RESUMO
UNLABELLED: Arterial blood lactate is a reliable indicator of tissue oxygen debt and is of value in expressing the degree and prognosis of circulatory failure as a result of various diseases. Therefore, the practical issue of whether capillary lactate measurements might be of equal value was investigated in newborns. In total, 193 simultaneous measurements of capillary and arterial blood lactate concentrations were performed in 25 newborn babies with an indwelling umbilical arterial catheter. A strong linear correlation was found between capillary and arterial lactate concentration (Lcap = 1.02 Lart + 0.04; r = 0.98; p < 0.001). The mean difference was -0.08 mmol/l and the limits of agreement (+/- 2 SD) were +/- 0.69 mmol/l (-0.77 to 0.61 mmol/l). CONCLUSION: Our data show that capillary blood lactate measurements in newborn babies yield lactate concentrations equivalent to arterial measurements over a large concentration range.
Assuntos
Capilares/química , Isquemia/diagnóstico , Lactatos/sangue , Artérias Umbilicais/química , Biomarcadores/sangue , Feminino , Humanos , Hipóxia/sangue , Recém-Nascido , Unidades de Terapia Intensiva Neonatal , Isquemia/sangue , Lactatos/análise , Ácido Láctico/análise , Ácido Láctico/sangue , Masculino , Estudos Prospectivos , Estudos de Amostragem , Sensibilidade e Especificidade , Índice de Gravidade de DoençaRESUMO
The Wolf-Hirschhorn syndrome (WHS) is characterized by severe pre- and postnatal growth retardation, specific pattern of dysmorphisms, and severe developmental delay. These clinical findings are the result of a deletion within the short arm of chromosome 4. Most cases occur de novo and are of paternal origin. Cases due to a balanced translocation are mostly of maternal origin and the deletion of distal 4p, including the WHS critical region, is often combined with a duplication of the other chromosomal segment involved in the rearrangement. Here, we report on a newborn female infant with WHS and pure tertiary monosomy due to a 3:1 segregation of a balanced maternal 4;15 translocation. In this context, importance of fluorescence in situ hybridization (FISH) with specific probes to determine the exact breakpoints in unbalanced chromosomal rearrangements with breakpoints localized around known microdeletion syndromes is emphasized.