Bakgrund: Ca 1–2 procent av alla kvinnor beräknas någon gång under livet uppfylla kriterierna för anorexia nervosa. Sjukdomen, som innebär en kraftigt förhöjd mortalitetsrisk och kan ge allvarliga kroppsliga och psykiska komplikationer på längre sikt, blir ofta uppenbar någon gång under tonåren. Idag råder uppfattningen att barn och ungdomar med anorexia nervosa eller annan ätstörningsproblematik så långt som möjligt bör vårdas tillsammans med sina   föräldrar. På senare år har olika typer av familjebaserad vård, där föräldrarna tilldelas en central roll som drivande i barnets tillfrisknande, blivit allt vanligare i takt med att evidensen för denna form av ätstörningsvård ökat. Forskning har vidare visat att det innebär en stor påfrestning för övriga familjemedlemmar när ett barn insjuknar i en ätstörning. Utifrån detta vore det värdefullt att få en fördjupad kunskap om vilka erfarenheter föräldrar har av att delta i familjebaserad ätstörningsvård. Ett antal kvalitativa studier finns genomförda på området men sammanställd kunskap saknas i dagsläget. Syfte: Syftet med föreliggande litteraturstudie var att undersöka vilka erfarenheter föräldrar har av att delta i familjebaserad ätstörningsvård. Metod: Kvalitativ litteraturstudie som genomförts enligt Thomas och Hardens (2008) modell för   tematisk syntes av kvalitativ forskning. Resultat: Studien resulterade i fyra deskriptiva teman; Upplevelse av den familjebaserade   ätstörningsvårdens upplägg, Förändring av förhållandet till ätstörningen, Förändringar inom familjen, Att träffa andra i samma situation samt tre analytiska teman; Minskad ensamhet, Att känna sig misslyckad och dömd som förälder samt Att känna att man gör det rätta för sitt barn. Diskussion: Resultatet diskuterades utifrån Dorothea Orems teori om egenvårdsbalans samt i relation   till annan aktuell forskning som berör familjebaserad vård och ätstörningar hos barn och ungdomar. / Background: About 1-2 percent of all women fulfil the criteria for anorexia nervosa at some point of their life. The disorder, which entails elevated mortality and might result in serious somatic and   psychiatric long-term complications, often becomes apparent during the teenage years. Today, the prevailing view is that children and youths with eating disorders should be treated together with their parents as far as possible. During the last decade different types of family-based care, were the parents play a central role in their child's recovery, have become more common in step with growing research evidence. Research has also shown how an eating disorder in a child causes a big strain on the rest of the family members. Regarding this, it would be valuable to achieve deeper knowledge about parents’ experiences of engaging in family-based eating disorder care.  A number of qualitative studies concerning this topic exists, but more compiled knowledge is still missing. Aim: The aim of the study was to investigate parents’ experiences of engaging in family-based eating disorder care. Method: A qualitative literature review on the subject was conducted according to Thomas and Hardens (2008) model of thematic synthesis of qualitative research. Results: The study resulted in four descriptive themes; The experience of the setup of the family-based eating disorder care, A change in the approach to the eating disorder, Changes within the family and To meet other parents in the same situation and three analytic themes; To feel less alone, To experience failure and feel judged as a parent and To feel confident that you are doing the right thing for your child. Discussion: The findings were discussed based on Dorothea Orem’s self-care-deficit theory and in relation to other relevant research concerning family-based care and eating disorders in children and youths.

