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1.
San Salvador; MINSAL; ene. 31, 2022. 40 p. ilus, graf, mapas.
Non-conventional in Spanish | LILACS, BISSAL | ID: biblio-1361736

ABSTRACT

Para dar cumplimiento a lo establecido en la Política Nacional de Apoyo al Desarrollo Infantil Temprano "Crecer Juntos", el Sistema Nacional Integrado de Salud (SNIS) da inicio a la implementación del tamizaje cardiaco como una estrategia costo efectiva que incidirá en el diagnóstico y tratamiento de las cardiopatías congénitas en recién nacidos para su identificación temprana y referencia oportuna y pertinente. El presente documento es resultado de una exhaustiva revisión bibliográfica, que servirá para la capacitación de los recursos del SNIS, de igual manera como base para realizar las gestiones de compra del equipo idóneo; incorporando un cuidado cariñoso y sensible que se requiere para un desarrollo integral y con esto asegurar un mejor presente y un grandioso porvenir como un derecho de la niñez


To comply with the provisions of the National Policy to Support Early Childhood Development "Grow Together", the National Integrated Health System (SNIS) begins the implementation of cardiac screening as a cost-effective strategy that will affect diagnosis and treatment of congenital heart disease in newborns for their early identification and timely and pertinent reference. This document is the result of an exhaustive bibliographic review, which will serve for the training of SNIS resources, in the same way as a basis for carrying out the procedures for purchasing the ideal equipment; incorporating loving and sensitive care that is required for comprehensive development and thereby ensure a better present and a great future as a child's right


Subject(s)
Infant, Newborn , Neonatal Screening , Heart Defects, Congenital , Child Development , Diagnosis
2.
Acta de Otorrinolaringología Cir. Cabeza cuello. ; 50(1): 51-57, 2022. ilus, tab, graf
Article in Spanish | LILACS, COLNAL | ID: biblio-1363384

ABSTRACT

Introducción: la hipoacusia neonatal (HN) constituye un problema de salud relevante por su alta frecuencia de presentación y los efectos que esta puede tener en el desarrollo mental y psicológico del paciente. El tamizaje auditivo neonatal (TAN) es fundamental para la identificación de pacientes en riesgo de HN. Objetivo: caracterización de los pacientes con resultados anormales en las pruebas de TAN en el Hospital Universitario Clínica San Rafael. Diseño: estudio observacional descriptivo de corte transversal. Materiales y métodos: se identificaron características biológicas y clínicas en pacientes con emisiones otoacústicas o potenciales evocados auditivos anormales realizados entre 2018 y 2020. Los pacientes incluidos se dividieron en 2 grupos, según la presencia de los factores de riesgo para HN. Resultados: 9027 pacientes se tamizaron, 223 (24,7 %) tuvieron resultados anormales y 19 pacientes se excluyeron. En total, 204 pacientes se incluyeron, de los cuales 46 (22,5 %) fueron de alto riesgo (AR) y 158 (77,5 %) de bajo riesgo (BR). El TAN en pacientes BR se realizó antes del primer mes de vida en 78,5 % de los casos y en 21,4 % de los AR. Las características más frecuentes fueron la ventilación mecánica (45,6 %), la hospitalización en cuidados intensivos (43,5 %), la anormalidad craneofacial (15,2 %) y la hiperbilirrubinemia mayor de 20 mg/dL (10,8 %). Conclusiones: se deben optimizar los esfuerzos y recursos para realizar las pruebas de tamizaje auditivo antes del primer mes de vida al 100% de pacientes. Se deben realizar estudios complementarios para identificar los diagnósticos auditivos finales de los pacientes con resultados anormales, así como el tipo de tratamiento y la rehabilitación auditiva recibida.


Introduction: Neonatal hearing loss (NHL) is a relevant health problem due to its high incidence and the effects it may have both on the mental and psychological development of the patient. Neonatal hearing screening (NHS) is essential for the identification of patients at risk of NHL. Objective: To identify the characteristics of patients with abnormal NHS test results at the Hospital Universitario Clínica San Rafael. Design: Cross-sectional descriptive observational study. Materials and methods: Biological and clinical characteristics were identified in patients with abnormal otoacoustic emissions and/or auditory evoked potentials (AEP) performed between 2018 and 2020. Patients involved were divided into 2 groups according to the presence of risk factors for NHL. Results: 9027 patients were screened, 223 (24.7%) had abnormal results, but 19 patients were excluded. 204 patients were included in total, 46 (22.5%) of which were high risk (HR) and 158 (77.5%) were low risk (LR). NHS in LR patients was performed before the first month of life on 78.5% of cases and 21.4% of HR patients. The most frequent characteristics were mechanical ventilation (45.6%), intensive care unit admission (43.5%), craniofacial abnormality (15.2%) and hyperbilirubinemia greater than 20 mg/dL (10.8%). Conclusion: Efforts and resources should be optimized as means to perform hearing screening tests before the first month of life on 100% of patients. Complementary studies should be performed with the aim to identify the final auditory diagnoses of patients with abnormal results, as well as the type of treatment and auditory rehabilitation offered.


