Vacunación BCG e inmunodeficiencias primarias: ¿es momento de un cambio? / BCG vaccine administration schedule and primary immunodeficiencies: Is it time for a change?

Resumen: Los pacientes con Inmunodeficiencias primarias (IDP) tienen un riesgo elevado de complicaciones severas por la vacuna BCG, incluso mortalidad. Es necesario evaluar periódicamente el riesgo versus beneficio de la vacunación universal BCG en el periodo neonatal. Chile es un país con baja incidencia de tuberculosis (TB) pero cuya epidemiología ha cambiado recientemente con un aumento de los casos. Cambios en esquemas de vacunación BCG en países con incidencias mayores o similares de TB y con coberturas de vacunación menores han sido posibles sin aumento de los casos graves de TB que son los que previene la BCG. El cambio ha evitado complicaciones graves en pacientes con IDP. Creemos que un análisis crítico de la fecha de vacunación BCG debe realizarse hoy en Chile. Más aún dada la posibilidad técnica de realizar screening neonatal de IDP.

Abstract: Patients with Primary Immunodeficiencies (PID) are at a higher risk of developing severe morbidities and mortality due to the administration of BCG vaccine. Risk-to-benefit of universal BCG vaccina tion of newborns must be assessed periodically. Chile has a low incidence of tuberculosis (TB) but the local epidemiology has recently changed with an increase of TB cases. Changes in the BCG vaccine schedule have been made in countries with similar or higher TB incidences and lower BCG vaccine coverage, with no increase in the severe TB cases, which are prevented by BCG. These changes have prevented serious complications in PID patients. We propose a critical analysis of the BCG adminis tration date in Chile due to the technical possibility of performing neonatal PID screening.

Barreras y facilitadores percibidos por el equipo de salud para la implementación de saturometría pre y post ductal como método de detección de cardiopatías congénitas en recién nacidos, previo al alta / Barriers and facilitators perceived by the health team for the implementation of pre and post ductal saturometry as a method of detection of congenital heart diseases in newborns, prior to discharge

OBJETIVO: Describir principales barreras y facilitadores percibidos por equipo de salud para la implementación de Saturometría Pre y Post Ductal (SPPD) como método de detección de Cardiopatías Congénitas (CC), en recién nacidos (RN) previo al alta hospitalaria. MATERIAL Y MÉTODO: Desde un paradigma constructivista de investigación, se realizó un estudio de caso en tres hospitales públicos de la región metropolitana: Dos de ellos son hospitales de alta complejidad. Uno; el Hospital NUEVO, inició su actividad recientemente y el otro; el Hospital ANTIGUO, lleva muchos años funcionando. El tercero; el Hospital RURAL, es un establecimiento de baja complejidad, ubicado cerca de Santiago. Los datos se recolectaron mediante entrevistas semiestructuradas individuales y grupos focales a Técnicos de Enfermería (TENS), Matrones y Médicos. Las entrevistas fueron grabadas y transcritas. Se efectúa análisis de contenido temático, utilizando el software cualitativo NVivo11. La investigación contó con aprobación de Comité de Ética, reconocido por los Hospitales involucrados. RESULTADOS: En el Hospital NUEVO, donde la SPPD se implementó hace más de un año, las barreras se detectan a nivel de ejecución, especialmente en insumos del saturador y en los fines de semana. En el Hospital ANTIGUO y el Hospital RURAL, en los cuáles la SPPD no encontraba implementada, las principales barreras percibidas se sintetizan en insuficiente conocimiento acerca de su utilidad, aspectos económicos, sobrecarga laboral y aspectos organizacionales. En el Hospital NUEVO los principales facilitadores para la aplicación de la SPPD fueron su sencillez, economía y el ser un importante aporte para la seguridad de los recién nacidos dados de alta. CONCLUSIÓN: La disposición frente a la práctica de SPPD a modo de screening varía en los 3 hospitales explorados. Para lograr dicha meta se recomienda subsanar barreras organizacionales, de gestión y económicas. Aunque falta capacitar al personal a cargo de screening, existe buena disposición dada la importancia para la salud del RN. El flujo de derivación posterior a screening de SPPD positivo está bastante claro.

OBJECTIVE: To describe the main barriers and facilitators perceived by the health care workers for the implementation of Pre- and Post-Ductal Oxygen Saturation (SPPD) as a detection method of Con genital Heart Disease in newborns, prior to hospital discharge. MATERIAL AND METHOD: From a cons tructivist research paradigm, a case study was carried out in three public hospitals in the Metropoli tan Region, Chile, two of them are high-complexity hospitals. The first one, the NEW Hospital, has recently started its activity, and the second one, the OLD Hospital, has been operating for many years. The third one, the RURAL Hospital, is a low-complexity institution, located near Santiago. Data were collected through individual semi-structured interviews and focus groups to Nursing Technicians (TENS), Midwives and Physicians. The interviews were recorded and transcribed. Thematic content analysis is performed using the NVivo11 qualitative software. The investigation was approved by the Ethics Committee recognized by the hospitals involved. RESULTS: In the NEW Hospital, where the SPPD was implemented more than a year ago, barriers are detected at execution level, especially in oximeter inputs and on weekends. In the OLD Hospital and the RURAL Hospital, in which the SPPD was not implemented, the main perceived barriers are concentrated in insufficient knowledge about their usefulness, economic aspects, work overload, and organizational aspects. In the NEW Hospital, the main facilitators for the application of SPPD were its simplicity, economy, and the fact that it is an important contribution to the safety of newborns discharged. CONCLUSION: The disposition regar ding the practice of PPDS as a screening, varies in the 3 hospitals explored. To achieve this goal it is recommended to overcome organizational, management and economic barriers. Although there is a need to train the personnel in charge of screening, there is good disposition given the importance for the health of the RN. The flow of referral after screening for positive SPPD is quite clear.

