RESUMO
Neonatal alloimmune thrombocytopenia (NAIT) is a rare but clinically important etiology of intracranial hemorrhage. There have been no reported cases of intracranial hemorrhage caused by anti-group A or anti-group B antibodies. A Japanese boy weighing 1550 g was born at 37 weeks. He suffered from refractory thrombocytopenia and developed severe intracranial hemorrhage on his second day. Despite repeated platelet, red-cell and fresh-frozen-plasma transfusions, he died at day 10 of life. Serological studies and genotyping of the patient and his parents were performed. There were no incompatible genotypes of platelet antigens between the patient and the mother. Serological studies revealed that the mother had extremely high-titer anti-group A immunoglobulin G(2) (4096-fold) that reacted strongly with the father's platelets. The reaction against the father's platelets disappeared when her serum was adsorbed with group A red blood cells. Maternal anti-group A antibody was associated with NAIT and severe bilateral intracranial hemorrhage.
Assuntos
Sistema ABO de Grupos Sanguíneos , Antígenos de Plaquetas Humanas/sangue , Hemorragias Intracranianas/diagnóstico , Isoanticorpos/sangue , Trombocitopenia Neonatal Aloimune/diagnóstico , Evolução Fatal , Humanos , Imunoglobulina G/sangue , Recém-Nascido , Hemorragias Intracranianas/sangue , Masculino , Trombocitopenia Neonatal Aloimune/sangueRESUMO
Of 27,000 infants whose sleep-wake characteristics were studied under the age of 6 months, 38 died unexpectedly 2-12 weeks after the sleep recording in a pediatric sleep laboratory. Of these infants, 26 died of sudden infant death syndrome (SIDS), and 12 of definitely identified causes. The frequency and duration of sleep apneas were analysed. Sleep recordings and brainstem histopathology were studied to elucidate the possible relationship between sleep apnea and neuropathological changes within the arousal system. Immunohistochemical analyses were conducted using tryptophan hydroxylase (TrypH), a serotonin synthesizing enzyme, and growth-associated phosphoprotein 43 (GAP43), a marker of synaptic plasticity. The terminal-deoxynucleotidyl transferase-mediated dUTP nick end labeling (TUNEL) method was used for apoptosis. The pathological and physiological data were correlated for each infant. In the SIDS victims, statistically significant positive correlations were seen between the number of TrypH-positive neurons in the dorsal raphe nucleus of the midbrain and the duration of central apneas (p = 0.03), between the number of TUNEL-positive glial cells in the pedunculopontine tegmental nucleus (PPTN) and the average number of spines in GAP43-positive neurons in the PPTN (p = 0.04). These findings in the dorsal raphe nucleus of the midbrain and PPTN, that play important roles in the arousal pathway suggest a possible link between changes in arousal and SIDS.
Assuntos
Apoptose , Neuroglia/metabolismo , Apneia do Sono Tipo Central/metabolismo , Morte Súbita do Lactente/patologia , Estudos de Casos e Controles , Feminino , Medicina Legal , Proteína GAP-43/metabolismo , Humanos , Imuno-Histoquímica , Marcação In Situ das Extremidades Cortadas , Lactente , Recém-Nascido , Masculino , Neurônios/metabolismo , Núcleo Tegmental Pedunculopontino/metabolismo , Polissonografia , Núcleos da Rafe/metabolismo , Triptofano Hidroxilase/metabolismoRESUMO
Inosine triphosphate pyrophosphohydrolase (ITPase) deficiency is characterized by abnormal accumulation of inosine triphosphate. We describe the first Japanese case with ITPase deficiency and demonstrate that the deficiency of ITPase activity is not only found in erythrocytes but also in white blood cells.
Assuntos
Leucócitos/enzimologia , Erros Inatos do Metabolismo/metabolismo , Pirofosfatases/deficiência , Adulto , Eritrócitos/enzimologia , Feminino , Humanos , Inosina Trifosfato/metabolismo , Japão , Inosina TrifosfataseRESUMO
We performed allopurinol challenge tests to evaluate the metabolic state of a citrullinaemic patient who received a living-relative donor liver transplant. Before transplantation, large amounts of orotic acid and orotidine were excreted during the challenge test. Following transplantation, excretion of these compounds in response to allopurinol was normalised. The challenge test was a safe and useful method to evaluate the metabolic state of the patient.
