Stigma and its implications for dementia in South Africa: a multi-stakeholder exploratory study

Stigma and discrimination in relation to dementia has a range of implications for people living with dementia and their families worldwide, including help-seeking, quality of life, social rejection and isolation. Few studies consider the perceptions and stigma towards dementia from multiple perspectives, such as people living with dementia, carers, general public and health-care workers. South Africa has limited evidence on the stigmatisation of people living with dementia, with responses to people living with dementia being driven by poor understanding of the condition, cultural beliefs about causes and social interaction problems associated with memory and cognitive impairment. This study explored the experiences of stigma among people living with dementia and their carers through understanding their own knowledge, attitudes and beliefs as well as those of the public and health-care workers. Qualitative data (N = 52) were collected across two provinces and in four languages (English, Afrikaans, Sesotho and isiZulu), with semi-structured interviews and focus groups with the following stakeholder groups: people living with dementia and their carers, the general public and health-care workers. Inductive thematic analysis generated themes across stakeholder groups. The study shows that people living with dementia and carers experienced high levels of internalised stigma, related to negative public attitudes, which were associated with high levels of isolation, health system unpreparedness and limited access to support. The study contributes to the evidence base needed in South Africa but also extends its relevance by contributing to a growing global evidence base on stigma and dementia in low- and middle-income contexts

Congenital myasthenic syndrome in Golden Retrievers is associated with a novel COLQ mutation.

BackgroundCongenital myasthenic syndromes (CMSs) are a group of inherited disorders of neuromuscular transmission that may be presynaptic, synaptic, or postsynaptic. Causative mutations have been identified in 4 breeds including the Labrador Retriever, Jack Russell Terrier, Heideterrier, and Danish Pointing Dog.Hypothesis/objectiveClinical and genetic characterization of a neuromuscular disorder in Golden Retriever (GR) puppies.AnimalsFour GR puppies from California were evaluated for generalized muscle weakness beginning at weaning. Biological specimens were collected from the affected puppies, and familial information was obtained. Blood or buccal swabs were obtained from 63 unaffected GRs.MethodsComplete physical, neurological, electrodiagnostic, and histological evaluations and biochemical quantification of muscle acetylcholine receptors were performed. Polymerase chain reaction was used to amplify the 17 exons of COLQ, and sequences were obtained by Sanger sequencing. Variant frequency was assessed in unrelated GRs and a public database.ResultsClinical, neurological, and electrodiagnostic evaluations confirmed a disorder of neuromuscular transmission in a GR family. Sequencing of all exons and splice sites of a primary candidate gene, COLQ, identified a point mutation that predicts an amino acid substitution (G294R). The primary COLQ transcript was absent from affected muscle samples. All affected puppies were homozygous for the mutation, which was not detected outside this GR family or in other breeds.Conclusions and clinical importanceWe confirmed the diagnosis of a CMS in GR puppies and identified a novel COLQ mutation. The COLQ gene encodes the collagenous tail of acetylcholinesterase, the enzyme responsible for termination of skeletal muscle contraction by clearing acetylcholine at the neuromuscular junction. Clinicians and breeders should be aware of this CMS in GR puppies with an early onset of weakness

Stigma and its implications for dementia in South Africa: a multi-stakeholder exploratory study

Stigma and discrimination in relation to dementia has a range of implications for people living with dementia and their families worldwide, including help-seeking, quality of life, social rejection and isolation. Few studies consider the perceptions and stigma towards dementia from multiple perspectives, such as people living with dementia, carers, general public and healthcare workers. South Africa has limited evidence on the stigmatisation of people living with dementia, with responses to people living with dementia being driven by poor understanding of the condition, cultural beliefs about causes, and social interaction problems associated with memory- and cognitive impairment. This study explored the experiences of stigma among people living with dementia and their carers through understanding their own knowledge, attitudes and beliefs as well as those of the public and healthcare workers. Qualitative data (n=52) were collected across two provinces and in four languages (English, Afrikaans, Sesotho and isiZulu), with semi-structured interviews and focus groups with the following stakeholder groups: people living with dementia and their carers, the general public, and healthcare workers. Inductive thematic analysis generated themes across stakeholder groups. The study shows that people living with dementia and carers experienced high levels of internalised stigma, related to negative public attitudes, which were associated with high levels of isolation, health system unpreparedness and limited access to support. The study contributes to the evidence-base needed in South Africa but also extends its relevance by contributing to a growing global evidence base on stigma and dementia in low-and middle-income contexts

Gesture production and comprehension in children with specific language impairment

