Sexuality and Romance in Individuals with Down Syndrome: Assessing the Relationship Between Parental Attitudes, Sexual Knowledge, and Experiences with Romance

The goal of this study is to explore factors associated with sexuality in children with Down Syndrome (DS), including demographic factors related to both parent and child (age, gender, ethnicity, etc.), child’s knowledge of and experiences with sexuality, and attitudes of the parents. The study further investigates factors that are associated with parental attitudes, indicated by willingness to permit the child to be alone with a romantic partner. The hypothesis tested is that the child’s age, gender, and developmental level, in addition to parental attitudes and concerns, are related to mothers’ willingness to allow the child to be alone with a partner. Data are analyzed using multivariate logistic regression. The results show that age and developmental level, but not gender, are statistically significantly associated with parental permissiveness. Additional factors impacting permissiveness include knowledge about sexuality, understanding of consent, and the specific source of sexual education. Understanding further the factors influencing and influenced by intimacy is vital in the effort to support autonomy for individuals with DS. Gaining insight into—and assessing the interplay of—these variables has the potential to influence advocacy for sexual independence among individuals with DS. This is the first study of its kind to look at sexuality in a broad age group and with a fine level of detail. We aspire to add to the currently limited depth of knowledge regarding this topic with hope that the results from this study may potentially lead to greater awareness of the importance of sexuality for individuals with DS

Qualitative focus group study investigating experiences of accessing and engaging with social care services: perspectives of carers from diverse ethnic groups caring for stroke survivors

OBJECTIVES: Informal carers, often family members, play a vital role in supporting stroke survivors with post-stroke disability. As populations age, numbers of carers overall and those from minority ethnic groups in particular, are rising. Carers from all ethnic groups, but especially those from black and minority ethnic groups frequently fail to access support services, making understanding their experiences important. The study therefore explored the experiences of carers of stroke survivors aged 45+ years from 5 ethnic groups in accessing and receiving social care services after hospital discharge. DESIGN: This qualitative study used 7 recorded focus groups with informal carers of stroke survivors. Data were analysed thematically focusing on similarities and differences between ethnic groups. SETTING: Carers were recruited from voluntary sector organisations supporting carers, stroke survivors and black and minority ethnic groups in the UK. PARTICIPANTS: 41 carers from 5 ethnic groups (Asian Indian, Asian Pakistani, black African, black Caribbean, white British) participated in the focus groups. RESULTS: Several interconnected themes were identified including: the service gap between hospital discharge and home; carers as the best person to care and cultural aspects of caring and using services. Many themes were common to all the included ethnic groups but some related to specific groups. CONCLUSIONS: Across ethnic groups there were many similarities in the experiences of people caring for stroke survivors with complex, long-term care needs. Accessing services demands effort and persistence on carers' part. If carers believe services are unsatisfactory or that they, rather than formal services, should be providing support for stroke survivors, they are unlikely to persist in their efforts. Cultural and language differences add to the challenges black and minority ethnic group carers face

Fission yeast telosomes: non-canonical histone-containing chromatin structures dependent on shelterin and RNA.

Despite the prime importance of telomeres in chromosome stability, significant mysteries surround the architecture of telomeric chromatin. Through micrococcal nuclease mapping, we show that fission yeast chromosome ends are assembled into distinct protected structures ('telosomes') encompassing the telomeric DNA repeats and over half a kilobase of subtelomeric DNA. Telosome formation depends on the conserved telomeric proteins Taz1 and Rap1, and surprisingly, RNA. Although yeast telomeres have long been thought to be free of histones, we show that this is not the case; telomere repeats contain histones. While telomeric histone H3 bears the heterochromatic lys9-methyl mark, we show that this mark is dispensable for telosome formation. Therefore, telomeric chromatin is organized at an architectural level, in which telomere-binding proteins and RNAs impose a unique nucleosome arrangement, and a second level, in which histone modifications are superimposed upon the higher order architecture

A national registry to assess the value of cardiovascular magnetic resonance imaging after primary percutaneous coronary intervention pathway activation:a feasibility cohort study