Assuntos
Alopurinol , Antimetabólitos , Citrulina/sangue , Citrulinemia/diagnóstico , Citrulinemia/cirurgia , Transplante de Fígado/fisiologia , Criança , Cromatografia Líquida de Alta Pressão , Feminino , Humanos , Doadores VivosRESUMO
By definition, sudden infant death syndrome (SIDS) requires diagnosis through exclusion by conducting an autopsy. To obtain a reliable diagnosis of this disease, an autopsy is essential. However, the frequency with which autopsies are conducted in Japan is not sufficient to meet the need associated with the diagnosis of SIDS. To improve this frequency, various public policies, such as nationwide implementation of the administrative autopsy system (medical examiner system), the application of the practice of autopsy approved by families, and legally required autopsies, are being considered; but none has been put into practice. On the other hand, attention has been called to the fact that the Law on postmortem examination and corpse preservation, which was instituted at the end of the Second World War, requires updating. In the current report, it is proposed that the following be added to Article 8, item 3 of this Law: "the Metropolitan or Prefectural Governor must insist that an autopsy be conducted on all cases of a sudden and unexpected death of an infant to investigate the cause of this death." At present, the annual incidence of SIDS in Japan is reported to be 500. To put the above-recommended legal requirement into practice, the estimated annual addition to the budget, if conducted as approved or an administrative autopsy, will be in the order of 150,000-500,000 dollar, which is within the prescribed limits for an appropriation.
Assuntos
Autopsia/legislação & jurisprudência , Medicina Legal/legislação & jurisprudência , Programas Nacionais de Saúde/legislação & jurisprudência , Autopsia/economia , Cadáver , Medicina Legal/economia , Humanos , Lactente , Mortalidade Infantil , Japão , Programas Obrigatórios/legislação & jurisprudência , Preservação Biológica , Morte Súbita do Lactente/diagnósticoRESUMO
Nitric oxide (NO) produced in the airways can be either detrimental or protective to the host. To investigate the role of NO in the pathogenesis of exercise-induced bronchoconstriction (EIB), we measured exhaled NO (ENO) after exercise challenge in 39 asthmatic and six normal children. FEV(1) and ENO were measured before and at 0, 5, 10, and 15 min after exercise performed on a treadmill for 6 min. EIB was defined as a decrease in FEV(1) of more than 15% after the exercise. Normal children (control group) did not have EIB. Twenty-one patients with asthma had EIB (EIB group) whereas the remaining 18 patients did not (non-EIB group). The baseline ENO value was significantly higher in the asthmatic children than in the normal children, and there was a positive correlation between the maximal percent decrease in FEV(1) and the baseline ENO value (r = 0.501, p = 0.012). At the end of the exercise, ENO had decreased in all the subjects. In the non-EIB and control groups, ENO rebounded to above the baseline at 5 min after the exercise and thereafter. In contrast, ENO remained at a decreased level in the EIB group. The change in ENO did not correlate with the change in minute ventilation, and beta-agonist inhalation at the peak of EIB that accelerated the recovery of FEV(1) did not affect the depressed level of ENO, demonstrating that the reduction of ENO is not a simple consequence of increased ventilation nor airway obstruction. Among the EIB group, steroid-treated patients showed sooner recovery in ENO after the exercise than steroid-naive patients. Our study suggests that NO production in response to exercise may be impaired in patients with EIB, and that ENO represents not only airway inflammation but also a protective function of NO in EIB.
Assuntos
Asma Induzida por Exercício/metabolismo , Testes Respiratórios , Óxido Nítrico/análise , Óxido Nítrico/fisiologia , Administração por Inalação , Adolescente , Agonistas Adrenérgicos beta/farmacologia , Agonistas Adrenérgicos beta/uso terapêutico , Análise de Variância , Anti-Inflamatórios/uso terapêutico , Asma Induzida por Exercício/diagnóstico , Asma Induzida por Exercício/tratamento farmacológico , Asma Induzida por Exercício/fisiopatologia , Broncodilatadores/farmacologia , Broncodilatadores/uso terapêutico , Estudos de Casos e Controles , Criança , Quimioterapia Combinada , Teste de Esforço , Feminino , Volume Expiratório Forçado/efeitos dos fármacos , Frequência Cardíaca/efeitos dos fármacos , Humanos , Masculino , Procaterol/farmacologia , Procaterol/uso terapêutico , Esteroides , Fatores de TempoRESUMO
The appearance of hereditary coproporphyria (HCP) before puberty is very rare, and all reported cases of early-onset HCP have been in the homozygous or the compound heterozygous state. Some have been identified as harderoporphyria, which is a rare erythropoietic variant form of HCP. These conditions can be differentiated by molecular analysis because the gene abnormality responsible for harderoporphyria seems to be unique (K404E). Early-onset HCP, not harderoporphyria, is reported with a gene mutation in the heterozygous state and male pseudohermaphrodism. It was shown that adrenal gland hypofunction resulted in male pseudohermaphrodism. This case demonstrates the possibility that abnormalities of steroid metabolism influence porphyria.
