Medico-legal considerations in a case of splenic injury that occurred during colonoscopy

Colonoscopy has became the gold standard diagnostic and therapeutic treatment for rectum and colon diseases. The splenic injury is a rare complication of colonoscopy and relatively few cases (less than 70) have been reported in the literature so far. Here we present a case of splenic rupture identified in a 80 year-old man few hours after an apparently uneventful colonoscopy. Acknowledging a causal relationship between the lesion and the diagnostic procedures, we discuss the possible medico-legal implications with regard to professional liability considering the exceptional nature of such an event and the stance recently taken by the Italian law

Functional disability and death wishes in older Europeans: results from the EURODEP concerted action

Functional disability was independently associated with death wishes in older adults. Results can help inform clinicians who care for older persons with functional impairment.</p

Comprehensive mutation analysis of 17 Y-chromosomal short tandem repeat polymorphisms included in the AmpFlSTR® Yfiler® PCR amplification kit

The Y-chromosomal short tandem repeat (Y-STR) polymorphisms included in the AmpFlSTR® Yfiler® polymerase chain reaction amplification kit have become widely used for forensic and evolutionary applications where a reliable knowledge on mutation properties is necessary for correct data interpretation. Therefore, we investigated the 17 Yfiler Y-STRs in 1,730–1,764 DNA-confirmed father–son pairs per locus and found 84 sequence-confirmed mutations among the 29,792 meiotic transfers covered. Of the 84 mutations, 83 (98.8%) were single-repeat changes and one (1.2%) was a double-repeat change (ratio, 1:0.01), as well as 43 (51.2%) were repeat gains and 41 (48.8%) repeat losses (ratio, 1:0.95). Medians from Bayesian estimation of locus-specific mutation rates ranged from 0.0003 for DYS448 to 0.0074 for DYS458, with a median rate across all 17 Y-STRs of 0.0025. The mean age (at the time of son’s birth) of fathers with mutations was with 34.40 (±11.63) years higher than that of fathers without ones at 30.32 (±10.22) years, a difference that is highly statistically significant (p < 0.001). A Poisson-based modeling revealed that the Y-STR mutation rate increased with increasing father’s age on a statistically significant level (α = 0.0294, 2.5% quantile = 0.0001). From combining our data with those previously published, considering all together 135,212 meiotic events and 331 mutations, we conclude for the Yfiler Y-STRs that (1) none had a mutation rate of >1%, 12 had mutation rates of >0.1% and four of <0.1%, (2) single-repeat changes were strongly favored over multiple-repeat ones for all loci but 1 and (3) considerable variation existed among loci in the ratio of repeat gains versus losses. Our finding of three Y-STR mutations in one father–son pair (and two pairs with two mutations each) has consequences for determining the threshold of allelic differences to conclude exclusion constellations in future applications of Y-STRs in paternity testing and pedigree analyses

The association between insight and depressive symptoms in schizophrenia: Undirected and Bayesian network analyses

Background. Greater levels of insight may be linked with depressive symptoms among patients with schizophrenia, however, it would be useful to characterize this association at symptom-level, in order to inform research on interventions. Methods. Data on depressive symptoms (Calgary Depression Scale for Schizophrenia) and insight (G12 item from the Positive and Negative Syndrome Scale) were obtained from 921 community-dwelling, clinically-stable individuals with a DSM-IV diagnosis of schizophrenia, recruited in a nationwide multicenter study. Network analysis was used to explore the most relevant connections between insight and depressive symptoms, including potential confounders in the model (neurocognitive and social-cognitive functioning, positive, negative and disorganization symptoms, extrapyramidal symptoms, hostility, internalized stigma, and perceived discrimination). Bayesian network analysis was used to estimate a directed acyclic graph (DAG) while investigating the most likely direction of the putative causal association between insight and depression. Results. After adjusting for confounders, better levels of insight were associated with greater self-depreciation, pathological guilt, morning depression and suicidal ideation. No difference in global network structure was detected for socioeconomic status, service engagement or illness severity. The DAG confirmed the presence of an association between greater insight and self-depreciation, suggesting the more probable causal direction was from insight to depressive symptoms. Conclusions. In schizophrenia, better levels of insight may cause self-depreciation and, possibly, other depressive symptoms. Person-centered and narrative psychotherapeutic approaches may be particularly fit to improve patient insight without dampening self-esteem