Subject(s)
Humans , Hearing Loss , Neonatal Screening , Evoked Potentials, Auditory
3.
Rev. APS ; 24(2): 311-320, 2021-11-05.
Article in Portuguese | LILACS | ID: biblio-1359421

ABSTRACT

Objetivo: Investigar a percepção das mães das crianças submetidas à triagem neonatal biológica. Métodos: Estudo exploratório e descritivo com abordagem qualitativa, realizado com mães de crianças triadas nas 16 Unidades Básicas de Saúde localizadas na sede do município de Sobral, Ceará, no ano de 2012. A pesquisa foi aprovada pelo Comitê de Ética em Pesquisa da Universidade Estadual Vale do Acaraú. Resultados: As mães possuíam conhecimento da importância do "teste do pezinho", porém apresentavam um conceito distorcido deste. Afirmaram que foram orientadas quanto à existência do teste no ciclo gravídico-puerperal, todavia, não houve orientação no momento da realização do procedimento. Ainda, consideraram algumas fragilidades no atendimento das unidades de saúde, contudo, mostraram-se satisfeitas. Conclusão: É fundamental a capacitação dos profissionais que realizam a triagem neonatal biológica, para que, dessa forma, promovam orientações satisfatórias a essas mães que levam seus filhos para realização do teste.


Objective: To investigate the perception of mothers on their children undergoing the heel prick blood test, a neonatal biological screening. Methods: Exploratory and descriptive study with a qualitative approach, conducted with sixteen mothers screened in sixteen Family Health Units in the city of Sobral, in 2012. The research was approved by the Research Ethics Committee at the Universidade Estadual Vale do Acaraú. Results: The mothers were aware of the importance of the heel prick blood test, however, they had a wrong concept about it. They stated that there was guidance about the test existence in the Pregnancy circle, but no guidance was provided during the procedure. They considered some weaknesses in the assistance in the Health Units, but, in the end, they showed satisfaction. Conclusion: The training of professionals who perform the neonatal biological screening is essential so that they promote satisfactory guidance to these mothers that take their children to undergo the test.


Subject(s)
Neonatal Screening , Mothers
4.
Arch. argent. pediatr ; 119(3): e193-e201, Junio 2021. tab, ilus
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1223310

ABSTRACT

Se describen como desafíos actuales en mucopolisacaridosis I la necesidad de una clasificación adecuada, vinculándola a las indicaciones terapéuticas; el diagnóstico temprano desde la pesquisa neonatal, sus ventajas y dificultades hasta la sospecha clínica de las formas grave y atenuada; el cuidado de la patología espinal y oftalmológica, desde el diagnóstico, el seguimiento y el tratamiento; las reacciones alérgicas por terapia de reemplazo enzimático, su diagnóstico y tratamiento. Por último, la transición hacia el cuidado adulto


Here we describe the current challenges of mucopolysaccharidosis type I: the need for an adequate classification, establishing its relationship to therapeutic indications; an early diagnosis, from neonatal screening, its advantages and barriers, to clinical suspicion of severe and attenuated forms; spinal and eye disease care, from diagnosis to follow-up and treatment; allergic reactions caused by enzyme replacement therapy, their diagnosis and treatment. And lastly, transition to adult care


Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Mucopolysaccharidosis I/diagnosis , Mucopolysaccharidosis I/therapy , Neonatal Screening , Mucopolysaccharidosis I/classification , Eye Diseases/diagnosis , Eye Diseases/therapy , Transition to Adult Care , Hypersensitivity/diagnosis , Hypersensitivity/therapy
5.
Rev. Hosp. Ital. B. Aires (2004) ; 41(2): 71-78, jun. 2021. tab
Article in Spanish | LILACS | ID: biblio-1254499

ABSTRACT

Introducción: la atrofia muscular espinal (AME) es la primera causa de origen genético de muerte en la infancia. En los últimos 20 años han sido excepcionales los avances en el conocimiento de su base genética, de su historia natural y se han desarrollado estándares de cuidado y nuevas terapias. Este veloz aumento del conocimiento ha llevado al desarrollo de terapias eficaces para esta devastadora enfermedad, pero el tiempo son neuronas, y esa frase nos lleva a pensar la importancia del diagnóstico precoz y, por qué no, del diagnóstico presintomático mediante pesquisa neonatal. Métodos: revisión de la bibliografía disponible, a través de búsqueda en PubMed y Google para trabajos no indexados o publicaciones de organismos de Salud. Resultados: varios estudios clínicos han mostrado la mayor eficacia del tratamiento en pacientes presintomáticos, por lo que lograrlo en estos pacientes llevaría a cambiar radicalmente la historia de esta enfermedad. Conclusión: es importante analizar y promover el desarrollo de pilotos para pesquisa neonatal en vistas a lograr experiencia para, a partir de ello, pensar en la posibilidad de incorporarlo a programas nacionales. (AU)


Introduction: spinal muscular atrophy (SMA) is the first cause of genetic origin of death in childhood. Throughout the last 20 years, we have witnessed exceptional advances in the knowledge of its genetic base, the history of its nature and several standards of care and new therapies have been developed. This rapid increase in knowledge has led to the development of effective therapies for this devastating disease. However, time is neurons, and that phrase reminds us of the importance of early diagnosis, and, why not, of pre-symptomatic diagnosis by means of neonatal screening. Methods: review of scientific papers searching in Pubmed or Google for non-indexed articles or publications of Health organisms. Results: several clinical studies have shown the greatest effectiveness of treatment in pre-symptomatic patients, so achieving the same in these patients would result in radically changing the history of this disease. Discussion: it is important to analyze and promote the development of pilots for neonatal screening in order to gain experience, so from there on to be able to think about the possibility of incorporating it into national programs. (AU)


Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Muscular Atrophy, Spinal/diagnosis , Neonatal Screening , Muscular Atrophy, Spinal/genetics , Muscular Atrophy, Spinal/therapy , Incidence , Natural History of Diseases , Early Diagnosis
7.
Arch. argent. pediatr ; 119(5): e508-e512, oct. 2021. tab, ilus
Article in Spanish | LILACS, BINACIS | ID: biblio-1292677

ABSTRACT

Los defectos del ciclo de la urea son enfermedades metabólicas hereditarias que se producen por defecto en una de las enzimas encargadas de la desintoxicación del amonio, lo que genera su acumulación en el organismo. Las manifestaciones clínicas pueden presentarse en la etapa neonatal, con morbimortalidad elevada, o de forma tardía. La heterogeneidad de los síntomas y la falta de sospecha clínica en neonatos conducen a un diagnóstico erróneo y se puede confundir con sepsis neonatal o hemorragias cerebrales. El aumento de amonio plasmático en el examen bioquímico orienta su diagnóstico hacia un defecto del ciclo de la urea.La aciduria argininosuccínica es el tercer defecto más frecuente del ciclo de la urea y es causada por deficiencia de la enzima argininosuccínico liasa. Se presenta el informe de un caso de inicio neonatal. Los objetivos son enfatizar en su sospecha diagnóstica y proponer herramientas diagnósticas tempranas, como su incorporación a la pesquisa metabólica neonatal.


Urea cycle defects are inborn errors of metabolism produced by a defect in one of the enzymes responsible for the detoxification of ammonia, which generates its accumulation in the body. The clinical manifestations can present early, with high morbidity and mortality, or late onset. The heterogeneity of the symptoms and the lack of clinical suspicion in neonates leads to a wrong diagnosis, which can be confused with neonatal sepsis or cerebral hemorrhages. The increase in plasma ammonia in the biochemical examination orients his diagnosis towards a defect of the urea cycle.Argininosuccinic aciduria is the third most frequent defect of the urea cycle, and is caused by a argininosuccinate lyase deficiency. A neonatal onset case report is presented. The objective is to emphasize its diagnostic suspicion, and to propose early diagnostic tools such as its incorporation into the neonatal metabolic screening.


Subject(s)
Humans , Female , Infant, Newborn , Argininosuccinic Aciduria , Neonatal Screening , Hyperammonemia
8.
Rev. gaúch. enferm ; 42(spe): e20200193, 2021. tab
Article in English | LILACS, BDENF | ID: biblio-1280422

ABSTRACT

ABSTRACT Objective To describe the experience of developing and operating an extension course to qualify nurses in the care of children with genetic diseases. Method An experience report about the conduction of a university extension course with eight participants, developed at a public university in southern Brazil. It was a face-to-face course in November 2019. Results The course covered the following themes: introduction to Genetics in Nursing; rare diseases; inborn errors of metabolism; Neonatal Screening Program; and microcephaly. The content was developed through theoretical aspects, presentation of clinical cases, practical activities, and realistic simulation. Conclusion The extension course provided knowledge to nurses, who develop their functions as team leaders, enabling professional development and the promotion of information on the topic, which corroborates the objectives of the Nursing Now campaign.


RESUMEN Objetivo Describir la experiencia de desarrollo y operacionalización de un curso de extensión para calificar enfermeras en el cuidado de niños con enfermedades genéticas. Método Informe de experiencia sobre la realización de un curso de extensión universitaria con ocho participantes, desarrollado en una universidad pública en el sur de Brasil. El curso tuvo lugar en persona, en noviembre de 2019. Resultados El curso cubrió los siguientes temas: introducción a la Genética en Enfermería; enfermedades poco comunes; errores innatos del metabolismo; Programa de detección neonatal; y microcefalia. El contenido se desarrolló mediante el desarrollo de aspectos teóricos, la presentación de casos clínicos, actividades prácticas y simulación realista. Conclusión El curso de extensión proporcionó conocimiento a las enfermeras, quienes desarrollan sus roles como líderes de equipo, permitiendo el desarrollo profesional y la difusión de información sobre el tema, lo que corrobora los objetivos de la campaña Nursing Now.


