Search

Greater attention is needed towards creating more equitable performance environments through socially just approaches for athlete development, aligned with developing appropriate sport policies and competitive spaces. Therefore, this study aimed to assess the impact of changes to the competitive format on championship competitiveness and to critically reflect on the use of the men’s competitive models as the guiding factor for changes in women’s sports. Findings showed changes in competitive format were insufficient to increase league competitiveness. Indeed, competitiveness, and inherently, performance development require a more nuanced and ecological understanding of female athlete development. The fact that the highest goal difference per game was found in the season 2022/2023 supports this suggestion, implicating an in-depth analysis around political, social and cultural variables to foster gender equity and actual increases in league competitiveness. Moving forward, there may be the need to consider new possibilities for the competitive format for female futsal athletes and other changes within the sport system that can create a truly equitable environment. Sport policies and competitive spaces within high-performance contexts have a critical role to play in ensuring gender equity and cannot simply imitate male sport.

IntroductionThis study evaluates the effectiveness of the Project SCORE intervention in fostering Positive Youth Development (PYD) within competitive youth sport settings in Portugal. Project SCORE is an online PYD-focused tool developed to assist coaches in promoting the 4Cs—competence, confidence, connection, and character—within their coaching.MethodsThe research involved 13 coaches and 70 youth athletes from football and rowing teams. Methodologically, this study analyzed the pre- and post- Project SCORE intervention data, assessing the perceptions of coaches and athletes towards the development of the 4Cs.ResultsResults indicated significant improvements in athletes' perceptions of 4Cs post-intervention, and among coaches' perceptions, there was a significant improvement in the practice and transfer of life skills. Particularly, coaches showed enhanced abilities in fostering life skills and facilitating the transfer of these skills to competitive environments, although some dimensions like sport climate did not sustain positive changes.DiscussionThe findings highlight the benefits of customized PYD-based programs in competitive youth sports and suggest the need for further research to enhance their widespread and consistent implementation.

Reducing hot cracking is essential for ensuring seamless production of nickel superalloys, which are extensively used in welded structures for aircraft engines. The prevalence of hot cracking in precipitation-strengthened alloy 718 is primarily governed by two factors: firstly, the chemical composition and the coarse microstructure formed during solidification, and secondly, the activation of hot cracking mechanisms, which is particularly critical in mushroom-shaped welding morphologies. In this study, different nickel-based superalloys welded using laser beam welding (LBW), more specifically bead on plate welding (BoP), specimens are compared. The cracking susceptibility of both wrought and two investment casting 718 alloys with tailored chemical compositions is examined through the application of both continuous and pulsed LBW. Additionally, various pre-weld treatments, including with and without Pre-HIP (hot isostatic pressing), are analyzed. The influences of chemical composition, LBW parameters and pre- and post-welding treatments on both internal and external cracks determined by conventional and advanced non-destructive tests are studied. A clear reduction of hot cracking susceptibility and overall welding quality improvement was observed in a tailored 718 alloy with relatively high Ni (55.6% wt) and Co (1.11% wt) contents.

Identified as a potential reference pathogen by the WHO Guidelines for Drinking-Water Quality, Rotavirus (RV) is among the main enteric viruses that cause waterborne diseases. The aim of this study was to identify and correlate the presence of RV in collective and individual water sources of rural communities in the state of Goiás, within the seasons in which the collections were made (rainy and dry seasons). For this, 86 water samples in the dry period and 160 samples in the rainy period were collected. Concentration of water samples, extraction of viral genetic material and molecular tests were performed. When analyzing the presence of RV in the samples, taking into consideration the period studied, RV was found to be more prevalent in the dry season (54.7%) than in the rainy season (20%), showing a strong statistical association with the dry season (p-value < 0.001). The presence of pathogenic microorganisms in water is a public risk issue, enabling the emergence of outbreaks, endemics and epidemics. In the present research, there was an association between the presence of Rotavirus and the dry period of the year when compared to the rainy period.

