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1.
Int Health ; 10(2): 100-107, 2018 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-29528401

RESUMO

Background: Most congenital hypothyroidism (CH) is not avertable; however, the adverse effects of CH are preventable with early detection and treatment. It is a common congenital endocrine disorder that affects 1 in 2000-4000 newborns globally. The true incidence in Pakistan is unknown. Data from hospital studies quote an incidence of 1 in 1600-2000. The aim of this study was to uncover existing knowledge of CH and screening for the condition and to assess the impact of health education on mothers' knowledge and attitudes towards having their newborns screened. Methods: The study was conducted from January 2012 to August 2013 at a local hospital in Karachi, Pakistan. This was a prospective, interventional cohort study implemented through a pre- and post-cross-sectional knowledge, attitudes and practices (KAP) survey. Interviews were conducted using structured questionnaires on CH. Results: At baseline (pre-intervention survey), 400 participants consented and 355 (88.9%) completed the study. There was a significant increase in awareness among participating women following the intervention (20% to approximately 98%). Similarly, 78.9% agreed to opt for a screening test for their newborns following delivery as compared with 57.7% in the pre-intervention KAP survey (relative risk 1.38, p-value <0.0001). Conclusion: Unfortunately, the majority of mothers were unaware of CH and its implications, leading to less screening and fewer diagnoses. This study underlines the importance of education in screening programmes to create awareness and maximize uptake.


Assuntos
Hipotireoidismo Congênito/diagnóstico , Educação em Saúde , Conhecimentos, Atitudes e Prática em Saúde , Mães/psicologia , Triagem Neonatal/estatística & dados numéricos , Adulto , Estudos Transversais , Feminino , Hospitais , Humanos , Recém-Nascido , Mães/estatística & dados numéricos , Paquistão , Gravidez , Estudos Prospectivos
2.
J Perinat Med ; 46(1): 81-86, 2018 Jan 26.
Artigo em Inglês | MEDLINE | ID: mdl-28803228

RESUMO

BACKGROUND: Due to the extremely low incidence of TORCH (toxoplasmosis, rubella, CMV, herpes simplex virus) infections, diagnostic testing of all small for gestational age (SGA) infants aimed at TORCH etiologies may incur unnecessary tests and cost. OBJECTIVE: To determine the frequency of urine CMV PCR and total IgM testing among infants with birth weight <10% and the rate of test positivity. To evaluate the frequency of alternative etiologies of SGA in tested infants. METHODS: Retrospective chart review of SGA infants admitted to the neonatal intensive care unit (NICU) at NYU Langone Medical Center between 2007 and 2012. Subjects were classified as being SGA with or without intrauterine growth restriction (IUGR). The IUGR subjects were then further categorized as having either symmetric or asymmetric IUGR utilizing the Fenton growth chart at birth. Initial testing for TORCH infections, which included serum total IgM, CMV PCR and head ultrasound, were reviewed and analyzed. RESULTS: Three hundred and eighty-six (13%) infants from a total of 2953 NICU admissions had a birth weight ≤10th percentile. Of these, 44% were IUGR; 34% being symmetric IUGR and 10% asymmetric. A total of 32% of SGA infants had urine CMV PCR and total IgM tested with no positive results. As expected, significantly higher percentage of symmetric IUGR infants were tested compared to asymmetric IUGR and non-IUGR SGA infants, (64% vs. 47% vs. 19%) P≤0.01. However, 63% of infants with a known cause for IUGR had same testing done aimed at TORCH infections. We calculated additional charges of $64,065 that were incurred by such testing. CONCLUSIONS: The majority of infants in our study who received testing for urine CMV PCR and total IgM aimed at TORCH infections had one or more other known non-infectious etiologies for IUGR. Because the overall yield of such testing is extremely low, we suggest tests for possible TORCH infections may be limited to symmetric IUGR infants without other known etiologies. Improved guidelines testing for TORCH infections can result in reducing hospital charges and unnecessary studies.


