Parkinson's Disease, NOTCH3 Genetic Variants, and White Matter Hyperintensities.

BACKGROUND: White matter hyperintensities (WMH) on magnetic resonance imaging may influence clinical presentation in patients with Parkinson's disease (PD), although their significance and pathophysiological origins remain unresolved. Studies examining WMH have identified pathogenic variants in NOTCH3 as an underlying cause of inherited forms of cerebral small vessel disease. METHODS: We examined NOTCH3 variants, WMH volumes, and clinical correlates in 139 PD patients in the Ontario Neurodegenerative Disease Research Initiative cohort. RESULTS: We identified 13 PD patients (~9%) with rare (<1% of general population), nonsynonymous NOTCH3 variants. Bayesian linear modeling demonstrated a doubling of WMH between variant negative and positive patients (3.1 vs. 6.9 mL), with large effect sizes for periventricular WMH (d = 0.8) and lacunes (d = 1.2). Negative correlations were observed between WMH and global cognition (r = -0.2). CONCLUSION: The NOTCH3 rare variants in PD may significantly contribute to increased WMH burden, which in turn may negatively influence cognition. © 2020 International Parkinson and Movement Disorder Society.

Genetic Variation in the Ontario Neurodegenerative Disease Research Initiative.

BACKGROUND/OBJECTIVE: Apolipoprotein E (APOE) E4 is the main genetic risk factor for Alzheimer's disease (AD). Due to the consistent association, there is interest as to whether E4 influences the risk of other neurodegenerative diseases. Further, there is a constant search for other genetic biomarkers contributing to these phenotypes, such as microtubule-associated protein tau (MAPT) haplotypes. Here, participants from the Ontario Neurodegenerative Disease Research Initiative were genotyped to investigate whether the APOE E4 allele or MAPT H1 haplotype are associated with five neurodegenerative diseases: (1) AD and mild cognitive impairment (MCI), (2) amyotrophic lateral sclerosis, (3) frontotemporal dementia (FTD), (4) Parkinson's disease, and (5) vascular cognitive impairment. METHODS: Genotypes were defined for their respective APOE allele and MAPT haplotype calls for each participant, and logistic regression analyses were performed to identify the associations with the presentations of neurodegenerative diseases. RESULTS: Our work confirmed the association of the E4 allele with a dose-dependent increased presentation of AD, and an association between the E4 allele alone and MCI; however, the other four diseases were not associated with E4. Further, the APOE E2 allele was associated with decreased presentation of both AD and MCI. No associations were identified between MAPT haplotype and the neurodegenerative disease cohorts; but following subtyping of the FTD cohort, the H1 haplotype was significantly associated with progressive supranuclear palsy. CONCLUSION: This is the first study to concurrently analyze the association of APOE isoforms and MAPT haplotypes with five neurodegenerative diseases using consistent enrollment criteria and broad phenotypic analysis.

Étude de variance génétique dans le cadre de l'initiative de recherche sur les maladies neurodégénératives en Ontario. Contexte/Objectif : L'apolipoprotéine E4 (ApoE4) constitue le principal facteur de risque génétique de la maladie d'Alzheimer. En raison de cette association systématique, il existe un intérêt certain à savoir dans quelle mesure cette classe d'apolipoprotéines peut influencer le risque d'autres maladies neurodégénératives. En outre, le milieu de la recherche n'a de cesse d'identifier d'autres biomarqueurs génétiques, par exemple les haplotypes H1 de la protéine tau associée aux microtubules, qui contribuent à certains phénotypes, Dans le cadre de cette étude, des participants à l'initiative de recherche sur les maladies neurodégénératives en Ontario ont été « génotypés ¼ afin de déterminer si l'ApoE4 ou l'haplotype H1 mentionné ci-dessus peuvent être associés à cinq maladies neurodégénératives : 1) la maladie d'Alzheimer et d'autres troubles cognitifs légers ; 2) la sclérose latérale amyotrophique ; 3) la démence fronto-temporale ; 4) la maladie de Parkinson ; 5) et finalement les déficits cognitifs d'origine vasculaire. Méthodes : Pour chaque participant, la cartographie des génotypes a été établie en fonction de leur ApoE4 respectif et de la présence d'haplotypes H1 de la protéine tau associée aux microtubules. Des analyses de régression logistique ont été ensuite effectuées dans le but d'identifier de possibles liens avec ces maladies neurodégénératives. Résultats : Nos travaux ont confirmé l'association entre l'ApoE4 et une plus grande occurrence de cas d'Alzheimer, et ce, en tenant compte de l'effet d'une dose de médicament. Ils ont aussi montré une association entre la seule ApoE4 et des troubles cognitifs légers. Cela dit, il convient de préciser que les quatre autres maladies n'ont pas été associées à cet allèle. Plus encore, nous avons trouvé que l'allèle E2 de l'apolipoprotéine était associé à une occurrence plus faible de cas d'Alzheimer et de troubles cognitifs légers. Fait à souligner, aucune association n'a été détectée entre l'haplotype H1 de la protéine tau associée aux microtubules et nos cohortes atteintes de maladies neurodégénératives. Toutefois, à la suite du sous-typage de la cohorte de participants atteints de démence fronto-temporale, il s'est avéré que l'haplotype H1 était associé de façon notable à la paralysie supra-nucléaire progressive. Conclusion : Il s'agit de la première étude à analyser simultanément, au moyen de critères de participation cohérents et d'une analyse phénotypique élargie, les associations entre les isoformes de l'ApoE, l'haplotype H1 de la protéine tau associée aux microtubules et cinq maladies neurodégénératives.

