Novel Gene Acquisition on Carnivore Y Chromosomes

Despite its importance in harboring genes critical for spermatogenesis and male-specific functions, the Y chromosome has been largely excluded as a priority in recent mammalian genome sequencing projects. Only the human and chimpanzee Y chromosomes have been well characterized at the sequence level. This is primarily due to the presumed low overall gene content and highly repetitive nature of the Y chromosome and the ensuing difficulties using a shotgun sequence approach for assembly. Here we used direct cDNA selection to isolate and evaluate the extent of novel Y chromosome gene acquisition in the genome of the domestic cat, a species from a different mammalian superorder than human, chimpanzee, and mouse (currently being sequenced). We discovered four novel Y chromosome genes that do not have functional copies in the finished human male-specific region of the Y or on other mammalian Y chromosomes explored thus far. Two genes are derived from putative autosomal progenitors, and the other two have X chromosome homologs from different evolutionary strata. All four genes were shown to be multicopy and expressed predominantly or exclusively in testes, suggesting that their duplication and specialization for testis function were selected for because they enhance spermatogenesis. Two of these genes have testis-expressed, Y-borne copies in the dog genome as well. The absence of the four newly described genes on other characterized mammalian Y chromosomes demonstrates the gene novelty on this chromosome between mammalian orders, suggesting it harbors many lineage-specific genes that may go undetected by traditional comparative genomic approaches. Specific plans to identify the male-specific genes encoded in the Y chromosome of mammals should be a priority

Informatics Enhanced SNP Microarray Analysis of 30 Miscarriage Samples Compared to Routine Cytogenetics

Purpose: The metaphase karyotype is often used as a diagnostic tool in the setting of early miscarriage; however this technique has several limitations. We evaluate a new technique for karyotyping that uses single nucleotide polymorphism microarrays (SNP). This technique was compared in a blinded, prospective fashion, to the traditional metaphase karyotype. Methods: Patients undergoing dilation and curettage for first trimester miscarriage between February and August 2010 were enrolled. Samples of chorionic villi were equally divided and sent for microarray testing in parallel with routine cytogenetic testing. Results: Thirty samples were analyzed, with only four discordant results. Discordant results occurred when the entire genome was duplicated or when a balanced rearrangement was present. Cytogenetic karyotyping took an average of 29 days while microarray-based karytoyping took an average of 12 days. Conclusions: Molecular karyotyping of POC after missed abortion using SNP microarray analysis allows for the ability to detect maternal cell contamination and provides rapid results with good concordance to standard cytogenetic analysis

Genetic analysis of the skeletal remains attributed to Francesco Petrarca

Abstract We report on the mitochondrial DNA (mtDNA) analysis of the supposed remains of Francesco Petrarca exhumed in November 2003, from the S. Maria Assunta church, in Arquà Padua (Italy) where he died in 1374. The optimal preservation of the remains allowed the retrieval of sufficient mtDNA for genetic analysis. DNA was extracted from a rib and a tooth and mtDNA sequences were determined in multiple clones using the strictest criteria currently available for validation of ancient DNA sequences, including independent replication. MtDNA sequences from the tooth and rib were not identical, suggesting that they belonged to different individuals. Indeed, molecular gender determination showed that the postcranial remains belonged to a male while the skull belonged to a female. Historical records indicated that the remains were violated in 1630, possibly by thieves. These results are consistent with morphological investigations and confirm the importance of integrating molecular and morphological approaches in investigating historical remains.

Genetic analysis of the skeletal remains attributed to Francesco Petrarca

Abstract We report on the mitochondrial DNA (mtDNA) analysis of the supposed remains of Francesco Petrarca exhumed in November 2003, from the S. Maria Assunta church, in Arquà Padua (Italy) where he died in 1374. The optimal preservation of the remains allowed the retrieval of sufficient mtDNA for genetic analysis. DNA was extracted from a rib and a tooth and mtDNA sequences were determined in multiple clones using the strictest criteria currently available for validation of ancient DNA sequences, including independent replication. MtDNA sequences from the tooth and rib were not identical, suggesting that they belonged to different individuals. Indeed, molecular gender determination showed that the postcranial remains belonged to a male while the skull belonged to a female. Historical records indicated that the remains were violated in 1630, possibly by thieves. These results are consistent with morphological investigations and confirm the importance of integrating molecular and morphological approaches in investigating historical remains.

