Biomedical subjects

Anna Aprile

Publications and source records attributed to Anna Aprile.

3 recordsLinked to original sources

PubMed2005

Causality and methodology. Notes on thanatochronological estimations.

The authors propose some methodological considerations on thanatochronological estimations. They first consider the problem of the definition of death, and then they deal with the issue of the estimations of death time, that is, with the Post-Mortem Interval (PMI). As regards the first question, they note that it does not concern only the definition of death, but also the choice of a particular kind of definition of 'definition'. With reference to the second question, the authors suggest a causal model showing that the presence of many causal chains must be taken into consideration. Finally they discuss what 'most convenient and reliable causal chain' means for a thanatochronologist.

Animals↗

PubMed2004

Perianal and vulvar Crohn's disease presenting as suspected abuse.

Misdiagnosis of sexual abuse may arise in cases of vulvar and/or perianal diseases such as lichen sclerosus et atrophicus, Behcet's syndrome, bullous diseases, contact dermatitis, or neoplastic lesions. We present the case of a 7-year-old girl who was referred by her general paediatrician to the local hospital for perianal fissures and swelling of the labia majora. A report to the judicial authorities was made, for suspected sexual abuse, and the patient was transferred to the department of paediatric surgery. Here, histopathologic examination of vulvar and rectal biopsies revealed multiple non-caseating and non-confluent epithelioid-gigantocellular granulomas, consistent with a diagnosis of Crohn's disease, with cutaneous involvement of the genitalia. In cases of suspected sexual abuse, examination of children should be performed by a specialist in legal medicine in collaboration with a gynaecologist or paediatric surgeon. If the patient is hospitalised and the question of protection does not arise, physicians should exclude dermatological diseases before reporting to the judicial authorities.

Anus Diseases↗

PubMed2003

Characterization of the p53 mutants ability to inhibit p73 beta transactivation using a yeast-based functional assay.

p53 is the most frequently altered tumor suppressor gene in a wide spectrum of human tumors. The large majority of p53 mutations observed in tumors are missense mutations. The p73 gene, encoding a protein with significant sequence similarity to p53, expresses multiple transcription-competent spliced variants, or transcription-incompetent forms (i.e. DeltaNp73). It was clearly shown that p73 transactivation from a p53-responsive promoter is inhibited by some tumor-derived p53 mutants in eucaryotic cells. In this study, we adapted a yeast-based p53 functional assay for the analysis of the influences of different p53 mutants on the activity of one of the p73 isoforms, namely p73beta. We determined the ability of a panel of 61 p53 mutants to inhibit p73beta activity following the net transcription of the ADE2 color (red/white) reporter gene driven by a p53-responsive promoter. By analysing a large number of mutants, we could conclude that interference: (a) is a quite frequent phenomenon (more than 70% of p53 mutants analysed are interfering); (b) is not confined to p53 mutations located in particular topological regions of the DNA binding domain; (c) does not appear to be dependent on the kind of side chains introduced at a specific position; (d) appears to significantly correlate with evolutionary conservation of the mutated p53 codon, frequency of occurrence of the mutation in tumors. The influence of a common R/P polymorphism at codon 72 on the ability of p53 mutants to interfere with p73beta was also studied. Two sets of polymorphic variants (R and P) for 14 mutants were constructed and analysed. In all cases, the R/P 72 polymorphism was phenotypically irrelevant. In conclusion, our results suggest that the interpretation of the biological effects of p53 mutants should take into consideration the possibility that p53 mutants show loss or gain of function also through the interference with p53 family members.

Biological Assay↗