Efecto de marcadores genéticos moleculares en genes inducibles por hipoxia de bovinos criollos y Brown Swiss criados en los Andes de Perú

The genomes of 41 bovines of five breeds, existing in the SRA-NCBI database, were used to identify 17 single nucleotide polymorphisms (SNPs) which generate non-synonymous mutations in 10 hypoxia-inducible genes. Of this, only three SNPs located in positions c.1081G>C, c.2089G>A and c.2101G>A of exons 7 and 12 of the EPAS1 gene had different allelic frequencies between beef and dairy cattle (p<0.05). Based on the results of the bioinformatic analysis of the genomes, exonic regions of the EPAS1, NOS2, EPO and VEGFA genes were chosen, which were studied in 60 DNA samples from Creole and Brown Swiss cattle raised in the high Andean region (3213-4309 m above sea level). The cattle were grouped by their haemoglobin concentration (Hb) in Brown Swiss with high Hb (BSHbA) (n=13), Brown Swiss with low Hb (BSHbB) (n=11), Creoles with high Hb (CRHbA) (n=13) and Creoles with low Hb (CRHbB) (n=12); in addition, there was a Brown Swiss group with brisket disease (BSMA) (n=11). The generated amplicons were sequenced with the Sanger methodology, identifying 10 SNPs; however, no associations were found between these SNPs and the groups considered. Only one SNP located at the intronic position Cr.19: 19403681T>C of the NOS2 gene had a different frequency between Creole and Brown Swiss cattle (p<0.05). In addition, that SNP was found linked to two others that are in exon 12 of the same gene.Los genomas de 41 bovinos de cinco razas existentes en la base de datos del SRA-NCBI, fueron usados para identificar 17 polimorfismos de nucleótido simple (PNSs), los cuales generan mutaciones no sinónimas en 10 genes inducibles por hipoxia. De ese total, solo tres PNSs ubicados en las posiciones c.1081G>C, c.2089G>A y c.2101G>A de los exones 7 y 12 del gen EPAS1 tuvieron frecuencias alélicas diferentes entre bovinos cárnicos y lecheros (p<0.05). Basados en los resultados del análisis bioinformático de los genomas, se eligieron regiones exónicas de los genes EPAS1, NOS2, EPO y VEGFA, que fueron estudiadas en 60 muestras de ADN de bovinos criollos y Brown Swiss criados en la región altoandina (3213-4309 msnm). Los bovinos fueron agrupados por su concentración de hemoglobina (Hb) en Brown Swiss con Hb alta (BSHbA) (n=13), Brown Swiss con Hb baja (BSHbB) (n=11), criollos con Hb alta (CRHbA) (n=13) y criollos con Hb baja (CRHbB) (n=12); además se tuvo un grupo de Brown Swiss con mal de altura (BSMA) (n=11). Los amplicones generados fueron secuenciados con la metodología Sanger, identificándose 10 PNSs. No se encontraron asociaciones entre estos PNSs y los grupos considerados. Únicamente un PNS ubicado en la posición intrόnica Cr.19: 19403681T>C del gen NOS2 tuvo frecuencia diferente entre bovinos criollos y Brown Swiss (p<0.05); además dicho PNS se encontró ligado a otros dos que están ubicados en el exón 12 del mismo gen

Mortality from gastrointestinal congenital anomalies at 264 hospitals in 74 low-income, middle-income, and high-income countries: a multicentre, international, prospective cohort study

