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Biomedical subjects

F Taroni

Publications and source records attributed to F Taroni.

At least 109 records · Page 6Linked to original sources
PubMed1986

Glutamate dehydrogenase in olivopontocerebellar atrophies: leukocytes, fibroblasts, and muscle mitochondria.

Glutamate dehydrogenase (GDH) activity was 68% of control values in leukocyte homogenates of 11 patients with dominant olivopontocerebellar atrophies (OPCA) and 46% in muscle mitochondria of 4 patients with dominant OPCA. In three patients with recessive OPCA and in one sporadic patient, muscle GDH was lower than in controls. However, muscle GDH activity was normal in one of two dominant patients in the same family and decreased in the other, and patients' activities overlapped with lower control values. Plasma glutamate levels were significantly higher in dominant patients than in controls after glutamate challenge. GDH activity may be partially altered at the mitochondrial level in a subgroup of OPCA patients.

Brain Diseases↗
PubMed1986

Systemic carnitine deficiency due to lack of electron transfer flavoprotein:ubiquinone oxidoreductase.

A child with myopathy and systemic carnitine deficiency died at age 8 years in an acute metabolic attack. He had glutaric aciduria type II, and his cultured fibroblasts contained normal activity of four different acyl CoA dehydrogenases, but there was deficiency of electron transfer flavoprotein:ubiquinone oxidoreductase (ETF-QO). This enzyme is thought to reduce coenzyme Q in the respiratory chain, funneling reducing equivalents from seven flavoproteins in the beta-oxidation of acyl CoAs. There was massive urinary excretion of the short-chain acylcarnitines that accumulated in mitochondria as a result of the ETF-QO defect. Carnitine therefore acts as a buffer for excessive accumulation of intramitochondrial acyl CoAs, and defective beta-oxidation can cause carnitine insufficiency.

Acetylcarnitine↗
PubMedDate not supplied

Ursodeoxycholic acid vs. chenodeoxycholic acid as cholesterol gallstone-dissolving agents: a comparative randomized study.

Cholesterol gallstones are dissolved in man by chenodeoxycholic acid (CDCA) and ursodeoxycholic acid (UDCA). To test the comparative efficacy of these two cholelitholytic bile acids, 223 gallstones patients were randomly treated with either UDCA or CDCA at two different doses: 7 to 8 mg per kg per day and 14 to 15 mg per kg per day. Efficacy and factors influencing dissolution (dose, size of the stones, and time) were evaluated after 3, 6, and 12 months of treatment. UDCA was significantly more efficacious than was CDCA after 3 and 6 months of treatment, whereas after 12 months, no significant differences were observed. UDCA was equally effective at high and low doses, both on small and large stones. CDCA was significantly more effective at high doses and on small stones. Seventy-four per cent of the total dissolutions with UDCA and 42% with CDCA occurred within the first 6 months of treatment. Diarrhea and hypertransaminasemia occurred only in the CDCA-treated patients. We conclude that UDCA seems to be the bile acid of choice in dissolving cholesterol gallstones.

Adolescent↗
PubMedDate not supplied

Diagnostic effectiveness of serum bile acids in liver diseases as evaluated by multivariate statistical methods.

The aims of this study were to determine the diagnostic effectiveness of fasting and postprandial serum bile acid determinations in liver diseases, and to compare results with those of conventional liver function tests. In 322 patients with biopsy-proved liver disease and 93 healthy subjects, fasting and postprandial (2 hr) serum levels of cholic, chenodeoxycholic, and lithocholic acid conjugates and conventional liver function tests were evaluated. Data were subjected to variance and discriminant and factor analyses. Fasting serum bile acids were higher in patients when compared to controls and were significantly higher in severe than in mild liver diseases. Determination of cholic plus lithocholic acid provided the highest discrimination capacity. The percent of correct allocation was 75.4% for conventional liver function tests, 70.1% for fasting serum bile acids and increased to 79.6% when liver function tests plus serum bile acids were considered. Postprandial percentages were always lower than fasting. Factor analysis identified two factors possibly related to cytolysis and protein synthesis. The serum bile acid concentrations highly correlated with both factors. We conclude that serum bile acid determinations increase the diagnostic and discriminant capacities of liver function tests and are more sensitive and discriminant when obtained in fasting than postprandially.

Adult↗
PubMedDate not supplied

A population study on the prevalence of gallstone disease: the Sirmione Study.

The prevalence of gallstone disease (cholelithiasis and previous cholecystectomy for gallstones) in the population of the town of Sirmione, Italy, examined by ultrasonography, was 6.7% in men and 14.6% in women, ranging from 18 to 65 yr of age (overall prevalence = 11%). The prevalence of cholelithiasis in the same age span was 6.9% (4.5% in men and 8.9% in women). Prevalence of cholelithiasis increased with age in both sexes. Twenty-two percent of gallstone subjects suffered from biliary pain vs. 2% of subjects without gallstones. No difference was observed in the frequency of nonspecific symptoms between subjects with and without gallstones. Of the 132 gallstone subjects, 108 (82%) were not aware of having gallstones prior to the study. Prevalence of gallstone disease was found to be higher in obese and hypertriglyceridemic subjects and to increase with the number of pregnancies.

Adolescent↗
PubMedDate not supplied

Evaluation and presentation of forensic DNA evidence in European laboratories.

The first part of this article describes Bayes' theorem and its practical application to scientific evidence. Secondly, statements proposed by European DNA laboratories are presented, analysed and commented upon. Finally, the authors reiterate their proposal of adopting a likelihood ratio framework justified by the usefulness of the approach in practical context of DNA cases. Note that this framework underlines the main questions the experts have to answer at trial: to what degree does the evidence support the prosecutor's hypothesis? and to what degree does the evidence support the defence's hypothesis?

