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1.
Respirar (Ciudad Autón. B. Aires) ; 16(1): 79-83, Marzo 2024.
Article in Spanish | LILACS, UNISALUD, BINACIS | ID: biblio-1551228

ABSTRACT

Se presenta el caso de un niño de 3 años con diagnóstico de asma, rinitis alérgica, características craneofaciales dismórficas e infecciones respiratorias altas y bajas recurrentes, manejado como asma desde un inicio. Como parte del estudio de comorbilidades, se decide realizar una prueba del sudor que sale en rango intermedio y más tarde se encuentra una mutación, donde se obtiene un resultado positivo para una copia que se asocia a fibrosis quística. Se revisará el caso, así como el diagnóstico, clínica y tratamiento del síndrome metabólico relacionado con el regulador de conductancia transmembrana de fibrosis quística (CRMS).


We present the case of a 3-year-old boy with a diagnosis of asthma, allergic rhinitis, dysmorphic craniofacial characteristics and recurrent upper and lower respiratory infections, managed as asthma from the beginning. As part of the study of comorbidi-ties, it was decided to carry out a sweat test that came out in the intermediate range and later one mutation was found, where a positive result was obtained for a copy that is associated with cystic fibrosis. The case will be reviewed, as well as the diagnosis, symptoms and treatment of the metabolic syndrome related to the cystic fibrosis trans-membrane conductance regulator (CRMS).


Subject(s)
Humans , Male , Child, Preschool , Asthma/diagnosis , Respiratory Sounds/diagnosis , Cough/diagnosis , Cystic Fibrosis/diagnosis , Metabolic Syndrome/diagnosis , Rhinitis, Allergic/diagnosis , Respiratory Tract Infections , Radiography, Thoracic , Comorbidity , Neonatal Screening , Cystic Fibrosis Transmembrane Conductance Regulator/genetics
2.
Acta Medica Philippina ; : 69-73, 2024.
Article in English | WPRIM | ID: wpr-1016685

ABSTRACT

@#Cystic Fibrosis (CF) is a rare condition among Asians and has not been reported in the Philippines as of this time. The inclusion of this disease in the Philippines’ Expanded Newborn Screening Program (ENBS) has provided this Filipino family the opportunity of early detection and appropriate management of this condition that could ensure the survival of the proband and his other surviving siblings. Here we present a case of a 24-month-old male who had a positive Expanded Newborn Screening (ENBS) test for cystic fibrosis and eventually underwent further tests to confirm a homozygous deletion of exons 1 - 2 of the CFTR gene. He subsequently had recurrent pneumonia but is being managed by a team consisting of a pulmonologist, gastroenterologist, and a metabolic dietitian. The proband had an older sibling whose Newborn Screening (NBS) test was normal and who eventually expired from recurrent bouts of pneumonia. This sibling was never managed as a case of cystic fibrosis. Implications on the diagnosis and management of CF in the local setting is also discussed. The importance of an appropriate CF panel customized to the local population should be reiterated and carrier testing should be encouraged to help with proper family counseling for future pregnancies for the family involved.


Subject(s)
Cystic Fibrosis , Neonatal Screening , Philippines
3.
Article in English | LILACS | ID: biblio-1529388

ABSTRACT

Abstract Introduction: cystic fibrosis newborn screening must enable its earlier diagnosis, which may enhance outcomes. This study was a series case of delayed-diagnosis children submitted to cystic fibrosis newborn screening. Description: fourteen children were included; eight (57.1%) were due to false-negative screening, while six (42.9%) were due to processing errors. Two samples collected after 30 days of life were incorrectly classified as negative, and four infants with a positive test could not be located due to screening processing errors. Cystic fibrosis diagnosis was confirmed at a median (IQR) age of 5.3 (4.2-7.4) months. Poor nutritional status was the most prevalent clinical sign at diagnosis, being present in 78.6% of infants. The mean (SD) weight-for-length and length-for-age Z-scores were -3.46 (0.84) and -3.99 (1.16), respectively. Half of the children had Pseudo-Bartter syndrome, and 42.9% had breathing difficulties. Twelve children (85.7%) required hospitalization, with a median (IQR) length of stay of 17.0 (11.5-26.5) days. Discussion: newborn screening had some faults, from incorrect collections to inefficient active search. Early identification of these children in which screening was unsatisfactory is essential, emphasizing the importance and efforts to not miss them. In the case of a failed test, healthcare professionals must be prepared to recognize the main symptoms and signs of the disease.


