PurposeTo investigate health-related quality of life (HRQoL), tobacco and alcohol consumption in Leber hereditary optic neuropathy (LHON) affected and carriers in Sweden.MethodsThis cross-sectional case-control study included LHON affected and carriers from the Swedish LHON research registry. Age and sex matched healthy control (HC) references and references with other eye diseases were also included. Validated questionnaires on HRQoL, alcohol, smoking and smokeless-tobacco (snus) consumption were administered. The differences between groups and sub-groups (stratified for sex) were analyzed with ANOVA and independent samples t-test. Differences in prevalence of tobacco and alcohol consumption were evaluated with chi-square test.Results32 LHON affected and 32 carriers were included. Mean age at inclusion were 49.1 ± 19.7 years and 48.2 ± 17.7 years respectively. LHON affected and carriers did not show any significant difference in HRQoL compared to HC reference group. However, the affected males had significantly lower scores for role limitation due to physical health than affected females (67.1 ± 36.4 vs. 95.0 ± 15.8, p = 0.019). A higher prevalence of smoking (20%) and snus-use (33%) was seen among LHON affected. One-fourth of LHON affected had harmful or hazardous alcohol consumption risk classification.ConclusionsThe HRQoL was similar among the Swedish LHON cohort compared to HC references. Swedish LHON cohort showed a higher prevalence of smoking. Snus usage, and harmful or hazardous alcohol consumption were higher among LHON affected individuals.

The Amsterdam Instrumental ADL Questionnaire (A-IADL-Q) has shown promising performance in detecting subtle impairment in IADL independency. Importantly, it has not been validated in older people in a primary care setting, i.e., where the initial work-up and triaging of cognitive impairment occurs. The main aim was to examine the accuracy of the A-IADL-Q for estimating the cognitive stage in a primary care sample, both in the whole population and within the Alzheimer’s disease (AD) continuum. Secondary aims were to examine associations with the clinical dementia rating (CDR) scale and global cognition (MMSE), including the effects of non-cognitive co-morbidities and medications. This cross-sectional study includes informants of 362 participants from the BioFINDER-Primary care study . They completed the A-IADL-Q (higher scores = “better”) either on an iPad or at home on a computer. Cognitive stage was assessed by a dementia expert (blinded to A-IADL-Q scores). Amyloid status was determined using FDA-approved CSF or PET measures. The main outcome was cognitive stage according to the NIA-AA scale. Secondary outcomes were CDR-sum of the boxes (CDR-SOB) and MMSE. Receiver Operating Curves (ROC) analyses were used to calculate the area under the curves (AUCs). The mean age of participants (44.9% female) was 76.1 (SD 7.2) years. Out of which, 83 (23%) had subjective cognitive decline (SCD), 169 (47%) mild cognitive impairment (MCI), and 110 (30%) dementia. The AUC (95% CI) for differentiating between SCD versus MCI/dementia was 0.89 (0.85-0.92), and it was 0.89 (0.85-0.93) for SCD/MCI versus dementia. In amyloid positive participants (n = 303), AUCs were similar. Better A-IADL-Q scores were associated with worse results on CDR-SOB (r = -0.73, p<0.001) and better global cognition (MMSE, r = 0.361, p<0.001). The effects of different co-morbidities on the A-IADL score, adjusted for cognitive stage, will be presented at AAIC. Our findings suggest that the A-IADL-Q accurately estimates the cognitive stage among cognitively impaired older people (with high prevalence of comorbidities) in a primary care setting. This can aid primary care physicians in the diagnosis of cognitive impairment, clinical management/support, and as part of the work-up for identifying eligible participants for anti-amyloid treatment.

Amid growing efforts to mitigate climate change in healthcare systems, there is a need to better understand the complex social and political processes by which a healthcare system can progress towards "net zero" goals. We aimed to gather stakeholders' perspectives to explain this process by applying a qualitative Theory of Change (ToC) co-creation methodology in the subnational healthcare system of Catalonia, Spain. Iterative virtual focus group interviews and written feedback rounds gathered the perspectives of 12 stakeholders, including researchers, government officials and healthcare professionals working in the Catalan healthcare system and/or climate action. Thematic and axial coding on focus group transcripts identified themes, categories and relationships. A ToC consisting of a sequence of nearly two hundred events envisioned by stakeholders to reach a long-term desired change of a "smart net zero" healthcare system was developed. The need for simultaneous top-down and bottom-up change was recognized, with identification of key stakeholder groups. Events were categorized into four "core change pathways" (policy, industry, healthcare institutions' and healthcare workers' pathways) and six "supporting processes" (governance, participation and collaboration, finance, digitalization, knowledge production and knowledge dissemination). The sequence of events in every pathway was further categorized into five stages of change: motivation, commitment, planning, implementation, and monitoring and evaluation. A ToC approach was useful to understand context-specific political, logistical, and social constraints and opportunities for different types of stakeholders to contribute to change towards a "net zero" healthcare system.

