Strategies for pairwise searches in forensic kinship analysis

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Induction of apoptosis of human primary osteoclasts treated with extracts from the medicinal plant Emblica officinalis

<p>Abstract</p> <p>Background</p> <p>Osteoclasts (OCs) are involved in rheumatoid arthritis and in several pathologies associated with bone loss. Recent results support the concept that some medicinal plants and derived natural products are of great interest for developing therapeutic strategies against bone disorders, including rheumatoid arthritis and osteoporosis. In this study we determined whether extracts of <it>Emblica officinalis </it>fruits display activity of possible interest for the treatment of rheumatoid arthritis and osteoporosis by activating programmed cell death of human primary osteoclasts.</p> <p>Methods</p> <p>The effects of extracts from <it>Emblica officinalis </it>on differentiation and survival of human primary OCs cultures obtained from peripheral blood were determined by tartrate-acid resistant acid phosphatase (TRAP)-positivity and colorimetric MTT assay. The effects of <it>Emblica officinalis </it>extracts on induction of OCs apoptosis were studied using TUNEL and immunocytochemical analysis of FAS receptor expression. Finally, <it>in vitro </it>effects of <it>Emblica officinalis </it>extracts on NF-kB transcription factor activity were determined by gel shift experiments.</p> <p>Results</p> <p>Extracts of <it>Emblica officinalis </it>were able to induce programmed cell death of mature OCs, without altering, at the concentrations employed in our study, the process of osteoclastogenesis. <it>Emblica officinalis </it>increased the expression levels of Fas, a critical member of the apoptotic pathway. Gel shift experiments demonstrated that <it>Emblica officinalis </it>extracts act by interfering with NF-kB activity, a transcription factor involved in osteoclast biology. The data obtained demonstrate that <it>Emblica officinalis </it>extracts selectively compete with the binding of transcription factor NF-kB to its specific target DNA sequences. This effect might explain the observed effects of <it>Emblica officinalis </it>on the expression levels of interleukin-6, a NF-kB specific target gene.</p> <p>Conclusion</p> <p>Induction of apoptosis of osteoclasts could be an important strategy both in interfering with rheumatoid arthritis complications of the bone skeleton leading to joint destruction, and preventing and reducing osteoporosis. Accordingly, we suggest the application of <it>Emblica officinalis </it>extracts as an alternative tool for therapy applied to bone diseases.</p

Acute Delta Hepatitis in Italy spanning three decades (1991–2019): Evidence for the effectiveness of the hepatitis B vaccination campaign

Updated incidence data of acute Delta virus hepatitis (HDV) are lacking worldwide. Our aim was to evaluate incidence of and risk factors for acute HDV in Italy after the introduction of the compulsory vaccination against hepatitis B virus (HBV) in 1991. Data were obtained from the National Surveillance System of acute viral hepatitis (SEIEVA). Independent predictors of HDV were assessed by logistic-regression analysis. The incidence of acute HDV per 1-million population declined from 3.2 cases in 1987 to 0.04 in 2019, parallel to that of acute HBV per 100,000 from 10.0 to 0.39 cases during the same period. The median age of cases increased from 27 years in the decade 1991-1999 to 44 years in the decade 2010-2019 (p &lt; .001). Over the same period, the male/female ratio decreased from 3.8 to 2.1, the proportion of coinfections increased from 55% to 75% (p = .003) and that of HBsAg positive acute hepatitis tested for by IgM anti-HDV linearly decreased from 50.1% to 34.1% (p &lt; .001). People born abroad accounted for 24.6% of cases in 2004-2010 and 32.1% in 2011-2019. In the period 2010-2019, risky sexual behaviour (O.R. 4.2; 95%CI: 1.4-12.8) was the sole independent predictor of acute HDV; conversely intravenous drug use was no longer associated (O.R. 1.25; 95%CI: 0.15-10.22) with this. In conclusion, HBV vaccination was an effective measure to control acute HDV. Intravenous drug use is no longer an efficient mode of HDV spread. Testing for IgM-anti HDV is a grey area requiring alert. Acute HDV in foreigners should be monitored in the years to come

Reducing the environmental impact of surgery on a global scale: systematic review and co-prioritization with healthcare workers in 132 countries

Abstract Background Healthcare cannot achieve net-zero carbon without addressing operating theatres. The aim of this study was to prioritize feasible interventions to reduce the environmental impact of operating theatres. Methods This study adopted a four-phase Delphi consensus co-prioritization methodology. In phase 1, a systematic review of published interventions and global consultation of perioperative healthcare professionals were used to longlist interventions. In phase 2, iterative thematic analysis consolidated comparable interventions into a shortlist. In phase 3, the shortlist was co-prioritized based on patient and clinician views on acceptability, feasibility, and safety. In phase 4, ranked lists of interventions were presented by their relevance to high-income countries and low–middle-income countries. Results In phase 1, 43 interventions were identified, which had low uptake in practice according to 3042 professionals globally. In phase 2, a shortlist of 15 intervention domains was generated. In phase 3, interventions were deemed acceptable for more than 90 per cent of patients except for reducing general anaesthesia (84 per cent) and re-sterilization of ‘single-use’ consumables (86 per cent). In phase 4, the top three shortlisted interventions for high-income countries were: introducing recycling; reducing use of anaesthetic gases; and appropriate clinical waste processing. In phase 4, the top three shortlisted interventions for low–middle-income countries were: introducing reusable surgical devices; reducing use of consumables; and reducing the use of general anaesthesia. Conclusion This is a step toward environmentally sustainable operating environments with actionable interventions applicable to both high– and low–middle–income countries

