Utilização do Potencial Auditivo de Estado Estável em lactentes com baixo risco para perda auditiva / Use of Auditory Steady State Response in infants at low risk for hearing loss / Uso del potencial auditivo de estado estacionario en bebés con bajo riesgo de pérdida auditiva

Introdução: Com base na necessidade do diagnóstico audiológico e da intervenção precoce na vida de uma criança com perda auditiva, faz-se necessário a elaboração de protocolos de avaliação auditiva que forneçam o maior número de informações. Objetivo: Analisar um programa de saúde auditiva infantil com relação à adesão à triagem auditiva e procedimentos de diagnóstico. Metodologia: Pesquisa de caráter transversal com análise quantitativa. Realizado em três etapas: 1ª etapa: triagem auditiva de neonatos de alojamento conjunto; 2ª etapa: reteste das falhas; 3ª etapa: diagnóstico audiológico dos lactentes que falharam nas etapas anteriores com a utilização do Potencial Evocado Auditivo de Estado Estável (PEAEE) em conjunto com o Potencial Evocado Auditivo de Tronco Encefálico (PEATE). Resultados: Em 2019, 1.898 neonatos foram triados e destes, 287 (15.2%) falharam na primeira testagem em pelo menos uma orelha. Um total de 197 (10.3%) foram retestados e 14 (0,73%) falharam em pelo menos uma orelha. Dez (0,52%) neonatos retornaram para diagnóstico compondo uma amostra homogênea de neonatos nascidos a termo. Um neonato apresentou perda auditiva unilateral. O tempo necessário para coleta de dados no PEAEE foi de 20 minutos. Conclusão: O PEAEE pode ser considerado uma alternativa a ser utilizado na bateria de testes na avaliação audiológica infantil, juntamente com outros procedimentos, utilizando-se do princípio de verificação cruzada e adicionando uma informação valiosa, especialmente com relação às baixas frequências. (AU)

Introduction: Based on the need for audiological diagnosis and intervention as soon as possible in the life of a child with hearing loss, it is necessary to elaborate of hearing evaluation protocols with high efficiency, which provide the greatest amount of information. Aim: To analyze a pediatric hearing health program regarding their adherence to hearing screening, failure rates, and diagnostic procedures. Method: This is a cross-sectional, descriptive, quantitative study, and consisted of tree stages: Performed in three steps: 1st step: hearing screening of rooming-in neonates; 2nd stage: retest of failures; 3rd stage: audiological diagnosis of infants who failed in the previous stages using the Steady State Response (ASSR) together with the Brainstem Evoked Response Audiometry (BERA). Results: In 2019, 1,898 infants were submitted to the program, of whom 287 (15.2%) failed the screening in at least one of the ears. A total of 197 (10.3%) infants attended the retest and 14 (0.73%) failed the TOAE in at least one of the ears. Ten (0.52%) infants returned for diagnosis. The sample was homogeneously full-term children. One child showed unilateral HL. The average amount of time required to collect information in the ASSR was 20 minutes. Conclusion: For diagnosis, ASSR can be an alternative to be used in the battery of examinations in pediatric hearing assessment along with the other procedures, using the cross-check principle and adding valuable information, especially regarding the low frequencies. (AU)

Introducción: En base a la necesidad de diagnóstico audiológico e intervención lo antes posibles en la vida de un niño con pérdida auditiva, es necesario elaborar protocolos de evaluación auditiva de alta eficiencia, que proporcionan la mayor cantidad de información. Objetivo: Analizar un programa de salud auditiva infantil en cuanto a la adherencia al tamizaje auditivo, tasa de fracaso y procedimientos diagnósticos. Metodología: Investigación transversal con análisis cuantitativo, Realizado en tres pasos: 1er paso: tamizaje auditivo de los neonatos en alojamiento conjunto; 2ª etapa: retest de fallas; 3ª etapa: diagnóstico audiológico de los lactantes que fracasaron en las etapas anteriores utilizando el Potencial Evocado Auditivo de Estado Estacionario junto con el Potencial Evocado Auditivo de Tallo Cerebral. Resultados: Em 2019, se cribaron 1,898 neonatos y de estos, 287 (15,2%) no pasaron la primera prueba en al menos un oído. Un total de 197 (10,3) fueron reevaluados y 14 (0,73%) fallaron en al menos un oído. Diez (0,52%) neonatos regresaron para diagnóstico, conformando una muestra homogénea de neonatos a término, con una edad gestacional media de 39 semanas y dos días. Un neonato tuvo pérdida auditiva unilateral. El tiempo de recogida de los resultados en el ASSR fue de 20 min. Conclusión: Para el diagnóstico, la ASSR puede considerarse una alternativa para ser utilizada en la batería de pruebas en la evaluación audiológica infantil, junto con otros procedimientos, utilizando el principio de verificación cruzada y agregando información valiosa, especialmente en lo que se refiere a las bajas frecuencia. (AU)

Determinación de valores de corte de 17 hidroxiprogesterona ajustados por edad gestacional para la pesquisa neonatal de la hiperplasia suprarrenal congénita / Assessment of gestational age-adjusted 17-hydroxyprogesterone cut-off values for neonatal screening of congenital adrenal hyperplasia

La pesquisa neonatal de hiperplasia suprarrenal congénita se realiza mediante la determinación de 17 hidroxiprogesterona (17OHP) en gotas de sangre seca en papel de filtro. Los bebés prematuros presentan valores más elevados que los bebés de término, siendo de utilidad contar con límites de corte apropiados. Nuestro objetivo fue actualizar los valores de corte de 17OHP ajustados por edad gestacional para la metodología en uso a nivel nacional por las jurisdicciones asistidas por el "Programa Nacional de Fortalecimiento de la Detección Precoz de Enfermedades Congénitas". La 17OHP se determinó utilizando el kit comercial de enzimo-inmunoanálisis (ELISA competitivo), Elizen Neonatal 17OHP Screening (Zentech, Bélgica). Se obtuvieron límites de corte utilizando percentiles de la distribución de los valores de 17OHP para cada edad gestacional. La sensibilidad obtenida fue 100%, especificidad 98,76 %, tasa de falsos positivos 1,24 % y el valor predictivo positivo 1,12 %. Destacamos la importancia de disponer de límites de corte adecuados a la población. La armonización de los mismos permitirá resultados comparables entre los programas regionales de pesquisa neonatal (AU)