Background Glaucoma, a leading cause of irreversible blindness worldwide, is characterised by retinal ganglion cell degeneration. Increasing evidence points to metabolic dysfunction, particularly mitochondrial dysfunction, as a contributing factor to glaucomatous neurodegeneration. This systematic review and meta-analysis aimed to identify key metabolic pathways and biomarkers associated with primary open-angle glaucoma (POAG).Methods A systematic literature search was conducted to identify studies measuring metabolites in plasma and aqueous humour from patients with POAG using metabolomics techniques. Enrichment analyses for significantly increased metabolites were conducted using MetaboAnalyst. Meta-analyses were performed using random-effects models to calculate effect sizes for metabolites reported in at least three studies.Results 17 studies involving patients with POAG were included. Pathway analysis revealed significant enrichment of the arginine and proline metabolism pathway in both aqueous humour and plasma. Additionally, the phenylalanine metabolism pathway was enriched in plasma. These pathways are associated with oxidative stress and neurodegeneration, both of which are key factors in POAG pathology. Meta-analysis identified several significantly elevated metabolites, including lysine, glutamine, alanine, histidine, carnitine and creatinine in aqueous humour, as well as methionine in plasma.Conclusions This study underscores the central role of metabolic dysfunction in POAG, highlighting specific metabolites and pathways that could serve as biomarkers for early diagnosis and therapeutic intervention. Future research should prioritise longitudinal studies and untargeted metabolomic profiling to further deepen our understanding of metabolic changes and their contributions to glaucoma progression.PROSPERO registration number CRD42024512098.

Purpose: To evaluate the retinal structure and visual function in asymptomatic subjects with Leber hereditary optic neuropathy (LHON) mutation. We evaluated macular ganglion cell layer and inner plexiform layer (GCL+IPL) and peripapillary retinal nerve fiber layer (RNFL) and assessed high and low contrast visual acuity and visual field sensitivity.Methods: A total of 28 asymptomatic carriers (37±20 years), 53.5% females, were enrolled. 100% and 13% contrast visual acuity, visual field sensitivity, and Optic coherence tomography (OCT) were performed. Visual field was evaluated with Humphrey Field Analyzer 3 using SITA 24‐2 strategy with white‐on‐white size III stimuli. OCT imaging was performed with a Zeiss Cirrus 5000 HD‐OCT using macular cube 512x128 scan, and optic disc cube 200x200 scan. The thickness and visual function metrics obtained were analyzed to investigate within‐subject differences. For each subject, the eyes were divided into best and worst based on the visual function parameters and as thickest and thinnest based on the structural measurements.Results: The mean difference between best and worst eye for 100% and 13% visual acuity were 0.03 ± 0.05 (range: 0 to 0.23) and 0.05 ± 0.06 logMAR (range: 0 to 0.18) respectively. For the mean deviation from visual field measurements varied by 1.11 ± 0.85 dB (range: 0.10 to 3.19) between the eyes. The mean difference between thickest and thinnest eye for GCL+IPL and RNFL were 1.48 ± 1.45 μm (range: 0 to 6) and 3.22 ± 2.85 μm (range: 0 to 9) respectively. All the visual function metrics and the structural measurements displayed small but statistically significant inter‐eye differences (p < .005).Conclusions: In asymptomatic LHON carriers inter‐eye differences were found in structural and functional measurements. OCT imaging and precise visual function test may provide useful information about disease conversion risk in asymptomatic carriers.

