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Id: biblio-1144465
Autor: Pérez Blanco, Jorge Germán; González Fernández, René Iván; Pantoja Gómez, Yosvani; Santos Ceballo, José Carlos; Velarde Reyes, Ernesto.
Título: Registro de emisiones otoacústicas transientes basado en microcontroladores de alto rendimiento / Transient Otoacoustic Emissions Register based on High Performance Microcontrollers
Fonte: Rev. cuba. inform. méd;12(2):e399tab, graf.
Idioma: es.
Resumo: La hipoacusia tiene una incidencia notable entre los recién nacidos. Una intervención temprana durante el período de maduración auditiva permite minimizar los efectos en el desarrollo intelectual del infante. Se propone el desarrollo de un Registrador de Emisiones Otoacústicas Transientes como parte de un sistema de cribado neonatal basado en microcontroladores de alto rendimiento. La prueba consiste en aplicar periódicamente un estímulo tipo chasquido para obtener la respuesta coclear. Se promedian las señales adquiridas y se aplica la Transformada Rápida de Fourier. El espectro obtenido es dividido en bandas de media octava para analizar la correlación y la relación señal-ruido. Si estos parámetros son mayores que los umbrales de referencia en la mayoría de las bandas, se considera al paciente apto para el desarrollo normal. El firmware fue implementado sobre el procesador STM32F405 y evaluado con el simulador Baby Isao; obteniéndose una sensibilidad del 87.5 por ciento y una especificidad del 93.75 por ciento(AU)

Hearing loss is highly incident among newborns. Early intervention during the period of auditory maturation allows adequate levels of intellectual development to be achieved. The development of a Transient Otoacoustic Emissions Recorder is proposed as part of a neonatal screening system based on high-performance microcontrollers. The test consists of periodically applying a click stimulus to obtain the cochlear response. The acquired signals are averaged and the Fast Fourier Transform is applied. The spectrum obtained is divided into half-octave bands to assess the correlation as well as the signal-noise ratio. If these parameters are greater than the reference thresholds in most of the bands, the patient is considered suitable for normal cognitive development. The firmware was implemented on the STM32F405 processor and evaluated with the Baby Isao simulator; obtaining a sensitivity of 87.5 percent and a specificity of 93.75 percent(AU)
Descritores: Triagem Neonatal
Emissões Otoacústicas Espontâneas
Análise de Fourier
Perda Auditiva/epidemiologia
Limites: Humanos
Masculino
Feminino
Lactente
Responsável: CU1.1 - Biblioteca Médica Nacional


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Texto completo SciELO Chile
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Id: biblio-1058188
Autor: Hoyos Bachiloglu, Rodrigo; Sotomayor F, Cristian; Poli H, Cecilia.
Título: Inmunodeficiencia combinada severa: es tiempo de su detección precoz / Severe combined immunodeficiency: the time for newborn screening has come
Fonte: Rev. chil. pediatr;90(6):581-588, dic. 2019. tab.
Idioma: es.
Resumo: Las inmunodeficiencias primarias (IDP) son un conjunto de cerca de 350 enfermedades genéticas que afectan el funcionamiento del sistema inmunológico. Los avances en diagnóstico genético han permitido describir nuevos defectos en el sistema inmune, ampliando el espectro de manifestaciones de las IDP más allá de la susceptibilidad a infecciones. Aunque la mayoría de las IDP se presentan con infecciones recurrentes u oportunistas, un subgrupo puede presentarse por el desarrollo precoz de fenómenos autoinflamatorios, tumorales y, paradojalmente, la coexistencia de autoinmunidad e inmunodeficiencia en un mismo paciente. Al igual que sus manifestaciones clínicas, la severidad de las IDP es variable. La inmunodeficiencia combinada severa (IDCS), caracterizada por una falla en la respuesta humoral y celular, es una de las formas más graves de IDP y el único tratamiento curativo disponible en Latino-América es el trasplante de precursores hematopoyéticos. La IDCS es 100% letal durante los dos primeros años de vida si no se diagnostica y trata oportunamente. Por el contrario, si se trasplantan precozmente, estos pacientes pueden alcanzar una sobrevida normal. Pese a los avan ces en el diagnóstico de IDP que se han observado en nuestro país en los últimos años, los recursos diagnósticos no se encuentran disponibles en todas las regiones, lo que dificulta el reconocimiento temprano de la IDCS y otras IDP en grandes áreas del país. El objetivo de esta actualización es revisar conceptos generales sobre la fisiopatología de la IDCS, diagnóstico, manejo inicial y plantear la nece sidad de la implementación del tamizaje neonatal de IDCS en Chile.

