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1.
Clin Lab ; 70(5)2024 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-38747911

RESUMO

BACKGROUND: This study aims to evaluate the ability of laboratories to perform spinal muscular atrophy (SMA) genetic testing in newborns based on dried blood spot (DBS) samples, and to provide reference data and advance preparation for establishing the pilot external quality assessment (EQA) scheme for SMA genetic testing of newborns in China. METHODS: The pilot EQA scheme contents and evaluation principles of this project were designed by National Center for Clinical Laboratories (NCCL), National Health Commission. Two surveys were carried out in 2022, and 5 batches of blood spots were submitted to the participating laboratory each time. All participating laboratories conducted testing upon receiving samples, and test results were submitted to NCCL within the specified date. RESULTS: The return rates were 75.0% (21/28) and 95.2% (20/21) in the first and second surveys, respectively. The total return rate of the two examinations was 83.7% (41/49). Nineteen laboratories (19/21, 90.5%) had a full score passing on the first survey, while in the second survey twenty laboratories (20/20, 100%) scored full. CONCLUSIONS: This pilot EQA survey provides a preliminary understanding of the capability of SMA genetic testing for newborns across laboratories in China. A few laboratories had technical or operational problems in testing. It is, therefore, of importance to strengthen laboratory management and to improve testing capacity for the establishment of a national EQA scheme for newborn SMA genetic testing.


Assuntos
Testes Genéticos , Atrofia Muscular Espinal , Triagem Neonatal , Humanos , Recém-Nascido , Atrofia Muscular Espinal/diagnóstico , Atrofia Muscular Espinal/genética , Projetos Piloto , Testes Genéticos/normas , Testes Genéticos/métodos , Triagem Neonatal/normas , Triagem Neonatal/métodos , China , Teste em Amostras de Sangue Seco/normas , Teste em Amostras de Sangue Seco/métodos , Garantia da Qualidade dos Cuidados de Saúde , Laboratórios Clínicos/normas , Proteína 1 de Sobrevivência do Neurônio Motor/genética
2.
J Appl Lab Med ; 9(3): 512-525, 2024 May 02.
Artigo em Inglês | MEDLINE | ID: mdl-38384160

RESUMO

BACKGROUND: In addition to newborn screening, dried blood spots (DBSs) are used for a wide variety of analytes for clinical, epidemiological, and research purposes. Guidelines on DBS collection, storage, and transport are available, but it is suggested that each laboratory should establish its own acceptance criteria. METHODS: An optical scanning device was developed to assess the quality of DBSs received in the newborn screening laboratory from 11 maternity wards between 2013 and 2018. The algorithm was adjusted to agree with the visual examination consensus of experienced laboratory personnel. Once validated, the algorithm was used to categorize DBS specimens as either proper or improper. Improper DBS specimens were further divided based on 4 types of specimen defects. RESULTS: In total, 27 301 DBSs were analyzed. Compared with an annual DBS rejection rate of about 1%, automated scanning rejected 26.96% of the specimens as having at least one defect. The most common specimen defect was multi-spotting (ragged DBS, 19.13%). Among maternity wards, improper specimen rates varied greatly between 5.70% and 49.92%. CONCLUSIONS: Improper specimen rates, as well as the dominant type of defect(s), are mainly institution-dependent, with various maternity wards consistently showing specific patterns of both parameters over time. Although validated in agreement with experienced laboratory personnel consensus, automated analysis rejects significantly more specimens. While continuous staff training, specimen quality monitoring, and problem-reporting to maternities is recommended, a thorough quality assessment strategy should also be implemented by every newborn screening laboratory. An important role in this regard may be played by automation in the form of optical scanning devices.


Assuntos
Algoritmos , Teste em Amostras de Sangue Seco , Triagem Neonatal , Humanos , Triagem Neonatal/métodos , Triagem Neonatal/normas , Recém-Nascido , Teste em Amostras de Sangue Seco/métodos , Teste em Amostras de Sangue Seco/normas , Garantia da Qualidade dos Cuidados de Saúde , Controle de Qualidade , Coleta de Amostras Sanguíneas/métodos , Coleta de Amostras Sanguíneas/normas
3.
J Clin Endocrinol Metab ; 107(2): e475-e486, 2022 01 18.
Artigo em Inglês | MEDLINE | ID: mdl-34601607

