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1.
Pediatr Neonatol ; 56(4): 226-34, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-25534697

RESUMO

BACKGROUND: Pediatricians are physicians trained to provide comprehensive nonsurgical health care for children, but parents may consult other specialists when seeking medical help for their children. This study was designed to analyze the role of pediatricians and the changes in the patterns of ambulatory visits among different specialties for children under the age of 18 years in Taiwan during the past 13 years. METHODS: Data on ambulatory visits of children aged 0-17 years from 1999 to 2011 were retrieved from the National Health Insurance Research Database. The physician's specialty, level of the hospital, year of visit, age of the patient, and diagnoses of each ambulatory visit were analyzed. Four of the most commonly visited specialties-pediatrics, otolaryngology, family medicine, and internal medicine-were compared. The yearly trend of ambulatory visits to different specialties, difference in various age groups, influence of hospital levels, and the top 10 diagnoses were analyzed. RESULTS: A total of 1,618,033 ambulatory visits were identified and enrolled into our study. A comparison of the proportions of ambulatory visits between 1999-2003 and 2007-2011 showed that the proportions of visits increased from 27.1 ± 1.3% to 35.4 ± 1.0% for pediatricians, decreased from 32.8 ± 1.8% to 17.0 ± 0.8% for family physicians, and did not change for otolaryngologists and internal medicine physicians. Specifically, pediatricians were visited more often if the children were younger, or if the health-care facility (level of hospital) was either a medical center or a regional hospital. Upper respiratory tract infection was the top diagnosis, followed by acute bronchitis, and acute and chronic tonsillitis. CONCLUSIONS: The role of pediatricians in children's ambulatory care increased in importance from 1999 to 2011 in Taiwan. However, approximately two thirds of children sought ambulatory medical help from nonpediatric physicians. Thus, it is important to educate and encourage parents to visit pediatricians if their children require medical help.


Assuntos
Assistência Ambulatorial/métodos , Pediatria , Papel do Médico , Adolescente , Criança , Pré-Escolar , Bases de Dados Factuais , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Programas Nacionais de Saúde/estatística & dados numéricos , Taiwan
2.
Am J Med Genet A ; 164A(1): 54-61, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24243590

RESUMO

The aim of this study was to: (a) analyze the results of a large-scale newborn screening program for Pompe disease, and (b) establish an effective diagnostic protocol to obtain immediate, valid diagnosis of infantile-onset Pompe disease (IOPD) to promote earlier treatment and better outcomes. In this study, 402,281 newborns were screened for Pompe disease from January 1, 2008 to May 1, 2012. Infants with low acid α-glucosidase (GAA) activity were referred to Taipei Veterans General Hospital for diagnostic confirmation. Physical examination, biochemical parameter (creatine kinase [CK], alanine transaminase, aspartate aminotransferase, and lactate dehydrogenase), and echocardiogram assessments were performed immediately to effectively differentiate IOPD from suspected late-onset Pompe disease (LOPD) or false-positive cases with pseudodeficiency mutation. Six infants with IOPD all presented with hypotonia, extremely low GAA enzyme activity (≤0.5 µmol/L/hr) in initial dried blood spot analysis, high CK (≥250 U/L), and high left ventricular mass index (LVMI, ≥80 g/m(2)). By analyzing these parameters, IOPD was distinguished effectively and immediately from suspected LOPD and false-positive cases. Except for the first referred case, five of the infants with IOPD received first-time enzyme replacement therapy (ERT) within 4 hr of admission and exhibited marked improvement. Our findings indicate that certain clinical manifestations (hypotonia, high CK, enlarged LVMI, and extremely low GAA enzyme activity in initial dried blood spot analysis) can help in the rapid and effective differentiation of patients with IOPD from other patient with low GAA activity. Such differentiation allows for the early application of first-time ERT and leads to better outcomes.


Assuntos
Doença de Depósito de Glicogênio Tipo II/diagnóstico , Doença de Depósito de Glicogênio Tipo II/epidemiologia , Programas de Rastreamento , Triagem Neonatal , Algoritmos , Feminino , Doença de Depósito de Glicogênio Tipo II/terapia , Humanos , Lactente , Recém-Nascido , Masculino , Programas Nacionais de Saúde , Taiwan/epidemiologia , alfa-Glucosidases/sangue , alfa-Glucosidases/genética
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