Primary immunodeficiencies (PIDs) are a set of about 350 genetic disorders that affect the normal function of the immune system. Advances in genetic diagnosis have allowed the description of new defects in the immune system, broadening the clinical spectrum of PIDs' manifestations beyond susceptibility to infection. Although most PIDs present with recurrent or opportunistic infections, a subgroup of them may be recognized by the early development of auto-inflammatory events, tumors and, paradoxically, the coexistence of autoimmunity and immunodeficiency in the same patient. As their clinical manifestations, the severity of PIDs is highly variable. Severe combined immunodefi ciency (SCID), a PID that affects cellular and humoral immunity, is one of the most severe forms of PIDs and the only available curative treatment in Latin America is hematopoietic stem cells trans plantation. All patients affected by SCID die during the first two years of life if they are not diagnosed and treated opportunely. In contrast, early transplantation of patients with SCID can lead to excellent survival outcomes. Despite recent advances in the diagnosis of PIDs in Chile, diagnostic resources are not available throughout the country, making the early diagnosis of SCID and other forms of PID difficult in big areas of Chile. The objective of this article is to review general concepts on the patho physiology, diagnosis, and initial management of SCID and raise the need for the implementation of neonatal screening for SCID in Chile.
Descritores: Triagem Neonatal
Imunodeficiência Combinada Severa/diagnóstico
Diagnóstico Precoce
-Chile/epidemiologia
Imunodeficiência Combinada Severa/complicações
Imunodeficiência Combinada Severa/terapia
Imunodeficiência Combinada Severa/epidemiologia
Transplante de Células-Tronco Hematopoéticas
Limites: Humanos
Recém-Nascido
Responsável: CL1.1 - Biblioteca Central


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Id: biblio-1132572
Autor: Pinto, Elaine Soares Monteiro; Martinelli, Maria Cecília.
Título: Brainstem auditory evoked potentials with speech stimulus in neonates / Potenciais evocados auditivos de tronco encefálico por estímulo de fala em neonatos
Fonte: Braz. j. otorhinolaryngol. (Impr.);86(2):191-200, March-Apr. 2020. tab, graf.
Idioma: en.
Resumo: Abstract Introduction: Brainstem auditory evoked potentials in response to complex sounds, such as speech sounds, investigate the neural representation of these sounds at subcortical levels, and faithfully reflect the stimulus characteristics. However, there are few studies that utilize this type of stimulus; for it to be used in clinical practice it is necessary to establish standards of normality through studies performed in different populations. Objective: To analyze the latencies and amplitudes of the waves obtained from the tracings of brainstem auditory evoked potentials using speech stimuli in Brazilian neonates with normal hearing and without auditory risk factors. Methods: 21 neonates with a mean age of 9 days without risk of hearing loss and with normal results at the neonatal hearing screening were evaluated according to the Joint Committee on Infant Hearing protocols. Auditory evoked potentials were performed with speech stimuli (/da/ syllable) at the intensity of 80 dBNA and the latency and amplitude of the waves obtained were analyzed. Results: In the transient portion, we observed a 100% response rate for all analyzable waves (Wave I, Wave III, Wave V and Wave A), and these waves exhibited a latency <10 ms. In the sustained portion, Wave B was identified in 53.12% of subjects; Wave C in 75%; Wave D in 90.62%; Wave E in 96.87%; Wave F in 87.5% and Wave O was identified in 87.5% of subjects. The observed latency of these waves ranged from 11.51 ms to 52.16 ms. Greater similarity was observed for the response latencies, as well as greater amplitude variation in the studied group. Conclusions: Although the wave morphology obtained for brainstem evoked potentials with speech stimulation in neonates is quite similar to that of adults, a longer latency and greater variation in amplitude were observed in the waves analyzed.