Background/Objectives: Jump test assessment is commonly used for physical tests, with different type of devices used for its evaluation. The purpose of the present study was to examine the validity and reliability of a freely accessible mobile application (VertVision, version 2.0.5) for measuring jump performance. Methods: With that intent, thirty-eight college age recreationally active subjects underwent test assessment after a specific warm-up, performing countermovement jumps (CMJs) and squat jumps (SJs) on a contact platform while being recorded with a smartphone camera. Jump height was the criterion variable, with the same formula being used for both methods. Data analysis was performed by two experienced observers. Results: The results showed strong correlations with the contact platform (ICC > 0.9) for both jumps. Furthermore, between-observer reliability was also high (ICC > 0.9; CV ≤ 2.19), with lower values for smallest worthwhile change (≤0.23) and typical error of measurement (≤0.14). Estimation error varied when accounting for both observers, with the SJ accounting for bigger differences (4.1–6.03%), when compared to the CMJ (0.73–3.09%). Conclusions: The study suggests that VertVision is a suitable and handy method for evaluating jump performance. However, it presents a slight estimation error when compared to the contact platform.

Este artículo surge de la mesa redonda “A Decolonial-Postcolonial Approach: Digital Humanities Pedagogy in Modern Language” presentado en DH Unbound 2022. El trabajo aborda el caso de dos cursos de humanidades digitales ofrecidos en línea por causa de la pandemia para estudiantes en departamentos de humanidades en la Universidad de Kansas en el 2021 con el fin de explicar el diseño y las prácticas del programa de dos cursos cuyo contenido se enfoca en un entendimiento crítico e interseccional de las humanidades digitales y estudios hispánicos con una aproximación decolonial feminista. Los autores que tomaron los cursos como estudiantes en programa de estudios graduados incluyen en este artículo sus experiencias al aprender nuevas metodologías, destrezas digitales y crear una producción digital crítica a partir de culturas de habla hispana. Este trabajo contribuye a la conversación actual de nuevas pedagogías ya que cómo estudiantes subgraduados y graduados en departamentos de humanidades, en este caso específico de estudios en Lenguas Modernas. Existe el interés y la necesidad de amplificar los campos de estudio ofreciendo cursos y oportunidades que le permitan al estudiante explorar nuevas formas de investigación y pedagogía al incorporar conocimientos personales y temas sociopolíticos mediante una intersección con prácticas y herramientas digitales. This paper arises from the roundtable "A Decolonial-Postcolonial Approach: Digital Humanities Pedagogy in Modern Language" presented at DH Unbound 2022. The paper addresses the case of two digital humanities courses offered online because of the pandemic for students in Humanities departments at the University of Kansas in 2021 in order to explain the program design and practices of two courses whose content focuses on a critical and intersectional understanding of Digital Humanities and Hispanic studies with a feminist decolonial approach. The authors who took the courses as graduate students include in this article their experiences learning new methodologies, digital skills, and creating critical digital production from Spanish-speaking cultures. This work contributes to the current conversation of new pedagogies as undergraduate and graduate students in Humanities departments, in this specific case Modern Language Studies. There is an interest and need to amplify fields of study by offering courses and opportunities that allow students to explore new forms of inquiry and pedagogy by incorporating personal knowledge and sociopolitical issues through an intersection with digital practices and tools.

Abstract Microbial products are essential for developing various therapeutic agents, including antibiotics, anticancer drugs, vaccines, and therapeutic enzymes. Genetic engineering techniques, functional genomics, and synthetic biology unlock previously uncharacterized natural products. This review highlights major advances in microbial biotechnology, focusing on gene‐based technologies for medical applications.

This descriptive study aimed to investigate the current practices of Portuguese and Brazilian soccer coaches in the design and implementation of small-sided games (SSGs) in soccer. A total of 187 male coaches participated in the online survey, consisting of 82 Portuguese and 105 Brazilian individuals. These coaches held various positions within the technical staff, with 63 serving as head coaches, 38 as assistant coaches, 38 as physical trainers, and 48 in other roles related to the technical staff. Additionally, the participants represented both youth ( n = 102) and adult competitive levels ( n = 59), along with some who were not currently associated with a specific group. The survey consisted of 32 questions divided into three main sections: (i) the timing of SSG application, (ii) the methods used for applying SSGs, and (iii) the reasons for applying SSGs. The Chi-square test revealed a statistically significant association between nationality and the frequency of SSGs used in training sessions during the pre-season ( p = 0.039) and in-season ( p < 0.001). Moreover, significant association between nationality and the time allocated to employing SSGs for targeting aerobic training ( p < 0.001) was found. There was a significant association between nationality and the weekly frequency of SSGs use for targeting sprint training ( p = 0.019). The Chi-square test identified significant associations between nationality and the use of SSGs for targeting technical training ( p = 0.002), as well as for tactical training ( p = 0.002). In summary, this study underscores that SSGs are primarily employed to enhance aerobic fitness, change of direction, technical skills, and tactical behaviors. Coaches generally favor employing SSGs two to three times a week, with typical sessions lasting between 16 to 30 minutes. Notably, the major discrepancies between nationalities lie in the importance assigned to the use of SSGs. However, in practice, the formats and objectives for implementing SSGs remain relatively similar

