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- Alarcón Ferrari, Cristián, et al.
(författare)
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Agricultural Livelihoods, Rural Development Policy and Political Ecologies of Land and Water : exploring new agrarian questions
- 2023
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Ingår i: The Routledge Handbook on Livelihoods in the Global South. - London : Routledge. - 9780367856359 ; , s. 284-301
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Bokkapitel (refereegranskat)abstract
- This chapter examines some of the key links between agricultural livelihoods, rural development policy and agrarian change through the lens of a political ecology of land and water use. In doing so, we aim to develop a deeper understanding of the external and internal processes defining prospects and barriers for agricultural livelihoods. The chapter pays special attention to labour and gender relations in the understanding of agricultural livelihoods. The chapter focuses on 1) the role of control over land and water and labour in defining paths of agrarian change and their relation to different forms of agricultural livelihoods in the context of the sustainability crisis and climate change, and 2) how agricultural livelihoods interact with the wider processes of rural transformations premised on national rural development policies. In conceptual terms, the chapter develops perspectives from an agrarian question framework to offer theoretical and empirical insights into agricultural livelihoods in rural contexts of South America and Africa.
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- Gorram, Farida, et al.
(författare)
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New data on the genetic profile and penetrance of hereditary Val30Met transthyretin amyloidosis in Sweden
- 2021
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Ingår i: Amyloid. - : Taylor & Francis. - 1350-6129 .- 1744-2818. ; 28:2, s. 84-90
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Tidskriftsartikel (refereegranskat)abstract
- Introduction: Hereditary transthyretin (ATTRv) amyloidosis is of autosomal dominant transmission, caused by a spectrum of mutations in the transthyretin (TTR) gene. The ATTRV30M (p.Val50Met) is the most frequent substitution in Europe. Northern Sweden is a known cluster for ATTRV30M amyloidosis patients due to high prevalence of the mutation rate, with homozygous cases. First symptoms occur generally during the 6th decade. Previous studies reported low penetrance in this area and possible anticipation in families. In order to refine our knowledge of the genetic aspects, penetrance and factors that influence the disease’s risk, we performed a comprehensive study of ATTRV30M families in Sweden.Methods: To assess anticipation, well-established age at onset (AO) was compared in all informative parent-offspring pairs and in subgroups, after excluding ascertainment biases. Penetrance was estimated using a non-parametric method that enables to study covariates’ effect on the disease’s risk.Results: We analysed 114 ATTRV30M Swedish families, including 12 homozygous individuals. Among 131 parent-offspring pairs, we found an average anticipation of 11.7 [Standard Deviation (SD) =10.03] years, higher in case of maternal transmission (mean ± SD = 13.7 ± 8.4 years), compared to paternal transmission (mean ± SD = 7.9 ± 11.5 years, p < .003). Anticipation remained significant, after exclusion of ascertainment biases. In heterozygous ATTRV30M kindred, penetrance was low, estimated below 10% [95% confidence interval (CI) = 6–10] at 40 years-old, increasing to 71% [95% CI= 65–76] at age 90 years. The risk was found to be higher in male patients (p < .01) and in case of maternal transmission (p < .01), reflecting a parent of origin effect. We observed no difference of penetrance according the geographical origin. Finally, the disease risk was similar in heterozygous and homozygous ATTRV30M amyloidosis individuals.Conclusions: Our study provides new data on the genetics of ATTRV30M families in Sweden, including the occurrence of anticipation and on penetrance. Both are increased in case of maternal inheritance and in male patients. Overall, gender seems to be a factor that substantially modulates the AO of the disease, in this area. Clinically, these findings are of importance to guide the management of sibships and the monitoring of mutation carriers.
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- Planté-Bordeneuve, Violaine, et al.
(författare)
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A multicentric study of the disease risks and first manifestations in Hereditary transthyretin amyloidosis (ATTRv) : insights for an earlier diagnosis
- 2023
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Ingår i: Amyloid. - : Taylor & Francis. - 1350-6129 .- 1744-2818. ; 30:3, s. 313-320
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Tidskriftsartikel (refereegranskat)abstract
- Background: In hereditary transthyretin amyloidosis (ATTRv), early manifestation and age at onset (AO) may vary strikingly. We assessed the disease’risk (penetrance), AO and initial features in ATTRv families to gain insights on the early disease presentation. Methods: Genealogical information, AO and first disease manifestations were collected in ATTRv families, from Sweden, Italy (Sicily), Spain (Mallorca), France, Turkey, Brazil. Penetrance was computed using a non-parametric survival method. Results: We analysed 258 TTRV30M kindreds and 84 carrying six other variants (TTRT49A, F64L, S77Y, S77F, E89Q, I107V). In ATTRV30M families, the earliest disease risk was found at age 20 years in the Portuguese and Mallorcan families and at age 30-35 years, in the French and Swedish groups. The risks were higher in men and in carriers of maternal descent. In families carrying TTR-nonV30M variants, the earliest disease risk ranged from 30 y-o in TTRT49A to 55 y-o in TTRI107V families. Peripheral neuropathy symptoms were the most frequent initial manifestations. Among patients carrying TTRnonV30M variants, about 25% had an initial cardiac phenotype, one third a mixed phenotype. Conclusion: Our work provided solid data on the risks and early features of ATTRv in a spectrum of families to enhance an early diagnosis and treatment.
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