Assuntos
Traumatismos do Nascimento/diagnóstico , Traumatismos do Nascimento/etiologia , Fraturas Expostas/diagnóstico , Fraturas Expostas/etiologia , Síndrome dos Cabelos Torcidos/diagnóstico , Osso Occipital/lesões , Osso Parietal/lesões , Fraturas Cranianas/diagnóstico , Fraturas Cranianas/etiologia , Cesárea , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/etiologia , Eletroencefalografia , Seguimentos , Humanos , Imageamento Tridimensional , Lactente , Recém-Nascido , Masculino , Exame Neurológico , Osso Occipital/diagnóstico por imagem , Osso Parietal/diagnóstico por imagem , Tomografia Computadorizada por Raios XRESUMO
Cultured human skin fibroblasts were incubated in the presence of [14C]arachidonic acid (50 microM; 1 m Ci/mmol) and the divalent cation ionophore A23187 at 37 degrees C for 60 min. The metabolites formed were extracted from the cell-free medium in diethyl ether, separated by thin layer chromatography and identified unequivocally by GC-MS. The distribution of the arachidonic acid metabolites as estimated from the recovered radioactivity showed as major product prostaglandin E2 (26%). Minor amounts of other prostaglandins, i.e., 6-oxo-prostaglandin F1 alpha (1%), prostaglandin F2 alpha (1%), prostaglandin D2 (0.5%) and prostaglandin A2 (1%) were also present. In addition to the prostaglandins, monohydroxy fatty acids (4.5%) were also detected. This fraction contained 33% 12-hydroxy-5,8,10-heptadecatrienoic acid (HHT), 22% 11-hydroxy-5,8,11,14-eicosatetraenoic acid (11-HETE) and 31% 15-hydroxy-5,8,11,13-eicosatetraenoic acid (15-HETE). Lipid extracts of the cells did not show any detectable amount of the monohydroxy fatty acids, indicating that they are not incorporated metabolically in the cellular lipids. The monohydroxy fatty acids originate mainly from the exogenously added arachidonic acid as evidenced by the 2H/H ratio (30:1) from experiments with octadeuterated arachidonic acid [( 2H8]arachidonic acid). Indomethacin inhibited the formation of all prostaglandins, HHT and 11-HETE; moreover, eicosatetraynoic acid (also blocked the formation of 15-HETE. From these results, it can be concluded that in human skin fibroblasts prostaglandin E2 is the major product of the cycloxygenase pathway, while 15-HETE is the main lipoxygenase product.
Assuntos
Ácidos Araquidônicos/metabolismo , Lipoxigenase/metabolismo , Pele/metabolismo , Ácido Araquidônico , Células Cultivadas , Humanos , Hidroxiácidos/metabolismo , Prostaglandinas/metabolismoRESUMO
OBJECTIVE: To investigate if the factor V Leiden mutation (F-V-LM) and/or the prothrombin gene G 20210 A variant (P-G20210A-V) are risk factors for acute stroke in Austrian children. PATIENTS: 33 children with acute ischemic stroke documented by computer tomography and/or magnetic resonance imaging of the brain were enrolled in an open multicenter survey. RESULTS: 6/33 children had F-V-LM (5 heterozygous, 1 homozygous). This represents 18% (95% CI: 6.7-39.9%) of our pediatric stroke population and thus exceeds the expected prevalence in the Austrian population of 4,6% (Fischer's exact test, p = 0.01). F-V-LM was not found in 11 children with neonatal stroke but in 6/22 children with stroke after the neonatal period. 5/6 children with F-V-LM had an underlying disorder that is a risk factor for stroke in children. The P-G20210A-V was detected in 1/26 (3.85%; 95% CI: 0.1-21.4%) patients. Comparison of the prevalence of P-G20210A-V in our study with that in the general population of Austria of 1% revealed no statistical significance (Fischer's exact test, p = 0.38). CONCLUSION: Our data suggest that the F-V-LM is a risk factor for acute stroke in Austrian children beyond the neonatal period. The P-G20210A-V apparently does not represent a risk factor for stroke in Austrian children.
Assuntos
Isquemia Encefálica/genética , Fator V/genética , Protrombina/genética , Sequências Reguladoras de Ácido Nucleico/genética , Trombofilia/genética , Resistência à Proteína C Ativada/epidemiologia , Resistência à Proteína C Ativada/genética , Áustria/epidemiologia , Isquemia Encefálica/epidemiologia , Criança , Pré-Escolar , Feminino , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Humanos , Lactente , Recém-Nascido , Masculino , Fatores de Risco , Trombofilia/epidemiologiaRESUMO
The molecular-cytogenetic characterization of a de novo pure partial trisomy 10(q24.33-qter) is described. This report provides information about the postnatal phenotype. The clinical findings observed in this case support the conclusion that the more severe disease related genes are located between 10q24.1 and q24.33.
Assuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos Par 10 , Trissomia , Citogenética , Feminino , Humanos , Lactente , FenótipoRESUMO
During the ten-year period 1983-1992 40 children (16 girls and 24 boys) were treated for pyogenic meningitis caused by Haemophilus influenzae type b (Hib). The incidence was 1 case per year out of 5500 children younger than 6 years of age. The youngest child was 5.5 months old, 8 children (20%) were younger than 12 months. The highest incidence was during the second year of life (16 patients). The oldest patient was 11.5 years old. The course of Hib meningitis varied. The disease ran a fulminant course in 10 children. In 9 patients the symptoms evolved more gradually over a period of more than 48 hours, whereby 4 of these patients were only slightly ill on admission. Treatment until 1987 consisted of a combination of ampicillin and chloramphenicol, thereafter cetriaxon and ampicillin were used. Two patients died. One child was left with devastating handicaps and 5 children suffer from minor, but persisting sequelae (seizure disorder, delay in psychomotor development, attention deficit hyperactivity disorder, learning problems, speech delay). Transient disorders were found in 8 patients (EEG abnormalities, delay in psychomotor development, transient hearing problems). Severe hearing loss was seen in only one patient. 24 children (60% of all cases) recovered without any sequelae. Our results, in accordance with the literature, show that in spite of prompt availability of medical assistance, potent antibodies and a high standard of hospital care, the mortality and morbidity following Hib meningitis are still unacceptably high. Hence, we emphasize the need to eliminate Hib infection by immunization programmes.
Assuntos
Meningite por Haemophilus/epidemiologia , Ampicilina/administração & dosagem , Dano Encefálico Crônico/epidemiologia , Dano Encefálico Crônico/etiologia , Ceftriaxona/administração & dosagem , Criança , Pré-Escolar , Cloranfenicol/administração & dosagem , Estudos Transversais , Quimioterapia Combinada/uso terapêutico , Feminino , Seguimentos , Humanos , Incidência , Lactente , Masculino , Meningite por Haemophilus/complicações , Meningite por Haemophilus/tratamento farmacológico , Exame NeurológicoRESUMO
BACKGROUND: Breath hydrogen (H2) analysis has been recommended for the differential diagnosis between necrotizing enterocolitis and transient feeding intolerance. METHODS: We performed 360 breath H2 analyses in 32 unselected premature babies by use of an electrochemical method. RESULTS: All babies on oral feedings excreted H2. The concentration of H2 in expired air was extremely variable and often high even in well premature babies. Antibiotic medication (other than penicillin G alone) inhibited breath hydrogen excretion. CONCLUSIONS: Breath hydrogen analysis can be used as a diagnostic tool for necrotizing enterocolitis if performed in a symptomatic child on oral feedings prior to the initiation of antibiotic therapy.