RESUMO

CONTEXT: Low bone mineral density has been reported in individuals with congenital adrenal hyperplasia (CAH), but the prevalence of fractures is unclear. OBJECTIVE: To study the prevalence of fractures in CAH. DESIGN, SETTING, AND PARTICIPANTS: Patients with CAH (n = 714, all 21-hydroxylase deficiency) were compared with controls matched for sex and year and place of birth (n = 71 400). Data were derived by linking National Population-Based Registers. MAIN OUTCOME MEASURES: Number and type of fractures. RESULTS: Mean age was 29.8 ±â€…18.4 years. Individuals with CAH had more fractures compared to controls [23.5% vs 16.1%, odds ratio (OR) 1.61, 95% CI 1.35-1.91], and this was found in both sexes (females: 19.6% vs 13.3%, OR 1.57, 95% CI 1.23-2.02; males: 28.7% vs 19.6%, OR 1.65, 95% CI 1.29-2.12). Fractures were significantly increased in patients born before the introduction of neonatal screening but not in those born afterwards. Any major fracture associated with osteoporosis (spine, forearm, hip, or shoulder) was increased in all individuals with CAH (9.8% vs 7.5%, OR 1.34, 95% CI 1.05-1.72). The highest prevalence of fractures was seen in SV phenotype and I172N genotype while nonclassic phenotype and I2 splice genotype did not show increased prevalence. A transport accident as a car occupant and fall on the same level were more common in patients with CAH, both sexes, than in controls. CONCLUSIONS: Patients with CAH had an increased prevalence of both any fracture and fractures associated with osteoporosis (both sexes) but not for patients neonatally screened. We conclude that fracture risk assessment and glucocorticoid optimization should be performed regularly.


Assuntos
Hiperplasia Suprarrenal Congênita/complicações , Densidade Óssea/genética , Fraturas Ósseas/epidemiologia , Esteroide 21-Hidroxilase/genética , Adolescente , Hiperplasia Suprarrenal Congênita/diagnóstico , Hiperplasia Suprarrenal Congênita/genética , Hiperplasia Suprarrenal Congênita/metabolismo , Adulto , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Fraturas Ósseas/genética , Fraturas Ósseas/metabolismo , Fraturas Ósseas/prevenção & controle , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Triagem Neonatal/organização & administração , Triagem Neonatal/normas , Prevalência , Sistema de Registros/estatística & dados numéricos , Esteroide 21-Hidroxilase/metabolismo , Suécia/epidemiologia , Adulto Jovem
5.
Isr Med Assoc J ; 23(4): 229-232, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33899355

RESUMO

BACKGROUND: Many countries have adopted a mandatory routine pulse oximetry screening of newborn infants to identify babies with otherwise asymptomatic critical congenital heart disease (CCHD). OBJECTIVES: To describe the current status of pulse oximetry CCHD screening in Israel, with a special emphasis on the experience of the Shaare Zedek Medical Center. METHODS: We review the difficulties of the Israeli Medical system with adopting the SaO2 screening, and the preliminary results of the screening at the Shaare Zedek Medical Center, both in terms of protocol compliance and CCHD detection. RESULTS: Large scale protocol cannot be implemented in one day, and regular quality assessment programs must take place in order to improve protocol compliance and identify the reasons for protocol failures. CONCLUSIONS: Quality control reviews should be conducted soon after implementation of the screening to allow for prompt diagnosis and quick resolution.


Assuntos
Diagnóstico Precoce , Cardiopatias Congênitas , Triagem Neonatal , Oximetria/métodos , Intervenção Médica Precoce/normas , Necessidades e Demandas de Serviços de Saúde , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/epidemiologia , Humanos , Recém-Nascido , Israel , Triagem Neonatal/métodos , Triagem Neonatal/organização & administração , Triagem Neonatal/normas , Triagem Neonatal/tendências , Qualidade da Assistência à Saúde/organização & administração
6.
Ital J Pediatr ; 47(1): 53, 2021 Mar 07.
Artigo em Inglês | MEDLINE | ID: mdl-33678165