Assuntos
Citomegalovirus/isolamento & purificação , Retardo do Crescimento Fetal/etiologia , Imunoglobulina M/sangue , Recém-Nascido Pequeno para a Idade Gestacional/sangue , Triagem Neonatal/estatística & dados numéricos , Adulto , Feminino , Humanos , Recém-Nascido , Recém-Nascido Pequeno para a Idade Gestacional/urina , Reação em Cadeia da Polimerase/estatística & dados numéricos , Gravidez , Estudos Retrospectivos , Procedimentos Desnecessários
3.
JAMA ; 318(21): 2111-2118, 2017 Dec 05.
Artigo em Inglês | MEDLINE | ID: mdl-29209720

RESUMO

IMPORTANCE: In 2011, critical congenital heart disease was added to the US Recommended Uniform Screening Panel for newborns, but whether state implementation of screening policies has been associated with infant death rates is unknown. OBJECTIVE: To assess whether there was an association between implementation of state newborn screening policies for critical congenital heart disease and infant death rates. DESIGN, SETTING, AND PARTICIPANTS: Observational study with group-level analyses. A difference-in-differences analysis was conducted using the National Center for Health Statistics' period linked birth/infant death data set files for 2007-2013 for 26 546 503 US births through June 30, 2013, aggregated by month and state of birth. EXPOSURES: State policies were classified as mandatory or nonmandatory (including voluntary policies and mandates that were not yet implemented). As of June 1, 2013, 8 states had implemented mandatory screening policies, 5 states had voluntary screening policies, and 9 states had adopted but not yet implemented mandates. MAIN OUTCOMES AND MEASURES: Numbers of early infant deaths (between 24 hours and 6 months of age) coded for critical congenital heart disease or other/unspecified congenital cardiac causes for each state-month birth cohort. RESULTS: Between 2007 and 2013, there were 2734 deaths due to critical congenital heart disease and 3967 deaths due to other/unspecified causes. Critical congenital heart disease death rates in states with mandatory screening policies were 8.0 (95% CI, 5.4-10.6) per 100 000 births (n = 37) in 2007 and 6.4 (95% CI, 2.9-9.9) per 100 000 births (n = 13) in 2013 (for births by the end of July); for other/unspecified cardiac causes, death rates were 11.7 (95% CI, 8.6-14.8) per 100 000 births in 2007 (n = 54) and 10.3 (95% CI, 5.9-14.8) per 100 000 births (n = 21) in 2013. Early infant deaths from critical congenital heart disease through December 31, 2013, decreased by 33.4% (95% CI, 10.6%-50.3%), with an absolute decline of 3.9 (95% CI, 3.6-4.1) deaths per 100 000 births after states implemented mandatory screening compared with prior periods and states without screening policies. Early infant deaths from other/unspecified cardiac causes declined by 21.4% (95% CI, 6.9%-33.7%), with an absolute decline of 3.5 (95% CI, 3.2-3.8) deaths per 100 000 births. No significant decrease was associated with nonmandatory screening policies. CONCLUSIONS AND RELEVANCE: Statewide implementation of mandatory policies for newborn screening for critical congenital heart disease was associated with a significant decrease in infant cardiac deaths between 2007 and 2013 compared with states without these policies.


Assuntos
Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/mortalidade , Mortalidade Infantil , Programas Obrigatórios , Triagem Neonatal/legislação & jurisprudência , Governo Estadual , Política de Saúde , Humanos , Lactente , Recém-Nascido , Mortalidade/tendências , Triagem Neonatal/estatística & dados numéricos , Estados Unidos/epidemiologia , Estatísticas Vitais
4.
Am Fam Physician ; 95(11): 703-709, 2017 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-28671437

RESUMO

Each year, 4 to 5 million newborns receive state-mandated screening. Although the Advisory Committee on Heritable Disorders in Newborns and Children has identified 34 core conditions that should be incorporated into screening programs, each state manages, funds, and maintains its own program. State programs encompass screening, as well as the diagnosis and coordination of care for newborns with positive findings. Testing for core disorders is fairly standardized, but more extensive screening varies widely by state, and the rigorous evaluation of new screening panels is ongoing. The core panel includes testing for three main categories of disorders: metabolic disorders (e.g., amino acid and urea cycle, fatty acid oxidation, and organic acid disorders); hemoglobinopathies; and a group of assorted conditions, including congenital hearing loss. Family physicians must be familiar with the expanded newborn screening tests to effectively communicate results to parents and formulate interventions. They must also recognize signs of metabolic disorders that may not be detected by screening tests or that may not be a part of standard newborn screening in their state. For infants with positive screening results leading to diagnosis, long-term follow-up involves ongoing parental education, regular medical examinations, management at a metabolic treatment center, and developmental and neuropsychological testing to detect associated disorders in time for early intervention.


