Factors associated with public knowledge of and attitudes to dementia: A cross-sectional study

IntroductionDementia is a major public health concern but one that continues to be stigmatised. We examine lay knowledge of dementia and attitudes to people with dementia as potential precursors of public anxiety, focusing on the social characteristics associated with (a) the formation of these attitudes, and (b) the perception of the need for restriction and control for people with dementia.MethodsAnalysis of the 2014 Northern Ireland Life and Times survey, which included questions on knowledge of, attitudes to and personal experience with dementia. We used (a) latent class analysis and (b) logistic regression to examine factors associated with respondent attitudes towards dementia.ResultsRespondents (n = 1211) had relatively good general knowledge of dementia, but limited knowledge of specific risk factors. Negative perceptions of dementia were mitigated somewhat by personal contact. A high proportion of respondents felt that high levels of control were appropriate for people diagnosed with dementia, even at early stages of the disease.ConclusionPersonal antipathy to dementia was highly prevalent despite ongoing public campaigns to increase public awareness of developments in its prevention, treatment and consequent care pathways and hampering efforts to widen social inclusion. Fresh thinking and more resources may be needed to challenge persisting common misapprehension of the condition and the formation of entrenched stigma

The genetic organisation of prokaryotic two-component system signalling pathways

<p>Abstract</p> <p>Background</p> <p>Two-component systems (TCSs) are modular and diverse signalling pathways, involving a stimulus-responsive transfer of phosphoryl groups from transmitter to partner receiver domains. TCS gene and domain organisation are both potentially informative regarding biological function, interaction partnerships and molecular mechanisms. However, there is currently little understanding of the relationships between domain architecture, gene organisation and TCS pathway structure.</p> <p>Results</p> <p>Here we classify the gene and domain organisation of TCS gene loci from 1405 prokaryotic replicons (>40,000 TCS proteins). We find that 200 bp is the most appropriate distance cut-off for defining whether two TCS genes are functionally linked. More than 90% of all TCS gene loci encode just one or two transmitter and/or receiver domains, however numerous other geometries exist, often with large numbers of encoded TCS domains. Such information provides insights into the distribution of TCS domains between genes, and within genes. As expected, the organisation of TCS genes and domains is affected by phylogeny, and plasmid-encoded TCS exhibit differences in organisation from their chromosomally-encoded counterparts.</p> <p>Conclusions</p> <p>We provide here an overview of the genomic and genetic organisation of TCS domains, as a resource for further research. We also propose novel metrics that build upon TCS gene/domain organisation data and allow comparisons between genomic complements of TCSs. In particular, '<it>percentage orphaned TCS genes</it>' (or 'Dissemination') and '<it>percentage of complex loci</it>' (or 'Sophistication') appear to be useful discriminators, and to reflect mechanistic aspects of TCS organisation not captured by existing metrics.</p

Pathogenesis of vestibular schwannoma in ring chromosome 22

<p>Abstract</p> <p>Background</p> <p>Ring chromosome 22 is a rare human constitutional cytogenetic abnormality. Clinical features of neurofibromatosis type 1 and 2 as well as different tumour types have been reported in patients with ring chromosome 22. The pathogenesis of these tumours is not always clear yet.</p> <p>Methods</p> <p>We report on a female patient with a ring chromosome 22 presenting with severe mental retardation, autistic behaviour, café-au-lait macules and facial dysmorphism. Peripheral blood lymphocytes were karyotyped and array CGH was performed on extracted DNA. At the age of 20 years she was diagnosed with a unilateral vestibular schwannoma. Tumour cells were analyzed by karyotyping, array CGH and <it>NF2 </it>mutation analysis.</p> <p>Results</p> <p>Karyotype on peripheral blood lymphocytes revealed a ring chromosome 22 in all analyzed cells. A 1 Mb array CGH experiment on peripheral blood DNA showed a deletion of 5 terminal clones on the long arm of chromosome 22. Genetic analysis of vestibular schwannoma tissue revealed loss of the ring chromosome 22 and a somatic second hit in the <it>NF2 </it>gene on the remaining chromosome 22.</p> <p>Conclusion</p> <p>We conclude that tumours can arise by the combination of loss of the ring chromosome and a pathogenic <it>NF2 </it>mutation on the remaining chromosome 22 in patients with ring chromosome 22. Our findings indicate that patients with a ring 22 should be monitored for NF2-related tumours starting in adolescence.</p

Student midwives' perceptions on the organisation of maternity care and alternative maternity care models in the Netherlands - a qualitative study

