Mental health support across the sight loss pathway: a qualitative exploration of eye care patients, optometrists, and ECLOs.

BACKGROUND: The process of becoming visually impaired or blind is undoubtedly a highly emotional experience, requiring practical and psychological support. Information on mental health support provision in the UK across the sight-loss pathway, however, is largely unknown, especially amongst healthcare practitioners that are often sought after for advice: the referring optometrist and eye clinic liaison officer (ECLO). This study aims to ascertain the perceived accessibility and quality of mental health support across the sight-loss pathway. METHODS: Semi-structured individual interviews were conducted with patients with a diagnosed eye condition who had received care from a hospital eye service, referring optometrists, and ECLOs. Following interview transcription, results were synthesised in a narrative analysis. RESULTS: A total of 28 participants were included in the analysis, of which 17 were participants with various eye conditions, five were referring optometrists, and five were ECLOs. After analysis, three broad themes emerged: (1) The emotional trauma of diagnosis (2) Availability of mental health support; (3) The point where mental health support is most needed across the sight-loss pathway. Several patients reporting that they had received no offer of support nor were they signposted to any possible sources. Referring optometrists and ECLO's agreed. CONCLUSION: It is important that referring optometrists are aware of the need for mental health support services and can signpost to local support services including the third sector anytime during the referral process. Future large-scale, UK-wide research into referral practice and signposting for mental health support for patients is warranted, to identify how services can be improved in order to ensure that the wellbeing of patients is maintained.

Using vignettes about racism from health practice in Aotearoa to generate anti-racism interventions.

Racism is a key modifiable determinant of health that contributes to health inequities in Aotearoa and elsewhere. Experiences of racism occur within the health sector for workers, patients and their whanau (extended family) every day. This paper uses stories of racism from nurses - reworked into vignettes - to examine the dynamics of racism to generate possible micro, meso and macro anti-racism interventions. A critical qualitative design was utilised, informed by kaupapa Maori approaches. The five vignettes in this paper were sourced from a pair of caucused focus groups with nine senior Maori (Indigenous peoples of Aotearoa) and Tauiwi (non-Maori) nurses held in Auckland Aotearoa in 2019. The vignettes were lightly edited and then critically analysed by both authors to identify sites of racism and generate ideas for anti-racism interventions. The vignettes illustrate five key themes in relation to racism. These include (i) mono-cultural practice, (ii) everyday micro-aggressions; (iii) complexity and the costs of racism, (iv) Pakeha (white settler) privilege and (v) employment discrimination. From analysing these themes, a range of evidence-based micro, meso and macro-level anti-racism interventions were derived. These ranged from engaging in reflective practice, education initiatives, monitoring, through to collective advocacy. Vignettes are a novel way to reveal sites of racism to create teachable moments and spark reflective practice and more active engagement in anti-racism interventions. When systematically analysed vignettes can be utilised to inform and refine anti-racist interventions. Being able to identify racism is essential to being able to effectively counter racism.

Episodes of particle ejection from the surface of the active asteroid (101955) Bennu.

Active asteroids are those that show evidence of ongoing mass loss. We report repeated instances of particle ejection from the surface of (101955) Bennu, demonstrating that it is an active asteroid. The ejection events were imaged by the OSIRIS-REx (Origins, Spectral Interpretation, Resource Identification, and Security-Regolith Explorer) spacecraft. For the three largest observed events, we estimated the ejected particle velocities and sizes, event times, source regions, and energies. We also determined the trajectories and photometric properties of several gravitationally bound particles that orbited temporarily in the Bennu environment. We consider multiple hypotheses for the mechanisms that lead to particle ejection for the largest events, including rotational disruption, electrostatic lofting, ice sublimation, phyllosilicate dehydration, meteoroid impacts, thermal stress fracturing, and secondary impacts.

Production and economic responses to intensification of pasture-based dairy production systems.