A global analysis of Y-chromosomal haplotype diversity for 23 STR loci

In a worldwide collaborative effort, 19,630 Y-chromosomes were sampled from 129 different populations in 51 countries. These chromosomes were typed for 23 short-tandem repeat (STR) loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385ab, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, GATAH4, DYS481, DYS533, DYS549, DYS570, DYS576, and DYS643) and using the PowerPlex Y23 System (PPY23, Promega Corporation, Madison, WI). Locus-specific allelic spectra of these markers were determined and a consistently high level of allelic diversity was observed. A considerable number of null, duplicate and off-ladder alleles were revealed. Standard single-locus and haplotype-based parameters were calculated and compared between subsets of Y-STR markers established for forensic casework. The PPY23 marker set provides substantially stronger discriminatory power than other available kits but at the same time reveals the same general patterns of population structure as other marker sets. A strong correlation was observed between the number of Y-STRs included in a marker set and some of the forensic parameters under study. Interestingly a weak but consistent trend toward smaller genetic distances resulting from larger numbers of markers became apparent.Peer reviewe

Evaluation of PowerPlex Fusion System on samples from forensic casework

A newly-commercialised Short Tandem Repeats (STRs) multiplex amplification kit, the PowerPlex1Fusion System (Promega) was evaluated on forensic casework samples and paternity testing. This kit is a24-loci multiplex including Combined DNA Index System (CODIS) and European Standard Set (ESS) coreloci, plus D2S1338, D19S433, Penta E, Penta D markers, Amelogenin for gender discrimination andDYS391 locus to identify null Y allele at Amelogenin locus.Difficult forensic casework samples included teeth, fingernails, mummified skin, formalin fixedparaffin-embedded (FFPE) tissues, buried scheletal muscle and DNA samples collected from variousobjects (sunglasses, clock, glass, sex toys). Samples were extracted with the QIAamp DNA Investigator kit(Qiagen) and subjected to 28\u201332 cycles of PCR amplification. Fragments were analyzed on ABI Prism3130 Genetic Analyzer with software GeneMapper ID-X v1.2 (Applied Biosystems).On average, more than 13 loci could be reliably typed in all forensic casework samples. Furthermorecomplete drop-out of loci greater than 250\u2013300 bp, including DYS391, was observed in highly degradedsamples. However, overall sensitivity of the system in typing difficult samples with low amounts oftemplate DNA and in presence of inhibitors was high. Although further validation studies are required,this STR kit represents a valid tool for the analysis of challenging forensic samples

Is the stamp son of the acoustic prothesis?

We describe an unusual case of deficient paternity testing, requested by the heirs, the wife and two legitimate daughters, on a father and his putative son, deceased respectively in 2007 and 2011. The analysis was resolved on two personal items of the defuncted: a postcard stamp 17 years-old, presumably sent by the putative son, and an acoustic prothesis belonged to the alleged father. Twenty-two autosomal short tandem repeats (STRs) from the commercial kit Powerplex\uae Fusion kit (Promega, Madison, WI) were analyzed on the acoustic prothesis and the mother\u2013daughters trio, giving a probability of paternity (W) of 99.999% and therefore confirming that the father owned the prothesis. Analysis of both autosomal and Y-chromosomal STRs by means of Powerplex\uae Fusion System and Powerplex\uae Y23 System (Promega, Madison, WI) was carried out on the two personal belongings.The obtained probability of paternity value W of 99.998% from autosomal STRs and the presence of an identical Y-chromosomal haplotype shared between the two males confirmed the genetic compatibility of the alleged father and his son