Terveydenhoitajien kokemuksia lapsiperheiden hyvinvoinnista

Lapsiperheen terveys ja hyvinvointi heijastuvat jokaisen perheenjäsenen arkeen ja toimintaan. Jokaisella on subjektiivinen tuntemus perheestä, terveydestä ja hyvinvoinnista. Lastenneuvolan ja terveydenhoitajan rooli lapsiperheiden terveyden ja hyvinvoinnin edistäjänä on merkittävä. Opinnäytetyön tutkimustehtävänä oli selvittää, miten lastenneuvoloiden terveydenhoitajat kokevat lapsiperheiden hyvinvoinnin. Saatuja tuloksia voidaan hyödyntää palveluiden kehittämisessä ja kuntien hyvinvointikertomuksessa. Opinnäytetyö tehtiin osana Itä-Suomen SOHVI-hanketta, jonka kuntakumppanina ja tämän opinnäytetyön toimeksiantajana toimii Joensuun kaupunki. Tutkimus toteutettiin kvalitatiivisesti ja haastattelut tehtiin tammi-maaliskuussa 2013. Haastattelun kohteina olivat Joensuun ja Kontiolahden sosiaali- ja terveydenhuollon yhteistoiminta-alueen lastenneuvoloiden terveydenhoitajat. Tutkimustulosten mukaan Joensuu-Kontiolahti-yhteistoiminta-alueen lapsiperheet voivat pääsääntöisesti hyvin. Suurimpia uhkia perheiden hyvinvoinnille ovat työelämän epävakaisuus, voimavarojen riittämättömyys ja vanhempien mielenterveysongelmat. Vertaistuki, perheenjäsenten väliset hyvät suhteet ja taloudellinen vakaus ovat lapsiperheiden hyvinvoinnin vahvuuksia. Lastenneuvola kiinnittää huomiota perheen hyvinvoinnin kokonaisvaltaiseen tarkasteluun. Jatkotutkimusaiheena voisi olla terveydenhoitajien ja lapsiperheiden näkemysten kohtaaminen lapsiperheiden hyvinvoinnista.The health and welfare of families with children reflects to the everyday activities of each family member. Everyone has their subjective feeling of their family, health and welfare. The role of child health clinics and public health nurses is to promote the health and welfare of families with children. The aim of this thesis was to find out how public health nurses in child health clinics experience the welfare of child families. The results can be used in the development of services and in municipal welfare reports. This thesis was commissioned by the City of Joensuu and it was made as part of East-ern Finland’s SOHVI-project. The study was carried out using qualitative research tech-niques and the data was collected by theme interviews in January-March 2013. The interviewees included public health nurses in municipal child health clinics in Joensuu and in Kontiolahti. The results showed that families with children feel mostly well in Joensuu and in Kontiolahti. The biggest risks for the health and welfare of families are instability of work, insufficient resources and parents’ mental problems. Peer support, relationships between family members and a stable economic situation are the strengths of family welfare. In child health clinics, the focus is on comprehensive welfare. Topics for further studies in the subject could be how the results of this thesis match with families’ own feeling concerning their welfare

Refining the genomic location of single nucleotide polymorphism variation affecting Atlantic salmon maturation timing at a key large-effect locus

Efforts to understand the genetic underpinnings of phenotypic variation are becoming more and more frequent in molecular ecology. Such efforts often lead to the identification of candidate regions showing signals of association and/or selection. These regions may contain multiple genes and therefore validation of which genes are actually responsible for the signal is required. In Atlantic salmon (Salmo salar), a large-effect locus for maturation timing, an ecologically important trait, occurs in a genomic region including two genes, vgll3 and akap11, but data for clearly determining which of the genes (or both) contribute to the association have been lacking. Here, we take advantage of natural recombination events detected between the two candidate genes in a salmon broodstock to reduce linkage disequilibrium at the locus, thus enabling delineation of the influence of variation at these two genes on early maturation. By rearing 5,895 males to maturation age, of which 81% had recombinant vgll3/akap11 allelic combinations, we found that vgll3 single nucleotide polymorphism (SNP) variation was strongly associated with early maturation, whereas there was little or no association between akap11 SNP variation and early maturation. These findings provide strong evidence supporting vgll3 as the primary candidate gene in the chromosome 25 locus for influencing early maturation. This will help guide future research for understanding the genetic processes controlling early maturation. This also exemplifies the utility of natural recombinants to more precisely map causal variation underlying ecologically important phenotypic diversity.Peer reviewe

Ecological and genetic basis of metapopulation persistence of the Glanville fritillary butterfly in fragmented landscapes

Ecologists are challenged to construct models of the biological consequences of habitat loss and fragmentation. Here, we use a metapopulation model to predict the distribution of the Glanville fritillary butterfly during 22 years across a large heterogeneous landscape with 4,415 small dry meadows. The majority (74%) of the 125 networks into which the meadows were clustered are below the extinction threshold for long-term persistence. Among the 33 networks above the threshold, spatial configuration and habitat quality rather than the pooled habitat area predict metapopulation size and persistence, but additionally allelic variation in a SNP in the gene Phosphoglucose isomerase (Pgi) explains 30% of variation in metapopulation size. The Pgi genotypes are associated with dispersal rate and hence with colonizations and extinctions. Associations between Pgi genotypes, population turnover and metapopulation size reflect eco-evolutionary dynamics, which may be a common feature in species inhabiting patch networks with unstable local dynamics.Peer reviewe