Production from pasture-based dairy farms can be increased through using N fertilizer to increase pasture grown, increasing stocking rate, importing feeds from off farm (i.e., supplementary feeds, such as cereal silages, grains, or co-product feeds), or through a combination of these strategies. Increased production can improve profitability, provided the marginal cost of the additional milk produced is less than the milk price received. A multiyear production system experiment was established to investigate the biological and economic responses to intensification on pasture-based dairy farms; 7 experimental farmlets were established and managed independently for 3 yr. Paddocks and cows were randomly allocated to farmlet, such that 3 farmlets had stocking rates of 3.35 cows/ha (LSR) and 4 farmlets had stocking rates of 4.41 cows/ha (HSR). Of the LSR farmlets, 1 treatment received no N fertilizer, whereas the other 2 received either 200 or 400 kg of N/ha per year (200N and 400N, respectively). No feed was imported from off-farm for the LSR farmlets. Of the 4 HSR farmlets, 3 treatments received 200N and the fourth treatment received 400N; cows on 2 of the HSR-200N farmlet treatments also received 1.3 or 1.1 t of DM/cow per year of either cracked corn grain or corn silage, respectively. Data were analyzed for consistency of farmlet response over years using mixed models, with year and farmlet as fixed effects and the interaction of farmlet with year as a random effect. The biological data and financial data extracted from a national economic database were used to model the statement of financial performance for the farmlets and determine the economic implications of increasing milk production/cow and per ha (i.e., farm intensification). Applying 200N or 400N increased pasture grown per hectare and milk production per cow and per hectare, whereas increasing stocking rate did not affect pasture grown or milk production per hectare, but reduced milk production per cow. Importing feed in the HSR farmlets increased milk production per cow and per hectare. Marginal milk production responses to additional feed (i.e., either pasture or imported supplementary feed) were between 0.8 and 1.2 kg of milk/kg of DM offered (73 to 97 g of fat and protein/kg of feed DM) and marginal response differences between feeds were explained by metabolizable energy content differences (0.08 kg of milk/MJ of metabolizable energy offered). The marginal milk production response to additional feed was quadratic, with the greatest milk production generated from the initial investment in feed; 119, 99, and 55 g of fat and protein were produced per kilogram of feed DM by reducing the annual feed deficit from 1.6 to 1.0, 1.0 to 0.5, and 0.5 to 0 t of DM, respectively. Economic modeling indicated that the marginal cost of milk produced from pasture resulting from applied N fertilizer was less than the milk price; therefore, strategic use of N fertilizer to increase pasture grown increased farm operating profit per hectare. In comparison, operating profit declined with purchased feed, despite high marginal milk production responses. The results have implications for the strategic direction of grazing dairy farms, particularly in export-oriented industries, where the prices of milk and feed inputs are subject to the considerable volatility of commodity markets.

The development of a prototype measure of the co-production of health in routine consultations for people with long-term conditions.

OBJECTIVES: (i) To develop a prototype measure of co-production of health (CPH) in consultations for people with long-term conditions (LTCs); and (ii) to undertake initial validation of it, using a measure of patient-centred care, as defined by the Roter interaction analysis system (RIAS). METHODS: Mixed methods were applied. A qualitative study gathered 11 experts' views on what comprised CPH behaviours. These were operationalised and a prototype measure applied to a convenience sample of 50 video-recorded consultations involving clinicians trained in self-management support and patients with LTCs at health services in six UK locations. RESULTS: Twenty-two CPH behaviours were identified. High frequencies of CPH behaviours in consultations were associated with greater patient-centeredness, less clinician verbal dominance, and more patient communication control in comparison to consultations where CPH behaviours were less frequent. CONCLUSION: Although the CPH tool is promising, further testing is required in order to improve reliability and validity. PRACTICAL IMPLICATIONS: In the future, the measure could be used to test interventions to promote patient participation in decision making about self-management.

Development of an ELISA to detect circulating anti-asparaginase antibodies in dogs with lymphoid neoplasia treated with Escherichia coli l-asparaginase.

