Ciencias de la Biología y Agronomía

Este volumen I contiene 17 capítulos arbitrados que se ocupan de estos asuntos en Tópicos Selectos de Ciencias de la Biología y Agronomía, elegidos de entre las contribuciones, reunimos algunos investigadores y estudiantes. Se presenta un Estudio Comparativo de los Recursos Hidrológico-Forestales de la Microcuenca de la Laguna de Epatlan, Pue. (1993 a 2014); la Situación Actual de la Mancha de Asfalto en Maíz (Zea mays L.) en los Municipios de Jiquipilas y Ocozocoautla, Chiapas, México; las poblaciones sobresalientes de maíz de la raza Zapalote Chico, en la Región Istmeña de Oaxaca; Se indica el índice de área foliar de cultivo de Chile Poblano mediante dos métodos en condiciones protegidas; Esquivel, Urzúa y Ramírez exploran el efecto de la biofertilización con Azospirillum en el crecimiento y producción de Jitomate; esbozan su artículo sobre la determinación del nivel de Heterosis en híbridos de Maíz para la Comarca Lagunera; una investigación sobre la estabilización de semilla de Solanum lycopersicum durante el almacenamiento y estimulación de la germinación; acotan sobre el CTAB como una nueva opción para la detección de Huanglongbing en cítricos, plantean su evaluación sobre el aluminio y cómo afecta la vida de florero de Heliconia psittacorum; indican sobre el impacto del H-564C, como un híbrido de maíz con alta calidad de proteina para el trópico húmedo de México; presetan su investigación sobre la producción de Piña Cayena Lisa y MD2 (Ananas comosus L.) en condiciones de Loma Bonita, en Oaxaca; acotan sobre el efecto de coberteras como control biológico por conservación contra áfidos en Nogal Pecanero; esbozan sobre la caracterización de cuatro genotipos de Frijol Negro en Martínez de la Torre, Veracruz, México; presentan una caracterización hidroecológica de la microcuenca de Arroyo Prieto, Yuriría, Gto., y alternativas para su restauración ambiental; presentan su investigación sobre el efecto del hongo Beauveria bassiana sobre solubilización de fosfatos y la disponibilidad de fósforo en el suelo; plantean su investigación sobre la Germinación y regeneración in vitro de Epidendrum falcatum LINDL; esbozan su artículo sobre genotipos de frijol negro y su tolerancia a sequía terminal en Veracruz, México

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical and genetic levels. Our main goal was to address the genetic landscape of IRD in the largest cohort of Spanish patients reported to date. A retrospective hospital-based cross-sectional study was carried out on 6089 IRD affected individuals (from 4403 unrelated families), referred for genetic testing from all the Spanish autonomous communities. Clinical, demographic and familiar data were collected from each patient, including family pedigree, age of appearance of visual symptoms, presence of any systemic findings and geographical origin. Genetic studies were performed to the 3951 families with available DNA using different molecular techniques. Overall, 53.2% (2100/3951) of the studied families were genetically characterized, and 1549 different likely causative variants in 142 genes were identified. The most common phenotype encountered is retinitis pigmentosa (RP) (55.6% of families, 2447/4403). The most recurrently mutated genes were PRPH2, ABCA4 and RS1 in autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL) NON-RP cases, respectively; RHO, USH2A and RPGR in AD, AR and XL for non-syndromic RP; and USH2A and MYO7A in syndromic IRD. Pathogenic variants c.3386G > T (p.Arg1129Leu) in ABCA4 and c.2276G > T (p.Cys759Phe) in USH2A were the most frequent variants identified. Our study provides the general landscape for IRD in Spain, reporting the largest cohort ever presented. Our results have important implications for genetic diagnosis, counselling and new therapeutic strategies to both the Spanish population and other related populations.This work was supported by the Instituto de Salud Carlos III (ISCIII) of the Spanish Ministry of Health (FIS; PI16/00425 and PI19/00321), Centro de Investigación Biomédica en Red Enfermedades Raras (CIBERER, 06/07/0036), IIS-FJD BioBank (PT13/0010/0012), Comunidad de Madrid (CAM, RAREGenomics Project, B2017/BMD-3721), European Regional Development Fund (FEDER), the Organización Nacional de Ciegos Españoles (ONCE), Fundación Ramón Areces, Fundación Conchita Rábago and the University Chair UAM-IIS-FJD of Genomic Medicine. Irene Perea-Romero is supported by a PhD fellowship from the predoctoral Program from ISCIII (FI17/00192). Ionut F. Iancu is supported by a grant from the Comunidad de Madrid (CAM, PEJ-2017-AI/BMD7256). Marta del Pozo-Valero is supported by a PhD grant from the Fundación Conchita Rábago. Berta Almoguera is supported by a Juan Rodes program from ISCIII (JR17/00020). Pablo Minguez is supported by a Miguel Servet program from ISCIII (CP16/00116). Marta Corton is supported by a Miguel Servet program from ISCIII (CPII17/00006). The funders played no role in study design, data collection, data analysis, manuscript preparation and/or publication decisions

