Áhrif tálmunar á umgengni við börn á andlega og líkamlega heilsu foreldra : rannsóknaráætlun

Þessi rannsóknaráætlun er lokaverkefni til BS prófs í hjúkrunarfræði við Háskólann á Akureyri. Foreldraútilokun er ferli eða sálfræðilegt ástand þar sem barn styður sterklega foreldri sem beitir útilokunaraðferðum og hafnar sambandi við hitt foreldrið án réttmætrar ástæðu. Algeng foreldraútilokunaraðferð er tálmun á umgengni við barnið. Fáar rannsóknir hafa rannsakað áhrif foreldraútilokunar á heilsu og lífsgæði hafnaðra foreldra. Á Íslandi er algengi foreldraútilokunar óþekkt og áhrifin sem það hefur á foreldra hefur lítið sem ekkert verið rannsakað. Í fyrirhugaðri rannsókn er áætlað að úrtakið samanstandi af foreldrum sem eru þolendur foreldraútilokunar án lögmætrar ástæðu. Aðferðafræði rannsóknarinnar er tvíþætt, annars vegar megindleg og hins vegar eigindleg. Meginrannsóknarspurningarnar eru tvær: 1. Hefur hindrun á sambandi milli barns og foreldris í formi tálmunar á umgengni við barn áhrif á andlega og líkamlega heilsu foreldra sem eru þolendur þess. 2. Hefur tálmun á umgengni við barn áhrif á lífsgæði foreldra sem eru þolendur? Notast verður við sjálfsmatskvarðann Short Form (36) Health Survey í megindlega hluta rannsóknarinnar og tekin verða einstaklingsviðtöl við foreldra í eigindlega hlutanum. Niðurstöður rannsóknarinnar gætu nýst til þróunar á fræðslu fyrir hjúkrunarfræðinga um einkenni og afleiðingar foreldraútilokunar á þolendur og börn sem getur birst í andlegum og líkamlegum sjúkdómseinkennum. Lykilhugtök: Heilsa, hjúkrun, fjölskylda, skilnaður, lögheimilisforeldri, umgengnisforeldri, foreldraútilokun, tálmun á umgengni.This research proposal is a dissertation towards a B. S. degree in nursing at the University of Akureyri. Parental alienation (PA) is the psychological condition or the process itself in which a child supports strongly an actively alienating parent and rejects the relationship with the other parent without legitimate justification. One common PA method is limitation of visitation and contact with the child. Few studies have surveyed the effects of PA on the health and quality of life of rejected parents. In Iceland the PA prevalence is unknown and its effects on rejected parents is poorly investigated. In this proposed research the sample will be parents who have suffered limitation of visitation and contact with their children without legitimate reason. The methodology is twofold, quantitative and qualitative. There are two main research questions: 1. Do decreased frequency of visitation and contact with their children have effects on the mental and physical health of the targeted parent? 2. Do decreased frequency of visitation and contact with their children have effects on the quality of life of the targeted parents? The Short Form (36) Health Survey, a self-evaluation scale, will be used in the quantitative part of this study and individual interviews with parents suffering from PA will be conducted in the qualitative part. Study results might be used in developing education for nurses about the physical and mental symptoms and consequences of PA on sufferers and children. Key concepts: Health, Nursing, family, divorce, custody parent, non-resident parent, parental alienation, interference with visitation

Genetics of gene expression and its effect on disease

To access publisher full text version of this article. Please click on the hyperlink in Additional Links fieldCommon human diseases result from the interplay of many genes and environmental factors. Therefore, a more integrative biology approach is needed to unravel the complexity and causes of such diseases. To elucidate the complexity of common human diseases such as obesity, we have analysed the expression of 23,720 transcripts in large population-based blood and adipose tissue cohorts comprehensively assessed for various phenotypes, including traits related to clinical obesity. In contrast to the blood expression profiles, we observed a marked correlation between gene expression in adipose tissue and obesity-related traits. Genome-wide linkage and association mapping revealed a highly significant genetic component to gene expression traits, including a strong genetic effect of proximal (cis) signals, with 50% of the cis signals overlapping between the two tissues profiled. Here we demonstrate an extensive transcriptional network constructed from the human adipose data that exhibits significant overlap with similar network modules constructed from mouse adipose data. A core network module in humans and mice was identified that is enriched for genes involved in the inflammatory and immune response and has been found to be causally associated to obesity-related traits

Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits

To access publisher full text version of this article. Please click on the hyperlink in Additional Links fieldTo search for new sequence variants that confer risk of cutaneous basal cell carcinoma (BCC), we conducted a genome-wide SNP association study of 930 Icelanders with BCC and 33,117 controls. After analyzing 304,083 SNPs, we observed signals from loci at 1p36 and 1q42, and replicated these associations in additional sample sets from Iceland and Eastern Europe. Overall, the most significant signals were from rs7538876 on 1p36 (OR = 1.28, P = 4.4 x 10(-12)) and rs801114 on 1q42 (OR = 1.28, P = 5.9 x 10(-12)). The 1p36 locus contains the candidate genes PADI4, PADI6, RCC2 and ARHGEF10L, and the gene nearest to the 1q42 locus is the ras-homolog RHOU. Neither locus was associated with fair pigmentation traits that are known risk factors for BCC, and no risk was observed for melanoma. Approximately 1.6% of individuals of European ancestry are homozygous for both variants, and their estimated risk of BCC is 2.68 times that of noncarriers

Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer.

Contains fulltext : 52079.pdf (publisher's version ) (Closed access)Familial clustering studies indicate that breast cancer risk has a substantial genetic component. To identify new breast cancer risk variants, we genotyped approximately 300,000 SNPs in 1,600 Icelandic individuals with breast cancer and 11,563 controls using the Illumina Hap300 platform. We then tested selected SNPs in five replication sample sets. Overall, we studied 4,554 affected individuals and 17,577 controls. Two SNPs consistently associated with breast cancer: approximately 25% of individuals of European descent are homozygous for allele A of rs13387042 on chromosome 2q35 and have an estimated 1.44-fold greater risk than noncarriers, and for allele T of rs3803662 on 16q12, about 7% are homozygous and have a 1.64-fold greater risk. Risk from both alleles was confined to estrogen receptor-positive tumors. At present, no genes have been identified in the linkage disequilibrium block containing rs13387042. rs3803662 is near the 5' end of TNRC9 , a high mobility group chromatin-associated protein whose expression is implicated in breast cancer metastasis to bone

Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24.

Contains fulltext : 51723.pdf (publisher's version ) (Closed access)Prostate cancer is the most prevalent noncutaneous cancer in males in developed regions, with African American men having among the highest worldwide incidence and mortality rates. Here we report a second genetic variant in the 8q24 region that, in conjunction with another variant we recently discovered, accounts for about 11%-13% of prostate cancer cases in individuals of European descent and 31% of cases in African Americans. We made the current discovery through a genome-wide association scan of 1,453 affected Icelandic individuals and 3,064 controls using the Illumina HumanHap300 BeadChip followed by four replication studies. A key step in the discovery was the construction of a 14-SNP haplotype that efficiently tags a relatively uncommon (2%-4%) susceptibility variant in individuals of European descent that happens to be very common (approximately 42%) in African Americans. The newly identified variant shows a stronger association with affected individuals who have an earlier age at diagnosis

Sequence variant on 8q24 confers susceptibility to urinary bladder cancer.

Contains fulltext : 71044.pdf (publisher's version ) (Closed access)We conducted a genome-wide SNP association study on 1,803 urinary bladder cancer (UBC) cases and 34,336 controls from Iceland and The Netherlands and follow up studies in seven additional case-control groups (2,165 cases and 3,800 controls). The strongest association was observed with allele T of rs9642880 on chromosome 8q24, 30 kb upstream of MYC (allele-specific odds ratio (OR) = 1.22; P = 9.34 x 10(-12)). Approximately 20% of individuals of European ancestry are homozygous for rs9642880[T], and their estimated risk of developing UBC is 1.49 times that of noncarriers. No association was observed between UBC and the four 8q24 variants previously associated with prostate, colorectal and breast cancers, nor did rs9642880 associate with any of these three cancers. A weaker signal, but nonetheless of genome-wide significance, was captured by rs710521[A] located near TP63 on chromosome 3q28 (allele-specific OR = 1.19; P = 1. 15 x 10(-7))

Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm

We performed a genome-wide association study on 1,292 individuals with abdominal aortic aneurysms (AAAs) and 30,503 controls from Iceland and The Netherlands, with a follow-up of top markers in up to 3,267 individuals with AAAs and 7,451 controls. The A allele of rs7025486 on 9q33 was found to associate with AAA, with an odds ratio (OR) of 1.21 and P = 4.6 x 10(-10). In tests for association with other vascular diseases, we found that rs7025486[A] is associated with early onset myocardial infarction (OR = 1.18, P = 3.1 x 10(-5)), peripheral arterial disease (OR = 1.14, P = 3.9 x 10(-5)) and pulmonary embolism (OR = 1.20, P = 0.00030), but not with intracranial aneurysm or ischemic stroke. No association was observed between rs7025486[A] and common risk factors for arterial and venous diseases-that is, smoking, lipid levels, obesity, type 2 diabetes and hypertension. Rs7025486 is located within DAB2IP, which encodes an inhibitor of cell growth and survival