SNP effects depend on genetic and environmental context

Effects that are estimated for SNP markers depend on LD with the QTL, and interactions of the QTL with other genetic and environmental factors. These factors are often mentioned but rarely studied. Breeding for crossbred performance both brings the need and supplies data for studying these interactions. SNPs with different effects on litter size in pigs between low and high production environments were identified from a genomic reaction norm model. Clustering of these SNPs lead to candidate genes related to bacterial defense that are expressed in reproductive tracts and regulated by the estrous cycle. To study interaction of SNPs with genetic background, a method to determine breed origin of alleles in crossbreds was implemented using long range phasing with AlphaPhase software. With more genotypes and phenotypes on crossbreds, estimation of interactions with genetic background and the environment will become feasible

Flexibelt foto : användningen av läromedel i gymnasieskolans kurser i fotografisk bild

Detta examensarbete är en studie som handlar om läromedel och läromedelsanvändning i undervisningen i gymnasieskolans kurser i Fotografisk bild. Examensarbetet är av alternativ art och innehåller två delar. Dels en skriftlig rapport om användningen av läromedel, och dels ett eget framställt digitalt läromedel avsett för dessa kurser. Syftet med studien var att undersöka huruvida vissa observationer i de praktisk estetiska ämnena stärks; som till exempel att lärare sällan eller aldrig använder läromedel, samt vad detta i så fall kan bero på. Jag ville även utreda vilka attityder elever och lärare hade kring dessa frågor samt hur man ser på datorn som hjälpmedel i undervisningen i Foto. Resultaten från mina intervjuer bekräftade många av de förutfattade meningar jag haft sedan tidigare. De lärare jag haft kontakt med använder i princip inte tryckta läromedel, både av ekonomiska och pedagogiska skäl. De har däremot börjat anamma den digitala tekniken mer och mer, och datorn är idag en naturlig del av undervisningen. Det digitala läromedel som jag utvecklat fick ett gott mottagande av såväl elever som lärare

Active caspase-3 expression levels as bioindicator of individual radiosensitivity

ABSTRACT Several molecules and events involved in cell response to radiation-induced damage have been investigated towards a personalized radiotherapy. Considering the importance of active caspase-3 in the proteolytic cascade that ensures radiation-induced apoptosis execution, this research was designed to evaluate the expression levels of this protein as a bioindicator of individual radiosensitivity. Peripheral blood samples of 10 healthy individuals were gamma-irradiated (cobalt-60 source) with 1, 2 and 4 Gy (control: non-irradiated samples), and active caspase-3 expression levels were measured in lymphocytes, by flow cytometry, ex vivo and after different times of in vitro incubation (24, 48 and 72 hours). Short-term incubation of 24 h was the most adequate condition to evidence correlations between dose radiation and active caspase-3 expression. For each radiation dose, it was observed a significant inter-individual variation in active caspase-3 expression intensity, suggesting that this parameter may be suitable for evidence individual radiosensitivity. The methodology presented and discussed in this work may help to predict healthy tissues response to radiation exposure toward the better patient outcome

Individual variation is the key to the development of a vaccine against Staphylococcus aureus: a comparative study between mice lineages

Bacterial infections occur worldwide and are a major public health problem. Among pathogens, Staphylococcus aureus is the main causative agent of bacterial diseases in the world. This study aimed to evaluate which components of the immune system could act protectively against a S. aureus infection in intradermally immunized mice. C57BL/6 and A/j mice were immunized intradermally with S. aureus inactivated by heat and then challenged with viable strains in an air pouch model. At 6, 12, and 24 h after the challenge, euthanasia was performed, and the cellular profile of the inflammatory infiltrate, cytokines, and the bacterial load were evaluated in the air pouch lavages. Immunized mice demonstrated that the intradermal immunization with S. aureus promoted protection in C57BL/6 mice by reducing the bacterial, which was correlated with increased serum concentration of IgG antibodies (IgG1 and IgG2a) against S. aureus. The increase in IgG2a antibody levels was correlated with a decrease of bacterial load in intradermally immunized C57BL/6 mice, along with production of IL-17A at the inflammation site, as well as IgG1consumption. Similar results were not found in the A/j lineage. In conclusion, a vaccine against S. aureus should focus more on the individual characteristics of the host because it is a determinant factor for the success of the immunization

Uveitis In Childhood-onset Systemic Lupus Erythematosus Patients: A Multicenter Survey

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)The aim of this study is to assess uveitis prevalence in a large cohort of childhood-onset systemic lupus erythematosus (cSLE) patients. A retrospective multicenter cohort study including 852 cSLE patients was performed in ten pediatric rheumatology centers (Brazilian cSLE group). An investigator meeting was held and all participants received database training. Uveitis was diagnosed through clinical assessment by the uveitis expert ophthalmologist of each center. Patients with and without uveitis were assessed for lupus clinical/laboratory features and treatments. Uveitis was observed in 7/852 cSLE patients (0.8%). Two of them had ocular complications: cataract and irreversible blindness in one patient and retinal ischemia with subsequent neovascularization and unilateral blindness in another. Uveitis was identified within the first 6 months of cSLE diagnosis in 6/7 patients (86%). Comparison of a subgroup of cSLE patients with (n = 7) and without uveitis (n = 73) and similar length of disease duration showed that patients with uveitis had increased SLEDAI-2K score (19 vs. 6; p < 0.01). In addition, fever (71 vs. 12%; p < 0.01), lymphadenopathy (29 vs. 1.4%; p = 0.02), arthritis (43 vs. 7%; p = 0.02), and use of intravenous methylprednisolone (71 vs. 22%; p = 0.01) were higher in cSLE patients with uveitis, as compared to those without this manifestation, respectively. Presence of fever was significantly associated with uveitis, independently of SLEDAI scores or use of intravenous methylprednisolone pulses, as shown by adjusted regression analysis (adjusted prevalence ratio 35.7, 95% CI 2.4–519.6; p < 0.01). Uveitis was a rare and initial manifestation of active cSLE patients. Early recognition is essential due to the possibility of irreversible blindness. © 2017, International League of Associations for Rheumatology (ILAR).363547553309520/2012-6, CNPq, Conselho Nacional de Desenvolvimento Científico e TecnológicoConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq