Quantification of Organic Acids in Amniotic Fluid for Prenatal Diagnosis of Organic Acidemia / 소아과

PURPOSE: Since 1997, the quantification of organic acids in urine has become possible in Korea. This helped to diagnose a great variety of inborn errors of metabolism. However, we still don't know the normal value of organic acids in amniotic fluid, therefore it is impossible for doctors to make a correct diagnosis of inborn errors of metabolism in prenatal care. We tried to confirm the normal value of organic acid in amniotic fluid. METHODS: From Jan. 1998 to Dec. 2001, we carried out amniocentesis and were able to obtain 43 samples of amniotic fluid from between 16 and 20 weeks of gestation, and quantified 82 organic acids to come up with a normal value. Organic acid concentrations were quantified with gas chromatography, and the individual acids were identified with mass spectrometry. To isolate organic acids from amniotic fluid, we used a solvent extraction method with ethylacetate. Derivatization was done with MSTFA(N-methy-N-trimethylsilylfluoroacetamide). RESULTS: The results of this study showed that when organic acid concentrations in amniotic fluid were compared with those in urine, TCA cycle intermediates(lactate, pyruvate, malate, 2-ketoglutarate, citrate etc) and ketone body(3-hydroxybutyric acid, acetoacetate etc) were found at significantly higher levels. CONCLUSION: Because TCA cycle intermediate in amniotic fluid is found at high concentrations, we could expect that diagnosis of mitochondria disorder is difficult. Organic acids other than TCA cycle intermediates were undetectable in amniotic fluid. Therefore, prenatal diagnosis of organic acidemias is possible. In our study, the prenatal diagnosis of methylmalonic acidemia could be made by using the measurement of methylmalonic acid in the amniotic fluid taken at high risk pregnancy with a family history of methylmalonic acidemia.

Urine Organic Acid Analysis of Patients with Febrile Seizures / 소아과

PURPOSE: Febrile seizure, the most common seizure disorder in children between 6 months and 5 years of age, is mostly caused by viral infections, except severe CNS infection. It can also be caused by disorders in organic acid metabolism, especially accompanied by fever. Therefore we decided to investigate the relationship between children with febrile seizures and disorders in organic acid metabolism. METHODS: We examined 54 children with febrile seizure who visited Chunchon Sacred Heart Hospital Emergency Department from February 2002 to January 2004. We conducted urine organic acid analysis, CBC, urine analysis, serum ammonia and gas analysis. RESULTS: Thirteen(24.1%) patients showed ketonuria, eight(14.8%) patients showed lactic aciduria and ketonuria, two(3.7%) patients showed pyruvic aciduria, and one(1.8%) showed mandelic aciduria. CONCLUSION: Twenty four of 54(44.4%) showed abnormal findings in urine organic acid analysis. Most results are ketonuria or lactic aciduria with ketonuria. They may show in fasting, severe infection or ketolytic defect(ex, 3-ketothiolase deficiency). Patients with 3-ketothiolase deficiency, can develop seizures during fever, and fasting state. Therefore further evaluation is necessary.

The Pattern of Weight Gain and Change of Peripheral Serum Lipid Profiles in Idiopathic Epileptic Children Treated with Valproate

PURPOSE: This study was performed to investigate the change of weight and body composition, and lipid profiles in the idiopathic epileptic children treated with valproate. METHODS: We measured the weight, height, left arm circumference, left triceps skinfold thickness of 30 idiopathic epileptic children treated with valproate before, at 1 month and 4 months of treatment. We also analyzed the serum lipid profiles of the patients before and at 4 months of treatment. We analyzed the change of Body Mass Index (BMI), Arm Muscle Area(AMA), Arm Fat Area(AFA), and the serum lipid profiles. Two-way analysis of variance, chi-square test and paired-t test were used for statistical analysis. RESULTS: There was no statistically significant change in BMI, AFA, AMA of the patients. But the weight of 13(44.3%) children increased greater than 10% with valproate treatment. AMA were not changed, but AFA were significantly increased, 791.2+/-209.6 mm2 before treatment, 858.1+/-246.6 mm2 at 1 month, 1051.7+/-393.2 mm2 at 4 months, in 13 patients, whose weight gain were greater than 10%(P<0.05). There was no change in cholesterols, low density lipoproteins, high density lipoproteins of the 30 children. CONCLUSION: The increase of the weight in the children treated with valproate resulted from the increase body fat. So the weight gain may be a risk factor of obesity