Assuntos
Triagem Neonatal/estatística & dados numéricos , Médicos de Família , Padrões de Prática Médica , Serviços de Saúde da Criança , Anormalidades Congênitas/diagnóstico , Doenças Genéticas Inatas/diagnóstico , Humanos , Recém-Nascido , Doenças do Recém-Nascido/diagnóstico , Estados Unidos
5.
BMC Pediatr ; 17(1): 136, 2017 Jun 05.
Artigo em Inglês | MEDLINE | ID: mdl-28583152

RESUMO

BACKGROUND: Developmental dysplasia of the hip (DDH) occurs in 3-5 of 1000 live births and is associated with known risk factors. In most countries, formal practice for early detection of DDH entails the combination of risk factor identification and physical examination of the hip, while the golden standard diagnostic instrument is hip ultrasonography (US). This practice is commonly referred to as selective screening. Infants with positive US findings are treated with a Pavlik harness, a dynamic abduction splint. The objective of our study was to evaluate hip US utilization patterns in Maccabi Healthcare Services (MHS), a large health plan. METHODS: Study population: All MHS members, born between June 2011 and October 2014, who underwent at least one US before the age of 15 months. STUDY VARIABLES: Practice specialty and number of enrolled infants. Positive US result was defined as referral to an abduction splint. Cost was based on Ministry of Health price list. Chi square and correlation coefficients were employed in the statistical analysis. RESULTS: Of the 115,918 infants born during the study period, 67,491 underwent at least one hip US. Of these, 60.6% were female, mean age at performance: 2.2 months. Of those who underwent US, 625 (0.93%) were treated with a Pavlik harness: 0.24% of the male infants and 1.60% of the female infants (p < 0.001). Analysis of physician practice characteristics revealed that referral to US was significantly higher among pediatricians as compared with general practitioners (60% and 35%, respectively). Practice volume had no influence on referral rate. Direct medical costs of the 107 hip US examinations performed that led to detection of one positive case (treated by Pavlik): US$10,000. CONCLUSIONS: Current pattern of hip US utilization for early detection of DDH resembles universal screening more closely than selective screening. This can inform policy decisions as to whether a stricter selective screening or a formal move to universal screening is appropriate in Israel.


Assuntos
Luxação Congênita de Quadril/diagnóstico por imagem , Programas de Rastreamento/estatística & dados numéricos , Triagem Neonatal/estatística & dados numéricos , Padrões de Prática Médica/estatística & dados numéricos , Encaminhamento e Consulta/estatística & dados numéricos , Estudos de Coortes , Diagnóstico Precoce , Feminino , Medicina Geral , Custos de Cuidados de Saúde , Luxação Congênita de Quadril/economia , Luxação Congênita de Quadril/terapia , Humanos , Lactente , Recém-Nascido , Israel , Masculino , Programas de Rastreamento/economia , Triagem Neonatal/economia , Aparelhos Ortopédicos , Pediatria , Padrões de Prática Médica/economia , Encaminhamento e Consulta/economia , Ultrassonografia/economia , Ultrassonografia/estatística & dados numéricos
6.
N C Med J ; 78(2): 96-100, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28420769

RESUMO

Newborn hearing screening has become the standard of care in the United States, with over 98% of infants born screened for hearing loss. Appropriate and timely follow-up is critical when an infant does not pass the screening. While there remains room for improvement, newborn hearing screening is making a difference.


Assuntos
Perda Auditiva/diagnóstico , Triagem Neonatal/estatística & dados numéricos , Perda Auditiva/congênito , Perda Auditiva/reabilitação , Humanos , Recém-Nascido , Triagem Neonatal/economia , Triagem Neonatal/normas , North Carolina , Encaminhamento e Consulta/estatística & dados numéricos , Fonoterapia
7.
J Genet Couns ; 26(6): 1238-1243, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28451876

