Red reflex technique training simulator in newborns / Simulador para o treinamento da técnica do reflexo vermelho em recém-nascidos

Abstract: Introduction: The Red Reflex Test (RRT) consists of visualizing the reflection that light causes in the retina when it passes through the pupil. It is a screening test for pathologies that can lead to blindness, which still have great social and economic impact on families and the government. Teaching through simulators allows students and health professionals to acquire and improve their clinical skills. Objective: The aim of the study is to develop a low-cost dummy, 3D printed and based on the Arduino platform, for the training of the red reflex technique (RRT) in newborns and evaluate its educational effectiveness. Method: A RRT dummy was presented to 7 expert judges: 6 pediatricians and 1 ophthalmologist to evaluate its applicability in medical learning. For this purpose, they used a 14-item Likert scale of 5 points. Subsequently, 40 individuals participated in a course: 33 medical students, 5 pediatric residents, a nurse and a general physician. The participants were randomly assigned to two groups: control (CG) and experimental (EG) group. Each group consisted of 20 participants. The EG went through 4 stages: 1) theoretical background; 2) handling of the simulator; 3) simulated clinical practice and; 4) evaluation in real-life patients. Whereas the CG went through the following teaching methodological processes: 1) theoretical background; 2) direct training in real-life patients and; 4) practical evaluation in a real-life patient. After each respective group intervention, both groups were assessed on their learning in 40 newborns at Santa Casa de Misericórdia do Pará Foundation in Belém, state of Pará, Brazil. Results: At the judges' evaluation regarding the simulator positive items (design, similarity, interest, relevance, content, memorization, didactics, previous reminiscence, comprehension and application), 49.2% answered 'strongly agree' and 44.4%, 'agree'. Regarding the negative questions (difficulty in understanding, information overload, abstraction, difficulty in handling and clarity of operation), 40.0% answered 'strongly disagree', and 57.1%, 'disagree'. The judges were 94.9% favorable to the use of the simulator in medical education. However, comparing the two groups of students, regarding the time of exam, the results showed no statistically significant difference (p-value = 0.29). Conclusions: The dummy showed its applicability for the learning of RRT, with the advantage of being able to perform the exam without having to disturb a real-life patient.

Resumo: Introdução: O Teste do Reflexo Vermelho (TRV) consiste em visualizar o reflexo que a luz causa na retina ao passar pela pupila. Dessa forma, o TRV tria patologias que levam à cegueira e pode reduzir o impacto social e econômico das famílias e do governo. O ensino por meio de simuladores permite que estudantes e profissionais de saúde adquiram e melhorem as habilidades clínicas. Objetivos: Este estudo teve como objetivos desenvolver um manequim de baixo custo, impresso em 3D e baseado na plataforma Arduino, para o treinamento do TRV em recém-nascidos e avaliar a eficácia educacional desse exame. Métodos: Um manequim do TRV foi apresentado a sete juízes especialistas - seis pediatras e um oftalmologista - que avaliaram a aplicabilidade do teste na aprendizagem médica. Para isso, utilizaram a escala Likert de 14 itens de 5 pontos. Posteriormente, 40 participantes participaram de um curso: 33 estudantes de Medicina, cinco residentes em pediatria, uma enfermeira e um médico generalista. Dividiram-se aleatoriamente os participantes em dois grupos: controle (GC) e experimental (GE). Cada grupo foi composto por 20 participantes. Submeteu-se o GC ao ensino convencional em pacientes reais. O GE passou por quatro etapas: 1. fundamentação teórica, 2. manipulação do simulador, 3. prática clínica simulada e 4. avaliação nos pacientes reais. No GC, adotaram-se os seguintes passos: 1. fundamentação teórica, 2. treinamento direto em pacientes reais e 3. avaliação em pacientes reais. Após a intervenção de cada grupo, os dois grupos foram avaliados quanto à aprendizagem em 40 recém-nascidos da Fundação Santa Casa de Misericórdia do Pará, em Belém, no Pará. Resultados: Na avaliação dos juízes em relação aos itens positivos para o simulador (design, similaridade, interesse, relevância, conteúdo, memorização, didática, reminiscência anterior, compreensão e aplicação), 49,2% afirmaram que concordavam fortemente e 44,4% mencionaram apenas que concordavam. Nas questões negativas (dificuldade de entendimento, sobrecarga de informação, abstração, dificuldade de manuseio e clareza de operação), 40,0% discordaram fortemente e 57,1% discordaram. Os juízes concordaram em 94,9% a favor do uso do simulador na educação médica. Porém, comparando os dois grupos de estudantes, em relação ao tempo de exame, os resultados não mostraram diferença estatisticamente significante (p = 0,29). Conclusão: O manequim mostrou aplicabilidade na aprendizagem do TRV, com a vantagem de realizar o exame sem que o paciente real fosse incomodado.