Newborn screening for congenital adrenal hyperplasia is performed by the measurement of 17-hydroxyprogesterone (17OHP) in dried blood spots on filter paper. Premature infants have higher values than full-term infants, and appropriate cutoff values are useful. Our aim was to update the cut-off values of 17OHP adjusted for gestational age for the methodology used at a national level in regions assisted by the "National Program for Strengthening the Early Detection of Congenital Diseases". 17OHP was determined using the commercial enzyme-linked immunosorbent assay (competitive ELISA) kit, Elizen Newborn 17OHP Screening (Zentech, Belgium). Cut-off values were obtained using percentiles of the distribution of 17OHP values for each gestational age. Sensitivity was 100%, specificity 98.76%, false positive rate 1.24%, and positive predictive value 1.12%. It is important to have cut-off values that are adjusted to the population. Harmonization will allow for the comparison of results among regional newborn screening programs (AU)

Results of combined newborn hearing and deafness gene screening in Yuncheng area of Shanxi Province / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical significance of combined newborn hearing and deafness gene screening in Yuncheng area of Shanxi Province.@*METHODS@#Results of audiological examinations, including transient evoked otoacoustic emission and automatic discriminative auditory brainstem evoked potentials, for 6 723 newborns born in Yuncheng area from January 1, 2021 to December 31, 2021, were retrospectively analyzed. Those who failed one of the tests were considered to have failed the examination. A deafness-related gene testing kit was used to detect 15 hot spot variants of common deafness-associated genes in China including GJB2, SLC26A4, GJB3, and mtDNA12S rRNA. Neonates who had passed the audiological examinations and those who had not were compared using a chi-square test.@*RESULTS@#Among the 6 723 neonates, 363 (5.40%) were found to carry variants. These have included 166 cases (2.47%) with GJB2 gene variants, 136 cases (2.03%) with SLC26A4 gene variants, 26 cases (0.39%) with mitochondrial 12S rRNA gene variants, and 33 cases (0.49%) with GJB3 gene variants. Among the 6 723 neonates, 267 had failed initial hearing screening, among which 244 had accepted a re-examination, for which 14 cases (5.73%) had failed again. This has yielded an approximate prevalence of hearing disorder of 0.21% (14/6 723). Among 230 newborns who had passed the re-examination, 10 (4.34%) were found to have carried a variant. By contrast, 4 out of the 14 neonates (28.57%) who had failed the re-examination had carried a variant, and there was a significant difference between the two groups (P < 0.05).@*CONCLUSION@#Genetic screening can provide an effective supplement to newborn hearing screening, and the combined screening can provide a best model for the prevention of hearing loss, which can enable early detection of deafness risks, targeted prevention measures, and genetic counseling to provide accurate prognosis for the newborns.

A prospective study of genetic screening of 2 060 neonates by high-throughput sequencing / 中华医学遗传学杂志

OBJECTIVE@#To assess the value of genetic screening by high-throughput sequencing (HTS) for the early diagnosis of neonatal diseases.@*METHODS@#A total of 2 060 neonates born at Ningbo Women and Children's Hospital from March to September 2021 were selected as the study subjects. All neonates had undergone conventional tandem mass spectrometry metabolite analysis and fluorescent immunoassay analysis. HTS was carried out to detect the definite pathogenic variant sites with high-frequency of 135 disease-related genes. Candidate variants were verified by Sanger sequencing or multiplex ligation-dependent probe amplification (MLPA).@*RESULTS@#Among the 2 060 newborns, 31 were diagnosed with genetic diseases, 557 were found to be carriers, and 1 472 were negative. Among the 31 neonates, 5 had G6PD, 19 had hereditary non-syndromic deafness due to variants of GJB2, GJB3 and MT-RNR1 genes, 2 had PAH gene variants, 1 had GAA gene variants, 1 had SMN1 gene variants, 2 had MTTL1 gene variants, and 1 had GH1 gene variants. Clinically, 1 child had Spinal muscular atrophy (SMA), 1 had Glycogen storage disease II, 2 had congenital deafness, and 5 had G6PD deficiency. One mother was diagnosed with SMA. No patient was detected by conventional tandem mass spectrometry. Conventional fluorescence immunoassay had revealed 5 cases of G6PD deficiency (all positive by genetic screening) and 2 cases of hypothyroidism (identified as carriers). The most common variants identified in this region have involved DUOX2 (3.93%), ATP7B (2.48%), SLC26A4 (2.38%), GJB2 (2.33%), PAH (2.09%) and SLC22A5 genes (2.09%).@*CONCLUSION@#Neonatal genetic screening has a wide range of detection and high detection rate, which can significantly improve the efficacy of newborn screening when combined with conventional screening and facilitate secondary prevention for the affected children, diagnosis of family members and genetic counseling for the carriers.

Analysis of clinical features, biochemical indices and genetic variants among children with Short/branched-chain acyl-CoA dehydrogenase deficiency detected by neonatal screening / 中华医学遗传学杂志

OBJECTIVE@#To investigate the clinical manifestations, biochemical abnormalities and pathogenic variants among children with Short/branched-chain acyl-CoA dehydrogenase (SBCAD) deficiency detected by neonatal screening.@*METHODS@#A total of 2 730 852 newborns were screened from January 2016 to December 2021 with liquid chromatography tandem mass spectrometry. Suspected SBCAD deficiency patients were diagnosed by urine organic acid analysis and high-throughput gene sequencing analysis. The clinical, biochemical and genetic changes of the confirmed cases were analyzed, in addition with guidance for diet and life management, L-carnitine supplement, and survey of growth and intellectual development.@*RESULTS@#Twelve cases of SBCAD deficiency were diagnosed, which yielded a prevalence of 1/227 571. The lsovaleryl carnitine (C5) of primary screening blood samples was between 0.6 and 2.1 µmol/L, all exceeded the normal range. C5/acety1 carnitine (C2) was between 0.02 and 0.12, with 6 cases exceeding the normal range. C5/propionyl carnitine (C3) was between 0.1 and 1.16, with 5 cases exceeding the normal range. Free carnitine (C0) was between 18.89 and 58.12 µmol, with 1 case exceeding the normal range. Three neonates with abnormal screening results were recommended to have appropriate restriction for protein intake and two were given L-carnitine. During follow-up, their C5 has ranged from 0.22 to 2.32 µmol/L, C5/C2 has ranged from 0.01 to 0.31, C5/C3 has ranged from 0.14 to 1.7. C5 or C5/C2 and C5/C3 were transiently normal in all patients except for case 8 during the neonatal screening and follow-up. C0 was 17.42 ∼ 76.83 µmol/L Urine organic acid analysis was carried out in 9 of the 12 cases, and 2-methylbutyroglycine was elevated in 8 cases. Urine organic acid analysis was carried out in 9 cases, and 2-methylbutyrylglycine was increased in 8 cases. Genetic analysis was carried out for 11 children, and in total 6 ACADSB gene variants were identified, which included 4 missense variants (c.655G>A, c.923G>A, c.461G>A, c.1165A>G), 1 frameshift variant (c.746del) and 1 nonsense variant (c.275C>G). Among these, the C.461G>A variant was unreported previously. The most common variants were c.1165A>G (40.9%) and C.275C>G (22.7%). The patients were followed up for 18 days to 55 months. Only one patient had mental retardation, with the remainders having normal physical and mental development.@*CONCLUSION@#SBCAD deficiency is a rare disease. The detection rate of newborn screening in this study was 1/227 571. Early intervention can be attained in most asymptomatic patients through neonatal screening. In this study, the common gene variants are c.1165A>G and c.275C>G.

