PubMed · 15223706
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A Mårtensson, P Rustad, H Lund, H Ossowicki. 2004. Creatininium reference intervals for corrected methods.. https://doi.org/10.1080/00365510410002832
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The application of tandem mass spectrometry (MS/MS) to newborn screening has led to the detection of patients with a wider spectrum of inborn errors of metabolism. A definitive diagnosis can often be established early enough to start treatment before symptoms appear. Here, we review common biochemical findings in disorders caused by deficiency of 3-methylcrotonyl-CoA carboxylase, isobutyryl-CoA dehydrogenase, 2-methyl-3-hydroxybutyryl-CoA dehydrogenase, 3-ketothiolase, 2-methylbutyryl-CoA dehydrogenase, and medium chain acyl CoA dehydrogenase. The diagnosis of these disorders requires biochemical confirmation by measurement of plasma acylcarnitine profile, urine organic acids, and urine acylglycine profiles followed by measurement of enzyme activity or detection of causative mutations. Early treatment can improve the outcome of these disorders.
OBJECTIVES: To conduct a meta-analysis of the diagnostic performance of the percent free prostate-specific antigen (%fPSA) test in determining prostate cancer status and to assess its value in helping to decide whether to biopsy the prostate. METHODS: Articles identified through a MEDLINE search were included if they presented adequate original primary data to calculate a receiver operating characteristic (ROC) curve in subjects possessing histopathologically verified diagnoses. Articles containing subjects with concurrent, non-prostate-related genitourinary conditions were excluded. Percent free PSA sensitivity, specificity, ROC curves, and positive likelihood ratios were calculated for all PSA ranges and for the reflex range of PSA between 4 and 10 ng/mL. RESULTS: Among the 41 studies, containing 19,643 subjects, area under the curve for %fPSA was 0.70 for all PSA levels, decreasing to 0.68 in the reflex range. A test cutoff of 20% would lead to 92% sensitivity and 23% specificity. Positive likelihood ratios ranged from 1.0 to 4.0, exceeding 2.0 at %fPSA of 15% or less. Within the reflex range, however, likelihood ratios exceeded 2.0 only at %fPSA of 7% or less. CONCLUSIONS: Percent free PSA can be a useful adjunct to PSA for primary prostate cancer screening only under certain defined situations. In the "gray zone," or reflex range, of PSA testing, %fPSA improves clinical information only when levels reach extreme values.
OBJECTIVES AND METHODS: DETECT is a cross-sectional study of 55,518 unselected consecutive patients in 3188 representative primary care offices in Germany. In a random subset of 7519 patients, an extensive standardized laboratory program was undertaken. The study investigated the prevalence of cardiovascular disease, known risk factors (such as diabetes, hypertension and dyslipidemia and their co-morbid manifestation), as well as treatment patterns. The present analysis of the DETECT laboratory dataset focused on the prevalence and treatment of dyslipidemia in primary medical care in Germany. Coronary artery disease (CAD), risk categories and LDL-C target achievement rates were determined in the subset of 6815 patients according to the National Cholesterol Education Program (NCEP) ATP III Guidelines. RESULTS: Of all patients, 54.3% had dyslipidemia. Only 54.4% of the NCEP-classified dyslipidemic patients were diagnosed as 'dyslipidemic' by their physicians. Only 27% of all dyslipidemic patients (and 40.7% of the recognized dyslipidemic patients) were treated with lipid-lowering medications, and 11.1% of all dyslipidemic patients (41.4% of the patients treated with lipid-lowering drugs) achieved their LDL-C treatment goals. In conclusion, 80.3% of patients in the sample with dyslipidemia went undiagnosed, un-treated or under-treated.