RESUMO

The Inborn Errors of Metabolism Collaborative (IBEMC) includes clinicians from 29 institutions collecting data to enhance understanding of metabolic conditions diagnosable by newborn screening. Data collected includes hospitalizations, test results, services, and long-term outcomes. Through evaluation of this data, we sought to determine how frequently genetic counseling had been provided, how often genetic testing was performed, and also determine the consanguinity rate in this population. A data query was performed with the following elements abstracted/analyzed: current age, metabolic condition, whether genetic counseling was provided (and by whom), whether genetic testing was performed, and consanguinity. Genetic counseling was provided to families 95.8% of the time and in 68.6% of cases by a genetic counselor. Genetic testing was performed on 68.0% of subjects, with usage highest for fatty-acid-oxidation disorders (85.1%). The rate of consanguinity was 2.38%. Within this large national collaborative there is a high frequency of genetic counseling, though in one-third of cases a genetic counselor has not been involved. Additionally, while metabolic conditions have historically been diagnosed biochemically, there is currently high utilization of molecular testing suggesting DNA testing is being incorporated into diagnostic assessments - especially for fatty-acid-oxidation disorders where the underlying genotype helps predict clinical presentation.


Assuntos
Consanguinidade , Aconselhamento Genético/estatística & dados numéricos , Testes Genéticos/estatística & dados numéricos , Erros Inatos do Metabolismo/diagnóstico , Triagem Neonatal/estatística & dados numéricos , Humanos , Recém-Nascido , Masculino , Erros Inatos do Metabolismo/genética
8.
Laryngorhinootologie ; 96(6): 361-373, 2017 Jun.
Artigo em Alemão | MEDLINE | ID: mdl-28178740

RESUMO

Patients with residual hearing in the low frequencies and ski-slope hearing loss with partial deafness at medium and high frequencies receive a cochlear implant treatment with electric-acoustic stimulation (EAS, "hybrid" stimulation). In the border region between electric and acoustic stimulation a superposition of the 2 types of stimulation is expected. The area of overlap is determined by the insertion depth of the stimulating electrode and the lower starting point of signal transmission provided by the CI speech processor. The study examined the influence of the variation of the electric-acoustic overlap area on speech perception in noise, whereby the width of the "transmission gap" between the 2 different stimulus modalities was varied by 2 different methods. The results derived from 9 experienced users of the MED-EL Duet 2 speech processor show that the electric-acoustic overlapping area and with it the crossover frequency between the acoustic part and the CI should be adjusted individually. Overall, speech reception thresholds (SRT) showed a wide variation of results in between subjects. Further studies shall investigate whether generalized procedures about the setting of the overlap between electric and acoustic stimulation are reasonable, whereby an increased number of subjects and a longer period of acclimatization prior to the conduction of hearing tests deemed necessary.


Assuntos
Estimulação Acústica , Perda Auditiva Neurossensorial/terapia , Testes Auditivos/métodos , Doenças do Prematuro/terapia , Audiometria de Resposta Evocada/métodos , Audiometria de Resposta Evocada/estatística & dados numéricos , Estudos Transversais , Alemanha , Idade Gestacional , Fidelidade a Diretrizes , Perda Auditiva Neurossensorial/congênito , Perda Auditiva Neurossensorial/epidemiologia , Testes Auditivos/estatística & dados numéricos , Hospitais Universitários/estatística & dados numéricos , Humanos , Recém-Nascido , Doenças do Prematuro/epidemiologia , Triagem Neonatal/estatística & dados numéricos , Estudos Retrospectivos , Fatores de Risco , Revisão da Utilização de Recursos de Saúde/estatística & dados numéricos
9.
Gesundheitswesen ; 79(5): 388-393, 2017 May.
Artigo em Alemão | MEDLINE | ID: mdl-26110244

RESUMO

Background: In recent years quality assurance has become an essential part of today's health-care system in the wake of the modern patient-oriented quality management. With the statutory introduction of newborn hearing screening (NHS) in 2009, a quality assurance of these early detection methods has become necessary. The aim of the study was to determine patient satisfaction in relation to the NHS in Saxony-Anhalt. Patients/Methods: During the period from November 2013 to April 2014, 394 parents were retrospectively interviewed about their experiences and expectations in relation to the NHS, using a standardised questionnaire. In total, 21 child care centres and 6 paediatric primary care centres from all over Saxony-Anhalt were involved. Results: It turns out that the majority of parents are satisfied with the NHS and 97.7% are in favour of the offer of an NHS. Of the surveyed parents, 69.3% felt the information as sufficient. However, only 66.2% of parents took a closer look at the leaflet issued by the G-BA. In addition, 17.7% of respondents are dissatisfied with the professional competence of the examining staff. Conclusion: The study shows that the general attitude among parents towards newborn hearing screening was very positive. They felt reassured by it although there are some aspects still open to criticism.