Resumo Introdução: a triagem neonatal para fibrose cística deve contribuir para diagnóstico precoce e melhor prognóstico da doença. O estudo é uma série de casos com lactentes submetidos à triagem, porém com diagnóstico tardio da doença. Descrição: quatorze crianças foram incluídas; oito (57,1%) com triagem falso-negativo e seis (42,9%) com erros processuais na triagem neonatal. Duas amostras foram coletadas tardiamente, sendo incorretamente classificadas como negativas e quatro lactentes com triagem positiva não foram localizados, por erros na busca ativa. Confirmou-se o diagnóstico da fibrose cística com idade mediana (IIQ) de 5,3 (4,2-7,4) meses. O Comprometimento nutricional precoce foi o sinal clínico mais prevalente ao diagnóstico, presente em 78,6% das crianças. Os Z escores médios (SD) do peso para altura e altura para idade foram -3,46 (0,84) e -3,99 (1,16), respectivamente. Metade das crianças teve síndrome de Pseudo-Bartter e 42,9% dificuldade respiratória. Doze crianças (85,7%) precisaram hospitalização com tempo mediano de permanência de 17 dias. Discussão: a triagem neonatal para fibrose cística apresentou falhas, desde testes falso-negativos, coletas incorretas, até problemas com a busca ativa. Entretanto, o diagnóstico ágil é essencial e os profissionais de saúde devem reconhecer os sintomas e sinais precoces da doença, mesmo quando a triagem neonatal não for satisfatória.


Subject(s)
Humans , Infant, Newborn , Infant , Neonatal Screening , Cystic Fibrosis/diagnosis , Diagnostic Errors , Delayed Diagnosis/statistics & numerical data , Brazil , National Health Programs
4.
Distúrb. comun ; 35(3): 60822, 25/10/2023.
Article in English, Portuguese | LILACS | ID: biblio-1526063

ABSTRACT

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)


Subject(s)
Humans , Male , Female , Infant, Newborn , Evoked Potentials, Auditory, Brain Stem/physiology , Neonatal Screening/methods , Cross-Sectional Studies , Early Diagnosis , Hearing Loss/diagnosis , Hearing Loss/etiology
5.
San Salvador; MINSAL; ago. 18, 2023. 100 p. ilus, graf, tab.
Non-conventional in Spanish | BISSAL, LILACS | ID: biblio-1451591

ABSTRACT

El Ministerio de Salud, en el contexto de la Política Nacional de Apoyo al Desarrollo Infantil Temprano "Crecer Juntos" y en consonancia con la reciente Ley Nacer con Cariño para un Parto Respetado y un Cuidado Cariñoso y Sensible para el Recién Nacido, emanada desde el Despacho de La primera dama, decide implementar estrategias para disminuir la morbimortalidad, incluyendo el abordaje de aquellas situaciones o condiciones que afecten el neurodesarrollo en los niños y niñas. En este sentido, se ha tomado a bien, ampliar el tamizaje metabólico neonatal para incluir la detección de los errores congénitos del metabolismo más frecuentes como son: hipotiroidismo congénito, fibrosis quística, fenilcetonuria, tirosinemia neonatal transitoria, enfermedad de jarabe de arce e hiperplasia suprarrenal congénita. Por lo anterior, los presentes lineamientos técnicos de tamizaje metabólico neonatal, describen las disposiciones para realizar la toma de muestra para la detección, confirmación diagnóstica, tratamiento oportuno, seguimiento, monitoreo y evaluación en los establecimientos del Sistema Nacional Integrado de Salud (SNIS)