RESUMO

BACKGROUND AND OBJECTIVES: The Neonatal Assessment Manual scorE (NAME) was developed to assist in the clinical management of infants in the neonatal ward by assessing their body's compliance and homogeneity. The present study begins its validation process. METHODS: An expert panel of neonatal intensive care unit (NICU) professionals investigated the NAME face and content validity. Content validity was assessed through the content validity index (CVI). Construct validity was assessed using data collected from 50 newborns hospitalized in the NICU of "Vittore Buzzi" Children Hospital of Milan, Italy. Kendall's τ and ordinal logistic regressions were used to evaluate the correlation between the NAME scores and infants' gestational age, birth weight, post-menstrual age, weight at the time of assessment, and a complexity index related to organic complications. RESULTS: The CVIs for compliance, homogeneity, and the whole scale were respectively 1, 0.9, and 0.95. Construct validity analysis showed significant positive correlations between the NAME and infants' weight and age, and a negative correlation between the NAME and the complexity index (τ = - 0.31 [95% IC: - 0.47, - 0.12], p = 0.016 and OR = 0.56 [95% IC: 0.32, 0.94], p = 0.034 for categorical NAME; τ = - 0.32 [95% IC: - 0.48, - 0.14], p = 0.005 for numerical NAME). CONCLUSIONS: The NAME was well accepted by NICU professionals in this study and it demonstrates good construct validity in discriminating the infant's general condition. Future studies are needed to test the NAME reliability and predictive capacity.


Assuntos
Antropometria/métodos , Triagem Neonatal/normas , Feminino , Humanos , Recém-Nascido , Itália , Masculino
7.
Rev Esp Salud Publica ; 952021 Jan 26.
Artigo em Espanhol | MEDLINE | ID: mdl-33496275

RESUMO

There is broad consensus on the health benefits that neonatal screening has provided in Spain, since Professor Mayor Zaragoza began his research project for the early detection of phenylketonuria and other aminoacidopathies in 1968, to date. In these decades there has been a great evolution and development of Neonatal Screening Programs (NSP) in Spain. This paper presents the effect on the development of the NSPs of the decentralization of Public Health responsibilities in the Autonomous Communities, creating differences among them by atomizing the decisions on the expansion of the diseases to be screened. The availability of effective detection and treatment methods was the justification, often unique, for the inclusion of new diseases in an NSP. On rare occasions, neonatal screening was assumed as a public health program that should offer guarantees of effectiveness, from information for informed consent to the correct treatment and follow-up of detected cases. This situation of enormous inequality in access to neonatal screening has changed with the introduction of appropriate legislation to guaranty the correct development of NSP within the National Health System. Forums coordinated by the Ministry of Health with the participation of those responsible for public health from the Autonomous Communities and scientific societies have been fundamental. An example of the convergence of research and science for the benefit of a basic Public Health program.


Existe un amplio consenso sobre los beneficios en salud que ha aportado el cribado neonatal en España, desde que el Profesor Mayor Zaragoza iniciara en 1968 su proyecto de investigación para la detección precoz de la fenilcetonuria y otras aminoacidopatías hasta la fecha. En estas décadas se ha producido una gran evolución y desarrollo de los Programas de Cribado Neonatal (PCN) en España. En este trabajo se presenta el efecto de la descentralización de las responsabilidades de Salud Pública en las comunidades autónomas (CCAA) sobre el desarrollo de los PCN, creando diferencias entre ellas al atomizarse las decisiones sobre la ampliación de las enfermedades a cribar. La disponibilidad de métodos de detección y tratamiento eficaces era la justificación, muchas veces exclusiva, para la inclusión de nuevas enfermedades en un PCN. En raras ocasiones se asumía el cribado neonatal como un programa de Salud Pública que debía ofrecer garantías de efectividad, desde la información para el consentimiento informado hasta el correcto tratamiento y seguimiento de los casos detectados. Esta situación de enorme desigualdad en el acceso al cribado neonatal ha cambiado con la introducción de legislación apropiada que garantiza el correcto desarrollo de los PCN dentro del Sistema Nacional de Salud. Los foros coordinados por el Ministerio de Sanidad, con la participación de los responsables de Salud Pública de las CCAA y las sociedades científicas, han sido fundamentales. Un ejemplo de convergencia de la investigación y la ciencia en beneficio de un programa básico de Salud Pública.