Resistance to Escherichia coli l-asparaginase in canine lymphoma occurs frequently with repeated administration, a phenomenon often attributed, without substantiation, to the induction of neutralizing antibodies. To test the hypothesis that treated dogs develop antibodies against the drug, we created an enzyme-linked immunosorbent assay (ELISA) to measure plasma anti-asparaginase immunoglobulin G responses. Using samples from dogs that had received multiple doses, specific reactivity against l-asparaginase was demonstrated, while naïve patients' samples were negative. The optimized ELISA appeared sensitive, with endpoint titers >1 600 000 in positive control dogs. Intra- and inter-assay coefficients of variation were 3.6 and 14.5%. The assay was supported by the observation that ELISA-positive plasma could immunoprecipitate asparaginase activity. When clinical patients were evaluated, 3/10 dogs developed titers after a single injection; with repeated administration, 4/7 dogs were positive. l-asparaginase antibodies showed reduced binding to the PEGylated drug formulation. The ELISA should prove useful in investigating the potential correlation of antibody responses with resistance.

Investigating the influence of African American and African Caribbean race on primary care doctors' decision making about depression.

This paper explores differences in how primary care doctors process the clinical presentation of depression by African American and African-Caribbean patients compared with white patients in the US and the UK. The aim is to gain a better understanding of possible pathways by which racial disparities arise in depression care. One hundred and eight doctors described their thought processes after viewing video recorded simulated patients presenting with identical symptoms strongly suggestive of depression. These descriptions were analysed using the CliniClass system, which captures information about micro-components of clinical decision making and permits a systematic, structured and detailed analysis of how doctors arrive at diagnostic, intervention and management decisions. Video recordings of actors portraying black (both African American and African-Caribbean) and white (both White American and White British) male and female patients (aged 55 years and 75 years) were presented to doctors randomly selected from the Massachusetts Medical Society list and from Surrey/South West London and West Midlands National Health Service lists, stratified by country (US v.UK), gender, and years of clinical experience (less v. very experienced). Findings demonstrated little evidence of bias affecting doctors' decision making processes, with the exception of less attention being paid to the potential outcomes associated with different treatment options for African American compared with White American patients in the US. Instead, findings suggest greater clinical uncertainty in diagnosing depression amongst black compared with white patients, particularly in the UK. This was evident in more potential diagnoses. There was also a tendency for doctors in both countries to focus more on black patients' physical rather than psychological symptoms and to identify endocrine problems, most often diabetes, as a presenting complaint for them. This suggests that doctors in both countries have a less well developed mental model of depression for black compared with white patients.

Genome-wide association study of Tourette's syndrome.

Tourette's syndrome (TS) is a developmental disorder that has one of the highest familial recurrence rates among neuropsychiatric diseases with complex inheritance. However, the identification of definitive TS susceptibility genes remains elusive. Here, we report the first genome-wide association study (GWAS) of TS in 1285 cases and 4964 ancestry-matched controls of European ancestry, including two European-derived population isolates, Ashkenazi Jews from North America and Israel and French Canadians from Quebec, Canada. In a primary meta-analysis of GWAS data from these European ancestry samples, no markers achieved a genome-wide threshold of significance (P<5 × 10(-8)); the top signal was found in rs7868992 on chromosome 9q32 within COL27A1 (P=1.85 × 10(-6)). A secondary analysis including an additional 211 cases and 285 controls from two closely related Latin American population isolates from the Central Valley of Costa Rica and Antioquia, Colombia also identified rs7868992 as the top signal (P=3.6 × 10(-7) for the combined sample of 1496 cases and 5249 controls following imputation with 1000 Genomes data). This study lays the groundwork for the eventual identification of common TS susceptibility variants in larger cohorts and helps to provide a more complete understanding of the full genetic architecture of this disorder.

Alternative medicines for the geriatric veterinary patient.

