Post-neodarwinismo

La conferencia aborda diferentes aspectos de lo que se ha dado en llamar post-neodarwinismo. Entre ellos, el que más repercusión mediática ha tenido ha sido la expansión de la cladística en detrimento de la sistemática de la teoría sintética. Por otra parte, el paradigma adaptativo ha sido sustituido por una visión más plural en la que la historia y los denominados "structural constraints" explican buena parte de la variación fenotípica observada. Para terminar se abordan problemas relacionados con los mecanismos de especiación.Universidad de Málaga. Campus de Excelencia Internacional Andalucía Tech

The use of ICT in the development of (meta)linguistic competence in children with language development difficulties - Virtualities of the “Boadmaker” programme in the development of teaching-learning strategies

El problema de la presente investigación se centra en la intervención psicopedagógica en Educación Especial, particularmente en las Tecnologías de la Información y de la Comunicación y en el desarrollo de las capacidades (meta)lingüísticas de los niños con disturbios en el desarrollo de la lenguaje. Incide en las potencialidades de un software educativo - “Boardmaker” para el desarrollo de estrategias de enseñanza/aprendizaje. En cuanto a la metodología de trabajo es un estudio de caso, exploratorio, con un diseño ABA de n=1 (intrasujeto). Considerando las teorías de los autores estudiados, los resultados de la investigación confirman la importancia de las Tecnologías de la Información y de la Comunicación en la educación y las ventajas del programa “Boardmaker” en el desarrollo de las capacidades lingüísticas del sujeto del estudioThe present study is centred in the psycho and pedagogical intervention in special education, particularly in the area of ICT and the development of linguistic competences among children with special educational needs. Emphasis is given to the “Boardmaker” programme as a medium for developing teaching-learning strategies. This is an exploratory case study with an ABA methodological design. Taking into account the theories of the authors studied, the research results confirm the importance of ICT in education and the advantages offered by the “Boardmaker” programme in the development of linguistic abilities among the subjects of the study.peerReviewe

Preliminary assessment of bone histology in the extinct elephant bird <i>Aepyornis</i> (Aves, Palaeognathae) from Madagascar

International audienceAepyornis, a giant subfossil ratite from Madagascar, shows a well-preserved bone histology. Hindlimb bones exhibit an extensive histodiversity; the cortex is initially made of fibrolamellar, well-vascularized primary bone that modulates locally into plexiform or laminar patterns. Lines of arrested growth are generally weakly expressed. Haversian reconstruction can be complete. Perimedullar endosteal deposition is variable but can be extensive. The complex causality (phylogenetic, systematic, ontogenetic and functional… factors) involved in the production of the observed data is discussed.Aepyornis, ratite géant subfossile de Madagascar, montre une histologie osseuse bien préservée. Les os longs des pattes présentent une forte diversité histologique ; l’os primaire des corticales est initialement du type général fibrolamellaire, fortement vascularisé selon des patrons plexiformes ou laminaires. Les lignes d’arrêt de croissance sont généralement peu exprimées. Le remaniement haversien peut être complet. Le dépôt endostéal périmédullaire est variable, mais peut être très important. La causalité complexe (facteurs phylogénétiques, systématiques, ontogénétiques, fonctionnels…) pouvant rendre compte des structures observées est abordée

HSP90 inhibition causes heterochronies in the skull ossification sequences of Pleurodeles waltl (Urodela). Evolutionary implications.

Heat-shock protein 90 (HSP90) is an ubiquitous chaperone in eukaryotes that facilitates folding of proteins both in normal conditions and in response to environmental stress. In addition, HSP90 is able to buffer genetic variation resulting from random mutations by regulating intracellular protein degradation mechanisms. It has been shown that experimental HSP90 inhibition produces anatomical variability during embryonic development in Arabidopsis, Drosophila and zebrafish. It is not clear whether these anatomical changes are caused by the expression of genomic cryptic mutations or by modifications of HSP90 dependent molecular pathways. However, several results suggest that HSP90 modulation is a relevant mechanism underlying the de novo appearance of character states. In order to test whether HSP90 is involved in the generation of apomorphic phenotypes in tetrapods, we pharmacologically inhibited HSP90 in Pleurodeles waltl (Urodela) embryos (n=141), by exposition to 10 µM Radicicol during the first 24 hours of development. Control specimens (n=20) received no treatment. The 54 surviving larvae were euthanatized at stages 46 (n=25) and 50 (n=29), and subjected to whole-mount double staining with alcian blue and alizarin red. All the control and 7 (13%) of the treated specimens were phenotypically normal. The remaining 47 (87%) larvae showed 20 abnormal phenotypes best described as heterochronic skull ossification sequences. Interestingly, these heterochronies fit the ossification sequences described in other urodele families. We propose that modulation of HSP90 function during the embryonic development, caused naturally by environmental stress, may underlay the evolutive modifications of skull ossification sequences in urodeles. New studies on the inheritance of the phenotypes obtained in untreated embryos from treated parents may confirm the plausibility of this hypothesis.Universidad de Málaga. Campus de Excelencia Internacional Andalucía Tech. FPU15/03209, EST17/00194 and University of Málaga