Assuntos
Transtornos do Desenvolvimento Sexual/complicações , Mutação , Porfirias Hepáticas/genética , Insuficiência Adrenal/complicações , Insuficiência Adrenal/diagnóstico , Hormônio Adrenocorticotrópico/sangue , Sequência de Bases , Gonadotropina Coriônica , Coproporfirinas/análise , DNA/química , Desoxirribonuclease HpaII/metabolismo , Éxons , Fezes/química , Heterozigoto , Humanos , Hidrocortisona/sangue , Recém-Nascido , Cariotipagem , Masculino , Dados de Sequência Molecular , Linhagem , Reação em Cadeia da Polimerase , Porfirias Hepáticas/complicações , Análise de Sequência de DNA , Testosterona/sangueRESUMO
We compared the breathing characteristics of 40 infants who subsequently died of sudden infant death syndrome (SIDS) with those of 607 healthy infants matched for sex and age. The infants were between 2 and 19 wk old at the time of recording. Compared with the control group, the infants who died of SIDS experienced significantly more frequent episodes of obstructive and mixed sleep apnea. The duration of the apneic episodes did not exceed 15 s. Moreover, the SIDS group had a greater proportion of infants with obstructive and mixed apneic episodes than did the control group. In both groups, the frequency of episodes among male infants with apnea was greater than that among female infants. After the age of 9 wk, the proportion of male infants with episodes of obstructive apnea was greater in the SIDS group than in the control group. The frequency of apneic episodes decreased with age. The rate of decrease was significantly greater in the control subjects than in the SIDS group. This finding was made mainly in male infants. The present study provides further indirect evidence for a slower maturation of respiratory control in some infants who ultimately die of SIDS.
Assuntos
Síndromes da Apneia do Sono/fisiopatologia , Morte Súbita do Lactente , Feminino , Humanos , Lactente , MasculinoRESUMO
BACKGROUND: This study was performed to determine whether a combined therapy of nitric oxide (NO) inhalation and nitric oxide synthase (NOS) inhibitor is effective in experimental animals with endotoxin-induced refractive hypotension accompanied by pulmonary hypertension. METHODS: Escherichia coli lipopolysaccharide (1 mg/kg) was administered to 10 newborn piglets to induce endotoxemia. The experiment then began 60 min later, when the systemic arterial pressure dropped. The inhalation of 20 p.p.m. NO at 60 and 120 min of endotoxemia created a control group. Another group was also administered N w-nitro-L-arginine (L-NNA; 5 mg) after the first NO inhalation at 60 min of endotoxemia (the L-NNA group). Pulmonary arterial pressure, systemic arterial pressure and cardiac output were measured and compared among the groups. RESULTS: Three of the 5 piglets in the control group died of hypotensive shock, while in the L-NNA group the systemic arterial pressure recovered to pre-endotoxin administration levels. The L-NNA group produced a further increase in pulmonary arterial pressure against which NO inhalation was effective. CONCLUSION: Nitric oxide inhalation alone carries a potential risk of further lowering systemic arterial pressure in a piglet with hypotension induced by endotoxin, whereas the combined therapy resulted in the recovery of the blood pressure to pre-endotoxin levels. The combined therapy was simultaneously effective against pulmonary hypertension.
