| 1. |
- Björne, Petra, et al.
(författare)
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Organisational impact on the use of restrictive measures: The perspective of Swedish front-line managers
- 2023
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Ingår i: Journal of Applied Research in Intellectual Disabilities. - 1360-2322 .- 1468-3148. ; 36:5, s. 1025-1033
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundRestrictive measures (RM) are prevalent in services for people with intellectual disabilities. This study investigates managerial awareness of RM and the nature of organisational supports required to reduce their use. MethodA survey asked front-line managers and staff what (RM) were used, their purpose, impact and importance (10-item Likert scales) and what organisational changes were required (free text). Responses were analysed using descriptive methods and content analysis. ResultsManagers reported a lower use of RM, compared with staff. According to managers, RM were mainly used to keep service users from harm, their use having a significant impact. Opportunities to change practices were limited by a lack of resources and organisational support. ConclusionFront-line managers seem to lack the capacity to address the use of RM due to organisational drift; limited manager time and opportunity to allocate resources; inadequate environments; and lack of skilled staff, knowledge and relevant professional input.
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| 2. |
- Björne, Petra, et al.
(författare)
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The Use of Restrictive Measures in Community Services for People With Intellectual Disabilities in Sweden
- 2022
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Ingår i: Journal of Policy and Practice in Intellectual Disabilities. - : Wiley. - 1741-1122 .- 1741-1130. ; 19:2, s. 193-201
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Tidskriftsartikel (refereegranskat)abstract
- Background Community services for Swedish people with intellectual disability (ID) are intended to support self-determination and integrity. Legislation does not allow the use of restrictive or coercive measures. Aim The aim of this study is to identify the extent of, rationale for, and strategies staff believe would reduce the use of restrictive measures in group homes and daily activities services for people with ID. Method A survey was sent to all staff in group homes and daily activities in one large Swedish municipality. The survey comprised four Likert style questions and one free text question, addressing the type of and reasons for restrictive measures, and how much staff value their replacement. A total of 250 surveys were completed. Results A third of staff reported that some restrictive measures were used daily or weekly, primarily to protect and support service users. Adequate numbers of staff, better service design, and training were considered necessary for change. Conclusion Staff report structural reasons, such as staffing, resources time, lack of training, and supervision for using restrictive measures. Staff see reducing the use of restrictive measures as requiring structural changes with engagement from the whole organization.
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| 3. |
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| 4. |
- Dhanraj, Santhosh, et al.
(författare)
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Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN)
- 2015
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Ingår i: Journal of Medical Genetics. - : BMJ. - 0022-2593 .- 1468-6244. ; 52:11, s. 738-748
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Tidskriftsartikel (refereegranskat)abstract
- Background Deadenylation regulates RNA function and fate. Poly(A)-specific ribonuclease (PARN) is a deadenylase that processes mRNAs and non-coding RNA. Little is known about the biological significance of germline mutations in PARN. Methods We identified mutations in PARN in patients with haematological and neurological manifestations. Genomic, biochemical and knockdown experiments in human marrow cells and in zebrafish have been performed to clarify the role of PARN in the human disease. Results We identified large monoallelic deletions in PARN in four patients with developmental delay or mental illness. One patient in particular had a severe neurological phenotype, central hypomyelination and bone marrow failure. This patient had an additional missense mutation on the non-deleted allele and severely reduced PARN protein and deadenylation activity. Cells from this patient had impaired oligoadenylation of specific H/ACA box small nucleolar RNAs. Importantly, PARN-deficient patient cells manifested short telomeres and an aberrant ribosome profile similar to those described in some variants of dyskeratosis congenita. Knocking down PARN in human marrow cells and zebrafish impaired haematopoiesis, providing further evidence for a causal link with the human disease. Conclusions Large monoallelic mutations of PARN can cause developmental/mental illness. Biallelic PARN mutations cause severe bone marrow failure and central hypomyelination.
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| 5. |
- Kreins, AY, et al.