Resumo Introdução: Os potenciais evocados auditivos de tronco encefálico para sons complexos, como, por exemplo, sons de fala, investigam a representação neural desses sons em níveis subcorticais e refletem com fidelidade as características do estímulo. No entanto, existem ainda poucos estudos que usam esse tipo de estímulo e para que possa ser usado na prática clínica é necessário estabelecer padrões de normalidade por meio de estudos em diferentes populações. Objetivo: Analisar as latências e as amplitudes das ondas obtidas nos traçados dos potenciais evocados auditivos de tronco encefálico por estímulo de fala em neonatos brasileiros com audição normal e sem risco auditivo. Método: Foram avaliados 21 neonatos com média de 9 dias, sem risco auditivo segundo o Joint Committe on Infant Hearing e com resultado normal para triagem auditiva neonatal. Fizeram-se potenciais evocados auditivos por estímulo de fala (sílaba /da/) na intensidade de 80 dBNA e analisaram-se a latência e a amplitude das ondas obtidas. Resultados: Na porção transiente observaram-se 100% de ocorrência de resposta para todas as ondas analisáveis (Onda I, Onda III, Onda V e Onda A) e esse conjunto de ondas apresentou latência inferior a 10 ms. Na porção sustentada a frequência de ocorrência da Onda B foi de 53,12%; da Onda C 75%; da Onda D 90,62%; da Onda E 96,87%; da Onda F 87,5% e da Onda O 87,5% e a latência observada dessas ondas variou de 11,51 ms a 52,16 ms. Observou-se maior similaridade nas latências das respostas e maior variação da amplitude no grupo estudado. Conclusões: Embora a morfologia das ondas obtidas para os potenciais evocados de tronco encefálico para o estímulo de fala em neonatos seja bastante semelhante às dos adultos, observou-se maior latência e maior variação da amplitude das ondas analisáveis.
Descritores: Tempo de Reação/fisiologia
Fala/fisiologia
Estimulação Acústica/métodos
Potenciais Evocados Auditivos do Tronco Encefálico/fisiologia
-Triagem Neonatal
Limites: Humanos
Masculino
Feminino
Recém-Nascido
Responsável: BR1.1 - BIREME


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Montovani, Jair Cortez
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Id: biblio-1022346
Autor: Silva, Daniela Polo Camargo da; Ribeiro, Georgea Espindola; Montovani, Jair Cortez.
Título: Influência do Apgar baixo na primeira triagem auditiva do neonato / Influence of low Apgar on the first hearing screening of the neonate
Fonte: ABCS health sci;44(2):103-107, 11 out 2019. tab.
Idioma: pt.
Resumo: INTRODUÇÃO: Diversos são os indicadores de risco para deficiência auditiva. O índice de Apgar, quando menor que quatro no primeiro minuto e/ou menor que seis no quinto minuto de vida, é considerado um indicador de risco para surdez. Tais valores estão associados à ocorrência de asfixia, que é uma das causas mais comuns de lesão e morte celular e, desta forma, algum dano ao sistema auditivo pode ocorrer. OBJETIVO: Verificar a influência do indicador de risco para deficiência auditiva, Apgar baixo, na primeira avaliação auditiva do neonato. MÉTODOS: Estudo clínico transversal, realizado em hospital público no período de janeiro de 2012 a dezembro de 2016. Os neonatos realizaram a avaliação audiológica por meio do exame de emissões otoacústicas evocadas por estímulo transiente (EOE-t). A relação entre Apgar baixo e "falha" nas EOE-t foi analisada por regressão logística simples. RESULTADOS: Foram avaliados 6.301 neonatos, desses 15,82% (n=996) tinham indicadores de risco para deficiência auditiva e 6,57% (n=415) obtiveram Apgar baixo. Apresentaram falha no exame de EOE-t, uni ou bilateral, 6,5% (n=415) dos neonatos triados. Outros indicadores de risco aumentaram as chances de "falha" na EOE-t, porém o Apgar baixo, isoladamente, aumentou as chances de "falha" em neonatos com peso ao nascimento maior que 1.500 g (OR: 1,58; p=0,02) e sem hemorragia peri-intraventricular (OR: 1,56; p=0,01). CONCLUSÃO: O índice de Apgar baixo foi o principal causador de "falha" na primeira avaliação auditiva dentre os neonatos com peso maior de 1.500 g e sem hemorragia peri-intraventricular.

