62 research outputs found

    Effect of exercise on bone health in children and adolescents with cancer during and after oncological treatment: A systematic review and meta-analysis

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    Background: Although regular physical activity and exercise programs might improve bone health caused by oncological treatment and the disease itself, it remains unknown the pooled effect of exercise interventions following frequency, intensity, time and type prescriptions. Objective: This systematic review and meta-analysis aimed to synthesise evidence regarding the effectiveness of exercise interventions on bone health in children and adolescents with cancer during and after oncological treatment. Methods: A systematic search was conducted in the MEDLINE (via PubMed), Web of Science and Scopus databases from November 2021 to January 2022. Randomised controlled trials (RCTs) and non-RCTs reporting pre-post changes of the effectiveness of exercise interventions on DXA-measured bone parameters in young population (1–19 years) during or after oncological treatment were included. Pooled (ESs) and 95% confidence intervals (95%CIs) were calculated. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines were followed. Results: A total of eight trials with 341 participants were included. The metaanalyses did not reveal a statistically significant increase in whole body areal bone mineral density (ES = 0.10; 95%CI: −0.14, 0.34), lumbar spine (ES = 0.03; 95%CI: −0.21, 0.26) or femoral neck (ES = 0.10; 95%CI: −0.37, 0.56). Similarly, during the oncological treatment phase the ES was 0.04 (95%CI: −0.17, 0.25) and after the ES was 0.07 (95%CI: −0.20, 0.33). Conclusion: To date, exercise interventions have been inappropriate and therefore, ineffective to illustrate any beneficial effect on bone health in children and adolescents with cancer during and after oncological treatment.Spanish Ministry of Science and Innovation (ref: PID2020-117302RA-I00La Caixa Foundation (ref: LCF/BQ/PR19/11700007)the University of Granada Plan Propio de Investigación 2021-Excellence actions: Unit of Excellence on Exercise, Nutrition and Health (UCEENS)CIBEROBN, Centro de Investigación Biomédica en Red (CB22/03/ 00058Instituto de Salud Carlos III, Ministerio de Ciencia e Innovación and Unión Europea – European Regional Development Fund. AM-P is recipient of a predoctoral fellowship (FPU20/05530) by the Spanish Ministry of Education, Culture and Sport. EU-G is supported by the Maria Zambrano fellowship by the Ministerio de Universidades y la Unión Europea—NextGenerationEU

    2D-Tasks for Cognitive Rehabilitation

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    Neuropsychological Rehabilitation is a complex clinic process which tries to restore or compensate cognitive and behavioral disorders in people suffering from a central nervous system injury. Information and Communication Technologies (ICTs) in Biomedical Engineering play an essential role in this field, allowing improvement and expansion of present rehabilitation programs. This paper presents a set of cognitive rehabilitation 2D-Tasks for patients with Acquired Brain Injury (ABI). These tasks allow a high degree of personalization and individualization in therapies, based on the opportunities offered by new technologies

    Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients

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    In order to characterize the genetic architecture of epilepsy in a pediatric population from the Iberian Peninsula (including the Canary Islands), we conducted targeted exome sequencing of 246 patients with infantile-onset seizures with or without neurodevelopmental delay. We detected 107 variants in 48 different genes, which were implicated in neuronal excitability, neurodevelopment, synaptic transmission, and metabolic pathways. In 104 cases (42%) we detected variant(s) that we classified as pathogenic or likely pathogenic. Of the 48 mutated genes, 32 were dominant, 8 recessive and 8 X-linked. Of the patients for whom family studies could be performed and in whom pathogenic variants were identified in dominant or X-linked genes, 82% carried de novo mutations. The involvement of small copy number variations (CNVs) is 9%. The use of progressively updated custom panels with high mean vertical coverage enabled establishment of a definitive diagnosis in a large proportion of cases (42%) and detection of CNVs (even duplications) with high fidelity. In 10.5% of patients we detected associations that are pending confirmation via functional and/or familial studies. Our findings had important consequences for the clinical management of the probands, since a large proportion of the cohort had been clinically misdiagnosed, and their families were subsequently able to avail of genetic counseling. In some cases, a more appropriate treatment was selected for the patient in question, or an inappropriate treatment discontinued. Our findings suggest the existence of modifier genes that may explain the incomplete penetrance of some epilepsy-related genes. We discuss possible reasons for non-diagnosis and future research directions. Further studies will be required to uncover the roles of structural variants, epimutations, and oligogenic inheritance in epilepsy, thereby providing a more complete molecular picture of this disease. In summary, given the broad phenotypic spectrum of most epilepsy-related genes, efficient genomic tools like the targeted exome sequencing panel described here are essential for early diagnosis and treatment, and should be implemented as first-tier diagnostic tools for children with epilepsy without a clear etiologic basis