Developing a model of best practice for teams managing crisis in people with dementia: A consensus approach

Background: Teams delivering crisis resolution services for people with dementia and their carers provide short-term interventions to prevent admission to acute care settings. There is great variation in these services across the UK. This article reports on a consensus process undertaken to devise a Best Practice Model and evaluation Tool for use with teams managing crisis in dementia. Methods: The Best Practice Model and Tool were developed over a three stage process: (i) Evidence gathering and generation of candidate standards (systematic review and scoping survey, interviews and focus groups); (ii) Prioritisation and selection of standards (consultation groups, a consensus conference and modified Delphi process); (iii) Refining and operationalising standards (consultation group and field-testing). Results: 165 candidate standards arose from the evidence gathering stage; were refined and reduced to 90 through a consultation group exercise; and then reduced to 50 during the consensus conference and weighted using a modified Delphi process. Standards were then operationalised through a clinical consultation group and field-tested with 11 crisis teams and 5 non-crisis teams. Scores ranged from 48-92/100. The median score for the crisis teams was 74.5 (range 67-92), and the median score for non-crisis teams was 60 (range 48-72).Conclusions: With further psychometric testing, this Best Practice Model and Tool will be ideal for the planning, improvement and national benchmarking of teams managing dementia crises in the future

A Unique Partnership between an Educational Institution, a Mental Health Facility, Police Services, and a Regional Municipality: Using Simulation to Educate Frontline Police Officers.

This presentation highlights a unique partnership that began with a regional police service (Durham Regional Police Service), a mental health facility (Ontario Shores Centre for Mental Health Sciences) and a university (University of Ontario Institute of Technology) collaborating on several educational initiatives. Following these successes, the partnership was awarded a grant to create four simulations with interactive videos and an adaptive learning system that places police in realistic simulated situations and provides them with opportunities to respond to the scenarios and also receive detailed feedback. Developed within a Flash framework, the simulations also have a self-contained library with additional learning resources and are based on actual police experiences. The purpose of these learning objects is to educate police about mental illness and how to interact effectively with individuals living with mental illness. In 2010, York Regional Police Service joined the collaboration and educational sessions were developed for their frontline officers. In 2011, the partnership expanded again with the Ontario Provincial Police and the Regional Municipality of Durham (Department of Social Services) volunteering to take the lead in developing a simulation that focused on elder abuse and the community resources that are available to address some of the safety issues facing seniors. Research studies have been conducted to evaluate the educational effectiveness of these simulations and to determine whether officers are actually applying their knowledge on-the-job. Currently mandatory training for DRPS and OPP officers, the simulations are also being used by a variety of other police services and community and educational organizations. A demonstration of these interactive video-based learning objects will be provided. The key research findings as well as the challenges/benefits associated with maintaining and expanding the partnership will also be included in this presentation

The importance of instant impact: What matters to long‐term care staff and residents about taking part in research?

There is an urgent need for research that can inform policy and practice in long-term care.1 However, issues such as high levels of staff turnover,2 misconceptions and negative attitudes about research,3, 4 and chronic staff shortages5 are obstacles to engaging long-term care staff and residents with research. The COVID-19 pandemic also exposed gaps in the research infrastructure within long-term care,1 highlighting the need for innovative approaches that could foster a collaborative research culture within the long-term care sector.Understanding what long-term care staff and residents think and feel about research is an important first step toward collaborative research engagement. We therefore drew on field notes that we took during our conversations between researchers, and 11 members of staff and seven residents from two long-term care homes in Toronto (Canada) and one in Manchester (UK), in May and July 2023, about their views and experiences of taking part in research. The staff roles represented included management/directorship, care assistance, nursing, programming/activity coordination, research leadership, and administration. In this article, we share some of the key insights gained from these conversations about how researchers could more effectively engage staff and residents in research

Protocol for the development of an evidence-based ‘Best Practice Model’ for Teams Managing Crisis in Dementia

Background:Teams working in the community to manage crisis in dementia are available, but with widely varying models of practice it is difficult to determine the effectiveness of such teams. The aim of this study is to develop a model of best practice for dementia services managing crisis, as well as a set of resources to help teams implement this model: these will be (respectively) the Best Practice Tool and Toolkit, to improve the effectiveness of crisis teams working with older people with dementia and their carers.Objective:To detail a protocol describing the development a ‘Best Practice Model,’ to include a Best Practice Tool and Toolkit intended to measure and improve practice delivery.Methods:This paper describes the protocol for a prospective study which will use qualitative methods to establish an understanding of current practice to develop a ‘Best Practice Model,’ to include a Best Practice Tool and Toolkit intended to measure and improve practice delivery. Participants (people with dementia, carers, staff members and stakeholders) from a variety of geographical areas, with a broad experience of crisis and non-crisis working, will be purposively selected to participate in qualitative methodology including interviews, focus groups, a consensus workshop, and development and field testing of both the Best Practice Tool and Toolkit.Results:Not applicable as protocol is describing a prospective study for development of a 'Best Practice Model' for Teams Managing Crisis in Dementia.Conclusions:This is the first study to systematically explore the requirements needed to fulfil effective and appropriate home management for people with dementia and their carers at a time of mental health crisis, as delivered by Teams Managing Crisis in Dementia (TMCDs). This systematic approach to development will support greater acceptability and validity of the Best Practice Tool and Toolkit and lay the foundation for a large scale trial with TMCDs across England to investigate effects on practice and impact on service provision, and associated experiences of people with dementia and their carers. Clinical Trial: Not applicabl