Genetic and environmental effects on crop development determining adaptation and yield

Slafer, Gustavo Ariel. ICREA - AGROTECNIO - Spain.Kantolic, Adriana Graciela. Universidad de Buenos Aires. Facultad de Agronomía. Buenos Aires, Argentina.Appendino, María Laura. Universidad de Buenos Aires. Facultad de Agronomía. Buenos Aires, Argentina.Tranquilli, Gabriela Edith. Instituto Nacional de Tecnología Agropecuaria (INTA). Recursos Naturales. Instituto de Recursos Biológicos. Buenos Aires, Argentina.Miralles, Daniel Julio. Universidad de Buenos Aires. Facultad de Agronomía. Buenos Aires, Argentina.Savin, Roxana. ICREA - AGROTECNIO - Spain.Crop development is a sequence of phenological events controlled by the genetic background and influenced by external factors, which determines changes in the morphology and/or function of organs (Landsberg, 1977). Although development is a continuous process, the ontogeny of a crop is frequently divided into discrete periods, for instance ‘vegetative’, ‘reproductive’ and ‘grain - filling’ phases (Slafer, 2012). Patterns of phenological development largely determine the adaptation of a crop to a certain range of environments. For example, genetic improvement in grain yield of wheat has been associated with shorter time from sowing to anthesis in Mediterranean environments of western Australia (Siddique et al., 1989), whereas no consistent trends in phenology were found where drought is present but not necessarily terminal, including environments of Argentina, Canada and the USA (Slafer and Andrade, 1989, 1993; Slafer et al., 1994a) (Fig. 12.1). Even in agricultural lands of the Mediterranean Basin where wheat has been grown for many centuries, breeding during the last century did not clearly change phenological patterns (Acreche et al., 2008). This chapter focuses on two major morphologically and hysiologically contrasting grain crops: wheat and soybean. For both species, we have an advanced understanding of development and physiology in general. Wheat is a determinate, long-day grass of temperate origin, which is responsive to vernalization. Soybean is a typically indeterminate (but with determinate intermediate variants), short-day grain legume of tropical origin, which is insensitive to vernalization. Comparisons with other species are used to highlight the similarities and differences. The aims of this chapter are to outline the developmental characteristics of grain crops and the links between phenology and yield, to revise the mechanisms of environmental and genetic control of development and to explore the possibilities of improving crop adaptation and yield potential through the fine-tuning of developmental patterns

Identification of new risk factors for rolandic epilepsy:CNV at Xp22.31 and alterations at cholinergic synapses

BackgroundRolandic epilepsy (RE) is the most common genetic childhood epilepsy, consisting of focal, nocturnal seizures and frequent neurodevelopmental impairments in speech, language, literacy and attention. A complex genetic aetiology is presumed in most, with monogenic mutations in GRIN2A accounting for &gt;5% of cases.ObjectiveTo identify rare, causal CNV in patients with RE.MethodsWe used high-density SNP arrays to analyse the presence of rare CNVs in 186 patients with RE from the UK, the USA, Sardinia, Argentina and Kerala, India.ResultsWe identified 84 patients with one or more rare CNVs, and, within this group, 14 (7.5%) with recurrent risk factor CNVs and 15 (8.0%) with likely pathogenic CNVs. Nine patients carried recurrent hotspot CNVs including at 16p13.11 and 1p36, with the most striking finding that four individuals (three from Sardinia) carried a duplication, and one a deletion, at Xp22.31. Five patients with RE carried a rare CNV that disrupted genes associated with other epilepsies (KCTD7, ARHGEF15, CACNA2D1, GRIN2A and ARHGEF4), and 17 cases carried CNVs that disrupted genes associated with other neurological conditions or that are involved in neuronal signalling/development. Network analysis of disrupted genes with high brain expression identified significant enrichment in pathways of the cholinergic synapse, guanine-exchange factor activation and the mammalian target of rapamycin.ConclusionOur results provide a CNV profile of an ethnically diverse cohort of patients with RE, uncovering new areas of research focus, and emphasise the importance of studying non-western European populations in oligogenic disorders to uncover a full picture of risk variation.</jats:sec