INTRODUCTION: There are several risk indicators for hearing loss. The Apgar score, when less than four in the first minute and/or less than six in the fifth minute of life, is considered an indicator of risk for hearing loss. Such values are associated with the occurrence of asphyxia, which is one of the most common causes of cell death and injury and, therefore, some damage to the auditory system may occur. OBJECTIVE: To check the influence of risk indicator for hearing loss, low Apgar, in the first neonatal hearing evaluation. METHODS: Cross-sectional study conducted in a public hospital from January 2012 to December 2016. The neonates underwent hearing evaluation by examining transient-evoked otoacoustic emissions (TEOAE). The relation between low Apgar and "refer" in the TEOAE was analyzed by simple logistic regression. RESULTS: A total of 6,301 newborns were evaluated, of which 15.82% (n=996) had risk indicators for hearing loss and 6.57% (n=415) had with low Apgar. 6.5% (n=415) of the neonates screened showed failure of the EOE-t test, uni or bilateral. Others risk indicators increased the chances of "refer"; however, the presence of low Apgar alone increased the chances of "refer" in the TEOAE in newborns with birth weight greater than 1,500 g (OR: 1.58; p=0.02) and without peri-intraventricular hemorrhage (OR: 1.56; p=0.01). CONCLUSION: The low Apgar score was the mainly cause of "refer" on the first hearing evaluation among neonates with with birth weight greater than 1,500 g and without peri-intraventricular hemorrhage.
Descritores: Índice de Apgar
Triagem Neonatal
Indicador de Risco
Audição
Limites: Humanos
Masculino
Feminino
Recém-Nascido
Lactente
Responsável: BR1342.1 - Biblioteca da Escola de Enfermagem BENF


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Id: biblio-1141220
Autor: Melo, Wellington Maciel; Costa, Carla Nascimento; Amorim, Keyla Millena Lima da Silva; Costa, Ruth Silva Lima.
Título: Fenilcetonúria: perfil dos indivíduos diagnosticados no Acre / Phenylketonuria: profile of individuals diagnosed in Acre / Fenilcetonuria: perfil de los individuos diagnosticados en Acre
Fonte: J. Health NPEPS;5(2):351-362, set. 2020.
Idioma: pt.
Descritores: Fenilcetonúrias
Triagem Neonatal
Deficiência Intelectual
Responsável: BR1972.9 - DE - Departamento de Enfermagem


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Bento, Ricardo F
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Id: biblio-1051377
Autor: Sato, Luciene M; Moraes, Maria F B Bonadia de; Murano, Emi Z; Isaac, Myriam de L; Loch, Mariana M; Tsuji, Robinson K; Bento, Ricardo F; Pirana, Sulene.
Título: Distúrbios da Comunicação em Pacientes Pediátricos ­ um Algoritmo da Avaliação Audiológica / Communication Disorders in Pediatric Patients - An Algorithm of Audiological Evaluation
Fonte: Rev. Salusvita (Online);38(3):567-579, 2019.
Idioma: pt.
Resumo: Introdução: Foi instituído Teste de Triagem Auditiva Neonatal Universal (TANU). Crianças podem passar no teste e apresentar surdez tardia ou progressiva ou, ainda, serem portadoras de perdas leves e moderadas que não são observadas. Objetivo: Através deste relato de caso, discutir os exames auditivos pertinentes em cada situação e a orientação dos profissionais de saúde que primeiramente recebem estes pacientes. Descrição do Caso: O caso mostra a importância da avaliação da audição para auxílio no diagnóstico. Paciente foi encaminhado por quadro de atraso de linguagem e hipótese de perda auditiva. Apresentava dificuldades na interação social e alterações comportamentais. Avaliação audiológica foi normal, sendo feito diagnóstico de transtorno de espectro autista (TEA). Comentários: Pacientes com atraso e dificuldades na comunicação podem ser difíceis de avaliar, visto que muitos dos exames auditivos são subjetivos e dependem da interação do examinador com a criança. O caso relatado mostra uma das várias situações com que os profissionais podem se deparar e revela quais são os exames adequados para uma avaliação auditiva apropriada.

