När visioner ställs mot principer - en rapport från arbetet med att utforma en ämnes- och lärosätesövergripande nätutbildning

Utveckling av breddmagisterprogrammet Teamarbete i hemvård har skett som ett projekt med stöd från myndigheten för Sveriges nätuniversitet. Avsikten med utbildningen var skapa förutsättningar för teamarbete i omsorg, vård och rehabilitering av äldre personer och personer med funktionshinder. Behov av denna slags utbildning hade tidigare uttryckts i utredningen om sammanhållen hemvård. Där påtalades bland annat vikten av att arbeta tvärprofessionellt i omsorg, vård och rehabilitering av äldre personer och personer med funktionshinder. Utbildningen har framför allt inriktats på att träna perspektivmedvetenhet genom att jämföra och kontrastera synpunkter hos äldre personer/personer med funktionshinder, närstående och personal med olika yrkesbakgrund inom omsorg och vård. Att samverka mellan lärosäten innebar många oväntade hinder och svårigheter. Olika lärosäten hade skilda rutiner, olika sätt att tolka regelverk, olika sätt att se på lärande och kunskap och använde olika lärplattformar. I rapporten ges en närmare beskrivning av hinder och hur dessa har hanterats. Casemetodik har fungerat som ett pedagogiskt redskap för att träna perspektiv- medvetenhet och förståelse för brukarens perspektiv. Genom att konsekvent bygga upp en utbildning utifrån människors berättelser och genom att arbeta med dem strukturerat var avsikten att ge studenterna ett redskap som de kan använda i sin egen handledning av team. Även om hindren varit många har det funnits uppenbara vinster med att samarbeta mellan olika discipliner och mellan lärosäten. När människor med olika bakgrund kommer samman finns det mycket att lära av varandra. Detta gäller oavsett om samverkan sker i team inom omsorg vård och rehabilitering eller mellan lärare från olika lärosäten och med olika yrkesbakgrund

Older people in persistent pain: nursing and paramedical staff perceptions and pain management.

Background. Persistent pain is a common problem for older people. Knowledge about how nursing and paramedical staff perceive these people and what they do to relieve the pain seems scarce. Aim. To explore nursing and paramedical staff perceptions of older people in persistent pain and their day-to-day management of pain. Methods. Interviews in Swedish with 52 nursing auxiliaries, Registered Nurses, physiotherapists and occupational therapists were collected from February to May 2000. The analysis was based on their stories (n = 150) about older people in persistent pain who received help in their own homes or in special accommodation. A typology of staff perceptions of pain in older people was developed. Activities to manage pain were examined using content analysis. Results. Respondents perceived the pain as real, exaggerated, trivial, care-related, endured, concealed, self-caused or inarticulate. Older people perceived as exaggerating the pain, those with care-related and self-caused pain evoked frustration in the staff, while those perceived as enduring their pain evoked satisfaction. Various strategies to manage pain were used: no activity, medication, mediating contacts, distracting activities, physical therapies, mobility, work in a gentle way, rest or relieving pressure on body part, and communication concerning pain. The activities differed between the types, as well as between staff with different professional backgrounds. Conclusion. Care and treatment provided by staff should be based on older people's needs rather than on staff attitudes and preferences. The typology revealed that staff perceived older people in pain as a heterogeneous group and that their perceptions affected the pain-relieving activities that were offered. It seems urgent to address how to handle pain in older people who never complain and those who complain a great deal, as well as how to handle pain in people with impaired communicative ability. Reflective discussions on feelings related to different individuals are needed

Living with persistent pain: experiences of older people receiving home care.

Background. Although the topic of pain among older people has received increasing interest, little is still known about how pain is experienced or handled by those who no longer manage independently but depend on professionals for help with daily living. Developing pain management for older people requires such knowledge. Aim. To explore sense of self, sense of pain, daily living with pain, sense of others and ways of handling pain in older people with persistent pain. Methods. Interviews with 90 older people receiving home care from nursing auxiliaries in their own homes or in sheltered accommodation were collected from January to June 2000. A typology of older people in persistent pain was developed. Activities for handling pain were examined using content analysis. Findings. Respondents' experiences of themselves and their pain varied. Two groups of older people, considered as 'competent and proud' and 'confident and serene', expressed satisfaction in spite of pain, while the groups 'misunderstood and disappointed' and 'resigned and sad' expressed dissatisfaction. The most common strategies used were medication, rest, mobility, distracting activities and talking about pain. Respondents chose strategies by balancing the advantages of the activities against the disadvantages these brought for their daily living. Conclusion. This study indicates that characteristics of the older people, such as their way of experiencing themselves, how pain affects their daily life and how they perceive effects and side-effects of pain management are areas that need to be identified when staff assess pain and plan pain management. Caring for older people in pain could be improved by listening to and believing their complaints, evaluating effects and side-effects from medications and nonpharmacological pain management and by emphasising the importance of common everyday activities such as mobility and distraction to relieve pain

Refined histopathological predictors of BRCA1 and BRCA2 mutation status: A large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

Introduction: The distribution of histopathological features of invasive breast tumors in BRCA1 or BRCA2 germline mutation carriers differs from that of individuals with no known mutation. Histopathological features thus have utility for mutation prediction, including statistical modeling to assess pathogenicity of BRCA1 or BRCA2 variants of uncertain clinical significance. We analyzed large pathology datasets accrued by the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) and the Breast Cancer Association Consortium (BCAC) to reassess histopathological predictors of BRCA1 and BRCA2 mutation status, and provide robust likelihood ratio (LR) estimates for statistical modeling. Methods: Selection criteria for study/center inclusion were estrogen receptor (ER) status or grade data available for invasive breast cancer diagnosed younger than 70 years. The dataset included 4,477 BRCA1 mutation carriers, 2,565 BRCA2 mutation carriers, and 47,565 BCAC breast cancer cases. Country-stratified estimates of the