Intra- and inter-rater reliability of a biophotogrammetric assessment protocol for preterm infants / Confiabilidade intra e interexaminador do protocolo de avaliação biofotogramétrica em prematuros

ABSTRACT Objective: To measure the intra- and inter-rater reliability of a biophotogrammetric assessment protocol for thoracoabdominal motion in preterm infants. Methods: This is an analytical cross-sectional study. Footage of 40 preterm infants was made in two views (lateral and anterior). The babies were placed in the supine position, with retroverted pelvis and semiflexed knees. Acrylic markers were positioned on surgical tape in eight predetermined anatomical points. We analyzed 4 variables in lateral view and 11 in anterior view (angular and linear) (ImageJ®), divided into two stages: 1. same frames - three blinded evaluators analyzed frames previously selected by the main researcher (inter-rater analysis 1), reviewing these same frames after 15 days (intra-rater analysis 1); 2. different frames - each evaluator selected the frames from the original video and repeated the protocol (inter-rater analysis 2), with a review after 15 days (intra-rater analysis 2). In stage 2, we tested the reliability of the entire process, from image selection to the analysis of variables. Data agreement and reproducibility were obtained by the intraclass correlation coefficient (ICC). Results: Agreement was high, particularly in angular variables (ICC 0.82 to 0.99). Linear variables ranged between very good and excellent in analysis 1 (same frames: ICC 0.64 to 0.99) and analysis 2 (different frames: ICC 0.44 to 0.89). Conclusions: The present study suggests that the proposed protocol for the thoracoabdominal motion analysis of preterm neonates has high reliability.

RESUMO Objetivo: Mensurar a confiabilidade intra e interexaminador de um protocolo de avaliação biofotogramétrica da mobilidade toracoabdominal de prematuros. Métodos: Estudo de caráter transversal e analítico. Incluíram-se filmagens de 40 prematuros em duas vistas (lateral e superior), realizadas em supino, pelve retrovertida e joelhos em semiflexão. Marcadores de acrílico foram posicionados sobre Micropores em oito pontos anatômicos predeterminados. Foram analisadas 4 variáveis na vista lateral e 11 na vista superior (angulares e lineares) (ImageJ®), divididas em duas etapas: (1-Frames iguais) análises de fotogramas previamente selecionados pela pesquisadora principal por três avaliadores cegos (análise interexaminador 1), com reanálise desses mesmos fotogramas após 15 dias (análise intraexaminador 1); (2-Frames diferentes) cada avaliador selecionou os fotogramas por meio do vídeo original e repetiu o protocolo (análise interexaminador 2), com reanálise após 15 dias (análise intraexaminador 2). Em (2), foi testada a confiabilidade de todo o processo de análise, desde a separação das imagens até a análise das variáveis. A concordância e reprodutibilidade dos dados foram obtidas pelo coeficiente de correlação intraclasse (CCI). Resultados: Houve concordância forte, com ênfase nas variáveis angulares (CCI [0,82 a 0,99]). As variáveis lineares apresentaram variação entre muito boa e excelente na análise 1 (frames iguais: CCI 0,64 a 0,99) e na análise 2 (frames diferentes: CCI entre 0,44 e 0,89). Conclusões: O presente estudo sugere forte confiabilidade do protocolo proposto para análise da movimentação toracoabdominal de neonatos prematuros.