Risk factors for reading disability in families with rolandic epilepsy

OBJECTIVE: The high prevalence and impact of neurodevelopmental comorbidities in childhood epilepsy are now well known, as are the increased risks and familial aggregation of reading disability (RD) and speech sound disorder (SSD) in rolandic epilepsy (RE). The risk factors for RD in the general population include male sex, SSD and ADHD but it is not known if these are the same in RE or whether there is a contributory role of seizure and treatment related variables. METHODS: An observational study of 108 RE probands (age range 3.6–22 years) and their 159 siblings (age range 1–29 years; 83 with EEG data) singly ascertained in the US or UK through an affected RE proband. We used a nested case-control design, multiple logistic regression and generalized estimating equations to test the hypothesis of association between RD and seizure variables or antiepileptic drug treatment in RE; we also assessed an association between EEG focal sharp waves and RD in siblings. RESULTS: RD was reported in 42% of probands and 22% of siblings. Among probands, RD was strongly associated with a history of SSD (OR 9.64, 95% CI: 2.45–37.21), ADHD symptoms (OR 10.31, 95% CI: 2.15–49.44), and male sex (OR 3.62, 95% CI: 1.11–11.75), but not with seizure or treatment variables. Among siblings, RD was independently associated only with SSD (OR 4.30, 95%CI: 1.42–13.0) and not with the presence of interictal EEG focal sharp waves. SIGNIFICANCE: The principal risk factors for RD in RE are SSD, ADHD and male sex, the same risk factors as for RD without epilepsy. Seizure or treatment variables do not appear to be important risk factors for RD in RE probands, and there was no evidence to support interictal EEG focal sharp waves as a risk factor for RD in siblings. Future studies should focus on the precise neuropsychological characterisation of RD in RE families, and on the effectiveness of standard oral-language and reading interventions

Geoeconomic variations in epidemiology, ventilation management, and outcomes in invasively ventilated intensive care unit patients without acute respiratory distress syndrome: a pooled analysis of four observational studies

Background: Geoeconomic variations in epidemiology, the practice of ventilation, and outcome in invasively ventilated intensive care unit (ICU) patients without acute respiratory distress syndrome (ARDS) remain unexplored. In this analysis we aim to address these gaps using individual patient data of four large observational studies. Methods: In this pooled analysis we harmonised individual patient data from the ERICC, LUNG SAFE, PRoVENT, and PRoVENT-iMiC prospective observational studies, which were conducted from June, 2011, to December, 2018, in 534 ICUs in 54 countries. We used the 2016 World Bank classification to define two geoeconomic regions: middle-income countries (MICs) and high-income countries (HICs). ARDS was defined according to the Berlin criteria. Descriptive statistics were used to compare patients in MICs versus HICs. The primary outcome was the use of low tidal volume ventilation (LTVV) for the first 3 days of mechanical ventilation. Secondary outcomes were key ventilation parameters (tidal volume size, positive end-expiratory pressure, fraction of inspired oxygen, peak pressure, plateau pressure, driving pressure, and respiratory rate), patient characteristics, the risk for and actual development of acute respiratory distress syndrome after the first day of ventilation, duration of ventilation, ICU length of stay, and ICU mortality. Findings: Of the 7608 patients included in the original studies, this analysis included 3852 patients without ARDS, of whom 2345 were from MICs and 1507 were from HICs. Patients in MICs were younger, shorter and with a slightly lower body-mass index, more often had diabetes and active cancer, but less often chronic obstructive pulmonary disease and heart failure than patients from HICs. Sequential organ failure assessment scores were similar in MICs and HICs. Use of LTVV in MICs and HICs was comparable (42·4% vs 44·2%; absolute difference -1·69 [-9·58 to 6·11] p=0·67; data available in 3174 [82%] of 3852 patients). The median applied positive end expiratory pressure was lower in MICs than in HICs (5 [IQR 5-8] vs 6 [5-8] cm H2O; p=0·0011). ICU mortality was higher in MICs than in HICs (30·5% vs 19·9%; p=0·0004; adjusted effect 16·41% [95% CI 9·52-23·52]; p&lt;0·0001) and was inversely associated with gross domestic product (adjusted odds ratio for a US$10 000 increase per capita 0·80 [95% CI 0·75-0·86]; p&lt;0·0001). Interpretation: Despite similar disease severity and ventilation management, ICU mortality in patients without ARDS is higher in MICs than in HICs, with a strong association with country-level economic status