Assuntos
Triagem Neonatal , Saúde Pública , Humanos , Recém-Nascido , Triagem Neonatal/normas , Avaliação de Programas e Projetos de Saúde , Qualidade da Assistência à Saúde , Pesquisa , Ciência , Espanha
8.
Nurs Womens Health ; 24(5): 344-350, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32890461

RESUMO

OBJECTIVE: To describe, in a convenience sample, different hospitals' nursing care policies related to normal newborn assessment, to summarize common components of those policies related to sudden unexpected postnatal collapse (SUPC) of the newborn, and to correlate characteristics of the hospitals with the presence or absence of a normal newborn assessment policy. DESIGN: Descriptive evaluative design. SETTING: Hospital representatives were contacted to complete a questionnaire and provide a copy of their policies regarding normal newborn assessment. PARTICIPANTS: Representatives from 39 hospitals that provide maternal/newborn services within the United States completed the questionnaire and/or provided the investigator with a written nursing care policy for normal newborn assessment. INTERVENTION/MEASUREMENTS: Components of the hospitals' normal newborn assessment policies were evaluated according to the framework of recommended components outlined by the American Academy of Pediatrics in Feldman-Winter et al. (2016). RESULTS: The four components most often included in the policies submitted by 26 hospitals were maternal/newborn dyad assessments (n = 25, 96%), sequence of events postpartum (n = 15, 58%), monitoring (n = 9, 35%), and skin-to-skin contact procedures (n = 8, 30%). Differences were noted based on the size of the hospital as defined by the number of births and number of beds and also by the type of unit. CONCLUSION: Few policies in this study aligned with the recommended suggestions from the American Academy of Pediatrics outlined in Feldman-Winter et al. (2016). It is also important to note that these recommended suggestions relate to safe skin-to-skin contact and rooming-in practices, which may in turn affect the incidence of SUPC. There is much work to be done in terms of disseminating evidence and developing and implementing newborn assessment policies related to SUPC.


Assuntos
Triagem Neonatal/normas , Morte Súbita do Lactente/prevenção & controle , Hospitais/estatística & dados numéricos , Humanos , Recém-Nascido , Método Canguru , Parto , Políticas , Prevalência , Inquéritos e Questionários , Estados Unidos
10.
Artigo em Inglês | MEDLINE | ID: mdl-31389322

RESUMO

BACKGROUND: The knowledge of the pathophysiology of Lysosomal Storage Disorders has gradually increased, but information on their incidence is still scarce. The objective of this study was to evaluate the status and use of resources of these disorders in Spain from 1997 to 2015. METHODS: Records from 4,999 patients diagnosed with a Lysosomal Storage Disorder were extracted from a Spanish database containing data from public and private hospitals from 1997 to 2015. RESULTS: The database registered 2,441 patients with an LSD in Spain during the study period. Leukodystrophy, Krabbe disease, Pelizaeus-Merzbacher disease and sulfatide lipidosis represented, as a group, the most common combination of diseases in Spain, affecting 26% of total patients. The average age of diagnosis of these disorders was 16.7 years. A sex bias was observed in most of the groups, with a proportion of male/female of 60 to 40%. The direct medical cost of Lysosomal Storage Diseases was €5,686 per patient with an average cost per hospital admission of €4,923. Global costs displayed a growing tendency. CONCLUSION: Contrary to worldwide disease incidence estimations, the group with Krabbe disease registered the highest number of patients in the study period, which makes evident the need for accurate regional disease incidence and patient demographic studies. Altogether, data suggest the need to improve LSDs diagnostic protocols, and support the inclusion of these disorders in standard newborn screening programs.


Assuntos
Gerenciamento de Dados/métodos , Bases de Dados Factuais , Recursos em Saúde , Doenças por Armazenamento dos Lisossomos/diagnóstico , Doenças por Armazenamento dos Lisossomos/epidemiologia , Adolescente , Adulto , Criança , Pré-Escolar , Gerenciamento de Dados/normas , Bases de Dados Factuais/normas , Feminino , Recursos em Saúde/normas , Humanos , Lactente , Recém-Nascido , Masculino , Triagem Neonatal/métodos , Triagem Neonatal/normas , Espanha/epidemiologia , Adulto Jovem
11.
Clin Lab ; 65(6)2019 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-31232035