Tamizaje auditivo universal neonatal en Hospital Clínico La Florida Dra. Eloísa Díaz Insunza: Experiencia 2015-2021 / Universal newborn hearing screening at Hospital Clínico La Florida Dra. Eloísa Díaz Insunza: Experience 2015-2021

Introducción: La hipoacusia congénita es una patología frecuente entre los recién nacidos con gran impacto en su calidad de vida si no es diagnosticada y tratada precozmente. Para su pesquisa, se recomienda, internacionalmente, el tamizaje auditivo universal neonatal (TAUN), que desde 2014 se aplica en el Hospital Clínico La Florida Dra. Eloísa Díaz Insunza (HLF). Objetivo: Describir la experiencia del programa de TAUN del Servicio de Otorrinolaringología HLF. Material y Método: Estudio descriptivo, retrospectivo. Se incluyó a todos los recién nacidos vivos (RNV) del establecimiento entre 2015 y 2021, evaluados de acuerdo con el protocolo del programa. Resultados: Fueron evaluados 17.804 RNV. Se obtuvo una cobertura de 97,1% y tasa de referencia de 0,98%. Se confirmaron a 21 pacientes con hipoacusia sensorioneural (HSN), obteniéndose una tasa de HSN de 1,5 cada 1.000 RNV. Conclusión: La tasa de incidencia de HSN congénita fue similar a la estimada a nivel mundial. El programa de TAUN HLF cumple con estándares internacionales en cuanto a cobertura, tiempo de evaluación del tamizaje y tasa de referencia. El trabajo multidisciplinario, mejoría de tecnología y registro adecuado de pacientes, son las principales fortalezas. La dificultad de seguimiento durante horario inhábil y presencia de sólo un profesional con dedicación exclusiva, son aspectos a perfeccionar.

Introduction: Congenital hearing loss is a frequent pathology among newborns with great impact on their quality of life if it is not diagnosed and treated early. The Joint Committee on Infant Hearing recommends universal newborn hearing screening (UNHS) and has been applied at the Hospital Clínico La Florida Dra. Eloísa Díaz Insunza (HLF) since 2014. Aim: To describe the experience of UNHS program at the Otolaryngology Service of the HLF. Material and Method: Descriptive, retrospective study, including all newborns of the HLF between 2015 and 2021. They were evaluated according to the protocol proposed in the program. Results: 17804 newborns were evaluated. Coverage of 97,1% and a referral rate of 0,98% were obtained. Twenty-one patients with sensorineural hearing loss (SNHL) were confirmed, obtaining a SNHL rate of 1.5 per 1000 live births. Conclusion: The incidence rate of congenital SNHL is similar to that estimated worldwide. The UNHS program in HLF complies with international standards in terms of coverage, timing and referral rates. Multidisciplinary work, improved technology and adequate patient registration are the main strengths of the program. The difficulty of follow-ups during the weekends and the presence of only one full-time professional are aspects that can be improved.

Resultado do PEATE e Resposta Auditiva de Estado Estável em lactentes com e sem falha na TANU / Results of BAEP and Auditory Steady State Response in infants with and without UNHS failure / Resultados del PEATC e Respuesta Auditiva del Estado Estable en lactantes con y sin falla de CANU

Introdução: A triagem auditiva neonatal universal (TANU) é realizada por meio do exame de potencial evocado auditivo de tronco encefálico (PEATE), na população com indicador de risco para deficiência auditiva. A resposta auditiva de estado estável (RAEE) é uma técnica objetiva e automática de determinação dos limiares auditivos por frequência específica, porém ainda pouco explorada antes da alta hospitalar. Objetivo: analisar os resultados obtidos no exame de PEATE e RAEE em lactentes com indicadores de risco para deficiência auditiva, antes da alta hospitalar, com e sem falha na TANU. Métodos: Estudo observacional analítico prospectivo feito em lactentes com risco para a deficiência auditiva e que realizaram o PEATE e a RAEE na mesma sessão. Resultados: Atenderam ao critério de inclusão 66 lactentes, de ambos os gêneros, idade mediana de 1,2 meses, idade gestacional média de 31 semanas, peso médio ao nascimento 1601 g. Tiveram PEATE normal, 53 (80%) lactentes, denominados de G1 e 13 (20%) tiveram PEATE alterado, denominados de G2. Os limiares eletrofisiológicos da RAEE foram estatisticamente menores nos lactentes de G1. Conclusão: Houve relação entre os achados dos exames de PEATE e RAEE em lactentes de risco para deficiência auditiva, quando realizado antes da alta hospitalar. A mediana dos limiares eletrofisiológicos da RAEE foi menor para os lactentes que tiveram PEATE normal e maior para aqueles que tiveram PEATE alterado na TANU.

Introduction: Universal neonatal hearing screening (UNHS) is performed by examining brainstem auditory evoked potential (BAEP), in the population with a risk indicator for hearing loss. The auditory steady-state response (ASSR) is an objective and automatic technique for determining hearing thresholds by specific frequency, but still little explored before hospital discharge. Objective: to analyze the results obtained in the BAEP and RAEE tests in infants with risk indicators for hearing loss, before hospital discharge, with and without failure in UNHS. Methods: Prospective analytical observational study carried out in infants at risk for hearing loss and who underwent BAEP and ASSR in the same session. Results: 66 infants attempted the inclusion criteria, of both genders, the median age was 1.2 months, the mean gestational age was 31 weeks and the mean weight at birth was 1601 g. 53 (80%) infants, called G1, had normal BAEP, and 13 (20%) had abnormal BAEP, called G2. The electrophysiological thresholds of ASSR were statistically lower in infants of G1. Conclusion: There was a relationship between the findings of the BAEP and ASSR exams in infants at risk for hearing loss, when performed before hospital discharge. The median of the ASSR electrophysiological thresholds was lower for the infants who had normal BAEP and higher for those who had abnormal BAEP in the UNHSque tenían un PEATC normal y mayor para aquellos que tenían un PEATC alterado en CANU.

