Suchergebnisse

Globally, pests (invertebrates, vertebrates, pathogens, weeds) can cause estimated annual losses of between 20- 40%, but higher losses are disproportionately experienced by many low-income countries as agriculture is the mainstay of the majority of the people and of national economies. Pests pose a major barrier to these countries to meet the aims of the UN Sustainable Development Goals, particularly SDG2 "End hunger, achieve food security and improved nutrition and promote sustainable agriculture". However, solutions, in the form of pest risk alert systems coupled with major advances in technology are now providing opportunities to overcome this barrier in low-income countries. In this paper we review these systems and the advances in data availability, management and modelling and communication technology and illustrate how these can provide new and novel solutions for the development of agricultural pest and disease early warning and risk mapping systems and contribute to improved food systems in low-income countries. In conclusion, we identify key areas for the UNFSS that will help guide governments to engage with these developments.

Importance Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation. Objective To identify the genetic variants associated with juvenile ALS. Design, Setting, and Participants In this multicenter family-based genetic study, trio whole-exome sequencing was performed to identify the disease-associated gene in a case series of unrelated patients diagnosed with juvenile ALS and severe growth retardation. The patients and their family members were enrolled at academic hospitals and a government research facility between March 1, 2016, and March 13, 2020, and were observed until October 1, 2020. Whole-exome sequencing was also performed in a series of patients with juvenile ALS. A total of 66 patients with juvenile ALS and 6258 adult patients with ALS participated in the study. Patients were selected for the study based on their diagnosis, and all eligible participants were enrolled in the study. None of the participants had a family history of neurological disorders, suggesting de novo variants as the underlying genetic mechanism. Main Outcomes and Measures De novo variants present only in the index case and not in unaffected family members. Results Trio whole-exome sequencing was performed in 3 patients diagnosed with juvenile ALS and their parents. An additional 63 patients with juvenile ALS and 6258 adult patients with ALS were subsequently screened for variants in the SPTLC1 gene. De novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient) were identified in 3 unrelated patients diagnosed with juvenile ALS and failure to thrive. A fourth variant (p.Leu39del) was identified in a patient with juvenile ALS where parental DNA was unavailable. Variants in this gene have been previously shown to be associated with autosomal-dominant hereditary sensory autonomic neuropathy, type 1A, by disrupting an essential enzyme complex in the sphingolipid synthesis pathway. Conclusions and Relevance These data broaden the phenotype associated with SPTLC1 and suggest that patients presenting with juvenile ALS should be screened for variants in this gene.