Falls predict acute hospitalization in Parkinson's disease

Background: There is a need for identifying risk factors for hospitalization in Parkinson's disease (PD) and also interventions to reduce acute hospital admission. Objective: To analyze the frequency, causes, and predictors of acute hospitalization (AH) in PD patients from a Spanish cohort. Methods: PD patients recruited from 35 centers of Spain from the COPPADIS-2015 (COhort of Patients with PArkinson's DIsease in Spain, 2015) cohort from January 2016 to November 2017, were included in the study. In order to identify predictors of AH, Kaplan-Meier estimates of factors considered as potential predictors were obtained and Cox regression performed on time to hospital encounter 1-year after the baseline visit. Results: Thirty-five out of 605 (5.8%) PD patients (62.5±8.9 years old; 59.8% males) presented an AH during the 1-year follow-up after the baseline visit. Traumatic falls represented the most frequent cause of admission, being 23.7% of all acute hospitalizations. To suffer from motor fluctuations (HR [hazard ratio] 2.461; 95% CI, 1.065-5.678; p = 0.035), a very severe non-motor symptoms burden (HR [hazard ratio] 2.828; 95% CI, 1.319-6.063; p = 0.008), falls (HR 3.966; 95% CI 1.757-8.470; p = 0.001), and dysphagia (HR 2.356; 95% CI 1.124-4.941; p = 0.023) was associated with AH after adjustment to age, gender, disease duration, levodopa equivalent daily dose, total number of non-antiparkinsonian drugs, and UPDRS-IIIOFF. Of the previous variables, only falls (HR 2.998; 95% CI 1.080-8.322; p = 0.035) was an independent predictor of AH. Conclusion: Falls is an independent predictor of AH in PD patients

La investigación desde sus protagonistas : senderos y estrategias

Este libro es el resultado de un trabajo de equipo multidisciplinar de investigadores que, durante dos años, ha estado discutiendo sobre el tema de la INVESTIGACIÓN desde sus respectivas perspectivas individuales. La riqueza particular de la obra proviene de que cada uno aportó su criterio y su experiencia y cada uno defendió su postura y se enriqueció con la de los demás (..) Lo que sí resultó notorio fue que varios de los autores descubrieron nuevas perspectivas para enriquecer sus propios esquemas y fue por eso que durante su elaboración, los proyectos y esquemas originales fueron variando a medida que el grupo avanzaba en el conocimiento mutuo y en el trabajo de discusión y análisis. (...) René Gotthelf (Dir.

Association between vitamin D receptor rs731236 (Taq1) polymorphism and risk for restless legs syndrome in the Spanish caucasian population

Varios trabajos recientes sugieren un posible papel de la deficiencia de vitamina D en la etiología o el síndrome de las piernas inquietas (RLS). Hemos analizado la posible relación de 2 polimorfismos de un solo nucleótido (SNP) en el receptor de la vitamina D3 (GEN VDR) con el riesgo de SPI. Hemos estudiado la variante alélica genotipo y frecuencias de VDR rs2228570 y rs731236 VDR SNPs en 205 RLS pacientes y 445 controles sanos mediante un ensayo TaqMan. Las frecuencias de los rs731236AAgenotype y la variante alélica rs731236un SPI fue significativamente inferior en los pacientes que en los controles (P<0,005 y 0,01, respectivamente). El síndrome de las piernas inquietas pacientes portadoras de la variante alélica rs731236G había una edad temprana en el inicio, y los portadores del genotipo GG731236rs tuvieron mayor severidad de RLS, aunque estos datos desaparecieron después de los análisis multivariados. Ninguno de los SNPs estudiados estaba relacionada con la positividad de la historia familiar de SPI. Estos resultados sugieren una modesta, pero significativa asociación entre rs731236 VDR SNP y el riesgo de síndrome de piernas inquietas.Several recent works suggest a possible role of vitamin D deficiency in the etiology or restless legs syndrome (RLS). We analyzed the possible relationship of 2 common single nucleotide polymorphisms (SNPs) in the vitamin D3 receptor (VDR) gene with the risk for RLS. We studied the genotype and allelic variant frequencies of VDR rs2228570 and VDR rs731236 SNPs in 205 RLS patients and 445 healthy controls using a TaqMan essay. The frequencies of the rs731236AAgenotype and the allelic variant rs731236A were significantly lower in RLS patients than in controls (P<0.005 and<0.01, respectively). Restless legs syndrome patients carrying the allelic variant rs731236G had an earlier age at onset, and those carrying the rs731236GG genotype had higher severity of RLS, although these data disappeared after multivariate analyses. None of the SNPs studied was related with the positivity of family history of RLS. These results suggest a modest, but significant association between VDR rs731236 SNP and the risk for RLS.• Instituto de Salud Carlos III, Madrid, Fondo de Investigación Sanitaria: Ayudas PI12/00241, PI12/00324, y RETICS RD12/0013/0002 • Junta de Extremadura: GR15026 y PRIS10016 • Ministerio de Ciencia e Innovación: Ayudas SAF2006-10126 (2006–2009) y SAF2010-22329-C02-01 (2011-2013) • Parciamente financiado con Fondos FEDERpeerReviewe