RESUMO

BACKGROUND: The aim of this study was to analyze the 2018 external quality assessment (EQA) results of newborn screening by MS/MS of acylcarnitine by Chinese National Center for Clinical Laboratories and to determine the performance of clinical laboratories. METHODS: Five dried blood spots were distributed to participants every round. Satisfactory performance was defined as scores more than 80 of acceptable results within the evaluation criterion. The robust coefficient of variability (RCV) of each sample was calculated by measurement systems. The chi-square (2) test was used to compare the correct recognition rates. RESULTS: EQA results were collected from 150 laboratories for 15 different acylcarnitines between C0 - C18. The overall acceptable rates of the qualitative results were between 81.21% and 96.67%, and the proportion of acceptable quantitative results were between 78.38% and 93.24%. There were significant differences in the rates of acceptable quantitative results among different items and between the four methods. CONCLUSIONS: Most of the participant laboratories had satisfactory performance for the quantitative results in this EQA scheme. But for qualitative assessment, a laboratory should re-evaluate and validate their reference intervals on a regular basis to improve the consistency of clinical assessment.


Assuntos
Carnitina/análogos & derivados , Triagem Neonatal/métodos , Garantia da Qualidade dos Cuidados de Saúde/métodos , Espectrometria de Massas em Tandem/métodos , Carnitina/análise , Carnitina/química , China , Humanos , Recém-Nascido , Laboratórios/normas , Laboratórios/estatística & dados numéricos , Triagem Neonatal/normas , Garantia da Qualidade dos Cuidados de Saúde/normas , Controle de Qualidade , Valores de Referência , Reprodutibilidade dos Testes
12.
Pediatr Res ; 86(4): 529-536, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31158843

RESUMO

BACKGROUND: Previous studies proposed that there were racial or ethnic disparities in fetal growth, challenging the use of international standards in specific populations. This study was to evaluate the validity of applying the INTERGROWTH-21st standard to a Chinese population for identifying abnormal head circumference (HC), in comparison with a newly generated local reference. METHODS: There were 24,257 singletons delivered by low-risk mothers in four perinatal health-care centers in Southern China. New HC reference was constructed and comparison in distribution of HC categories was performed between the INTERGROWTH-21st standard and new reference after applying these two tools in study population. Logistic regression was used to examine the association between abnormal HC and adverse neonatal outcomes. RESULTS: There were 4.40% of the newborns identified with microcephaly (HC > 2 standard deviation below the mean) using the INTERGROWTH-21st standard, comparing to the proportion of 2.83% using new reference. The newborns identified with microcephaly only by the INTERGROWTH-21st standard were not at a higher risk of adverse neonatal outcome, compared with those identified as non-microcephaly by both tools (OR 0.73, 95% CI 0.47-1.13). CONCLUSION: The new HC reference may be more appropriate for newborn assessment in Chinese populations than the INTERGROWTH-21st standard.


Assuntos
Antropometria , Cabeça/anatomia & histologia , Triagem Neonatal/normas , Neonatologia/normas , Padrões de Referência , Peso ao Nascer , China/epidemiologia , Feminino , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Masculino , Microcefalia/diagnóstico , Valores de Referência , Análise de Regressão
13.
Mil Med ; 184(11-12): 826-831, 2019 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-31090912

RESUMO

INTRODUCTION: The purpose of this study was to assess the evolution of newborn pulse oximetry screening (+POx) among Army, Air Force, and Naval military hospitals (MH), including prevalence, protocol use, quality assurance processes, access to echocardiography, and use of telemedicine. This is a follow-up from a prior study published in 2011. MATERIALS AND METHODS: An Internet-based questionnaire was forwarded to the chief pediatrician at MH worldwide which support newborn deliveries. Descriptive data were reported using percentages. Grouped responses, as applicable, were further compared using the chi-square test. A p-value < 0.05 was considered statistically significant. RESULTS: Seventy-eight percent (36/46) of MH supporting deliveries worldwide responded to the survey (17 Army hospitals, 11 Navy Hospitals, 8 Air Force hospitals). All responding hospitals utilize +POx, of which 94% endorsed protocol compliance with the American Academy of Pediatrics guidelines. Nine (25%) hospitals were located outside of the United States. Delivery volumes (infants per month) range between 1-49 (36%), 50-99 (28%), 100-199 (19%), and 200-300 (17%). Eleven hospitals reported regular review of +POx data, with most reviewing them monthly. Four MH share findings with state institutions. Ten hospitals either have a staff pediatric cardiologist or use tele-echocardiography for on-site evaluations. Ten hospitals are located greater than 60 miles from the nearest center with echocardiography capabilities. Of the five hospitals using tele-echocardiography, four confirmed critical congenital heart disease (CCHD) using this practice, and all five reported averting transfer of an infant using this technology. Of the 22 hospitals lacking the ability to obtain on-site echocardiography, 12 (55%) are interested in implementing a tele-echocardiography protocol. CONCLUSIONS: All responding MH use +POx, representing significant increase from the 30% of MH reporting use of +POx seven years ago. The majority of MH follow AAP +POx guidelines, and though most have providers review results prior to discharge, only one-third report periodic chart review for quality assurance. Most MH transfer infants with positive +POx results for evaluation due to a lack of on-site echocardiography. Tele-echocardiography was reported as a potential solution to diagnose or rule out CCHD. Over half of remaining hospitals without cardiologists are interested in using this technology to evaluate stable infants with positive CCHD screening.