RESUMO Objetivo Descrever a experiência de desenvolvimento e operacionalização de um curso de extensão para qualificar enfermeiros no cuidado de crianças com doenças genéticas. Método Relato de experiência sobre a realização de um curso de extensão universitária com oito participantes, desenvolvido em uma universidade pública no sul do Brasil. O curso foi realizado na modalidade presencial, em novembro de 2019. Resultados O curso contemplou os seguintes temas: introdução à genética na enfermagem, doenças raras, erros inatos do metabolismo, Programa de Triagem Neonatal e microcefalia. O conteúdo foi desenvolvido por meio do desenvolvimento dos aspectos teóricos, apresentação de casos clínicos, atividades práticas e simulação realística. Conclusão O curso de extensão proporcionou conhecimento aos enfermeiros, que desenvolvem suas funções como líderes de equipe, permitindo o desenvolvimento profissional e a disseminação de informações sobre o tema, o que corrobora os objetivos da campanha Nursing Now.


Subject(s)
Humans , Pediatric Nursing , Knowledge , Training Courses , Simulation Training , Genetic Diseases, Inborn , Nurses , Universities , Neonatal Screening , Education, Nursing, Continuing
10.
Rev. bras. educ. méd ; 45(1): e014, 2021. graf
Article in English | LILACS | ID: biblio-1155921

ABSTRACT

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.


Subject(s)
Humans , Infant, Newborn , Neonatal Screening/instrumentation , Diagnostic Techniques, Ophthalmological/instrumentation , Simulation Training , Health Personnel , Printing, Three-Dimensional , Manikins
11.
Rev. CEFAC ; 23(1): e10620, 2021. tab
Article in English | LILACS | ID: biblio-1287867

ABSTRACT

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.


Subject(s)
Humans , Infant, Newborn , Neonatal Screening/methods , Otoacoustic Emissions, Spontaneous , Hearing Loss/diagnosis , Hearing Tests , Retrospective Studies , Risk Factors , Hearing Loss/etiology
12.
CoDAS ; 33(2): e20190259, 2021. tab, graf
Article in Portuguese | LILACS | ID: biblio-1249605

ABSTRACT

RESUMO Objetivo Verificar a cobertura da triagem auditiva neonatal e sua associação com a quantidade de Fonoaudiólogos no SUS e de equipamentos disponíveis nas unidades federativas do Brasil nos anos de 2012 e 2018. Método O estudo é do tipo ecológico descritivo de séries temporais tendo como unidade de análise as Unidades de Federação do Brasil e os nascidos-vivos. Foi realizada a análise exploratória da cobertura da triagem auditiva neonatal e análise descritiva dos dados. O coeficiente de correlação do ranking de Spearman foi usado para medir a força e direção de associação entre duas variáveis ranqueadas. Resultados A COB no Brasil apresentou evolução de 24,1% para 67,6%. Observaram-se melhores coberturas estão nas Regiões Sul e Sudeste em 2012 e no ano de 2018 destacando-se a Região Sul e o estado do MS. A média do índice de fonoaudiólogos foi de 4,79 e 8,9/100.000 habitantes, respectivamente para os anos de 2012 e 2018. O índice da oferta de equipamentos de "Emissões Otoacústicas Evocadas Transientes" se manteve abaixo de 1/100.000 habitantes nos dois anos e em todas as unidades federativas do país. Conclusão A cobertura da triagem apresentou um aumento no Brasil, porém ainda abaixo do recomendado e está relacionada com o aumento da inserção de fonoaudiólogos no SUS. A distribuição espacial se apresenta heterogênea em todo seu território.


ABSTRACT Purpose To determine the coverage of newborn hearing screening (NHS) and its association with the availability of speech therapists in the National Health System (SUS) and equipment in the states of Brazil in 2012 and 2018. Methods This is a descriptive ecological time series study with the Brazilian states and live births as units of analysis. An exploratory analysis of newborn hearing screening coverage and descriptive data analysis were performed. Spearman's correlation coefficient was used to measure the strength and direction of the association between two ranked variables. Results Coverage in Brazil increased from 24.1% to 67.6%. Better coverage was observed in the South and Southeast regions in 2012, and in the former and Mato Grosso state (MS) in 2018. The average number of speech therapists was 4.79 and 8.9 / 100,000 inhabitants in 2012 and 2018, respectively. The index of "transient evoked otoacoustic emission" equipment was below 1 / 100,000 inhabitants in the two years in all the states of the country. Conclusion Screening coverage increased in Brazil, albeit below the recommended level, and is related to rising number of speech therapists in the SUS. Spatial distribution is heterogeneous throughout the country.