The present research aimed at analyzing the roles of multifunctional family-based agriculture in the landscape, considering the city of Campina das Missões as the locus of this research. It was proposed the study of several aspects in the economic exploitation of land used for family agriculture, being adopted the line of epistemology as the methodology for the qualitative research at the city level. Being so, this research was grounded in a critical, dialectical, theoretical and methodological approach, as it was the most suitable for conducting the study proposed. The main reason that took the citizens of Campina das Missões to modify the landscape of this locus over the years is the need to increase their family income and to improve living condition. Changes in the natural dynamics of elements in the landscape interfering in the natural resources can be added up to that as well. So, different stages in this process were marked by alterations affecting the environment, both positively and negatively. However, the third stage, guided by the modernization of agriculture, set significant changes in the environment. Therefore, the cultural knowledge adopted is a way to improve the family income, without leaving aside the agricultural and livestock production, at least in a subsistence level. Nevertheless, many family farmers are investing in other areas, and being adopted the multifunctionality, they turn themselves to the cultural knowledge to add value to the production and promote the reorganizations and transformation of local landscape. / A presente pesquisa teve como objetivo principal analisar os papéis da multifuncionalidade da agricultura familiar na paisagem, considerando como lócus o município de Campina das Missões - RS. A proposta teve, como estudo a diversidade de exploração econômica da terra pela propriedade familiar adotando-se a base metodológica da epistemologia com apoio no procedimento de investigação qualitativo em uma escala de dimensão municipal, Campina das Missões, RS. Assim, a pesquisa segue o aporte teórico-metodológico crítico-dialético, como caminho de orientação da investigação por revelar-se o mais adequado na condução dos estudos propostos. O principal motivo que levou os Campinenses a modificarem a paisagem deste lócus, no decorrer dos anos, decorre das necessidades de aumento da renda familiar e de melhoria de condições de vida. Agregado a estes fatores, alterações da dinâmica natural dos elementos que compõe a paisagem interferindo nos recursos naturais. Assim, os diferentes estágios deste processo de modificação foram marcados por alterações que interferiram no meio, tanto positiva como negativamente. Contudo, o terceiro estágio orientado pela modernização da agricultura provocou mudanças ambientais significativas. Como consequência, os saberes culturais estão sendo adotados como perspectiva de melhoria das condições de renda familiar, sem deixar de lado a produção agrícola e pecuária, pelo menos para a subsistência. No entanto, muitos agricultores familiares estão investindo em outras funções, e, com a adoção da multifuncionalidade recorrem ao saber cultural para agregar valor a produção, e promovem a reorganização e transformação da paisagem local.

This thesis examines aspects of adolescent family mealtimes and psychopathology among both non-clinical (adolescents and mothers of adolescents) and clinical (adolescents with anorexia nervosa (AN)) samples. It contains seven studies employing quantitative methodology, which address three broad aims. First, to examine relationships between aspects of family mealtimes and psychopathology among adolescents. Second, to examine links between family mealtime emotions and psychopathology among mothers of adolescents. Finally, to examine associations between specific parental mealtime interactions and adolescent outcomes during a therapeutic meal session for adolescents with AN. Self-report questionnaires were completed by non-clinical adolescents and mothers of adolescents to examine associations between characteristics of family mealtimes (mealtime environment, mealtime emotions and parental feeding practices) and eating psychopathology, anxiety and depression. In addition, observational analyses were conducted on recordings of the family meal session (session two) of Family-Based Treatment (FBT) for adolescent AN. Key findings from this research include: identifying a new factor structure for the Eating Disorders Examination Questionnaire when used in research with adolescents; developing a measure to assess mealtime emotions in both adolescents and their parents; and, identifying the feeding strategies used by parents of adolescents with AN during the family meal session of FBT. Overall, the findings reported on in this thesis suggest that family mealtimes may have an important protective role in adolescent psychopathology. In addition to providing frequent family mealtimes, families should be encouraged to concentrate on the positivity of the mealtime environment and emotional experience, which may help to promote psychological well-being, and lower levels of eating psychopathology among adolescents. In relation to family mealtimes within adolescent AN, the findings increase understanding of the types of mealtime strategies parents use with their adolescent child to encourage food consumption during the family meal session of FBT. Furthermore, the research findings highlight that certain strategies may be effective in promoting eating during the session and weight gain later on in treatment. Consequently, such findings might provide a focus for therapists when supporting and coaching parents during the family meal session.