Construction and validation of the neonatal nutritional risk screening tool / Construção e validação da ferramenta de avaliação de risco nutricional neonatal

ABSTRACT Objective: To develop and validate both the content and reliability of the Neonatal Nutritional Risk Screening Tool (FARNNeo). Methods: Methodological study, convergent care. The instrument was built prior to the literature review and was analyzed by eight judges, during three cycles of the Delphi technique. The judges assessed their relevance and clarity with responses on the Likert scale with three levels, in addition to suggestions. The validation of the instrument was calculated using the agreement rate and content validity index (CVI). After content validation, the instrument was applied by four assisting nutritionists to verify reliability, using Cronbach`s alpha coefficient and the agreement between the evaluators by the Kappa coefficient. Results: All items of the instrument`s content reached the minimum agreement rate (90%) and/or CVI (0.9), except for item three, which in the first cycle obtained CVI 0.77 and 40% of agreement and, in the second cycle, CVI 0.75 and 38% agreement. At the end of the third cycle, all items had CVI values above 0.9. In the instrument application, alpha of 0.96 and Kappa of 0.74 were obtained, which reflect adequate values of internal consistency and agreement between the evaluators. Conclusions: FARNNeo proved to be reliable, clear, relevant, and reproducible for tracking early nutritional risk, systematizing the care of Brazilian newborns admitted to an intensive care unit.

RESUMO Objetivo: Desenvolver e validar o conteúdo e a confiabilidade da Ferramenta de Avaliação do Risco Nutricional Neonatal (FARNNeo). Métodos: Estudo metodológico, convergente assistencial. O instrumento foi construído previamente à revisão da literatura e analisado por oito juízes, durante três ciclos da técnica Delphi. Os juízes avaliaram sua pertinência e clareza com respostas na escala Likert com três níveis, além de sugestões. A validação do instrumento foi calculada pela taxa de concordância e índice de validade de conteúdo (IVC). Após a validação do conteúdo, o instrumento foi aplicado por quatro nutricionistas assistenciais para verificar a fidedignidade, utilizando o coeficiente de alfa de Cronbach e a concordância entre os avaliadores pelo coeficiente Kappa. Resultados: Todos os itens do conteúdo do instrumento alcançaram o valor mínimo da taxa de concordância (90%) e/ou IVC (0,9), com exceção do item três, que no primeiro ciclo obteve IVC 0,77 e 40% de concordância e, no segundo ciclo, IVC 0,75 e 38% de concordância. No fim do terceiro ciclo, todos os itens obtiveram valores de IVC acima de 0,9. Na aplicação da ferramenta, obteve-se alfa de 0,96 e Kappa de 0,74, que refletem valores adequados de consistência interna e concordância entre os avaliadores. Conclusões: A FARNNeo mostrou-se confiável, clara, pertinente e reprodutível para rastreamento do risco nutricional precoce, sistematizando o atendimento de recém-nascidos brasileiros internados em centro de terapia intensiva.

Association between ankyloglossia and breastfeeding / Associação entre anquiloglossia e amamentação

ABSTRACT Purpose To analyze the association between ankyloglossia and breastfeeding. Methods A cross-sectional study was undertaken on 130 newborn infants in exclusive breastfeeding with Apgar score ≥ 8 within the first five days of life. The research was approved by the Ethics Committee on Human Research. The data collection was performed by the researcher and by three trained speech therapists of the team. The protocols applied were the Neonatal Tongue Screening Test from the Lingual Frenulum Protocol for Infants, the UNICEF Breastfeeding Observation Aid, and the collection of maternal complaints related to the difficulty in breastfeeding was also considered. The data were submitted to statistical analysis - chi-square test and Fisher's exact test, with a significance level of 5%. Results When correlating the data, the statistical analysis revealed an association between ankyloglossia and the items of suckling category of the Breastfeeding Observation Aid. The association between complaint of difficulty in breastfeeding and ankyloglossia was also seen. Conclusion On the first days of life, ankyloglossia is associated with the mother's breastfeeding complaint and with the newborn's sucking difficulty.

