The relationship between catechol-O-methyltransferase gene polymorphism and coronary artery abnormality in Kawasaki disease / 소아과

PURPOSE: Many gene polymorphisms are associated with coronary artery abnormalities in Kawasaki disease. Catechol-O-methyltransfe rase (COMT) plays an important role in the metabolism of catecholamines, catechol estrogen, and catechol drugs. Polymorphisms of the COMT gene are reported to be associated with myocardial infarction and coronary artery abnormalities. The aim of this study was to evaluate the relationship between COMT gene polymorphisms and coronary artery abnormalities in Kawasaki disease patients. METHODS: One hundred and one Korean children with Kawasaki disease and 306 healthy Korean control subjects were enrolled in this study. The polymorphisms of the COMT gene were analyzed by direct sequencing. RESULTS: There were no differences in the genotype and allelic frequency of the rs4680 and rs769224 polymorphic sites between Kawasaki disease and control subjects. Further, no significant difference was found in the rs4680 polymorphism between patients with coronary artery abnormalities and patients without coronary artery abnormalities (codominant P=0.32, dominant P=0.74, recessive P=0.13). However, the distribution of the rs769224 polymorphism was significantly different between patie nts with coronary artery abnormalities and patients without coronary artery abnormalities (codominant P=0.0077, dominant P=0.0021, recessive P=0.16). CONCLUSION: Our results indicate that the polymorphisms of the rs769224 gene might be related to the development of coronary artery abnormalities in Kawasaki disease.

A Case of Primary Fanconi Syndrome

Meningioma is the most common neoplasm of central nervous system which is hardly diagnosed by cytologic examination. However, preoperative cytologic diagnosis can be easily made in the case of extracranial meningioma, especially in head and neck lesion. We recently experienced a case of fine needle aspiration cytology of meningioma in submandibular area of a 24 year-old male patient. The smear revealed high cellularity in the clean background. Individual tumor cell of nests or syncytium had round or oval nuclei with fine chromatin and moderate amount of lightly stained cytoplasm with indistinct mar- gin. Characteristic cellular whorls, intranuclear inclusions and scattered psammoma bodies made it easy to diagnose a meningioma.

A Clinical Study of Congenital Urinary Tract Anomalies in Children

PURPOSE: A study was done to assess the incidence, clinical characteristics of urinary tract anomalies for decreasing urinary tract morbidity. METHODS: We review 98 cases of anomaly of urinary tract who were admitted Kyung Hee University Hospital between 1986 and 1995. We analyzed incidence and associated anomalies, associated diseases and treatment modalities. RESULTS: 1) It was composed of 45 cases (45%) of renal anomalies, 37 cases (37.7%) of ureteral anomalies, 7 cases (7.1%) of urethral anomalies, 3 cases Prune-belly syndrome, 3 cases of urachal remnants, 2 cases of bladder exstrophy, 1 cases of VATER syndrome. 2) Anomalies of the kidney were composed of 14 cases of renal agenesis, 11 cases of multicystic dysplastic kidney, 10 cases of hydronephrosis 3 cases of hypoplasia, 3 cases of polycystic kidney, 2 cases of ectopia, 1 case of malrotation and 1 case of horseshoe kidney, 20 cases (44.4%) were diagnosed before 1 month of life. 20 cases were male and 25 casses were female. Bilateral involvement were in 7 cases and 38 cases of unilateral involvement were composed of 23 cases of right side and 15 cases of left side. Operative treatment were performed in 15 cases (30%) of renal anomalies. The common chief complaint of renal anomalies were abnormal finding on urinalysis (24.4%), abnormal finding on fetal ultrasonogram (20%), gastrointestinal tract symptom (15.6%), and fever (9%). 3) Anomalies of the ureter were composed of 26 cases of ureteral duplication, 9 cases of UPJ obstruction, 2 cases of megaureter. Ureteric duplications included 8 cases of male and 18 cases of female and 19 cases were unilateral and 7 cases were bilateral. 19 cases were diagnosed before 5 years old. 19 cases (73.1%) had symptoms associated with urinary tract infection. 11 cases had abnormal finding of ipsilateral kidney on DMSA scan or IVP. Associated abnormalities were hydronephrosis, ureterocele and VUR. UPJ obstruction were mostly diagnosed before 1 month of life, 6 cases were male and 3 cases were female. 2 cases were bilateral and 3 cases were right side involvement and 4 cases were left side. CONCLUSIONS: It seems to be reasonable that we should recommend the patients with the symptoms of urinary tract diseases to do evaluate the possibility of congenital urinary tract anomalies.

Clinical studies of Henoch-Schonlein purpura which was considered as acute abdomen

Henoch-Schonlein purpura is a common pediatric disease presenting most frequently with skin, gastrointestinal, joint and renal manifestations. But in cases are infrequently only severe gastrointestinal manifestations. It is hard to diagnose promptly and exactly. Clinical manifestations and laboratory findings were observed and analyzed in 20 cases with Henoch-Schonlein purpura which were considered as acute abdomen, hospitalized at Kyung Hee university Hospital during the period from December, 1982 to September, 1992. The following results were obtained; 1) The age distribution of Henoch-Schonlein purpura had a peak incidence between 7 to 9 year old. And male preponderance was observed with male to female ratio of 2.33 to 1. 2) The most prevalent season for the initial presentation of Henoch-Schonlein purpura was in fall: in 10 cases (50%). 3) The frequency of each type of clinical manifestations showed 20 (100%), 20 (100%), 18 (90%), 8(40%) cases for skin, gastrointestinal, joint and renal manifestation respectively in order of frequency. 4) The common previous illness were URI, 40 cases (50%) and allergy, 2 cases (10%). 5) The onset time of skin manifestation from admission were 1 to 4 days (75%0, 5 to 8 days (15%), 9 to 12 days (10%) explolaparotomies were done the last 2 cases. 6) In all cases, X-ray study (100%), abdominal sono (50%), Meckels scan and colon study (5%) respectively were done. 7) Hematologically leukocytosis over 10,000/mm3 was observed in 80% of cases and increase in ESR over 20 mm/hr in 65% of cases. Coagulation studies, immunologic and complement level revealed the result within normal range in most of the cases. 8) Among 8 cases with renal involvement, all cases had both hematuria and proteinuria. 9) Most cases were recovered within 4 weeks but in 4 cases, renal biopsies were done because of relapse. The results were Meadow classification grade I (1 case), II (1 case), IVa (2 cases). After renal biopsy, steroid pulse therapy was started.