    The energy of waves in the photosphere and lower chromosphere: III. Inversion setup for Ca II H spectra in local thermal equilibrium

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    The Ca II H line is one of the strongest lines in the solar spectrum and provides continuous information on the solar atmosphere from the photosphere to the lower chromosphere. We describe an inversion approach that reproduces observed Ca II H spectra assuming LTE. We developed an inversion strategy based on the SIR code. The approach uses a two-step procedure with an archive of pre-calculated spectra to fit the line core and a subsequent iterative modification to improve the fit in the line wing. Simultaneous spectra in the 630nm range can optionally be used to fix the continuum temperature. The method retrieves 1D temperature stratifications neglecting lateral radiative transport. LOS velocities are included by an empirical approach. An archive of about 300.000 pre-calculated spectra is more than sufficient to reproduce the line core of observed Ca II H spectra both in quiet Sun and in active regions. The final thermodynamical stratifications match observed and best-fit spectra to a level of about 0.5 (1) % of Ic in the line wing (core). Inversion schemes based on pre-calculated spectra allow one a reliable and relatively fast retrieval of solar properties from observed chromospheric spectra. The approach can be easily extended to an 1D NLTE case by a simple exchange of the pre-calculated archive spectra.Comment: 15 pages, 15 figures, accepted for publication in A&A. The animation will only be provided in the A&A online sectio

    The energy of waves in the photosphere and lower chromosphere: IV. Inversion results of Ca II H spectra

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    Most static 1D atmosphere models in the quiet Sun predict a rise of the gas temperature at chromospheric layers, but numerical simulations only yield an increase in the brightness temperature. We investigate the thermal structure in the solar chromosphere as derived from an LTE inversion of Ca II H spectra in QS and active regions. We investigate the temperature stratifications on differences between magnetic and field-free regions in the QS, and between QS and ARs. We determine the energy content of individual calcium bright grains (BGs). The rms temperature fluctuations are below 100 K in the photosphere and 200-300 K in the chromosphere. The average temperature stratification in the QS does not exhibit a clear chromospheric temperature rise, opposite to the AR case. We find an energy content of about 7*10E18 J for BGs that repeat with a cadence of about 160 secs. The precursors of BGs have a vertical extent of about 200 km and a horizontal extent of about 1 Mm. The comparison of observed with synthetic NLTE profiles confirms that the solar chromosphere in the QS oscillates between an atmosphere in radiative equilibrium and one with a moderate chromospheric temperature rise. Two-dimensional x-z temperature maps exhibit nearly horizontal canopy-like structures with a few Mm extent around photospheric magnetic field concentrations at a height of about 600 km. The large difference between QS regions and ARs, and the better match of AR and non-LTE reference spectra suggest that magnetic heating processes are more important than commonly assumed. The temperature fluctuations in QS derived by the LTE inversion do not suffice on average to maintain a stationary chromospheric temperature rise. The spatially and vertically resolved information on the temperature structure allows one to investigate in detail the topology and evolution of the thermal structure in the lower solar atmosphere.Comment: 16 pages, 16 figures + 1 page Appendix, accepted by A&

    Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

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    Phosphoinositides are lipids that play a critical role in processes such as cellular signalling, ion channel activity and membrane trafficking. When mutated, several genes that encode proteins that participate in the metabolism of these lipids give rise to neurological or developmental phenotypes. PI4KA is a phosphoinositide kinase that is highly expressed in the brain and is essential for life. Here we used whole exome or genome sequencing to identify 10 unrelated patients harbouring biallelic variants in PI4KA that caused a spectrum of conditions ranging from severe global neurodevelopmental delay with hypomyelination and developmental brain abnormalities to pure spastic paraplegia. Some patients presented immunological deficits or genito-urinary abnormalities. Functional analyses by western blotting and immunofluorescence showed decreased PI4KA levels in the patients' fibroblasts. Immunofluorescence and targeted lipidomics indicated that PI4KA activity was diminished in fibroblasts and peripheral blood mononuclear cells. In conclusion, we report a novel severe metabolic disorder caused by PI4KA malfunction, highlighting the importance of phosphoinositide signalling in human brain development and the myelin sheath

