| 1. |
- Ng, M Y M, et al.
(författare)
-
Meta-analysis of 32 genome-wide linkage studies of schizophrenia
- 2009
-
Ingår i: Molecular Psychiatry. - : Springer Science and Business Media LLC. - 1359-4184 .- 1476-5578. ; 14:8, s. 774-785
-
Tidskriftsartikel (refereegranskat)abstract
- A genome scan meta-analysis (GSMA) was carried out on 32 independent genome-wide linkage scan analyses that included 3255 pedigrees with 7413 genotyped cases affected with schizophrenia (SCZ) or related disorders. The primary GSMA divided the autosomes into 120 bins, rank-ordered the bins within each study according to the most positive linkage result in each bin, summed these ranks (weighted for study size) for each bin across studies and determined the empirical probability of a given summed rank (P(SR)) by simulation. Suggestive evidence for linkage was observed in two single bins, on chromosomes 5q (142-168 Mb) and 2q (103-134 Mb). Genome-wide evidence for linkage was detected on chromosome 2q (119-152 Mb) when bin boundaries were shifted to the middle of the previous bins. The primary analysis met empirical criteria for 'aggregate' genome-wide significance, indicating that some or all of 10 bins are likely to contain loci linked to SCZ, including regions of chromosomes 1, 2q, 3q, 4q, 5q, 8p and 10q. In a secondary analysis of 22 studies of European-ancestry samples, suggestive evidence for linkage was observed on chromosome 8p (16-33 Mb). Although the newer genome-wide association methodology has greater power to detect weak associations to single common DNA sequence variants, linkage analysis can detect diverse genetic effects that segregate in families, including multiple rare variants within one locus or several weakly associated loci in the same region. Therefore, the regions supported by this meta-analysis deserve close attention in future studies.
|
|
| 2. |
- Norppa, H., et al.
(författare)
-
Chromosomal aberrations and SCEs as biomarkers of cancer risk
- 2006
-
Ingår i: Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis. - : Elsevier BV. - 1879-2871 .- 0027-5107. ; 600:1-2, s. 37-45
-
Tidskriftsartikel (refereegranskat)abstract
- Previous studies have suggested that the frequency of chromosomal aberrations (CAs), but not of sister chromatid exchanges (SCEs), predicts cancer risk. We have further examined this relationship in European cohorts comprising altogether almost 22,000 subjects, in the framework of a European collaborative project (CancerRiskBiomarkers). The present paper gives an overview of some of the results of the project, especially as regards CAs and SCEs. The results confirm that a high level of CAs is associated with an increased risk of cancer and indicate that this association does not depend on the time between CA analysis and cancer detection, i.e., is obviously not explained by undetected cancer. The present evidence indicates that both chromatid-type and chromosome-type CAs predict cancer, even though some data suggest that chromosome-type CAs may have a more pronounced predictive value than chromatid-type CAs. CA frequency appears to predict cancers at various sites, although there seems to be a particular association with gastrointestinal cancers. SCE frequency does not appear to have cancer predictive value, at least partly due to uncontrollable technical variation. A number of genetic polymorphisms of xenobiotic metabolism, DNA repair, and folate metabolism affect the level of CAs and might collectively contribute to the cancer predictivity of CAs. Other factors that may influence the association between CAs and cancer include, e.g., exposure to genotoxic carcinogens and internal generation of genotoxic species. Although the association between CA level and cancer is seen at the group level, an association probably also exists for the individual, although it is not known if an individual approach could be feasible. However, group level evidence should be enough to support the use of CA analysis as a tool in screening programs and prevention policies in occupational and environmental health.
|
|
| 3. |
- Swenne, C.L., et al.
(författare)
-
Patients' experiences of mediastinitis after coronary artery bypass graft procedure
- 2007
-
Ingår i: Scandinavian Cardiovascular Journal. - 1401-7431 .- 1651-2006. - 1401-7431 ; 41:4, s. 255-264
-
Tidskriftsartikel (refereegranskat)abstract
- Few studies have focussed on patients' experiences of and suffering due to mediastinitis following Coronary Artery by-pass Graft ( CABG). Mediastinitis creates a complex and invasive experience for the patient with prolonged hospitalisation, and would be expected to be a significant stressor. The aim of the present study was to capture patients' experiences of the medical and nursing care they received for mediastinitis following CABG. Content analysis revealed three themes with regard to how the patients coped with the stress and threats of mediastinitis and its treatment and how they thought it would influence their future life. A first theme centred on physical and psychological discomfort and impact on autonomy. The staff's medical knowledge and the quality of nursing care as well as the patients' understanding of the situation influenced their experience. A second theme was how patients dealt with perceived danger and stress. Coping strategies such as problem solving, information seeking, dissociation, distraction, minimisation and expression of emotion were used to handle the situations. The third theme comprised the patients' belief that the mediastinitis would not affect the outcome of the CABG procedure, even though their confidence in this was influenced by uncertainty about the rehabilitation process.
|
|
| 4. |
|
|
| 5. |
|
|
| 6. |
- Beeckman, Dimitri, et al.