Assuntos
Hipertensão Pulmonar/complicações , Óxido Nítrico Sintase/antagonistas & inibidores , Óxido Nítrico/uso terapêutico , Terapia Respiratória , Choque Séptico/tratamento farmacológico , Animais , Animais Recém-Nascidos , Modelos Animais de Doenças , Quimioterapia Combinada , Endotoxemia/tratamento farmacológico , Hemodinâmica/efeitos dos fármacos , Hipotensão/tratamento farmacológico , SuínosAssuntos
Ritmo Circadiano/fisiologia , Doença da Deficiência de Ornitina Carbomoiltransferase/fisiopatologia , Ácido Orótico/urina , Pirimidinas/urina , Uracila/urina , Adulto , Criança , Pré-Escolar , Ritmo Circadiano/genética , Feminino , Humanos , Lactente , Masculino , Doença da Deficiência de Ornitina Carbomoiltransferase/genéticaRESUMO
Lipocortin 1 (LC1) has been shown to increase in neuronal damage and act as a neuroprotectant and a neurotrophic factor. IL-1beta acts as a mediator of inflammation and has been reported as a potent inducer of various neurotrophic factors including nerve growth factor and fibroblast growth factor. In this study, we investigated the relationship between LC1 and IL-1beta in cultured rat astrocytes. Time-and dose-dependent experiments of IL-1beta on rat cortical astrocytes in culture revealed that the expression of LC1 mRNA was significantly augmented by IL-1beta at 8 h, 10 ng/ml. In addition, IL-1beta evoked an extracellular secretion of LC1 without its cytotoxic effects. The effect of IL-1beta was completely abolished when we treated cells with inhibitor of mitogen-activated protein kinases (MAPKs) (PD98059) (25 microM), phospholipase A(2) inhibitor mepacrine (30 microM) and protein synthesis inhibitor cycloheximide (CHX) (10 microg/ml). This suggests that induction of LC1 by IL-1beta is through a MAPKs and phospholipaseA(2) pathway and requires protein synthesis. These results indicate that IL-1beta released in the central nervous system (CNS) injury can stimulate the transcription of the LC1 gene. Subsequent synthesis and release of LC1 may provide trophic support to neurons and modulate the action of IL-1beta in brain damage.
Assuntos
Anexina A1/genética , Astrócitos/metabolismo , Lesões Encefálicas/metabolismo , Sobrevivência Celular/fisiologia , Encefalite/metabolismo , Interleucina-1/metabolismo , Degeneração Neural/metabolismo , Animais , Anticorpos/farmacologia , Astrócitos/citologia , Astrócitos/efeitos dos fármacos , Lesões Encefálicas/imunologia , Lesões Encefálicas/fisiopatologia , Sobrevivência Celular/efeitos dos fármacos , Células Cultivadas/citologia , Células Cultivadas/efeitos dos fármacos , Células Cultivadas/metabolismo , Córtex Cerebral/imunologia , Córtex Cerebral/metabolismo , Córtex Cerebral/fisiopatologia , Cicloeximida/farmacologia , Relação Dose-Resposta a Droga , Encefalite/fisiopatologia , Inibidores Enzimáticos/farmacologia , Feto , Interleucina-1/imunologia , Interleucina-1/farmacologia , Sistema de Sinalização das MAP Quinases/efeitos dos fármacos , Sistema de Sinalização das MAP Quinases/fisiologia , Degeneração Neural/fisiopatologia , Fármacos Neuroprotetores/farmacologia , Inibidores da Síntese de Proteínas/farmacologia , Quinacrina/farmacologia , RNA Mensageiro/efeitos dos fármacos , RNA Mensageiro/metabolismo , Ratos , Ratos Wistar , Fatores de TempoRESUMO
In brain slices from young (postnatal day (P) 10--15) rat somatosensory cortex, real-time neuronal intracellular Cl(-) concentration ([Cl(-)](i)) recordings were made by an optical technique measuring 6-methoxy-N-ethlquinolinium iodide (MEQ) fluorescence. Oxygen--glucose deprivation (in vitro model of ischemia) induced a long-lasting [Cl(-)](i) increase preceded by a rapid, transient [Cl(-)](i) decrease that could not be inhibited by blockers of Cl(-) pumps, Cl(-) channels, or Cl(-) antiporters, but was sensitive to cation-Cl(-) cotransporter inhibitors (bumetanide and furosemide). Use of low external Na(+) or high external K(+) revealed that the Na(+),K(+)-2Cl(-) cotransporter was inhibited by bumetanide and furosemide, whereas the K(+)-Cl(-) cotransporter was preferentially inhibited by furosemide under our experimental conditions. With a reduced inward driving force for Na(+) (reducing Na(+),K(+)-2Cl(-) cotransport), the transient [Cl(-)](i) decrease was only rarely induced by oxygen-glucose deprivation. In contrast, with a reduced outward driving force for K(+) (reducing K(+)-Cl(-) cotransport), the transient [Cl(-)](i) decrease still occurred. These results suggest that the transient [Cl(-)](i) decrease was primarily mediated by a rapid inhibition of the inwardly directed Na(+),K(+)-2Cl(-) cotransporter. Reverse transcriptase-polymerase chain reaction (RT-PCR) experiments suggested that the isoform involved is NKCC1. We hypothesize that the initial rapid Cl(-) efflux might effectively delay the irreversible Cl(-) influx that mediates neuronal injury.