BACKGROUND: A major change in the organisation of maternity care in the Netherlands is under consideration, going from an echelon system where midwives provide primary care in the community and refer to obstetricians for secondary and tertiary care, to a more integrated maternity care system involving midwives and obstetricians at all care levels. Student midwives are the future maternity care providers and they may be entering into a changing maternity care system, so inclusion of their views in the discussion is relevant. This study aimed to explore student midwives' perceptions on the current organisation of maternity care and alternative maternity care models, including integrated care. METHODS: This qualitative study was based on the interpretivist/constructivist paradigm, using a grounded theory design. Interviews and focus groups with 18 female final year student midwives of the Midwifery Academy Amsterdam Groningen (AVAG) were held on the basis of a topic list, then later transcribed, coded and analysed. RESULTS: Students felt that inevitably there will be a change in the organisation of maternity care, and they were open to change. Participants indicated that good collaboration between professions, including a shared system of maternity notes and guidelines, and mutual trust and respect were important aspects of any alternative model. The students indicated that client-centered care and the safeguarding of the physiological, normalcy approach to pregnancy and birth should be maintained in any alternative model. Students expressed worries that the role of midwives in intrapartum care could become redundant, and thus they are motivated to take on new roles and competencies, so they can ensure their own role in intrapartum care. CONCLUSIONS: Final year student midwives recognise that change in the organisation of maternity care is inevitable and have an open attitude towards changes if they include good collaboration, client-centred care and safeguards for normal physiological birth. The graduating midwives are motivated to undertake an expanded intrapartum skill set. It can be important to involve students' views in the discussion, because they are the future maternity care providers. (aut. ref.

Effectiveness of Non-nucleoside Reverse-Transcriptase Inhibitor-Based Antiretroviral Therapy in Women Previously Exposed to a Single Intrapartum Dose of Nevirapine: A Multi-country, Prospective Cohort Study

In a comparative cohort study, Jeffrey Stringer and colleagues investigate the risk of ART failure in women who received single-dose nevirapine for PMTCT, and assess the duration of increased risk

'Issues of equity are also issues of rights': Lessons from experiences in Southern Africa

BACKGROUND: Human rights approaches to health have been criticized as antithetical to equity, principally because they are seen to prioritise rights of individuals at the expense of the interests of groups, a core tenet of public health. The objective of this study was to identify how human rights approaches can promote health equity. METHODS: The Network on Equity in Health in Southern Africa undertook an exploration of three regional case studies – antiretroviral access, patient rights charters and civic organization for health. A combination of archival reviews and stakeholder interviews were complemented with a literature review to provide a theoretical framework for the empirical evidence. RESULTS: Critical success factors for equity are the importance of rights approaches addressing the full spectrum from civil and political, through to socio-economic rights, as well as the need to locate rights in a group context. Human rights approaches succeed in achieving health equity when coupled with community engagement in ways that reinforce community capacity, particularly when strengthening the collective agency of its most vulnerable groups. Additionally, human rights approaches provide opportunities for mobilising resources outside the health sector, and must aim to address the public-private divide at local, national and international levels. CONCLUSION: Where it is clear that rights approaches are predicated upon understanding the need to prioritize vulnerable groups and where the way rights are operationalised recognizes the role of agency on the part of those most affected in realising their socio-economic rights, human rights approaches appear to offer powerful tools to support social justice and health equity

Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects

Rapid-eye movement (REM) sleep behavior disorder (RBD), enactment of dreams during REM sleep, is an early clinical symptom of alpha-synucleinopathies and defines a more severe subtype. The genetic background of RBD and its underlying mechanisms are not well understood. Here, we perform a genome-wide association study of RBD, identifying five RBD risk loci near SNCA, GBA, TMEM175, INPP5F, and SCARB2. Expression analyses highlight SNCA-AS1 and potentially SCARB2 differential expression in different brain regions in RBD, with SNCA-AS1 further supported by colocalization analyses. Polygenic risk score, pathway analysis, and genetic correlations provide further insights into RBD genetics, highlighting RBD as a unique alpha-synucleinopathy subpopulation that will allow future early intervention

Genome-wide association study of {REM} sleep behavior disorder identifies polygenic risk and brain expression effects

AbstractRapid-eye movement (REM) sleep behavior disorder (RBD), enactment of dreams during REM sleep, is an early clinical symptom of alpha-synucleinopathies and defines a more severe subtype. The genetic background of RBD and its underlying mechanisms are not well understood. Here, we perform a genome-wide association study of RBD, identifying five RBD risk loci near SNCA, GBA, TMEM175, INPP5F, and SCARB2. Expression analyses highlight SNCA-AS1 and potentially SCARB2 differential expression in different brain regions in RBD, with SNCA-AS1 further supported by colocalization analyses. Polygenic risk score, pathway analysis, and genetic correlations provide further insights into RBD genetics, highlighting RBD as a unique alpha-synucleinopathy subpopulation that will allow future early intervention

Erratum to: Methods for evaluating medical tests and biomarkers

[This corrects the article DOI: 10.1186/s41512-016-0001-y.]