RESUMO
Background and Aim: The improper handling of poultry litter and waste poses risks to humans and environment by introducing certain compounds, elements, and pathogenic microorganisms into the surrounding environment and food chain. However, understanding the farmers' knowledge, attitude, and practices (KAP) could provide insights into the constraints that hinder the appropriate adoption of waste management. Therefore, this study aimed to assess poultry farmers' KAP regarding waste management issues. Materials and Methods: A cross-sectional KAP study was conducted with native poultry keepers and small-scale commercial poultry farmers in seven districts of Bangladesh. In the survey, 385 poultry producers were interviewed using validated structured questionnaires through face-to-face interviews to collect the quantitative data in their domiciles. Results: The overall KAP of farmers regarding poultry waste management issues demonstrated a low level of KAP (p = 0.001). The analysis shows that roughly 5% of farmers have a high level of knowledge of poultry waste management issues, followed by around one-third of respondents having a moderate level of knowledge. Considering the attitude domain, more than one-fifth of native poultry keepers and nearly two-thirds of commercial producers demonstrated a low level of attitude toward poultry waste management. Considering the overall analysis, roughly half of the respondents found a high level of attitude, and over half of the farmers showed a moderate level of attitude toward poultry waste management issues. The analysis showed that the level of good practices for native and commercial poultry production systems is estimated at 77.3% versus 45.9%, respectively, despite the farmers' lesser knowledge and attitudes toward poultry waste management systems. Overall, analysis showed that nearly 60% and 40% of poultry producers had high and moderate levels, respectively, of good practices in poultry waste management issues. Conclusion: Analysis of the KAP data shows that farmers had a low level of KAP toward poultry waste management. The result of this study will assist in formulating appropriate strategies and to adopt poultry waste management solutions by poultry farmers to reduce environmental degradation.
RESUMO
BACKGROUND: Intellectual disability (ID) is a complex condition that can impact multiple domains of development. The genetic contribution to ID's etiology is significant, with more than 100 implicated genes and loci currently identified. The majority of such variants are rare and de novo genetic mutations. METHODS: We have applied whole-genome microarray to identify large, rare, clinically relevant copy number variants (CNVs). We have applied well-established algorithms for variants call. Quantitative polymerase chain reaction (qPCR) was applied to validate the variants using three technical replicates for each family member. To assess whether the copy number variation was due to balanced translocation or mosaicism, we further conducted droplet digital PCR (ddPCR) on the whole family. We have, as well, applied "critical-exon" mapping, human developmental brain transcriptome, and a database of known associated neurodevelopmental disorder variants to identify candidate genes. RESULTS: Here we present two siblings who are both impacted by a large terminal duplication and a deletion. Whole-genome microarray revealed an 18.82 megabase (MB) duplication at terminal locus (7q34-q36.3) of chromosome 7 and a 3.90 MB deletion impacting the terminal locus (15q26.3) of chromosome 15. qPCR and ddPCR experiments confirmed the de novo origin of the variants and the co-occurrence of these two de novo events among the siblings, but their absence in both parents, implicates an unbalanced translocation that could have mal-segregated among the siblings or a possible germline mosaicism. These terminal events impact IGF1R, CNTNAP2, and DPP6, shown to be strongly associated with neurodevelopmental disorders. Detailed clinical examination of the siblings revealed the presence of both shared and distinct phenotypic features. CONCLUSIONS: This study identified two large rare terminal de novo events impacting two siblings. Further phenotypic investigation highlights that even in the presence of identical large high penetrant variants, spectrum of clinical features can be different between the siblings.