Background: Congenital anomalies are the fifth leading cause of mortality in children younger than 5 years globally. Many gastrointestinal congenital anomalies are fatal without timely access to neonatal surgical care, but few studies have been done on these conditions in low-income and middle-income countries (LMICs). We compared outcomes of the seven most common gastrointestinal congenital anomalies in low-income, middle-income, and high-income countries globally, and identified factors associated with mortality. // Methods: We did a multicentre, international prospective cohort study of patients younger than 16 years, presenting to hospital for the first time with oesophageal atresia, congenital diaphragmatic hernia, intestinal atresia, gastroschisis, exomphalos, anorectal malformation, and Hirschsprung's disease. Recruitment was of consecutive patients for a minimum of 1 month between October, 2018, and April, 2019. We collected data on patient demographics, clinical status, interventions, and outcomes using the REDCap platform. Patients were followed up for 30 days after primary intervention, or 30 days after admission if they did not receive an intervention. The primary outcome was all-cause, in-hospital mortality for all conditions combined and each condition individually, stratified by country income status. We did a complete case analysis. // Findings: We included 3849 patients with 3975 study conditions (560 with oesophageal atresia, 448 with congenital diaphragmatic hernia, 681 with intestinal atresia, 453 with gastroschisis, 325 with exomphalos, 991 with anorectal malformation, and 517 with Hirschsprung's disease) from 264 hospitals (89 in high-income countries, 166 in middle-income countries, and nine in low-income countries) in 74 countries. Of the 3849 patients, 2231 (58·0%) were male. Median gestational age at birth was 38 weeks (IQR 36–39) and median bodyweight at presentation was 2·8 kg (2·3–3·3). Mortality among all patients was 37 (39·8%) of 93 in low-income countries, 583 (20·4%) of 2860 in middle-income countries, and 50 (5·6%) of 896 in high-income countries (p<0·0001 between all country income groups). Gastroschisis had the greatest difference in mortality between country income strata (nine [90·0%] of ten in low-income countries, 97 [31·9%] of 304 in middle-income countries, and two [1·4%] of 139 in high-income countries; p≤0·0001 between all country income groups). Factors significantly associated with higher mortality for all patients combined included country income status (low-income vs high-income countries, risk ratio 2·78 [95% CI 1·88–4·11], p<0·0001; middle-income vs high-income countries, 2·11 [1·59–2·79], p<0·0001), sepsis at presentation (1·20 [1·04–1·40], p=0·016), higher American Society of Anesthesiologists (ASA) score at primary intervention (ASA 4–5 vs ASA 1–2, 1·82 [1·40–2·35], p<0·0001; ASA 3 vs ASA 1–2, 1·58, [1·30–1·92], p<0·0001]), surgical safety checklist not used (1·39 [1·02–1·90], p=0·035), and ventilation or parenteral nutrition unavailable when needed (ventilation 1·96, [1·41–2·71], p=0·0001; parenteral nutrition 1·35, [1·05–1·74], p=0·018). Administration of parenteral nutrition (0·61, [0·47–0·79], p=0·0002) and use of a peripherally inserted central catheter (0·65 [0·50–0·86], p=0·0024) or percutaneous central line (0·69 [0·48–1·00], p=0·049) were associated with lower mortality. // Interpretation: Unacceptable differences in mortality exist for gastrointestinal congenital anomalies between low-income, middle-income, and high-income countries. Improving access to quality neonatal surgical care in LMICs will be vital to achieve Sustainable Development Goal 3.2 of ending preventable deaths in neonates and children younger than 5 years by 2030

Deaf readers benefit from lexical feedback during orthographic processing

It has been proposed that poor reading abilities in deaf readers might be related to weak connections between the orthographic and lexical-semantic levels of processing. Here we used event related potentials (ERPs), known for their excellent time resolution, to examine whether lexical feedback modulates early orthographic processing. Twenty congenitally deaf readers made lexical decisions to target words and pseudowords. Each of those target stimuli could be preceded by a briefly presented matched-case or mismatched-case identity prime (e.g., ALTAR-ALTAR vs. altar- ALTAR). Results showed an early effect of case overlap at the N/P150 for all targets. Critically, this effect disappeared for words but not for pseudowords, at the N250—an ERP component sensitive to orthographic processing. This dissociation in the effect of case for word and pseudowords targets provides strong evidence of early automatic lexical-semantic feedback modulating orthographic processing in deaf readers. Interestingly, despite the dissociation found in the ERP data, behavioural responses to words still benefited from the physical overlap between prime and target, particularly in less skilled readers and those with less experience with words. Overall, our results support the idea that skilled deaf readers have a stronger connection between the orthographic and the lexical-semantic levels of processing

Mortality from gastrointestinal congenital anomalies at 264 hospitals in 74 low-income, middle-income, and high-income countries: a multicentre, international, prospective cohort study