Assuntos
Assistência ao Convalescente/normas , Cardiopatias Congênitas/diagnóstico , Triagem Neonatal/normas , Oximetria/normas , Assistência ao Convalescente/métodos , Assistência ao Convalescente/estatística & dados numéricos , Feminino , Seguimentos , Cardiopatias Congênitas/epidemiologia , Hospitais Militares/estatística & dados numéricos , Humanos , Lactente , Recém-Nascido , Internet , Masculino , Medicina Militar/métodos , Medicina Militar/estatística & dados numéricos , Triagem Neonatal/métodos , Oximetria/métodos , Oximetria/estatística & dados numéricos , Inquéritos e Questionários , Estados Unidos/epidemiologia
14.
BMC Pediatr ; 19(1): 174, 2019 05 29.
Artigo em Inglês | MEDLINE | ID: mdl-31142302

RESUMO

BACKGROUND: Prolonged neonatal jaundice (PNNJ) is often caused by breast milk jaundice, but it could also point to other serious conditions (biliary atresia, congenital hypothyroidism). When babies with PNNJ receive a routine set of laboratory investigations to detect serious but uncommon conditions, there is always a tendency to over-investigate a large number of well, breastfed babies. A local unpublished survey in Perak state of Malaysia revealed that the diagnostic criteria and initial management of PNNJ were not standardized. This study aims to evaluate and improve the current management of PNNJ in the administrative region of Perak. METHODS: A 3-phase quasi-experimental community study was conducted from April 2012 to June 2013. Phase l was a cross-sectional study to review the current practice of PNNJ management. Phase ll was an interventional phase involving the implementation of a new protocol. Phase lll was a 6 months post-interventional audit. A registry of PNNJ was implemented to record the incidence rate. A self-reporting surveillance system was put in place to receive any reports of biliary atresia, urinary tract infection, or congenital hypothyroidism cases. RESULTS: In Phase I, 12 hospitals responded, and 199 case notes were reviewed. In Phase II, a new protocol was developed and implemented in all government health facilities in Perak. In Phase III, the 6-month post-intervention audit showed that there were significant improvements when comparing mean scores of pre- and post-intervention: history taking scores (p < 0.001), family history details (p < 0.05), physical examination documentation (p < 0.001), and total investigations done per patient (from 9.01 to 5.81, p < 0.001). The total number of patient visits reduced from 2.46 to 2.2 per patient. The incidence of PNNJ was found to be high (incidence rate of 158 per 1000 live births). CONCLUSIONS: The new protocol standardized and improved the quality of care with better clinical assessment and a reduction in unnecessary laboratory investigations. TRIAL REGISTRATION: Research registration number: NMRR-12-105-11288 .


Assuntos
Auditoria Clínica , Protocolos Clínicos/normas , Gerenciamento Clínico , Icterícia Neonatal , Melhoria de Qualidade , Algoritmos , Atresia Biliar/complicações , Atresia Biliar/diagnóstico , Estudos Transversais , Saúde da Família , Humanos , Recém-Nascido , Icterícia Neonatal/diagnóstico , Icterícia Neonatal/etiologia , Icterícia Neonatal/terapia , Malásia , Anamnese , Prontuários Médicos , Triagem Neonatal/normas , Exame Físico , Guias de Prática Clínica como Assunto , Encaminhamento e Consulta/normas , Sistema de Registros/estatística & dados numéricos
15.
Clin Pediatr (Phila) ; 58(8): 857-863, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-30938192