Subject(s)
Humans , Infant, Newborn , Speech , Otoacoustic Emissions, Spontaneous , Brazil , Mass Screening , Neonatal Screening , Allied Health Personnel
13.
Afr. j. lab. med. (Online) ; 10(1): 1-8, 2021.
Article in English | AIM, AIM | ID: biblio-1291595

ABSTRACT

Background: Sickle cell anaemia is a common global life-threatening haematological disorder. Most affected births occur in sub-Saharan Africa where children usually go undiagnosed and die early in life. Uganda's national sickle cell screening programme was developed in response to a 2014 sickle cell surveillance study that documented a high disease prevalence. Objective: This study describes the temporal and financial aspects of Uganda's 2014­2019 sickle cell screening programme. Methods: National sickle cell screening data from Uganda's Central Public Health Laboratories were used to calculate turn-around times (TATs) from sample collection to delivery, testing, and result reporting for blood samples collected from February 2014 to March 2019. The parameters affecting specific TATs were assessed. The exact programme expenditures were analysed to determine cost per test and per positive sickle cell disease case detected. Results: A total of 278 651 samples were analysed. The median TAT from sample collection to laboratory receipt was 8 days (interquartile range [IQR]: 6­12), receipt to testing was 3 days (IQR: 1­7), and testing to result reporting was 6 days (IQR: 3­12). Altogether, the sample continuum averaged 16 days (IQR: 11­24). Lower level healthcare facilities were associated with longer sample delivery TATs. Calendar months (January and December) and larger sample volumes impacted testing and result reporting TATs. The cost per test was $4.46 (United States dollars [USD]) and $483.74 USD per positive case detected. Conclusion: Uganda's sickle cell screening programme is efficient and cost-effective. Universal newborn screening is the best strategy for detecting sickle cell anaemia in Uganda.


Subject(s)
Cost-Benefit Analysis , Health Facilities , Anemia, Sickle Cell , Neonatal Screening , National Health Programs
14.
Article in French | AIM, AIM | ID: biblio-1359864

ABSTRACT

Introduction : Les cardiopathies congénitales critiques représentant 25% des cardiopathies congénitales et s'accompagnent souvent de désaturation, d'où l'intérêt de l'utilisation de la saturation pulsée en oxygène pour favoriser leur détection chez tous les nouveau-nés avant la sortie de maternité et un traitement adéquat. Au Bénin la saturométrie de dépistage est encore peu utilisée. Cette étude avait pour objectif d'étudier l'apport de la saturométrie dans le dépistage des cardiopathies congénitales cyanogènes au CNHU-HKM de Cotonou en 2019. Méthodes : Il s'agissait d'une étude transversale, descriptive et analytique qui s'est déroulée du 15 mai au 13 novembre 2019 et ayant inclus les nouveau-nés, nés au CNHU- HKM. Tous les enfants ont bénéficié d'un examen clinique et d'un test de saturométrie. L'échographie Döppler cardiaque a été réalisée chez tous les patients et utilisée comme gold standard pour déterminer les performances diagnostiques de la saturométrie pour le dépistage des cardiopathies congénitales cyanogènes. Résultats : un total de 379 nouveau-nés ont été inclus. L'acceptabilité parentale était de 72,64%. La saturométrie a permis de détecter 4 cas d'hypertension artérielle pulmonaire persistante du nouveau-né (HTAPP) associée à un foramen ovale shuntant droite-gauche. La saturométrie de dépistage avait une sensibilité de 100%, une spécificité de 94,93% et une valeur prédictive positive à 17,4%. Malgré son faible caractère discriminant pour les autres causes de désaturation, la valeur prédictive négative était de 100%. L'examen clinique améliore les performances diagnostiques de la saturométrie pour le dépistage des cardiopathies congénitales cyanogènes. Conclusion : La saturométrie est un test de dépistage aisément utilisable dans nos conditions de travail et avec une bonne acceptabilité parentale. Malgré son faible caractère discriminant, ses performances diagnostiques sont excellentes pour le dépistage des cardiopathies congénitales cyanogènes.


ABSTRACT Introduction: Critical congenital heart disease represented 25% of congenital heart disease and are often accompanied by desaturation, hence the interest to use pulse oximeter in order to detect all newborns who have congenital heart disease before discharge after birth. In Benin, pulse oximetry screening is rarely used. This study aimed to study the contribution of s pulse oximetry screening in the detection of cyanotic congenital heart disease at the CNHU-HKM in Cotonou in 2019. Results: 379 newborns were included. The parental acceptability was 72.64%. Pulse oximetry detected 4 cases of newborn pulmonary hypertension with a permeable foramen oval and right to left shunt. Pulse oximetry screening had a sensitivity of 100% and a specificity of 94.93%, a positive predictive value of 17.4%. Despite its low discriminating character for the other causes of desaturation, its negative predictive value was 100%. Clinical examination improves results of pulse oximetry to detect cyanotic congenital heart disease. Conclusion: Pulse oximetry is a screening test easily used in our condition with a good parental acceptability. Despite its low discriminating character, it has an excellent accuracy to detect cyanotic congenital heart disease.