Abstract Covering 35% of Europe’s land area, forest ecosystems play a crucial role in safeguarding biodiversity and mitigating climate change. Yet, forest degradation continues to undermine key ecosystem services that forests deliver to society. Here we provide a spatially explicit assessment of the condition of forest ecosystems in Europe following a United Nations global statistical standard on ecosystem accounting, adopted in March 2021. We measure forest condition on a scale from 0 to 1, where 0 represents a degraded ecosystem and 1 represents a reference condition based on primary or protected forests. We show that the condition across 44 forest types averaged 0.566 in 2000 and increased to 0.585 in 2018. Forest productivity and connectivity are comparable to levels observed in undisturbed or least disturbed forests. One third of the forest area was subject to declining condition, signalled by a reduction in soil organic carbon, tree cover density and species richness of threatened birds. Our findings suggest that forest ecosystems will need further restoration, improvements in management and an extended period of recovery to approach natural conditions.

ABSTRACTA genome scale metabolic model of the bacterium Paracoccus denitrificans has been constructed. The model containing 972 metabolic genes, 1,371 reactions, and 1,388 unique metabolites has been reconstructed. The model was used to carry out quantitative predictions of biomass yields on 10 different carbon sources under aerobic conditions. Yields on C1 compounds suggest that formate is oxidized by a formate dehydrogenase O, which uses ubiquinone as redox co-factor. The model also predicted the threshold methanol/mannitol uptake ratio, above which ribulose biphosphate carboxylase has to be expressed in order to optimize biomass yields. Biomass yields on acetate, formate, and succinate, when NO3− is used as electron acceptor, were also predicted correctly. The model reconstruction revealed the capability of P. denitrificans to grow on several non-conventional substrates such as adipic acid, 1,4-butanediol, 1,3-butanediol, and ethylene glycol. The capacity to grow on these substrates was tested experimentally, and the experimental biomass yields on these substrates were accurately predicted by the model.IMPORTANCEParacoccus denitrificans has been broadly used as a model denitrifying organism. It grows on a large portfolio of carbon sources, under aerobic and anoxic conditions. These characteristics, together with its amenability to genetic manipulations, make P. denitrificans a promising cell factory for industrial biotechnology. This paper presents and validates the first functional genome-scale metabolic model for P. denitrificans, which is a key tool to enable P. denitrificans as a platform for metabolic engineering and industrial biotechnology. Optimization of the biomass yield led to accurate predictions in a broad scope of substrates.

Based on the tenets of self-determination theory, the Sport Motivation Scale-II is an 18-item instrument that consists of six subscales. Despite the numerous studies that have been conducted using self-determination theory in organized youth sport contexts, measures available to assess self-determined forms of motivation across socio-cultural contexts are scarce. This is particularly important because there are socio-cultural contexts that have diverse reward systems, competitive structures, and convey different social norms, values, and cultural nuances. The existence of measures available to assess self-determined forms of motivation across socio-cultural contexts may enable the development of a robust knowledge base that informs research-to-practice partnerships and potential changes across a complex youth sport landscape. The present study aimed to validate the factor structure of the Sport Motivation Scale-II with a sample of 239 Portuguese adolescent athletes. The participants’ ages ranged between 12 and 17 years old ( M = 14.39; SD = 1.35). Confirmatory factor analysis was conducted to achieve the aim of this study. Findings showed that the six-factor model used by the authors presents a good adjustment concerning sports participants’ level of motivation toward sports practice. Moving forward, the Sport Motivation Scale-II may be used in future studies to help provide an understanding about athletes’ self-determination. Several practical and theoretical implications are provided.

