Investigation into the genetics of fetal congenital lymphatic anomalies

Objective

Congenital lymphatic anomalies (LAs) arise due to defects in lymphatic development and often present in utero as pleural effusion, chylothorax, nuchal and soft tissue edema, ascites, or hydrops. Many LAs are caused by single nucleotide variants, which are not detected on routine prenatal testing.

Methods

Demographic data were compared between two subcohorts, those with clinically significant fetal edema (CSFE) and isolated fetal edema. A targeted variant analysis of LA genes was performed using American College of Medical Genetics criteria on whole exome sequencing (WES) data generated for 71 fetal edema cases who remained undiagnosed after standard workup.

Results

CSFE cases had poor outcomes, including preterm delivery, demise, and maternal preeclampsia. Pathogenic and likely pathogenic variants were identified in 7% (5/71) of cases, including variants in RASopathy genes, RASA1, SOS1, PTPN11, and a novel PIEZO1 variant. Variants of uncertain significance (VOUS) were identified in 45% (32/71) of cases. In CSFEs, VOUS were found in CELSR1, EPHB4, TIE1, PIEZO1, ITGA9, RASopathy genes, SOS1, SOS2, and RAF1.

Conclusions

WES identified pathogenic and likely pathogenic variants and VOUS in LA genes in 51% of fetal edema cases, supporting WES and expanded hydrops panels in cases of idiopathic fetal hydrops and fluid collections.     

Inorganic acid emission factors of semiconductor manufacturing processes

A huge amount of inorganic acids can be produced and emitted with waste gases from integrated circuit manufacturing processes such as cleaning and etching. Emission of inorganic acids from selected semiconductor factories was measured in this study. The sampling of the inorganic acids was based on the porous metal denuders, and samples were then analyzed by ion chromatography. The amount of chemical usage was adopted from the data that were reported to the Environmental Protection Bureau in Hsin-chu County according to the Taiwan Environmental Protection Agency regulation. The emission factor is defined as the emission rate (kg/month) divided by the amount of chemical usage (L/month). Emission factors of three inorganic acids (i.e., hydrofluoric acid [HF], hydrochloric acid [HCl], and sulfuric acid [H2SO4]) were estimated by the same method. The emission factors of HF and HCl were determined to be 0.0075 kg/L (coefficient of variation [CV] = 60.7%, n = 80) and 0.0096 kg/L (CV = 68.2%, n = 91), respectively. Linear regression equations are proposed to fit the data with correlation coefficient square (R2) = 0.82 and 0.9, respectively. The emission factor of H2SO4, which is in the droplet form, was determined to be 0.0016 kg/L (CV = 99.2%, n = 107), and its R2 was 0.84. The emission profiles of gaseous inorganic acids show that HF is the dominant chemical in most of the fabricators.     

Soil carbon sequestration and associated economic costs for farming systems of the Indo-Gangetic Plain: A meta-analysis

Soil organic carbon sequestration rates over 20 years based on the Intergovernmental Panel for Climate Change (IPCC) methodology were combined with local economic data to determine the potential for soil C sequestration in wheat-based production systems on the Indo-Gangetic Plain (IGP). The C sequestration potential of rice-wheat systems of India on conversion to no-tillage is estimated to be 44.1 Mt C over 20 years. Implementing no-tillage practices in maize-wheat and cotton-wheat production systems would yield an additional 6.6 Mt C. This offset is equivalent to 9.6% of India's annual greenhouse gas emissions (519 Mt C) from all sectors (excluding land use change and forestry), or less than one percent per annum. The economic analysis was summarized as carbon supply curves expressing the total additional C accumulated over 20 year for a price per tonne of carbon sequestered ranging from zero to USD 200. At a carbon price of USD 25 Mg C⁻¹, 3 Mt C (7% of the soil C sequestration potential) could be sequestered over 20 years through the implementation of no-till cropping practices in rice-wheat systems of the Indian States of the IGP, increasing to 7.3 Mt C (17% of the soil C sequestration potential) at USD 50 Mg C⁻¹. Maximum levels of sequestration could be attained with carbon prices approaching USD 200 Mg C⁻¹ for the States of Bihar and Punjab. At this carbon price, a total of 34.7 Mt C (79% of the estimated C sequestration potential) could be sequestered over 20 years across the rice-wheat region of India, with Uttar Pradesh contributing 13.9 Mt C.     

Vulnerability of Indian mustard (<Emphasis Type="Italic">Brassica juncea</Emphasis> (L.) Czernj. Cosson) to climate variability and future adaptation strategies

A simulation study has been carried out using the InfoCrop mustard model to assess the impact of climate change and adaptation gains and to delineate the vulnerable regions for mustard (Brassica juncea (L.) Czernj. Cosson) production in India. On an all India basis, climate change is projected to reduce mustard grain yield by ～2 % in 2020 (2010–2039), ～7.9 % in 2050 (2040–2069) and ～15 % in 2080 (2070–2099) climate scenarios of MIROC3.2.HI (a global climate model) and Providing Regional Climates for Impact Studies (PRECIS, a regional climate model) models, if no adaptation is followed. However, spatiotemporal variations exist for the magnitude of impacts. Yield is projected to reduce in regions with current mean seasonal temperature regimes above 25/10 °C during crop growth. Adapting to climate change through a combination of improved input efficiency, additional fertilizers and adjusting the sowing time of current varieties can increase yield by ～17 %. With improved varieties, yield can be enhanced by ～25 % in 2020 climate scenario. But, projected benefits may reduce thereafter. Development of short-duration varieties and improved crop husbandry becomes essential for sustaining mustard yield in future climates. As climatically suitable period for mustard cultivation may reduce in future, short-duration (<130 days) cultivars with 63 % pod filling period will become more adaptable. There is a need to look beyond the suggested adaptation strategy to minimize the yield reduction in net vulnerable regions.     

Dynamics of Organic Carbon and Microbial Biomass in Alluvial Soil With Tillage and Amendments in Rice-wheat Systems

Rice-wheat cropping systems of the Indo-Gangetic plains (IGP) occupying 12 million ha of productive land are important for the food security of South Asia. There are, however, concerns that yield and factor productivity trends in these systems are declining/stagnating in recent years. Decrease in soil organic carbon is often suggested as a reason for such trends. A field experiment was conducted to study the soil organic carbon (SOC) and soil microbial biomass carbon (MBC) dynamics in the rice-wheat systems. Use of organic amendments and puddling of soil before rice transplanting increased SOC and MBC contents. Microbial biomass carbon showed a seasonal pattern. It was low initially, reached its peak during the flowering stages in both rice and wheat and declined thereafter. Microbial biomass carbon was linearly related to SOC in both rice and wheat indicating that SOC could be used as a proxy for MBC.