Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.

Discovery of most autosomal recessive disease-associated genes has involved analysis of large, often consanguineous multiplex families or small cohorts of unrelated individuals with a well-defined clinical condition. Discovery of new dominant causes of rare, genetically heterogeneous developmental disorders has been revolutionized by exome analysis of large cohorts of phenotypically diverse parent-offspring trios. Here we analyzed 4,125 families with diverse, rare and genetically heterogeneous developmental disorders and identified four new autosomal recessive disorders. These four disorders were identified by integrating Mendelian filtering (selecting probands with rare, biallelic and putatively damaging variants in the same gene) with statistical assessments of (i) the likelihood of sampling the observed genotypes from the general population and (ii) the phenotypic similarity of patients with recessive variants in the same candidate gene. This new paradigm promises to catalyze the discovery of novel recessive disorders, especially those with less consistent or nonspecific clinical presentations and those caused predominantly by compound heterozygous genotypes

Management of Soil-Borne Diseases of Grain Legumes Through Broad-Spectrum Actinomycetes Having Plant Growth-Promoting and Biocontrol Traits

Chickpea (Cicer arietinum L.) and pigeonpea (Cajanus cajan L.) are the two important grain legumes grown extensively in the semiarid tropics (SAT) of the world, where soils are poor in nutrients and receive inadequate/erratic rainfall. SAT regions are commonly found in Africa, Australia, and South Asia. Chickpea and pigeonpea suffer from about 38 pathogens that cause soil-borne diseases including wilt, collar rot, dry root rot, damping off, stem canker, and Ascochyta/Phytophthora blight, and of which three of them, wilt, collar rot, and dry root rot, are important in SAT regions. Management of these soil-borne diseases are hard, as no one control measure is completely effective. Advanced/delayed sowing date, solarization of soil, and use of fungicides are some of the control measures usually employed for these diseases but with little success. The use of disease-resistant cultivar is the best efficient and economical control measure, but it is not available for most of the soil-borne diseases. Biocontrol of soil-borne plant pathogens has been managed using antagonistic actinobacteria, bacteria, and fungi. Actinobacterial strains of Streptomyces, Amycolatopsis, Micromonospora, Frankia, and Nocardia were reported to exert effective control on soil-borne pathogens and help the host plants to mobilize and acquire macro- and micronutrients. Such novel actinomycetes with wide range of plant growth-promoting (PGP) and antagonistic traits need to be exploited for sustainable agriculture. This chapter gives a comprehensive analysis of important soil-borne diseases of chickpea and pigeonpea and how broad-spectrum actinomycetes, particularly Streptomyces spp., could be exploited for managing them

Genomic Approaches to Enhance Stress Tolerance for Productivity Improvements in Pearl Millet

Pearl millet [Pennisetum glaucum (L.) R. Br.], the sixth most important cereal crop (after rice, wheat, maize, barley, and sorghum), is grown as a grain and stover crop by the small holder farmers in the harshest cropping environments of the arid and semiarid tropical regions of sub-Saharan Africa and South Asia. Millet is grown on ~31 million hectares globally with India in South Asia; Nigeria, Niger, Burkina Faso, and Mali in western and central Africa; and Sudan, Uganda, and Tanzania in Eastern Africa as the major producers. Pearl millet provides food and nutritional security to more than 500 million of the world’s poorest and most nutritionally insecure people. Global pearl millet production has increased over the past 15 years, primarily due to availability of improved genetics and adoption of hybrids in India and expanding area under pearl millet production in West Africa. Pearl millet production is challenged by various biotic and abiotic stresses resulting in a significant reduction in yields. The genomics research in pearl millet lagged behind because of multiple reasons in the past. However, in the recent past, several efforts were initiated in genomic research resulting into a generation of large amounts of genomic resources and information including recently published sequence of the reference genome and re-sequencing of almost 1000 lines representing the global diversity. This chapter reviews the advances made in generating the genetic and genomics resources in pearl millet and their interventions in improving the stress tolerance to improve the productivity of this very important climate-smart nutri-cereal

Population-level risks of alcohol consumption by amount, geography, age, sex, and year: a systematic analysis for the Global Burden of Disease Study 2020

Background The health risks associated with moderate alcohol consumption continue to be debated. Small amounts of alcohol might lower the risk of some health outcomes but increase the risk of others, suggesting that the overall risk depends, in part, on background disease rates, which vary by region, age, sex, and year. Methods For this analysis, we constructed burden-weighted dose–response relative risk curves across 22 health outcomes to estimate the theoretical minimum risk exposure level (TMREL) and non-drinker equivalence (NDE), the consumption level at which the health risk is equivalent to that of a non-drinker, using disease rates from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2020 for 21 regions, including 204 countries and territories, by 5-year age group, sex, and year for individuals aged 15–95 years and older from 1990 to 2020. Based on the NDE, we quantified the population consuming harmful amounts of alcohol. Findings The burden-weighted relative risk curves for alcohol use varied by region and age. Among individuals aged 15–39 years in 2020, the TMREL varied between 0 (95% uncertainty interval 0–0) and 0·603 (0·400–1·00) standard drinks per day, and the NDE varied between 0·002 (0–0) and 1·75 (0·698–4·30) standard drinks per day. Among individuals aged 40 years and older, the burden-weighted relative risk curve was J-shaped for all regions, with a 2020 TMREL that ranged from 0·114 (0–0·403) to 1·87 (0·500–3·30) standard drinks per day and an NDE that ranged between 0·193 (0–0·900) and 6·94 (3·40–8·30) standard drinks per day. Among individuals consuming harmful amounts of alcohol in 2020, 59·1% (54·3–65·4) were aged 15–39 years and 76·9% (73·0–81·3) were male. Interpretation There is strong evidence to support recommendations on alcohol consumption varying by age and location. Stronger interventions, particularly those tailored towards younger individuals, are needed to reduce the substantial global health loss attributable to alcohol. Funding Bill & Melinda Gates Foundation