Introduction: Universal Newborn Hearing Screening (UNHS) Test was instituted to detect cases with higher probability of hearing loss. Children may pass the test and have late or progressive deafness or even mild and moderate losses that are not observed. Objective: To discuss, through this report of case, the pertinent auditory exams in each situation and the orientation of the health professionals who first receive these patients. Case Description: The case shows the importance of hearing evaluation for diagnostic assistance. Case 1 was referred for language delay and hypothesis of hearing loss. He presented difficulties in social interaction and behavioral changes. Audiological evaluation was normal, being diagnosed as Autistic Spectrum Disorder (ASD). Comments: Patients with delayed communication may be difficult to assess, since many of the auditory exams are subjective and depend on the interaction of the examiner with the child. The reported case presents one of the several situations that professionals may face and reveals what examinations are appropriate for an adequate auditory assessment.
Descritores: Deficiências do Desenvolvimento
-Distúrbios da Fala
Triagem Neonatal
Perda Auditiva
Tipo de Publ: Relatos de Casos
Responsável: BR36.1 - Biblioteca


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Id: lil-522608
Autor: Ferrer, Eduardo; Peñaloza, Angela; Sanchez, Paula.
Título: Evaluación pre y post implante del paciente con hipoacusia neurosensorial / Pre and post implant evaluation of the patient with sensorineural hearing loss
Fonte: Acta otorrinolaringol. cir. cabeza cuello;37(supl.2):165-172, jun. 2009. ilus.
Idioma: es.
Resumo: En la actualidad para el diagnostico de hipoacusia neurosensorial en niños recién nacidos se realizan una pruebas de tamizaje auditivo. Posteriormente para confirmar la perdida auditiva se realizan una batería de pruebas audiológicas con las cuales se obtienen los umbrales auditivos. Todos los pacientes deben ser valorados por el grupo interdisciplinario de implante coclear con el propósito de identificar el compromiso sensorial o neural donde se origina la lesión del paciente, los umbrales y habilidades auditivas, el nivel de desarrollo del lenguaje, su entorno familiar y la evaluación anatómica coclear que permita la inserción de un cable de electrodos y la estimulación eléctrica de la vía auditiva. El objetivo principal de un diagnostico temprano de la hipoacusia, es realizar una intervención inmediata con estimulación auditiva, preparándolos para el momento de la colocación del implante coclear. Una vez implantado, al paciente se le debe realizar un seguimiento tanto audiológico como del desarrollo de la percepción auditiva y del lenguaje para de esta forma determinar el beneficio del implante y realizar las modificaciones pertinentes tanto en la programación del implante como en las estrategias de rehabilitación.

Auditory screening tests are being performed nowadays in order to diagnose sensorineural hearing loss in new born babies. Later on and to be able to confirm the hearing loss, a set of auditory tests is conducted to obtain the auditory thresholds. It is necessary for the interdisciplinary cochlear implant group to appraise all patients in order to identify the extent of the sensory or neural damage where the patient's lesion has been originated, the auditory thresholds and skills, the level of development of the language, his / her family environment and the cochlear anatomic appraisal that allows for the insertion of an electrode array as well as the electric stimulation of the auditory way. The main objective of an early diagnose of hearing loss, is to perform an immediate intervention with auditory stimulation, preparing them for the moment when the cochlear implant is to be inserted. Once having received the implant, it is important to follow up on the patient both, from the auditory point of view and the development of the auditory and language perception so that it can be determined the extent to which the implant has brought benefits and perform the corresponding modifications both in the implant programming and the rehabilitation strategies.
Descritores: Implantes Cocleares
Perda Auditiva Neurossensorial
Triagem Neonatal
Limites: Recém-Nascido
Responsável: CO5.1 - Centro de Información y Conocimiento