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor α) in 118,816 subjects from three international consortia. We found evidence for at least five independent causal variants, each associated with different phenotype sets, including estrogen receptor (ER(+) or ER(-)) and human ERBB2 (HER2(+) or HER2(-)) tumor subtypes, mammographic density and tumor grade. The best candidate causal variants for ER(-) tumors lie in four separate enhancer elements, and their risk alleles reduce expression of ESR1, RMND1 and CCDC170, whereas the risk alleles of the strongest candidates for the remaining independent causal variant disrupt a silencer element and putatively increase ESR1 and RMND1 expression.This is the author accepted manuscript. The final version is available from Nature Publishing Group via http://dx.doi.org/10.1038/ng.352

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10-20), ER-negative BC (P=1.1 × 10-13), BRCA1-associated BC (P=7.7 × 10-16) and triple negative BC (P-diff=2 × 10-5). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10-3) and ABHD8 (P<2 × 10-3). Chromosome conformation capture identifies interactions between four candidate SNPs and ABHD8, and luciferase assays indicate six risk alleles increased transactivation of the ADHD8 promoter. Targeted deletion of a region containing risk SNP rs56069439 in a putative enhancer induces ANKLE1 downregulation; and mRNA stability assays indicate functional effects for an ANKLE1 3′-UTR SNP. Altogether, these data suggest that multiple SNPs at 19p13 regulate ABHD8 and perhaps ANKLE1 expression, and indicate common mechanisms underlying breast and ovarian cancer risk

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

Introduction: Individuals carrying pathogenic mutations in the BRCA1 and BRCA2 genes have a high lifetime risk of breast cancer. BRCA1 and BRCA2 are involved in DNA double-strand break repair, DNA alterations that can be caused by exposure to reactive oxygen species, a main source of which are mitochondria. Mitochondrial genome variations affect electron transport chain efficiency and reactive oxygen species production. Individuals with different mitochondrial haplogroups differ in their metabolism and sensitivity to oxidative stress. Variability in mitochondrial genetic background can alter reactive oxygen species production, leading to cancer risk. In the present study, we tested the hypothesis that mitochondrial haplogroups modify breast cancer risk in BRCA1/2 mutation carriers. Methods: We genotyped 22,214 (11,421 affected, 10,793 unaffected) mutation carriers belonging to the Consortium of Investigators of Modifiers of BRCA1/2 for 129 mitochondrial polymorphisms using the iCOGS array. Haplogroup inference and association detection were performed using a phylogenetic approach. ALTree was applied to explore the reference mitochondrial evolutionary tree and detect subclades enriched in affected or unaffected individuals. Results: We discovered that subclade T1a1 was depleted in affected BRCA2 mutation carriers compared with the rest of clade T (hazard ratio (HR) = 0.55; 95% confidence interval (CI), 0.34 to 0.88; P = 0.01). Compared with the most frequent haplogroup in the general population (that is, H and T clades), the T1a1 haplogroup has a HR of 0.62 (95% CI, 0.40 to 0.95; P = 0.03). We also identified three potential susceptibility loci, including G13708A/rs28359178, which has demonstrated an inverse association with familial breast cancer risk. Conclusions: This study illustrates how original approaches such as the phylogeny-based method we used can empower classical molecular epidemiological studies aimed at identifying association or risk modification effects.Peer reviewe

Refined histopathological predictors of BRCA1 and BRCA2 mutation status : a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

Abstract Introduction The distribution of histopathological features of invasive breast tumors in BRCA1 or BRCA2 germline mutation carriers differs from that of individuals with no known mutation. Histopathological features thus have utility for mutation prediction, including statistical modeling to assess pathogenicity of BRCA1 or BRCA2 variants of uncertain clinical significance. We analyzed large pathology datasets accrued by the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) and the Breast Cancer Association Consortium (BCAC) to reassess histopathological predictors of BRCA1 and BRCA2 mutation status, and provide robust likelihood ratio (LR) estimates for statistical modeling. Methods Selection criteria for study/center inclusion were estrogen receptor (ER) status or grade data available for invasive breast cancer diagnosed younger than 70 years. The dataset included 4,477 BRCA1 mutation carriers, 2,565 BRCA2 mutation carriers, and 47,565 BCAC breast cancer cases. Country-stratified estimates of the likelihood of mutation status by histopathological markers were derived using a Mantel-Haenszel approach. Results ER-positive phenotype negatively predicted BRCA1 mutation status, irrespective of grade (LRs from 0.08 to 0.90). ER-negative grade 3 histopathology was more predictive of positive BRCA1 mutation status in women 50 years or older (LR = 4.13 (3.70 to 4.62)) versus younger than 50 years (LR = 3.16 (2.96 to 3.37)). For BRCA2, ER-positive grade 3 phenotype modestly predicted positive mutation status irrespective of age (LR = 1.7-fold), whereas ER-negative grade 3 features modestly predicted positive mutation status at 50 years or older (LR = 1.54 (1.27 to 1.88)). Triple-negative tumor status was highly predictive of BRCA1 mutation status for women younger than 50 years (LR = 3.73 (3.43 to 4.05)) and 50 years or older (LR = 4.41 (3.86 to 5.04)), and modestly predictive of positive BRCA2 mutation status in women 50 years or older (LR = 1.79 (1.42 to 2.24)). Conclusions These results refine likelihood-ratio estimates for predicting BRCA1 and BRCA2 mutation status by using commonly measured histopathological features. Age at diagnosis is an important variable for most analyses, and grade is more informative than ER status for BRCA2 mutation carrier prediction. The estimates will improve BRCA1 and BRCA2 variant classification and inform patient mutation testing and clinical management