RESUMO Objetivo Verificar associação entre anquiloglossia e amamentação. Método Estudo transversal, realizado em 130 recém-nascidos, em um Hospital Universitário. Foram incluídos recém-nascidos entre um a cinco dias de vida, com Apgar score ≥ 8, em aleitamento materno exclusivo. Participaram da pesquisa apenas recém-nascidos de termo e saudáveis. Esta pesquisa foi aprovada pelo Comitê de Pesquisa com Seres Humanos. A coleta de dados foi realizada pela pesquisadora e por três fonoaudiólogas da equipe, devidamente treinadas e calibradas. Os protocolos aplicados foram: avaliação anatomofuncional do Protocolo de avaliação do frênulo da língua em bebês, o Protocolo de Observação da Mamada da UNICEF e coleta das queixas maternas referentes a dificuldade ou não para amamentar. Os dados obtidos foram submetidos à análise estatística, sendo aplicado o teste Qui-quadrado e teste exato de Fisher, adotando nível de significância de 5%. Resultados Quando correlacionados os dados, a análise estatística demonstrou associação entre anquiloglossia e os itens da categoria de sucção do Protocolo de Observação da Mamada. Encontrou-se também associação entre queixa de dificuldade para amamentar e anquiloglossia. Conclusão Nos primeiros dias de vida, a anquiloglossia está associada com queixa da mãe para amamentar e com a dificuldade de sucção do recém-nascido.

Reliability of Total Bilirubin Measurements in Whole Blood from Preterm Neonates Using a Blood Gas Analyzer.

BACKGROUND: Blood gas analyses are usually required more frequently in preterm neonates than in term neonates. If total bilirubin (TB) levels in whole blood measured using a blood gas analyzer are reliable, blood sampling for total serum bilirubin (TSB) levels alone can be reduced in preterm neonates. We investigated the reliability of measuring TB levels in whole blood from preterm neonates using the latest generation blood gas analyzer. METHODS: TB measured on an ABL90 FLEX blood gas analyzer and TSB analyzed in the hospital laboratory were simultaneously analyzed. TB and TSB levels (300 data sets in 85 preterm neonates) were compared using linear regression and Bland-Altman difference plots. RESULTS: Concordance correlation coefficient analysis showed a strong relationship between TB and TSB levels (a CCC value of 0.94) with a Pearson's coefficient of 0.97 and a bias correction of 0.97. Bland-Altman difference p lots demonstrated that, on average, TB tended to underestimate the TSB, with a mean (95% confidence interval) bias of -0.7 (-0.6 to -0.8) mg/dL. CONCLUSIONS: Whole blood TB levels measured using an ABL90 FLEX are reliable and can lead to a reduction in blood sampling for TSB in preterm neonates.

Liquid chromatography tandem mass spectrometry in the clinical laboratory.

Clinical laboratory medicine has seen the introduction and evolution of liquid chromatography tandem mass spectrometry in routine clinical laboratories over the last 10-15 years. There still exists a wide diversity of assays from very esoteric and highly specialist manual assays to more simplified kit-based assays. The technology is not static as manufacturers are continually making improvements. Mass spectrometry is now commonly used in several areas of diagnostics including therapeutic drug monitoring, toxicology, endocrinology, paediatrics and microbiology. Some of the most high throughput analyses or common analytes include vitamin D, immunosuppressant monitoring, androgen measurement and newborn screening. It also offers flexibility for the measurement of analytes in a variety of different matrices which would prove difficult with immunoassays. Unlike immunoassays or high-pressure liquid chromatography assays using ultraviolet or fluorescence detection, mass spectrometry offers better specificity and reduced interferences if attention is paid to potential isobaric compounds. Furthermore, multiplexing, which enables multiple analytes to be measured with the same volume of serum is advantageous, and the requirement for large sample volumes is decreasing as instrument sensitivity increases. There are many emerging applications in the literature. Using mass spectrometry to identify novel isoforms or modified peptides is possible as is quantification of proteins and peptides, with or without protein digests. Future developments by the manufacturers may also include mechanisms to improve the throughput of samples and strategies to decrease the level of skill required by the operators.

Newborn screening for Tyr-I: two years' experience of the New York State program.

In 2 years, the New York newborn screening program has analyzed approximately 500,000 samples for succinylacetone (SUAC), the biomarker for Tyrosinemia, type I. There have been five screen-positive results. Two of these results were considered borderline, and a repeat specimen was requested. In three cases, an immediate referral was made to a specialty care center. Two of those three cases were confirmed for Tyr-I.

