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This article analyses the use of sculptural cast from different perspectives that allow us to contextualise it as a relevant resource in contemporary art practices. The first part of the text proposes a theoretical framework in which some aesthetic approaches to the cast are articulated. From a largely phenomenological approach, the negative dimension of space is addressed in order to signify a presence emerging from contact with the embodied. In the second part, these possibilities are explored through a selection of artistic practices from the last decades of the twentieth century to the first decades of the twenty-first. The cases studied address various themes, among which the relationship between the human body and other corporealities and spaces, as well as the interest in their materiality and the sculptural medium, stand out.

Physiologic aging leads to attrition of telomeres and replicative senescence. An acceleration of this process has been hypothesized in the progression of chronic liver disease. We sought to examine the association of telomere length (TL) with liver disease and its impact on mortality risk. A cohort of 7,072 adults with leukocyte TL measurements from the National Health and Nutrition Examination Survey 1999‐2002 with mortality follow‐up through 2015 was analyzed. Liver disease was defined by aminotransferase levels and classified into etiology‐based and advanced fibrosis categories. Multivariable‐adjusted linear regression models estimated effect sizes, with 95% confidence intervals (CIs), of the presence of liver disease on TL. Cox regression models evaluated associations between TL and all‐cause mortality risk using adjusted hazard ratios (HRs). The cohort was representative of the US population with mean age 46.1 years and mean TL 5.79 kilobase pairs. No overall association between TL and liver disease was found; however, there was a significant negative association of TL and advanced liver fibrosis in individuals aged 65 and above. The liver disease cohort (HR 1.22, 95% CI 0.99‐1.51) and those with metabolic syndrome (HR 1.26, 95% CI 0.96‐1.67) had increased mortality risk with shorter TL. The relationship between TL and all‐cause mortality was stronger in women (HR 1.51, 95% CI 1.02‐2.23) and in non‐Hispanic Whites (HR 1.37, 95% CI 1.02‐1.84). Conclusion: Shortened leukocyte TL is independently associated with advanced liver disease at older ages, and with a higher risk of all‐cause mortality in those with liver disease. These associations reaffirm the need to better understand the role of telomeres in the progression of liver disease. We examined the association of peripheral telomere length with liver disease and assessed its impact on mortality using data from the National Health and Nutrition Examination Survey (NHANES). We discovered that shortened leukocyte telomere length is independently associated with advanced liver disease at older ages, and also with a higher risk of all‐cause mortality in those with liver disease.

Organic farming promotes diversification strategies to enhance ecological functions. However, early field studies suggested that not all cereal polycultures confer benefits in terms of pest control. Our research involved a trait-based field study to evaluate the advantages of different wheat polycultures on aphid control and yield. We also explored the bottom-up and top-down effects underlying aphid control. We established 10 treatments replicated in five organic fields: three wheat monocultures (Florence-Aurora [FA], Montcada [MO], and Forment [FO]), a mixture with similar-traits cultivars (FAMO), and a mixture with different-traits cultivars (FAFO), each duplicated with and without a burclover undersowing. We analyzed aphid abundance, number of aphids per tiller, parasitism rate, predatory arthropods' abundance, and crop yield. FAFO and burclover undersowing significantly lowered aphid abundance and the number of aphids per tiller on FA. However, the treatments did not affect the abundance of predators or parasitism rates. Finally, wheat yield was similar across treatments, except in 2021 season when FA yielded significantly less. Our findings suggest that polycultures' benefits on aphid control are cultivar specific. Mixing wheat cultivars with complementary functional traits (height and odor profile) and the association of wheat monoculture with a burclover undersowing enhances aphid control by bottom-up effects without compromising crop yield. Nevertheless, stacking the cultivar mixtures with burclover undersowing did not outperform the results of a single diversity practices, probably because of functional redundancy of resistant cultivars and burclover cover.

PISA, which was launched by OECD, is one of the most significant and successful initiatives on which education systems have recently collectively embarked. However, although it is a well-coordinated international programme, its reception differs according to country. There is therefore a need to analyse specific national circumstances in order to gain a deeper understanding of the undertaking as a whole. This article specifically considers Spain’s participation in PISA and focuses on a number of aspects: a) the expectations created when it joined the programme, in parallel to the implementation of its own national education evaluation system; b) the impact PISA has had, both in the media and in political and discursive spheres; and c) the technical and scientific debates generated in Spanish academic media. Finally, it is argued that, in the last few years, PISA has met with a certain disenchantment among specialists and the public opinion because of its limitations as a ranking tool, the difficulty in explaining its findings, and its inability to prescribe education policies that are suitable for very different contexts.