Background Cardiovascular magnetic resonance (CMR) is increasingly used in patients who activate the primary percutaneous coronary intervention (PPCI) pathway to assess heart function. It is uncertain whether having CMR influences patient management or the risk of major adverse cardiovascular events in these patients. Objective To determine whether or not it is feasible to set up a national registry, linking routinely collected data from hospital information systems (HISs), to investigate the role of CMR in patients who activate the PPCI pathway. Design A feasibility prospective cohort study. Setting Four 24/7 PPCI hospitals in England and Wales (two with and two without a dedicated CMR facility). Participants Patients who activated the PPCI pathway and underwent an emergency coronary angiogram. Interventions CMR either performed or not performed within 10 weeks of the index event. Main outcome measures A. Feasibility parameters – (1) patient consent implemented at all hospitals, (2) data extracted from more than one HIS and successfully linked for andgt; 90% of consented patients at all four hospitals, (3) HIS data successfully linked with Hospital Episode Statistics (HES) and Patient Episode Database Wales (PEDW) for andgt; 90% of consented patients at all four hospitals and (4) CMR requested and carried out for ≥ 10% of patients activating the PPCI pathway in CMR hospitals. B. Key drivers of cost-effectiveness for CMR (identified from simple cost-effectiveness models) in patients with (1) multivessel disease and (2) unobstructed coronary arteries. C. A change in clinical management arising from having CMR (defined using formal consensus and identified using HES follow-up data in the 12 months after the index event). Results A. (1) Consent was implemented (for all hospitals, consent rates were 59–74%) and 1670 participants were recruited. (2) Data submission was variable – clinical data available for ≥ 82% of patients across all hospitals, biochemistry and echocardiography (ECHO) data available for ≥ 98%, 34% and 87% of patients in three hospitals and medications data available for 97% of patients in one hospital. (3) HIS data were linked with hospital episode data for 99% of all consented patients. (4) At the two CMR hospitals, 14% and 20% of patients received CMR. B. In both (1) multivessel disease and (2) unobstructed coronary arteries, the difference in quality-adjusted life-years (QALYs) between CMR and no CMR [‘current’ comparator, stress ECHO and standard ECHO, respectively] was very small [0.0012, 95% confidence interval (CI) –0.0076 to 0.0093 and 0.0005, 95% CI –0.0050 to 0.0077, respectively]. The diagnostic accuracy of the ischaemia tests was the key driver of cost-effectiveness in sensitivity analyses for both patient subgroups. C. There was consensus that CMR leads to clinically important changes in management in five patient subgroups. Some changes in management were successfully identified in hospital episode data (e.g. new diagnoses/procedures, frequency of outpatient episodes related to cardiac events), others were not (e.g. changes in medications, new diagnostic tests). Conclusions A national registry is not currently feasible. Patients were consented successfully but conventional consent could not be implemented nationally. Linking HIS and hospital episode data was feasible but HIS data were not uniformly available. It is feasible to identify some, but not all, changes in management in the five patient subgroups using hospital episode data. The delay in obtaining hospital episode data influenced the relevance of some of our study objectives. Future work To test the feasibility of conducting the study using national data sets (e.g. HES, British Cardiovascular Intervention Society audit database, Diagnostic Imaging Dataset, Clinical Practice Research Datalink). Funding The National Institute for Health Research (NIHR) Health Services and Delivery Research programme. This study was designed and delivered in collaboration with the Clinical Trials and Evaluation Unit, a UK Clinical Research Collaboration-registered clinical trials unit that, as part of the Bristol Trials Centre, is in receipt of NIHR clinical trials unit support funding. </jats:sec

Non-coding telomeric and subtelomeric transcripts are differentially regulated by telomeric and heterochromatin assembly factors in fission yeast

While telomere repeat-containing non-coding RNA has been identified in a variety of eukaryotes, its biological role is not yet clear. We have identified telomeric transcripts in fission yeast, a model system that combines precise genetic manipulability with telomeres remarkably similar to those of human. Like human and budding yeast, fission yeast harbours a population of telomeric RNA molecules containing G-rich telomeric repeats transcribed from the subtelomere to the telomere. In addition, we detect substantial levels of C-rich telomeric RNA whose appearance is independent of the RNA-dependent RNA polymerase, suggesting that the telomere repeats themselves serve as promoter sites; multiple distinct subtelomeric RNAs are also present. The regulation of these transcripts depends on the telomere-associated proteins Taz1 and Rap1, as deletion of taz1+ or rap1+ leads to increased levels of both telomere repeat-containing and subtelomeric transcripts. In contrast, loss of the heterochromatin proteins Swi6 or Clr4 or the telomerase regulator Rif1 results in elevated subtelomeric RNA levels while telomere-repeat containing transcript levels remain repressed. Coupled with the large body of knowledge surrounding the functions of telomeric and heterochromatin factors in fission yeast, these in vivo analyses suggest testable models for the roles of TERRA in telomere function