Subject(s)
Humans , Infant, Newborn , Infant , Oximetry , Neonatal Screening , Diagnostic Techniques, Cardiovascular , Heart Defects, Congenital
15.
Article in Chinese | WPRIM | ID: wpr-922018

ABSTRACT

OBJECTIVE@#To detect common pathogenic variants associated with congenital deafness among neonates from Huizhou and surrounding areas and discuss its implications.@*METHODS@#Thirteen hot-spot mutations in four most common pathogenic genes were screened among 20 934 neonates from March 2017 to December 2019.@*RESULTS@#In total 760 neonates were found to carry common pathogenic variants (3.63%). Sixty two neonates have carried homozygous/compound heterozygous variants or homoplasmy/heteroplasmy mutations of mtDNA (0.29%). Further analysis of five abnormal cases revealed that 3 of them have carried compound heterozygous mutations of GJB2 gene, and 2 were due to compound heterozygous variants of the CDH23 gene.@*CONCLUSION@#Genetic testing has a great clinical significance for the prevention and reduction of congenital hearing loss, but the scope needs to be updated and redefined by removing mutation sites with a very low rate, adding new significant sites, and improvement of the technical strategies.


Subject(s)
Connexin 26 , Connexins/genetics , DNA Mutational Analysis , Deafness/genetics , Genetic Testing , Hearing Loss/genetics , Humans , Infant, Newborn , Mutation , Neonatal Screening
16.
Article in Chinese | WPRIM | ID: wpr-879596

ABSTRACT

OBJECTIVE@#To establish a newborn screening system for Duchenne muscular dystrophy (DMD) through assessment of MM isoenzyme of creatine kinase (CK-MM) activity.@*METHODS@#The CK-MM level was detected using dry blood spot filter paper from 10 252 male newborns. The results were grouped based on their gestational age, sampling time and intervals between the experiments. The threshold value for CK-MM necessitating genetic testing was determined. Next-generation sequencing (NGS) was carried out for those with a CK-MM value over the threshold, and the result was verified by multiplex ligation-dependent probe amplification (MLPA).@*RESULTS@#Based on the result of non-parametric rank sum test, the median CK-MM concentration has increased with the gestational age, and was inversely correlated with the age of the newborns among unaffected specimens. CK-MM on dry blood spot filter paper can be stable for 14 days at 2-8℃. Statistical analysis of CK-MM value of the 10 252 neonates suggested that the threshold may be set as 700 ng/mL. Exonic deletions were found in 2 confirmed cases, whose CK-MM level was greater than 2000 ng/mL.@*CONCLUSION@#Detection of CK-MM in dry blood spot filter paper has provided an effective method for newborn screening of DMD. This simple and inexpensive method can be used for large-scale screening, which is of great value to the early intervention and treatment of the disease.


Subject(s)
Dystrophin/genetics , Exons , Humans , Infant, Newborn , Male , Multiplex Polymerase Chain Reaction , Muscular Dystrophy, Duchenne/genetics , Neonatal Screening
17.
Article in Chinese | WPRIM | ID: wpr-879517

ABSTRACT

OBJECTIVE@#To analyze the results of concurrent hearing and deafness genetic screening and follow up of newborns.@*METHODS@#In total 33 911 babies born to 5 designated hospitals in Nanshan District of Shenzhen city from October 2017 to December 2019 were included. All subjects underwent concurrent hearing and deafness genetic screening covering 21 variants of 4 genes including GJB2, SLC26A4, GJB3 and Mt12SrRNA. For those with positive results, Sanger sequencing was carried out for confirmation.@*RESULTS@#93.32% subjects passed the first-round hearing screening, and 87.01% passed the recheck testing. The overall detection rate was 4.18%. The detection rates for GJB2, SLC26A4, GJB3 and Mt12srRNA variants were 1.98%, 1.58%, 0.37% and 0.25%, respectively. 126 and 84 subjects were found with high risk for delayed-onset and drug-induced hearing loss, respectively. In addition, 4 and 5 subjects were found to harbor homozygous/compound heterozygous variants of the GJB2 and SLC26A4 genes, respectively. Concurrent screening showed that subjects (with heterozygous variants) who did not passed the two round hearing test were as follows: GJB2 with 6.75% in the first round and 2.61% in the second round testing, SLC26A4 (3.3%/1.2%), GJB3 (0.72%/0.14%) and 12SrRNA (0.36%/Nil), respectively. Moreover, the No-pass rate in the subjects with homozygous or compound variants in single gene, heterozygous variant in single gene, heterozygous variant in multiple genes, and homozygous variant in GJB3 gene were significantly higher than the subjects with negative results of genetic screening.@*CONCLUSION@#Concurrent newborn genetic screening can enhance the effectiveness of hearing screening and enable earlier identification and intervention for children with hearing impairment. Follow-up can improve the diagnostic rate for children who are positive for the concurrent screening. Nevertheless, genetic and hearing screening cannot replace the diagnostic testing. It is necessary to conduct comprehensive analysis for the results of genetic and hearing screening and radiological examinations. Sanger sequencing and next-generation sequencing are critical for ascertain the diagnosis.


