| 1. |
- Manzoni, Claudia, et al.
(författare)
-
Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia
- 2024
-
Ingår i: American Journal of Human Genetics. - 0002-9297. ; 111:7, s. 1316-1329
-
Tidskriftsartikel (refereegranskat)abstract
- Frontotemporal dementia (FTD) is the second most common cause of early-onset dementia after Alzheimer disease (AD). Efforts in the field mainly focus on familial forms of disease (fFTDs), while studies of the genetic etiology of sporadic FTD (sFTD) have been less common. In the current work, we analyzed 4,685 sFTD cases and 15,308 controls looking for common genetic determinants for sFTD. We found a cluster of variants at the MAPT (rs199443; p = 2.5 × 10−12, OR = 1.27) and APOE (rs6857; p = 1.31 × 10−12, OR = 1.27) loci and a candidate locus on chromosome 3 (rs1009966; p = 2.41 × 10−8, OR = 1.16) in the intergenic region between RPSA and MOBP, contributing to increased risk for sFTD through effects on expression and/or splicing in brain cortex of functionally relevant in-cis genes at the MAPT and RPSA-MOBP loci. The association with the MAPT (H1c clade) and RPSA-MOBP loci may suggest common genetic pleiotropy across FTD and progressive supranuclear palsy (PSP) (MAPT and RPSA-MOBP loci) and across FTD, AD, Parkinson disease (PD), and cortico-basal degeneration (CBD) (MAPT locus). Our data also suggest population specificity of the risk signals, with MAPT and APOE loci associations mainly driven by Central/Nordic and Mediterranean Europeans, respectively. This study lays the foundations for future work aimed at further characterizing population-specific features of potential FTD-discriminant APOE haplotype(s) and the functional involvement and contribution of the MAPT H1c haplotype and RPSA-MOBP loci to pathogenesis of sporadic forms of FTD in brain cortex.
|
|
| 2. |
- Biks, Gashaw Andargie, et al.
(författare)
-
Birthweight data completeness and quality in population-based surveys : EN-INDEPTH study
- 2021
-
Ingår i: Population Health Metrics. - : BioMed Central (BMC). - 1478-7954. ; 19
-
Tidskriftsartikel (refereegranskat)abstract
- Background: Low birthweight (< 2500g) is an important marker of maternal health and is associated with neonatal mortality, long-term development and chronic diseases. Household surveys remain an important source of population-based birthweight information, notably Demographic and Health Surveys (DHS) and UNICEF's Multiple Indicator Cluster Surveys (MICS); however, data quality concerns remain. Few studies have addressed how to close these gaps in surveys.Methods: The EN-INDEPTH population-based survey of 69,176 women was undertaken in five Health and Demographic Surveillance System sites (Matlab-Bangladesh, Dabat-Ethiopia, Kintampo-Ghana, Bandim-Guinea-Bissau, IgangaMayuge-Uganda). Responses to existing DHS/MICS birthweight questions on 14,411 livebirths were analysed and estimated adjusted odds ratios (aORs) associated with reporting weighing, birthweight and heaping reported. Twenty-eight focus group discussions with women and interviewers explored barriers and enablers to reporting birthweight.Results: Almost all women provided responses to birthweight survey questions, taking on average 0.2min to answer. Of all babies, 62.4% were weighed at birth, 53.8% reported birthweight and 21.1% provided health cards with recorded birthweight. High levels of heterogeneity were observed between sites. Home births and neonatal deaths were less likely to be weighed at birth (home births aOR 0.03(95%CI 0.02-0.03), neonatal deaths (aOR 0.19(95%CI 0.16-0.24)), and when weighed, actual birthweight was less likely to be known (aOR 0.44(95%CI 0.33-0.58), aOR 0.30(95%CI 0.22-0.41)) compared to facility births and post-neonatal survivors. Increased levels of maternal education were associated with increases in reporting weighing and knowing birthweight. Half of recorded birthweights were heaped on multiples of 500g. Heaping was more common in IgangaMayuge (aOR 14.91(95%CI 11.37-19.55) and Dabat (aOR 14.25(95%CI 10.13-20.3) compared to Bandim. Recalled birthweights were more heaped than those recorded by card (aOR 2.59(95%CI 2.11-3.19)). A gap analysis showed large missed opportunity between facility birth and known birthweight, especially for neonatal deaths. Qualitative data suggested that knowing their baby's weight was perceived as valuable by women in all sites, but lack of measurement and poor communication, alongside social perceptions and spiritual beliefs surrounding birthweight, impacted women's ability to report birthweight.Conclusions: Substantial data gaps remain for birthweight data in household surveys, even amongst facility births. Improving the accuracy and recording of birthweights, and better communication with women, for example using health cards, could improve survey birthweight data availability and quality.
|
|
| 3. |
- Chirambo, Griphin Baxter, et al.
