17 research outputs found

    Whole-Genome SNP Association in the Horse: Identification of a Deletion in Myosin Va Responsible for Lavender Foal Syndrome

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    Lavender Foal Syndrome (LFS) is a lethal inherited disease of horses with a suspected autosomal recessive mode of inheritance. LFS has been primarily diagnosed in a subgroup of the Arabian breed, the Egyptian Arabian horse. The condition is characterized by multiple neurological abnormalities and a dilute coat color. Candidate genes based on comparative phenotypes in mice and humans include the ras-associated protein RAB27a (RAB27A) and myosin Va (MYO5A). Here we report mapping of the locus responsible for LFS using a small set of 36 horses segregating for LFS. These horses were genotyped using a newly available single nucleotide polymorphism (SNP) chip containing 56,402 discriminatory elements. The whole genome scan identified an associated region containing these two functional candidate genes. Exon sequencing of the MYO5A gene from an affected foal revealed a single base deletion in exon 30 that changes the reading frame and introduces a premature stop codon. A PCR–based Restriction Fragment Length Polymorphism (PCR–RFLP) assay was designed and used to investigate the frequency of the mutant gene. All affected horses tested were homozygous for this mutation. Heterozygous carriers were detected in high frequency in families segregating for this trait, and the frequency of carriers in unrelated Egyptian Arabians was 10.3%. The mapping and discovery of the LFS mutation represents the first successful use of whole-genome SNP scanning in the horse for any trait. The RFLP assay can be used to assist breeders in avoiding carrier-to-carrier matings and thus in preventing the birth of affected foals

    Impact of COVID-19 on cardiovascular testing in the United States versus the rest of the world

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    Objectives: This study sought to quantify and compare the decline in volumes of cardiovascular procedures between the United States and non-US institutions during the early phase of the coronavirus disease-2019 (COVID-19) pandemic. Background: The COVID-19 pandemic has disrupted the care of many non-COVID-19 illnesses. Reductions in diagnostic cardiovascular testing around the world have led to concerns over the implications of reduced testing for cardiovascular disease (CVD) morbidity and mortality. Methods: Data were submitted to the INCAPS-COVID (International Atomic Energy Agency Non-Invasive Cardiology Protocols Study of COVID-19), a multinational registry comprising 909 institutions in 108 countries (including 155 facilities in 40 U.S. states), assessing the impact of the COVID-19 pandemic on volumes of diagnostic cardiovascular procedures. Data were obtained for April 2020 and compared with volumes of baseline procedures from March 2019. We compared laboratory characteristics, practices, and procedure volumes between U.S. and non-U.S. facilities and between U.S. geographic regions and identified factors associated with volume reduction in the United States. Results: Reductions in the volumes of procedures in the United States were similar to those in non-U.S. facilities (68% vs. 63%, respectively; p = 0.237), although U.S. facilities reported greater reductions in invasive coronary angiography (69% vs. 53%, respectively; p < 0.001). Significantly more U.S. facilities reported increased use of telehealth and patient screening measures than non-U.S. facilities, such as temperature checks, symptom screenings, and COVID-19 testing. Reductions in volumes of procedures differed between U.S. regions, with larger declines observed in the Northeast (76%) and Midwest (74%) than in the South (62%) and West (44%). Prevalence of COVID-19, staff redeployments, outpatient centers, and urban centers were associated with greater reductions in volume in U.S. facilities in a multivariable analysis. Conclusions: We observed marked reductions in U.S. cardiovascular testing in the early phase of the pandemic and significant variability between U.S. regions. The association between reductions of volumes and COVID-19 prevalence in the United States highlighted the need for proactive efforts to maintain access to cardiovascular testing in areas most affected by outbreaks of COVID-19 infection

    Metabolic components of cattle under light and heavy rates of stocking in 1970

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    September 1971.On cover: Grassland Biome, Ecosystem analysis studies, U.S. International Biological Program.Includes bibliographical references

    Análise de vinte genótipos de sorgo (Sorghum bicolor (L.) Moench), de portes médio e alto, pertencentes ao ensaio nacional Analysis of twenty genotypes of sorghum (Sorghum bicolor (L.) Moench) of medium and high status from the national assay

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    Os vinte genótipos de sorgo estudados foram cultivados e ensilados aos 104 dias de idade, em estádio de grão pastoso, em silos de laboratório de "PVC", com 10 cm de diâmetro e 40 cm de comprimento. Os silos foram abertos aos 150 dias após a ensilagem. O delineamento adotado foi o inteiramente casualizado. No material estudado (verde e ensilado), foram determinados os valores de fibra em detergente neutro (FDN), fibra em detergente ácido (FDA), hemicelulose, celulose, lignina, cinzas totais, matéria seca (MS), proteína bruta (PB) e carboidratos solúveis em álcool, que apresentaram valores médios de 61,8; 34,2; 27,5; 29,5; 4,6; 3,8; 25,7; 7,7; e 8,5% no material original e de 55,9; 32,6; 23,3; 28,5; 3,9; 4,0; 27,5; 8,6; e 0,8% nas silagens, respectivamente. Os valores de hemicelulose e celulose diminuíram com a ensilagem, indicando que tais frações forneceram carboidratos adicionais para a fermentação. Os teores de carboidratos solúveis do material original foram altos para todos os genótipos, sendo intensamente consumidos no silo, garantindo bom padrão de fermentação. Nas silagens, os valores de pH foram, em média, 3,5 e os teores de nitrogênio amoniacal, inferiores a 8%, em todos os genótipos. As silagens estudadas apresentaram-se iguais para todas as características pesquisadas.<br>The twenty studied genotypes of sorghum were cultivated and ensiled at 104 days of age, at dough grain phase, using "PVC" lab silos, presenting 10 cm diameter and 40 cm length. The silos were opened at 150 days after ensiling. A completely randomized experimental design was used. In the studied material (fresh and ensiled) the values of neutral detergent fiber (NDF), acid detergent fiber (ADF), hemicellulose, cellulose, lignin, total ash, dry matter (DM), crude protein (CP) and alcool soluble carbohydrates were determined. The mean values were of 61.8, 34.2, 27.5, 29.5, 4.6, 3.8, 25.7, 7.7 and 8.5% in the fresh matter and of 55.9, 32.6, 23.3, 28.5, 3.9, 4.0, 27.5, 8.6 and 0.8% in the silages, respectively. The hemicellulose and cellulose values decreased with ensiling, indicating that those fractions contributed with additional carbohydrates for the fermentation. The soluble carbohydrates values of the fresh material were higher for all genotypes, being intensively used in the silo, supplying a good fermentation standard. In the silages, the pH values were 3.5 and ammoniacal nitrogen (N-NH3) contents were inferior to 8.0% in all genotypes. The studied silages showed similar for all evaluating characteristics
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