Subject(s)
China/epidemiology , DNA Mutational Analysis , Deafness/genetics , Follow-Up Studies , Genes/genetics , Genetic Testing/statistics & numerical data , Hearing/genetics , Hearing Tests/statistics & numerical data , Humans , Infant, Newborn , Mutation , Neonatal Screening
18.
Rev. Ciênc. Méd. Biol. (Impr.) ; 19(4): 565-571, dez 30, 2020. tab, ilus
Article in Portuguese | LILACS | ID: biblio-1355125

ABSTRACT

Introdução: a triagem auditiva neonatal (TAN) está disposta na Lei nº 12.303/2010, a qual, obriga a realização do teste da orelhinha em todos os hospitais e maternidades do Brasil. Porém, vários estados brasileiros ainda não atingiram o nível de cobertura satisfatória desse programa conforme preconizado. Objetivo: analisar a cobertura da triagem auditiva neonatal no período entre 2011 a 2018 nas macrorregiões do Estado da Bahia. Metodologia: estudo ecológico, quase-experimental, realizado por meio do tabulador genérico de domínio público desenvolvido pelo DATASUS. Resultados: a produção ambulatorial dos procedimentos da TAN no Estado da Bahia obteve crescimento considerável ao longo do período do estudo, porém os achados apontaram que as taxas de crescimentos anuais apresentaram um comportamento irregular no seu crescimento. Observou-se que a média das taxas de cobertura na Bahia é inferior à média nacional e muito discrepante quando comparada a média universal. Conclusão: os achados demonstraram que o Estado da Bahia segue com taxas de cobertura da TAN inferior ao preconizado pelo COMUSA (Comitê Multiprofissional de Saúde Auditiva), apresentando distribuição irregular na realização dos procedimentos, ausência de recursos tecnológicos em algumas macrorregiões, o que compromete o princípio da universalidade da TAN no Estado.


Introduction: the newborn hearing screening (NHS) is set out in Law Nº 12.303/2010, which requires the ear test to be performed in all hospitals and maternity hospitals in Brazil. However, several Brazilian states have not yet reached the level of satisfactory coverage of this program as recommended. Objective: to analyze the coverage of newborn hearing screening, between 2011 and 2018, in the macro-regions of the State of Bahia. Methodology: ecological, quasi-experimental study, carried out using the generic public domain tab developed by DATASUS. Results: the NHS procedures in the State of Bahia achieved considerable growth over the period of the study, however the findings pointed out that the annual growth rates showed an unstable behavior in their growth. It was observed that the average coverage rates in Bahia are lower than the national average and very different when compared to the universal average. Conclusion: the findings showed that the State of Bahia continues to have NHS coverage rates lower than recommended by COMUSA (Multiprofessional Hearing Health Committee), unstable distribution in the performance of procedures, there are no technological resources in some macro-regions, which compromises the principle of universality of NHS in the state.


Subject(s)
Health Services Coverage , Infant, Newborn , Neonatal Screening , Health Care Quality, Access, and Evaluation , Otoacoustic Emissions, Spontaneous , Quality Management , Evoked Potentials, Auditory , Epidemiology, Experimental , Database , Ecological Studies
19.
Rev. Ciênc. Méd. Biol. (Impr.) ; 19(4): 631-635, dez 30, 2020. fig
Article in Portuguese | LILACS | ID: biblio-1355255

ABSTRACT

Objetivo: descrever o acompanhamento audiológico de uma criança com exame sorológico positivo para sífilis. Caso Clínico: E.G.M.L, com sorologia positiva para sífilis, com dois dias de vida, obteve resultado "falha" na Triagem Auditiva Neonatal, com Emissões Otoacústicas Evocadas Transientes. Encaminada para o ambulatório da Clínica Escola de Fonoaudiologia, da Universidade Estadual da Bahia, retornou com quatro meses, quando realizou reteste das Emissões Otoacústicas Evocadas Transientes, que permaneceram ausentes; também se submeteu à imitanciometria, onde foram obtidas curvas timpanométricas "pico único". A avaliação da condução nervosa com Potencial Evocado Auditivo do Tronco Encefálico do Tronco Encefálico mostrou-se normal na orelha esquerda, com limiares eletrofisiológicos presentes até a intensidade de 50 dB. Porém, houve despertar do sono e não foi possível avaliar a orelha direita. Em nova reavaliação, aos oito meses, a condução nervosa pelo mesmo processo apresentou normalidade na orelha direita. As condições nutricionais de E.G.M.L. eram então críticas, com desnutrição acentuada. O atendimento no âmbito audiológico foi temporariamente suspenso e houve encaminhamento para o setor de fisioterapia e nutrição da Universidade do Estado da Bahia. Discussão: o levantamento de questões audiológicas, em grupos de risco para alterações auditivas, visa à reabilitação e à garantia das condições ideais de comunicação. Neonatos com detecção precoce de alterações auditivas são candidatos ideais à amplificação e reabilitação. Conclusão: crianças com risco para sífilis congênita precisam ser avaliadas na Triagem Auditiva e acompanhadas no seguimento. Entretanto, algumas vezes torna-se difícil conscientizar a família. Essa continuidade é importante para assegurar a integridade dos sentidos e, no caso da audição, para favorecer o desenvolvimento adequado da criança.