Heme oxygenase-1 and 2 common genetic variants and risk for restless legs syndrome

Varios neurotransmisores, neuropatológicos, neuroimagen, y los datos experimentales, sugieren que la deficiencia de hierro juega un papel importante en la fisiopatología del síndrome de piernas inquietas (RLS). HMOX (Hemeoxygenases) es un importante mecanismo de defensa contra el estrés oxidativo, principalmente a través de la degradación del hemo a biliverdin, libre de hierro, y monóxido de carbono. Hemos analizado si los genes HMOX1 y HMOX2 están relacionados con el riesgo de desarrollar el síndrome de piernas inquietas. Se analizó la distribución de genotipos y las frecuencias alélicas de los HMOX1 rs2071746, HMOX1 rs2071747, HMOX2 rs2270363 y rs1051308 HMOX2 SNPs, así como la presencia de variaciones de número de copia (CNVs) de estos genes en 205 sujetos RLS y 445 controles sanos. Las frecuencias de rs2071746 genotipo TT y R2071746T variante alélica fueron significativamente inferiores en los pacientes de SPI que en controles, aunque los otros 3 SNPs estudiados RLS no difirió entre pacientes y controles. Ninguno de los polimorfismos estudiados influyeron en el inicio de la enfermedad, la gravedad de la RLS, historia familiar de SPI, la ferritina sérica, o respuesta a agonistas dopaminérgicos, clonazepam o GABAergic drogas. El presente estudio sugiere una débil asociación entre el polimorfismo rs2071746 HMOX1 y el riesgo de desarrollar el SPI en la población española.Several neurochemical, neuropathological, neuroimaging, and experimental data, suggest that iron deficiency plays an important role in the pathophysiology of restless legs syndrome (RLS). Hemeoxygenases (HMOX) are an important defensive mechanism against oxidative stress, mainly through the degradation of heme to biliverdin, free iron, and carbon monoxide. We analyzed whether HMOX1 and HMOX2 genes are related with the risk to develop RLS. We analyzed the distribution of genotypes and allelic frequencies of the HMOX1 rs2071746, HMOX1 rs2071747, HMOX2 rs2270363, and HMOX2 rs1051308 SNPs, as well as the presence of Copy number variations (CNVs) of these genes in 205 subjects RLS and 445 healthy controls. The frequencies of rs2071746TT genotype and rs2071746T allelic variant were significantly lower in RLS patients than that in controls, although the other 3 studied SNPs did not differ between RLS patients and controls. None of the studied polymorphisms influenced the disease onset, severity of RLS, family history of RLS, serum ferritin levels, or response to dopaminergic agonist, clonazepam or GABAergic drugs. The present study suggests a weak association between HMOX1 rs2071746 polymorphism and the risk to develop RLS in the Spanish population.• Instituto de Salud Carlos III, Fondo de Investigación Sanitaria: Ayudas PI12/00241, PI12/00324 y RETICS RD12/0013/0002 • Junta de Extremadura: Ayuda GR10068 GR10068 y PRIS10016 (Fundesalud,Mérida, Spain) • Ministerio de Ciencia e Innovación: Ayudas SAF2006-10126 (2006–2009) y SAF2010-22329-C02-01 (2011–2013) • Parcialmente financiado Fondos FEDER – Fondo Europeo de Desarrollo RegionalpeerReviewe