Assuntos
Proteínas de Transporte/metabolismo , Cloretos/metabolismo , Potássio/metabolismo , Células Piramidais/metabolismo , Simportadores de Cloreto de Sódio-Potássio , Sódio/metabolismo , Córtex Somatossensorial/metabolismo , Animais , Proteínas de Transporte/efeitos dos fármacos , Hipóxia Celular/fisiologia , Corantes Fluorescentes/farmacocinética , Glucose/deficiência , Transporte de Íons/efeitos dos fármacos , Transporte de Íons/fisiologia , Células Piramidais/efeitos dos fármacos , Compostos de Quinolínio/farmacocinética , RNA Mensageiro/metabolismo , Ratos , Ratos Wistar , Córtex Somatossensorial/efeitos dos fármacosRESUMO
BACKGROUND: This is the first report about a prospective clinical investigation to study the efficacy and safety of nitric oxide (NO) inhalation in infants with persistent pulmonary hypertension of the newborn (PPHN) in Japan. METHODS: Patients in the present study had to meet the following entry criteria: (i) they had to be younger than 7 days of age; (ii) they had to have evidence of PPHN as defined by echocardiograph; (iii) they had to have severe systemic hypoxemia under mechanical ventilation at 100% oxygen supplementation; and (iv) they had to have a failure to respond to conventional therapies. Patients were excluded from this trial if they had any of the following: hypoplastic lung, structural cardiac lesions or severe multiple anomalies. RESULTS: Nitric oxide inhalation therapy was performed in 68 infants who had severe PPHN at 18 hospitals between May 1995 and May 1997. At birth, 21 of 68 infants (31%) weighed less than 1,500 g and 39 infants weighed more than 2,500 g. The diagnoses associated with PPHN were as follows: 27 infants had meconium aspiration syndrome, 15 infants had dry lung syndrome, nine infants had congenital diaphragmatic hernia, six infants had respiratory distress syndrome, three infants had pneumonia and eight infants had other diagnoses. The mean oxygenation index (OI) before NO inhalation therapy in 68 infants was 43.2; 55 infants (81%) had good responses. CONCLUSIONS: These results may be valuable for further randomized controlled and double-blind trials in Japan to evaluate whether NO inhalation therapy is more effective than conventional therapy in infants with severe PPHN.
Assuntos
Óxido Nítrico/administração & dosagem , Síndrome da Persistência do Padrão de Circulação Fetal/tratamento farmacológico , Administração por Inalação , Humanos , Recém-Nascido , Japão , Óxido Nítrico/efeitos adversos , Oxigênio/sangue , Estudos Prospectivos , Resultado do TratamentoRESUMO
The expression of human brain-derived neurotrophic factor (BDNF) was investigated in 16 primary human neuroblastomas with favorable biologies, 15 with unfavorable biologies, and in human neuroblastoma cell lines. We demonstrated higher expressions of human BDNF mRNA in neuroblastomas with unfavorable biologies and with N-myc amplification than in those with favorable biologies. For the first time we revealed the composition of splice variants of human BDNF mRNA and analyzed their expression in neuroblastomas by reverse transcription polymerase chain reaction (RT-PCR). Interestingly, human BDNF mRNA consisted of at least six isoforms, four isoforms resembling those of rat BDNF mRNA, a human-specific isoform and a new isoform. The expression of four isoforms were more prominent in tumors with unfavorable biologies than in those with favorable biologies (P<0.05). As previously we had reported, over 80% of the primary tumors expressed either the full-length form of BDNF receptor, TRKB, or a truncated form of TRKB lacking the tyrosine kinase domain. The full-length TRKB was predominantly detected in tumors with unfavorable biologies, and the truncated one in those with favorable biologies. These results suggest that an autocrine and/or paracrine mechanism involving BDNF may stimulate signal transduction via TRKB receptors rich in neuroblastomas with unfavorable biologies, resulting in an aberrant survival of tumor cells.