The Ministry of Health, in the context of the National Early Childhood Development Support Policy "Growing Together" and in line with the recent Birth with Affection Act for Respected Childbirth and Caring and Sensitive Care for the Newborn, from the Office of the First Lady, decides to implement strategies to reduce morbidity and mortality, including addressing those situations or conditions that affect neurodevelopment in children. In this sense, we have taken good care to expand the neonatal metabolic screening to include the detection of the most frequent congenital errors of metabolism such as: congenital hypothyroidism, cystic fibrosis, phenylketonuria, transient neonatal tyrosinemia, maple syrup disease and congenital adrenal hyperplasia. Therefore, the present technical guidelines for neonatal metabolic screening describe the arrangements for sampling for detection, diagnostic confirmation, timely treatment, monitoring, monitoring and evaluation in the National Integrated Health System


Subject(s)
Neonatal Screening , El Salvador
6.
Med. infant ; 30(2): 96-101, Junio 2023. tab
Article in Spanish | LILACS, UNISALUD, BINACIS | ID: biblio-1443406

ABSTRACT

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)


Subject(s)
Humans , Infant, Newborn , Predictive Value of Tests , Gestational Age , Neonatal Screening/methods , Adrenal Hyperplasia, Congenital/diagnosis , Adrenal Hyperplasia, Congenital/blood , 17-alpha-Hydroxyprogesterone/blood
7.
ABCS health sci ; 48: e023205, 14 fev. 2023. ilus, tab
Article in English | LILACS | ID: biblio-1414611

ABSTRACT

INTRODUCTION: Hearing impairment compromises the child's language development and learning process. Neonatal screening, diagnosis, and hearing intervention are actions that must be carried out for comprehensive hearing healthcare in childhood. OBJECTIVE: To assess access to children's hearing healthcare services and the factors that influence access. METHODS: Cross-sectional study with 104 children who underwent neonatal hearing screening and were referred for diagnosis. The sources were the databases, where demographic, social, and variables related to the access and use of health services were collected. Percentage distribution of categorical variables and measures of central tendency and dispersion of continuous variables were performed. To assess the association of dependent and independent variables, the Chi-square test was used with a 5% significance level. RESULTS: Only 56 (53.3%) of screened children attended hearing healthcare services. Of these, 41 went to the studied service, and 24 completed the diagnosis. Three children had hearing loss and were candidates for cochlear implants. The mean age at diagnosis was 211 days and the standard deviation was 155.9 days. The duration of diagnosis was 135 days and the standard deviation was 143.2 days. There was no statistical significance between access to health services and the distance of the service, age, and education of the mother. CONCLUSION: There is a lack of access to the service and completion of the diagnosis and children are not assisted at appropriate ages. The mother's age and education and distance to the service did not influence access to and use of the service.


INTRODUÇÃO: A deficiência auditiva compromete o desenvolvimento da linguagem e o processo de aprendizagem na criança. A triagem neonatal, o diagnóstico e a intervenção auditiva são ações que devem ser realizadas para a atenção integral à saúde auditiva na infância. OBJETIVO: Avaliar o acesso aos serviços de saúde auditiva infantil e os fatores que influenciam no acesso. MÉTODOS: Estudo transversal com 104 crianças que realizaram a triagem auditiva neonatal e foram encaminhadas para diagnóstico. As fontes foram os bancos de dados, onde foram coletadas variáveis demográficas, sociais e relacionadas ao acesso e uso dos serviços de saúde. Foram realizadas a distribuição percentual das variáveis categóricas e medidas de tendência central e dispersão das variáveis contínuas. Para avaliar a associação das variáveis dependentes e independentes foi utilizado o teste Qui-quadrado com nível de 5% de significância. RESULTADOS: Apenas 56 (53,3%) crianças compareceram, dessas 41 foram para o serviço estudado, 24 concluíram o diagnóstico e 3 apresentaram deficiência auditiva. A média de idade no diagnóstico foi de 211 dias, com desvio padrão de 155,9 dias e a duração do diagnóstico foi de 135 dias, com desvio padrão de 143,2 dias. Não houve significância estatística entre o acesso ao serviço de saúde e a distância, idade e escolaridade da mãe. CONCLUSÃO: Existe uma evasão no acesso ao serviço e na conclusão do diagnóstico e as crianças não são assistidas em idades oportunas. A idade e escolaridade da mãe e a distância não influenciaram no acesso e uso ao serviço.


