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1.
Int J Integr Care ; 22(2): 6, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35530431

RESUMEN

Introduction: This article describes an innovative, integrated care intervention, called BigMove, which aims to improve the functioning, capabilities and quality of life of people with a combination of physical and mental health conditions. Description: Theoretical frameworks reflected in the intervention are the Capability Approach (CA) and Self-Determination Theory (SDT). Essential elements of the intervention included to expand participants' behavioural repertoire are motivational interviewing; functional goal setting (using the International Classification of Functioning, Disability and Health (ICF); cognitive behavioural therapy; enjoyment; support of the group; and physical activity. The design combines individual sessions and group sessions. Discussion: By integrating the CA and the SDT, the intervention enables participants to make self-directed and value-driven choices in life and change their behaviour accordingly to strengthen their functioning and capabilities. To foster person-centred, integrated care, it is crucial to reform the interaction between professionals and patients and to re-structure the organisation and financing of care to enable the provision of complex integrated care interventions. Conclusion: For people with physical and mental health conditions, the intervention BigMove provides an innovative integrated care approach that addresses aspirations people have regarding their functioning and focuses on individual goal setting and behaviour change.

2.
Transl Psychiatry ; 11(1): 451, 2021 09 02.
Artículo en Inglés | MEDLINE | ID: mdl-34475377

RESUMEN

Genetic factors play a major role in frontotemporal dementia (FTD). The majority of FTD cannot be genetically explained yet and it is likely that there are still FTD risk loci to be discovered. Common variants have been identified with genome-wide association studies (GWAS), but these studies have not systematically searched for rare variants. To identify rare and new common variant FTD risk loci and provide more insight into the heritability of C9ORF72-related FTD, we performed a GWAS consisting of 354 FTD patients (including and excluding N = 28 pathological repeat carriers) and 4209 control subjects. The Haplotype Reference Consortium was used as reference panel, allowing for the imputation of rare genetic variants. Two rare genetic variants nearby C9ORF72 were strongly associated with FTD in the discovery (rs147211831: OR = 4.8, P = 9.2 × 10-9, rs117204439: OR = 4.9, P = 6.0 × 10-9) and replication analysis (P < 1.1 × 10-3). These variants also significantly associated with amyotrophic lateral sclerosis in a publicly available dataset. Using haplotype analyses in 1200 individuals, we showed that these variants tag a sub-haplotype of the founder haplotype of the repeat expansion that was previously found to be present in virtually all pathological C9ORF72 G4C2 repeat lengths. This new risk haplotype was 10 times more likely to contain a C9ORF72 pathological repeat length compared to founder haplotypes without one of the two risk variants (~22% versus ~2%; P = 7.70 × 10-58). In haplotypes without a pathologic expansion, the founder risk haplotype had a higher number of repeats (median = 12 repeats) compared to the founder haplotype without the risk variants (median = 8 repeats) (P = 2.05 × 10-260). In conclusion, the identified risk haplotype, which is carried by ~4% of all individuals, is a major risk factor for pathological repeat lengths of C9ORF72 G4C2. These findings strongly indicate that longer C9ORF72 repeats are unstable and more likely to convert to germline pathological C9ORF72 repeat expansions.


Asunto(s)
Proteína C9orf72/genética , Demencia Frontotemporal , Estudio de Asociación del Genoma Completo , Expansión de las Repeticiones de ADN/genética , Demencia Frontotemporal/genética , Haplotipos , Humanos
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