ABSTRACT
Prior to the advent of expanded newborn screening, sudden and unexplained death was often the first and only symptom of medium-chain acyl-CoA dehydrogenase deficiency (MCADD). With the use of tandem mass spectrometry, infants can now be identified and treated before a life threatening metabolic decompensation occurs. Newborn screening has also been shown to detect previously undiagnosed maternal inborn errors of metabolism. We have now diagnosed two women with MCADD following the identification of low free carnitine in their newborns. While one of the women reported prior symptoms of fasting intolerance, neither had a history of metabolic decompensation or other symptoms consistent with a fatty acid oxidation disorder. These cases illustrate the importance of including urine organic acid analysis and an acylcarnitine profile as part of the confirmatory testing algorithm for mothers when low free carnitine is identified in their infants.
Subject(s)
Lipid Metabolism, Inborn Errors , Neonatal Screening , Acyl-CoA Dehydrogenase/deficiency , Acyl-CoA Dehydrogenase/genetics , Carnitine/blood , Carnitine/urine , Female , Homozygote , Humans , Infant, Newborn , Lipid Metabolism, Inborn Errors/diagnosis , Lipid Metabolism, Inborn Errors/diet therapy , Lipid Metabolism, Inborn Errors/genetics , Mutation/genetics , Phenotype , Tandem Mass SpectrometryABSTRACT
Maternal and fetal blood gas values were studied in 90 selected mothers of comparable age, weight, duration of pregnancy and hematocrit values undergoing cesarean section under balanced general anesthesia in four differing clinical situations: elective with and without placental dysfunction, and emergency with and without fetal distress in apparently normal mothers. Pre-induction (Fi O2 0.21) and pre-delivery (Fi O2 0.60) maternal blood gas analysis, along with umbilical cord blood gas analysis were performed in all cases. Apgar scoring was carried out at one minute and three minutes and correlated with the blood gas values. Out of the 90 cases studied, 36 neonates (40%) showed good apgar scores of greater than seven at one minute and three minutes and correlated well with maternal blood gas values which were within normal ranges. Of the remaining 54 cases (60%) with similar mean maternal gas values the neonates showed an apgar score of less than seven in the first minute. The score improved in three minutes in 35 of them (66%), and umbilical cord blood gas values showed a low pH (umbilical vein 7.22 +/- 0.02 units, umbilical arterial 7.21 +/- 0.01 units) but satisfactory pO2 (umbilical vein 39.4 +/- 1.9 torr, umbilical arterial 2.5 +/- 1.3 torr).(ABSTRACT TRUNCATED AT 250 WORDS)
Subject(s)
Anesthesia, General , Anesthesia, Obstetrical , Cesarean Section , Fetal Blood/metabolism , Oxygen/blood , Apgar Score , Blood Gas Analysis , Female , Humans , Maternal-Fetal Exchange , PregnancyABSTRACT
El virus de Epstein Barr (VEB) es el agente etiológico habitual de la mononucleosis infecciosa clásica. En este artículo recogeremos los resultados de dos ensayos utilizados en nuestro laboratorio para el diagnóstico serológico de la mononucleosis infecciosa producida por el VEB (Clearview IM y Enzywell Epstein Barr VCA IgM) junto a los de dos ensayos adicionales (Enzywell Epstein Barr EA IgG y Enzywell Epstein Barr EBNA IgG) al efecto de valorar sus ventajas relativas en el diagnóstico de la mononucleosis. La importancia del diagnóstico estriba en sus potenciales complicaciones en el paciente, que podrían llegar a provocar su muerte (AU)