Next-generation kinship, ancestry and phenotypic deduction for forensic and genealogical analysis

When a suspect cannot be identified by searching an investigative database of DNA profiles, attempts can be made to gather intelligence from DNA. These include kinship testing (finding relatives of the sample donor), and predicting externally visible characteristics (EVCs) and population of origin (biogeographical ancestry; BGA). This project explores the potential of genome-wide SNP chips and targeted massively parallel sequencing (MPS) in these areas.SNP chip data arguably forms the “gold standard” for kinship analysis. In a set of eight German pedigrees, the performance of SNP-chip analysis was compared to that of the MPS ForenSeq DNA Signature Prep. Kit, which can analyse up to 230 markers, including autosomal SNPs, and autosomal, X-chromosomal and Y-chromosomal STRs. Different methods (PLINK, GENESIS, PRIMUS - SNP chip data; forrel R package - MPS data) were evaluated. Incorporating information post facto on X-, Y- and mtDNA SNPs added value in some scenarios. The three methods for dense autosomal SNP data performed comparably in kinship estimation and pedigree reconstruction. Kinship coefficients were estimated from the MPS data. The sequence data revealed additional variation in some complex STR arrays and SNP flanking regions, and these variants together with the set of 230 targeted markers offered higher resolution in identity-by-descent estimation. To mimic forensic scenarios, real and simulated STR data were used in an implementation of kinship estimation via likelihood for multiple searches (“blind search”), including founder inbreeding and the addition of X-STRs.Finally, the ForenSeq kit was used to infer pigmentation phenotypes and estimate ancestry in a sample of African-Portuguese admixed individuals from Cape Verde, for whom genome-wide ancestry estimates and direct measurements of skin (melanin index) and eye colour (T-index) were available. This highlighted difficulties in both BGA and EVC estimation in admixed populations, and suggested that model-based approaches to ancestry are more useful than principal components analysis.</div

Margherita Colucci PhD thesis entitled 'Next-generation kinship, ancestry and phenotypic deduction for forensic and genealogical analysis ' - electronic appendices

Electronic appendices in Word and Excel format to the PhD thesis entitled 'Next-generation kinship, ancestry and phenotypic deduction for forensic and genealogical analysis' by Margherita Colucci, University of Leicester: Appendix 2 - for Chapter 2: Kinship estimation in a homogeneous population using genome-wide SNP data Appendix 3 - for Chapter 3: Kinship estimation in a European population using massively-parallel sequencing data on STRs and SNPs Appendix 4 - for Chapter 4: Strategies for pairwise searches in forensic kinship analysis Appendix 5 - for Chapter 5: Estimating biogeographical ancestry and phenotypes in a Portuguese-West African admixed population via massively parallel sequencing </p

Linee guida per l'attività fisica finalizzata alla prevenzione ed al trattamento del sovrappeso e dell'obesità in età adulta

Si presentano evidenze scientifiche sui benefici dell'attività fisica strutturata e destrutturata ed orientamenti metodologici per la pratica dell'attività fisica finalizzata alla prevenzione ed al trattamento dell'obesità e di altre patologie in età adulta

Vitamin D Levels in the Pre- and Post-COVID-19 Pandemic Periods and Related Confinement at Pediatric Age

Coronavirus disease 2019 (COVID-19) restrictions have been correlated with vitamin D deficiency in children, but some uncertainties remain. We retrospectively studied vitamin 25-(OH) D blood levels in 2182 Italian children/adolescents hospitalized for various chronic diseases in the year before (n = 1052) and after (n = 1130) the nationwide lockdown. The type of underlying disease, gender, and mean age (91 ± 55 and 91 ± 61 months, respectively) of patients included in the two periods were comparable. Although mean levels were the same (p = 0.24), deficiency status affected a significantly higher number of subjects during the lockdown period than in the pre-COVID period (p = 0.03), particularly in summer (p = 0.02), and there was also a smoothing of seasonal variations in vitamin D levels. Particularly at risk were males (OR = 1.22; p = 0.03), the 1–5 year age group (OR = 1.57; p p = 0.04). Infants appeared not to be affected (p = 1.00). In the post-COVID period, the risk of vitamin D deficiency was unchanged in disease-specific groups. However, the proportion of deficiency or severe deficiency differed significantly in the subgroup with endocrinopathy (higher; Chi-square p = 0.04), and with respiratory problems and obesity (lower; Chi-square p = 0.01 and p < 0.01, respectively). Conflicting/opposite literature results advocate for further studies to clearly indicate the need for supplementation during possible future periods of confinement

Linee guida per l'attività fisica finalizzata alla prevenzione ed al trattamento del sovrappeso e dell'obesità in età adulta

Si presentano evidenze scientifiche sui benefici dell'attività fisica strutturata e destrutturata ed orientamenti metodologici per la pratica dell'attività fisica finalizzata alla prevenzione ed al trattamento dell'obesità e di altre patologie in età adulta