(författare)
-
EPUAP classification system for pressure ulcers : european reliability study
- 2007
-
Ingår i: Journal of Advanced Nursing. - 0309-2402 .- 1365-2648. - 0309-2402 ; 60:6, s. 682-691
-
Tidskriftsartikel (refereegranskat)abstract
- Aim. This paper is a report of a study of the inter-observer reliability of the European Pressure Ulcer Advisory Panel pressure ulcer classification system and of the differential diagnosis between moisture lesions and pressure ulcers. Background. Pressure ulcer classification is a valuable tool to provide a common description of ulcer severity for the purposes of clinical practice, audit and research. Despite everyday use of the European Pressure Ulcer Advisory Panel system, its reliability has been evaluated in only a limited number of studies. Methods. A survey was carried out between September 2005 and February 2006 with a convenience sample of 1452 nurses from five European countries. Respondents classified 20 validated photographs as normal skin, blanchable erythema, pressure ulcers (four grades), moisture lesion or combined lesion. The nurses were familiar with the use of the European Pressure Ulcer Advisory Panel classification scale. Results. Pressure ulcers were often classified erroneously (kappa = 0.33) and only a minority of nurses reached a substantial level of agreement. Grade 3 lesions were regularly classified as grade 2. Non-blanchable erythema was frequently assessed incorrectly as blanchable erythema. Furthermore, the differential diagnosis between moisture lesions and pressure ulcers appeared to be complicated. Conclusion. Inter-observer reliability of the European Pressure Ulcer Advisory Panel classification system was low. Evaluation thus needs to focus on both the clarity and complexity of the system. Definitions and unambiguous descriptions of pressure ulcer grades and the distinction between moisture lesions will probably enhance clarity. To simplify the current classification system, a reduction in the number of grades is suggested.
|
|
| 7. |
- Beeckman, D., et al.
(författare)
-
EPUAP classification system for pressure ulcers : European reliability study
- 2007
-
Ingår i: Journal of Advanced Nursing. - : Wiley. - 0309-2402 .- 1365-2648. ; 60:6, s. 682-691
-
Tidskriftsartikel (refereegranskat)abstract
- AIM: This paper is a report of a study of the inter-observer reliability of the European Pressure Ulcer Advisory Panel pressure ulcer classification system and of the differential diagnosis between moisture lesions and pressure ulcers. BACKGROUND: Pressure ulcer classification is a valuable tool to provide a common description of ulcer severity for the purposes of clinical practice, audit and research. Despite everyday use of the European Pressure Ulcer Advisory Panel system, its reliability has been evaluated in only a limited number of studies. METHODS: A survey was carried out between September 2005 and February 2006 with a convenience sample of 1452 nurses from five European countries. Respondents classified 20 validated photographs as normal skin, blanchable erythema, pressure ulcers (four grades), moisture lesion or combined lesion. The nurses were familiar with the use of the European Pressure Ulcer Advisory Panel classification scale. RESULTS: Pressure ulcers were often classified erroneously (kappa = 0.33) and only a minority of nurses reached a substantial level of agreement. Grade 3 lesions were regularly classified as grade 2. Non-blanchable erythema was frequently assessed incorrectly as blanchable erythema. Furthermore, the differential diagnosis between moisture lesions and pressure ulcers appeared to be complicated. CONCLUSION: Inter-observer reliability of the European Pressure Ulcer Advisory Panel classification system was low. Evaluation thus needs to focus on both the clarity and complexity of the system. Definitions and unambiguous descriptions of pressure ulcer grades and the distinction between moisture lesions will probably enhance clarity. To simplify the current classification system, a reduction in the number of grades is suggested.
|
|
| 8. |
|
|
| 9. |
- Lindholm, D, et al.
(författare)
-
Neuronal apoptosis inhibitory protein : structural requirements for hippocalcin binding and effects on survival of NGF-denendent sympathetic neurons
- 2002
-
Ingår i: Biochimica et Biophysica Acta - Proteins and Proteomics. - : ELSEVIER SCIENCE BV. - 1570-9639 .- 1878-1454. ; 1600:1-2, s. 138-147
-
Tidskriftsartikel (refereegranskat)abstract
- Neuronal apoptosis inhibitory protein (NAIP) has been linked to the inherited disease, spinal muscular atrophy (SMA), which occurs in children with degeneration of the motorneurons. In the nervous system, NAIP is expressed by specific classes of neurons including spinal -motorneurons. Recently, NAIP was shown to interact with hippocalcin, which belongs to the neuronal calcium sensor (NCS) protein family. Here we-have studied this interaction in more detail, using deletions and a mutagenesis of the third baculovirus inhibitory repeat (BIR) motif in NAIP, and functional assays for neuronal death. The results showed that specific amino acids and the zinc finger domain in BIR3 are needed for efficient interaction of NAIP with hippocalcin. Cotransfections of NAIP-BIR3 and hippocalcin resulted in translocation and colocalisation of the two proteins in neuroblastoma cells. This was accompanied by an enhanced resistance towards cell death induced by high levels of calcium. In contrast, expression of NAIP-BIR3 and hippocalcin in sympathetic neurons did not protect against death induced by nerve growth factor (NGF) withdrawal. The results demonstrate a functional interaction of hippocalcin with NAIP-BIR3, which in neuroblastoma cells leads to rescue of cells after high intracellular calcium, but which in sympathetic neurons had no significant effect. The results indicate that NAIP in conjunction with hippocalcin can affect the survival of some, but not all neural cells, and this interaction may play a role in the neurodegenerative processes in SMA, and possible other human disorders. (C) 2002 Elsevier Science B.V All rights reserved.
|
|
| 10. |
|
|