Subject(s)
Humans , Male , Female , Infant, Newborn , Child Health , Neonatal Screening , Social Determinants of Health , Health Services Accessibility , Hearing Loss , Brazil , Cross-Sectional Studies
8.
Article in English | WPRIM | ID: wpr-1009946

ABSTRACT

Newborn screening (NBS) plays a significant role in reducing the risk of birth defects. NBS in China began in the early 1980s. Under the protection of laws and regulations and the leadership of the national health administration, approved screening centers in public hospitals took the responsibility for publicity, screening, diagnosis, treatment, follow-up and management of birth defects. As of 2022, 31 provinces (autonomous regions and municipalities directly under the central government) have carried out NBS for phenylketonuria, congenital hypothyroidism, and hearing loss, 23 provinces have carried out screening for glucose-6-phosphate dehydrogenase (with a screening rate of 89.24%), and 24 provinces have carried out screening for congenital adrenal cortical hyperplasia (91.45% screening rate). Over the past four decades, screening techniques have evolved from bacterial inhibition, fluorescence analysis, and tandem mass spectrometry for the detection of biochemical markers to genetic testing, which has greatly contributed to the expansion of the types of diseases screened for. The combined use of metabolomics and genomics is currently being explored. Effective management and rigorous quality control of NBS are prerequisites for improving the quality and ensuring the accuracy of screening. The Quality Management System for Newborn Screening System Network (QMS-NBS), established by the National Center for Clinical Laboratories, covers all screening centers and related blood collection agencies. The operation of the QMS-NBS allows the quality and performance of screening to be transparent and measurable, ensuring the quality and efficiency of screening. This article provides an overview of the history of NBS, especially the evolution of policies for the NBS in China, the construction of screening institutions, the number of newborns screened, the incidence rates of screened diseases, the changes in screening technology, the expansion of new diseases screened for, and the quality control of NBS. Overall, the progress in NBS in China has not only benefited from the development and standardization at the technological level, but also benefited from the construction of policies, regulations and ethics.


Subject(s)
Infant, Newborn , Humans , Neonatal Screening , Phenylketonurias , Genetic Testing , Congenital Hypothyroidism , China
9.
Article in English | WPRIM | ID: wpr-1009945

ABSTRACT

OBJECTIVES@#To retrospectively analyze the variation and characteristics of phenylalanine hydroxylase (PAH) gene, and to observe the long-term treatment effect and follow-up of newborns with PAH deficiency.@*METHODS@#Clinical data, treatment and follow-up results of 198 patients with PAH deficiency diagnosed by newborn screening in Jinan from 1996 to 2021 were collected. The genetic analysis of 55 patients with PAH deficiency diagnosed by newborn screening in Jinan and 213 patients referred from the surrounding areas of Jinan were summarized. Gene variations were checked by a customized Panel gene detection method. Blood phenylalanine-concentration and physical development indicators including height and weight were regularly monitored. Intellectual development was assessed using a neuropsychological development scale for patients aged 0-6 years and academic performance, and brain injury in patients was assessed using brain magnetic resonance imaging.@*RESULTS@#c.728G>A, c.158G>A, c.721C>T, c.1068C>A, c.611A>G variations were common in PAH gene. The genotype of c.158G>A variation is compound heterozygous variation, with mainly a mild hyperpheny-lalaninemia. 168 patients with PAH deficiency who were followed-up regularly had normal physical development without dwarfism or malnutrition. Among the 33 preschool patients who underwent mental development assessment, 2 were mentally retarded and the initial treatment age was older than 6 months. Nine patients with an average age of (17.13±2.42) years completed brain magnetic resonance imaging, one case was normal, and 8 cases were abnormal. There were patchy or patchy hyperintense foci near the bilateral lateral ventricles on T2WI, and the intellectual development was normal. Compared with the other eight patients, the blood phenylalanine concentration of the normal child was better and stably controlled within the ideal range.@*CONCLUSIONS@#c.728G>A, c.158G>A, c.721C>T, c.1068C>A, c.611A>G variations were common in PAH gene. After standardized treatment, most patients with PAH deficiency diagnosed by screening can obtain normal growth and intellectual development in adolescence, but there are different degrees of organic lesions in the cerebral white matter.