Objective: to describe the audiologic follow-up of a child testing positive in the serological test for syphilis. Case: E.G.M.L. has positive syphilis serology and within two days of life presented a Newborn Hearing Screening result considered fail and Transient-evoked Otoacoustic Emissions (TEOAE). She was referred to the outpatient clinic of the Clinical School of Speech-Language Therapy of State University of Bahia (UNEB) to where she returned after four months to submit to a retest of TEOAE which remained absent and an immittance test that presented a single-peaked tympanometric shape. The evaluation of nerve conduction related to Auditory Brainstem Response (ABR) was normal in the left ear presenting thresholds up to 50 dB. However, as she awakened, it was not possible to assess the right ear. However, in a new reassessment, which only occurred when she was at eight months of age, the nerve conduction related to ABR was normal in the right ear. The nutritional status of E.G.M.L at eight months of age was critical, she was severely undernourished. The hearing care service was temporarily suspended, then she was referred to the UNEB physiotherapy and nutrition sector. Discussion: the purpose of the survey on audiological issues among infectious risk groups is to make an early diagnosis of hearing disorders in order to promote rehabilitation and improve communication functions. Neonates with hearing loss at such a young age are the best candidates for amplification and rehabilitation. Conclusion: Children at risk for congenital syphilis need to be evaluated in terms of Hearing Screening and to be monitored, even though it sometimes becomes difficult to convince the family about that. It is important to keep this process in order to assure the integrity of the senses, especially in terms of the audiologic system, and to promote the adequate development of the child.


Subject(s)
Humans , Male , Female , Child , Adult , Syphilis, Congenital , Neonatal Screening , Evoked Potentials, Auditory , Infant , Case Reports
20.
Biomédica (Bogotá) ; 40(4): 764-778, oct.-dic. 2020. tab, graf
Article in Spanish | LILACS | ID: biblio-1142440

ABSTRACT

Resumen: Introducción. Las características controversiales de la tamización neonatal influenciadas por consideraciones bioéticas hacen compleja su implementación. Colombia no es ajena a esta situación y las circunstancias locales complican el panorama. Objetivo. Determinar cómo se abordan en el contexto local las controversias bioéticas en torno a la tamización neonatal como fundamento de las deliberaciones sobre el deber ser de esta actividad en Colombia. Materiales y métodos. Se aplicó una encuesta en el marco de un estudio interpretativo con dos componentes de análisis, uno descriptivo y otro deliberativo, en torno a los valores expuestos por funcionarios del Instituto Nacional de Salud. Resultados. La oferta obligatoria de la tamización por parte de la nación, independientemente del costo de oportunidad y el consentimiento para el uso de sus resultados y de las muestras residuales en la investigación, no suscitaron controversias, pero sí el tipo de información y la autorización para hacer la tamización. Los funcionarios con mayor experiencia expresaron su preferencia por una tamización obligatoria (17,7 Vs. 11,79 años en promedio; p=0,007). Sorpresivamente, a pesar del riesgo de discriminación, teniendo como fin el neonato, hubo acuerdo en entregar toda la información a padres e historia clínica. Otro aspecto controversial fue la identificación de los pacientes en el seguimiento, frente a lo cual los funcionarios de mayor experiencia en aspectos bioéticos prefirieron el uso de códigos (4,5 Vs. 1,26 años en promedio; p=0,009). En este contexto, estrategias como el disentimiento informado, el asesoramiento especializado o los programas de salud pública que aprecien la diversidad permitirían rescatar valores, incluso aquellos aparentemente opuestos. Conclusión. La aproximación local al deber ser de la tamización neonatal desde una perspectiva bioética deliberativa permitió ajustar una propuesta para su implementación.


Abstract: Introduction: The controversial characteristics of neonatal screening influenced by bioethical considerations make its implementation complex. Colombia is not an exception in this sense and local circumstances complicate the panorama. Objective: To establish how bioethical controversies on neonatal screening are approached at a local level as a basis for deliberating on the must-be of this activity in Colombia. Materials and methods: A survey immersed in an interpretative investigation with descriptive and deliberative components of analysis was applied to approach the values exposed by officials of the Colombian Instituto Nacional de Salud. Results: The compulsory offer of screening by the nation, regardless of its opportunity cost and the consent for the use in research of results and residual samples, were not controversial, but, in contrast, the type of information and the consent to authorize screening did arise controversy. The more experienced officials preferred mandatory screening (17.7 vs. 11.79 years on average, p=0.007). Surprisingly, despite the risk of discrimination, keeping the neonate as the purpose, there was agreement on giving all the information to parents and medical records. Another controversial aspect was the follow-up of cases without hiding their identification where officials with more experience in bioethical aspects preferred the use of codes (4.5 vs. 1.26 years on average, p=0.009). In this context, strategies such as informed dissent, specialized advice or public health programs that appreciate diversity would allow to rescue even seemingly opposite values. Conclusion: A local approach regarding what ought to be in neonatal screening based on a deliberative bioethical perspective allowed to present an implementation proposal for this activity.


Subject(s)
Bioethics , Neonatal Screening , Social Justice , Personal Autonomy , Moral Obligations , Beneficence
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