Nurse-Patient Interaction as a Treatment for Antepartum Depression: A Mixed-Methods Analysis [Formula: see text].

BACKGROUND: The U.S. Preventative Services Task Force guidelines recommend pregnant women be screened for depression and adequate systems be in place to treat this condition. OBJECTIVE: This study examines a nurse-delivered telephone support intervention provided to low-income, pregnant women living in rural settings. DESIGN: This study had a complementary mixed-methods design, using secondary data. Peplau's theory of interpersonal relations was used as a framework to guide the study. RESULTS: The phases of Peplau's theory of interpersonal relations were evident in the interactions. Underserved women at high risk for depression appreciated this type of support, with the women at highest risk for depression utilizing more of the nursing support provided. On average, Mental Health Index-5 scores improved from 45 to 66. CONCLUSION: A nurse-delivered telephone support intervention, modeled around Peplau's theory of interpersonal relations, may be an effective way of providing support to underserved women and has the potential to treat or offset antepartum depression.

Optimism and other psychosocial influences on antenatal depression: a systematic review.

Antenatal depression is a debilitating experience for many women with significant personal and familial sequelae. Low-income pregnant women living in rural settings are especially vulnerable because of isolation, decreased resources, and stressful living environments. This systematic review summarizes what is known about antenatal depression and synthesizes the evidence regarding the role psychosocial variables could play in the development of safe, effective, and culturally-acceptable non-pharmacological interventions. Searches of the CINAHL, MEDLINE, PSYCHINFO, and ERIC databases, as well as the Cochrane Library, were conducted in September 2010 to identify articles relevant to our topic of study. Psychosocial variables have a significant association with antenatal depression. Optimism has been shown to be inversely correlated with depression, and directly correlated with improved birth outcomes. Optimism is a potentially modifiable variable that could be used to design antenatal prevention and treatment programs. As depression continues to increase in prevalence, and treatment options for pregnant women remain limited, effective interventions must be developed that address the psychosocial variables examined in this review.

Association of apolipoprotein E variation with cognitive impairment across multiple neurodegenerative diagnoses.

For many years there has been uncertainty regarding how apolipoprotein E (APOE) E2 and E4 variants may influence overlapping features of neurodegeneration, such as cognitive impairment. We aimed to identify whether the APOE variants are associated with cognitive function across various neurodegenerative and cerebrovascular diagnoses (n = 513). Utilizing a comprehensive neuropsychology battery, multivariate multiple regression was used to assess the influence of APOE carrier status and disease cohort on performance across five cognitive domains. Irrespective of disease cohort, E4 carriers had significantly lower performance in verbal memory and visuospatial domains than those with E3/3, while E2 carriers' cognitive performance was not significantly different. However, E2 carriers with frontotemporal dementia (FTD) performed significantly worse than those with E3/3 in the attention/working memory, executive function, and visuospatial domains. Our results highlight that the influence of APOE variation on cognition is complex, in some cases varying based on diagnosis and possibly underlying disease pathology.

Supporting Rural Women During Pregnancy: Baby BEEP Nurses.

