BackgroundResearch indicate that social class mobility could be potentially important for health, but whether this is due to the movement itself or a result of people having been integrated in different class contexts is, to date, difficult to infer. In addition, although several theories suggest that transitions between classes in the social hierarchy can be stressful experiences, few studies have empirically examined whether such movements may have health effects, over and above the implications of “being” in these classes. In an attempt to investigate whether intragenerational social mobility is associated with functional somatic symptoms in mid-adulthood, the current study tests three partially contrasting theories.MethodThe dissociative theory suggests that mobility in general and upward mobility in particular may be linked to psychological distress, while the falling from grace theory indicates that downward mobility is especially stressful. In contrast, the acculturation theory holds that the health implications of social mobility is not due to the movement itself but attributed to the class contexts in which people find themselves. Diagonal Reference Models were used on a sample of 924 individuals who in 1981 graduated from 9th grade in the municipality of Luleå, Sweden. Social mobility was operationalized as change in occupational class between age 30 and 42 (measured in 1995 and 2007). The health outcome was functional somatic symptoms at age 42, defined as a clustering self-reported physical symptoms, palpitation and sleeping difficulties during the last 12 months.ResultsOverall mobility was not associated with higher levels of functional somatic symptoms compared to being immobile (p = 0.653). After controlling for prior and current class, sex, parental social position, general health, civil status, education and unemployment, the association between downward mobility was borderline significant (p = 0.055) while upward mobility was associated with lower levels of functional somatic symptoms (p = 0.03).ConclusionThe current study did not find unanimous support for any of the theories. Nevertheless, it sheds light on the possibility that upward mobility may be beneficial to reduce stress-related health problems in mid-life over and above the exposure to prior and current class, while downward mobility can be of less importance for middle-age health complaints.

Corneal dystrophies are a clinically and genetically heterogeneous group of inherited disorders that bilaterally affect corneal transparency. They are defined according to the corneal layer affected and by their genetic cause. In this study, we identified a dominantly inherited epithelial recurrent erosion dystrophy (ERED)-like disease that is common in northern Sweden. Whole-exome sequencing resulted in the identification of a novel mutation, c.2816C>T, p.T939I, in the COL17A1 gene, which encodes collagen type XVII alpha 1. The variant segregated with disease in a genealogically expanded pedigree dating back 200 years. We also investigated a unique COL17A1 synonymous variant, c.3156C>T, identified in a previously reported unrelated dominant ERED-like family linked to a locus on chromosome 10q23-q24 encompassing COL17A1. We show that this variant introduces a cryptic donor site resulting in aberrant pre-mRNA splicing and is highly likely to be pathogenic. Bi-allelic COL17A1 mutations have previously been associated with a recessive skin disorder, junctional epidermolysis bullosa, with recurrent corneal erosions being reported in some cases. Our findings implicate presumed gain-of-function COL17A1 mutations causing dominantly inherited ERED and improve understanding of the underlying pathology.

Background:Long-term daily use of aspirin has been associated with reduced cancer mortality. To explore this association, we compared tumour TNM characteristics among aspirin users with those among non-users.Methods:From the Swedish Cancer Register, we identified patients diagnosed with colorectal, lung, prostate and breast cancers between 2006 and 2009 and matched them to the Swedish Prescribed Drug Register to obtain information on low-dose aspirin use prior to diagnosis. Contingency table and logistic regression analyses were used to test for association and obtain odds ratios (ORs).Results:We identified 17 041 colorectal, 9766 lung, 29 770 prostate and 20 299 breast cancer patients. The proportion of low-dose aspirin users was ∼26% among colorectal, lung and prostate cancer patients and ∼14% among breast cancer patients. Adjusted for age, gender, education level and place of residence, low-dose aspirin use was associated with lower tumour extent (T) for colorectal and lung cancers (P<0.0001) but not for prostate and breast cancers. The adjusted OR of aspirin use for the T4 vs T1 categories was ∼0.7 (95% confidence interval (CI) 0.6–0.8). For all cancers, we found no evidence of association of aspirin use with nodal involvement (N). Except for a borderline result in prostate cancer (OR ∼0.9; 95% CI 0.8–1.0), aspirin use was associated with a lower rate of metastatic disease (ORs ∼0.6–0.8). Among the histological subgroups of lung cancer, significant differences in tumour extent were observed most clearly within the adenocarcinoma subgroup (OR ∼0.6, 95% CI 0.5–0.8), although numbers of other subtypes were more limited; and there was a significant reduction of ∼20–30% in the odds of metastasis among the aspirin users across the subgroups.Conclusion:Use of low-dose aspirin in the year prior to diagnosis was found to be associated with lower tumour extent and fewer metastatic disease for colorectal and lung cancers. For these cancers, the benefit of aspirin use appears to be during both early and late cancer progression.