Introducción: El cribado auditivo neonatal universal (CANU) se realiza examinando el potencial evocado auditivo del tronco cerebral (PEAC), en la población con un indicador de riesgo de hipoacusia. La respuesta auditiva en estado estable (RAEE) es una técnica objetiva y automática para determinar los umbrales de audición por frecuencia específica, pero aún poco explorada antes del alta hospitalaria. Objetivo: analizar los resultados obtenidos en la exploración de PEAC y RAEE en lactantes con indicadores de riesgo de hipoacusia, antes del alta hospitalaria, con y sin fallo en CANU. Metodos: Estudio observacional analítico prospectivo realizado en lactantes con riesgo de hipoacusia a los que se les realizó PEATC y RAEE en una misma sesión. Resultados: Los criterios de inclusión cumplieron con 66 lactantes, de ambos sexos, edad media de 1,2 meses, edad gestacional media de 31 semanas, peso medio al nacer 1601 g. Tenían un PEATC normal, 53 (80%) lactantes, llamados G1 y 13 (20%) tenían un PEATC anormal, llamado G2. Los umbrales electrofisiológicos de RAEE fueron estadísticamente más bajos en lactantes del G1. Conclusión: Hubo una relación entre los hallazgos de los exámenes PEATC y RAEE en lactantes con riesgo de hipoacusia, cuando se realizaron antes del alta hospitalaria. La mediana de los umbrales electrofisiológicos de RAEE fue menor para los lactantes.

Association between failure in otoacoustic emissions and risk indicator for hearing loss / Associação entre falha nas emissões otoacústicas e indicador de risco para a perda auditiva

ABSTRACT Purpose: to describe the results of a neonatal hearing health program and verify whether there is an association between the presence of risk indicators for hearing loss and failure in the tests and diagnosis. Methods: a one-cohort, observational, retrospective study with secondary data contained in a spreadsheet concerning the family's sociodemographic condition, clinical history, and examination results of 7,800 participants who were submitted to hearing screening between 2010 and 2016. Absolute frequency and percentages were used in the description of the first and second stages. In the association between risk indicators and failures in the otoacoustic emissions, the odds ratio, confidence interval, and significance level at 0.5% were used. Results: the risk indicators in 8 out of the 12 infants presented with hearing loss were ototoxic medication and intensive care unit (ICU) stay, whereas the likelihood of failure in the otoacoustic emissions occurred along with 11 indicators. The likelihood of a diagnosis of hearing loss was 13 times greater when there was a risk indicator, 18 times greater when an ototoxic medication had been used, and 16.62 times greater when they stayed in ICUs. Conclusion: the results show that knowing the indicators leads to considering the actions the team in charge should take.

RESUMO Objetivo: descrever os resultados de um programa de saúde auditiva neonatal e verificar se há associação entre presença de indicador de risco para perda auditiva e falhas nos testes e no diagnóstico. Métodos: trata-se do estudo de uma coorte, observacional e retrospectiva, com dados secundários contidos em planilha eletrônica sobre condições sociodemográficas da família, história clínica e resultados dos exames de 7.800 participantes que realizaram a Triagem Auditiva, de 2010 a 2016. Na descrição da primeira e segunda etapa, utilizou-se frequência absoluta e valores percentuais. Na associação entre indicador de risco com falhas nas EOA, utilizaram-se Odds Ratio, Intervalo de Confiança e nível de significância 0,5%. Resultados: dos 12 lactentes com perda auditiva, oito apresentaram como indicador de risco, a medicação ototóxica e permanência em UTI, sendo que a chance de falhar nas EOA ocorreu com onze indicadores. A chance do diagnóstico de perda auditiva foi 13 vezes maior quando há indicador de risco, 18 vezes maior quando usou medicação ototóxica e 16,62 vezes maior com permanência em UTI. Conclusão: os resultados mostram que conhecer os indicadores levará à reflexão de ações a serem adotadas pela equipe responsável.

Molecular analysis of the CYP21A2 gene in dried blood spot samples

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder due to a deficiency of enzymes involved in cortisol biosynthesis. In more than 90% of cases, CAH is secondary to deleterious mutations in the CYP21A2 gene leading to 21-hydroxilase deficiency (21OHD). The CYP21A2 gene is located on the short arm of chromosome 6 (6p21·3) and encodes the cytochrome P450C21 enzyme. Neonatal screening programs detect the classic forms of CAH-21OHD quantifying 17OH-progesterone in dried blood spots (DBS). This test is very sensitive, but it has a low specificity, requiring a second sample to confirm the result. In these cases, a second-tier test in the same sample may be useful. Our aim was to evaluate a DNA extraction method from DBS and assess the performance of such DNA in the molecular analysis of the CYP21A2 gene mutations. Twelve individuals, who presumably had CAH based on the initial neonatal screening results, were analyzed using DNA extracted from freshly collected blood on EDTA and DBS. The CYP21A2 gene was analyzed by automated sequencing of all exons and intron boundaries and MLPA analysis in DBS. Molecular analysis results from both extraction methods were compared. In this study, we show that DNA extracted from neonatal screening DBS is a useful tool to define CYP21A2 gene mutations in 21-OHD diagnostic confirmation for the newborn screening program and that its results are comparable to traditional genotyping.

La hiperplasia suprarrenal congénita (HSC) es un desorden autosómico recesivo producido por la deficiencia de alguna de las enzimas involucradas en la biosíntesis de cortisol. Más del 90% se debe a mutaciones en el gen CYP21A2 que genera deficiencia de 21 hidroxilasa (21OHD). Este gen se encuentra en el brazo corto del cromosoma 6 (6p21·3) y codifica para la enzima citocromo P450C21. Los programas de pesquisa neonatal detectan la forma clásica de la HSC-21OHD cuantificando 17OH-progesterona en gota de sangre en papel de filtro (GSPF). Este test es muy sensible, pero tiene baja especificidad , por lo que se utiliza una segunda muestra para confirmar el resultado. En estos casos, una segunda determinación en la misma muestra podría ser de utilidad. Nuestro objetivo fue evaluar el método de extracción de ADN y posterior análisis molecular del gen CYP21A2 en muestras de GSPF. Analizamos doce individuos presumiblemente afectados por HSC en la pesquisa neonatal usando ADN extraído de sangre fresca recolectada sobre EDTA y de GSPF. Realizamos el análisis del gen CYP21A2 mediante secuenciación automática de todos los exones y regiones intrónicas flanqueantes y MLPA en GSPF, y comparamos los resultados con ambos métodos de extracción. En este estudio demostramos que el ADN extraído de GSPF es una herramienta muy útil para analizar las mutaciones del gen CYP21A2 en la confirmación diagnóstica de 21-OHD para los programas de pesquisa neonatal y que los resultados son comparables con la genotipificación tradicional.