Association between vitamin D receptor rs731236 (Taq1) polymorphism and risk for restless legs syndrome in the Spanish caucasian population

Varios trabajos recientes sugieren un posible papel de la deficiencia de vitamina D en la etiología o el síndrome de las piernas inquietas (RLS). Hemos analizado la posible relación de 2 polimorfismos de un solo nucleótido (SNP) en el receptor de la vitamina D3 (GEN VDR) con el riesgo de SPI. Hemos estudiado la variante alélica genotipo y frecuencias de VDR rs2228570 y rs731236 VDR SNPs en 205 RLS pacientes y 445 controles sanos mediante un ensayo TaqMan. Las frecuencias de los rs731236AAgenotype y la variante alélica rs731236un SPI fue significativamente inferior en los pacientes que en los controles (P<0,005 y 0,01, respectivamente). El síndrome de las piernas inquietas pacientes portadoras de la variante alélica rs731236G había una edad temprana en el inicio, y los portadores del genotipo GG731236rs tuvieron mayor severidad de RLS, aunque estos datos desaparecieron después de los análisis multivariados. Ninguno de los SNPs estudiados estaba relacionada con la positividad de la historia familiar de SPI. Estos resultados sugieren una modesta, pero significativa asociación entre rs731236 VDR SNP y el riesgo de síndrome de piernas inquietas.Several recent works suggest a possible role of vitamin D deficiency in the etiology or restless legs syndrome (RLS). We analyzed the possible relationship of 2 common single nucleotide polymorphisms (SNPs) in the vitamin D3 receptor (VDR) gene with the risk for RLS. We studied the genotype and allelic variant frequencies of VDR rs2228570 and VDR rs731236 SNPs in 205 RLS patients and 445 healthy controls using a TaqMan essay. The frequencies of the rs731236AAgenotype and the allelic variant rs731236A were significantly lower in RLS patients than in controls (P<0.005 and<0.01, respectively). Restless legs syndrome patients carrying the allelic variant rs731236G had an earlier age at onset, and those carrying the rs731236GG genotype had higher severity of RLS, although these data disappeared after multivariate analyses. None of the SNPs studied was related with the positivity of family history of RLS. These results suggest a modest, but significant association between VDR rs731236 SNP and the risk for RLS.• Instituto de Salud Carlos III, Madrid, Fondo de Investigación Sanitaria: Ayudas PI12/00241, PI12/00324, y RETICS RD12/0013/0002 • Junta de Extremadura: GR15026 y PRIS10016 • Ministerio de Ciencia e Innovación: Ayudas SAF2006-10126 (2006–2009) y SAF2010-22329-C02-01 (2011-2013) • Parciamente financiado con Fondos FEDERpeerReviewe

Predictors of Global Non-Motor Symptoms Burden Progression in Parkinson’s Disease. Results from the COPPADIS Cohort at 2-Year Follow-Up

Background and Objective: Non-motor symptoms (NMS) progress in different ways between Parkinson's disease (PD) patients. The aim of the present study was to (1) analyze the change in global NMS burden in a PD cohort after a 2-year follow-up, (2) to compare the changes with a control group, and (3) to identify predictors of global NMS burden progression in the PD group. Material and Methods: PD patients and controls, recruited from 35 centers of Spain from the COPPADIS cohort from January 2016 to November 2017, were followed-up with after 2 years. The Non-Motor Symptoms Scale (NMSS) was administered at baseline (V0) and at 24 months ± 1 month (V2). Linear regression models were used for determining predictive factors of global NMS burden progression (NMSS total score change from V0 to V2 as dependent variable). Results: After the 2-year follow-up, the mean NMS burden (NMSS total score) significantly increased in PD patients by 18.8% (from 45.08 ± 37.62 to 53.55 ± 42.28; p < 0.0001; N = 501; 60.2% males, mean age 62.59 ± 8.91) compared to no change observed in controls (from 14.74 ± 18.72 to 14.65 ± 21.82; p = 0.428; N = 122; 49.5% males, mean age 60.99 ± 8.32) (p < 0.0001). NMSS total score at baseline (β = -0.52), change from V0 to V2 in PDSS (Parkinson's Disease Sleep Scale) (β = -0.34), and change from V0 to V2 in NPI (Neuropsychiatric Inventory) (β = 0.25) provided the highest contributions to the model (adjusted R-squared 0.41; Durbin-Watson test = 1.865). Conclusions: Global NMS burden demonstrates short-term progression in PD patients but not in controls and identifies worsening sleep problems and neuropsychiatric symptoms as significant independent predictors of this NMS progression