Optimal testing policies for diagnosing patients with intermediary probability of disease.

This paper proposes a stochastic shortest path approach to find an optimal sequence of tests to confirm or discard a disease, for any prescribed optimality criterion. The idea is to select the best sequence in which to apply a series of available tests, with a view at reaching a diagnosis with minimum expenditure of resources. The proposed approach derives an optimal policy whereby the decision maker is provided with a test strategy for each a priori probability of disease, aiming to reach posterior probabilities that warrant either immediate treatment or a not-ill diagnosis.

Prognostic impact of clinic and ambulatory blood pressure components in high-risk type 2 diabetic patients: the Rio de Janeiro Type 2 Diabetes Cohort Study.

BACKGROUND: The prognostic importance of tight clinic blood pressure (BP) control is controversial in diabetic patients. The objective was to investigate the prognostic impact of clinic and ambulatory BPs for cardiovascular morbidity and mortality in type 2 diabetes. METHODS: In a prospective cohort study, 565 type 2 diabetic patients had clinical, laboratory and ambulatory BP monitoring (ABPM) data obtained at baseline and during follow-up. The primary endpoints were a composite of fatal and nonfatal cardiovascular events and all-cause mortality. Multivariable Cox survival and splines regression analyses assessed associations between each BP component [SBP, DBP and pulse pressure (PP)] and the endpoints. RESULTS: After a median follow-up of 5.75 years, 88 total cardiovascular events and 70 all-cause deaths occurred. After adjustments for cardiovascular risk factors, clinic SBP and DBPs were predictive of the composite endpoint but not of all-cause mortality, whereas all ambulatory BP components were predictors of both endpoints. Ambulatory systolic and PPs were the strongest predictors and achieved ambulatory BPs during follow-up improved risk prediction in relation to baseline values. When categorized at clinically relevant cut-off values, risk began only at clinic BPs at least 140/90 mmHg, whereas for ambulatory BPs it began at lower values (≥120/75 mmHg for the 24-h period). CONCLUSION: ABPM provides more valuable information regarding cardiovascular risk stratification than office BPs and should be performed, if possible, in every high-risk type 2 diabetic patient. Achieved 24-h ambulatory BPs less than 120/75 mmHg are associated with significant cardiovascular protection and, if confirmed by other studies, may be considered as BP treatment targets.

Triagem neonatal para hiperplasia adrenal congênita: experiência do estado do Rio de Janeiro / Congenital adrenal hyperplasia newborn screening: Rio de Janeiro experience

OBJETIVO: Descrever a distribuição das concentrações de 17OH Progesterona (17OHP) na triagem neonatal para pesquisa de Hiperplasia Adrenal Congênita por deficiência da 21hidroxilase (HAC-D21OH). CASUíSTICA E MÉTODO: Análise da 17OHP por método imunofluorimétrico em 76.360 amostras de sangue colhido em papel filtro no período de junho de 1992 a dezembro de 2000 no Estado do Rio de Janeiro. O valor de corte foi definido em 10ng/mL e os casos com resultados acima deste valor eram chamados para nova coleta. RESULTADOS: Foram reconvocados 38 casos para nova coleta, sendo confirmados 11 casos com a forma clássica da HAC-D21OH (4 do sexo masculino, 6 feminino e 1 indeterminado), com valores de 17OHP na primeira amostra variando de 25 a 254,5ng/mL (média de 133ng/mL) e na segunda amostra de 45,86 a 360ng/mL (média de 218,84ng/mL). Os pacientes com a forma perdedora de sal apresentaram concentrações mais elevadas que os com a forma virilizante simples, tanto na primeira amostra (média de 169,21 contra 27,46ng/mL) quanto na segunda (média de 227,16 versus 110,95ng/mL). As concentrções de 17OHP nos 27 casos não confirmados (falso-positivos) variaram de 10,27 a 27,50ng/mL (média de 14,80ng/mL) na primeira amostra e de 2,39 a 32,39ng/mL (média 10,07ng/mL) na segunda amostra. Oito mantiveram concentrações de 17OHP moderadamente elevadas, sendo que normalizaram no decorrer do primeiro ano de vida em 7 casos, e em 1 paciente, apesar de assintomático, manteve valores elevados de 17OHP durante o acompanhamento de oito anos, com teste de estímulo com ACTH compatível com a forma não clássica da HCA-D21OH. CONCLUSÃO: A dosagem da 17OHP foi um método eficaz para a triagem da HAC-D21OH sendo capaz de discriminar as crianças normais daquelas acometidas pela forma clássica da doença.

[Congenital adrenal hyperplasia newborn screening: Rio de Janeiro experience]. / Triagem neonatal para hiperplasia adrenal congênita: experiência do estado do Rio de Janeiro.

OBJECTIVE: To determine the 17OH progesterone (17OHP) levels in the neonatal screening for Congenital Adrenal Hyperplasia due to 21 hydroxylase deficiency (CAH-21OHD). CASUISTIC AND METHOD: The evaluation was performed using 76,360 paper filter samples, obtained from newborn screening in Rio de Janeiro from June 1992 to December 2000. The 17OHP were assayed by fluoroimmunoassay method using the blood collected onto filter paper cards. The cut-off level was 10 ng/mL. The infants with 17OHP levels above this cut-off were recalled to undergo a new dosage. RESULTS: Thirty-eight patients presented 17OHP levels above the cut-off limit. In 11 (4 males, 6 females, 1 undefined gender) the diagnoses of CAH-21OHD were confirmed. Their 17OHP levels ranged from 25 to 254.5 ng/mL (mean: 133.84 ng/mL) on the first analysis and from 46.86 to 360 ng/mL (mean: 218.84 ng/mL) on the second analysis. The patients with the salt-wasting form showed higher 17OHP levels when compared to simple virilizers, both on the first analysis (mean: 169.21 ng/mL vs 27.46 ng/mL) and on the second one (mean: 227.16 ng/mL vs 110.95 ng/mL). Among the 27 infants without confirmed disease (false-positives), 17OHP levels ranged from 10.27 to 27.5 ng/mL (mean: 14.8 ng/mL) on the first sample and from 2.39 to 32.39 ng/mL (mean: 10.07 ng/mL) on the second. In this group, 8 children maintained borderline 17OHP levels during a variable period, but in 7 of them it was normalized before the first year of life. In the remaining case, who was asymptomatic after 8 years of follow-up, a cortrosin stimulation test was compatible with the non-classic form of the disease. CONCLUSION: These data confirm that 17OHP analysis was a reliable test to CAH-21OHD neonatal screening and was able to differentiate between normal infants and those with the classical form of CAH-21OHD.