Assuntos
Testes Auditivos/psicologia , Testes Auditivos/estatística & dados numéricos , Programas de Rastreamento/estatística & dados numéricos , Triagem Neonatal/estatística & dados numéricos , Pais/psicologia , Cooperação do Paciente/estatística & dados numéricos , Satisfação do Paciente/estatística & dados numéricos , Adulto , Atitude Frente a Saúde , Competência Clínica/estatística & dados numéricos , Alemanha/epidemiologia , Pesquisas sobre Atenção à Saúde , Humanos , Recém-Nascido , Programas de Rastreamento/psicologia , Programas Nacionais de Saúde/estatística & dados numéricos , Triagem Neonatal/psicologia , Recusa de Participação , Adulto Jovem
10.
Artigo em Alemão | MEDLINE | ID: mdl-27999872

RESUMO

BACKGROUND: The diagnostic use of whole-genome sequencing (WGS) is a growing issue in medical care. Due to limited resources in public health service, budget-impact analyses are necessary prior to implementation. OBJECTIVE: A budget-impact analysis for WGS of all newborns and diagnostic investigation of tumor patients in different oncologic indications were evaluated. METHODS: A cost analysis of WGS based on a quality-assured process chart for WGS at the German Cancer Research Center (DKFZ), Heidelberg, constitutes the basis for this evaluation. Data from the National Association of Statutory Health Insurance Funds and the Robert-Koch-Institute, Berlin, were used for calculations of specific clinical applications. RESULTS AND DISCUSSION: WGS in newborn screening leads to costs of € 2.85 bn and to an increase of total expenditure by 1.41%. Sequencing of all tumor patients would cost approximately € 0.84 bn, which corresponds to 0.42% of total expenditures. In all scenarios, the sole consideration of procedure costs results in increasing costs. However, in cost discussions potential savings (reduction of disease-related follow-up-costs, improved cost-effectiveness of medical measures etc.) should be considered. Such considerations are the subject of economic indication-specific evaluations. WGS has the potential to generate a large number of deterministic findings for which treatment options are limited. Hence, it is necessary to limit indications, in which WGS has proven medical evidence.


Assuntos
Mapeamento Cromossômico/economia , Testes Genéticos/economia , Custos de Cuidados de Saúde/estatística & dados numéricos , Sequenciamento de Nucleotídeos em Larga Escala/economia , Triagem Neonatal/economia , Padrões de Prática Médica/economia , Mapeamento Cromossômico/estatística & dados numéricos , Efeitos Psicossociais da Doença , Testes Genéticos/estatística & dados numéricos , Alemanha/epidemiologia , Sequenciamento de Nucleotídeos em Larga Escala/estatística & dados numéricos , Humanos , Recém-Nascido , Triagem Neonatal/estatística & dados numéricos , Padrões de Prática Médica/estatística & dados numéricos
11.
DST j. bras. doenças sex. transm ; 28(4): 120-125, 20161220.
Artigo em Inglês | LILACS | ID: biblio-877766

RESUMO

De acordo com as normas do Programa de Humanização no Pré-Natal e Nascimento, do Ministério da Saúde, a gestante deve realizar dois exames laboratoriais para detecção da sífilis. Objetivo: Avaliar oportunidades perdidas no rastreamento de sífilis gestacional e identificar fatores associados à não realização do teste Venereal Disease Research Laboratory (VDRL) no pré-natal. Métodos: Estudo de corte transversal realizado em maternidade do Sistema Único de Saúde da cidade do Recife, no Nordeste do Brasil. Foram estudadas 460 mulheres admitidas por término da gravidez e/ou abortamento, entre setembro e outubro de 2013, que realizaram ao menos uma consulta de pré-natal. Foram realizadas entrevistas e consulta ao cartão de pré-natal e prontuários. As mulheres que não realizaram pelo menos um VDLR no pré-natal (categoria de referência) foram comparadas com aquelas que realizaram. Nas informações colhidas nos 408 cartões da gestante, foi utilizada a regressão logística para identificar fatores associados com a não realização do rastreio. Resultados: Uma parte correspondente a 17,90% das mulheres não realizou o VDRL. Na análise multivariada, apresentaram maior chance de não realizar o VDRL as mulheres que: enfrentaram dificuldades para realizar o exame; realizaram a última consulta antes do último trimestre da gravidez; passaram por menos de seis consultas; realizaram pré-natal em unidade que não realizava agendamento das consultas subsequentes; tinham 19 anos ou menos de idade; tinham três ou mais gravidezes. Conclusão: Os resultados mostram que, apesar da elevada cobertura da atenção pré-natal, persiste uma baixa efetividade das ações de prevenção da sífilis congênita.