Evaluation of effectiveness and outcome of PKU screening and management in the State of Sergipe, Brazil / Avaliação da eficiência e desfecho da triagem e manejo da PKU no Estado de Sergipe, Brasil

Objectives: Phenylketonuria (PKU) was the first inherited metabolic disease known to cause mental retardation for which a newborn screening program (NBS) was developed. The objective of this study was to evaluate the effectiveness of PKU NBS and the management of cases in the northeastern Brazilian state of Sergipe (SE).Materials and methods: We reviewed the phenylalanine concentrations in filter-paper collected from the heel (PKUneo) of 43,449 newborns; blood concentrations obtained by venipuncture in the subjects with abnormal PKUneo; the children’s age at several phases of the program, the incidence of the disease from January 2007 to June 2008; and metabolic control of the patients.Results: The coverage of NBS/SE was 78.93%. The children’s age was 10 ± 7 days at PKUneo collection. Twelve children were recalled based on the PKUneo cutoff value at 28 ± 13 days. From these, the concentrations of phenylalanine collected by venipuncture were normal in five children. The incidence of hyperphenylalaninemia was 1/43,449, and of PKU was 1/8,690 (5 cases). One suspected subject died. Another death occurred in the cohort, in a confirmed PKU case. PKU treatment began within 51 ± 12 days of life. In the four patients under dietary phenylalanine restriction, metabolic control was often difficult.Conclusions: PKU NBS/SE has satisfactory coverage and adequate cutoff for recalling patients and diagnosis, but the onset of treatment is delayed, and follow-up metabolic control is frequently inadequate.

Objetivos: A fenilcetonúria (PKU) foi a primeira causa metabólica hereditária de retardamento mental para a qual foi desenvolvido um programa de triagem em recém-nascidos (NBS). O objetivo deste estudo foi avaliar a eficácia do NBS para a PKU e o manejo dos casos em Sergipe (SE), Brasil.Materiais e métodos: Revisamos as concentrações de fenilalanina no filtro de papel coletado do calcanhar (PKUneo) de 43.449 recém-nascidos, suas concentrações de sangue obtidas por punção venosa em indivíduos com PKUneo anormal, a idade das crianças em diversas fases do programa, a incidência da doença no período de janeiro de 2007 a junho de 2008 e o controle metabólico dos pacientes.Resultados: A cobertura da NBS/SE foi de 78,93%. A idade das crianças era de 10 ± 7 dias na coleta de PKUneo. Doze crianças foram reconvocadas com base no ponto de corte de PKUneo aos 28 ± 13 dias de idade. Destas, as concentrações de fenilalanina por venipunctura foram normais em cinco. A incidência da hiperfenilalaninemia foi 1/43.449 e de PKU foi 1/8.690 (5 casos), e um indivíduo suspeito foi a óbito. Outro óbito ocorreu na coorte em um caso de PKU confirmado. O tratamento para a PKU começou com 51 ± 12 dias. Nos quatro pacientes sob restrição de fenilalanina alimentar, o controle metabólico foi frequentemente difícil.Conclusões: PKU NBS/SE apresenta uma cobertura satisfatória e ponto de corte adequado para reconvocação e diagnóstico, mas o início do tratamento é atrasado e o controle no seguimento é frequentemente inadequado.

Aplicación de la espectrometría de masas en tandem en el tamiz neonatal de los errores innatos del metabolismo / Use of tandem mass spectrometry for the newborn screening of inborn errors of metabolism / Aplicação da espectrometria de massas em tandem no screening tamiz neonatal dos erros inatos do metabolismo

La aplicación de la espectrometría de masas en tandem en el diagnóstico de los errores innatos del metabolismo ofrece la posibilidad de ampliar el número de enfermedades que son tamizadas durante el periodo neonatal. Esta tecnología permite detectar, con gran sensibilidad, especificidad y rapidez, más de 30 enfermedades metabólicas en un mismo ensayo a partir de un único disco de sangre seca sobre papel de filtro. Para esto se realiza el análisis combinado del perfil de aminoácidos y acilcarnitinas sin requerir, generalmente, de sistemas de cromatografía adicionales. El procesamiento analítico que actualmente se utiliza en los diferentes laboratorios de tamiz es relativamente homogéneo.

The use of tandem mass spectrometry in the diagnosis of inborn errors of metabolism has the potential to expand newborn screening programmes to include many different diseases. This technique can quickly detect, with great specificity and sensibility, more than 30 diseases using the same punch of dried blood in filter paper through the combined analysis of acylcarnitines and amino acid mass spectra profile. The detection of a particular disease this way could be made without the need of a chromatographic system. The analytical analyses in current use by different screening laboratories are very similar.

A aplicação da espectrometria de massas em tandem no diagnóstico dos erros inatos do metabolismo oferece a possibilidade de ampliar os programas de screening neonatal para incluir maior número de doenças. Esta tecnologia permite detectar, com grande sensibilidade, especificidade e rapidez, mais de 30 doenças metabólicas em um mesmo ensaio a partir de um único disco de sangue seco sobre papel de filtro. Para isso é realizada a análise combinada do perfil de aminoácidos e acilcarnitinas sem precisar, geralmente, de sistemas de cromatografia adicionais. O processamento analítico que atualmente è utilizado nos diferentes laboratórios de screening é relativamente homogêneo.