    Land conflict in peri-urban areas: Exploring the effects of land reform on informal settlement in Mexico

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    Peri-urban areas are often subject to intensive construction, through both formal and informal processes. As land transitions from rural to urban status, different land tenure and administration systems may come into conflict, leading to disputes, contestation and, in some cases, violence. However, little is known about the precise causes of peri-urban land conflict. In Mexico, peri-urban growth has historically proceeded peacefully, owing to the control exerted by a corporatist system of government, and the political use of land tenure regularisation. However, the effects of land reforms on transactions at the peri-urban fringe, in the context of wider processes of liberalisation, may be increasing vulnerability to conflict over land. This paper explores these issues through a case study of an irregular settlement on the peri-urban fringe of the provincial Mexican city of Xalapa, where contestations over informally developed land have escalated into violent encounters between groups of settlers and the state. The findings show that vulnerability to conflict in peri-urban areas can be attributed to the interaction of macro-level processes with local-level factors, including diverse claims, overlapping legal and governance frameworks and, critically, local power relations

    Shells and humans: molluscs and other coastal resources from the earliest human occupations at the Mesolithic shell midden of El Mazo (Asturias, Northern Spain)

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    Human populations exploited coastal areas with intensity during the Mesolithic in Atlantic Europe, resulting in the accumulation of large shell middens. Northern Spain is one of the most prolific regions, and especially the so-called Asturian area. Large accumulations of shellfish led some scholars to propose the existence of intensification in the exploitation of coastal resources in the region during the Mesolithic. In this paper, shell remains (molluscs, crustaceans and echinoderms) from stratigraphic units 114 and 115 (dated to the early Mesolithic c. 9 kys cal BP) at El Mazo cave (Asturias, northern Spain) were studied in order to establish resource exploitation patterns and environmental conditions. Species representation showed that limpets, top shells and sea urchins were preferentially exploited. One-millimetre mesh screens were crucial in establishing an accurate minimum number of individuals for sea urchins and to determine their importance in exploitation patterns. Environmental conditions deduced from shell assemblages indicated that temperate conditions prevailed at the time of the occupation and the morphology of the coastline was similar to today (rocky exposed shores). Information recovered relating to species representation, collection areas and shell biometry reflected some evidence of intensification (reduced shell size, collection in lower areas of exposed shores, no size selection in some units and species) in the exploitation of coastal resources through time. However, the results suggested the existence of changes in collection strategies and resource management, and periods of intense shell collection may have alternated with times of shell stock recovery throughout the Mesolithic.This research was performed as part of the project “The human response to the global climatic change in a littoral zone: the case of the transition to the Holocene in the Cantabrian coast (10,000–5000 cal BC) (HAR2010-22115-C02-01)” funded by the Spanish Ministry of Economy and Competitiveness. AGE was funded by the University of Cantabria through a predoctoral grant and IGZ was funded by the Spanish Ministry of Economy and Competitiveness through a Juan de la Cierva grant. We also would like to thank the University of Cantabria and the IIIPC for providing support, David Cuenca-Solana, Alejandro García Moreno and Lucia Agudo Pérez for their help. We also thank Jennifer Jones for correcting the English. Comments from two anonymous reviewers helped to improve the paper

    Reproductive biology of the pampas deer (Ozotoceros bezoarticus): a review

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    The pampas deer (Ozotoceros bezoarticus) is a South American grazing deer which is in extreme danger of extinction. Very little is known about the biology of the pampas deer. Moreover, most information has not been published in peer-reviewed scientific journals, and is only available in local publications, theses, etc. Therefore, our aim was to update and summarize the available information regarding the reproductive biology of the pampas deer. Moreover, in most sections, we have also included new, unpublished information. Detailed descriptions are provided of the anatomy of both the female and the male reproductive tract, puberty onset, the oestrous cycle and gestational length. Birthing and the early postpartum period are described, as are maternal behaviour and early fawn development, seasonal distribution of births, seasonal changes in male reproduction and antler cycle, reproductive behaviour, semen collection, and cryopreservation. Finally, an overview is given and future directions of research are proposed
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