Aim:To evaluate the structural changes of individual inner retinal layers in the macular area and identify the most affected layer in subgroups of multiple sclerosis (MS) patients compared to healthy controls (HC). Methods:In total, Optical coherence tomography (OCT) data from 507 MS patients and 183 HC were exported retrospectively. The MS patients were grouped according to MS sub-types, primary progressive (PP), Relapsing-Remitting (RR) and Secondary progressive (SP). Thickness of four inner retinal layers, the macula nerve fiber layer (NFL), ganglion cell layer (GCL), inner plexiform layer (IPL) and the inner nuclear layer (INL) were evaluated in nine sectors based on the Early Treatment Diabetic Retinopathy Study (ETDRS) map. The individual layer thickness measurements were compared between each MS subtype and HC while controlling for the potential confounding effects of age, sex, and previous history of ON. Results:The NFL was thinner in all inferior, superior, and nasal sectors in all MS subgroups. The thinning was more pronounced in the PP and SP groups. The thinning varied between 3 to 20% compared to HC. The GCL was also thinner, especially in the inner sectors of the ETDRS grid. The SP subgroup had the largest reduction (27.8%) in the inner nasal sector. The IPL was also reduced in all MS subgroups. In contrast to PP and SP groups, the RR group showed an increased INL thickness compared to HC in the inner sectors. Conclusion:Macular region is suitable for monitoring the neurodegeneration in MS. The macular NFL seems to have the strongest association with MS disease and may serve as a marker for global atrophy. The pattern of IPL reduction tends to follow the GCL, so these layers can be measured combined.

Objectives Children with midline gliomas have a dismal prognosis and current treatment options cannot offer cure. At progression after primary radiotherapy, reirradiation can be offered to relieve symptoms. The aim of this study is to evaluate the outcome of children treated with reirradiation for midline glioma since implementing national guidelines in 2019. Methods All children reirradiated for midline gliomas 2019-2023 in Sweden were retrospectively analysed. A review of medical records and treatment plans was performed to collect data on clinical and treatment characteristics, severe side effects, treatment effect and survival. Results Eleven patients were analysed and the median age at start of first reirradiation was 9 years (4-18). The median overall survival from end of first reirradiation was 5.6 months. The median follow-up was 4 months (0-14). The most common (91%) treatment at primary irradiation was 54 Gy in 30 fractions and at first (82%) and second (75%) reirradiation it was 20 Gy in 10 fractions. The median time between first and second irradiation was 8 months (4-27) and 6 months (6-7) between second and third irradiation. The median D2% to the brainstem was 74 Gy (59-91) at first reirradiation (n=11) and 95 Gy (77-95) at second reirradiation (n=4). In patients where the indication for reirradiation was progression of symptoms, 6 patients (67%) had relief of symptoms after reirradiation, and 3 patients (75%) had relief of symptoms after re-reirradiation. No patients had grade ≥3 side effects at reirradiation. One patient had acute respiratory grade ≥3 side effect (hyperventilation) at second reirradiation but recovered after treatment with steroids. Conclusion The implementation of national guidelines has harmonised how paediatric midline glioma are treated with reirradiation in Sweden. A structured follow-up shows that severe side effects are rare, and that reirradiation can offer relief of symptoms for selected patients.

Objectives To synthesize the evidence on the relationships between physical housing characteristics or housing accessibility and different aspects of health among community-dwelling people 60 years and older. Methods A systematic review of recent evidence with a narrative synthesis was conducted. Results We included 15 studies and found three themes covering physical housing characteristics or housing accessibility that are associated with aspects of health among community-dwelling older adults: (1) interventions by home modifications targeting housing features both at entrances and indoors; (2) non-interventions targeting indoor features; (3) non-interventions targeting entrance features, that is, the presence of an elevator or stairs at the entrance. The overall quality of evidence across studies was assessed as very low. Discussion The findings highlight the need for studies with a stronger research design and higher methodological quality that address the physical housing environment in relation to health among older adults to strengthen the body of evidence.

PURPOSE:The purpose of this study was to evaluate the optic disc and macula in a large cohort of patients with different severity of optic nerve hypoplasia (ONH) using high-resolution spectral domain optical coherence tomography (SD-OCT). METHODS:In total, 36 patients (52 ONH eyes and 17 fellow eyes in unilateral cases) and 45 healthy right eyes from 45 controls were evaluated. All patients underwent an examination to confirm the diagnosis. SD-OCT images of the disc and macula were obtained and analysed both quantitatively and qualitatively. RESULTS:OCT in ONH eyes demonstrated a shorter disc diameter (1061 ± 375 μm vs. 1751 ± 221 μm, p < 0.001), shallower mean cup depth (427 ± 171 μm vs. 551 ± 152 μm, p = 0.01), thinner ganglion cell complex (GCC) perifoveally (47.3 ± 13.0 μm, 60.8 ± 6.0 μm, p < 0.001) and reduced foveal depth (61 ± 36 μm, 119 ± 19 μm, p < 0.001) compared to control eyes. Qualitative analysis showed that 1/3rd of ONH eyes lacked signs of an optic cup, and 2/3rd had reduced or no sign of a foveal pit. Fellow eyes had shorter disc diameter (1446 ± 404 μm vs. 1751 ± 221 μm, p = 0.004) and reduced foveal depth (93 ± 27 μm vs. 119 ± 19 μm, p < 0.001) but similar GCC thickness (60.8 ± 7.1 μm vs. 60.8 ± 6.0 μm, p = 0.738) compared to controls. Disc diameter showed the best correlation with visual acuity in ONH eyes (ρ = 0.517, p < 0.001). CONCLUSION:ONH eyes have reduced GCC thickness and reduced or no foveal pit. Fellow eyes in presumed unilateral cases have a smaller disc diameter and reduced foveal depth compared to controls, suggesting the possibility of subclinical/mild disease. However, GCC thickness was normal. The correlation between structure and visual function is not always straightforward.