Intra-rater (live vs. video assessment) and inter-rater (expert vs. novice) reliability of the test of gross motor development—Third edition

The Test of Gross Motor Development (TGMD) is one of the most common tools for assessing the fundamental movement skills (FMS) in children between 3 and 10 years. This study aimed to examine the intra-rater and inter-rater reliability of the TGMD—3rd Edition (TGMD-3) between expert and novice raters using live and video assessment. Five raters [2 experts and 3 novices (one of them BSc in Physical Education and Sport Science)] assessed and scored the performance of the TGMD-3 of 25 healthy children [Female: 60%; mean (standard deviation) age 9.16 (1.31)]. Schoolchildren were attending at one public elementary school during the academic year 2019–2020 from Santiago de Compostela (Spain). Raters scored each children performance through two viewing moods (live and slow-motion). The ICC (Intraclass Correlation Coefficient) was used to determine the agreement between raters. Our results showed moderate-to-excellent intra-rater reliability for overall score and locomotor and ball skills subscales; moderate-to-good inter-rater reliability for overall and ball skills; and poor-to-good for locomotor subscale. Higher intra-rater reliability was achieved by the expert raters and novice rater with physical education background compared to novice raters. However, the inter-rater reliability was more variable in all the raters regardless of their experience or background. No significant differences in reliability were found when comparing live and video assessments. For clinical practice, it would be recommended that raters reach an agreement before the assessment to avoid subjective interpretations that might distort the results.Ministerio de Ciencia, Innovación y Universidades (España) | Ref. RTI2018-096106-A-I00Ministerio de Ciencia, Innovación y Universidades (España) | Ref. FPU19/0201