Summary Background Congenital anomalies are the fifth leading cause of mortality in children younger than 5 years globally. Many gastrointestinal congenital anomalies are fatal without timely access to neonatal surgical care, but few studies have been done on these conditions in low-income and middle-income countries (LMICs). We compared outcomes of the seven most common gastrointestinal congenital anomalies in low-income, middle-income, and high-income countries globally, and identified factors associated with mortality. Methods We did a multicentre, international prospective cohort study of patients younger than 16 years, presenting to hospital for the first time with oesophageal atresia, congenital diaphragmatic hernia, intestinal atresia, gastroschisis, exomphalos, anorectal malformation, and Hirschsprung’s disease. Recruitment was of consecutive patients for a minimum of 1 month between October, 2018, and April, 2019. We collected data on patient demographics, clinical status, interventions, and outcomes using the REDCap platform. Patients were followed up for 30 days after primary intervention, or 30 days after admission if they did not receive an intervention. The primary outcome was all-cause, in-hospital mortality for all conditions combined and each condition individually, stratified by country income status. We did a complete case analysis. Findings We included 3849 patients with 3975 study conditions (560 with oesophageal atresia, 448 with congenital diaphragmatic hernia, 681 with intestinal atresia, 453 with gastroschisis, 325 with exomphalos, 991 with anorectal malformation, and 517 with Hirschsprung’s disease) from 264 hospitals (89 in high-income countries, 166 in middleincome countries, and nine in low-income countries) in 74 countries. Of the 3849 patients, 2231 (58·0%) were male. Median gestational age at birth was 38 weeks (IQR 36–39) and median bodyweight at presentation was 2·8 kg (2·3–3·3). Mortality among all patients was 37 (39·8%) of 93 in low-income countries, 583 (20·4%) of 2860 in middle-income countries, and 50 (5·6%) of 896 in high-income countries (p<0·0001 between all country income groups). Gastroschisis had the greatest difference in mortality between country income strata (nine [90·0%] of ten in lowincome countries, 97 [31·9%] of 304 in middle-income countries, and two [1·4%] of 139 in high-income countries; p≤0·0001 between all country income groups). Factors significantly associated with higher mortality for all patients combined included country income status (low-income vs high-income countries, risk ratio 2·78 [95% CI 1·88–4·11], p<0·0001; middle-income vs high-income countries, 2·11 [1·59–2·79], p<0·0001), sepsis at presentation (1·20 [1·04–1·40], p=0·016), higher American Society of Anesthesiologists (ASA) score at primary intervention (ASA 4–5 vs ASA 1–2, 1·82 [1·40–2·35], p<0·0001; ASA 3 vs ASA 1–2, 1·58, [1·30–1·92], p<0·0001]), surgical safety checklist not used (1·39 [1·02–1·90], p=0·035), and ventilation or parenteral nutrition unavailable when needed (ventilation 1·96, [1·41–2·71], p=0·0001; parenteral nutrition 1·35, [1·05–1·74], p=0·018). Administration of parenteral nutrition (0·61, [0·47–0·79], p=0·0002) and use of a peripherally inserted central catheter (0·65 [0·50–0·86], p=0·0024) or percutaneous central line (0·69 [0·48–1·00], p=0·049) were associated with lower mortality. Interpretation Unacceptable differences in mortality exist for gastrointestinal congenital anomalies between lowincome, middle-income, and high-income countries. Improving access to quality neonatal surgical care in LMICs will be vital to achieve Sustainable Development Goal 3.2 of ending preventable deaths in neonates and children younger than 5 years by 2030

Ecological risk assessment of current-use pesticides and biocides in soils, sediments and surface water of a mixed land-use basin of the Pampas region, Argentina

The present study aimed to assess the ecological risk of 30 current-use agricultural pesticides and biocides in the soil, sediments and aquatic organisms of a mixed land-use basin located in the Depressed Pampas Region of Argentina. Risk Quotients (RQs) were used to evaluate the chronic risk in soil and aquatic organisms, while Toxic Units (TUs) were used to assess the acute risk in sediment-dwelling organisms and aquatic biota. Acetochlor, hydroxy-atrazine, glyphosate, AMPA, metolachlor, imidacloprid and tebuconazole were the only pesticide residues detected (>30%) and quantified in all the matrices evaluated. Glyphosate and AMPA showed the highest concentrations, being their mean and maximum levels 27.90–176.00 μg kg−1 and 270–712.50 μg kg−1 in soils, 8.28–32.0 μg kg−1 and 6.85–17.50 μg kg−1 in sediments, and 1.88–4.36 μg L−1 and 0.66–1.03 μg L−1 in surface water. The RQs in soils showed high chronic risk, mainly due to AMPA and imidacloprid. The TUs in sediments showed acute risk in dwelling organisms, mainly due to glyphosate and imidacloprid. RQs assessment showed a range of chronic risk levels according to the site/sampling event, with higher contribution of atrazine and its metabolites, and acetochlor, whereas TUs assessment showed no acute risk in aquatic biota. In contrast to Europe, in Argentina, there are no restrictions regarding the use of atrazine, acetochlor, imidacloprid and glyphosate to protect aquatic life. Thus, it is recommended that the current Argentine pesticide regulations should be modified to prevent ecological risk and protect ecosystems.Fil: Pérez, Débora Jesabel. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Instituto Nacional de Tecnología Agropecuaria; ArgentinaFil: Iturburu, Fernando Gastón. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Mar del Plata. Instituto de Investigaciones Marinas y Costeras. Universidad Nacional de Mar del Plata. Facultad de Ciencias Exactas y Naturales. Instituto de Investigaciones Marinas y Costeras; ArgentinaFil: Calderon, Gabriela. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad Nacional de Mar del Plata. Facultad de Arquitectura, Urbanismo y Diseño. Instituto de Hábitat y Medio Ambiente; ArgentinaFil: Oyesqui, Lía A. E.. Instituto Nacional de Tecnología Agropecuaria; ArgentinaFil: de Gerónimo, Eduardo. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Instituto Nacional de Tecnología Agropecuaria; ArgentinaFil: Aparicio, Virginia Carolina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Mar del Plata. Instituto de Innovación para la Producción Agropecuaria y el Desarrollo Sostenible - Instituto Nacional de Tecnología Agropecuaria. Centro Regional Buenos Aires Sur. Estación Experimental Agropecuaria Balcarce. Instituto de Innovación para la Producción Agropecuaria y el Desarrollo Sostenible; Argentin