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Not AvailableAn experiment was conducted in the months of August to September to optimize dietary metabolizable energy (ME) needs of coloured broilers at Mukteshwar, Uttrakhand (8000 ft high from sea level). Unsexed day-old Caribro Dhanraja coloured broilers chicks (n=192) were divided into 12 groups of 16 each in each pen on deep litter. Two experimental diets with two levels of energy (2800 and 3000 kcal ME/kg diet) were formulated for each starting and finishing growth phase. The protein (21.0 and 18.2%), lysine (1.20 and 1.00), methionine (0.50 and 0.42%), calcium (1.20 and 1.10%) and available phosphorus (0.50 and 0.40%) in starting and finishing phases respectively were similar in both the dietary treatments. The gain in body weight did not differ during starting growth phase (0–3 wk) as well as during 0–7 wk age while differed significantly during 3–6, 3–7 and 0–6 wk period. Live weight gains were significantly higher in broilers fed 3000 kcal energy during 3–6, 3–7 and 0–6 wk of age. Feed intake though remained lower in high energy level but differed statistically during 0–3 weeks of age only. Feed conversion ratio differed during 3–6 and 0–6 weeks of age and was lower in birds fed high energy diet. Therefore, the results indicated that a diet containing 3000 kcal ME/kg for overall phase was suitable for broilers on high altitude of about 8000 ft during August to September.Not Availabl

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Not AvailableAn experiment was conducted during rainy season at high altitude of Kumaun region to optimize dietary needs of protein (limiting amino acid profile) employing 216 day-old broiler chickens (CARIBRO Dhanraja) divided into 12 groups of 18 each, reared on deep litter. Three experimental regimens with three levels of limiting amino acids (LAA; 115, 100 and 85% of NRC) were formulated at fixed energy level of 3000 kcal ME/kg. The protein levels were 21.9 and 20.2% (LAA115), 19.2 and 17.6% (LAA100) and 16.2 and 14.9 (LAA85) during starting and finishing phases, respectively. Each diet was fed to 4 replicated groups. During different phases of growth, the gain in BW, feed intake and FCR improved (P<0.01) in diets having LAA at 115 and 100% NRC levels than control diet. The birds fed LAA100 or LAA115 had similar BW gain, feed intake and FCR. Lower (P<0.01) BW gain and poorer feed conversion was observed in LAA85. The alkaline phosphatase, triglyceride, corticosteron and thyroxine did not differ except plasma calcium and triiodothyronine, which were higher (P<0.01) at high LAA115. The edible meat yield and eviscerated yields were significantly (P<0.01) lower in LAA110 group than LAA115 group. Therefore, the results indicated that a diet with limiting amino acid profile as suggested by NRC (1994) with 19.2 and 17.6% for starting and finishing period and 3000 kcal ME/kg for overall phase was suitable for broilers on high altitude of about 8000 ft.Not Availabl

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Not AvailableHuman interventions in the environment leading to higher green house gas emissions which are degrading the soil and environment quality. Traditional/conventional tillage systems following since inception and residue burning are accelerating the degradation of soil and environment leading to food insecurity. The present study was executed to evaluate energy budgeting, carbon foot prints, gaseous emission and soil health under conservation tillage with residue retention for identifying cleaner production technology in rice-maize system. The novelty of the study is that it examines the integrated effect of tillage, residue retention through mulching on GHG emission along with soil health, energy consumption and carbon footprints together as conservation effective measure for sustainable and clean agricultural production. Zero tillage reduced the energy consumption by 56% and carbon footprints by 39% and besides that N2O emission was 20% lower than conventional tillage. Apart from clean environment, soil health was also improved by adoption of zero tillage in terms of NPK status, labile pool of carbon and enzymatic activities; the population of all the microbiota was increased, which was around 21.3, 51.2 and 27.6% higher in bacteria, fungi and actinomycetes. Crop residue retention as residue mulching (rice straw) significantly improved the crop productivity, microbial biota and enzymatic activities of soil, but it increased the energy consumption and carbon footprints by around 10%. N2O emission was also enhanced by residue mulching, and higher the quantity of residue used as mulch, more was emission. Although in initial years some yield penalty (10–15%) was recorded but in long run zero tillage can be a step towards sustainability as it can be a valuable approach for resilient soil health and cleaner production of maize in rice–maize system.ICA