Comparación de la evaluación tradicional del desarrollo psicomotor versus una prueba autoadministrada / Comparison of traditional psychomotor development evaluation versus a self-administe-red test

Introduction: The purpose of this study is to evaluate the applicability of a self-administered questionnaire in the screening of psychomotor development (PD) in a primary care setting (PC). For that purpose, the degree of concordance between the Ages and Stages Questionnaire (ASQ) and a Psychomotor Development Evaluation Scale (Escala de Evaluación del Desarrollo Psicomotor-EEDP) currently utilized in PC was tested. In addition, perceptions and value judgment by professionals who participated in the study were explored. Methodology: This semi-quantitative study was performed between November 2008 and December 2009 in two PC centers of the Metropolitan Area of Chile on full-term newborns of the well-baby clinic. At age 8 and 18 months, parents or primary caretakers were asked to fill out the ASQ, and a PC professional completed the EEDP. Correlation and concordance between both tests was measured. Interviews and mini-focus groups were con-ducted with the participating professionals. Results: Three hundred and thirty newborns were recruited in the study. PD deficits were found on 8.79 percent of patients through the use of EEDP and in 12.73 percent through the use of ASQ (p = 0,05). Correlation between both evaluations was acceptable (r 0,5) as was concordance in deficit detection (kappa 0.576). The qualitative analysis showed appreciation of ASQ as a measuring tool as well as promoting awareness of PD. Staff of the PC settings utilized various strategies to overcome deficiencies of a self-administered test in populations of higher socio-educational and cultural risk. Conclusions: ASQ picked up significantly more PM deficits than EEDP, while correlation and concordance indices between both tests were adequate. Considering the subjective advantages expressed by staff in favor of ASQ, it is proposed that those PC centers that wish to implement the ASQ do so by progressively incorporating parents and caretakers into the observation of their children's development.

Introducción: El propósito del estudio fue evaluar la aplicabilidad de un cuestionario de autoreporte para el screening del desarrollo psicomotor (DSM) en atención primaria de salud (APS). Para ello se analizó el grado de acuerdo entre el cuestionario Ages and Stages (ASQ) y la Escala de Evaluación del Desarrollo Psicomotor (EEDP), que es el método empleado de rutina en APS. Además, se exploraron las percepciones y valoraciones comparativas de profesionales que participaron en la aplicación de dichos test. Metodología: Estudio cuanti-cualitativo, realizado entre noviembre 2008 y diciembre 2009. En 2 centros de Salud de la Región Metropolitana de Chile se reclutó lactantes nacidos de término, que acudieron a control sano. A los 8 y 18 meses se les solicitó a los padres o cuidadores principales completar el ASQ y un profesional de APS aplicó el EEDP. Se midió la correlación y concordancia entre ambos test. Se aplicaron entrevistas individuales y mini focus groups a los profesionales participantes en las evaluaciones. Resultados: Fueron reclutados 330 lactantes. La frecuencia de déficit del DSM fue 8,79 por ciento en EEDP y 12,73 por ciento en ASQ (p0,05). Hubo correlación entre ambas evaluaciones (r 0,5) y la concordancia en la pesquisa de déficit de DSM fue buena (kappa 0.576). En el análisis cualitativo destacó la valoración positiva del ASQ, tanto como instrumento de medición, como guía para promover el DSM. Para suplir las debilidades del ASQ, relacionadas con la modalidad de autoreporte, en grupos de mayor riesgo socio cultural o educacional, los centros de salud adoptaron diferentes estrategias. Conclusiones: El ASQ pesquisó significativamente más déficits del DSM que el EEDP, mientras que la correlación y concordancia entre ambas pruebas fueron adecuadas. Considerando las ventajas comparativas del ASQ en opinión de los profesionales, se propone que los centros de APS que deseen implementar ASQ, tomen una estrategia progresiva basada en la integración de ...

