| 31. |
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| 32. |
- Andersson, Bo, Docent, 1965-, et al.
(författare)
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Enhancing Information Quality as Part of the Disease Surveillance System in Malawi, Africa : Reflections on a mHealth Intervention
- 2017
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Ingår i: Information Systems Development: Advances in Methods, Tools and Management. - Larnaca : Association for Information Systems. - 9789963228836
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Konferensbidrag (refereegranskat)abstract
- Public health surveillance and response to disease outbreaks is still a hurdle in many developing countries across sub-Saharan Africa. Pivotal in disease surveillance and response is the reliance on valid information, hence, the need for information which has high Information Quality (IQ) characteristics. A key issue with disease surveillance systems, stem from the diverse range of data sources with various levels of information quality that may affect the trustworthiness of the information. However, with the increasing diffusion of mobile phone technologies, there are opportunities to improve IQ. The aim of this study was to assess the information quality in data collected through a smartphone application. Based on qualitative data from interviews, workshop and system specifications, it was found that information quality improves with the use of smartphone applications but aspects such as user competence and trustworthiness, must be addressed to maximize the benefits of using mobile technologies for disease surveillance.
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| 33. |
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| 34. |
- Arber, Charles, et al.
(författare)
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Familial Alzheimer's Disease Mutations in PSEN1 Lead to Premature Human Stem Cell Neurogenesis.
- 2021
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Ingår i: Cell reports. - : Elsevier BV. - 2211-1247. ; 34:2
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Tidskriftsartikel (refereegranskat)abstract
- Mutations in presenilin 1 (PSEN1) or presenilin 2 (PSEN2), the catalytic subunit of γ-secretase, cause familial Alzheimer's disease (fAD). We hypothesized that mutations in PSEN1 reduce Notch signaling and alter neurogenesis. Expression data from developmental and adult neurogenesis show relative enrichment of Notch and γ-secretase expression in stem cells, whereas expression of APP and β-secretase is enriched in neurons. We observe premature neurogenesis in fAD iPSCs harboring PSEN1 mutations using two orthogonal systems: cortical differentiation in 2D and cerebral organoid generation in 3D. This is partly driven by reduced Notch signaling. We extend these studies to adult hippocampal neurogenesis in mutation-confirmed postmortem tissue. fAD cases show mutation-specific effects and a trend toward reduced abundance of newborn neurons, supporting a premature aging phenotype. Altogether, these results support altered neurogenesis as a result of fAD mutations and suggest that neural stem cell biology is affected in aging and disease.
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| 35. |
- Blom, Elin Susanne, et al.
(författare)
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Does APOE explain the linkage of Alzheimer’s disease to chromosome 19q13?
- 2008
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Ingår i: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. - : Wiley. - 1552-485X. ; 147B:6, s. 778-83
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Tidskriftsartikel (refereegranskat)abstract
- We have studied the impact of the apolipoprotein E gene (APOE) on the chromosome 19 linkage peak from an analysis of sib-pairs affected by Alzheimer's disease. We genotyped 417 affected sib-pairs (ASPs) collected in Sweden and Norway (SWE), the UK and the USA for 10 microsatellite markers on chromosome 19. The highest Zlr (3.28, chromosome-wide P-value 0.036) from the multi-point linkage analysis was located approximately 1 Mb from APOE, at marker D19S178. The linkage to chromosome 19 was well explained by APOE in the whole sample as well as in the UK and USA subsamples, as identity by descent (IBD) increased with the number of epsilon 4 alleles in ASPs. There was a suggestion from the SWE subsample that linkage was higher than would be expected from APOE alone, although the test for this did not reach formal statistical significance. There was also a significant age at onset (aao) effect on linkage to chromosome 19q13 in the whole sample, which manifested itself as increased IBD sharing in relative pairs with lower mean aao. This effect was partially, although not completely, explained by APOE. The aao effect varied considerably between the different subsamples, with most of the effect coming from the UK sample. The other samples showed smaller effects in the same direction, but these were not significant.
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| 36. |
- Blom, Elin Susanne, et al.
(författare)
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Further analysis of previously implicated linkage regions for Alzheimer’s disease in affected relative pairs
- 2009
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Ingår i: BMC Medical Genetics. - : Springer Science and Business Media LLC. - 1471-2350. ; 10, s. 122-
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Tidskriftsartikel (refereegranskat)abstract
- Background: Genome-wide linkage studies for Alzheimer's disease have implicated several chromosomal regions as potential loci for susceptibility genes. Methods: In the present study, we have combined a selection of affected relative pairs (ARPs) from the UK and the USA included in a previous linkage study by Myers et al. (Am J Med Genet, 2002), with ARPs from Sweden and Washington University. In this total sample collection of 397 ARPs, we have analyzed linkage to chromosomes 1, 9, 10, 12, 19 and 21, implicated in the previous scan. Results: The analysis revealed that linkage to chromosome 19q13 close to the APOE locus increased considerably as compared to the earlier scan. However, linkage to chromosome 10q21, which provided the strongest linkage in the previous scan could not be detected. Conclusion: The present investigation provides yet further evidence that 19q13 is the only chromosomal region consistently linked to Alzheimer's disease.