Implementation of diagnostic screening for congenital heart disease in Hidalgo, Mexico / Implementación del tamizaje diagnóstico de cardiopatías congénitas en Hidalgo, México

Abstract Objective: Implementing screening through pulse oximetry (PO) and a knowledge management model (KMM) for early detection of life-threatening congenital heart disease (CHD) in the neonatal period. Material and methods: Pilot study of PO implementation supported by clinical criteria performed in newborns at two public hospitals of Hidalgo State. Those who tested positive were referred for echocardiography and those diagnosed with critical CHD (CCHD) were referred to specialized hospitals for treatment. Results: 1748 newborns were screened: 29 positive, 62% with CHD and 13.8% with CCHD, one death, three referrals to palliative treatment. Conclusion: PO as a method of screening helps in early diagnosis of CHD added to clinical and echocardiography studies. KMM fosters innovation and resource management.

Resumen Objetivo: Implementar el tamizaje mediante la oximetría de pulso (OP) y un modelo de gestión del conocimiento (MGC) para la detección oportuna de cardiopatías congénitas (CC) que amenazan la vida en el período neonatal. Material y métodos: Estudio piloto de implementación de OP apoyado en criterios clínicos, realizado en recién nacidos (RN) de dos hospitales públicos de Hidalgo. Los pacientes que resultaron positivos fueron objeto de ecocardiografía (EC) y los diagnosticados con cardiopatías congénitas críticas (CCC) se refirieron a tratamiento. Resultados: Se tamizó a 1,748 RN (29 positivos), CC en 62% y CCC en 13.8 %, 1 muerte y 3 programados para operación paliativa. Conclusiones: La OP ayuda en el diagnóstico de CC en combinación con criterios clínicos y EC. Un MGC favorece la innovación y la gestión de recursos.

Saturación de oxígeno, frecuencia cardiaca y respiratoria en recién nacidos a término en poblaciones de altura / Oxygen saturation, heart and respiratory frequency of term newborns in high-altitude populations

Introducción: La adaptación a la vida extrauterina de los recién nacidos es importante, especialmente en poblaciones de altura donde las características son diferentes a poblaciones a nivel del mar. Objetivos: Determinar la correlación entre saturación de oxígeno, frecuencia cardiaca y respiratoria durante los primeros 720 minutos de vida en recién nacidos a término a 3 400 metros sobre el nivel del mar. Métodos: Estudio observacional, prospectivo. Se incluyó a recién nacidos de parto eutócico a término del servicio de neonatología de un hospital de Cusco-Perú durante octubre y diciembre del 2016. Se evaluó la saturación de oxígeno, frecuencia cardiaca y respiratoria a los 5, 30, 120, 360, 480 y 720 minutos después del nacimiento. Se realizó un análisis descriptivo y se calcularon las correlaciones entre las variables utilizando el coeficiente de Correlación de Pearson. Se consideró significativos los valores p<0,05. Resultados: La media de saturación de oxígeno, frecuencia cardiaca y frecuencia respiratoria fue estable a las dos horas. Se obtuvo una correlación significativa entre la frecuencia cardiaca y saturación de oxígeno a los 5, 30, 120, 360 y 720 minutos. La frecuencia respiratoria y saturación de oxígeno se correlacionó significativamente a los 5, 30, 480 y 720 minutos. Conclusiones: La correlación entre la saturación de oxígeno, frecuencia cardiaca y frecuencia respiratoria es adecuada en distintos periodos. Este estudio contribuye a conocer mejor la adaptación a la vida extrauterina del recién nacido en esta población de altura(AU)

Introduction: Newborns adaptation to extrauterine life is important, especially in high altitude populations where the characteristics are different from sea level populations. Objectives: To estimate the correlation between oxygen saturation, heart and respiratory frequency during the first 720 minutes of life in term newborns at 3 400 meters above sea level. Methods: An observational, prospective study was performed. Newborns from eutocic delivery at term that were born during October and December 2016 in the neonatology service at Cusco-Peru Hospital were included in the study. Oxygen saturation, heart frequency and respiratory frequency were assessed at 5, 30, 120, 360, 480 and 720 minutes after birth. A descriptive analysis was performed and the correlations among the variables were calculated using Pearson's correlation coefficient test. Values p <0.05 were considered significant. Results: Mean oxygen saturation, heart rate and respiratory rate were stable at two hours. A significant correlation was obtained between heart rate and oxygen saturation at 5, 30, 120, 360 and 720 minutes. Respiratory frequency and oxygen saturation correlated significantly at 5, 30, 480 and 720 minutes. Conclusions: Correlation between oxygen saturation, heart rate and respiratory rate are adequate in different periods. This study contributes to better understand the adaptation of newborns in these high altitude populations(AU)

Teste do pezinho: condições materno-fetais que podem interferir no exame em recém-nascidos atendidos na unidade de terapia intensiva / Heel prick test: maternal-fetal conditions that may have an effect on the test results in newborns admitted to the intensive care unit

RESUMO Objetivo: Descrever as características do teste do pezinho dos neonatos atendidos na unidade de terapia intensiva de um hospital universitário, bem como verificar se existiam condições maternas e fetais que pudessem interferir no resultado desse exame. Métodos: Estudo retrospectivo longitudinal de abordagem quantitativa que avaliou 240 prontuários médicos. Os dados coletados foram submetidos à análise estatística descritiva. Resultados: Houve predomínio de gestantes com idades entre 20 a 34 anos, com Ensino Médio completo e que realizaram mais de seis consultas pré-natais. As intercorrências ou patologias maternas ocorreram em 60% das mães, e a maioria (67,5%) não apresentou nenhuma condição que pudesse interferir no resultado do teste do pezinho. A maioria dos neonatos era prematura e exibiu baixo peso ao nascimento. Cerca de 90% dos neonatos exibiram condições que poderiam influenciar no exame, principalmente prematuridade, nutrição parenteral e transfusão sanguínea. Dos 240 neonatos, 25% apresentaram resultado alterado no teste do pezinho, sobretudo para fibrose cística e hiperplasia adrenal congênita. Conclusão: Existem condições maternas e neonatais que podem interferir no teste do pezinho e, nesse sentido, sua investigação é imprescindível, visando direcionar ações que promovam a saúde materno-infantil e consolidem a triagem neonatal nessa população.

ABSTRACT Objective: To describe the characteristics of the heel prick test in newborns admitted to the intensive care unit of a university hospital as well as to determine whether maternal and fetal conditions could have affected the results of this test. Methods: Retrospective longitudinal study with a quantitative approach that evaluated 240 medical records. The data collected were analyzed by descriptive statistical analysis. Results: There was a predominance of pregnant women aged 20 to 34 years who had a complete secondary education and who had more than six prenatal care visits. Maternal complications or pathologies occurred in 60% of the mothers, and most (67.5%) did not present any condition that could have affected the heel prick test results. Most newborns were premature and exhibited low birth weight. Approximately 90% of newborns exhibited conditions that could have influenced the test, especially prematurity, parenteral nutrition and blood transfusion. Of the 240 newborns, 25% had abnormal heel prick test results, especially for cystic fibrosis and congenital adrenal hyperplasia. Conclusion: There are maternal and neonatal conditions that can affect heel prick test results, and therefore, their investigation is essential, aiming to guide measures that promote mother and child health and consolidate neonatal screening in this population.