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Id: lil-702237
Autor: Izquierdo, Juan Carlos; Muletones, Néstor; Jiménez Soracipa, Adriana Patricia; Zea Castro, Marilyn; Muñoz Aponte, Zulma Jinneth; León Chiquillo, Diana Alejandra; Beltrán Echeverri, María Luisa.
Título: Prevalencia de alteraciones auditivas detectadas mediante tamizaje en recién nacidos con factores de riesgo en la Unidad Neonatal del Hospital de San José / Prevalence of changes detected by hearing screening in infants with risk factors in the neonatal unit hospital of San Jose
Fonte: Acta otorrinolaringol. cir. cabeza cuello;41(2):111-116, abr.-jun. 2013. ilus.
Idioma: es.
Resumo: Propósito: Determinar la prevalencia de alteraciones auditivas detectadas a través de tamizaje en la población de recién nacidos con factores de riesgo, en la Unidad Neonatal (UCIN) del Hospital de San José. Materiales y métodos: Se trató de un estudio observacional descriptivo, tipo corte transversal, donde se tomaron 106 participantes con al menos un factor de riesgo para alteraciones auditivas. Se determinaron medidas de tendencia central, de dispersión, proporciones y frecuencias. Se establecieron asociaciones estadísticas a través de chi2 y F de Fisher. Resultados: La edad media gestacional de nacimiento fue de 35,5 semanas, peso promedio de 2.286 gramos. Con respecto al sexo, 59 (55,66%) fueron del masculino. Diez (9,52%) presentaron emisiones otoacústicas alteradas. Sobre los factores de riesgo, en 17 (16,50%) se encontraron bilirrubinas por encima de 20 mg/dl, a diez (20,83%) se les realizó exanguinotransfusión, 17 (16,19%) se diagnosticaron con Storch, seis (5,83%) presentaron alteraciones craneofaciales y a 67 (63,81%) se les administró al menos un ototóxico. Se encontró una asociación estadísticamente significativa entre hipoacusia y el peso (p = 0,005), alteraciones craneofaciales (p = 0,044) e historia de infecciones maternoperinatales (Storch) (p = 0,002). Conclusiones: Se debe continuar con la investigación de los factores de riesgo para el desarrollo de hipoacusia en nuestra población, con el fin de identificarlos tempranamente y establecer un proceso de rehabilitación adecuado. Conviene implementar un programa de tamizaje auditivo obligatorio...

Purpose: To determine the prevalence of hearing impairment detected through screening in the newborn population with risk factors in the Neonatal Unit (NICU) of the hospital san Jose Materials and Methods: This was anobservational study descriptive, cross-sectional type. Wherethey took 106 Participants with at least one risk factor alterations hearing. Measures of central tendency were determined proportions and frequency dispersion. Associations were established statistics through chi2 and F ficher. Results: Mean birth gestational age was 35.5 weeks average weight of 2,286 grams Regarding gender, 59 (55.56 %) were male Ten (9.52 %) had emissions altered otoacoustic. On risk factors in 17 (16.50 %) bilirubin were found above 20mg/ dl, ten (20.83 %) underwent exchange transfusion, 17 (16.19 %) were diagnosed with. Storch, six (5.83 %) had craniofacial abnormalities and 67 (63.81 %) were given at least an ototoxic. It wasfound a statistically significant association between hearing loss andweight (p-0, 005) craniofacial abnormalities (p-0, 044) andhistory of maternoperinatales infections (Storch) (P-0, 002). Conclusions: we must continue the investigation of the factorsrisk for the development of hearing loss in our population withto temporarily identify and establish a process appropriate rehabilitation. Should implement a mandatory hearing screening...
Descritores: Emissões Otoacústicas Espontâneas
Fatores de Risco
Perda Auditiva
Triagem Neonatal
Limites: Recém-Nascido
Responsável: CO361.9


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Texto completo SciELO Brasil
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Id: lil-792946
Autor: Fu, Chunyun; Zheng, Haiyang; Zhang, Shujie; Chen, Yun; Su, Jiasun; Wang, Jin; Xie, Bobo; Hu, Xuyun; Fan, Xin; Luo, Jingsi; Li, Chuan; Chen, Rongyu; Shen, Yiping; Chen, Shaoke.
Título: Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism
Fonte: Arch. endocrinol. metab. (Online);60(4):323-327, Aug. 2016. tab, graf.
Idioma: en.
Projeto: National Natural Science Foundation of China; . Key Projects of Guangxi Health Department.
Resumo: ABSTRACT Objective Pendred syndrome (PS) is an autosomal recessive disorder characterised by sensorineural hearing loss and thyroid dyshormonogenesis. It is caused by biallelic mutations in the SLC26A4 gene encoding for pendrin. Hypothyroidism in PS can be present from birth and therefore diagnosed by neonatal screening. The aim of this study was to examine the SLC26A4 mutation spectrum and prevalence among congenital hypothyroidism (CH) patients in the Guangxi Zhuang Autonomous Region of China and to establish how frequently PS causes hearing impairment in our patients with CH. Subjects and methods Blood samples were collected from 192 CH patients in Guangxi Zhuang Autonomous Region, China, and genomic DNA was extracted from peripheral blood leukocytes. All exons of the SLC26A4 gene together with their exon-intron boundaries were screened by next-generation sequencing. Patients with SLC26A4 mutations underwent a complete audiological evaluation including otoscopic examination, audiometry and morphological evaluation of the inner ear. Results Next generation sequencing analysis of SLC26A4 in 192 CH patients revealed five different heterozygous variations in eight individuals (8/192, 4%). The prevalence of SLC26A4 mutations was 4% among studied Chinese CH. Three of the eight were diagnosed as enlargement of the vestibular aqueduct (EVA), no PS were found in our 192 CH patients. The mutations included one novel missense variant p.P469S, as well as four known missense variants, namely p.V233L, p.M147I, p.V609G and p.D661E. Of the eight patients identified with SLC26A4 variations in our study, seven patients showed normal size/location of thyroid gland, and one patients showed a decreased size one. Conclusions The prevalence of SLC26A4 pathogenic variants was 4% among studied Chinese patients with CH. Our study expanded the SLC26A4 mutation spectrum, provided the best estimation of SLC26A4 mutation rate for Chinese CH patients and indicated the rarity of PS as a cause of CH.
Descritores: Proteínas de Membrana Transportadoras/genética
Testes Genéticos/métodos
Bócio Nodular/genética
Perda Auditiva Neurossensorial/genética
Mutação
-Tiroxina/sangue
Aqueduto Vestibular/anormalidades
Tireotropina/sangue
China/epidemiologia
Prevalência
Estudos de Coortes
Triagem Neonatal/métodos
Transportadores de Sulfato
Bócio Nodular/epidemiologia
Perda Auditiva Neurossensorial/epidemiologia
Limites: Humanos
Masculino
Feminino
Recém-Nascido
Responsável: BR1.1 - BIREME