RESUMO

The Neonatal Eating Assessment Tool (NeoEAT)-Bottle-feeding is a parent-report assessment of bottle-feeding behavior in infants less than 7 months old with evidence of validity and reliability. The purpose of this study was to establish norm-reference values to guide score interpretation and clinical decision making. Parents of 478 healthy, typically developing infants completed the NeoEAT-Bottle-feeding. Descriptive statistics were calculated for the following age groups: 0 to 2, 2 to 4, 4 to 6, and 6 to 7 months. NeoEAT-Bottle-feeding total scores decreased with increasing infant age. The Infant Regulation subscale contributed the most to the total score and remained high across the first 6 months of life, then decreased dramatically in the 6- to 7-month age group. The 90th and 95th percentile values for the total score and subscale scores can be used to identify infants with problematic feeding, guide referral, tailor treatment, and assess response to treatment.


Assuntos
Alimentação com Mamadeira/estatística & dados numéricos , Desenvolvimento Infantil , Inquéritos e Questionários/normas , Comportamento Alimentar , Feminino , Humanos , Recém-Nascido , Masculino , Triagem Neonatal/normas , Psicometria , Reprodutibilidade dos Testes
16.
Clin Lab ; 65(3)2019 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-30868847

RESUMO

BACKGROUND: To analyze the 2017 external quality assessment (EQA) results of newborn screening by MS/MS of amino acids by Chinese National Center for Clinical Laboratories, this study aimed to reflect the performance of clinical laboratories. METHODS: Five dried blood spots were distributed to participants every round. Satisfactory performance was defined as scores more than 80 of acceptable results within the evaluation criterion. The robust coefficient of variability (RCV) of each sample was calculated by measurement systems. The chi-square () test was used to compare the correct recognition rates. RESULTS: EQA results were collected from 150 laboratories for Ala, Val, Arg, Leu, Met, Phe, Tyr, Cit. The overall acceptable rates of the qualitative results were 87.42%, 92.72%, 73.33%, 94.04%, 92.72%, 94.70%, 92.72%, 94.04%, respectively, and the proportion of acceptable quantitative results were 76.51 %, 91.95%, 78.38 %, 92.62%, 93.29%, 93.29%, 94.63%, 91.28%, respectively. There were significant differences in the rates of acceptable quantitative results among different items and between four methods. CONCLUSIONS: Most of the participant laboratories had satisfactory performance for the quantitative results in this EQA scheme. But for qualitative assessment, the laboratory should re-evaluate and validate their reference intervals on a regular basis to improve the consistency of clinical assessment.


Assuntos
Aminoácidos/sangue , Triagem Neonatal/normas , China , Humanos , Recém-Nascido , Garantia da Qualidade dos Cuidados de Saúde , Espectrometria de Massas em Tandem
17.
Arch Dis Child Fetal Neonatal Ed ; 104(4): F440-F442, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30262463

RESUMO

BACKGROUND: NeoTapAdvancedSupport (NeoTapAS) is a mobile application, based on a screen tapping method that calculates the heart rate (HR). We aimed to evaluate the accuracy of NeoTapAS in reliably determining HR from auscultation in a high-fidelity simulated newborn resuscitation scenario. METHODS: Paediatric residents assessed HR by auscultation plus NeoTapAS in an asphyxiated term infant scenario and orally communicated the estimated HR. An external observer simultaneously documented the actual HR set in the manikin and the communicated HR. RESULTS: One hundred and sixty HR measurements were recorded. The agreement between communicated and set HR was good (Cohen's kappa 0.80, 95% CI 0.72 to 0.87; Bangdiwala's weighted agreement strength statistic 0.93). Bland-Altman plot showed a mean difference between communicated and set HR values of 1 beats per minute (bpm) (95% agreement limits -9 to 11 bpm). CONCLUSION: NeoTapAS showed a good accuracy in estimating HR and it could be an important resource in settings with limited availability of ECG monitor.