Clinical and molecular profile of newborns with confirmed or suspicious congenital adrenal hyperplasia detected after a public screening program implementation / Perfil clínico e molecular de recém-nascidos com suspeita ou confirmação de hiperplasia adrenal congênita após a implementação de um programa público de triagem neonatal

Abstract Objective: To describe the results obtained in a neonatal screening program after its implementation and to assess the clinical and molecular profiles of confirmed and suspicious congenital adrenal hyperplasia cases. Methods: A cross-sectional study was conducted. Newborns with suspected disease due to high 17-hydroxyprogesterone levels and adjusted for birth weight were selected. Classical congenital adrenal hyperplasia (salt-wasting and simple virilizing forms) was diagnosed by an increase in 17-hydroxyprogesterone levels as confirmed in the retest, clinical evaluation, and genotype determined by SNaPshot and multiplex ligation-dependent probe amplification. Results: After 24 months, 15 classic congenital adrenal hyperplasia cases were diagnosed in a total of 217,965 newborns, with an estimated incidence of 1:14,531. From 132 patients, seven non-classical and 14 heterozygous patients were screened for CYP21A2 mutations, and 96 patients presented false positives with wild type CYP21A2. On retest, increased 17-hydroxyprogesterone levels were found in classical congenital adrenal hyperplasia patients and showed significant correlation with genotype-related classical genital adrenal hyperplasia. The most frequent mutations were IVS2-13A/C>G followed by gene deletion or rearrangement events in the classical form. In non-classical and heterozygous diseases, p.Val282Leu was the most common mutation. Conclusions: The results underscore the effectiveness of congenital adrenal hyperplasia neonatal screening in the public health system and indicate that the adopted strategy was appropriate. The second sample collection along with genotyping of suspected cases helped to properly diagnose both severe and milder cases and delineate them from false positive patients.

Resumo Objetivo: Descrever os resultados obtidos em um programa de triagem neonatal após sua implementação e avaliar os perfis clínicos e moleculares de casos confirmados e suspeitos de hiperplasia adrenal congênita. Métodos: Foi feito um estudo transversal. Recém-nascidos com suspeita da doença devido aos altos níveis de 17-alfa-hidroxiprogesterona e ajustados pelo peso ao nascer foram selecionados. A hiperplasia adrenal congênita clássica (forma perdedora de sal e forma virilizante simples) foi diagnosticada por um aumento nos níveis de 17-alfa-hidroxiprogesterona confirmado no reteste, avaliação clínica e genótipo determinado com o uso do ensaio SNaPshot e amplificação multiplex de sondas dependente de ligação. Resultados: Após 24 meses, 15 casos clássicos de hiperplasia adrenal congênita foram diagnosticados em 217.965 recém-nascidos, com uma incidência estimada de 1:14.531. De 132 pacientes, sete não clássicos e 14 heterozigotos foram submetidos à triagem para mutações no gene CYP21A2 e 96 pacientes apresentaram resultados falso-positivos com CYP21A2 do tipo selvagem. No reteste, níveis aumentados de 17-alfa-hidroxiprogesterona foram encontrados em pacientes com hiperplasia adrenal congênita clássica e mostraram correlação significativa com HAC clássica relacionada ao genótipo. As mutações mais frequentes foram IVS2-13A/C>G, seguidas de deleção gênica ou eventos de rearranjo na forma clássica. Em casos de doenças não clássicas e heterozigose, a mutação p.Val282Leu foi a mais comum. Conclusões: Os resultados ressaltam a eficácia da triagem neonatal para a hiperplasia adrenal congênita no sistema público de saúde e indicam que a estratégia adotada foi adequada. A segunda coleta de amostras, juntamente com a genotipagem dos casos suspeitos, ajudou a diagnosticar adequadamente os casos graves e mais leves e diferenciá-los de pacientes com resultado falso-positivo.

Acurácia da determinação da idade gestacional no Sistema de Informações sobre Nascidos Vivos (SINASC): um estudo de base populacional / Accuracy of gestational age assessment in Brazilian Information System on Live Birth (SINASC): a population study / Precisión en la determinación de la edad gestacional en el Sistema de Información sobre Nacidos Vivos (SINASC): un estudio de base poblacional

Resumo: A prevalência de nascimento pré-termo tem apresentado uma tendência crescente em vários países, inclusive naqueles desenvolvidos. Estudos no Brasil relatam que o Sistema de Informações sobre Nascidos Vivos (SINASC), até 2010, subestimava a prevalência de nascimentos pré-termo, quando comparada aos estudos baseados em dados primários. A partir de 2011, a idade gestacional ao nascer no SINASC tem sido calculada, quando disponível, pela data da última menstruação (DUM). O objetivo foi avaliar a acurácia da determinação da idade gestacional gerada pela DUM, comparando com a de outros estimadores, e correlacioná-la com o peso ao nascer. Estudo de base populacional com dados do SINASC disponíveis no Departamento de Informática do SUS entre 2011 e 2015. As definições de prematuridade, baixo peso e asfixia ao nascer foram aquelas determinadas na literatura. A adequação do peso ao nascer com a idade gestacional foi calculada baseando-se nas curvas de Fenton e Intergrowth-21. Compararam-se as médias de peso pela presença ou não de prematuridade. A estimação da idade gestacional foi realizada pela DUM em 58,5%, e 41,5% utilizaram outro método. Encontrou-se que a proporção de prematuridade foi de 12% no grupo DUM e 8,4% no grupo outro método, já o baixo peso ao nascer foi de 6,5% e 8,4%, respectivamente. A média de peso dos prematuros no grupo DUM foi maior. O uso da DUM como estimador da idade gestacional superestimou a proporção de peso maior ou igual a 2.500g nos prematuros, o que não parece compatível com a distribuição esperada para esta faixa. A DUM favoreceu a "correção" da prematuridade para os parâmetros comparáveis aos de estudos com dados primários, embora as distorções encontradas entre idade gestacional e peso ao nascer possam indicar que ainda existem problemas com este estimador.