(författare)
-
End-user perspectives of two mHealth decision support tools : Electronic Community Case Management in Northern Malawi
- 2021
-
Ingår i: International Journal of Medical Informatics. - : Elsevier BV. - 1386-5056 .- 1872-8243. ; 145
-
Tidskriftsartikel (refereegranskat)abstract
- Background: The introduction of a paper-based Community Case Management (CCM) in Malawi has contributed to a reduction of child morbidity and mortality rates. In addition, the introduction of electronic Community Case Management (eCCM) (smartphones with built in CCM apps) may help to reduce the under-five mortality rates even further. Purpose: It is not uncommon for Apps with a similar area of interest to develop different features to assist the end users. Such differences between Apps may have a significant role to play in its overall adoption and integration. The purpose of this research was to explore end users perspectives of two eCCM decision support tools developed and implemented by the Supporting LIFE project (SL eCCM App) and D-Tree International's (Mangologic eCCM App)in Northern Malawi. Methods: A mixed methods approach was applied, involving a survey of 109 users (106 Health Surveillance Assistants (HSAs), and 3 Integrated Management of Childhood Il6lnesses (IMCI) coordinators). This was followed up with semi-structured interviews with 34 respondents (31 HSAs, and 3 IMCI coordinators). Quantitative data was analyzed using SPSS version 20 where descriptive statistics and Chi-Squared tests were generated. Qualitative data were analyzed based on thematic analysis. Results: Participants reported that both Apps could assist the HSAs in the management of childhood illnesses. However, usability differed between the two apps where the Supporting LIFE eCCM App was found to be easier to use (61%) compared to the Mangologic eCCM App (4%). Both Apps were perceived to provide credible and accurate information. Conclusion: It is essential that the quality of the data within Mobile Health (mHealth) Apps is high, however even Apps with excellent levels of data quality may not succeed if the overall usability of the App is low. Therefore it is essential that the Apps has high levels of data quality, usability and credibility. The results of this study will help inform mobile Health (mHealth) App designers in developing future eCCM Apps as well as researchers and policy makers when considering the adoption of mHealth solutions in the future in Malawi and other LMICs.
|
|
| 4. |
- Chirambo, Griphin Baxter, et al.
(författare)
-
Perceptions of a mobile health intervention for Community Case Management in Malawi : Opportunities and challenges for Health Surveillance Assistants in a community setting
- 2018
-
Ingår i: Malawi Medical Journal. - : African journals online (AJOL). - 1995-7262 .- 1995-7270. ; 30:1, s. 6-12
-
Tidskriftsartikel (refereegranskat)abstract
- Background: Improved availability of mobile phones in low- and middle-income countries (LMICs) offer an opportunity to improve delivery of Community Case Management (CCM). Despite enthusiasm for introducing mHealth into healthcare across LMICs, end-user attitudes towards mHealth solutions for CCM are limited. We aimed to explore Health Surveillance Assistants' (HSAs) perceptions of the Supporting LIFE electronic CCM Application (SL eCCM App) and their experiences incorporating it as part of their clinical practice.Methods: This exploratory qualitative study was part of a mixed methods feasibility study investigating whether children under-5 presenting to village clinics could be followed-up to collect patient outcome data. The convenience sample of 12 HSAs enrolled into the feasibility study participated in semi-structured interviews, which were conducted at village clinics after HSAs had field-tested the SL eCCM App over a 10-day period. Interviews explored HSAs perceptions of the SL eCCM App and their experiences in using the App in addition to paper CCM to assess and treat acutely unwell children. Open coding was used to label emerging concepts, which were iteratively defined and developed into six key themes.Results: HSAs' perceived enhanced clinical decision-making, quality of CCM delivery, and work efficiency as opportunities associated with using the SL eCCM App. HSAs believed the inability to retrieve patient records,, cumbersome duplicate assessments/data entry study procedures, and inconsistencies between the SL eCCM App and paper-based CCM guidelines as challenges to implementation. Adding features to the App, such as, permitting communication between colleagues/supervisors, drug stock-out reporting, and community assessments, were identified as potentially supporting HSAs' many roles in the community.Conclusion: This study identified opportunities and challenges associated with using the SL eCCM App in Malawi. This information can be used to inform future development and evaluation of the SL eCCM App, and similar mHealth solutions for CCM in Malawi and other developing countries.
|
|
