The Usability of the Preliminary ICF Core Set for Hospitalized Patients After a Hematopoietic Stem Cell Transplantation From the Perspective of Nurses:A Feasibility Study

Background: A hematopoietic stem cell transplantation (HSCT) has a major impact on the functioning and perceived quality of life of patients. To describe the functioning of patients, a preliminary set of 53 categories of the International Classification of Functioning, Disability and Health (ICF) as relevant for HSCT patients has been selected earlier by a Delphi study. For the implementation of this preliminary ICF core set for patients after HSCT in clinical practice, a feasibility study was requested.Methods: A feasibility study was conducted in an explanatory mixed-methods research design. Qualitative data were collected cross-sectionally by semi-structured interviews based on specific topics related to feasibility regarding the use of the preliminary ICF core set for HSCT patients from the perspective of nurses (five in ICF-trained nurses and five regular, untrained, nurses). Quantitative data, were collected longitudinally by using a mobile health application based on ICF in which the ICF trained nurses registered HSCT patients' functioning.Results: Qualitative analysis indicated that using the preliminary ICF core set is practical and acceptable for providing information about the functioning of HSCT patients from the perspective of nurses. In addition, nurses indicated a demand for this information due to its impact on multidisciplinary meetings and clinical decision-making by involving relevant aspects of the functioning of patients. Management support, trained staff, and designated time to focus on functioning are mentioned as requirements for successful implementation. Quantitative analysis demonstrated that the most used 30% (n = 17) ICF categories are included in the preliminary ICF core set for HSCT patients (n = 24). Energy (b130) was the most used ICF category. Family relationships (d760) was the most frequently and highly positively associated ICF category.Conclusions: From the perspective of nurses, the preliminary ICF core set for HSCT patients is feasible and relevant in gaining information regarding functioning. Applying this preliminary ICF core set for HSCT patients in the anamnesis and the nursing consultations contributes to this information. Further research is needed to look at the perspective of other professionals and HSCT patients themselves.</p

The Usability of the Preliminary ICF Core Set for Hospitalized Patients After a Hematopoietic Stem Cell Transplantation From the Perspective of Nurses:A Feasibility Study

Background: A hematopoietic stem cell transplantation (HSCT) has a major impact on the functioning and perceived quality of life of patients. To describe the functioning of patients, a preliminary set of 53 categories of the International Classification of Functioning, Disability and Health (ICF) as relevant for HSCT patients has been selected earlier by a Delphi study. For the implementation of this preliminary ICF core set for patients after HSCT in clinical practice, a feasibility study was requested.Methods: A feasibility study was conducted in an explanatory mixed-methods research design. Qualitative data were collected cross-sectionally by semi-structured interviews based on specific topics related to feasibility regarding the use of the preliminary ICF core set for HSCT patients from the perspective of nurses (five in ICF-trained nurses and five regular, untrained, nurses). Quantitative data, were collected longitudinally by using a mobile health application based on ICF in which the ICF trained nurses registered HSCT patients' functioning.Results: Qualitative analysis indicated that using the preliminary ICF core set is practical and acceptable for providing information about the functioning of HSCT patients from the perspective of nurses. In addition, nurses indicated a demand for this information due to its impact on multidisciplinary meetings and clinical decision-making by involving relevant aspects of the functioning of patients. Management support, trained staff, and designated time to focus on functioning are mentioned as requirements for successful implementation. Quantitative analysis demonstrated that the most used 30% (n = 17) ICF categories are included in the preliminary ICF core set for HSCT patients (n = 24). Energy (b130) was the most used ICF category. Family relationships (d760) was the most frequently and highly positively associated ICF category.Conclusions: From the perspective of nurses, the preliminary ICF core set for HSCT patients is feasible and relevant in gaining information regarding functioning. Applying this preliminary ICF core set for HSCT patients in the anamnesis and the nursing consultations contributes to this information. Further research is needed to look at the perspective of other professionals and HSCT patients themselves.</p

Identification of a BRCA2-Specific modifier locus at 6p24 related to breast cancer risk

Common genetic variants contribute to the observed variation in breast cancer risk for BRCA2 mutation carriers; those known to date have all been found through population-based genome-wide association studies (GWAS). To comprehensively identify breast cancer risk modifying loci for BRCA2 mutation carriers, we conducted a deep replication of an ongoing GWAS discovery study. Using the ranked P-values of the breast cancer associations with the imputed genotype of 1.4 M SNPs, 19,029 SNPs were selected and designed for inclusion on a custom Illumina array that included a total of 211,155 SNPs as part of a multi-consortial project. DNA samples from 3,881 breast cancer affected and 4,330 unaffected BRCA2 mutation carriers from 47 studies belonging to the Consortium of Investigators of Modifiers of BRCA1/2 were genotyped and available for analysis. We replicated previously reported breast cancer susceptibility alleles in these BRCA2 mutation carriers and for several regions (including FGFR2, MAP3K1, CDKN2A/B, and PTHLH) identified SNPs that have stronger evidence of association than those previously published. We also identified a novel susceptibility allele at 6p24 that was inversely associated with risk in BRCA2 mutation carriers (rs9348512; per allele HR = 0.85, 95% CI 0.80-0.90, P = 3.9×10−8). This SNP was not associated with breast cancer risk either in the general population or in BRCA1 mutation carriers. The locus lies within a region containing TFAP2A, which encodes a transcriptional activation protein that interacts with several tumor suppressor genes. This report identifies the first breast cancer risk locus specific to a BRCA2 mutation background. This comprehensive update of novel and previously reported breast cancer susceptibility loci contributes to the establishment of a panel of SNPs that modify breast cancer risk in BRCA2 mutation carriers. This panel may have clinical utility for women with BRCA2 mutations weighing options for medical prevention of breast cancer