Genetic coupling of life-history and aerobic performance in Atlantic salmon

A better understanding of the genetic and phenotypic architecture underlying life-history variation is a longstanding aim in biology. Theories suggest energy metabolism determines life-history variation by modulating resource acquisition and allocation trade-offs, but the genetic underpinnings of the relationship and its dependence on ecological conditions have rarely been demonstrated. The strong genetic determination of age-at-maturity by two unlinked genomic regions (vgll3 and six6) makes Atlantic salmon (Salmo salar) an ideal model to address these questions. Using more than 250 juveniles in common garden conditions, we quantified the covariation between metabolic phenotypes-standard and maximum metabolic rates (SMR and MMR), and aerobic scope (AS)-and the life-history genomic regions, and tested if food availability modulates the relationships. We found that the early maturation genotype in vgll3 was associated with higher MMR and consequently AS. Additionally, MMR exhibited physiological epistasis; it was decreased when late maturation genotypes co-occurred in both genomic regions. Contrary to our expectation, the life-history genotypes had no effects on SMR. Furthermore, food availability had no effect on the genetic covariation, suggesting a lack of genotype-by-environment interactions. Our results provide insights on the key organismal processes that link energy use at the juvenile stage to age-at-maturity, indicating potential mechanisms by which metabolism and life-history can coevolve.Peer reviewe

Polygenic and major-locus contributions to sexual maturation timing in Atlantic salmon

Sexual maturation timing is a life-history trait central to the balance between mortality and reproduction. Maturation may be triggered when an underlying compound trait, called liability, exceeds a threshold. In many different species and especially fishes, this liability is approximated by growth and body condition. However, environmental vs. genetic contributions either directly or via growth and body condition to maturation timing remain unclear. Uncertainty exists also because the maturation process can reverse this causality and itself affect growth and body condition. In addition, disentangling the contributions of polygenic and major loci can be important. In many fishes, males mature before females, enabling the study of associations between male maturation and maturation-unbiased female liability traits. Using 40 Atlantic salmon families, longitudinal common-garden experimentation, and quantitative genetic analyses, we disentangled environmental from polygenic and major locus (vgll3) effects on male maturation, and sex-specific growth and condition. We detected polygenic heritabilities for maturation, growth, and body condition, and vgll3 effects on maturation and body condition but not on growth. Longitudinal patterns for sex-specific phenotypic liability, and for genetic variances and correlations between sexes suggested that early growth and condition indeed positively affected maturation initiation. However, towards spawning time, causality appeared reversed for males whereby maturation affected growth negatively and condition positively via both the environmental and genetic effects. Altogether, the results indicate that growth and condition are useful traits to study liability for maturation initiation, but only until maturation alters their expression, and that vgll3 contributes to maturation initiation via condition.Peer reviewe

Cis-regulatory differences in isoform expression associate with life history strategy variation in Atlantic salmon

A major goal in biology is to understand how evolution shapes variation in individual life histories. Genome-wide association studies have been successful in uncovering genome regions linked with traits underlying life history variation in a range of species. However, lack of functional studies of the discovered genotype-phenotype associations severely restrains our understanding how alternative life history traits evolved and are mediated at the molecular level. Here, we report acis-regulatory mechanism whereby expression of alternative isoforms of the transcription co-factorvestigial-like 3(vgll3) associate with variation in a key life history trait, age at maturity, in Atlantic salmon (Salmo salar). Using a common-garden experiment, we first show thatvgll3genotype associates with puberty timing in one-year-old salmon males. By way of temporal sampling ofvgll3expression in ten tissues across the first year of salmon development, we identify a pubertal transition invgll3expression where maturation coincided with a 66% reduction in testicularvgll3expression. Thelatematuration allele was not only associated with a tendency to delay puberty, but also with expression of a rare transcript isoform ofvgll3pre-puberty. By comparing absolutevgll3mRNA copies in heterozygotes we show that the expression difference between theearlyandlatematurity alleles is largelycis-regulatory. We propose a model whereby expression of a rare isoform from thelateallele shifts the liability of its carriers towards delaying puberty. These results exemplify the potential importance of regulatory differences as a mechanism for the evolution of life history traits. Author summary Alternative life history strategies are an important source of diversity within populations and promote the maintenance of adaptive capacity and population resilience. However, in many cases the molecular basis of different life history strategies remains elusive. Age at maturity is a key adaptive life history trait in Atlantic salmon and has a relatively simple genetic basis. Using salmon age at maturity as a model, we report a mechanism whereby different transcript isoforms of the key age at maturity gene,vestigial-like 3(vgll3), associate with variation in the timing of male puberty. Our results show how gene regulatory differences in conjunction with variation in gene transcript structure can encode for complex alternative life histories.Peer reviewe

Transcriptome Analysis Reveals Signature of Adaptation to Landscape Fragmentation

Peer reviewe

Improved chromosome-level genome assembly of the Glanville fritillary butterfly (Melitaea cinxia) integrating Pacific Biosciences long reads and a high-density linkage map

Background The Glanville fritillary (Melitaea cinxia) butterfly is a model system for metapopulation dynamics research in fragmented landscapes. Here, we provide a chromosome-level assembly of the butterfly's genome produced from Pacific Biosciences sequencing of a pool of males, combined with a linkage map from population crosses. Results The final assembly size of 484 Mb is an increase of 94 Mb on the previously published genome. Estimation of the completeness of the genome with BUSCO indicates that the genome contains 92-94% of the BUSCO genes in complete and single copies. We predicted 14,810 genes using the MAKER pipeline and manually curated 1,232 of these gene models. Conclusions The genome and its annotated gene models are a valuable resource for future comparative genomics, molecular biology, transcriptome, and genetics studies on this species.Peer reviewe