Subject(s)
Child , Child, Preschool , Adolescent , Humans , Infant, Newborn , Young Adult , Adult , Neonatal Screening , Follow-Up Studies , Retrospective Studies , Phenylketonurias/genetics , Phenylalanine Hydroxylase/genetics , Phenylalanine/therapeutic use , Mutation
10.
Article in English | WPRIM | ID: wpr-1009939

ABSTRACT

OBJECTIVES@#To analyze the results of neonatal screening for congenital hypothyroidism (CH) and hyperphenylalaninemia (HPA) in Zhejiang province from 1999 to 2022.@*METHODS@#A total of 11 922 318 newborns were screened from September 1999 and December 2022 in Zhejiang province. The blood thyroid stimulating hormone (TSH) levels were measured by a fluorescence method and blood phenylalanine (Phe) levels were measured by fluorescence method or tandem mass spectrometry. TSH≥9 μIU/mL was considered positive for CH, while Phe>120 μmol/L and/or Phe/Tyr ratio>2.0 were considered positive for HPA. The positive newborns in screening were recalled, and the gene variations were detected by high-throughput sequencing and MassARRAY tests.@*RESULTS@#The overall neonatal screening rate during 1999-2022 was 89.41% (11 922 318/13 333 929) and the screening rate was increased from 6.46% in 1999 to 100.0% in 2022. A total of 8924 cases of CH were diagnosed among screened newborns with an incidence rate of 1/1336. A total of 563 cases of HPA were diagnosed, including 508 cases of classic phenylketonuria (cPKU) and 55 cases of tetrahydrobiopterin deficiency (BH4D), with an incidence rate of 1/21 176. Ninety-seven out of 8924 cases of CH underwent genetic analysis. Gene mutations were detected in 9 CH related genes, the highest frequency mutations were found in DUOX2 gene (69.0%) with c.3329G>A (p.R1110Q) (18.2%) and c.1588A>T (p.K530X) (17.3%) as the hotspot mutations. There were 81 PAH gene variants detected in a total of 250 cases of cPKU, and c728G>A (p.R243Q) (24.4%), c.721C>T (p.R241C) (15.0%) were the hotspot mutations. Meanwhile 7 novel variants in PAH gene were detected: c.107C>A (p.S36*), c.137G>T (p.G46V), c.148A>G(p.K50E), c.285C>T (p.I95I), c.843-10delTTCC, exon4-7del and c.1066-2A>G. There were 12 PTS gene variants detected in 36 cases of BH4D, and c.259C>T (p.P87S) (31.9%) was the hotspot mutation.@*CONCLUSIONS@#The incident of CH has increased from 1999 to 2022 in Zhejiang province, and it is higher than that of national and global levels; while the incidence of HPA is similar to the national average. DUOX2 gene variation is the most common in CH patients; c.728G>A (p.R243Q) is the hotspot mutation in cPKU patients, while c.259C>T (p.P87S) is the hotspot mutation in BH4D patients.


Subject(s)
Humans , Infant, Newborn , Neonatal Screening , Dual Oxidases , Congenital Hypothyroidism/genetics , Phenylketonurias/genetics , Thyrotropin
11.
Article in English | WPRIM | ID: wpr-1009931

ABSTRACT

OBJECTIVES@#To investigate genotype-phenotype characteristics and long-term prognosis of neonatal carbamoyl phosphate synthetase 1 (CPS1) deficiency among children through newborn screening in Zhejiang province.@*METHODS@#The clinical and follow-up data of children with CPS1 deficiency detected through neonatal screening and confirmed by tandem mass spectrometry and genetic testing in Zhejiang Province Newborn Disease Screening Center from September 2013 to August 2023 were retrospectively analyzed.@*RESULTS@#A total of 4 056 755 newborns were screened and 6 cases of CPS1 deficiency were diagnosed through phenotypic and genetic testing. Ten different variations of CPS1 genewere identified in genetic testing, including 2 known pathogenic variations (c.2359C>T and c.1549+1G>T) and 8 unreported variations (c.3405-1G>T, c.2372C>T, c.1436C>T, c.2228T>C, c.2441G>A, c.3031G>A, c.3075T>C and c.390-403del). All patients had decreased citrulline levels (2.72-6.21 μmol/L), and varying degrees of elevated blood ammonia. The patients received restricted natural protein intake (special formula), arginine and supportive therapy after diagnosis, and were followed-up for a period ranging from 9 months to 10 years. Three patients experienced hyperammonemia, and one patient each had attention deficit hyperactivity disorder, transient facial twitching and increased muscle tone. One patient died, while the other five surviving patients had normal scores of the Ages & Stages Questionnaires (ASQ) and Griffiths Development Scales up to the present time; 4 cases had combined height or weight lag and one case was normal in height and weight.@*CONCLUSIONS@#Low citrulline levels and hyperammonemia are common in CPS1 deficiency patients in Zhejiang. Most gene variants identified were specific to individual families, and no hotspot mutations were found. Early diagnosis through newborn screening and following standardized treatment can significantly improve the prognosis of the patients.


Subject(s)
Child , Humans , Infant, Newborn , Carbamoyl-Phosphate Synthase I Deficiency Disease/therapy , Neonatal Screening , Follow-Up Studies , Hyperammonemia , Citrulline/genetics , Retrospective Studies , Mutation
12.
Article in Chinese | WPRIM | ID: wpr-1009323

ABSTRACT

OBJECTIVE@#To explore the disease spectrum for abnormal 3-hydroxyisovalerylcarnitine (C5OH) metabolism identified through newborn screening and clinical diagnosis patients and the key points for differential diagnosis so as to raise the awareness of pediatricians for such diseases.@*METHODS@#Clinical data of 85 neonates with abnormal C5OH metabolism identified from February 2004 to January 2022 at Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine were collected. Their clinical manifestations and results of tandem mass spectrometry (MS/MS), gas chromatography mass spectrometry (GC-MS) and genetic testing were retrospectively analyzed.@*RESULTS@#Among the 85 cases, 46 (54.1%) were identified by neonate screening, whilst 39 (45.9%) were clinically diagnosed patients. Five diseases were diagnosed, including 28 cases with multiple carboxylase deficiency (MCD, 32.9%), 29 cases with 3-methylcrotonyl-coenzymeAcarboxylasedeficiency (MCCD, 34.1%), 4 cases with 3-methylglutaconic acid (3-MGA, 4.7%), 7 cases with 3-hydroxy-3-methylglutaric acid (3-HMG, 8.2%), and 17 cases with beta-ketothiolase deficiency (BKD, 20.0%). The disorders were characterized by sudden onset, anorexia, vomiting, diarrhea, abnormal breathing, consciousness disorder, spasm and developmental delay.@*CONCLUSION@#Among newborns with abnormal C5OH metabolism, MCCD is the most common disorder, which was followed by BKD and MCD. For patients with abnormal C5OH metabolism, MCD is the most common, followed by BKD and 3-HMG. C5OH related diseases have great heterogeneity. Combination of blood acylcarnitine levels, urinary organic acid levels and genetic testing based on clinical characteristics can help to attain the diagnosis.


Subject(s)
Humans , Infant, Newborn , China , Neonatal Screening , Retrospective Studies , Tandem Mass Spectrometry/methods
13.
Article in Chinese | WPRIM | ID: wpr-970896

ABSTRACT

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.


Subject(s)
Humans , Infant, Newborn , Amino Acid Metabolism, Inborn Errors/genetics , Carnitine , Neonatal Screening/methods
14.
Article in Chinese | WPRIM | ID: wpr-981843

ABSTRACT

Methylmalonic acidemia (MMA) is a series of rare inherited organic acid metabolic disorders with variable and nonspecific clinical manifestations, in particular neurological symptoms such as vomiting, lethargy, etc. Even with timely treatment, patients may still have various degrees of neurological complications and can even die. The prognosis is mainly related to the type of genetic variants, level of metabolites, newborn screening, onset of disease and early initiation of treatment. This article has reviewed the prognosis of patients with various types of MMA and factors that may affect it.