Abstract: The prevalence of preterm births has shown a growing trend in many countries, including developed ones. Studies in Brazil have shown that the Information System on Live Births (SINASC, in Portuguese), until 2010, underestimated the prevalence of preterm births, when compared with studies based on primary data. Starting in 2011, gestational age at birth has been calculated in SINASC according to the last menstrual period (LMP), when available. This study sought to evaluate the accuracy of the gestational age assessment using LMP, compared with two other estimates, and correlate it with birth weight. This is a population study with data from SINASC available from Brazilian Health Informatics Department between 2011 and 2015. Definitions of preterm birth, low birth weight and birth asphyxia were taken from the literature. Adequacy of birth weigh to gestational age was calculated based on Fenton and Intergrowth-21 curves. We compared weight means according to the presence or lack of preterm birth. gestational age assessment was based on LMP in 58.5% and 41.5% used another method. We found that the preterm proportion was 12% in the LMP group and 8.4% in the other method group, while low birth weight was 6.5% and 8.4%, respectively. Mean weight of preterm infants was higher in the LMP group. Use of LMP as a gestational age estimator overestimated the proportion of weight equal to or higher than 2,500g among preterm infants, which does not seem compatible with the expected distribution for this group. LMP favored "correction" of prematurity for the parameters that are comparable to those of primary data studies, though the distortions we found between gestational age and birth weigh may indicate that there are still problems with this estimator.

Resumen: La prevalencia de nacimiento pretérmino está presentando una tendencia creciente en varios países, incluso en los desarrollados. Estudios en Brasil reflejan que el Sistema de Información sobre Nacidos Vivos (SINASC), hasta 2010, subestimaba la prevalencia de nacimientos pretérmino, cuando se compara con los estudios basados en datos primarios. A partir de 2011, la edad gestacional al nacer ha sido calculada en el SINASC, cuando se encontraba disponible, mediante la fecha de la última menstruación (DUM). El objetivo fue evaluar la precisión en la determinación de la edad gestacional generada por los DUM, comparándola con la de otros estimadores, y correlacionándola con el peso al nacer. Se trata de un estudio de base poblacional con datos del SINASC, disponibles en el Departamiento de Informática del Sistema Único de Salud entre 2011 y 2015. Las definiciones de prematuridad, bajo peso y asfixia al nacer fueron aquellas determinadas en la literatura. La adecuación del peso al nacer con la edad gestacional se calculó basándose en las curvas de Fenton e Intergrowth-21. Se compararon las medias de peso por la presencia o no de prematuridad. La estimación de la edade gestacional se realizó mediante DUM en un 58,5%, y un 41,5% utilizaron otro método. Se descubrió que la proporción de prematuridad fue de un 12% en el grupo DUM y un 8,4% en el grupo otro método, ya que el bajo peso al nacer fue un 6,5% y 8,4%, respectivamente. La media de peso de los prematuros en el grupo DUM fue mayor. El uso de la DUM, como estimador de la edad gestacional, sobreestimó la proporción de peso mayor o igual a 2.500g en los prematuros, lo que no parece compatible con la distribución esperada para esta franja. La DUM favoreció la "corrección" de la prematuridad en relación con los parámetros comparables a los de estudios con datos primarios, a pesar de que las distorsiones encontradas entre edad gestacional y peso al nacer puedan indicar que todavía existen problemas con este estimador.

Identificación genética de recién nacidos en Perú: un estudio piloto / Genetic identification of newborns in Peru: a pilot study

OBJETIVO: Determinar la factibilidad de la identificación genética a un grupo de recién nacidos prove nientes de un hospital público de Lima-Perú. MATERIAL Y MÉTODO: Estudio descriptivo de corte trans versal, realizado por Registro de Identificación y Estado Civil de Perú, en recién nacidos vivos y sus respectivas madres, provenientes del Hospital Carlos Lanfranco La Hoz (Puente Piedra-Lima) du rante el mes de enero del 2015. Las muestras fueron colectadas en tarjetas FTA (Fast Technology for Analysis of nucleic acids) que permitieron un análisis directo por PCR (Polymerase Chain Reaction) y electroforesis capilar de 21 marcadores genéticos de tipo STR (Short Tandem Repeats), incluyendo el marcador amelogenina para la determinación del sexo. RESULTADOS: Se incluyeron un total de 44 madres y 45 recién nacidos (existió un parto gemelar). La probabilidad de maternidad fue mayor al 99.9% en todos los casos. No se encontraron dificultades en la toma de muestra, ni en el transporte del material. El material biológico obtenido fue suficiente para la obtención de ADN para realizar la identificación del recién nacido. CONCLUSIONES: El procedimiento de identificación genética fue factible de realizar en este hospital. Se identificaron etapas del proceso que podrían mejorarse para la posible aplicación de este procedimiento a una mayor escala en el Perú.

OBJECTIVE: To determine the feasibility of genetic identification in a group of newborns from a public hospital in Lima, Peru. MATERIAL AND METHOD: Descriptive cross-sectional study, carried out by the National Registry of Identification and Civil Status of Peru, on live newborns and their mothers, from the Carlos Lanfranco La Hoz Hospital (Puente Piedra, Lima) during January. 2015. The samples were collected in FTA (Fast Technology for Analysis of nucleic acids) cards that allowed a direct analysis by PCR (Polymerase Chain Reaction) and capillary electrophoresis of 21 STR markers (Short Tandem Repeats), including the amelogenin marker for gender determination. RESULTS: 44 mothers and 45 newborns were included (there was a twin birth). The probability of maternity was higher than 99.9% in all cases. There were no difficulties in the sampling or in transporting the material. The obtained biological material was enough to collect DNA to identify the newborn. CONCLUSIONS: The genetic identification procedure was possible to perform in this hospital. Stages of the process that could be improved were identified for the eventual application of this procedure on a larger scale in Peru.

Resultados del Programa Nacional de Prevención de la Ceguera en la Infancia por Retinopatía del Prematuro en Argentina (2004-2016) / Results of the National Program for the Prevention of Blindness in Childhood by Retinopathy of Prematurity in Argentina (2004-2016)

Introducción. El Grupo ROP Argentina,a cargo del "Programa Nacional para la Prevención de la Ceguera en la Infancia por Retinopatía del Prematuro" (ROP), se creó en 2003. Objetivos. Describir la implementación y resultados alcanzados por el programa en la efectividad, acceso y calidad en la atención de la ROP (2004-2016). Población y métodos. Estudio descriptivo, retrospectivo, de una cohorte dinámica, en instituciones adheridas al registro. Población elegible: la totalidad de recién nacidos prematuros con factores de riesgo para desarrollar ROP. Resultados. Los servicios incorporados aumentaron de 14 a 98; cubrieron 24 provincias. Los niños < 1500 g registrados en 2004fueron 956, y 2739 en 2016. El 22,7 % de estos presentó algún grado de ROP y el 7,8 % requirió tratamiento (ROP grave). La pesquisa superó el 90 % y aumentaron los tratamientos en el lugar de origen (57 %-92 %). La incidencia de casos inusuales sigue siendo elevada (17,3 % de los tratados) y aún se registran oportunidades perdidas. El uso de drogas antiangiogénicas se triplicó desde su inicio en 2011. Conclusiones. Se observan logros significativos en términos de representatividad, alcance y adherencia al programa, también en el acceso a la pesquisa y tratamiento en el lugar de origen; sin embargo, la incidencia de ROP es aún elevada. La subraya la necesidad de fortalecer aún más las acciones del programa en cuanto a servicios.

