Interrupció del creixement en la hibernació del gripau corredor (Epidelea calamita) en zones semiàrides

Les particularitats de les poblacions amfíbiques que viuen en zones semiàrides sotmeses a un alt estrès ambiental es posen de manifest mitjançant estudis d'esqueletocronologia. L'estudi pretén avaluar la correlació histològica entre les marques de creixement (lines of arrested growth [LAG]) que es visualitzen en les falanges dels dits i l'edat d'individus de gripau corredor (Epidelea calamita). Existeix una correspondència entre el nombre de LAG i el nombre d'hibernacions, de manera que, en un principi, s'entén cada una de les línies com un any de vida de l'individu. En els resultats trobats mitjançant l'anàlisi dels talls de les falanges, s'aprecien un conjunt de línies múltiples que es consideren com una hibernació interrompuda per petits creixements durant els períodes més càlids de l'hivern i en certa part també per les ocasionals precipitacions. Els resultats obtinguts suggereixen l'existència d'un patró de creixement, en les poblacions d'amfibis en zones semiàrides, diferent de qualsevol altre trobat en amfibis de zones temperades.The biology of amphibian populations in semiarid zones that suffer environmental stress can be revealed through skeletochronological studies. These studies aim to determine the age of natterjack toads from the lines of arrested growth (LAG) that can be observed in the phalanges. There is a correspondence between the number of LAGs and the number of hibernation so that in principle one LAG means one year of life. In the analysis of the phalanges we found a group of multiples lines, which we considered to be the result of a hibernation interrupted by short phases of growth during warmer periods in winter and also to some extent by the occasional precipitation. The results obtained suggest a pattern of growth in amphibian populations in semi-arid zones that is different from any found in amphibian in temperate zones.Las particularidades de las poblaciones de anfibios que viven en zonas semiáridas sometidas a un elevado estrés ambiental se ponen de manifiesto mediante estudios esqueletocronológicos. El estudio pretende evaluar la correlación histológica entre las marcas de crecimiento (lines of arrested growth [LAG]) visibles en las falanges de los dedos y la edad de individuos del sapo corredor (Epidelea calamita). Existe una correspondencia entre el número de LAG y el número de hibernaciones, de manera que, en principio, cada una de las líneas de crecimiento se traduce en un año de vida del individuo. En los resultados encontrados mediante el análisis de los cortes de las falanges, se puede apreciar un conjunto de líneas múltiples que se consideran como una hibernación interrumpida por pequeños crecimientos durante los períodos más cálidos del invierno y ocasionalmente por las precipitaciones. Los resultados obtenidos sugieren la existencia de un patrón de crecimiento, en las poblaciones de anfibios de zonas semiáridas, diferente a cualquier otro encontrado hasta el momento en anfibios de zonas temperadas

Comportament termoregulador del gripau corredor (Bufo calamita) en una zona semiàrida

Les temperatures corporals de quinze gripaus corredors (Bufo calamita) adults foren mesurades en diferents anys (2006, 2007 i 2008) i èpoques de l?any (estiu, hivern) mitjançant la utilització de radioemissors implantats a la cavitat abdominal dels gripaus. La zona d?estudi estava en una zona semiàrida del sud de Lleida. La majoria dels gripaus estudiats afronten temperatures extremes presentant un comportament termoregulador. La majoria dels gripaus a l?hivern (6/8) presentaren una relació significativa entre la temperatura corporal i l?ambiental, mentre que a l?estiu tan sols un gripau la mostrava. Aquest resultat suggereix que els gripaus, a l?estiu, es refugien en llocs on la temperatura presenta poques variacions. Una possible explicació podria ser que els gripaus trien refugis amb humitat òptima i baixes temperatures. Es suggereix que les relacions entre la temperatura ambiental i la corporal reflecteixen l?intent de mantenir-se en un estat òptim d?hidratació que només s?aconsegueix a l?estiu en llocs relativament freds.L as temperaturas corporales de 15 sapos corredores (Bufo calamita) adultos fueron estudiadas en diferentes años (2006, 2007 y 2008) y épocas del año (verano, invierno) mediante la utilización de radioemisores implantados en la cavidad abdominal. La zona de estudio se hallaba en una zona semiárida del sur de Lleida. La mayoría de los sapos estudiados afrontan temperaturas extremas presentando un comportamiento termorregulador. La mayoría los sapos en invierno (6/9) presentaron una relación significativa entre temperatura corporal y ambiental, mientras que en verano tan sólo un sapo la mostraba significativa. Este resultado sugiere que los sapos, especialmente en verano, se refugian en lugares donde la temperatura presenta pocas variaciones. Una posible explicación sería que los sapos eligen refugios con humedad óptima y bajas temperaturas. Se sugiere, que las relaciones entre la temperatura ambiental y la corporal reflejan un estado óptimo de hidratación que sólo puede conseguirse en verano en lugares relativamente fríos.Body temperatures of 15 adult toads (Bufo calamita) were measured in different years (2006, 2007 and 2008) and seasons (summer, winter) using implanted transmitters into the toad abdominal cavity. The study zone is situated in the south of the Terres de Lleida (Catalonia, Sapin) The major part of the animals monitored (6/9) in winter showed a significant relationship between body and ambient temperature, but in summer, only one toad showed this significant relationship. The result suggests that toads, especially in summer, took refuge in places where the temperature remained in a small range of variation. Toads could chose shelters with humidity and cold temperature, in comparison to ambient temperature, suggesting that the relationship between environmental and body temperature observed in the natterjack toad reflect the attempt to maintain an optimal state of hidratation