Children with specific language impairment (SLI) have difficulties with spoken language. However, some recent research suggests that these impairments reflect underlying cognitive limitations. Studying gesture may inform us clinically and theoretically about the nature of the association between language and cognition. A total of 20 children with SLI and 19 typically developing (TD) peers were assessed on a novel measure of gesture production. Children were also assessed for sentence comprehension errors in a speech-gesture integration task. Children with SLI performed equally to peers on gesture production but performed less well when comprehending integrated speech and gesture. Error patterns revealed a significant group interaction: children with SLI made more gesture-based errors, whilst TD children made semantically based ones. Children with SLI accessed and produced lexically encoded gestures despite having impaired spoken vocabulary and this group also showed stronger associations between gesture and language than TD children. When SLI comprehension breaks down, gesture may be relied on over speech, whilst TD children have a preference for spoken cues. The findings suggest that for children with SLI, gesture scaffolds are still more related to language development than for TD peers who have out-grown earlier reliance on gestures. Future clinical implications may include standardized assessment of symbolic gesture and classroom based gesture support for clinical groups

Beyond the project: building a strategic theory of change to address dementia care, treatment and support gaps across seven middle-income countries

Evidence from middle-income countries indicates high and increasing prevalence of dementia and need for services. However, there has been little investment in care, treatment or support for people living with dementia and their carers. The Strengthening Responses to Dementia in Developing Countries (STRiDE) project aims to build both research capacity and evidence on dementia care and services in Brazil, Indonesia, India, Jamaica, Kenya, Mexico and South Africa. This article presents the Theory of Change (ToC) approach we used to co-design our research project and to develop a strategic direction for dementia care, treatment and support, with stakeholders. ToC makes explicit the process underlying how a programme will achieve its impact. We developed ToCs in each country and across the STRiDE project with researchers, practitioners, people living with dementia, carers and policymakers at different levels of government. This involved (1) an initial ToC workshop with all project partners (43 participants); (2) ToC workshops in each STRiDE country (22–49 participants in each); (3) comparison between country-specific and overall project ToCs; (4) review of ToCs in light of WHO dementia guidelines and action plan and (5) a final review. Our experiences suggest ToC is an effective way to generate a shared vision for dementia care, treatment and support among diverse stakeholders. However, the project contribution should be clearly delineated and use additional strategies to ensure appropriate participation from people living with dementia and their carers in the ToC process

Pathways: a culturally appropriate obesity-prevention program for American Indian schoolchildren

Pathways, a culturally appropriate obesity prevention study for third-, fourth-, and fifth-grade American Indian schoolchildren includes an intervention that promotes increased physical activity and healthful eating behaviors. The Pathways intervention, developed through a collaboration of universities and American Indian nations, schools, and families, focuses on individual, behavioral, and environmental factors and merges constructs from social learning theory with American Indian customs and practices. We describe the Pathways program developed during 3 y of feasibility testing in American Indian schools, with special emphasis on the activities developed for the third grade; review the theoretical and cultural underpinnings of the program; outline the construction process of the intervention; detail the curriculum and physical education components of the intervention; and summarize the formative assessment and the school food service and family components of the intervention

Zinc-Regulated DNA Binding of the Yeast Zap1 Zinc-Responsive Activator

The Zap1 transcription factor of Saccharomyces cerevisiae plays a central role in zinc homeostasis by controlling the expression of genes involved in zinc metabolism. Zap1 is active in zinc-limited cells and repressed in replete cells. At the transcriptional level, Zap1 controls its own expression via positive autoregulation. In addition, Zap1's two activation domains are regulated independently of each other by zinc binding directly to those regions and repressing activation function. In this report, we show that Zap1 DNA binding is also inhibited by zinc. DMS footprinting showed that Zap1 target gene promoter occupancy is regulated with or without transcriptional autoregulation. These results were confirmed using chromatin immunoprecipitation. Zinc regulation of DNA binding activity mapped to the DNA binding domain indicating other parts of Zap1 are unnecessary for this control. Overexpression of Zap1 overrode DNA binding regulation and resulted in constitutive promoter occupancy. Under these conditions of constitutive binding, both the zinc dose response of Zap1 activity and cellular zinc accumulation were altered suggesting the importance of DNA binding control to zinc homeostasis. Thus, our results indicated that zinc regulates Zap1 activity post-translationally via three independent mechanisms, all of which contribute to the overall zinc responsiveness of Zap1