Integration of child-specific adaptation measures into health policies is imperative given children's heightened susceptibility to the health impacts of climate change. Using a document analysis method, we examined 160 national adaptation policies for inclusion of child-relevant measures and identified 19 child health-related adaptation domains. 44 (28%) of 160 countries' policies that were analysed failed to include any domains, 49 (31%) included at least one child-related domain, 62 (39%) included between two and six domains, and five (3%) included at least seven domains. Predominant domains among child-specific adaptation measures included education and awareness raising, followed by community engagement and nutrition. No country addressed children's direct needs in the domain of mental health. National adaptation policies tend towards overly simple conceptualisations of children across four major lenses: age, social role, gender, and agency. Limited inclusion of child-specific measures in national adaptation policies suggests insufficient recognition of and action on children's susceptibility to climate change effects.

BACKGROUND:Optic pathway glioma (OPG) is a feared complication to neurofibromatosis type 1 (NF1) since it can cause visual impairment in young children. The main goal of screening is to detect symptomatic OPGs that require treatment. Optical coherence tomography (OCT) has been suggested as a tool for detection of neuro-retinal damage. AIMS:To investigate whether the ganglion cell layer assessed by OCT is a reliable measure to identify and detect relapses of symptomatic OPGs in children with NF1. METHODS:Children (3-6 years) with NF1, with and without known OPG and children with sporadic OPG (S-OPG) resident in the Stockholm area, were invited and followed in a prospective study during a three-year period. Brain magnetic resonance tomography (MRI) had been performed in children with symptoms of OPG. Outcome measures were VA in logMAR, visual field index (VFI), average thicknesses of the ganglion cell-inner plexiform layer (GC-IPL), and peripapillary retinal nerve fiber layer (pRNFL). RESULTS:There were 25 children with MRI-verified OPG and 52 with NF1 without symptomatic OPG. Eyes from NF1 patients without symptoms of OPG showed significantly better results in all four analyzed parameters compared to eyes with NF1-associated OPG. Mean GC-IPL measurements seemed stable and reliable, significantly correlated to pRNFL (correlation coefficient (r) = 0.662, confidence interval (CI) = .507 to .773 p<0.001), VA (r = -0.661, CI = -7.45 to -.551, p<0.001) and VFI (r = 0.644, CI = .452 to .774, p<0.001). GC-IPL measurements were easy to obtain and acquired at considerably younger age than pRNFL (5.6±1.5 vs 6.8±1.3; p<0.001). CONCLUSIONS:The mean GC-IPL thickness could distinguish well between eyes with OPG and eyes without symptomatic OPG in children with NF1. As thinning of GC-IPL assessed with OCT could indicate underlying OPG, it should be included in the screening protocol of children with questionable VA measurements and in particular in children with NF1.

Purpose: To evaluate the ganglion cell complex (GCC) thickness using the Iowa Reference Segmentation Algorithm in individuals with chronic Leber hereditary optic neuropathy (LHON) and to assess its relation to visual acuity, visual field sensitivity, and Estermann score. Methods: In this study, a total of 17 patients (34 eyes) aged 16–72 with chronic LHON were enrolled. Visual acuity, visual fields, and Optic coherence tomography (OCT) were performed. Visual fields was evaluated with Estermann and a custom central 30‐degree test, both performed monocularly with the Octopus 900 Haag‐Streit Diagnostics. OCT imaging was performed using a Canon OCT HS‐100 to measure the retinal ganglion cell complex (GCC) thickness. The raw OCT images were exported to IOWA Reference Algorithm and the GCC segmentation was rechecked and manually recorrected if needed. The thickness obtained from the Iowa Reference Algorithms was analysed and compared against the automated segmentation provided by the OCT's inbuilt segmentation algorithm. The correlation between the GCC thickness from 9 ETDRS sectors and the visual function were analysed. Results: On average the automated segmentation overestimated GCC thickness by 23.8 μm for all sectors. Macular central GCC correlated significantly with both visual field sensitivity and Estermann points missed ( r = −0.486 and −0.396 respectively). Macular middle sector GCC thickness correlated significantly with visual acuity and visual field sensitivity ( r = −0.586 and −0.396 respectively). GCC thickness in outer macular sector correlated significantly only with visual acuity ( r = −0.471). Conclusions: In patients with chronic LHON, GCC thickness in central and middle sectors of macula correlates well with the visual function. OCT imaging and precise ganglion cell thickness evaluations in the macula can provide useful information about the structural damage and level of visual impairment in chronic LHON patients.