Assuntos
Fator Neurotrófico Derivado do Encéfalo/biossíntese , Neuroblastoma/metabolismo , RNA Mensageiro/metabolismo , Fatores Etários , Processamento Alternativo , Sequência de Aminoácidos , Animais , Sequência de Bases , DNA Complementar/metabolismo , Éxons , Humanos , Lactente , Recém-Nascido , Dados de Sequência Molecular , Isoformas de Proteínas , Proteínas Proto-Oncogênicas c-myc/biossíntese , Ratos , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Homologia de Sequência de Aminoácidos , Transdução de Sinais , Células Tumorais CultivadasRESUMO
BACKGROUND: In previous reports, the reference range for urinary pyrimidine was determined on the basis of a small number of samples, with data for only a few patients being reported. In the present study, we measured urinary pyrimidine compounds in 25 healthy newborns, 33 healthy infants, 130 healthy children and 166 healthy adults. In addition, we also analyzed urinary pyrimidine compounds in various patients with abnormal pyrimidine metabolism, such as congenital pyrimidine metabolism disorders and urea cycle disorders. METHODS: We analyzed urines by high-performance liquid chromatography with column switching. Analyses were performed with both a reverse-phase column and an anion-exchange column. The columns were connected by a column switch, with all systems being controlled automatically by a computerized system controller. RESULTS: The excretion of pyrimidine compounds in patients with abnormal pyrimidine metabolism (containing heterozygotes) was out of our reference ranges. CONCLUSIONS: These results suggest that urinary pyrimidine analysis is a useful index for the diagnosis of pyrimidine metabolism disorders, urea cycle disorders and these heterozygotes. Based on this large-group analysis of healthy individuals, we were able to determine the reference ranges of urinary orotic acid, dihydrouracil and uracil for each age group.
Assuntos
Recém-Nascido/urina , Erros Inatos do Metabolismo/urina , Pirimidinas/metabolismo , Pirimidinas/urina , Adolescente , Adulto , Criança , Pré-Escolar , Cromatografia Líquida , Humanos , Lactente , Erros Inatos do Metabolismo/metabolismo , Ácido Orótico/urina , Uracila/urinaRESUMO
There are few reports about developmental behavior relating to roll over among healthy infants. We assessed the relationship between the placed position on sleeping and altered sleeping position the next morning by roll over among healthy infants. A health check-up clinic distributed a total of 1626 questionnaires to parents whose infant's ages are 1.5 years (or 18 months) old. The age at the first roll over and the change in sleeping position the next morning after they started to roll over, were investigated. The mean age of roll over from the supine to the prone among infants who were placed mainly in the prone sleeping position, at least in the first week of life, was 4.0 months (S.D., 1.1). The mean age of roll over from the supine to the prone among infants who were placed mainly in the supine sleeping position during early neonatal life and thereafter was 4.4 months (S.D., 1.2). The age of the first roll over from supine to prone was significantly younger in infants who were placed mainly in the prone sleeping position during early neonatal life. Among 651 infants who had been placed supine, 34.7% were found prone by roll over the next morning. Among 211 infants who had been placed prone, 14.2% were found supine by roll over the next morning. The number of infants who rolled over from supine to prone position was statistically greater than those from prone to supine. It is likely that the healthy human infant tends to sleep in the prone rather than the supine position. The finding is especially important for the correct assessment of the position in which SIDS cases were found dead.
Assuntos
Decúbito Ventral , Sono , Decúbito Dorsal , Humanos , Lactente , Morte Súbita do Lactente , Inquéritos e QuestionáriosRESUMO
Our objective was to study the urinary levels of orotic acid in normal pregnancy and in pregnancy-induced hypertension. Such levels were measured using high-performance liquid chromatography with column-switching. The levels of urinary orotic acid (micromol/g creatinine) in normal pregnancy (n = 14) were 6.9 +/- 2.3 (first trimester), 10.1 +/- 2.4 (20 weeks) and 12.0 +/- 3.7 (30 weeks). In pregnancy-induced hypertension (n = 14), the corresponding levels were 6.5 +/- 1.7, 7.8 +/- 2.7 and 7.6 +/- 2.3, respectively. Normal pregnant subjects individually showed a significant elevation at 20 and 30 weeks of gestation as compared with those in the first trimester (p < 0.01). A high consumption of arginine in nitric oxide production during normal pregnancy may cause a physiological elevation of urinary orotic acid. The absence of an elevation in pregnancy-induced hypertension may be associated with a decrease in nitric oxide production.