Made available in DSpace on 2014-08-20T14:33:04Z (GMT). No. of bitstreams: 1 tese_ernesto_alvaro_martinez.pdf: 4370262 bytes, checksum: f11337dcef7dff3ecd1570d9f34bb90a (MD5) Previous issue date: 2013-08-28 / Currently humanity has sought more harmonious processes of social, environmental and economic reproduction to produce goods and services. The approach of Environmental Services has sought to value the benefits that are often imperceptible to society, such as the regulation of gases, scenic beauty, biodiversity conservation, protection of soils, regulation of water functions, food supply, among others. In this context, the family-based agriculture has a key role, presenting itself as a category that can provide an important contribution to this challenge. This study aimed to determine which and how the environmental services offered by agroecosystems from different agricultures contribute to sustainable agricultural development. Through a methodology that predicted the observation of environmental perception of farmers, the characterization of agroecosystems, and even the participatory construction of environmental quality indicators, it was possible to measure the level of supply of these agroecosystems. It was found that different models of family-based agriculture in southern RS, contribute with a good supply of environmental services, as follows: the conservation and improvement of the soil, observed in management practices; the maintenance of biodiversity through the preservation of wild species; regulation of climatic conditions, related to the conservation of areas of natural vegetation, food supply, from a considerable diversity; in addition to the socio-cultural reproduction through customs and traditions related to good relationship with natural resources. / Atualmente a humanidade tem buscado processos mais harmoniosos de reprodução social, ambiental e econômica para a produção de bens e serviços. A abordagem dos Serviços Ambientais tem procurado valorar os benefícios que muitas vezes são imperceptíveis para a sociedade, tais como a regulação de gases, belezas cênicas, conservação da biodiversidade, proteção de solos, regulação das funções hídricas, fornecimento de alimentos, entre outros. Neste contexto, a agricultura de base familiar tem papel fundamental, apresentando-se como uma categoria capaz de prover importante contribuição para este desafio. Este trabalho teve por objetivo verificar quais e como os serviços ambientais ofertados por agroecossistemas de diferentes agriculturas contribuem para o desenvolvimento agrícola sustentável. Através de uma metodologia que previu a observação da percepção ambiental dos agricultores, a caracterização dos agroecossistemas, e ainda a construção participativa dos indicadores de qualidade ambiental, foi possível mensurar o nível de oferta destes agroecossistemas. Pôde-se constatar que os diferentes modelos de agricultura de base familiar da região sul do RS, contribuem com uma boa oferta de serviços ambientais. Sendo: a conservação e melhoria do solo, verificado nas práticas de manejo; a manutenção da biodiversidade, através da preservação das espécies silvestres; a regulação das condições climáticas, relacionada à conservação de áreas de vegetação natural; o fornecimento de alimentos, a partir de uma considerável diversidade; além da reprodução sócio-cultural, através de costumes e tradições vinculadas a boa convivência com os recursos naturais.

Twin and family studies have shown that genetic factors play a role in the development of conduct disorder (CD). The purpose of this study was to identify genetic variants associated with CD using a family-based association study. We used 4,720 single nucleotide polymorphisms (SNPs) from the Illumina Panel and 11,120 SNPs from the Affymetrix 10K GeneChips genotyped in 155 Caucasian nuclear families from Genetic Analysis Workshop (GAW) 14, a subset from the Collaborative Study on the Genetics of Alcoholism (COGA). 20 SNPs had suggestive associations with CD (p∈<∈10-3), nine of which were located in known genes, including ADAM10 (rs383902, p=0.00036) and CAMK2A (rs2053053, p=0.00098). Our results were verified using the International Multi-Center ADHD Genetics Project (IMAGE) dataset. In conclusion, we identified several loci associated with CD. Especially, the two genes (ADAM10 and CAMK2A) have been reported to be associated with Alzheimer's disease, bipolar disorder and depression. These findings may serve as a resource for replication in other populations.