Assuntos
Auscultação Cardíaca/normas , Frequência Cardíaca , Triagem Neonatal/normas , Palpação/normas , Eletrocardiografia , Humanos , Recém-Nascido , Manequins , Reprodutibilidade dos Testes
18.
Afr Health Sci ; 19(3): 2718-2727, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32127844

RESUMO

BACKGROUND: A clinical feeding assessment instrument to assist with early identification of oropharyngeal dysphagia (OPD) in neonates was developed. OBJECTIVE: To investigate the validity and reliability of the Neonatal Feeding Assessment Scale (NFAS) in comparison to the modified barium swallow study (MBSS) as gold standard. METHOD: A within-subject design was implemented. A group of 48 late premature neonates (mean gestational age 35.5 weeks) were sampled in the neonatal intensive care unit. RESULTS: The NFAS consists of six subsections, including physiological stability, infant state, stress cues, screening of muscle tone and control, oral peripheral examination and feeding/swallowing assessment. 93% of participants (14/15) received confirmatory diagnosis of OPD on MBSS. The NFAS presented with high sensitivity (78.6%) and specificity (88.2%) scores. The positive predictive value was 78.6%. Subsequently the accuracy of the NFAS to identify the presence of OPD accurately was 85.4% when compared to MBSS. Inter-rater reliability was determined on 35% of the sample. The inter-rater agreement on overall instrument outcome was substantial beyond chance. CONCLUSION: The NFAS may be of use to clinicians to support the early identification of OPD in this population, especially in resource constrained settings working without access to MBSS and to reach under served neonates.


Assuntos
Transtornos de Deglutição/diagnóstico , Recém-Nascido Prematuro , Triagem Neonatal/métodos , África , Peso ao Nascer , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Unidades de Terapia Intensiva Neonatal , Masculino , Triagem Neonatal/normas , Variações Dependentes do Observador , Reprodutibilidade dos Testes , Centros de Atenção Terciária
19.
J Clin Endocrinol Metab ; 103(11): 4043-4088, 2018 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-30272171

RESUMO

Objective: To update the congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency clinical practice guideline published by the Endocrine Society in 2010. Conclusions: The writing committee presents updated best practice guidelines for the clinical management of congenital adrenal hyperplasia based on published evidence and expert opinion with added considerations for patient safety, quality of life, cost, and utilization.


Assuntos
Hiperplasia Suprarrenal Congênita/terapia , Endocrinologia/normas , Sociedades Médicas/normas , Hiperplasia Suprarrenal Congênita/diagnóstico , Hiperplasia Suprarrenal Congênita/economia , Hiperplasia Suprarrenal Congênita/genética , Análise Custo-Benefício , Feminino , Terapias Fetais/economia , Terapias Fetais/métodos , Terapias Fetais/normas , Aconselhamento Genético/economia , Aconselhamento Genético/métodos , Aconselhamento Genético/normas , Glucocorticoides/uso terapêutico , Humanos , Recém-Nascido , Assistência de Longa Duração/economia , Assistência de Longa Duração/métodos , Assistência de Longa Duração/normas , Triagem Neonatal/economia , Triagem Neonatal/normas , Segurança do Paciente/normas , Qualidade de Vida , Terapias em Estudo/economia , Terapias em Estudo/métodos , Terapias em Estudo/normas
20.
Curr Opin Ophthalmol ; 29(3): 206-209, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29561286

RESUMO

PURPOSE OF REVIEW: This review highlights the common areas of medicolegal risk during retinopathy of prematurity (ROP) screening. RECENT FINDINGS: Most malpractice risk in ROP comes from systemic errors that ultimately result in failure to screen the patient in a timely fashion, resulting in failures to intervene and/or refer in a timely fashion. Currently, the emphasis is engaging the family members, the hospital staff, and clinic staff to pro-actively manage ROP patients and ensure that they are screened in a timely fashion. Coordinating care between multiple caregivers can minimize risk. Risk increases when practitioners do not stay up to date on current screening and treatment guidelines or on the most recent study recommendations. Finally, it is important to maintain a high level of suspicion when dealing with infants is known to be predisposed to poor outcomes. SUMMARY: Premature infants with short gestation and very low birthweights need to have structured screening coordinated between the hospital, the clinic, the physicians, and the family in order to minimize medicolegal risk and maximize beneficial outcomes.


Assuntos
Atenção à Saúde/organização & administração , Responsabilidade Legal , Erros Médicos/legislação & jurisprudência , Triagem Neonatal/normas , Retinopatia da Prematuridade/diagnóstico , Continuidade da Assistência ao Paciente/organização & administração , Continuidade da Assistência ao Paciente/normas , Idade Gestacional , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Erros Médicos/prevenção & controle , Triagem Neonatal/métodos , Triagem Neonatal/organização & administração , Pais/educação , Relações Profissional-Paciente
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