RESUMO
PURPOSE: Vertigo and dizziness are not common complaints in childhood, but are present more often than formerly thought. A detailed interview and otoneurological examination are important for reaching a specific diagnosis and treatment. The purpose of our study was to obtain our own etiological, clinical and diagnostic statistics, and to review the major related pathologies. METHODS: We investigated eighty-five children who visited Dankook University Hospital with a chief complaint of vertigo. Presenting symptoms, the result of diagnostic tests, and etiologic diagnoses were evaluated. RESULTS: Benign paroxysmal vertigo in childhood was the most common etiology of childhood vertigo accounting for about 38.8%, and migrainous vertigo and post-traumatic vertigo were present in 17.6% and 12.9% respectively. In vestibular function testings, electronystagmography and rotating chair test were abnormal in 11.2% and 21.2%, and the score of sensory organization test in posturography was lower than 50 in 44.4%. Other clinical diagnostic tests were informative for elucidation of individual etiologies. CONCLUSION: Benign paroxysmal vertigo in childhood and migrainous vertigo were the most common etiologies in childhood vertigo, with the former more common in under 12 years and the latter more common in over 12 years. Vestibular function tests were not so informative in diagnostic approach of childhood vertigo.
Assuntos
Criança , Humanos , Diagnóstico , Testes Diagnósticos de Rotina , Tontura , Eletronistagmografia , Patologia , Vertigem , Testes de Função VestibularRESUMO
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.
Assuntos
Humanos , Recém-Nascido , Bilirrubina , Encéfalo , Tronco Encefálico , Paralisia Cerebral , Seguimentos , Audição , Hiperbilirrubinemia , Icterícia , Kernicterus , Fototerapia , Fatores de RiscoRESUMO
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.
Assuntos
Criança , Humanos , Lactente , Masculino , Cromatografia Líquida , Homocisteína , Hiper-Homocisteinemia , Meningomielocele , Metabolismo , Metilenotetra-Hidrofolato Redutase (NADPH2) , Defeitos do Tubo Neural , Tubo Neural , Pais , Parto , PlasmaRESUMO
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,
Assuntos
Criança , Humanos , Lactente , Gravidez , DNA , Pai , Ácido Fólico , Genótipo , Heterozigoto , Homocisteína , Homozigoto , Meningomielocele , Metabolismo , Metilenotetra-Hidrofolato Redutase (NADPH2) , Mães , Taxa de Mutação , Defeitos do Tubo Neural , Tubo Neural , Pais , Parto , Reação em Cadeia da Polimerase , Prevalência , Seul , Irmãos , VitaminasRESUMO
PURPOSE: Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is an autosomal recessive disoder of beta oxidation of fatty acids and characterized by episodic hypoglycemia, vomiting, convulsion, encephalopathy, apnea, and sudden death related to fasting or infection resembling Reye syndrome or sudden infant death syndrome. In acute stage, mortality rate is very high and survivors have significant risk of developmental disability and chronic somatic illness. However, the high mortality and morbidity can be totally prevented by appropriate dietary management on the basis of early and accurate diagnosis. Recently, a single point mutation (A985G) in the MCAD gene has been described that accounts for most of MCAD deficiency. The prevalence of MCAD deficiency shows marked racial differences. And population-based DNA screening for this potentially fatal disorder might be justified in countries with high frequency of the mutation. The prevalence of A985G mutation in the MCAD gene was studied in neonates using Guthrie cards for neonatal screening. METHODS: Dried blood spots on Guthrie cards originally used for neonatal screening programs obtained from 500 live newborn babies born in a private obstetric clinic or Seoul Red Cross Hospital in Seoul during the period from Jan. 1, 1995 to Jul. 31, 1995 were collected. DNA was extracted from the dried blood spots, and a segment of the MCAD gene was amplified from the DNA using polymerase chain reaction technique. The PCR products were electrophoresed on a polyacrylamide gel after treatment of a restriction enzyme, NcoI. And the restriction pattern was analyzed with ethidium bromide staining of the gel. RESULTS: The PCR was successful with all DNAs from Guthrie cards. And the A to G transition at nucleotide position 985 in the MCAD gene was not demonstrated in any of the specimen. Conlusions : 1) The frequency of A985G mutation in the MCAD gene is extremely low in Korean population. 2) The methodology used in this study can be applied to population-based molecular genetic studies for other hereditary diseases.
Assuntos
Humanos , Recém-Nascido , Acil-CoA Desidrogenase , Apneia , Morte Súbita , Deficiências do Desenvolvimento , Diagnóstico , DNA , Etídio , Jejum , Ácidos Graxos , Doenças Genéticas Inatas , Genética Populacional , Hipoglicemia , Programas de Rastreamento , Biologia Molecular , Mortalidade , Triagem Neonatal , Mutação Puntual , Reação em Cadeia da Polimerase , Prevalência , Cruz Vermelha , Síndrome de Reye , Convulsões , Seul , Morte Súbita do Lactente , Sobreviventes , VômitoRESUMO
PURPOSE: Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is an autosomal recessive disoder of beta oxidation of fatty acids and characterized by episodic hypoglycemia, vomiting, convulsion, encephalopathy, apnea, and sudden death related to fasting or infection resembling Reye syndrome or sudden infant death syndrome. In acute stage, mortality rate is very high and survivors have significant risk of developmental disability and chronic somatic illness. However, the high mortality and morbidity can be totally prevented by appropriate dietary management on the basis of early and accurate diagnosis. Recently, a single point mutation (A985G) in the MCAD gene has been described that accounts for most of MCAD deficiency. The prevalence of MCAD deficiency shows marked racial differences. And population-based DNA screening for this potentially fatal disorder might be justified in countries with high frequency of the mutation. The prevalence of A985G mutation in the MCAD gene was studied in neonates using Guthrie cards for neonatal screening. METHODS: Dried blood spots on Guthrie cards originally used for neonatal screening programs obtained from 500 live newborn babies born in a private obstetric clinic or Seoul Red Cross Hospital in Seoul during the period from Jan. 1, 1995 to Jul. 31, 1995 were collected. DNA was extracted from the dried blood spots, and a segment of the MCAD gene was amplified from the DNA using polymerase chain reaction technique. The PCR products were electrophoresed on a polyacrylamide gel after treatment of a restriction enzyme, NcoI. And the restriction pattern was analyzed with ethidium bromide staining of the gel. RESULTS: The PCR was successful with all DNAs from Guthrie cards. And the A to G transition at nucleotide position 985 in the MCAD gene was not demonstrated in any of the specimen. Conlusions : 1) The frequency of A985G mutation in the MCAD gene is extremely low in Korean population. 2) The methodology used in this study can be applied to population-based molecular genetic studies for other hereditary diseases.