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Id: lil-798184
Autor: Matos, Diana M; Ramalho, Roberto J R; Carvalho, Bruno M; Almeida, Maria Augusta C T; Passos, Luciana F D; Vasconcelos, Talmay T S; Melo, Enaldo V; Oliveira, Carla R P; Santos, Elenilde G; Resende, Karla F; Aguiar-Oliveira, Manuel H.
Título: Evolution to permanent or transient conditions in children with positive neonatal TSH screening tests in Sergipe, Brazil
Fonte: Arch. endocrinol. metab. (Online);60(5):450-456, Oct. 2016. tab, graf.
Idioma: en.
Resumo: ABSTRACT Objectives To assess the evolution to permanent or transient conditions in children with positive neonatal TSH tests in Sergipe, Brazil, from 2004 to 2010. Subjects and methods Out of 193,794 screened newborns, 713 presented a neonatal TSH level higher than the local cutoff (5.2 µU/mL). From the confirmatory serum TSH values, the children were diagnosed with initial congenital hypothyroidism (CH) or suspect CH. From the evolution, they were classified as permanent CH, hyperthyrotropinemia, or transient TSH elevation. The mean incidence of each final condition was calculated for the total period of time. Results The initial diagnosis included 37 CH (18.1%) and 167 suspect CH (81.9%) cases. The final diagnosis included 46 cases of permanent CH (22.5%), 56 of hyperthyrotropinemia (27.5%), and 102 of transient TSH elevation (50.0%). Out of the 37 cases of initial CH, 23 (62.2%) had permanent CH, nine (24.3%) had hyperthyrotropinemia, and five (13.5%) had transient TSH elevation. Out of the 167 suspect CH cases, 23 (13.8%) had permanent CH, 47 (28.1%) had hyperthyrotropinemia and 97 (58.1%) had transient TSH elevation. The mean incidence after the follow up was 1:4,166 for permanent CH, 1:3,448 for hyperthyrotropinemia, and 1:1,887 for transient TSH elevation. Eighty-six percent of the children with an initial diagnosis of CH and 41.9% with suspect CH had a permanent condition (CH or hyperthyrotropinemia). Conclusions The follow-up of children with an initial diagnosis of CH or suspect CH is necessary to determine whether the disorder is permanent because predicting the evolution of the condition is difficult.
Descritores: Tireotropina/sangue
Triagem Neonatal/métodos
Hipotireoidismo Congênito/diagnóstico
Hipotireoidismo Congênito/sangue
-Padrões de Referência
Valores de Referência
Tiroxina/sangue
Fatores de Tempo
Brasil/epidemiologia
Incidência
Valor Preditivo dos Testes
Estudos Retrospectivos
Seguimentos
Progressão da Doença
Hipotireoidismo Congênito/fisiopatologia
Hipotireoidismo Congênito/epidemiologia
Limites: Humanos
Masculino
Feminino
Recém-Nascido
Responsável: BR1.1 - BIREME



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