Search Results

1.Follow up Study of Outcome in Severe Hyperbilirubinemic Newborns Treated with Exchange Transfusion and Phototherapy.

Byoung Sun AHN ; Hyun Min PARK ; Baeck Hee LEE

Journal of the Korean Child Neurology Society 1999;7(1):96-106

PURPOSE: Cerebral palsy or hearing disability of hyperbilirubinemic complication was reduced by blood exchange transfusion(BET) and phototherapy(PT). But in spite of these treatment, abnormal Auditory Brainstem evoked Response(ABR) finding after BET or PT and neurodevelopmental defect due to chronic bilirubin encephalopathy were observed. So we have studied risk factors and outcome of chronic bilirubin encephalopathy after BET, and treatment of hyperbilirubinemia. METHODS: We have analyzed clinical characteristics, the finding and change of ABR after BET in 17 hyperbilirubinemic neonates, and in 8 hyperbilirubinemic neonates who were treated by phototherapy and 15 normal control neonates. RESULTS: 1) Mean bilirubin concentraion were 27.5+/-4.1mg/dL in BET group and 22.1+/-2.3 mg/dL in PT group. There were no difference of clinical findings between BET and PT group. 2) Change of ABR (1) Wave I loss resulted in 4 neonates, wave III loss in 3 neonates, and wave V loss in 2 neonates in BET group(P<0.05). (2) Wave I peak latency and hearing threshold in BET group were significantly increased more than normal control group(P<0.01). 3) In 10 neonates(58.8%) among 17 BET group, 4 neonates(50%) in 8 PT group were observed abnormal initial ABR finding after jaundice treatment. Age at treatment and duration of jaundice(interval between onset of jaundice and treatment) in abnormal ABR group were significant prolongation compared with normal ABR group(P<0.05). 4) Chronic bilirubin encephalopathy(CBE) was observed in 3 neonates(17.6%) among 17 BET group and showed higher of bilirubin level than normalized group after BET (31.1mg/dL vs 26.6mg/dL), other clinical findings showed no significant differences. CONCLUSION: Bilirubin level was significantly elevated in CBE more than in BET group and duration of jaundice, age at treatment were longer in abnormal ABR group than in normal ABR group. So not only bilirubin level but also duration of jaundice shoud be considered at jaundice treatment, and ABR has a potential utility in detection of acute brain toxicity of bilirubin and follow up evaluation of bilirubin encephalopathy.
Bilirubin ; Brain ; Brain Stem ; Cerebral Palsy ; Follow-Up Studies* ; Hearing ; Humans ; Hyperbilirubinemia ; Infant, Newborn* ; Jaundice ; Kernicterus ; Phototherapy* ; Risk Factors

PURPOSE: Methylenetetrahydrofolate reductase is an important enzyme in homocysteine metabolism. Since the identification of the gene locus and mutation of methylenetetrahydrofolate reductase, an increasing number of reports have suggested that elevated levels of homocysteine were associated with various kinds of arteriovascular disease and neural tube defect. Our research plans to investigate whether elevated levels of homocysteine are more common with neural tube defect and their family as compared to a control group. Also we did this research to bring a better understanding of the interaction between genetic defect and nutrition. METHODS: The study group consisted of 15 patients with meningomyelocele and 29 of their parents. The control group consisted of 9 children under 16 years without neural tube defect and 13 parents aged between 25 to 50 years who had given birth to, at least, one normal infant. We measured plasma homocysteine through a high performance liquid chromatography. RESULTS: There was no significant elevation of plasma homocysteine in the neural tube defect group and their family compared to the control group. The homocysteine levels were elevated in male and with advanced age. CONCLUSION: Our research demonstrated that the influence of environmental factors such as nutrition are also important as well as the genetic influence in homocysteine metabolism with neural tube defect.
Child ; Chromatography, Liquid ; Homocysteine* ; Humans ; Hyperhomocysteinemia ; Infant ; Male ; Meningomyelocele ; Metabolism* ; Methylenetetrahydrofolate Reductase (NADPH2) ; Neural Tube Defects* ; Neural Tube* ; Parents ; Parturition ; Plasma

8.The Prevalence of 677C=>T Mutation in Methylenetetrahydrofolate Reductase (MTHFR) Gene in Spinal Neural Tube Defect.

Baeck Hee LEE ; Kyu Chang WANG ; Hae Il CHEONG

Journal of the Korean Child Neurology Society 1998;6(1):55-61

PURPOSE: There is evidence that folic acid given before and during the first 4 weeks of pregnancy can prevent more than 50% of neural tube defect. It suggested that folic acid play a great role when a neural tube closes. Methylenetetrahydrofolate reductase (MTHFR) is an important enzyme in folate metabolism. Since the gene locus and mutation of MTHFR were identified, increased frequency of MTHFR variant was reported in neural tube defect. We studied the frequency of the 677C=>T mutation in the MTHFR gene to determine whether this MTHFR gene variant is more common in persons with neural tube defect and their families compared to a control population. METHODS: The study group consisted of 21 patients with meningomyelocele, 40 their parents and 7 siblings who were managed in Seoul National University College of Medicine and Dankook University Hospital during the period from Jan. 1997 to Dec. 1997. The control group consisted of 25 parents aged between 25 to 50 years who had given birth to, at least, one normal infant and 18 children under 16 years without neural tube defect. DNA was extracted from peripheral blood and a segment of the MTHFR gene was amplified using PCR technique. And treated with restriction enzyme, Hinf1. The restriction pattern was analyzed. RESULTS: The frequency of the three genotypes were as follows: normal (-/-), 47.0%; heterozygote (+/-), 41.2%; and homozygote (+/+), 11.8% in neural tube defect group and (-/-), 25.6%; (+/-), 58.1%; (+/+), 16.3% in control group. The MTHFR gene variant was present 9.5% of those with meningomyelocele, 13.3% of their mothers 10% of their fathers, and 10.3% of siblings. CONCLUSION: 1)There is no increase of the frequency of MTHFR variant polymorphism in neural tube defect compared to control group. These observations indicate that while there maybe racial differences in the mutation frequency, expanded studies involving larger numbers of subjects are required. 2) To elucidate the role of various genetic factors influencing on homocysteine levels and vitamin nutrition, research on other genetic variants, such as folic acid and vitamin B12-related enzymes and receptors, are recommended,
Child ; DNA ; Fathers ; Folic Acid ; Genotype ; Heterozygote ; Homocysteine ; Homozygote ; Humans ; Infant ; Meningomyelocele ; Metabolism ; Methylenetetrahydrofolate Reductase (NADPH2)* ; Mothers ; Mutation Rate ; Neural Tube Defects* ; Neural Tube* ; Parents ; Parturition ; Polymerase Chain Reaction ; Pregnancy ; Prevalence* ; Seoul ; Siblings ; Vitamins