Targeted gene sanger sequencing should remain the first-tier genetic test for children suspected to have the five common X-linked inborn errors of immunity

DATA AVAILABILITY STATEMENT : The original contributions presented in the study are included in the article/Supplementary Material. Further inquiries can be directed to the corresponding author.To address inborn errors of immunity (IEI) which were underdiagnosed in resource-limited regions, our centre developed and offered free genetic testing for the most common IEI by Sanger sequencing (SS) since 2001. With the establishment of The Asian Primary Immunodeficiency (APID) Network in 2009, the awareness and definitive diagnosis of IEI were further improved with collaboration among centres caring for IEI patients from East and Southeast Asia. We also started to use whole exome sequencing (WES) for undiagnosed cases and further extended our collaboration with centres from South Asia and Africa. With the increased use of Next Generation Sequencing (NGS), we have shifted our diagnostic practice from SS to WES. However, SS was still one of the key diagnostic tools for IEI for the past two decades. Our centre has performed 2,024 IEI SS genetic tests, with in-house protocol designed specifically for 84 genes, in 1,376 patients with 744 identified to have disease-causing mutations (54.1%). The high diagnostic rate after just one round of targeted gene SS for each of the 5 common IEI (X-linked agammaglobulinemia (XLA) 77.4%, Wiskott–Aldrich syndrome (WAS) 69.2%, X-linked chronic granulomatous disease (XCGD) 59.5%, X-linked severe combined immunodeficiency (XSCID) 51.1%, and X-linked hyper-IgM syndrome (HIGM1) 58.1%) demonstrated targeted gene SS should remain the first-tier genetic test for the 5 common X-linked IEI.The Hong Kong Society for Relief of Disabled Children and Jeffrey Modell Foundation.http://www.frontiersin.org/Immunologyam2023Paediatrics and Child Healt

Community vulnerability assessment index for flood prone savannah agro-ecological zone: A case study of Wa West District, Ghana

The savannah regions of Northern Ghana are characterized by smallholder farming systems and high levels of poverty. Over the past two decades, communities in the regions have become more prone to climate and human-induced disasters in the form of annual floods and droughts. This study evaluates the degree and magnitude of vulnerability in four communities subjected to similar climate change induced flood events and propose intervention options. The study employs rural participatory research approaches in developing four vulnerability categories namely socio-economic, ecological, engineering and political; which were used to develop indicators that aided the calculation of total community vulnerability index for each community. The findings indicate that the state of a community's vulnerability to flood is a composite effect of the four vulnerability index categories which may act independently or concurrently to produce the net effect. Based on a synthesis of total vulnerability obtained in each community, Baleufili was found to be the least vulnerable to flood due to its high scores in engineering, socio-economic and political vulnerability indicators. Baleufili and Bankpama were the most ecologically vulnerable communities. The selection of vulnerability index categories and associated indicators were grounded in specific local peculiarities that evolved out of engagement with community stakeholders and expert knowledge of the socioecological landscape. Thus, the Total Community Vulnerability Assessment Framework (TCVAF) provides an effective decision support for identifying communities’ vulnerability status and help to design both short and long term interventions options that are community specific as a way of enhancing their coping and adaptive capacity to disasters

Oral Bioavailability, Bioaccessibility, and Dermal Absorption of PAHs from SoilState of the Science

This article reviews the state of the science regarding oral bioavailability, bioaccessibility, and dermal absorption of carcinogenic polycyclic aromatic hydrocarbons (cPAHs) in soil by humans, and discusses how chemical interactions may control the extent of absorption. Derived from natural and anthropomorphic origins, PAHs occur in a limited number of solid and fluid matrices (i.e., PAH sources) with defined physical characteristics and PAH compositions. Existing studies provide a strong basis for establishing that oral bioavailability of cPAHs from soil is less than from diet, and an assumption of 100% relative bioavailability likely overestimates exposure to cPAHs upon ingestion of PAH-contaminated soil. For both the oral bioavailability and dermal absorption studies, the aggregate data do not provide a broad understanding of how different PAH source materials, PAH concentrations, or soil chemistries influence the absorption of cPAHs from soil. This article summarizes the existing studies, identifies data gaps, and provides recommendations for the direction of future research to support new default or site-specific bioavailability adjustments for use in human health risk assessment