This study aimed to identify genetic mechanisms underlying severe retinal degeneration in one large family from northern Sweden, members of which presented with early-onset autosomal recessive retinitis pigmentosa and juvenile macular dystrophy. The clinical records of affected family members were analysed retrospectively and ophthalmological and electrophysiological examinations were performed in selected cases. Mutation screening was initially performed with microarrays, interrogating known mutations in the genes associated with recessive retinitis pigmentosa, Leber congenital amaurosis and Stargardt disease. Searching for homozygous regions with putative causative disease genes was done by high-density SNP-array genotyping, followed by segregation analysis of the family members. Two distinct phenotypes of retinal dystrophy, Leber congenital amaurosis and Stargardt disease were present in the family. In the family, four patients with Leber congenital amaurosis were homozygous for a novel c.2557C4T (p.Q853X) mutation in the CRB1 gene, while of two cases with Stargardt disease, one was homozygous for c.5461-10T4C in the ABCA4 gene and another was carrier of the same mutation and a novel ABCA4 mutation c.4773 þ 3A4G. Sequence analysis of the entire ABCA4 gene in patients with Stargardt disease revealed complex alleles with additional sequence variants, which were evaluated by bioinformatics tools. In conclusion, presence of different genetic mechanisms resulting in variable phenotype within the family is not rare and can challenge molecular geneticists, ophthalmologists and genetic counsellors.

Two intronic variants c.4773+3A>G and c.5461-10T>C, both predicted to affect splicing, are indeed disease-causing mutations due to skipping of exons 33, 34, 39 and 40 of ABCA4 gene. The experimental proof that ABCA4 mutations in STGD patients affect protein function is crucial for their inclusion to future clinical trials; therefore, functional testing of all ABCA4 intronic variants associated with Stargardt disease by minigene technology is desirable.

The health impact of poor social capital may be due to accumulation across the life course and to adolescence being a particularly sensitive period it is relevant for preventive work to acknowledge effects of social capital throughout life.

Background This study emerges as a response to the lack of youth perspectives when it comes to discussions about access to and experiences of health and social services in rural areas. It subsequently contributes to the literature by positioning young people at the centre of this debate, and by taking a more holistic approach to the topic than is typically the case. Specifically, based on the idea that a good life in proper health for young people may be contingent on notions of care that are bounded up in multi-layered social and spatial environments, the aim of this study was to explore what characterises ‘landscapes of care’ for rural youth. Methods In this qualitative study, the participants included young people and professionals residing in five diverse areas across the northern Swedish ‘peripheral’ inland. Individual interviews (16 in total) and focus group discussions (26 in total) were conducted with 63 youth aged 14–27 years and with 44 professionals operating across sectors such as health centres, school health, integration units, youth clinics and youth clubs. Following an emergent design and using thematic analysis, we developed one main theme, ‘landscapes of care and despair’, comprising the two themes: ‘(dis)connectedness’ and ‘extended support or troubling gaps’. Results The findings illustrate how various health-promoting and potentially harmful aspects acting at structural, organisational and interpersonal levels contributed to dynamic landscapes characterised simultaneously by care and despair. In particular, our study shows how rural youths’ feelings of belongingness to people and places coupled with opportunities to participate in society and access practical and emotional support appear to facilitate their care within rural settings. However, although the results indicate that some in the diverse group of rural youth were cared for and about, a negative picture was painted in parallel. These aspects of despair included youths’ senses of exclusion and marginalisation, degrading attitudes towards them and their problems, as well as recurrent gaps in the provision and practices of care. Conclusions To gain a more comprehensive understanding about the health of rural youth, this study highlights the benefits investigating ‘care-ful’ and ‘uncaring’ aspects bounded up in dynamic and multi-layered landscapes.

ABSTRACT.Purpose: To evaluate phenotypes caused by different RLBP1 mutations in autosomal recessive retinitis pigmentosa of Bothnia type. Methods: Compound heterozygotes for mutations in the RLBP1 gene [c.677T>A]+[c.700C>T] (p.M226K+p.R234W), n = 10, aged 7-84 years, and homozygotes c.677T>A (p.M226K), n = 2, aged 63 and 73 years, were studied using visual acuity (VA), low-contrast VA, visual fields (VFs) and optical coherence tomography (OCT). Retrospective VA and VFs, standardized dark adaptation and full-field electroretinograms (ERGs) were analysed and prolonged dark adaptometry and ERG (at 24 hr) were performed. Results: Progressive decline of VA and VF areas was age-dependent. Retinal degenerative maculopathy, peripheral degenerative changes and retinitis punctata albescens (RPA) were present. Early retinal thinning in the central foveal, foveal (Ø 1 mm), and inner ring (Ø 3 mm) in the macular region, with homogenous, high-reflectance RPA changes, was visualized in and adjacent to the retinal pigment epithelium ⁄ choriocapillaris using OCT. Reduced dark adaptation and affected ERGs were present in all ages. Prolonged dark adaptation and ERG (at 24 hr), an increase in final threshold, and ERG rod and mixed rod ⁄ cone responses were found. Conclusions: The two RLBP1 genotypes presented a phenotypical and electrophysiological expression of progressive retinal disease similar to that previously described in homozygotes for the c.700C>T (p.R234W) RLBP1 mutation. The uniform phenotypical expression of RLBP1 mutations is relevant information for the disease and of importance in planning future treatment strategies.