Over the past several decades, alternative medicines have gained in popularity for use in both humans and animals. While they are not without controversy, client interest and usage dictate that even those practitioners who do not want to practice any of them in their own hospital or clinic should at least be aware of their common use, safety, and efficacy. The author briefly discusses some of the more popular alternative medicines­acupuncture, chiropractic, herbal, homeopathic, and flower essences­with respect to some of the basics that every practitioner should know about them.

Childsmile: the national child oral health improvement programme in Scotland. Part 2: Monitoring and delivery.

This paper, the second of two reviewing the Childsmile programme, describes monitoring arrangements and summarises monitoring data covering the period 2006-2009. By mid-2009, around 28,000 infants in deprived areas of the West of Scotland had been given caries risk assessments by Health Visitors; 14,000 were enrolled with 142 Childsmile practices or clinics; and over 10,000 had begun making practice visits. The Childsmile Nursery and School programmes had provided 28,000 fluoride varnish treatments to nursery and primary school children. Daily supervised toothbrushing and distribution of oral health packs covered almost 100% of nursery schools and P1 and P2 classes in primary schools in the most deprived areas of Scotland. Feedback of monitoring information to programme managers is used to identify any variation or shortfall in programme coverage and delivery.

Child involvement in the paediatric consultation: a qualitative study of children and carers' views.

BACKGROUND: This study aimed to investigate child and carers' attitudes towards child involvement in paediatric consultations. METHODS: Semi-structured qualitative interviews explored child and carers' attitudes towards child involvement at different stages of the paediatric consultation process. Twenty families (21 children, 17 mothers and 5 fathers) were interviewed following a paediatric (index) consultation in two UK paediatric inpatient and outpatient departments. RESULTS: All but one family felt the child should be involved at some stage of the consultation process but the desired extent and nature of involvement depended on child, family and illness characteristics, as well as on the stages of the consultation. During history gathering, some parents and children felt it was the decision and responsibility of the parent to facilitate communication between the child and the doctor. Others expected the doctor to decide when and how to facilitate this process. At diagnosis the desired amount of information given to the child increased with increasing maturity in the child. Some felt making a diagnosis should be a collaborative process; others felt it was solely the domain of the doctor. In discussing and making a treatment plan, some children wanted to be given the choice of being involved and some wanted their parents to be responsible for implementing the plan. Some families with a seriously ill child, however, wanted the burden of involvement in the management plan taken away from them. CONCLUSIONS: Families vary in their views about involvement of children in paediatric consultations in a way that may be unique to each child, family and illness. Moreover, different views were expressed about involvement in each stage of the consultative process and in management of the child's health. The challenge for doctors is to determine the level of involvement and information exchange favoured by a particular parent and child. Good practice recommendations emerging from the analysis are described.

Application of an expanded multiplex genotyping assay for the simultaneous detection of Hemoglobin Constant Spring and common deletional alpha-thalassemia mutations.

Hemoglobin Constant Spring (HbCS) is the most common nondeletional alpha-thalassemia variant causing HbH disease, making its detection crucial in populations at risk. Universal newborn screening for HbH is carried out in California. Identification of alpha-thalassemia genotypes responsible for HbH and HbH-CS requires rapid, accurate and cost-effective genotyping methods suitable for population screening. We incorporated the HbCS mutation into our existing seven-plex genotyping assay for common alpha-thalassemia deletions. To assess the feasibility and diagnostic utility of this expanded multiplex gap-PCR assay, we determined genotypic frequencies of HbCS in samples referred for alpha-thalassemia testing between 1 January 2006 and 31 December 2008. During the 3-year study period, 1436 samples were genotyped for alpha-thalassemia. HbH-CS accounted for 23 (13%) of the 176 cases of HbH disease identified. In a subset of 145 newborns referred by the California NBS program with an elevated Hb Bart's level at birth, HbH disease was confirmed in 134 (93%) and HbH-CS identified in 13 (10%) of these. This expanded genotyping assay has proven to be a rapid, reliable and clinically useful diagnostic tool for the detection of HbH-CS disease.