Background X-chromosome inactivation (XCI) is an epigenetic process that occurs during early development in mammalian females by randomly silencing one of two copies of the X chromosome in each cell. The preferential inactivation of either the maternal or paternal copy of the X chromosome in a majority of cells results in a skewed or non-random pattern of X inactivation and is observed in over 25% of adult females. Identifying skewed X inactivation is of clinical significance in patients with suspected rare genetic diseases due to the possibility of biased expression of disease-causing genes present on the active X chromosome. The current clinical test for the detection of skewed XCI relies on the methylation status of the methylation-sensitive restriction enzyme (Hpall) binding site present in proximity of short tandem polymorphic repeats on the androgen receptor (AR) gene. This approach using one locus results in uninformative or inconclusive data for 10–20% of tests. Further, recent studies have shown inconsistency between methylation of the AR locus and the state of inactivation of the X chromosome. Herein, we develop a method for estimating X inactivation status, using exome and transcriptome sequencing data derived from blood in 227 female samples. We built a reference model for evaluation of XCI in 135 females from the GTEx consortium. We tested and validated the model on 11 female individuals with different types of undiagnosed rare genetic disorders who were clinically tested for X-skew using the AR gene assay and compared results to our outlier-based analysis technique. Results In comparison to the AR clinical test for identification of X inactivation, our method was concordant with the AR method in 9 samples, discordant in 1, and provided a measure of X inactivation in 1 sample with uninformative clinical results. We applied this method on an additional 81 females presenting to the clinic with phenotypes consistent with different hereditary disorders without a known genetic diagnosis. Conclusions This study presents the use of transcriptome and exome sequencing data to provide an accurate and complete estimation of X-inactivation and skew status in a cohort of female patients with different types of suspected rare genetic disease.

Memories of the General Education Act of 1970

The DOCK3 gene encodes the Dedicator of cytokinesis 3 (DOCK3) protein, which belongs to the family of guanine nucleotide exchange factors and is expressed almost exclusively in the brain and spinal cord. We used whole exome sequencing (WES) to investigate the molecular cause of developmental delay and hypotonia in three unrelated probands. WES identified truncating and splice site variants in Patient 1 and compound heterozygous and homozygous missense variants in Patients 2 and 3, respectively. We studied the effect of the three missense variants in vitro by using site-directed mutagenesis and pull-down assay and show that the induction of Rac1 activation was significantly lower in DOCK3 mutant cells compared with wild type human DOCK3 (P < 0.05). We generated a protein model to further examine the effect of the two missense variants within or adjacent to the DHR-2 domain in DOCK3 and this model supports pathogenicity. Our results support a loss of function mechanism but the data on the patients with missense variants should be cautiously interpreted because of the variability of the phenotypes and limited number of cases. Prior studies have described DOCK3 bi-allelic loss of function variants in two families with ataxia, hypotonia, and developmental delay. Here, we report on three patients with DOCK3-related developmental delay, wide-based or uncoordinated gait, and hypotonia, further supporting DOCK3’s role in a neurodevelopmental syndrome and expanding the spectrum of phenotypic and genotypic variability.

Background Biallelic pathogenic variants in HTRA1 cause CARASIL. More recently, monoallelic variants have been associated with the autosomal dominant disorder CADASIL2 but not all carriers develop disease manifestations. We describe the clinicoradiologic and mutation spectrum of four new CADASIL2 individuals. Methods Medical records at Mayo Clinic between 2013 and 2020 were retrospectively reviewed to identify patients with cerebral small vessel disease related to monoallelic HTRA1 variants. Results Four patients met the study inclusion criteria for cerebral small vessel disease related to HTRA1 monoallelic variants. The mean age at onset of first clinical stroke was 51.25 years (range 41–64 years). The mean disease duration was 6.5 years (range 4–12). All individuals had recurrent strokes within the duration of follow‐up with a mean number of strokes per patient being 5.5 (range 2–12). Three individuals had leukoencephalopathy with brain stem involvement. Microhemorrhages were seen on brain MRI in three patients. HTRA1 monoallelic variants identified in our cohort were missense variants in three patients and a novel frameshift variation in one patient. Interestingly, two of these missense variants were previously reported in an autosomal recessive pattern of inheritance and here are associated with a dominant effect. Conclusions Clinicoradiologic characteristics of heterozygous HTRA1‐related CSVD may overlap with sporadic CSVD. Heterozygous HTRA1 variants can contribute to dominant or recessive disease mechanisms. Clinicoradiologic features of heterozygous HTRA1‐related CSVD may overlap with sporadic CVSD. The presence of vascular risk factors and a noncontributory family history should not exclude late‐onset CSVD of inherited etiology. HTRA1 variants can be disease‐causing in both heterozygous and biallelic states, but so far, there are no defining variant characteristics to determine the pattern of inheritance.

por la calidad de la educación, que renovó el discurso pedagógico y llevó aparejado un refuerzo de las actividades de evaluación, al ser esta entendida como un instrumento clave para producir la anhelada mejora. Fue en ese contexto en el que comenzó a construirse en España una política común de evaluación de los centros educativos, considerados el lugar donde se encarna la tarea educativa y se debe producir la mejora. Dicha política fue cambiando a lo largo del tiempo, en función de los cambios registrados en la orientación política general, el reparto de competencias en materia de educación y las iniciativas concretas de los diversos agentes y administraciones. En este artículo se analizan las características de las políticas desarrolladas en los últimos treinta años para evaluar los centros docentes, así como de las prácticas en que se han traducido. El enfoque adoptado se inscribe en la política de la educación, centrándose en los planteamientos adoptados y las prácticas desarrolladas por las diversas administraciones. Para ello se ha recurrido a la identificación y consulta de obras académicas y de investigación, informes oficiales, normas legales y «literatura gris». Tras llevar a cabo dicho análisis, el trabajo concluye que la política adoptada a lo largo de estos treinta años se ha caracterizado por los avances y retrocesos, los cambios de orientación, la falta de coherencia entre las intenciones y la práctica y la insuficiencia de las acciones desarrolladas.