Introduction. The ROP Argentina Group was created in 2003 and is responsible for the National Program for the Prevention of Blindness in Childhood by Retinopathy of Prematurity (ROP) in Argentina. Objectives. To describe the program implementation and results achieved in relation to ROP care in terms of effectiveness, access, and quality (2004-2016). Population and methods. Descriptive, retrospective study with a dynamic cohort carried out in facilities that are part of the registry. Eligible population: All preterm newborn infants with risk factors for ROP. Results. Participating health care services increased from 14 to 98 and covered the 23 provinces and the Autonomous City of Buenos Aires. A total of 956 infants were born with < 1500 g in 2004 and 2739, in 2016. Of these, 22.7 % had some degree of ROP and 7.8 % required treatment (severe ROP). Vision screening exceeded 90 %, and treatments at the place of origin increased (57 %-92 %). The incidence of unusual cases is still high (17.3 % of treated cases), and missed opportunities are still recorded. The use of anti-angiogenic drugs trebled since 2011, when they started to be used. Conclusions. Significant achievements were observed in terms of program representativeness, scope, and adherence, and also in relation to screening access and treatment at the place of origin; however, the incidence of ROP is still high. The persistence of unusual cases and missed opportunities evidences deficiencies in the quality of health care and outpatient followup and underlines the need to strengthen the program actions in relation to services.

Relevancia de la detección de cardiopatías congénitas complejas mediante cribado con oximetría de pulso en recién nacidos aparentemente sanos en los establecimientos de salud / Relevance of the detection of complex congenital heart disease by screening with pulse oximetry in apparently healthy newborns in health establishments

Resumen Se trata de un estudio de revisión de datos publicados en literatura médica relacionada con el cribado usado para la detección temprana de cardiopatías congénitas complejas en recién nacidos aparentemente sanos en diversas ciudades del mundo, incluyendo los reportados en México, desde aquellos en los que se realiza el cribado por el conocimiento de la fisiopatologìa de datos indirectos de hipoxia, observación de cianosis diferencial y la consecuente diferencia en los valores de la pulsioximetría pre y posductal derivada de la dependencia ductal y/o de comunicación interauricular de diversas cardiopatías congénitas graves, hasta aquellos estudios de investigación realizados de forma masiva y reportados como multicéntricos, justificando la utilidad de la práctica para su implementación cotidiana y obligada de forma extensa a nivel internacional. Asimismo se citan tópicos legislativos en nuestro país como parte de los esfuerzos para establecer la obligatoriedad del cribado en toda la República Mexicana.

Abstract A review is presented of data published in medical literature related to the screening used for the early detection of complex congenital heart disease in apparently healthy newborns in several cities of the world, including those reported in Mexico. The screening wasperformed due to the knowledge of the pathophysiology of indirect hypoxia data, observation of differential cyanosis and the consequent difference in the values of pre- and post-ductal pulse oximetry derived from the ductal and/or atrial septal defect dependence of several severe congenital heart diseases. Multicentre research studies have also been carried out on a massive scale, thus justifying the usefulness of the practice for its daily implementation and at international level. Additionally, legislative topics are cited in our country as part of the efforts to establish the mandatory nature of the screening throughout the Mexican Republic.

The role of neonatal screening in nutritional evolution in the first 12 months after diagnosis of cystic fibrosis

SUMMARY OBJECTIVE: to assess the progression of pediatric cystic fibrosis (CF) patients' nutritional status during the first 12 months after diagnosis and to establish its association with neonatal screening and clinical variables. Patients were recruited from two reference centers in Southern Brazil. METHODS: Retrospective cohort study was carried out with all the patients diagnosed between 2009 and 2014. Anthropometric, clinic and neonatal screening were collected from medical files. Analysis of anthropometric markers over time was performed by generalized estimating equations. A multivariate regression analysis model to predict the Δ percentile body mass index (BMI) (BMI percentile difference between one year after the treatment and BMI percentile at diagnosis) was done. RESULTS: Forty-seven patients were included in the study. Analysis of nutritional data over the period between six months and one year after diagnosis showed significant improvement of BMI, weight/age and weight/height percentiles and Z scores. The neonatal screening was associated with a significant increase of 31.2 points in ΔBMI percentile at the one-year evaluation (p<0.05). On the other hand, a one-point increase of initial BMI percentile was associated with a reduction of 0.6 points in ΔBMI percentile. CONCLUSION: This study demonstrated the role of neonatal screening in the nutritional status of patients diagnosed with CF in the first year after diagnosis. Early diagnosis can significantly contribute to the achievement of appropriate anthropometric indicators and important nutritional recovery of CF patients.

RESUMO OBJETIVO: Avaliar a evolução do estado nutricional de pacientes pediátricos com fibrose cística (FC), provenientes de dois centros de referência do sul do Brasil, durante os 12 primeiros meses após o diagnóstico e estabelecer associação com a triagem neonatal e com variáveis clínicas. MÉTODOS: Estudo de coorte retrospectivo realizado com todos os pacientes diagnosticados entre 2009 e 2014. Foram coletados dados antropométricos, clínicos e de realização da triagem neonatal a partir dos prontuários dos pacientes. A análise dos indicadores antropométricos ao longo do tempo foi realizada por equações de estimativas generalizadas. Utilizou-se o modelo de análise de regressão multivariada para predizer o D percentil índice de massa corporal - IMC/I (diferença entre percentil de IMC/I um ano após o tratamento e percentil de IMC/I no momento do diagnóstico). RESULTADOS: Participaram do estudo 47 pacientes. A análise dos dados antropométricos ao longo do período de seis meses e um ano após o diagnóstico demonstrou melhora significativa dos parâmetros de percentil e escore Z de IMC/I, peso/idade e peso/estatura em cada período analisado. A realização da triagem neonatal foi associada com um aumento significativo de 31,2 pontos no Δ percentil de IMC/I durante o período de um ano (p<0,05). Por outro lado, um ponto a mais de percentil de IMC/I inicial foi associado com uma redução de 0,6 ponto no Δ percentil de IMC/I (p<0,01). CONCLUSÃO: O presente estudo evidencia o papel da triagem neonatal na evolução antropométrica de pacientes com FC no primeiro ano após o diagnóstico. O diagnóstico precoce pode contribuir significativamente para a recuperação nutricional desses pacientes.

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.