Inappropriately repeated lipid tests in a tertiary hospital in Greece: the magnitude and cost of the phenomenon.

BACKGROUND: Demand and costs of laboratory testing are increasing worldwide. It seems that a considerable proportion of the tests requested do not follow the published guidelines. Tests comprising the lipid profile are advised for the entire population, as determinants of cardiovascular risk. Published guidelines exist for different groups of the population. This study is an attempt to assess the volume and the cost of the excessive demand for laboratory measurements of lipids concerning inpatients of a tertiary teaching hospital in Athens, Greece. METHODS: Tests were characterized as inappropriate through revision of guidelines for lipid measurement. The demand for laboratory measurement of lipid blood levels was studied by collecting data from the hospital's test result database. The study was conducted during the trimester October to December 2008 and 20,698 tests from 3,279 inpatients were reviewed+9. RESULTS: The results of this study are consistent with international observations showing a significant percentage of clinically inappropriate laboratory tests and the consequent financial burden. The inappropriately repeated lipid tests during the trimester reached the number of 7,938 costing € 12,680 to the hospital. Almost half of the inpatients were tested more than twice a month. CONCLUSIONS: Physicians' behavior is an important factor, as is derived by certain profiles of the wards studied. Guidelines are not followed when ordering lipid tests. Curtailing of these excessive laboratory tests has been shown to be feasible using cheap strategies and will yield considerable benefits for patients and hospitals alike.

Carnitine status and lactate increase in patients with type I juvenile diabetes.

AIM: In 32 juvenile patients suffering from insulin dependent diabetes we observed a carnitine imbalance (increase in acylcarnitine and reduction of free carnitine), which was higher in patients with the highest levels of glycosylated hemoglobin. Parallel to that, in patients with the most prominent carnitine imbalance, there was the highest increase in the postprandial lactic acid level and the highest increase in the lactate/pyruvate ratio, without relating to ketosis. In addition, we observed a decrease in free carnitine related to the length of time after appearance of diabetes. METHODS: This was a prospective study of a cohort of 32 children and young adolescents with insulin dependent diabetes mellitus. All patients were on insulin treatment. Plasma concentrations of total, free and acyl-Carnitine were evaluated in 12 hours fasting blood samples and before the morning administration of insulin. Blood glucose, cholesterol, triglycerides, and lactate, pyruvate, beta-hydroxybutyrate and free fatty acid levels were measured. RESULTS: The postprandial highest increase of the lactate and lactate/pyruvate ratio observed in patients with the highest degree of carnitine imbalance, namely with poorliest regulated diabetes, raises the question of a coincidental mitochondrial dysfunction. On the ground of our own data, such a claim cannot be substantiated for our patients. In contrast we suggest that the role of other factors like increased gluconeogenesis, degree of ketosis need to be sought. CONCLUSION: In order to clarify the role of carnitine in the pathophysiology of disease we need also data from other tissues. Carnitine in the peripheral blood reflects only the 1% of the total body carnitine ; furthermore, patients with diabetes exhibit changes in carnitine status not only in the peripheral blood but also in other body tissues, mainly in muscles.

Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses.

Inherited succinic semialdehyde dehydrogenase (SSADH; EC1.2.1.24; McKusick 271980) deficiency is a defect of GABA degradation which leads to accumulation of 4-hydroxybutyric acid (gamma-hydroxybutyric acid; GHB) in physiologic fluids of patients. Prenatal diagnosis (PND) was performed in three at-risk pregnancies employing combinations of: (1) reverse-transcription-polymerase chain reaction (RT-PCR) and genomic DNA amplification followed by sequencing using isolated leukocytes or cultured human lymphoblasts; (2) GHB quantitation in amniotic fluid; or (3) SSADH enzyme assay in chorionic villus (CV) and/or amniocytes. In two pregnancies, all analyses were concordant for prediction of disease status in the fetus. In the third case, enzyme activity in CV (deficient) and metabolite analysis in amniotic fluid (normal) were discordant. For clarification, mutation analysis was undertaken in CV, confirming heterozygosity for the mutation previously identified in the proband. We hypothesize that delayed transit time for shipment of CV between Greece and the United States (8 days) led to enhanced degradation of heterozygous SSADH enzyme activity. Our data demonstrate the importance of combined metabolite, enzyme, and DNA analysis for increased accuracy in the PND of SSADH deficiency.