Bayes Theorem↗
PubMedDate not supplied

A simple logical approach to questioned envelopes examination.

This case report outlines research undertaken as the result of a document examination case in which two envelopes were involved. The combination of the circumstances of the case and the results of the examination allows a simple application of a logical approach to pre-assess the probability that an envelope (or a package) potentially recovered at a suspect's home comes from the same batch (same source) as questioned envelopes. This highlights that it is useful to examine envelopes.

Journal Article↗
PubMedDate not supplied

Bayesian framework for the evaluation of fibre transfer evidence.

The application of the likelihood ratio, derived in a Bayesian framework, to different case scenarios involving fibre evidence has permitted the authors to identify and evaluate the dominant parameters and their effect on the likelihood ratio. Moreover, it has been emphasized that these parameters are not only defined by the conditions of the contact, but also by the strategy chosen by the defence.

Bayes Theorem↗
PubMedDate not supplied

Probabilistic reasoning in the law. Part 1: Assessment of probabilities and explanation of the value of DNA evidence.

Problems associated with the interpretation of DNA evidence are investigated with reference to measures of uncertainty associated with the presentation of such evidence in an adversarial context. The use of probabilistic arguments associated with expert scientific testimony and cases where DNA evidence has been presented in court are studied. A series of problems were developed for, and given to, forensic medicine students, forensic science students and practitioners (advocates and forensic scientists) in Scotland to investigate their understanding of uncertainty. In the first part, four different methods of presentation of the value of DNA evidence were given to the participants and their responses are described. In the second part, different explanations of the value of DNA evidence as given by experts in court were given to the participants and their responses are described. The authors suggest improvements for the presentation of scientific evidence and for the education of future lawyers and forensic scientists.

DNA↗
PubMedDate not supplied

Probabilistic reasoning in the law. Part 2: Assessment of probabilities and explanation of the value of trace evidence other than DNA.

Problems associated with the interpretation of scientific evidence (fibres and glass) in forensic science are investigated with reference to measures of uncertainty associated with the presentation of such evidence in an adversarial context. The investigation includes the use of probabilistic arguments associated with expert scientific testimony in the courts. Cases where scientific evidence has been presented in court are studied. A series of problems were developed for, and given to, forensic medicine students' forensic science students and practitioners (advocates and forensic scientists) in Scotland to investigate their understanding of uncertainty.

Bayes Theorem↗
PubMedDate not supplied

The likelihood approach to compare populations: a study on DNA evidence and pitfalls of intuitions.

The paper follows on from earlier work [Taroni F and Aitken CGG. Probabilistic reasoning in the law, Part 1: assessment of probabilities and explanation of the value of DNA evidence. Science & Justice 1998; 38: 165-177]. Different explanations of the value of DNA evidence were presented to students from two schools of forensic science and to members of fifteen laboratories all around the world. The responses were divided into two groups; those which came from a school or laboratory identified as Bayesian and those which came from a school or laboratory identified as non-Bayesian. The paper analyses these responses using a likelihood approach. This approach is more consistent with a Bayesian analysis than one based on a frequentist approach, as was reported by Taroni F and Aitken CGG. [Probabilistic reasoning in the law, Part 1: assessment of probabilities and explanation of the value of DNA evidence] in Science & Justice 1998.

Bayes Theorem↗
PubMedDate not supplied

Phenotype and genotype variation in primary carnitine deficiency.

PURPOSE: Primary carnitine deficiency is an autosomal recessive disorder of fatty acid oxidation resulting from defective carnitine transport. This disease is caused by mutations in the carnitine transporter gene SLC22A5. The objective of this study was to extend mutational analysis to four additional families with this disorder and determine whether recurrent mutations could be found. METHODS: The SLC22A5 gene encoding the OCTN2 carnitine transporter was sequenced, and the missense mutations identified were expressed in Chinese hamster ovary (CHO) cells. RESULTS: DNA sequencing revealed four novel mutations (Y4X; dup 254-264, 133X; R19P; R399Q). Alleles introducing premature STOP codons reduced the levels of OCTN2 mRNA. Carnitine transport in CHO cells expressing the R19P and R399Q mutations was reduced to < 5% of normal. The 133X mutation was found in two unrelated European families. Two patients within the same family, both homozygous for the same mutation (R399Q) had completely different clinical presentation. CONCLUSIONS: Heterogeneous mutations in the SLC22A5 gene cause primary carnitine deficiency. Different presentations are observed even in children with identical mutations.

Animals↗
PubMedDate not supplied

Mortality among workers of three thermoelectric power plants in northern Italy: a retrospective cohort study.

During the last ten years, interest has been focussed on occupational exposure in thermoelectric power plants (i.e., coal dust, polycyclic aromatic hydrocarbons, dioxin, dielectric liquids, PCB's, asbestos, etc.), although available evidence on its effects on the health status of the occupational population are far from being definitive. A retrospective cohort study was carried out to investigate the association between exposure to risk factors and mortality for cancer in three thermoelectric power plants located in the north-east of Italy. The three plants studied started with oil and coal but since 1968 they utilized mostly coal as fuel. In spite of the different fuel used at the beginning, the production process has been fairly constant since the main conversion from oil to coal with a substantial increase in power production. A total of 1,772 male workers were included in the total study cohort and followed-up from 1968 to 1987, with a total of 22,090 person-years of exposure. Eighty percent of the cohort began to work in the plant before 30 years of age, and had a mean period of employment of 9.5 years. The cohort was completely traced to the end of the follow-up period by using an original computer system based on personal fiscal codes. Causes of death were ascertained in the municipalities where the deaths occurred and coded according to the International Classification of Disease, IX Revision. During the study period 68 deaths were observed with an SMR for all causes of death equal to 0.79.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