30 research outputs found
Other mothers: beyond the maternal ideal
(print) vii, 348 p. : ill. ; 24 cmIllustrations p. vii -- Introduction p. 1 -- Part I. Beyond the Maternal Ideal p. 25 -- Part II. "Bad Mothers" : Caretaking, Class, and Maternal Violence p. 101 -- Part III. Maternity and Difference : Nation, Race, and Empire p. 181 -- Part IV. The Maternal Body p. 271 -- Contributors 335 -- Index 339Item embargoed for five year
The common ABCA4 variant p.Asn1868ile shows nonpenetrance and variable expression of stargardt disease when present in trans with severe variants
PURPOSE. To assess the occurrence and the disease expression of the common p.Asn1868Ile variant in patients with Stargardt disease (STGD1) harboring known, monoallelic causal ABCA4 variants. METHODS. The coding and noncoding regions of ABCA4 were sequenced in 67 and 63 STGD1 probands respectively, harboring monoallelic ABCA4 variants. In case p.Asn1868Ile was detected, segregation analysis was performed whenever possible. Probands and affected siblings harboring p.Asn1868Ile without additional variants in cis were clinically evaluated retrospe
PLoS One
Age-related macular degeneration (AMD) is a common, progressive multifactorial vision-threatening disease and many genetic and environmental risk factors have been identified. The risk of AMD is influenced by lifestyle and diet, which may be reflected by an altered metabolic profile. Therefore, measurements of metabolites could identify biomarkers for AMD, and could aid in identifying high-risk individuals. Hypothesis-free technologies such as metabolomics have a great potential to uncover biomarkers or pathways that contribute to disease pathophysiology. To date, only a limited number of metabolomic studies have been performed in AMD. Here, we aim to contribute to the discovery of novel biomarkers and metabolic pathways for AMD using a targeted metabolomics approach of 188 metabolites. This study focuses on non-advanced AMD, since there is a need for biomarkers for the early stages of disease before severe visual loss has occurred. Targeted metabolomics was performed in 72 patients with early or intermediate AMD and 72 control individuals, and metabolites predictive for AMD were identified by a sparse partial least squares discriminant analysis. In our cohort, we identified four metabolite variables that were most predictive for early and intermediate stages of AMD. Increased glutamine and phosphatidylcholine diacyl C28:1 levels were detected in non-advanced AMD cases compared to controls, while the rate of glutaminolysis and the glutamine to glutamate ratio were reduced in non-advanced AMD. The association of glutamine with non-advanced AMD corroborates a recent report demonstrating an elevated glutamine level in early AMD using a different metabolomics technique. In conclusion, this study indicates that metabolomics is a suitable method for the discovery of biomarker candidates for AMD. In the future, larger metabolomics studies could add to the discovery of novel biomarkers in yet unknown AMD pathways and expand our insights in AMD pathophysiology
Ophthalmology
OBJECTIVE: In the current study we aimed to identify metabolites associated with age-related macular degeneration (AMD) by performing the largest metabolome association analysis in AMD to date. In addition, we aimed to determine the effect of AMD-associated genetic variants on metabolite levels, and aimed to investigate associations between the identified metabolites and activity of the complement system, one of the main AMD-associated disease pathways. DESIGN: Case-control assocation analysis of metabolomics data. SUBJECTS: 2,267 AMD cases and 4,266 controls from five European cohorts. METHODS: Metabolomics was performed using a high-throughput H-NMR metabolomics platform, which allows the quantification of 146 metabolite measurements and 79 derivative values. Metabolome-AMD associations were studied using univariate logistic regression analyses. The effect of 52 AMD-associated genetic variants on the identified metabolites was investigated using linear regression. In addition, associations between the identified metabolites and activity of the complement pathway (defined by the C3d/C3 ratio) were investigated using linear regression. MAIN OUTCOME MEASURES: Metabolites associated with AMD RESULTS: We identified 60 metabolites that were significantly associated with AMD, including increased levels of large and extra-large HDL subclasses and decreased levels of VLDL, amino acids and citrate. Out of 52 AMD-associated genetic variants, seven variants were significantly associated with 34 of the identified metabolites. The strongest associations were identified for genetic variants located in or near genes involved in lipid metabolism (ABCA1, CETP, APOE, LIPC) with metabolites belonging to the large and extra-large HDL subclasses. In addition, 57 out of 60 metabolites were significantly associated with complement activation levels, and these associations were independent of AMD status. Increased large and extra-large HDL levels and decreased VLDL and amino acid levels were associated with increased complement activation. CONCLUSIONS: Lipoprotein levels were associated with AMD-associated genetic variants, while decreased essential amino acids may point to nutritional deficiencies in AMD. We observed strong associations between the vast majority of the AMD-associated metabolites and systemic complement activation levels, independent of AMD status. This may indicate biological interactions between the main AMD disease pathways, and suggests that multiple pathways may need to be targeted simultaneously for successful treatment of AMD
