Assuntos
Anormalidades Múltiplas , Deficiência Intelectual , Doenças do Sistema Nervoso , Distúrbios do Metabolismo do Fósforo , Convulsões , Criança , História do Século XX , Humanos , Deficiência Intelectual/complicações , Doenças do Sistema Nervoso/complicações , Pediatria/história , Publicações Periódicas como Assunto , Distúrbios do Metabolismo do Fósforo/complicações , Editoração , Convulsões/complicaçõesRESUMO
OBJECTIVE: To assess outcome in a cohort of patients with infantile hypercalcemia followed over 3 years. STUDY DESIGN: Patients (n = 32) presenting to the calcium clinic between July 2002 and September 2008 were studied. In addition to tests of calcium phosphate metabolism, serum insulin-like growth factor-1, calcitonin, urine citrate, and calcium-sensing receptor gene analysis were obtained. RESULTS: Mean age at presentation was 6.0 ± 6.3 months. Mean calcium level was 11.4 ± 0.7 mg/dL (2.84 ± 0.17 mmol/L). A recognized cause was found in 14% and a probable cause in 14% of the cohort. Those with nephrocalcinosis (n = 11) had significantly lower mean weight SDS and higher mean calcium levels. The biochemical profile of those in whom no cause could be determined included nonsuppressed parathyroid hormone with either normal or increased 1,25(OH)(2)D. Hypercalcemia resolved in 20 patients. However, in approximately a third, there was persistence in hypercalcemia, hypercalciuria, or nephrocalcinosis. CONCLUSIONS: The addition of 1,25(OH)(2)D and calcium-sensing receptor mutation analysis to a panel of investigations may improve diagnostic yield. Clinical outcome is overall good, however, one-third need ongoing follow-up.
Assuntos
Fosfatos de Cálcio/sangue , Cálcio/sangue , Hipercalcemia/diagnóstico , Fator de Crescimento Insulin-Like I/metabolismo , Pré-Escolar , Cromatografia Líquida de Alta Pressão , Análise Mutacional de DNA , Progressão da Doença , Feminino , Seguimentos , Humanos , Hipercalcemia/sangue , Hipercalcemia/genética , Lactente , Recém-Nascido , Masculino , Mutação , Hormônio Paratireóideo/sangue , Radioimunoensaio , Receptores de Detecção de Cálcio/genética , Estudos Retrospectivos , Índice de Gravidade de Doença , Espectrofotometria , Fatores de TempoRESUMO
OBJECTIVE: To estimate cystic fibrosis (CF) birth rates in Canada from 1971 to 2000 and to assess the population impact of genetic testing in families with a history of CF, after identification of the CF transmembrane conductance regulator gene in 1989. STUDY DESIGN: Age-at-diagnosis data were obtained from the Canadian Cystic Fibrosis Foundation Patient Data Registry and Canadian births for the corresponding years from Canadian Vital Statistics. Estimates of the CF birth rate in each year were based on a nonparametric model that allows the birth rate to vary across the years and adjusts for censoring of currently undiagnosed patients. RESULTS: The overall CF birth rate from 1971-1987 was 1/2714 with no increasing or decreasing trend. Beginning in 1988, 1 year before identification of the CF transmembrane conductance regulator gene, estimated CF birth rates followed a linear decline to an estimated rate of 1/3608 in 2000. CF birth rates may have stabilized in the last few years, but further decline may occur with implementation of carrier screening in the general population. CONCLUSIONS: These results demonstrate the temporal association of genetic testing and declining CF birth rates in Canada. They may assist in decisions relating to the allocation of resources for prenatal and neonatal CF screening programs.
Assuntos
Coeficiente de Natalidade/tendências , Fibrose Cística/epidemiologia , Canadá/epidemiologia , Fibrose Cística/diagnóstico , Fibrose Cística/genética , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Testes Genéticos , Humanos , Distribuição de Poisson , Diagnóstico Pré-Natal , Prevalência , Sistema de RegistrosRESUMO
By January 1998, most of Canada's cereal grain products were being fortified with folic acid. Among 336963 women who underwent antenatal maternal serum screening, the prevalence of orofacial clefts did not change from before (1.15 per 1000) to after (1.21 per 1000) food fortification (prevalence ratio, 1.06; 95% confidence interval, 0.86-1.30).