Quality of life and adherence to treatment in early-treated Brazilian phenylketonuria pediatric patients

Early dietary treatment of phenylketonuria (PKU), an inborn error of phenylalanine (Phe) metabolism, results in normal cognitive development. Although health-related quality of life (HRQoL) of PKU patients has been reported as unaffected in high-income countries, there are scarce data concerning HRQoL and adherence to treatment of PKU children and adolescents from Brazil. The present study compared HRQoL scores in core dimensions of Brazilian early-treated PKU pediatric patients with those of a reference population, and explored possible relationships between adherence to treatment and HRQoL. Early-treated PKU pediatric patient HRQoL was evaluated by self- and parent-proxy reports of the Pediatric Quality of Life Inventory (PedsQL) core scales. Adherence to treatment was evaluated by median Phe levels and percentage of results within the therapeutic target range in two periods. Means for total and core scales scores of PedsQL self- and parent proxy-reports of PKU patients were significantly lower than their respective means for controls. Adequacy of median Phe concentrations and the mean percentage of values in the target range fell substantially from the first year of life to the last year of this study. There was no significant difference in mean total and core scale scores for self- and parent proxy-reports between patients with adequate and those with inadequate median Phe concentrations. The harmful consequences for intellectual capacity caused by poor adherence to dietary treatment could explain the observed decrease in all HRQoL scales, especially in school functioning. Healthcare system and financial difficulties may also have influenced negatively all HRQoL dimensions.

Analysis of acylcarnitine profiles in umbilical cord blood and during the early neonatal period by electrospray ionization tandem mass spectrometry

Acylcarnitine profiling by electrospray ionization tandem mass spectrometry (ESI-MS/MS) is a potent tool for the diagnosis and screening of fatty acid oxidation and organic acid disorders. Few studies have analyzed free carnitine and acylcarnitines in dried blood spots (DBS) of umbilical cord blood (CB) and the postnatal changes in the concentrations of these analytes. We have investigated these metabolites in healthy exclusively breastfed neonates and examined possible effects of birth weight and gestational age. DBS of CB were collected from 162 adequate for gestational age neonates. Paired DBS of heel-prick blood were collected 4-8 days after birth from 106 of these neonates, the majority exclusively breastfed. Methanol extracts of DBS with deuterium-labeled internal standards were derivatized before analysis by ESI-MS/MS. Most of the analytes were measured using a full-scan method. The levels of the major long-chain acylcarnitines, palmitoylcarnitine, stearoylcarnitine, and oleoylcarnitine, increased by 27, 12, and 109%, respectively, in the first week of life. Free carnitine and acetylcarnitine had a modest increase: 8 and 11%, respectively. Propionylcarnitine presented a different behavior, decreasing 9% during the period. The correlations between birth weight or gestational age and the concentrations of the analytes in DBS were weak (r £ 0.20) or nonsignificant. Adaptation to breast milk as the sole source of nutrients can explain the increase of these metabolites along the early neonatal period. Acylcarnitine profiling in CB should have a role in the early detection of metabolic disorders in high-risk neonates.

Caracterizaçao e perfil de sensibilidade de 45 amostras de Staphylococcus coagulase negativa de origem hospitalar / Sensitivity and characteristics of 45 strains coagulase-negative Staphylococcus sp isolated from clinical specimens

No presente trabalho foram analisadas 45 amostras de Staphylococcus coagulase negativa isoladas de especimes clinicos, quanto a diversas caracteristicas e propriedades biologicas. Alem da classificaçao em especies, foram efetuados estudos sobre a sensibilidade a antimicrobianos e determinada a concentraçao minima inibitoria destas amostras frente a vancomicina e a oxacilina. Cinco especies foram identificadas pelo metodo convencional (Kloos & Schleifer, 1975) associado a alguns testes do Micrometodo Bactrey, e corresponderam: S.saprohyticus (6); S. epidermidis (20); S. hominis (4); S. haemolyticus (7); S. warnery (5). Tres amostras nao foram identificadas. Uma percentagem elevada (84,4 por cento ) de amostras apresentaram resistencia a penicilina, em menor grau, a canamicina (55,6 por cento ), gentamicina (48,9 por cento ), fosfomicina (44,4 por cento ) e, oxacilina e sulfametoxazol-trimetoprim (37,8 por cento ). Foram encontradas amostras (66,6 por cento ) multi-resistentes. Todas as amostras foram testadas quanto a produçao de beta-lactamase, 35 tiveram resultado positivo, das quais 20 eram S. epidermidis. Na determinaçao da concentraçao minima inibitoria a oxacilina apresentou uma percentagem de amostras resistentes (72,1 por cento ) bem maior que no teste de sensibilidade a antimicrobianos por difusao em agar frente a este antibiotico (39,5 por cento )