12 research outputs found

    Multiple stressors in Southern Africa: the link between HIV/AIDS, food insecurity, poverty and children's vulnerability now and in the future

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    Several countries in Southern Africa now see large numbers of their population barely subsisting at poverty levels in years without shocks, and highly vulnerable to the vagaries of the weather, the economy and government policy. The combination of HIV/AIDS, food insecurity and a weakened capacity for governments to deliver basic social services has led to the region experiencing an acute phase of a long-term emergency. “Vulnerability” is a term commonly used by scientists and practitioners to describe these deteriorating conditions. There is particular concern about the “vulnerability” of children in this context and implications for children's future security. Through a review of literature and recent case studies, and using a widely accepted conceptualisation of vulnerability as a lens, we reflect on what the regional livelihoods crisis could mean for children's future wellbeing. We argue that an increase in factors determining the vulnerability of households — both through greater intensity and frequency of shocks and stresses (“external” vulnerability) and undermined resilience or ability to cope (“internal” vulnerability) — are threatening not only current welfare of children, but also their longer-term security. The two specific pathways we explore are (1) erosive coping strategies employed by families and individuals; and (2) their inability to plan for the future. We conclude that understanding and responding to this crisis requires looking at the complexity of these multiple stressors, to try to comprehend their interconnections and causal links. Policy and programme responses have, to date, largely failed to take into account the complex and multi-dimensional nature of this crisis. There is a misfit between the problem and the institutional response, as responses from national and international players have remained relatively static. Decisive, well-informed and holistic interventions are needed to break the potential negative cycle that threatens the future security of Southern Africa's children

    Effect of Acinetobacter sp on Metalaxyl Degradation and Metabolite Profile of Potato Seedlings (Solanum tuberosum L.) Alpha Variety

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    One of the most serious diseases in potato cultivars is caused by the pathogen Phytophthora infestans, which affects leaves, stems and tubers. Metalaxyl is a fungicide that protects potato plants from Phytophthora infestans. In Mexico, farmers apply metalaxyl 35 times during the cycle of potato production and the last application is typically 15 days before harvest. There are no records related to the presence of metalaxyl in potato tubers in Mexico. In the present study, we evaluated the effect of Acinetobacter sp on metalaxyl degradation in potato seedlings. The effect of bacteria and metalaxyl on the growth of potato seedlings was also evaluated. A metabolite profile analysis was conducted to determine potential molecular biomarkers produced by potato seedlings in the presence of Acinetobacter sp and metalaxyl. Metalaxyl did not affect the growth of potato seedlings. However, Acinetobacter sp strongly affected the growth of inoculated seedlings, as confirmed by plant length and plant fresh weights which were lower in inoculated potato seedlings (40% and 27%, respectively) compared to the controls. Acinetobacter sp also affected root formation. Inoculated potato seedlings showed a decrease in root formation compared to the controls. LC-MS/MS analysis of metalaxyl residues in potato seedlings suggests that Acinetobacter sp did not degrade metalaxyl. GC–TOF–MS platform was used in metabolic profiling studies. Statistical data analysis and metabolic pathway analysis allowed suggesting the alteration of metabolic pathways by both Acinetobacter sp infection and metalaxyl treatment. Several hundred metabolites were detected, 137 metabolites were identified and 15 metabolic markers were suggested based on statistical change significance found with PLS-DA analysis. These results are important for better understanding the interactions of putative endophytic bacteria and pesticides on plants and their possible effects on plant metabolism

    De novo and biallelic DEAF1 variants cause a phenotypic spectrum.

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    PURPOSE: To investigate the effect of different DEAF1 variants on the phenotype of patients with autosomal dominant and recessive inheritance patterns and on DEAF1 activity in vitro. METHODS: We assembled a cohort of 23 patients with de novo and biallelic DEAF1 variants, described the genotype-phenotype correlation, and investigated the differential effect of de novo and recessive variants on transcription assays using DEAF1 and Eif4g3 promoter luciferase constructs. RESULTS: The proportion of the most prevalent phenotypic features, including intellectual disability, speech delay, motor delay, autism, sleep disturbances, and a high pain threshold, were not significantly different in patients with biallelic and pathogenic de novo DEAF1 variants. However, microcephaly was exclusively observed in patients with recessive variants (p < 0.0001). CONCLUSION: We propose that different variants in the DEAF1 gene result in a phenotypic spectrum centered around neurodevelopmental delay. While a pathogenic de novo dominant variant would also incapacitate the product of the wild-type allele and result in a dominant-negative effect, a combination of two recessive variants would result in a partial loss of function. Because the clinical picture can be nonspecific, detailed phenotype information, segregation, and functional analysis are fundamental to determine the pathogenicity of novel variants and to improve the care of these patients

    Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

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    The phenotypic variability associated with pathogenic variants in Lysine Acetyltransferase 6B (KAT6B, a.k.a. MORF, MYST4) results in several interrelated syndromes including Say-Barber-Biesecker-Young-Simpson Syndrome and Genitopatellar Syndrome. Here we present 20 new cases representing 10 novel KAT6B variants. These patients exhibit a range of clinical phenotypes including intellectual disability, mobility and language difficulties, craniofacial dysmorphology, and skeletal anomalies. Given the range of features previously described for KAT6B-related syndromes, we have identified additional phenotypes including concern for keratoconus, sensitivity to light or noise, recurring infections, and fractures in greater numbers than previously reported. We surveyed clinicians to qualitatively assess the ways families engage with genetic counselors upon diagnosis. We found that 56% (10/18) of individuals receive diagnoses before the age of 2&nbsp;years (median age&nbsp;=&nbsp;1.96&nbsp;years), making it challenging to address future complications with limited accessible information and vast phenotypic severity. We used CRISPR to introduce truncating variants into the KAT6B gene in model cell lines and performed chromatin accessibility and transcriptome sequencing to identify key dysregulated pathways. This study expands the clinical spectrum and addresses the challenges to management and genetic counseling for patients with KAT6B-related disorders
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