Hemoglobin Hakkari: an autosomal dominant form of beta thalassemia with inclusion bodies arising from de novo mutation in exon 2 of beta globin gene.

Certain beta globin gene mutations produce a thalassemia major phenotype in the heterozygous state. While most such patients have thalassemia intermedia, we describe a young Guatemalan child with a de novo mutation in the beta globin gene, codon 31 T --> G (Hemoglobin Hakkari), who developed severe anemia at the age of 10 months and remains transfusion-dependent. The substitution of B13 leucine with arginine in the beta globin results in alteration of a critical heme contact point resulting in an extremely unstable variant hemoglobin and a clinical picture that is characterized by ineffective erythropoiesis and numerous intracytoplasmic inclusions within the erythrocyte precursors of the bone marrow. .

The complex global pattern of genetic variation and linkage disequilibrium at catechol-O-methyltransferase.

Genetic variation at the catechol-O-methyltransferase (COMT) gene has been significantly associated with risk for various neuropsychiatric conditions such as schizophrenia, panic disorder, bipolar disorders, anorexia nervosa and others. It has also been associated with nicotine dependence, sensitivity to pain and cognitive dysfunctions especially in schizophrenia. The non-synonymous single nucleotide polymorphism (SNP) in exon 4--Val108/158Met--is the most studied SNP at COMT and is the basis for most associations. It is not, however, the only variation in the gene; several haplotypes exist across the gene. Some studies indicate that the haplotypic combinations of alleles at the Val108/158Met SNP with those in the promoter region and in the 3'-untranslated region are responsible for the associations with disorders and not the non-synonymous SNP by itself. We have now studied DNA samples from 45 populations for 63 SNPs in a region of 172 kb across the region of 22q11.2 encompassing the COMT gene. We focused on 28 SNPs spanning the COMT-coding region and immediately flanking DNA, and found that the haplotypes are from diverse evolutionary lineages that could harbor as yet undetected variants with functional consequences. Future association studies should be based on SNPs that define the common haplotypes in the population(s) being studied.

A necropsy-based descriptive study of dairy cow deaths on a Colorado dairy.

Increasing levels of dairy cow mortality pose a challenge to the US dairy industry. The industry's current understanding of dairy cow mortality is reliant upon descriptions largely based on producer or veterinary assumptions regarding cause of death without the benefit of detailed postmortem evaluations. A thorough necropsy is a superior tool for establishing a cause of death, except for cases involving euthanasia for traumatic accidents or severe locomotor disorders. Information provided from a necropsy examination would be most valuable if it were categorized and combined with cow health information in a complete postmortem evaluation designed to guide future management decisions. The objective of this study was to describe dairy cow deaths on a Colorado dairy over a 1-yr period and explore classification systems for necropsy findings that might inform management actions aimed at reducing dairy cow mortality. Throughout the study period a thorough necropsy examination was performed on every cow that died. Based upon this examination each death was characterized by a proximate cause (i.e., the most likely immediate cause of the death). Each proximate cause of death was then categorized using 3 alternate schemes founded on generalized etiologic principles and influenced by previous clinical history and treatments. These schemes included the broad categories commonly used for classifying findings within a review of literature related to dairy cow mortality, a diagnostic scheme used within the problem-oriented veterinary medical record, and an analysis focusing on the primary physiologic system derangement for each death. A total of 2,067 cows were enrolled during the study period of which 1,468 cows freshened, 507 cows were sold, and 94 cows died, resulting in a mortality risk of 6.4 deaths per 100 lactations at risk. The distribution of deaths by parity was significantly different from the herd distribution at the end of study with the largest percentage of death present in parity > or =4. Postmortem findings attributable to a specific cause of death were present for all but 4 of the 94 deaths. Assignment of the proximate causes of death to categories within the 3 alternate schemes provided a means for classifying necropsy findings and causes of death with different levels of detail. Creating categories with more selective groupings may provide a means for capturing specifics related to deaths that can be used to guide management decisions.