(författare)
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Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome
- 2015
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Ingår i: The Journal of experimental medicine. - : Rockefeller University Press. - 1540-9538 .- 0022-1007. ; 212:10, s. 1641-1662
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Tidskriftsartikel (refereegranskat)abstract
- Autosomal recessive, complete TYK2 deficiency was previously described in a patient (P1) with intracellular bacterial and viral infections and features of hyper-IgE syndrome (HIES), including atopic dermatitis, high serum IgE levels, and staphylococcal abscesses. We identified seven other TYK2-deficient patients from five families and four different ethnic groups. These patients were homozygous for one of five null mutations, different from that seen in P1. They displayed mycobacterial and/or viral infections, but no HIES. All eight TYK2-deficient patients displayed impaired but not abolished cellular responses to (a) IL-12 and IFN-α/β, accounting for mycobacterial and viral infections, respectively; (b) IL-23, with normal proportions of circulating IL-17+ T cells, accounting for their apparent lack of mucocutaneous candidiasis; and (c) IL-10, with no overt clinical consequences, including a lack of inflammatory bowel disease. Cellular responses to IL-21, IL-27, IFN-γ, IL-28/29 (IFN-λ), and leukemia inhibitory factor (LIF) were normal. The leukocytes and fibroblasts of all seven newly identified TYK2-deficient patients, unlike those of P1, responded normally to IL-6, possibly accounting for the lack of HIES in these patients. The expression of exogenous wild-type TYK2 or the silencing of endogenous TYK2 did not rescue IL-6 hyporesponsiveness, suggesting that this phenotype was not a consequence of the TYK2 genotype. The core clinical phenotype of TYK2 deficiency is mycobacterial and/or viral infections, caused by impaired responses to IL-12 and IFN-α/β. Moreover, impaired IL-6 responses and HIES do not appear to be intrinsic features of TYK2 deficiency in humans.
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| 6. |
- Martin, Francis, et al.
(författare)
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The genome of Laccaria bicolor provides insights into mycorrhizal symbiosis
- 2008
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 452:7183, s. 7-88
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Tidskriftsartikel (refereegranskat)abstract
- Mycorrhizal symbioses -- the union of roots and soil fungi -- are universal in terrestrial ecosystems and may have been fundamental to land colonization by plants1,2. Boreal, temperate, and montane forests all depend upon ectomycorrhizae1. Identification of the primary factors that regulate symbiotic development and metabolic activity will therefore open the door to understanding the role of 2 ectomycorrhizae in plant development and physiology, allowing the full ecological significance of this symbiosis to be explored. Here, we report the genome sequence of the ectomycorrhizal basidiomycete Laccaria bicolor (Fig. 1) and highlight gene sets involved in rhizosphere colonization and symbiosis. This 65-million-base genome assembly contains ~ 20,000 predicted protein-encoding genes and a very large number of transposons and repeated sequences. We detected unexpected genomic features most notably a battery of effector-type small secreted proteins (SSP) with unknown function, several of which are only expressed in symbiotic tissues. The most highly expressed SSP accumulates in the proliferating hyphae colonizing the host root. The ectomycorrhizae-specific proteins likely play a decisive role in the establishment of the symbiosis. The unexpected observation that the genome of L. bicolor lacks carbohydrate-active enzymes involved in degradation of plant cell walls, but maintains the ability to degrade non-plant cell walls, reveals the dual saprotrophic and biotrophic lifestyle of the mycorrhizal fungus which enables it to grow within both soil and living plant roots. The predicted gene inventory of the L. bicolor genome, therefore, points to previously unknown mechanisms of symbiosis operating in biotrophic mycorrhizal fungi. The availability of this genome provides an unparalleled opportunity to develop a deeper understanding of the processes by which symbionts interact with plants within their ecosystem in order to perform vital functions in the carbon and nitrogen cycles that are fundamental to sustainable plant productivity.
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| 7. |
- Schenkel, D., et al.
(författare)
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Linking soil's volatilome to microbes and plant roots highlights the importance of microbes as emitters of belowground volatile signals
- 2019
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Ingår i: Environmental Microbiology. - : Blackwell Publishing Ltd. - 1462-2912 .- 1462-2920. ; 21:9, s. 3313-3327
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Tidskriftsartikel (refereegranskat)abstract
- Plants and microbes release a plethora of volatiles that act as signals in plant–microbe interactions. Characterizing soil's volatilome and microbiome might shed light on the nature of relevant volatile signals and on their emitters. This hypothesis was tested by characterizing plant cover, soil's volatilome, nutrient content and microbiomes in three grasslands of the Swiss Jura Mountains. The fingerprints of soil's volatiles were generated by solid-phase micro-extraction gas chromatography/mass spectrometry, whereas high-throughput sequencing was used to create a snapshot of soil's microbial communities. A high similarity was observed in plant communities of two out of three sites, which was mirrored by the soil's volatilome. Multiple factor analysis evidenced a strong association among soil's volatilome, plant and microbial communities. The proportion of volatiles correlated to single bacterial and fungal taxa was higher than for plants. This suggests that those organisms might be major contributors to the volatilome of grassland soils. These findings illustrate that key volatiles in grassland soils might be emitted by a handful of organisms that include specific plants and microbes. Further work will be needed to unravel the structure of belowground volatiles and understand their implications for plant health and development.
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