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Biomedical subjects

P Benciolini

Publications and source records attributed to P Benciolini.

At least 19 recordsLinked to original sources

Withholding/withdrawing treatment from neonates: legislation and official guidelines across Europe.

Representatives from eight European countries compared the legal, ethical and professional settings within which decision making for neonates takes place. When it comes to limiting treatment there is general agreement across all countries that overly aggressive treatment is to be discouraged. Nevertheless, strong emphasis has been placed on the need for compassionate care even where cure is not possible. Where a child will die irrespective of medical intervention, there is widespread acceptance of the practice of limiting aggressive treatment or alleviating suffering even if death may be hastened as a result. Where the infant could be saved but the future outlook is bleak there is more debate, but only two countries have tested the courts with such cases. When it comes to the active intentional ending of life, the legal position is standard across Europe; it is prohibited. However, recognising those intractable situations where death may be lingering and unpleasant, Dutch paediatricians have reported that they do sometimes assist babies to die with parental consent. Two cases have been tried through the courts and recent official recommendations have set out standards by which such actions may be assessed.

Advisory Committees↗

Genetic study of red cell esterase D polymorphism by ultrathin layer isoelectric focusing. Distribution in the Veneto population (Italy).

Human red cell Esterase D (EsD) was analyzed by isoelectric focusing (IEF) on ultrathin-layer polyacrylamide gel with a pH range of 5.0-6.0. Hemolysates were treated with Dithiothreitol to avoid loss of activity and change of the isozyme patterns by in vitro storage effects. In our sample of 951 unrelated persons from Veneto, seven different phenotypes were observed. The following allele frequencies were calculated: EsD1 = 0.8476, EsD2 = 0.1336, EsD5 = 0.0178, and EsDV = 0.0010.

Carboxylesterase↗

The polymorphism of plasminogen (PLG) by ultrathin-layer isoelectric focusing. Distribution in the Veneto population (Italy).

The distribution of plasminogen phenotypes in the population of Veneto was investigated by ultrathin-layer isoelectric focusing. In our sample (n = 1325), the three common phenotypes PLG1, PLG2, PLG2-1 and two further phenotypes PLG1-V and PLG2-V were, observed and the following frequencies calculated: PLG1 = 0.84038; PLG2 = 0.15811; PLGV = 0.00151. These gene frequencies are compared to those found in other populations. Analysis of 41 mother-child pairs was in agreement with an autosomal codominant inheritance.

Adult↗

Radiation-induced coronary obstructive atherosclerosis and sudden death in a teenager.

An 18-year-old woman, affected by Hodgkin's disease and treated successfully with radiotherapy, died suddenly. The postmortem study showed an acute septal myocardial infarction in the presence of a severe focal atherosclerotic lesion of the anterior descending coronary artery. This suggests that radiation may contribute to the early development of coronary artery disease.

Adolescent↗

Gc subtypes determined by ultrathin-layer isoelectric focusing. Distribution in the Veneto population (Italy).

The distribution of Gc phenotypes in the population of Veneto was investigated by ultrathin-layer isoelectric focusing. In our sample (n = 732) the six common phenotypes, Gc 1S, 1F, 1S1F, 2, 2-1S, 2-1F and a further phenotype, GC 1S1C3, were observed and the following frequencies calculated: Gc 1S = 0.560792; GC 1F = 0.159153; Gc2 = 0.277323; Gc 1C3 = 0.002732. Our gene frequencies have been compared with those found in other populations.

Gene Frequency↗

The detection of A and B antigens on human hair by the absorption-elution technique using LISS and papain-treated test cells.

The absorption-elution technique with low ionic strength solution (LISS) and papain-treated test cells previously used for bloodstains was employed for the detection of ABO antigens on human hair. Antigen identification was always possible, with good intensity of agglutination, even in those cases where classic techniques had given false-negative results. It was possible to obtain positive results with fragments of human hair as small as 0.2 cm.

ABO Blood-Group System↗

The polymorphism of transferrin by ultrathin-layer isoelectric focusing. Tf phenotypes and TfC subtypes in the population of Padua.

The distribution of Tf phenotypes in the population of Padua was investigated by ultrathin-layer isoelectric focusing. In our sample (n = 618) nine phenotypes, Tf C1, C2, C3, C3-1, C2-1, C3-2, C1B, C2B and C1D, were observed and the following frequencies calculated: TfC1 = 0.77837; TfC2 = 0.1804; TfC3 = 0.03641; TfB = 0.0040; TfD = 0.0008. These gene frequencies have been compared to those found in other populations. Analysis of 101 mother-child pairs was in agreement with an autosomal codominant mode of inheritance.

Child↗

Problems in determing A2B group specific properties in blood stains.

Blood stains belonging to various sub-group A combinations were examined by the absorption-elution method (in comparison with Holzer method and mixed agglutination). No difficulties were encountered in the identification of A1, A2, and A1B blood stains, while identification of A antigen in A2B stains was dubious (always negative with the others methods). This seems to be due to low anti-sera titer in relation to A antigen in this subgroup combination.

ABO Blood-Group System↗

Problems in probability of paternity interpretation.

This paper discusses the statistical interpretation of blood group findings in paternity testing. As a consequence of the large number of systems now employed, high probabilities of paternity are usual and evaluation problems arise. The purpose of this investigation was to calculate the paternity probabilities for a sample of legitimate families with a true father compared with those obtained in some cases of non-excluded men chosen randomly from the population as the accused fathers for the same mother-child pairs. The calculations were based on Essen-Möller formula, derived from Bayes' Theorem. The blood group systems taken into account were ABO, Rh, MNSs, Kell-Cellano, P1, Duffy, Lutheran, Kidd, Gc, Hp, Gm, Km, Tf, alpha 1-AT, AcP, PGM1, AK, ADA, EsD, 6-PGDH and GLO-I. Applied together these give an exclusion probability of 97.32%. The results of probability of paternity for some mother-child-father triplets and its comparison with the chance of exclusion for the same mother-child pairs are reported.

Humans↗

The distribution of some polymorphisms in Italy.

A wide data collection on blood group gene frequencies in Italian regions and provinces is presented. This report is the result of a joint collaboration of human geneticists and forensic haematologists started in 1979 and updates a previous work by the same group. The following genetic polymorphisms have been examined: red-cell antigens (ABO, FY, Kell, Kidd, Lewis, Lutheran, MNSs, P, Rhesus), red-cell enzymes (ACP1, ADA, AK1, ESD, GLO1, GPT, PGD, PGM1), plasma proteins (BF, C3, GC, HP, IGK, PI, TF). Data have been classified according to genetic systems, Italian regions and provinces. Gene frequencies were estimated by the maximum likelihood method. The goodness of fit to Hardy-Weinberg proportions has been evaluated by the likelihood ratio statistics. Genetic heterogeneity of provinces and regions is reported.

Blood Group Antigens↗