| 1. |
- Hibar, Derrek P., et al.
(författare)
-
Novel genetic loci associated with hippocampal volume
- 2017
-
Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 8
-
Tidskriftsartikel (refereegranskat)abstract
- The hippocampal formation is a brain structure integrally involved in episodic memory, spatial navigation, cognition and stress responsiveness. Structural abnormalities in hippocampal volume and shape are found in several common neuropsychiatric disorders. To identify the genetic underpinnings of hippocampal structure here we perform a genome-wide association study (GWAS) of 33,536 individuals and discover six independent loci significantly associated with hippocampal volume, four of them novel. Of the novel loci, three lie within genes (ASTN2, DPP4 and MAST4) and one is found 200 kb upstream of SHH. A hippocampal subfield analysis shows that a locus within the MSRB3 gene shows evidence of a localized effect along the dentate gyrus, subiculum, CA1 and fissure. Further, we show that genetic variants associated with decreased hippocampal volume are also associated with increased risk for Alzheimer's disease (r(g) = -0.155). Our findings suggest novel biological pathways through which human genetic variation influences hippocampal volume and risk for neuropsychiatric illness.
|
|
| 2. |
- Lithner, Maria, et al.
(författare)
-
Accessing Information in Order to Manage The Strain of a New Demanding Role : A Qualitative Study of the Next of Kin of Patients after Colorectal Cancer Surgery
- 2015
-
Ingår i: Colorectal Cancer: Open access. - 2471-9943. ; 1:1:6, s. 1-9
-
Tidskriftsartikel (refereegranskat)abstract
- Objectives: The aim of this study was to explore next of kin’s experiences of information and their information needs after the patient’s discharge for colorectal cancer surgery.Methods: Sixteen next of kin were interviewed twice during the first seven weeks after the patient’s discharge from hospital. The interviews were analysed through qualitative content analysis.Results: The participants in this study needed to access information so as to manage the strain of a new and demanding role as next of kin to a person with colorectal cancer. That role consisted of different parts: managing their own feelings and anxiety, sharing and participating in the patient’s life and supporting the patient and the rest of the family practically and emotionally. The waiting times increased the experience of uncertainty and made the adaptation to the role more difficult. The participants needed to receive their own information and support in order to be able to handle and balance the situation. They needed to share different parts of the patient’s cancer trajectory with them and have access to the same information.Conclusions: The next of kin needed to be included more actively in the patient’s cancer trajectory in order to manage the strain of being a support during the initial period at home. Participation in the information and the patient’s discharge planning are crucial in order to help patients regain control after colorectal cancer surgery.
|
|
| 3. |
- Lithner, Maria, et al.
(författare)
-
Patients' Perception of Information and Health-Related Quality of Life 1 Month After Discharge for Colorectal Cancer Surgery.
- 2015
-
Ingår i: Journal of Cancer Education. - : Springer Science and Business Media LLC. - 1543-0154 .- 0885-8195. ; 30:3, s. 514-521
-
Tidskriftsartikel (refereegranskat)abstract
- The aim of this study was to investigate how patients perceive information and their health-related quality of life 1 month after discharge for colorectal cancer surgery. The aim was also to compare these results with the first 2 weeks at home and to identify factors related to the perception of information. One hundred patients from three surgical clinics in the south of Sweden were included in this study. Perception of information was assessed with EORTC QLQ-INFO25, health-related quality of life with QLQ-C30 and QLQ-CR38, classification of physical status with American Society of Anaesthesiologists (ASA) and sense of coherence with SOC-13. Patients in this study did not receive enough information, and this had not changed significantly since the first 2 weeks at home. Only one subscale about disease information (p = 0.01) had improved since the first 2 weeks at home, while health-related quality of life had improved significantly during the same period. Poorer physical status and living alone were related to a perception of having received less information after discharge. Patients did not receive sufficient information to prepare them for the period at home after discharge, and their perception of information remained during the first month at home. Patients with a poorer preoperative physical status and who live alone constitute a vulnerable group in need of more information at discharge. This enhances the need to individualize the information and to offer multiple ways of accessing information after discharge.
|
|
| 4. |
|
|
| 5. |
- Satizabal, Claudia L., et al.
(författare)
-
Genetic architecture of subcortical brain structures in 38,851 individuals
- 2019
-
Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 51:11, s. 1624-
-
Tidskriftsartikel (refereegranskat)abstract
- Subcortical brain structures are integral to motion, consciousness, emotions and learning. We identified common genetic variation related to the volumes of the nucleus accumbens, amygdala, brainstem, caudate nucleus, globus pallidus, putamen and thalamus, using genome-wide association analyses in almost 40,000 individuals from CHARGE, ENIGMA and UK Biobank. We show that variability in subcortical volumes is heritable, and identify 48 significantly associated loci (40 novel at the time of analysis). Annotation of these loci by utilizing gene expression, methylation and neuropathological data identified 199 genes putatively implicated in neurodevelopment, synaptic signaling, axonal transport, apoptosis, inflammation/infection and susceptibility to neurological disorders. This set of genes is significantly enriched for Drosophila orthologs associated with neurodevelopmental phenotypes, suggesting evolutionarily conserved mechanisms. Our findings uncover novel biology and potential drug targets underlying brain development and disease.
|
|