According to the norms issued by the Ministry of Health for the Prenatal and Birth Humanization Program, pregnant women should undergo two tests for syphilis detection. Objective: To evaluate missed opportunities for screening gestational syphilis and to identify factors associated with the missing application of the Venereal Disease Research Laboratory (VDRL) test during prenatal development. Methods: This cross-sectional study was undertaken in the maternity ward of a Unified Public Health System (SUS) hospital in the city of Recife in northeastern Brazil. We studied 460 women admitted for termination of pregnancy and/or abortion, between September and October 2013, who had at least one prenatal consultation. We conducted interviews and checked patients' prenatal care records and medical records. Women who did not take at least one VDRL test during prenatal development (reference category) were compared with those who did. Logistic regression was performed on the data collected from the 408 pregnancy records analyzed in order to identify factors associated with a failure to undergo syphilis screening. Results: 17.90% of the women in the sample did not take the VDRL test. In multivariate analysis, women who fit the following factors presented a greater chance of not having taken the VDRL test: facing difficulties in taking the test; attendance of the last prenatal consultation before the last trimester of pregnancy; attending less than six consultations; receiving prenatal care in hospital units which did not schedule subsequent exams; being 19 years of age or younger; having had three or more pregnancies. Conclusion: Results show that despite the high availability of prenatal care, actions aimed at preventing congenital syphilis still present low effectiveness.


Assuntos
Humanos , Feminino , Gravidez , Adulto , Cuidado Pré-Natal , Fatores de Risco , Sífilis Congênita/diagnóstico , Sífilis Congênita/epidemiologia , Triagem Neonatal/estatística & dados numéricos , Infecções Sexualmente Transmissíveis
12.
Int J Pediatr Otorhinolaryngol ; 90: 77-85, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-27729159

RESUMO

OBJECTIVE: By comparing the Universal Neonatal Hearing Screening (UNHS) program as implemented in Shanghai and other regions in China and countries around the world, this study makes an assessment of the Shanghai model and summarizes the experiences implementing the UNHS program, so as to provide a valuable reference for other countries or regions to carry out UNHS more effectively. Since Shanghai is one of the most developed regions in China, we also examined the relationship between economic development and the UNHS starting year and coverage rate. METHODS: The study conducted a systematic review of published studies in Chinese and English on the program status of neonatal hearing screening to compare and analyze the implementation of the UNHS program in 20 cities or provinces in China and 24 regions or countries around the world. The literature search in Chinese was conducted in the three most authoritative publication databases, CNKI (China National Knowledge Infrastructure), WANFANGDATA, and CQVIP (http://www.cqvip.com/). We searched all publications in those databases with the keywords "neonatal hearing screening" (in Chinese) between 2005 and 2014. English literature was searched using the same keywords (in English). The publication database included Medline and Web of Science, and the search time period was 2000-2014. RESULTS: Shanghai was one of the first regions in China to implement UNHS, and its coverage rate was among the top regions by international comparison. The starting time of the UNHS program had no relationship with the Gross Domestic Product (GDP) per capita in the same year. Economic level serves as a threshold for carrying out UNHS but is not a linear contributor to the exact starting time of such a program. The screening coverage rate generally showed a rising trend with the increasing GDP per capita in China, but it had no relationship with the area's GDP per capita in selected regions and countries around the world. The system design of UNHS is the key factor influencing screening coverage. Policy makers, program administrators, and cost-sharing structures are important factors that influence the coverage rates of UNHS. CONCLUSION: When to carry out a UNHS program is determined by the willingness and preference of the local government, which is influenced by the area's social, political and cultural conditions. Mandatory hearing screening and minimal-cost to no-cost intervention are two pillars for a good coverage rate of UNHS. In terms of system design, decision-making, implementation, funding and the concrete implementation plan are all important factors affecting the implementation of the UNHS.