PURPOSE: The aim of this study was to characterize nursing care provided by the research nurses from the Baby Behavioral Educational Enhancement of Pregnancy (Baby BEEP) study as they delivered a telephone social support intervention to low-income, pregnant women in the Midwestern United States. STUDY DESIGN AND METHODS: This was a descriptive qualitative study that used Peplau's Theory of Interpersonal Relations to frame and interpret the analysis. RESULTS: Research nurses from the Baby BEEP study found a novel way to reach a vulnerable population through weekly telephone interactions. Acting in several of Peplau's nursing roles, the care they provided led to a remarkable retention rate and therapeutic nurse-patient relationships. The Baby BEEP study demonstrated the provision of a well-received psychosocial support intervention that can be used to help underserved women throughout pregnancy. CLINICAL IMPLICATIONS: Telenursing care provided to low-income, rural women was well received and reflected the principles in Peplau's Theory of Interpersonal Relations. Nurses may use this type of nursing care to support women who are difficult to reach and typically experience low levels of support. This article describes the nursing care provided by the Baby BEEP nurses and provides a model for future, novel approaches to social support in a vulnerable and difficult-to-reach population.

Exploring the Nuances of Nurse-Patient Interaction through Concept Analysis: Impact on Patient Satisfaction.

Patient satisfaction is a major priority in healthcare. Nurse-patient interaction has a direct effect on patient satisfaction and is essential to the provision of nursing care. Using the Avant and Walker method of concept analysis, the author explores what shapes nurse-patient interaction; the defining attributes, antecedents, consequences and empirical referents. In addition, cases are provided that illustrate various types of nurse-patient interaction. The author also discusses the concept of nurse-patient interaction in light of current nursing research trends and priorities, adding to the base of nursing knowledge that will facilitate the highest quality nursing care and patient satisfaction.

The cost of prenatal care attendance and pregnancy outcomes in low-income working women.

OBJECTIVE: To examine personal costs (dollar costs and time spent) associated with prenatal care (PNC) attendance and outcomes (gestation length, PNC adequacy, and birth weight) for low-income, working women (N = 165). DESIGN: Prospective, descriptive study. SETTING: Participants were recruited from a pre-natal clinic located at an inner city tertiary care center. PARTICIPANTS: A convenience sample of 165 low-income, working women. MAIN OUTCOME MEASURES: Personal costs were measured as dollar costs and time spent associated with PNC attendance. Perinatal outcomes were measured as gestation length, PNC adequacy, and birth weight. RESULTS: Per visit, the mean cost associated with PNC was 33.31 dollars (range 1-125.60 dollars, SD = 32.33 dollars) and the time needed to attend care was 228 min (20-720, SD = 205). Women delivered at 37.8 (18-42) weeks; 17.6% of the women received inadequate PNC, and 17.0% of the women delivered low-birth-weight newborns. CONCLUSIONS: The findings indicated that personal costs associated with PNC attendance were not associated with inadequate care attendance.

The FDA recommendations on fish intake during pregnancy.

The U.S. Food and Drug Administration recommends that pregnant women, women of childbearing age, and young children avoid eating shark, swordfish, mackerel, and tilefish. These fish often harbor high levels of methylmercury, a potent human neurotoxin. Methylmercury readily crosses the placenta and has the potential to significantly damage the fetal nervous system. Health care providers are responsible for educating women about the hazards of methylmercury and the Food and Drug Administration recommendation.

A review of cultural influence on maternal mortality in the developing world.

OBJECTIVE: identify research examining the effect of culture on maternal mortality rates. DESIGN: literature review of CINAHL, Cochrane, PsychInfo, OVID Medline and Web of Science databases. SETTING: developing countries with typically higher rates of maternal mortality. PARTICIPANTS: women, birth attendants, family members, nurse midwives, health-care workers, and community members. MEASUREMENTS AND FINDINGS: reviews, qualitative and mixed-methods research have identified components of culture that have a direct impact on maternal mortality. Examples of culture are given in the text and categorised according to the way in which they impact maternal mortality. KEY CONCLUSIONS: cultural customs, practices, beliefs and values profoundly influence women's behaviours during the perinatal period and in some cases increase the likelihood of maternal death in childbirth. The four ways in which culture may increase MMR are as follows: directly harmful acts, inaction, use of care and social status. IMPLICATIONS FOR PRACTICE: understanding the specifics of how the culture surrounding childbirth contributes to maternal mortality can assist nurses, midwives and other health-care workers in providing culturally competent care and designing effective programs to help decrease MMR, especially in the developing world. Interventions designed without accounting for these cultural factors are likely to be less effective in reducing maternal mortality.