Galactosemia Detected by Neonatal Screening Test

PURPOSE: The genetic disturbance of galactosemia is expressed as a cellular deficiency of either galactose-1-phosphate uridyltransferase(GALT) or galactokinase(GALK) or UDP galactose 4-epimerase(GALE). To find-out the pattern of galactosemia in Korea, we retrospectively analyzed cases of galactosemia detected by neonatal screening program. METHODS: We analyzed medical records of patients who visited Soonchunhyang University Hospital at age of 1 month after showing abnormalities in neonatal screening of galactosemia. For accurate diagnosis, galactose was measured by enzyme immunoassay(EIA) and fluorophotometer, also galactose-1-phosphate by fluorophotometer. Enzyme activities of GALK, GALT and GALE in RBC and galactose-1-phosphate were measured by radioisotope assay(RIA). Beutler test were done. Patients went on a lactose-free diet and follow-up tests for galactose, galactose-1-phosphate level and enzyme activity were performed. RESULTS: 10 patients(male : 6, female : 4) were diagnosed as galactosemia. Two patients had GALK deficiency and two had GALT deficiency. Six were GALE deficient showing the largest number. In two patients with GALK deficiency, GALT and GALE activities were normal but GALK activities showed respectively reduced activity. For GALT deficiency, two patients had low GALT activity in RBC and showed genotype of Duarte 2/G(galactosemia) in DNA analysis. In one patient, GALT activity was normal. Three patients seemed to be heterozygote state of GALE deficiency according to GALE activity levels. Four patients showed GALK hyperactivity. CONCLUSION: GALE deficiency provided the highest number. After lactose-free diet, galactose and galactose-1-phosphate were normaly maintained. Neonatal screening on galactosemia is essential for preventing life-threatening symptoms and an accurate diagnosis is needed for finding out the type of galactosemia which is important for prognosis.

Comparative Study for Detection of Specific IgE in Allergic Disease; Skin Prick Test, RAST, and Dipstick Test / 소아알레르기및호흡기학회지

PURPOSE: To evaluate the valuability of dipstick IgE detection method as a screening test for allergic diseases, we compared the results of dipstick test to that of RAST and skin prick test. METHODS: Twenty children who visited to pediatric allergy clinic in Soon Chun Hyang University were enrolled to comparative study of dipstick IgE detection method to Skin prick test and RAST. Dipstick IgE detection method was performed by using AllergodipR(Allergopharma Joachim Ganzer KG). We compared the sensitivity and specificity of dipstick IgE detection method to RASt and skin prick test. RESULTS: The sensitivity and specificity of AllergodipR for inhalant allergen(D.pteronyssinus) to RAST were 100%, respectively. The sensitivity and specificity of AllergodipR for inhalant allergen(D. pteronyssinus) to skin prick test were 77.8% and 90.9%, respectively. The sensitivity and specificity of AllergodipR for food allergen to RAST were 0% and 100%, respectively. The sensitivity and specificity of AllergodipR for inhalant allergen(D. pteronyssinus) to skin prick test were 0% and 100%, respectively. CONCLUSION: The dipstick method(AllergodipR) can be used as a screening test for detection of specific IgE to inhalant allergen.

Treatment of Congenital Dislocation of Hip in Children Under the Age of 2 Years / 대한정형외과학회잡지

The authors report a clinical experience of 95 patients (98 hips) with congenital dislocation of hip under the age of 2 years who were followed up at least 1 year at Chonnam University Hospital between 1979 and 1988. The result of clinical analysis are as follows; 1. The most patients were girls, comprising 87 girls (89 hips) and 8 boys (9 hips). 2. The age at treatment were under the age of 6 months in 49 hips, 7 to 12 months in 5, 13 to 18 months in 30 and 19 to 24 months in 14. 3. The initial treatment of the 98 hips were Pavlik harness in 49 hips, closed reduction in 18, and open reduction in 31. 4. Pavlik harness was applied to the patients under the age of 7 months and the results were acceptable in 37 hips (76%), uncertain in 4 (8%) and unacceptable in 8 (16%). The 8 unacceptable hips were retreated by closed reduction in 6 hips and open reduction in 2. 5. Closed reduction was applied to the patients ranging from the age of 4 months to 21 months and the results were acceptable in 14 hips(78%), unacceptable in 4 (22%). The 4 unacceptable hips were retreated by open reduction in 3 hips and Salter innominate osteotomy in l. 6. Open reduction was applied to the patients ranging from the age of 7 months to 20 months, and the results were acceptable in 26 hips (84%), uncertain in 3 (10%) and unacceptable in 2 (6%). The one of 2 unacceptable hips was retreated by Salter innominate osteotomy. 7. The overall results of 98 hips following initial treatment were acceptable in 77 hips (79%), uncertain in 7 (7%), and unacceptable in 14 (14%). The final results after secondary treatment were acceptable in 89 hips (91%), uncertain in 7 (7%), and unacceptable in 2 (2%).