Assuntos
Produto Interno Bruto/estatística & dados numéricos , Transtornos da Audição/diagnóstico , Testes Auditivos , Triagem Neonatal/organização & administração , Triagem Neonatal/estatística & dados numéricos , China , Desenvolvimento Econômico , Transtornos da Audição/economia , Transtornos da Audição/terapia , Humanos , Recém-Nascido , Triagem Neonatal/tendências , Desenvolvimento de Programas
15.
J Surg Res ; 203(2): 398-406, 2016 06 15.
Artigo em Inglês | MEDLINE | ID: mdl-27363649

RESUMO

BACKGROUND: The aim of this study was to establish the rate of screening for associated cardiac, vertebral, spinal cord, urologic, and limb anomalies vertebral ano-rectal cardiac tracheo-esophageal renal limb (VACTERL) in children with anorectal malformation (ARM). METHODS: We performed a retrospective cohort study using the Medicaid Analytic eXtract database which contains enrollment and utilization claims and demographic information from all Medicaid enrollees. Patients born between January 2005 and December 2008 with International Classification of Diseases, Ninth Revision codes for a diagnosis of ARM within 30 days of life, an ARM procedure code during the first year of life, and a minimum of 12 months of continuous enrollment were included. VACTERL screening was determined using International Classification of Diseases, Ninth Revision and Current Procedural Terminology codes for diagnostic tests used to detect these anomalies. RESULTS: A total of 406 patients were identified (231 males). Evaluation of the spinal vertebrae was performed in 94% of patients (381 of 406). Spinal cord evaluation was performed in 57% (231 of 406): 52% (121 of 231) received spinal ultrasound (US), 24% (56 of 231) received spinal magnetic resonance imaging, and 23% (54 of 231) received both. Sacral radiographs were performed in 8% (32 of 406) and 77% (313 of 406) underwent an echocardiogram. Genitourinary evaluation was performed in 84% (341 of 406): 67% (229 of 341) received renal US, 8% (27 of 341) received abdominal US, and 25% (85 of 341) received both. Limb evaluation was recorded in 19% (76 of 406). Multiple screening including an echocardiogram, spinal radiograph, spinal cord evaluation, and renal evaluation was performed in 45% (181 of 406); 2% (7 of 406) did not receive any screening tests. CONCLUSIONS: Low VACTERL screening in children with ARM suggests that associated anomalies may be undiagnosed which may lead to increased long-term morbidity.


Assuntos
Anormalidades Múltiplas/diagnóstico , Canal Anal/anormalidades , Malformações Anorretais/diagnóstico , Esôfago/anormalidades , Cardiopatias Congênitas/diagnóstico , Rim/anormalidades , Deformidades Congênitas dos Membros/diagnóstico , Triagem Neonatal/estatística & dados numéricos , Padrões de Prática Médica/estatística & dados numéricos , Coluna Vertebral/anormalidades , Traqueia/anormalidades , Feminino , Humanos , Recém-Nascido , Masculino , Medicaid , Estudos Retrospectivos , Estados Unidos
16.
Brain Dev ; 38(5): 491-7, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-26563984

RESUMO

OBJECTIVES: To estimate the incidence of MMA on newborn screening in Shandong province from May 2011 to May 2014 and summarize the clinical presentation, biochemical features, mutation analysis, and treatment regime of early-treated patients with cblC disease. METHODS: Between May 2011 and May 2014, 35,291 newborns were screened for MMA in Jinan maternal and Child Care Hospital, Shandong province. The levels of C3, C3/C2, methionine and tHcy were measured. Most patients received treatment with intramuscular hydroxocobalamin after diagnosis. Metabolic parameters, clinical presentation and mental development were followed up. RESULTS: Nine patients were identified among 35,291 by newborn screening, giving an estimated incidence of 1:3920 live births for MMA, and all were classified as cblC disease. Among them, five patients received treatment with intramuscular hydroxocobalamin and two patients did not receive any treatment. One patient died of metabolic crises triggered by infection at the age of 38 days. Seven different mutations (c.609G>A, c.455_457delCCC, c.394C>T, c.445_446insA, c.658_660delAAG, c.452A>G and IVS1+1G>A) were detected. The mutations (c.455_457delCCC and IVS1+1G>A) are novel. Five patients who received treatment had favorable metabolic response, with both reduction of urine MMA and tHcy and increase of methionine. We obtained 7 records of DQ assessment. The five patients who received treatment presented with developmental delay and obvious neurological manifestations. In two patients who did not receive any treatment, case 8 presented with severe mental retardation and developmental delay, while case 9 had nearly normal DQ values at the age of 1(1/12)years. CONCLUSION: Our study characterized variable phenotypes of neurodevelopment in early-treated cblC patients diagnosed on newborn screening. The long-term outcomes of cblC disease are unsatisfactory in spite of conventional treatment and improvement of biochemical abnormalities. Although the number of patients is too small, the information provided in this work is of value in highlighting possible genotype-phenotype correlation that influences outcomes in cblC disease by future studies.