Dissecting phenotypic traits linked to human resilience to Alzheimer's pathology

Clinico-pathological correlation studies and positron emission tomography amyloid imaging studies have shown that some individuals can tolerate substantial amounts of Alzheimer’s pathology in their brains without experiencing dementia. Few details are known about the neuropathological phenotype of these unique cases that might prove relevant to understanding human resilience to Alzheimer’s pathology. We conducted detailed quantitative histopathological and biochemical assessments on brains from non-demented individuals before death whose brains were free of substantial Alzheimer’s pathology, non-demented individuals before death but whose post-mortem examination demonstrated significant amounts of Alzheimer’s changes (‘mismatches’), and demented Alzheimer’s cases. Quantification of amyloid-β plaque burden, stereologically-based counts of neurofibrillary tangles, neurons and reactive glia, and morphological analyses of axons were performed in the multimodal association cortex lining the superior temporal sulcus. Levels of synaptic integrity markers, and soluble monomeric and multimeric amyloid-β and tau species were measured. Our results indicate that some individuals can accumulate equivalent loads of amyloid-β plaques and tangles to those found in demented Alzheimer’s cases without experiencing dementia. Analyses revealed four main phenotypic differences among these two groups: (i) mismatches had striking preservation of neuron numbers, synaptic markers and axonal geometry compared to demented cases; (ii) demented cases had significantly higher burdens of fibrillar thioflavin-S-positive plaques and of oligomeric amyloid-β deposits reactive to conformer-specific antibody NAB61 than mismatches; (iii) strong and selective accumulation of hyperphosphorylated soluble tau multimers into the synaptic compartment was noted in demented cases compared with controls but not in mismatches; and (iv) the robust glial activation accompanying amyloid-β and tau pathologies in demented cases was remarkably reduced in mismatches. Further biochemical measurements of soluble amyloid-β species—monomers, dimers and higher molecular weight oligomers—in total brain homogenates and synaptoneurosomal preparations failed to demonstrate significant differences between mismatches and demented cases. Together, these data suggest that amyloid-β plaques and tangles do not inevitably result in neural system derangement and dementia in all individuals. We identified distinct phenotypic characteristics in the profile of brain fibrillar and soluble amyloid-β and tau accrual and in the glial response that discriminated demented and non-demented individuals with high loads of Alzheimer’s pathology. Amyloid-β deposition in the form of fibrillar plaques and intimately related oligomeric amyloid-β assemblies, hyperphosphorylated soluble tau species localized in synapses, and glial activation emerged in this series as likely mediators of neurotoxicity and altered cognition, providing further insight into factors and pathways potentially involved in human susceptibility or resilience to Alzheimer’s pathological changes

Phylogenetic tree of NA sequences of the A(H1N1)pdm09 viruses for the period 2013.

<p>Sequences from Yucatan are indicated in blue, from other regions of Mexico in red and worldwide in black. Additional amino acid changes at the node are also indicated.</p

Amino acid changes and frequency of occurrence in the hemagglutinin (HA) protein of the influenza A(H1N1)pdm09 viruses isolated in Yucatan.

<p>Frequencies of detection for each mutation are also indicated for sequences from other regions of Mexico (non-Yucatan) and worldwide for the period 2012–2013. Percentages were calculated based on the total number of sequences analysed in this study (<i>n</i>). Empty cells indicate values = 0.</p

Schematic representation of the HA molecule of the A(H1N1)pdm09 virus.

<p>HA molecules were modelled using as template the crystal structure of A 2009 H1N1 virus hemagglutinin from A/California/04/2009 (PDB 3LZG). Molecules were generated under flusurver structural model database (<a href="http://flusurver.bii.a-star.edu.sg/" target="_blank">http://flusurver.bii.a-star.edu.sg</a>). Protein sequences were blast against A/California/07/2009 to identify differences on amino acid composition. Right side HA molecule was modelled based on the strain A/Yucatan/116/2013 to indicate localization of the amino acid change S162I (red oval). The HA molecule in the middle represents the amino acidic composition of the strain A/Yucatan/81/2013 indicating the position of the mutation A141T (blue oval). Mutations at residues V234I, K283E and E499K (HA2) placed these viruses in clade 6C. Left side molecule corresponds to the HA protein sequence of the strain A/Yucatan/18/2012.</p

Temporal occurrence of genetic variants in Yucatan.

<p>Viruses from Yucatan with changes in HA and NA were distributed in time from epidemiological week 23 to 38. The bars represent the total number of influenza cases reported by the Regional Laboratory. The clear section indicates the number of confirmed cases of influenza A(H1N1)pdm09 and the grey section indicates the number of influenza A(H1N1)pdm09 viruses with genetic changes in HA and NA (HA–A141T / HA–S162I / NA–N341S / NA–L206S). The black section corresponds to the number of samples negative to influenza A(H1N1)pdm09 virus.</p

Amino acid changes and frequency of detection in the Neuraminidase (NA) protein of the influenza A(H1N1)pdm09 virus isolated from Yucatan, Mexico (non-Yucatan) and other regions of the world for the period 2012–2013.

<p>Percentages were calculated based on the total number of sequences analysed in this study (<i>n</i>). Empty cells indicate values = 0.</p