Family, twin, and adoption studies have indicated that human intelligence quotient (IQ) has significant genetic components. We performed a low-density genome-wide association analysis with a family-based association test to identify genetic variants influencing IQ, as measured by Wechsler Adult Intelligence Scale full-score IQ (FSIQ). We examined 11,120 single-nucleotide polymorphisms (SNPs) from the Affymetrix GeneChips 10K mapping array genotyped in 292 nuclear families from Genetic Analysis Workshop 14, a subset from the Collaborative Study on the Genetics of Alcoholism (COGA). A replication analysis was performed using part of International Multi-Center ADHD Genetics Project (IMAGE) dataset. Twenty-two SNPs were identified as having suggestive associations with IQ (p<10-3) in the COGA sample and eleven of the SNPs were located within known genes. In particular, NTM at 11q25 (rs411280, p=0.000764) and NR3C2 at 4q31.1 (rs3846329, p=0.000675) were two novel genes which have not been associated with IQ in other studies. It has been reported that NTM might play a role in late-onset Alzheimer disease while NR3C2 may be associated with cognitive function and major depression. The associations of these two genes were well-replicated by single-marker and haplotype analyses in the IMAGE sample. In conclusion, our findings provide evidence that chromosome regions of 11q25 and 4q31.1 contain genes affecting IQ. This study will serve as a resource for replication in other populations.

The MAPT gene has been shown to be associated with several neurodegenerative disorders, including forms of parkinsonism and Parkinson disease (PD), but the results reveal population differences. We investigated the association of 10 single-nucleotide polymorphisms (SNPs) in the region of MAPT on chromosome 17q21 with PD and age at onset, by using 443 discordant sib pairs in PD from a public dataset (Mayo-Perlegen LEAPS Collaboration). Association with PD was assessed by the FBAT using generalized estimating equations (FBAT-GEE), while the association with age at onset as a quantitative trait was evaluated using the FBAT-logrank statistic. Five SNPs were significantly associated with PD (P < 0.05) in an additive model, and 9 SNPs were associated with PD (P < 0.05) in dominant and recessive models. Interestingly, 8 PD-associated SNPs were also associated with age at onset of PD (P < 0.05) in dominant and recessive models. The SNP most significantly associated with PD and age at onset was rs17649641 (P = 0.015 and 0.021, respectively). Two-SNP haplotypes inferred from rs17563965 and rs17649641 also showed association with PD (P = 0.018) and age at onset (P = 0.026). These results provide further support for the role of MAPT in development of PD.

The neuron navigator 2 (NAV2) gene is highly expressed in brain and involved in the nervous system development and may play a role in Alzheimer's disease (AD). We aimed to investigate the associations of 317 single-nucleotide polymorphisms (SNPs) in the NAV2 gene with the risk and age at onset (AAO) of AD using a family-based sample (1266 AD cases and 1279 healthy relatives). Association with the risk of AD was assessed using family-based association test -generalized estimating equations (FBAT- GEE) statistics while the association with AAO as a quantitative trait was evaluated using the FBAT-Wilcoxon statistic. Single marker analysis showed that 20 SNPs were significantly associated with the risk of AD (top SNP rs7112354 with p = 8.46 × 10− 4) and 11 SNPs were associated with AAO (top SNP rs1354269 with p = 2.87 × 10− 3). Interestingly, two SNPs rs17614100 and rs12364788 were associated with both the risk (p = 1.7 × 10− 2 and 2.71 × 10− 2; respectively) and AAO (p = 1.85 × 10− 3 and 6.06 × 10− 3; respectively). Haplotype analyses further supported the results of single marker analyses. In addition, functional analysis showed that NAV2 mRNA had significant expression across ten human brain regions examined and significantly correlated with APOE expression in four of ten regions. The present study is the first study providing evidence of several genetic variants within the NAV2 gene influencing the risk and AAO of AD.

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