Tamizaje neonatal por espectrometría de masas en tándem: actualización / Neonatal screening by tandem mass spectrometry: an update

La espectrometría de masas en tándem (MS/MS) ha posibilitado la expansión de los programas de tamizaje neonatal en diferentes países. Esta tecnología permite el diagnóstico múltiple y rápido de diversos errores innatos del metabolismo. Sin embargo, su aplicación en distintos programas en el ámbito mundial es actualmente muy heterogénea. Existen diferentes criterios para determinar si se incluye una enfermedad específica en esos programas, en algunos casos con un enfoque más restrictivo que en otros, de acuerdo con los principios tradicionales de tamizaje enunciados por Wilson y Jungner, los que habrán de ser reevaluados a la luz de esta nueva tecnología. En este trabajo se presenta una actualización sobre el uso de la MS/MS en diferentes regiones del mundo en relación con las enfermedades tamizadas y con los criterios de inclusión de nuevos problemas de salud en los programas de tamizaje neonatal.

Tandem mass spectrometry (MS/MS) has made it possible to expand neonatal screening programs in different countries. This technology permits multiple and rapid diagnosis of diverse inborn errors of metabolism. However, its use in different programs around the world currently varies widely. There are different criteria for determining whether to include a specific disease in such programs, with some cases employing a more restrictive approach than others, based on the traditional screening principles enunciated by Wilson and Jungner, which will have to be reevaluated in light of this new technology. This article presents an update on the use of MS/MS in different regions of the world in terms of the diseases screened for, and the criteria for including new health problems in neonatal screening programs.

Posthumous diagnosis of long QT syndrome from neonatal screening cards.

BACKGROUND: Molecular autopsy in sudden unexplained death in the young (SUDY) victims cannot usually be performed if tissue suitable for DNA extraction is not retained at autopsy. OBJECTIVE: The purpose of this study was to assess the feasibility and clinical value of posthumous genetic testing for long QT syndrome (LQTS) using residual material from the neonatal screening (Guthrie) card in SUDY victims. METHODS: Twenty-one cases were investigated up to 13 years after death. Deaths occurred at <1 year in one, 1-18 years in 18, and 19-35 years in two patients. Guthrie cards were 3-39 years old. DNA was extracted, and amplicons corresponding to the coding regions of the LQTS genes 1, 2, 3, 5, and 6 underwent either denaturing high-performance liquid chromatography screening or direct DNA sequencing. RESULTS: Adequate DNA was extracted in every case, although repeated purification and amplification was often required. Rare variants were detected in six of 19 cases undergoing diagnostic screening. Four (21%) are considered to be pathological and have been used for family screening: R243C and H455Y in KCNQ1 in 12-year-old and 13-year-old boys, respectively, and Q81H and S621R in KCNH2 in 21-month and 28-year-old females, respectively. Variants of uncertain significance were R1047L in KCNH2 in a 2-year-old girl and S38G in KCNE1 in a 19-month-old boy. Point mutation tests for previously identified familial LQTS mutations revealed a positive result in both cases: E146K in KCNQ1 and exon 6-4del in KCNH2. CONCLUSION: Residual material from Guthrie cards collected for newborn metabolic screening can be used as a reliable source of DNA for the posthumous diagnosis of LQTS decades after SUDY, although purification and amplification of DNA is time intensive.

Visual screening versus transcutaneous bilirubinometry for predischarge jaundice assessment.

OBJECTIVE: Comparison of visual screening with transcutaneous bilirubinometry (TcB) in identifying neonates with plasma total bilirubin (PTB) > or =75th percentile. DESIGN: In 100 paired readings PTB was 34 +/- 24 micromol/L higher than the TcB counterpart. A TcB reading of 154 micromol/L was therefore regarded as equivalent to a PTB of 188 micromol/L, corresponding to the 75th percentile at 48 h. Predischarge, all newborns were evaluated for jaundice, first by visual inspection and then transcutaneously. PTB was ordered as indicated by visual assessment or if the TcB reading was > or =154 micromol/L. RESULTS: Of 346 newborns tested, 25 (7.2%) had a PTB concentration > or =75th percentile. Forty-nine had PTB determinations based on TcB compared with 83 by visual assessment. However, a similar number of affected newborns was identified by each method (21/25 (84%) by visual screening vs. 18/25 (72%) by TcB). PTB concentrations of those who had been chosen by TcB were higher than those selected visually (202 +/- 24 micromol/L vs. 186 +/- 31 micromol/L). CONCLUSIONS: A practical method for predischarge detection of neonates with plasma total bilirubin concentration > or = 75th percentile, implementing transcutaneous bilirubinometry, is described. The transcutaneous technique required fewer blood tests than visual assessment for similar yield.