Selecting a BRCA risk assessment model for use in a familial cancer clinic

<p>Abstract</p> <p>Background</p> <p>Risk models are used to calculate the likelihood of carrying a <it>BRCA1 </it>or <it>BRCA2 </it>mutation. We evaluated the performances of currently-used risk models among patients from a large familial program using the criteria of high sensitivity, simple data collection and entry and <it>BRCA </it>score reporting.</p> <p>Methods</p> <p>Risk calculations were performed by applying the BRCAPRO, Manchester, Penn II, Myriad II, FHAT, IBIS and BOADICEA models to 200 non-<it>BRCA </it>carriers and 100 <it>BRCA </it>carriers, consecutively tested between August 1995 and March 2006. Areas under the receiver operating characteristic curves (AUCs) were determined and sensitivity and specificity were calculated at the conventional testing thresholds. In addition, subset analyses were performed for low and high risk probands.</p> <p>Results</p> <p>The BRCAPRO, Penn II, Myriad II, FHAT and BOADICEA models all have similar AUCs of approximately 0.75 for <it>BRCA </it>status. The Manchester and IBIS models have lower AUCs (0. and 0.47 respectively). At the conventional testing thresholds, the sensitivities and specificities for a <it>BRCA </it>mutation were, respectively, as follows: BRCAPRO (0.75, 0.62), Manchester (0.58,0.71), Penn II (0.93,0.31), Myriad II (0.71,0.63), FHAT (0.70,0.63), IBIS (0.20,0.74), BOADICEA (0.70, 0.65).</p> <p>Conclusion</p> <p>The Penn II model most closely met the criteria we established and this supports the use of this model for identifying individuals appropriate for genetic testing at our facility. These data are applicable to other familial clinics provided that variations in sample populations are taken into consideration.</p

Dissolving the dichotomies between online and campus‑based teaching: a collective response to The Manifesto for teaching online

This article is a collective response to the 2020 iteration of The Manifesto for Teach-ing Online. Originally published in 2011 as 20 simple but provocative statements, the aim was, and continues to be, to critically challenge the normalization of education as techno-corporate enterprise and the failure to properly account for digital methods in teaching in Higher Education. The 2020 Manifesto continues in the same critically pro-vocative fashion, and, as the response collected here demonstrates, its publication could not be timelier. Though the Manifesto was written before the Covid-19 pandemic, many of the responses gathered here inevitably reflect on the experiences of moving to digi-tal, distant, online teaching under unprecedented conditions. As these contributions reveal, the challenges were many and varied, ranging from the positive, breakthrough opportunities that digital learning offered to many students, including the disabled, to the problematic, such as poor digital networks and access, and simple digital poverty. Regardless of the nature of each response, taken together, what they show is that The Manifesto for Teaching Online offers welcome insights into and practical advice on how to teach online, and creatively confront the supremacy of face-to-face teaching

A Clinical Trial of the Effects of Dietary Patterns on Blood Pressure

BACKGROUND: It is known that obesity, sodium intake, and alcohol consumption factors influence blood pressure. In this clinical trial, Dietary Approaches to Stop Hypertension, we assessed the effects of dietary patterns on blood pressure. METHODS: We enrolled 459 adults with systolic blood pressures of less than 160 mm Hg and diastolic blood pressures of 80 to 95 mm Hg. For three weeks, the subjects were fed a control diet that was low in fruits, vegetables, and dairy products, with a fat content typical of the average diet in the United States. They were then randomly assigned to receive for eight weeks the control diet, a diet rich in fruits and vegetables, or a "combination" diet rich in fruits, vegetables, and low-fat dairy products and with reduced saturated and total fat. Sodium intake and body weight were maintained at constant levels. RESULTS: At base line, the mean (+/-SD) systolic and diastolic blood pressures were 131.3+/-10.8 mm Hg and 84.7+/-4.7 mm Hg, respectively. The combination diet reduced systolic and diastolic blood pressure by 5.5 and 3.0 mm Hg more, respectively, than the control diet (P or =140 mm Hg; diastolic pressure, > or =90 mm Hg; or both), the combination diet reduced systolic and diastolic blood pressure by 11.4 and 5.5 mm Hg more, respectively, than the control diet (P<0.001 for each); among the 326 subjects without hypertension, the corresponding reductions were 3.5 mm Hg (P<0.001) and 2.1 mm Hg (P=0.003). CONCLUSIONS: A diet rich in fruits, vegetables, and low-fat dairy foods and with reduced saturated and total fat can substantially lower blood pressure. This diet offers an additional nutritional approach to preventing and treating hypertension