Assuntos
Homocistinúria/epidemiologia , Homocistinúria/etiologia , Deficiência de Vitamina B 12/congênito , Erros Inatos do Metabolismo dos Aminoácidos , Proteínas de Transporte/genética , China , Análise Mutacional de DNA , Feminino , Estudos de Associação Genética , Testes Genéticos , Homocistinúria/diagnóstico , Homocistinúria/genética , Humanos , Hiper-Homocisteinemia , Lactente , Recém-Nascido , Masculino , Ácido Metilmalônico , Triagem Neonatal/estatística & dados numéricos , Deficiência de Vitamina B 12/diagnóstico , Deficiência de Vitamina B 12/epidemiologia , Deficiência de Vitamina B 12/etiologia , Deficiência de Vitamina B 12/genética
19.
Rev Med Brux ; 36(4): 212-8, 2015 Sep.
Artigo em Francês | MEDLINE | ID: mdl-26591303

RESUMO

Newborn screening is a public health effort that has changed the prognosis of some congenital diseases. Newborn screening programmes differ between countries in which it is organized. Demographic, epidemiological or economic factors play a role in the choice of the screening panel. In the French Community of Belgium, the programme focuses on 13 metabolic and endocrine diseases, hearing loss and hemoglobinopathies (Brussels and Liege). Newborn screening is a complex process that requires the involvement of all stakeholders : parent information, blood sampling or testing, lab analysis, follow-up of the results, initiate adequate care in case of positive test and genetic counselling. Newborn screening programmes will evolve in the next years. New therapeutic and diagnostic methods will make other genetic diseases candidates for screening. Whole genome sequencing may be the next expansion; it will create new opportunities but will pose new ethical dilemmas. We must all prepare now for future challenges.


Assuntos
Triagem Neonatal , Pediatria , Papel do Médico , Feminino , Perda Auditiva , Testes Auditivos , Humanos , Recém-Nascido , Triagem Neonatal/métodos , Triagem Neonatal/estatística & dados numéricos , Gravidez
20.
J Perinat Neonatal Nurs ; 29(4): 315-44; quiz E2, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26505848

RESUMO

The revised version of the Score for Neonatal Acute Physiology (SNAP-II) has been used across all birth weights and gestational ages to measure the concept of severity of illness in critically ill neonates. The SNAP-II has been operationalized in various ways across research studies. This systematic review seeks to synthesize the available research regarding the utility of this instrument, specifically on the utility of measuring severity of illness sequentially and at later time points. A systematic review was performed and identified 35 research articles that met inclusion and exclusion criteria. The majority of the studies used the SNAP-II instrument as a measure of initial severity of illness on the first day of life. Six studies utilized the SNAP-II instrument to measure severity of illness at later time points and only 2 studies utilized the instrument to prospectively measure severity of illness. Evidence to support the use of the SNAP-II at later time points and prospectively is lacking and more evidence is needed.


Assuntos
Doenças do Recém-Nascido , Triagem Neonatal , Estado Terminal , Humanos , Recém-Nascido , Doenças do Recém-Nascido/diagnóstico , Doenças do Recém-Nascido/fisiopatologia , Unidades de Terapia Intensiva Neonatal , Triagem Neonatal/métodos , Triagem Neonatal/estatística & dados numéricos , Projetos de Pesquisa , Índice de Gravidade de Doença
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