Introduction: The gerontological literature suggests that external housing-related control beliefs (HCB) influence activities of daily living (ADL) among older people, but knowledge is scarce for people with Parkinson’s disease (PD). This longitudinal study aimed to explore the directions of the relationship between external HCB and ADL among people with PD. Methods: Baseline (T1) and 3-year follow-up data (T2) were collected from 154 people with PD (mean age = 68 years, T1). Two regression analyses were applied, where dependent (T2 values) and independent (T1 values) variables—external HCB score and PD specific ADL (PADLS)—were switched, adjusting for age, disease severity, cognitive functioning, and accessibility problems. Results: There was a significant effect of ADL on external HCB (β = 3.07, p < .001, CI [1.28, 4.85]), but no effect in the reverse direction. The proportion with moderate-extreme ADL difficulties increased over time (from 20.8% to 32.5%, p = .006). Discussion: ADL difficulties seem to lead to higher external HCB, but not the other way around, which contradicts assumptions in environmental gerontology theories. This new knowledge can promote theory development. While additional studies are required to verify whether this is a disease-specific finding, this indicates the importance of targeting ADL if the purpose is to influence external HCB among people with PD.

BACKGROUND:As prevalence of tobacco use falls, socioeconomic inequalities in tobacco use are increasing in many high-income countries. Evidence is lacking on the effect of preventive interventions on socioeconomic inequalities in smoking initiation among adolescents. We evaluated whether a multicomponent school-based prevention programme with parental involvement has differential effects on smoking initiation across socioeconomic groups and affects the magnitude of socioeconomic inequalities in smoking initiation. METHODS:A secondary analysis of data from a 3-year cluster randomised controlled trial, the TOPAS study, conducted in Sweden from 2018 to 2021. Schools were randomised either to the full programme (Tobacco-Free Duo, T-DUO) or minimal intervention (EDU). The analysis was conducted according to intention to treat for the primary outcome, the probability of remaining a non-user of cigarettes at the end of compulsory school (ages 15-16). Parents' educational attainment was the socioeconomic variable. Differential effects were analysed by comparing adolescents exposed to T-DUO with those exposed to EDU within each socioeconomic group. The effect of the intervention on the magnitude of inequalities was analysed by comparing several measures of absolute and relative inequalities between T-DUO and EDU. RESULTS:At the end of follow-up, the full programme had a similar, at most moderate effect on smoking initiation in all socioeconomic groups (relative risk 1.13 (95% CI 1.02 to 1.25) in the middle group). The programme did not significantly affect the magnitude of inequalities (Slope Index of Inequality difference 1.49 (95% CI -15.34 to 18.32)). DISCUSSION:Socioeconomic inequalities in smoking initiation remain substantial. Our results indicate the absence of an effect of the programme T-DUO on these inequalities.

The general discourse in health and social care policy purports digital technology as necessary to meet growing demands for long-term care and health care as a result of an ageing population. This needs critical investigation since public policy influences people's health and wellbeing. This study aims to interrogate critically what we call the ‘digital technology solution’ discourse in local Swedish health and social care policies. The main concern of our analysis is the discursive constructions of older people and their informal carers and how the concept of health is constructed. A discourse analysis was conducted of 61 local policy documents using the ‘What's the Problem Represented to Be’ method. Our analysis revealed that so-called ‘e-health strategies’ were rarely concerned with health. Health was often referred to as an activity and seen as a means to achieve independence among older people. The norm advocated independence, with the responsibility placed upon the older person, supported by digital technology. Informal carers were constructed as a resource within an older person's environment and largely taken for granted. We argue that the digital solution discourse ignores older people's agency and capacities as contributors to society, not least with regards to being providers of informal care.