Global patterns of variation in allele and haplotype frequencies and linkage disequilibrium across the CYP2E1 gene.

Cytochrome P450 2E1, gene symbol CYP2E1, is one of a family of enzymes with a central role in activating and detoxifying xenobiotics and endogenous compounds. Genetic variation at this gene has been reported in different human populations, and some association studies have reported increased risk for cancers and other diseases. To the best of our knowledge, multi-single-nucleotide polymorphism haplotypes and linkage disequilibrium (LD) have not been systematically studied for CYP2E1 in multiple populations. Haplotypes can greatly increase the power both to identify patterns of genetic variation relevant for gene expression as well as to detect disease-related susceptibility mutations. We present frequency and LD data and analyses for 11 polymorphisms and their haplotypes that we have studied on over 2600 individuals from 50 human population samples representing the major geographical regions of the world. The diverse patterns of haplotype variation found in the different populations we have studied show that ethnicity may be an important variable helping to explain inconsistencies that have been reported by association studies. More studies clearly are needed of the variants we have studied, especially those in the 5' region, such as the variable number of tandem repeats, as well as studies of additional polymorphisms known for this gene to establish evidence relating any systematic differences in gene expression that exist to the haplotypes at this gene.

Human copy number polymorphic genes.

Recent large-scale genomic studies within human populations have identified numerous genomic regions as copy number variant (CNV). As these CNV regions often overlap coding regions of the genome, large lists of potentially copy number polymorphic genes have been produced that are candidates for disease association. Most of the current data regarding normal genic variation, however, has been generated using BAC or SNP microarrays, which lack precision especially with respect to exons. To address this, we assessed 2,790 candidate CNV genes defined from available studies in nine well-characterized HapMap individuals by designing a customized oligonucleotide microarray targeted specifically to exons. Using exon array comparative genomic hybridization (aCGH), we detected 255 (9%) of the candidates as true CNVs including 134 with evidence of variation over the entire gene. Individuals differed in copy number from the control by an average of 100 gene loci. Both partial- and whole-gene CNVs were strongly associated with segmental duplications (55 and 71%, respectively) as well as regions of positive selection. We confirmed 37% of the whole-gene CNVs using the fosmid end sequence pair (ESP) structural variation map for these same individuals. If we modify the end sequence pair mapping strategy to include low-sequence identity ESPs (98-99.5%) and ESPs with an everted orientation, we can capture 82% of the missed genes leading to more complete ascertainment of structural variation within duplicated genes. Our results indicate that segmental duplications are the source of the majority of full-length copy number polymorphic genes, most of the variant genes are organized as tandem duplications, and a significant fraction of these genes will represent paralogs with levels of sequence diversity beyond thresholds of allelic variation. In addition, these data provide a targeted set of CNV genes enriched for regions likely to be associated with human phenotypic differences due to copy number changes and present a source of copy number responsive oligonucleotide probes for future association studies.

Use of matrix metalloproteinases 2 and 9 and white blood cell counts in monitoring the treatment and predicting the survival of horses with septic arthritis.

Thirty-nine samples of synovial fluid were collected from the joints of 32 horses with suspected septic arthritis and 39 samples were collected from horses euthanased for non-orthopaedic conditions. The white blood cell counts (WBCC) were determined and the pro and active forms of matrix metalloproteinases (MMPs) 2 and 9 were measured by gelatin zymography and image analysis in each sample. The initial measurements of the ratio of proMMP9:proMMp2 and WBCC were good prognostic indicators of the survival of the horses. There was no significant relationship between the interval between the injury and the horse being referred for treatment and either the WBCC or the levels of MMP2 and MMP9 initially, and no evidence that this interval significantly affected the chances of the horses surviving.