ABSTRACT
OBJECTIVES: To study the incidence of galactosaemia in the state of São Paulo and the benefit/cost (B/C) ratio of the introduction of neonatal screening for galactosaemia, comparing it with a selective approach. METHODS: An enzymatic-colorimetric assay was used for the screening of total galactose (TG) in a sample of 10% of the births in São Paulo in one year and positive cases were confirmed by the activity of galactose-1-phosphate uridyltransferase (GALT). Detected and referred cases were genotyped using enzyme restriction studies for Q188R, N314D and S135L mutations of the GALT gene. The economic analysis was determined by calculating the B/C ratio and by analysis of sensitivity as a function of the incidence of the disease detected and the variation of the interest rate in the economy. RESULTS: 59 953 newborns were screened for TG, with 3 cases of galactosaemia being identified (0.26% false positives), corresponding to a frequency of 1:19 984 liveborns (95% confidence interval: 1:7494 to 1:59 953). One classical case and one Duarte 2 variant referred to as a selective approach were confirmed. With an incidence of 1:19 984, the B/C ratio was 1.04 for the 11.75% interest rate in effect in Brazil, with values already decapitalized. With a maximum possible incidence of 1:7494, the B/C ratio was 2.79. DISCUSSION: There is an economic advantage in introducing neonatal screening for galactosaemia in the national neonatal screening programme. This advantage could increase with a reduction of the current interest rates in the economy.
Subject(s)
Galactosemias/economics , Galactosemias/epidemiology , Neonatal Screening/economics , Blood Chemical Analysis/economics , Brazil/epidemiology , Colorimetry/economics , Cost-Benefit Analysis , DNA Mutational Analysis/economics , Female , Galactose/blood , Galactosemias/diagnosis , Humans , Incidence , Infant, Newborn , Male , UDPglucose-Hexose-1-Phosphate Uridylyltransferase/blood , UDPglucose-Hexose-1-Phosphate Uridylyltransferase/geneticsABSTRACT
The efferent activity of the parasympathetic component of the autonomic nervous system was evaluated by measuring the magnitude of the respiratory sinus arrhythmia in 3 female patients with hyperthyroidism (Basedow-Graves' disease) before and after treatment. The heart rate variations induced by the test increased in all patients after treatment of thyrotoxicosis (from 15 + or - 2.9 to 28.3 + or - 6.6 beats/min; mean + or - SEM) with propylthiouracil (600 mg/day). This result confirms our previous observations indicating an important and reversible impairment of the efferent vagal activity in human hyperthyroidism