Assuntos
Hipertensão/urina , Ácido Orótico/urina , Complicações Cardiovasculares na Gravidez/urina , Arginina/metabolismo , Feminino , Idade Gestacional , Humanos , Óxido Nítrico/metabolismo , Gravidez , Valores de ReferênciaRESUMO
We report the peculiar serial electroencephalographic (EEG) findings in a 7-year-old boy with glutaric aciduria type 1 during an episode of acute encephalopathy. The patient developed Reye-like syndrome triggered by cellulitis. Cranial magnetic resonance imaging demonstrated diffuse softening of cerebral hemisphere. The EEG on the day following onset of acute encephalopathy showed suppression burst pattern including continuous 14-15 Hz rhythmic waves at first. Then, periodic synchronous discharge appeared and lasted for about 40 minutes. Periodic synchronous discharge finally disappeared and nearly total electrocerebral silence continued. There have been no reports indicating such a change of EEG in a short period. The serial EEG changes probably reflect the process of electrical death of neurons in cerebral hemispheres.
Assuntos
Lesões Encefálicas/complicações , Encéfalo/fisiopatologia , Glutaratos/urina , Erros Inatos do Metabolismo Lipídico/complicações , Doença Aguda , Encéfalo/patologia , Lesões Encefálicas/fisiopatologia , Criança , Eletroencefalografia , Humanos , Erros Inatos do Metabolismo Lipídico/fisiopatologia , Erros Inatos do Metabolismo Lipídico/urina , Imageamento por Ressonância Magnética/métodos , MasculinoRESUMO
The importance of detecting heterozygosity for X-linked ornithine transcarbamylase deficiency is well known. Although the DNA analysis and the allopurinol loading tests are commonly used for this purpose, both methods require complicated procedures. In order to establish a simple test for detecting female heterozygotes, we examined the uracil and orotic acid in single-voided urine samples from 70 healthy women, and from 12 asymptomatic females with ornithine transcarbamylase deficiency. Based on the results of healthy women, we were able to determine a screening cut-off line of 11.9 micromol/mmol creatinine (mean +/- 1SD in logarithmic form) for uracil. Using this cut-off line, the sensitivity of OCT heterozygotes was 100%. We were also able to establish a second cut-off line of 28.9 micromol/mmol creatinine (mean +/- 3SD in logarithmic form) for diagnosis. Using this second cut-off line, the specificity of OCT heterozygotes was 100%. Our study has shown that the measurement of urinary uracil is a relatively simple and effective method for detecting female heterozygotes.
Assuntos
Triagem de Portadores Genéticos , Doença da Deficiência de Ornitina Carbomoiltransferase/diagnóstico , Uracila/urina , Feminino , Triagem de Portadores Genéticos/métodos , Humanos , Modelos Biológicos , Doença da Deficiência de Ornitina Carbomoiltransferase/genética , Doença da Deficiência de Ornitina Carbomoiltransferase/urina , Ácido Orótico/urina , Valores de ReferênciaRESUMO
STUDY OBJECTIVES: To collect normative data on the frequency of obstructive and mixed sleep apneas in healthy infants. STUDY DESIGN: 1100 infants were recorded during one night in a sleep laboratory. SETTING: the recordings were performed in an infant sleep laboratory. PATIENTS: The recordings of 1023 infants were used for analysis, the data of 77 infants being excluded because of poor recording quality. The infants were born full-term, were healthy at the time of study, had no history of apnea and were aged between 2 and 28 weeks. The polysomnographic recordings were analyzed visually and were subdivided according to the age of the subjects into 2-7 weeks, 8-11 weeks, 12-15 weeks, 16-19 weeks and 20-27 weeks of life. INTERVENTIONS: NA. MEASUREMENTS AND RESULTS: At 2-7 weeks of life, obstructive apneas (p=.013) and mixed apneas (p=.004) were significantly more frequent than at any other age group. At 8 to 11 weeks of life, obstructive apneas were significantly more frequent in boys than girls (p=.016). CONCLUSIONS: The present findings add to our knowledge of infants' respiratory characteristics during sleep.