Subject(s)
Infant, Newborn , Humans , Amino Acid Metabolism, Inborn Errors/complications , Prognosis , Mutation , Neonatal Screening , Propionic Acidemia
15.
Article in Chinese | WPRIM | ID: wpr-981828

ABSTRACT

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.


Subject(s)
Infant, Newborn , Humans , Connexins/genetics , Retrospective Studies , Deafness/genetics , Connexin 26/genetics , Neonatal Screening/methods , Mutation , Genetic Testing/methods , China/epidemiology , Hearing , DNA Mutational Analysis
16.
Article in Chinese | WPRIM | ID: wpr-981824

ABSTRACT

OBJECTIVE@#To explore the clinical and genetic characteristics of four patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD).@*METHODS@#Four children who had presented at the Children's Hospital Affiliated to Zhengzhou University between August 2019 and August 2021 were selected as the study subjects. Clinical data of the children were collected. The children were subjected to whole exome sequencing (WES).@*RESULTS@#All of the four children were diagnosed with MCADD. Blood amino acid and ester acyl carnitine spectrum test showed that the concentration of octanoyl carnitine (C8) was significantly increased. The main clinical manifestations included poor mental response (3 cases), intermittent diarrhea with abdominal pain (1 case), vomiting (1 case), increased transaminase (3 cases), and metabolic acidosis (2 cases). Five variants were identified by genetic testing, among which c.341A>G (p.Y114C) was unreported previously. Three were missense variants, one was frameshift variant and one was splicing variant.@*CONCLUSION@#The clinical heterogeneity of MCADD is obvious, and the severity of the disease may vary. WES can assist with the diagnosis. Delineation of the clinical symptoms and genetic characteristics of the disease can facilitate early diagnosis and treatment of the disease.


Subject(s)
Child , Humans , Acyl-CoA Dehydrogenase/genetics , Carnitine , Genetic Testing , Lipid Metabolism, Inborn Errors/genetics , Neonatal Screening
17.
Article in Chinese | WPRIM | ID: wpr-981801

ABSTRACT

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.


Subject(s)
Child , Infant, Newborn , Humans , Female , Prospective Studies , Connexins/genetics , Connexin 26/genetics , Glucosephosphate Dehydrogenase Deficiency , Mutation , Sulfate Transporters/genetics , DNA Mutational Analysis , Genetic Testing/methods , Deafness/genetics , Neonatal Screening/methods , Hearing Loss, Sensorineural/genetics , High-Throughput Nucleotide Sequencing , Solute Carrier Family 22 Member 5/genetics
18.
Acta Medica Philippina ; : 51-55, 2023.
Article in English | WPRIM | ID: wpr-980494

ABSTRACT

Background@#Hemoglobinopathies as a group is one of the most common conditions confirmed through the newborn screening (NBS) program of the Philippines. This led to the increased participation of pediatric hematologists in the NBS program.@*Objective@#The aim of the study was to assess newborn screening acceptance and knowledge of pediatric hematologists using an online questionnaire.@*Method@#Members of the Philippine Society of Pediatric Hematology (PSPH), who are practicing pediatric hematologists in the Philippines, were invited to answer an online questionnaire.@*Results@#Sixty members of the PSPH (65.2%) answered the survey. All the respondents are familiar with the newborn screening program. Fifty-seven respondents (95 %) have already managed a case of hemoglobinopathy identified through the newborn screening program. Differences in the approach to management and level of confidence with diagnostic test result interpretation have been noted. General themes of their concerns include being unaware of the protocol, concerns on delays in confirmatory tests, request for guidelines on follow-up, and incongruence of results with clinical picture.@*Conclusion@#The information collected may be used to develop strategies to better equip our pediatric hematologists and assist the PSPH standardize management protocols for hemoglobinopathies.