Treatment of Congenital Dislocation of the Hip by Closed Reduction / 대한정형외과학회잡지

The closed reduction has made an important contribution to the treatment of children under the age of 24 months. The authors report a clinical experience of 20 patients(21 hips) with congenital dislocation of hip who were treated by closed reduction at the department of Orthopaedic Surgery of Chonnam University Hospital. There were total 230 patients(237 hips) disgnosed as having congenital dislocated hip for 10 years from 1978 to 1987 and 20 patients of them were included in this study. The follow-up period ranged from 1 year to 10 years with an average 3 years. The results are as follows: l. All but one were girls, comprising 19 (20 hips) of 20 patients. 2. The age at closed reduction were under 6 months in 2, 7 to 12 months in 4, 13 to 18 months in 10 and 19 to 24 months in 4. 3. Of the 21 hips treated by closed reduction, 17 hips achieved a satisfactory result(81%). The other four hips had redislocation(2 hips) and subluxation(2 hips). 4. Four additional treatments were open reduction in 3 and Salter innominate osteotomy in l. 5. The acetabular and center-edge angle improved from the averge 36.1 and

Treatment of Congenital Dislocation of the Hip with the Pavlik Harness / 대한정형외과학회잡지

The congenital dislocation. of the hip is a common congenital disease in the orthopedic field. It is well known that the early diagnosis and effective treatment is very important for the patient to provide a favorable function in the whole life. The Pavlik harness made an important contribution to the treatment of children before standing age. The authors report a clinical experience of 34 patients(35 hips) with congenital dislocation of hip who were treated with Pavlik harness at the Department of Orthopedic Surgery of Chonnam University Hospital. There were total 230 patients(237 hips) diagnosed as congenital dislocation of hip for 10 years from 1978 to 1987. Fifty-one patients(52 hips) of them were treated with Pavlik harness. Only 34 patients(35 hips) were included in this study excluding 17 patients(17 hips) because of inappropriate records or follow-up. The follow-up period ranged from 1 year to 6 years with an average of 2 years and 5 months. The results are as follows ; 1. The most patients were girls, comprising 33 girls and 1 boy. 2. The age of children was 124.6days in average ranging from 13 to 201 days. 3. Of the 35 hips treated with Pavlik harness, satisfactory reduction was obtsined in 30 hips(85.7%). For 5 failed cases, the authors performed closed reduction under the general anesthesia in 3 cases and open reduction in 2 cases. 4. The causes of reduction failure were impossible reduction in 3 cases, nonconcentric reduction in 1 case and repeated redislocation in 1 case. 5. The acetabular and metaphyseal-edge angle improved from the average 33 and 5.8 degrees at the first visit to the average 19.9 and 30.6 degree at the final follow-up (20.7 and 29.2 degrees in normal side). 6. When compared with the value of the 30 hips which were reduced successfully, the initial acetabular angle of 5 failed cases was similar but the metaphyseal-edge angle of them was very low. 7. There was no reduction failure in 27 hips which had metaphyseal-edge angle above 10 degrees. But 5 reduction failures were observed in 8 hips with below −11 degrees. 8. An avascular necrosis was observed in only one patient. In conclusion, the Pavlik harness proved to be a successful means in treating patients with congenital dislocation of hip under 7 months of age with particularly above −10 degrees in metaphyseal-edge angle.