Evaluation of transcutaneous bilirubinometry in preterm infants of gestational age 32-34 weeks.

AIMS: The aim of this prospective study was to evaluate the accuracy of transcutaneous bilirubinometry using the Minolta Air-Shields JM-103 device in preterm newborns of gestational age 32-34 weeks, and to identify the most appropriate measurement site. METHODS: Transcutaneous bilirubin (TcB) measurements were performed over forehead, sternum and abdomen, if total serum bilirubin (TSB) had to be determined on clinical indication in neonates of selected gestational age. TSB levels were measured in a clinical laboratory using direct spectrophotometry. In order to assess transcutaneous bilirubinometry accuracy, differences between TSB and TcB, their CI 95%, and correlation coefficients (r) between TcB and TSB were evaluated. RESULTS: The study group consisted of 44 infants, including 6 very low birth weight (VLBW) neonates. The correlations between transcutaneous and laboratory values were found to be significant and close. Minimal differences were observed when measured over sternum. The measurements over forehead had a tendency to underestimate TSB levels. CONCLUSIONS: Noninvasive measurement by Minolta JM-103 demonstrated significant accuracy. The authors recommend measurements over sternum or abdomen in premature infants born within 32-34 gestational weeks as a reliable and accurate neonatal hyperbilirubinemia screening test. Transcutaneous bilirubinometry has the potential to reduce the number of blood samplings, thus reducing neonatal pain and discomfort, parental distress and medical care cost.

Development and characterization of dried blood spot materials for the measurement of immunoreactive trypsinogen.

OBJECTIVES: In response to increasing numbers of states in the US that test newborn babies for cystic fibrosis (CF), the Newborn Screening Quality Assurance Programme initiated a pilot proficiency testing programme for immunoreactive trypsinogen (IRT), the biomarker for CF. Dried blood spot specimens (DBS) were used to evaluate the performance of laboratories that screen babies for CF. METHODS: DBS were prepared from human whole blood enriched with physiologically relevant levels of IRT. Various methods of making IRT-enriched DBS were used to optimize the recovery and stability of the biomarker, including preparation of DBS from either intact or lysed red blood cells, varying the timing of IRT addition to blood before dispensing onto filter paper, adding a protease inhibitor cocktail, and treating serum with charcoal before IRT enrichment. The recovery and stability of IRT in DBS were assessed. Newborn screening laboratories were offered the opportunity to test blind-coded DBS in the pilot PT programme. RESULTS: IRT was stable in the filter paper matrix when stored for one year at either -20 degrees C or 4 degrees C. Fifty percent more IRT was recovered from DBS prepared with lysed red blood cells where the IRT was added to blood just before dispensing; however, protease inhibitors did not improve IRT recovery. CONCLUSIONS: IRT in the DBS matrix is stable and can be shipped worldwide under ambient conditions. Optimal IRT recovery was achieved by adjustment of DBS production practices. Laboratories receiving specimens accurately measured IRT by a variety of commercial and in-house methods.

No CMV DNA in Guthrie cards from children who later developed ALL.

An association of a viral infection in utero and development of acute lymphoblastic leukemia (ALL) has been suggested. Cytomegalovirus (CMV) has been reported as a leading agent of intrauterine infections resulting in some cases of congenital infections. The authors investigated the presence of prenatal CMV infection in children who later developed ALL. Guthrie cards were obtained from 48 children with ALL and 46 healthy children and were analyzed for the presence of CMV DNA by a real-time TaqMan PCR. CMV DNA was not detected in Guthrie cards from the children with ALL, from the control healthy children. The results show that prenatal CMV infection does not seem to be associated with later development of childhood ALL.

Posterior fontanelle sonography: an acoustic window into the neonatal brain.