Els ambients al CEIP Son Basca

L’article exposa l’experiència viscuda per l’equip d’educació infantil del CEIP Son Basca, de Sa Pobla, amb la implementació del treball per ambients. El projecte, iniciat al curs 2008-2009, arran de la participació de les autores a les VI Jornades Pedagògiques (Barcelona), inclou tots els membres de la comunitat educativa. Aquesta experiència de treball per ambients ha suposat l’establiment de set espais en els què els infants de tres a cinc anys poden experimentar, setmanalment, diferents situacions d’aprenentatge lúdic i actiu i expressar-se amb diferents llenguatges. Les propostes ludicodidàctiques són: experimentació, artística, mediateca, jugam a ser, berenar, música i hort. Els infants, sense segregació en funció de l’edat, treballen des d’hàbits fins a continguts curriculars de música, passant pel joc simbòlic o l’expressió oral i escrit

Glyceraldehyde-3-phosphate dehydrogenase is overexpressed in colorectal cancer onset

Background Glyceraldehyde-3-phosphate dehydrogenase (GAPDH) is an essential regulator of glycolysis used as a housekeeping marker for gene/protein normalisation. Given the pivotal role of GAPDH in tumour metabolism, our aim was to correlate its protein expression with tumour staging and prognosis of colorectal cancer. Methods GAPDH expression was immunohistochemically analysed in tumour tissues from 62 colorectal cancer (CRC) patients, and validated at mRNA level in an independent dataset comprising 98 paired stage II CRC and normal samples. Staining quantification was performed by computational image analysis, and correlations between GAPDH expression and tumour progression stage were assessed. Gene expression profiling was performed using Affymetrix microarrays. Probability of patient survival and disease-free survival were analysed by the univariate product-limit method of Kaplan-Meier. Groups were compared using Kruskal-Wallis tests. Results Overexpression of GAPDH is positively associated with early stage tumours without regional lymph node and distant metastases involved. These results were reinforced by those obtained at mRNA level. Conclusion Studying the role of GAPDH in malignant transformation can shed new light on the understanding of tumour onset and lead to the design of more efficient personalised therapies

Environments at the Primary School CEIP Son Basca

L’article exposa l’experiència viscuda per l’equip d’educació infantil del CEIP Son Basca, de Sa Pobla, amb la implementació del treball per ambients. El projecte, iniciat al curs 2008-2009, arran de la participació de les autores a les VI Jornades Pedagògiques (Barcelona), inclou tots els membres de la comunitat educativa. Aquesta experiència de treball per ambients ha suposat l’establiment de set espais en els què els infants de tres a cinc anys poden experimentar, setmanalment, diferents situacions d’aprenentatge lúdic i actiu i expressar-se amb diferents llenguatges. Les propostes ludicodidàctiques són: experimentació, artística, mediateca, jugam a ser, berenar, música i hort. Els infants, sense segregació en funció de l’edat, treballen des d’hàbits fins a continguts curriculars de música, passant pel joc simbòlic o l’expressió oral i escrita.El artículo expone la experiencia vivida por el equipo de educación infantil del CEIP Son Basca, de Sa Pobla, con la implementación de actividades de trabajo por ambientes. El proyecto, iniciado en el curso 2008-2009, a raíz de la participación de las autoras en las VI Jornadas Pedagógicas (Barcelona), implica a todos los miembros de la comunidad educativa. Esta experiencia de trabajo por ambientes ha supuesto el establecimiento de siete espacios en los que los niños de tres a cinco años pueden experimentar, semanalmente, diferentes situaciones de aprendizaje lúdico y activo y expresarse con diferentes lenguajes. Las propuestas ludicodidácticas son: experimentación, artística, mediateca, jugamos a ser, merienda, música y huerto. Los niños, sin segregación en función de la edad, trabajan desde hábitos hasta contenidos curriculares de música, pasando por el juego simbólico o la expresión oral y escrita.This article presents the experience of the preschool education team at the primary school CEIP Son Basca, in Sa Pobla, with the implementation of environment-based work. The project began in the 2008-2009 academic year following the authors’ participation in the Sixth Pedagogy Conference (Barcelona) and has involved the participation of every member of the educational community. This environment-based work experience entails the establishment of seven different spaces. Each week, children between ages three and five are given the opportunity to experiment with different entertaining and active learning situations and express themselves using different languages. These amusing and educational activities include artistic and media experimentation, “let’s pretend we’re”, the morning snack, music and gardening. Without being separated by age, the children work on everything from habits to curricular music content, as well as symbolic games and oral and written expression

Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature

DNA methylation; Episignature; Intellectual disabilityMetilació de l'ADN; Episignatura; Discapacitat intel·lectualMetilación del ADN; Epifirma; Discapacidad intelectualJARID2 (Jumonji, AT-rich interactive domain 2) haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome. It is characterized by intellectual disability, developmental delay, autistic features, behavior abnormalities, cognitive impairment, hypotonia, and dysmorphic features. JARID2 acts as a transcriptional repressor protein that is involved in the regulation of histone methyltransferase complexes. JARID2 plays a role in the epigenetic machinery, and the associated syndrome has an identified DNA methylation episignature derived from sequence variants and intragenic deletions involving JARID2. For this study, our aim was to determine whether patients with larger deletions spanning beyond JARID2 present a similar DNA methylation episignature and to define the critical region involved in aberrant DNA methylation in 6p22–p24 microdeletions. We examined the DNA methylation profiles of peripheral blood from 56 control subjects, 13 patients with (likely) pathogenic JARID2 variants or patients carrying copy number variants, and three patients with JARID2 VUS variants. The analysis showed a distinct and strong differentiation between patients with (likely) pathogenic variants, both sequence and copy number, and controls. Using the identified episignature, we developed a binary model to classify patients with the JARID2-neurodevelopmental syndrome. DNA methylation analysis indicated that JARID2 is the driver gene for aberrant DNA methylation observed in 6p22–p24 microdeletions. In addition, we performed analysis of functional correlation of the JARID2 genome-wide methylation profile with the DNA methylation profiles of 56 additional neurodevelopmental disorders. To conclude, we refined the critical region for the presence of the JARID2 episignature in 6p22–p24 microdeletions and provide insight into the functional changes in the epigenome observed when regulation by JARID2 is lost.Funding for this study is provided in part by the Government of Canada through Genome Canada and the Ontario Genomics Institute (OGI-188)

Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report

Chromosomal rearrangements; Primary immunodeficiencies; Syndromic immunodeficienciesReordenacions cromosòmiques; Immunodeficiències primàries; Immunodeficiències sindròmiquesReordenamientos cromosómicos; Inmunodeficiencias primarias; Inmunodeficiencias sindrómicasSyndromic immunodeficiencies are a heterogeneous group of inborn errors of immunity that can affect the development of non-immune organs and systems. The genetic basis of these immunodeficiencies is highly diverse, ranging from monogenic defects to large chromosomal aberrations. Antibody deficiency is the most prevalent immunological abnormality in patients with syndromic immunodeficiencies caused by chromosomal rearrangements, and usually manifests as a common variable immunodeficiency (CVID)-like phenotype. Here we describe a patient with a complex phenotype, including neurodevelopmental delay, dysmorphic features, malformations, and CVID (hypogammaglobulinemia, reduced pre-switch and switch memory B cells, and impaired vaccine response). Microarray-based comparative genomic hybridization (aCGH) revealed a 13-Mb deletion on chromosome 4q22.2-q24 involving 53 genes, some of which were related to the developmental manifestations in our patient. Although initially none of the affected genes could be linked to his CVID phenotype, subsequent reanalysis identified NFKB1 haploinsufficiency as the cause. This study underscores the value of periodic reanalysis of unsolved genetic studies performed with high-throughput technologies (eg, next-generation sequencing and aCGH). This is important because of the ongoing incorporation of new data establishing the relationship between genes and diseases. In the present case, NFKB1 had not been associated with human disease at the time aCGH was performed. Eight years later, reanalysis of the genes included in the chromosome 4 deletion enabled us to identify NFKB1 haploinsufficiency as the genetic cause of our patient’s CVID. In the future, other genes included in the deletion may be linked to human disease, allowing us to better define the molecular basis of our patient’s complex clinical phenotype.This study was funded by Instituto de Salud Carlos III, grants PI17/00660 and PI20/00761, cofinanced by the European Regional Development Fund (ERDF). This study was also funded by the Jeffrey Modell Foundation. This work is supported by the European Reference Network for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases Network (ERN-RITA)

Differential metabolic profiles associated to movement behaviour of stream-resident brown trout (Salmo trutta)

The mechanisms that can contribute in the fish movement strategies and the associated behaviour can be complex and related to the physiology, genetic and ecology of each species. In the case of the brown trout (Salmo trutta), in recent research works, individual differences in mobility have been observed in a population living in a high mountain river reach (Pyrenees, NE Spain). The population is mostly sedentary but a small percentage of individuals exhibit a mobile behavior, mainly upstream movements. Metabolomics can reflect changes in the physiological process and can determine different profiles depending on behaviour. Here, a non-targeted metabolomics approach was used to find possible changes in the blood metabolomic profile of S. trutta related to its movement behaviour, using a minimally invasive sampling. Results showed a differentiation in the metabolomic profiles of the trouts and different level concentrations of some metabolites (e.g. cortisol) according to the home range classification (pattern of movements: sedentary or mobile). The change in metabolomic profiles can generally occur during the upstream movement and probably reflects the changes in metabolite profile from the non-mobile season to mobile season. This study reveals the contribution of the metabolomic analyses to better understand the behaviour of organisms.This study has been supported and financed by the Biodiversity Conservation Plan of ENDESA, S.A. (ENEL Group)