Intussusception due to Diverticulum of Ileocecal Area: A case report / 대한소아소화기영양학회지

Intussusception is a frequent cause of bowel obstruction in the first five years of life and it is one of the most common surgical emergencies in infancy and early childhood. The age of five months child was administered in Department of Pediatrics of Chunchon Sacred Heart Hospital. His main symptoms were vomiting and high fever for three days. Abdominal sonography, air reduction and abdominal computerized tomography (CT) were performed and the conclusion of these study was intussusception due to cyst mass lesion; duplication cyst, mesenteric cyst or Meckel's diverticulum. He was transferred for operation. We had performed laparotomy for reduction of the intussusception. Operative findings revealed ileocolic type of intussusception due to cystic tumor on ileocecal valve that was invaginated into the cecum, and hyperplasia of the Peyer's patch were seen. But we failed manual reduction because of the tumor in the ileocecal area. So we had performed partial resection of the ileocecum. Diverticulum of the ileum was confirmed by pathologic examination. We experienced unusual cause of the intussusception. So we report this case with a review of the literatures.

Comparison of the Clinical Outcomes Between Neoadjuvant Chemotherapy and Radiotherapy Alone in Patient with Cervical Cancer / 대한부인종양콜포스코피학회잡지

PURPOSE: The locoregional failure rate remain high in advanced cervical carcinoma. Chemotherpy(CT) was added to radiotherapy(RT) in order to improve therapeutic result. We performed this study to evaluate the response rate, toxicities and survival benefit of neoadjuvant chemotherapy and to investigate potential role of neoadjuvant chemotherapy in treatment of cervical cancer. METHODS AND MATERIALS: The patients(68 cases of cervical cancer) were divided into two groups ; The one group was neoadjuvant chemotherapy followed by radiotherapy(n=30) and the other was the radiotherapy(n=38) group. The patients were maintained by regular follow-up and evaluated with regards to treatment related toxicity and effectiveness by response using World Health Organization criteria and 5-year survival rate. RESULTS: 30 patients were assigned to receive neoadjuvant chemotherapy. After chemotherpy, the overall clinical response rate was 46.7%. The response rate of neoadjuvant chemotherapy followed radiotherapy was higher than that of the radiotherapy in cervical cancer (100% vs 84.2%). The 5-year survival rate of patients was not different between two groups(p>0.05). Toxicities of chemotherapy were generally tolerable and usually well resolved with conservative treatment. CONCLUSION: Neoadjuvant chemotherapy followed radiotherapy help to improve response rate but did not affect survival benefit in the cervical cancer in this study. However, well controlled long-term prospective study will be need to get firm conclusion.

A Case of Cyclosporine A: Induced Encephalopathy in a Child with Nephrotic Syndrome

Cyclosporine A is the most frequently used immunosuppressive agent for prevention of graft versus host disease (GVHD) and treatment of frequently relapsing nephrotic syndrome in childhood. Some adverse effects such as hepatic and renal toxicity, have been frequently encountered. But central nervous system toxicity caused by cyclosporine A is rare, and the incidence of encephalopathy among patients recieving cyclosporine A is unknown. Brain magnetic resonance imaging is an essential tool for diagnosis of cyclosporine A neurotoxicity. It typically demonstrates nonenhancing symmetric subcortical, and sometimes deep white matter changes resembling edema with posterior hemisphere predominance. We report a child with nephrotic syndrome who developed encephalopathy during cyclosporine A therapy. Based on this study, we emphasize that careful follow up of patient's neurological finding is very important to prevent serious life-threatening complications.