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| 37. |
- Bras, Jose, et al.
(författare)
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Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies.
- 2014
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Ingår i: Human molecular genetics. - : Oxford University Press (OUP). - 1460-2083 .- 0964-6906. ; 23:23, s. 6139-6146
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Tidskriftsartikel (refereegranskat)abstract
- Clinical and neuropathological similarities between dementia with Lewy bodies (DLB), Parkinson's and Alzheimer's diseases (PD and AD, respectively) suggest that these disorders may share etiology. To test this hypothesis, we have performed an association study of 54 genomic regions, previously implicated in PD or AD, in a large cohort of DLB cases and controls. The cohort comprised 788 DLB cases and 2624 controls. To minimize the issue of potential misdiagnosis, we have also performed the analysis including only neuropathologically proven DLB cases (667 cases). The results show that the APOE is a strong genetic risk factor for DLB, confirming previous findings, and that the SNCA and SCARB2 loci are also associated after a study-wise Bonferroni correction, although these have a different association profile than the associations reported for the same loci in PD. We have previously shown that the p.N370S variant in GBA is associated with DLB, which, together with the findings at the SCARB2 locus, suggests a role for lysosomal dysfunction in this disease. These results indicate that DLB has a unique genetic risk profile when compared with the two most common neurodegenerative diseases and that the lysosome may play an important role in the etiology of this disorder. We make all these data available.
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| 38. |
- Chirambo, Griphin Baxter, et al.
(författare)
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Effectiveness of Smartphone-Based Community Case Management on the Urgent Referral, Reconsultation, and Hospitalization of Children Aged Under 5 Years in Malawi : Cluster-Randomized, Stepped-Wedge Trial
- 2021
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Ingår i: Journal of Medical Internet Research. - : JMIR Publications. - 1438-8871. ; 23:10
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Integrated community case management (CCM) has led to reductions in child mortality in Malawi resulting from illnesses such as malaria, pneumonia, and diarrhea. However, adherence to CCM guidelines is often poor, potentially leading to inappropriate clinical decisions and poor outcomes. We determined the impact of an e-CCM app on the referral, reconsultation, and hospitalization rates of children presenting to village clinics in Malawi.OBJECTIVE: We determined the impact of an electronic version of a smartphone-based CCM (e-CCM) app on the referral, reconsultation, and hospitalization rates of children presenting to village clinics in Malawi.METHODS: We used a stepped-wedge, cluster-randomized trial to compare paper-based CCM (control) with and without the use of an e-CCM app on smartphones from November 2016 to February 2017. A total of 102 village clinics from 2 districts in northern Malawi were assigned to 1 of 6 clusters, which were randomized on the sequencing of the crossover from the control phase to the intervention phase as well as the duration of exposure in each phase. Children aged ≥2 months to <5 years who presented with acute illness were enrolled consecutively by health surveillance assistants. The primary outcome of urgent referrals to higher-level facilities was evaluated by using multilevel mixed effects models. A logistic regression model with the random effects of the cluster and the fixed effects for each step was fitted. The adjustment for potential confounders included baseline factors, such as patient age, sex, and the geographical location of the village clinics. Calendar time was adjusted for in the analysis.RESULTS: A total of 6965 children were recruited-49.11% (3421/6965) in the control phase and 50.88% (3544/6965) in the intervention phase. After adjusting for calendar time, children in the intervention phase were more likely to be urgently referred to a higher-level health facility than children in the control phase (odds ratio [OR] 2.02, 95% CI 1.27-3.23; P=.003). Overall, children in the intervention arm had lower odds of attending a repeat health surveillance assistant consultation (OR 0.45, 95% CI 0.34-0.59; P<.001) or being admitted to a hospital (OR 0.75, 95% CI 0.62-0.90; P=.002), but after adjusting for time, these differences were not significant (P=.07 for consultation; P=.30 for hospital admission).CONCLUSIONS: The addition of e-CCM decision support by using smartphones led to a greater proportion of children being referred to higher-level facilities, with no apparent increase in hospital admissions or repeat consultations in village clinics. Our findings provide support for the implementation of e-CCM tools in Malawi and other low- and middle-income countries with a need for ongoing assessments of effectiveness and integration with national digital health strategies.TRIAL REGISTRATION: ClinicalTrials.gov NCT02763345; https://clinicaltrials.gov/ct2/show/NCT02763345.
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| 39. |
- Chirambo, Griphin Baxter, et al.
(författare)
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End-user perspectives of two mHealth decision support tools : Electronic Community Case Management in Northern Malawi
- 2021
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Ingår i: International Journal of Medical Informatics. - : Elsevier BV. - 1386-5056 .- 1872-8243. ; 145
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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.
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| 40. |
- Chirambo, Griphin Baxter, et al.
(författare)
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Perceptions of a mobile health intervention for Community Case Management in Malawi : Opportunities and challenges for Health Surveillance Assistants in a community setting
- 2018
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Ingår i: Malawi Medical Journal. - : African journals online (AJOL). - 1995-7262 .- 1995-7270. ; 30:1, s. 6-12
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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.
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