Subject(s)
Hemoglobinopathies , Neonatal Screening
19.
Acta Medica Philippina ; : 73-84, 2023.
Article in English | WPRIM | ID: wpr-988875

ABSTRACT

Objectives@#This study explores the potential of the HeLe Service Delivery Model, a community-based newborn hearing screening (NHS) program supported by a web-based referral system, in improving provision of hearing care services. @*Methods@#This prospective observational study evaluated the HeLe Service Delivery Model based on records review and user perspectives. We collected system usage logs from July to October 2018 and data on patient outcomes. Semi-structured interviews and review of field reports were conducted to identify implementation challenges and facilitating factors. Descriptive statistics and content analysis were used to analyze quantitative and qualitative data, respectively. @*Results@#Six hundred ninety-two (692) babies were screened: 110 in the RHUs and 582 in the Category A NHS hospital. Mean age at screening was 1.4±1.05 months for those screened in the RHU and 0.46±0.74 month for those in the Category A site. 47.3% of babies screened at the RHU were ≤1 month old in contrast to 86.6% in the Category A hospital. A total of 10 babies (1.4%) received a positive NHS result. Eight of these ten patients were referred via the NHS Appointment and Referral System; seven were confirmed to have bilateral profound hearing loss, while one patient missed his confirmatory testing appointment. The average wait time between screening and confirmatory testing was 17.1±14.5 days. Facilitating factors for NHS implementation include the presence of champions, early technology adopters, legislations, and capacity-building programs. Challenges identified include perceived inconvenience in using information systems, cost concerns for the patients, costly hearing screening equipment, and unstable internet connectivity. The lack of nearby facilities providing NHS diagnostic and intervention services remains a major block in ensuring early diagnosis and management of hearing loss in the community. @*Conclusion@#The eHealth-enabled HeLe Service Delivery Model for NHS is promising. It addresses the challenges and needs of community-based NHS by establishing a healthcare provider network for NHS in the locale, providing a capacity-building program to train NHS screeners, and deploying health information systems that allows for documentation, web-based referral and tracking of NHS patients. The model has the potential to be implemented on a larger scale — a deliberate step towards universal hearing health for all Filipinos.


Subject(s)
Neonatal Screening , Hearing Loss , Health Information Systems , Community Health Services , Delivery of Health Care
20.
Acta Medica Philippina ; : 15-20, 2023.
Article in English | WPRIM | ID: wpr-988868

ABSTRACT

Background@#Universal newborn hearing screening is mandated in the Philippines through the Universal Newborn Hearing Screening and Intervention Act of 2009 (RA 9709). Newborn hearing screening (NBHS) centers are required to perform screening tests, compile and submit data on screened newborns, and advise parents on the subsequent steps after NBHS.@*Objective@#The study aimed to conduct a survey of the implementation of the Universal Newborn Hearing Screening and Intervention Program (UNHSIP) in the different regions of the country; and assess the information technology (IT) capabilities of hearing centers.@*Methods@#Fifty-one NBHS centers across twelve regions were surveyed through on-site inspections in 2016. Data was gathered on the centers’ testing capability, staffing, access to specialists, use of local protocols, connectivity, and IT capabilities. @*Results@#All surveyed centers followed the recommended protocols of the Manual of Operations of the Universal Newborn Hearing Screening and Intervention Act of 2009 (RA 9709). Among the 12 regions visited, only five (41.67%) had Category C centers with confirmatory testing and early amplification services as recommended. Majority of facilities (96.1%) were staffed by trained and certified personnel. A small percentage had access to subspecialists such as clinical audiologists (39.2%) and speech-language pathologists (23.5%). All facilities had computer access, but only 58.8% had internet access. Majority (94.1%) of the centers visited were not using the recommended data submission methods, specifically the use of registry cards and the online registry. Only 27.5% of centers had data on newborns who underwent confirmatory testing or early intervention. @*Conclusion@#Facilities were found to be compliant to NBHS screening protocols and majority complied with certification requirements for staff; but were found to be non-compliant with use of registry cards or the online registry. Majority of centers were able to contact the parents of neonates who did not pass newborn screening, but had no system to track outcomes. Lack of confirmatory and early intervention services in identified areas emphasize the need for development of regional centers. It is recommended that measures to improve the utilization of the online registry are taken.


Subject(s)
Neonatal Screening
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