is dependent upon early diagnosis and treatment but the causatio of this disease is not clear yet. It is a relatively common disease and we think it is worthwhile to analyze our won cases. The results were : 1. Among 63 cases, 37 were admitted to the department of pediatrics and 36 were admitted to the department of GS. 2. In age distribution, 85% of the patients were under 1 year of age and the peak incidence was 3~9 months of age. 3. Male was predominant than female. Male to female ratio was 2.8:1 4. The 58.8% of the patients were above 50 percentile of body weight comparing with Korean standard data. 5. In the aspect of the etiology, 96.9% of the cases were idiopathic and only 3.1% of the cases had organic causes. 6. The 4 cardinal symptoms were abdominal pain(93.7%), vomiting(90.%), bloodymucous stool(80.1%) and abdominal mass(74.6%) 7. Among the cases, colocolic type was 33.3%, ileocolic type was 22.2% and ileocecal type was 20.6% 8. The 71.4% of the cases were reduced successfully by barium enema. 9. Recurrence rate was 4.8%.
Age Distribution ; Barium ; Body Weight ; Child* ; Early Diagnosis ; Enema ; Female ; Humans ; Incidence ; Infant ; Intussusception* ; Male ; Pediatrics ; Prognosis ; Recurrence ; Retrospective Studies