BACKGROUND AND PURPOSE: Sonographic brain studies are classically performed through the anterior fontanelle, but visualization of posterior supratentorial and infratentorial structures is poor with this approach. Posterior fontanelle sonography is recommended for better assessment of these structures. Our purpose was 1) to determine whether sonography of the brain through the posterior fontanelle (PF) improves visualization of brain lesions when added to the routine anterior fontanelle (AF) approach and 2) to describe standardized PF coronal and sagittal sections. METHODS: In this prospective study (conducted from February 1999 to January 2001), PF sonography was added to AF sonography in 165 consecutive premature neonates with a birth weight of < 2000 g. Sonograms were recorded in digital format for re-evaluation at the end of the study. Lesions were grouped as congenital, infectious, hemorrhagic, or hypoxic-ischemic. The chi2 test for paired data and the kappa coefficient were used to compare diagnoses with AF alone and diagnoses with AF plus PF. RESULTS: PF sonography was performed in 164 of 165 patients. Results were normal in 86 and abnormal in 78. The single posterior fossa malformation detected in this series was best delineated with the PF approach. PF sonography increased the diagnostic rate of grade II hemorrhage by 32%. Cerebellar hemorrhage (two patients) and cerebellar abscesses (one patient) were diagnosed by using the PF approach. PF sonography did not contribute to the diagnosis of periventricular leukomalacia. CONCLUSION: Study of the neonatal brain with the addition of PF sonography afforded greater accuracy in detecting intraventricular hemorrhage compared with AF sonography alone, especially when the ventricle was not dilated. The PF approach better defines posterior fossa malformations.

Hearing assessment in infants and children: recommendations beyond neonatal screening.

Congenital or acquired hearing loss in infants and children has been linked with lifelong deficits in speech and language acquisition, poor academic performance, personal-social maladjustments, and emotional difficulties. Identification of hearing loss through neonatal hearing screening as well as objective hearing screening of all infants and children can prevent or reduce many of these adverse consequences. This report outlines the risk indicators for hearing loss, provides guidance for when and how to assess hearing loss, and addresses hearing referral resources for children of all ages.

Infant hearing loss: the necessity for early identification

There has been controversy in the health professions about the necessity for newborn infant hearing screening. It is well accepted that patient history or a birth that places the infant in the high-risk registry (HHR) can identify 50 of all infants born with permanent bilateral hearing loss. Two major factors which have been cited as reasons for not screening the well-baby nursery have been poor cost effectiveness and the lack of documentation as to the benefits derived from early identification and intervention. Recent technological developments and published data are presented which indicate that economical well-baby hearing screening can be done in any setting, and that the language acquisition of the infant is permanently affected if the intervention is not done in the first six months after birth

Stability of urinary HVA and VMA on filter paper.

The study examined the stability of HVA and VMA in 1-ml aliquots of a single urine sample stored on filter paper at different temperatures for 2 years. The results showed that HVA and VMA were stable in dried filter paper when stored at 4 degrees C or lower temperature. Storage at room temperature resulted in degradation of the sample.

Alfafetoproteína en suero materno para la detección de embarazos de alto riesgo / Maternal serum alphafetoprotein in the detection of high risk pregnancies

Objetivo: Evaluar la utilidad de la determinación de alfafetoproteína en suero materno (AFPSM) durante el segundo trimestre de la gestación, para identificar embarazos con riesgo aumentado para una gran variedad de padecimientos fetales y de la gestación, especialmente defectos de cierre del tubo neural y de la pared abdominal. Material y Métodos: Se estudiaron 120 mujeres embarazadas a quienes se les practicó una determinación de AFPSM durante el segundo trimestre de la gestación y se investigó la posible relación entre los niveles encontrados y la resolución del embarazo. Resultados: De las 15 pacientes con FPSM elevada, dos tuvieron un hijo con malformaciones congénitas, (trisomía 18 con mielomeningocele y otro con onfalocele). De las dos pacientes con AFPSM baja, una correspondió a un huevo muerto retenido. Respecto a otra patología obstétrica y/o fetal, no se encontraron diferencias significativas entre el grupo de AFPSM normal y anormal. Conclusión: La AFPSM fue útil en la detección de defectos de cierre del tubo neural y de pared abdominal, pero los resultados no son concluyentes para la detección de patología obstétrica