Prevalence of Age-Related Macular Degeneration in Europe: The Past and the Future
Purpose Age-related macular degeneration (AMD) is a frequent, complex disorder in elderly of European ancestry. Risk profiles and treatment options have changed considerably over the years, which may have affected disease prevalence and outcome. We determined the prevalence of early and late AMD in Europe from 1990 to 2013 using the European Eye Epidemiology (E3) consortium, and made projections for the future. Design Meta-analysis of prevalence data. Participants A total of 42 080 individuals 40 years of age and older participating in 14 population-based cohorts from 10 countries in Europe. Methods AMD was diagnosed based on fundus photographs using the Rotterdam Classification. Prevalence of early and late AMD was calculated using random-effects meta-analysis stratified for age, birth cohort, gender, geographic region, and time period of the study. Best-corrected visual acuity (BCVA) was compared between late AMD subtypes; geographic atrophy (GA) and choroidal neovascularization (CNV). Main Outcome Measures Prevalence of early and late AMD, BCVA, and number of AMD cases. Results Prevalence of early AMD increased from 3.5% (95% confidence interval [CI] 2.1%–5.0%) in those aged 55–59 years to 17.6% (95%
Attitudes des étudiants universitaires en psychologie du counseling à l’égard de la formation interprofessionnelle au Canada
Students (N = 77) from 3 counselling psychology graduate programs in Canada completed an online questionnaire to assess their attitudes towards interprofessional education (IPE). Data were gathered on students’ demographic characteristics, readiness for IPE, and perceptions about teamwork in healthcare. Most participants were female, aged 23–35 years, and were enrolled in a masters-level program with no previous interprofessional work experience. Participants’ readiness for IPE and professional stereotype scores were comparable to, if not greater than, scores reported by students in different healthcare disciplines in other studies. Thematic analysis revealed 4 key messages that counselling psychology students learned about interprofessional practice from their graduate programs: (a) there are limited IPE training opportunities for counselling psychology graduate students, (b) teamwork enhances patient care, (c) teamwork may threaten client confidentiality, and (d) the public and other healthcare professions undervalue psychologists in healthcare settings. Implications for the educational and professional development of counselling psychology in Canada are discussed.Des étudiants (N = 77) inscrits à 3 programmes universitaires en psychologie du counseling au Canada ont répondu à un questionnaire en ligne conçu pour évaluer leurs attitudes à l’égard de la formation interprofessionnelle (FI). Des données furent recueillies sur les caractéristiques démographiques des étudiants, sur leur degré de préparation à la FI et sur leurs perceptions au sujet des soins de santé prodigués en équipe. La plupart des répondants étaient des femmes, âgées de 23 à 35 ans, et inscrites à un programme de niveau maîtrise sans expérience antérieure du travail interprofessionnel. Les scores des participants en ce qui concerne la préparation à la FI et les stéréotypes professionnels étaient comparables, sinon supérieurs, aux scores obtenus par des étudiants d’autres disciplines de soins de santé inscrits dans d’autres types d’études. L’analyse thématique révéla 4 messages clés que les étudiants en psychologie du counseling avaient appris au sujet de la pratique interprofessionnelle dans le cadre de leurs programmes universitaires : (a) des possibilités limitées de formation dans le domaine de la FI sont offertes aux universitaires en psychologie du counseling, (b) le travail d’équipe améliore les soins aux patients, (c) le travail d’équipe peut compromettre la confidentialité du client et (d) le public et d’autres professions de soins de santé sous-évaluent les psychologues en contexte de prestation de soins de santé. Il s’en suit une discussion des implications pour le perfectionnement professionnel et de l'enseignement dans le domaine de la psychologie du counseling au Canada
Natalie’s drawing of barriers for BPD patients.
Natalie’s drawing of barriers for BPD patients.</p
Esme’s drawing of experience of having BPD.
Esme’s drawing of experience of having BPD.</p
Key stakeholders’ shared experiences with and expectations of the healthcare system.
Key stakeholders’ shared experiences with and expectations of the healthcare system.</p
Caregivers’ unique experiences with, and expectations of, healthcare system.
Caregivers’ unique experiences with, and expectations of, healthcare system.</p