Em Portugal, as organizações desportivas nacionais recebem financiamento do governo para atingir três objetivos principais: organizar competições; formação de agentes desportivos; e promover o desenvolvimento humano. Assim, o presente estudo teve como objetivo analisar as decisões estratégicas das organizações desportivas portuguesas na promoção do desenvolvimento humano. Foi realizada uma análise documental dos relatórios anuais e planos de atividades das organizações desportivas. Tal análise ajudou a entender como as políticas e o financiamento influenciam as práticas das organizações desportivas, especialmente no que diz respeito ao desporto de formação. Um total de 35 organizações desportivas nacionais que oferecem programas para jovens foram incluídas no presente estudo. Os resultados indicam que o desenvolvimento humano não parece estar no centro das prioridades das organizações desportivas nacionais. Poucas estratégias de gestão foram implementadas pelas organizações desportivas para visar, deliberadamente, o desenvolvimento humano. Futuramente, há a necessidade de conceber estratégias concretas para melhor situar o desenvolvimento psicossocial no contexto do desporto de formação em Portugal, considerando as necessidades de desenvolvimento da juventude no século XXI. Para ajudar as organizações desportivas a promover o desenvolvimento psicossocial, são fornecidas várias recomendações para os planos estratégicos, diretrizes para as partes interessadas no desporto e financiamento.

Abstract Background Achondroplasia, caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene, is the most common skeletal dysplasia. The Lifetime Impact of Achondroplasia Study in Europe (LIAISE; NCT03449368) aimed to quantify the burden of achondroplasia among individuals across a broad range of ages, including adults. Methods Demographic, clinical and healthcare resource use data were collected from medical records of achondroplasia patients enrolled in 13 sites across six European countries in this retrospective, observational study. Descriptive statistics or event rates per 100 person-years were calculated and compared across age groups as well as by history of limb lengthening. Patient-reported outcomes (quality of life [QoL], pain, functional independence, work productivity and activity impairments) were evaluated using questionnaires at the time of enrolment. An exploratory analysis investigated correlations between height (z-score or centimetres) and patient-reported outcomes. Results Overall, 186 study patients were included, with a mean age of 21.7 ± 17.3 years (range 5.0–84.4). At least one complication or surgery was reported for 94.6% and 72.0% of patients, respectively, at a rate of 66.6 and 21.5 events per 100 person-years. Diverse medical and surgical complications were reported for all ages in a bimodal distribution, occurring more frequently in the youngest and oldest age groups. A total of 40 patients had previously undergone limb lengthening (capped at 20% per the study protocol). The most frequent surgery types varied by age, in line with complication profiles. Healthcare resource use was high across all age groups, especially among the youngest and oldest individuals, and did not differ substantially according to history of limb lengthening. Compared to general population values, patients reported impaired QoL particularly for physical functioning domains. In addition, patients reported difficulty carrying out daily activities independently and pain starting in childhood. Patient height correlated with multiple patient-reported outcomes. Conclusions The findings of this study suggest that, across an individual’s lifetime, achondroplasia is associated with multisystem complications, reduced QoL and functionality, and increased pain. These results highlight the large amount of healthcare resources that individuals with achondroplasia require throughout their lifespans and provide novel insights into current achondroplasia management practices across Europe. Trial registration ClinicalTrials.gov, NCT03449368, Submitted 14 December 2017 – prospectively registered, https://clinicaltrials.gov/ct2/show/record/NCT03449368

Synthetic polymers, commonly known as plastics, are currently present in all aspects of our lives. Although they are useful, they present the problem of what to do with them after their lifespan. There are currently mechanical and chemical methods to treat plastics, but these are methods that, among other disadvantages, can be expensive in terms of energy or produce polluting gases. A more environmentally friendly alternative is recycling, although this practice is not widespread. Based on the practice of the so-called circular economy, many studies are focused on the biodegradation of these polymers by enzymes. Using enzymes is a harmless method that can also generate substances with high added value. Novel and enhanced plastic-degrading enzymes have been obtained by modifying the amino acid sequence of existing ones, especially on their active site, using a wide variety of genetic approaches. Currently, many studies focus on the common aim of achieving strains with greater hydrolytic activity toward a different range of plastic polymers. Although in most cases the depolymerization rate is improved, more research is required to develop effective biodegradation strategies for plastic recycling or upcycling. This review focuses on a compilation and discussion of the most important research outcomes carried out on microbial biotechnology to degrade and recycle plastics.

Autonomous driving navigation relies on diverse approaches, each with advantages and limitations depending on various factors. For HD maps, modular systems excel, while end-to-end methods dominate mapless scenarios. However, few leverage the strengths of both. This paper innovates by proposing a hybrid architecture that seamlessly integrates modular perception and control modules with data-driven path planning. This innovative design leverages the strengths of both approaches, enabling a clear understanding and debugging of individual components while simultaneously harnessing the learning power of end-to-end approaches. Our proposed architecture achieved first and second place in the 2023 CARLA Autonomous Driving Challenge’s SENSORS and MAP tracks, respectively. These results demonstrate the architecture’s effectiveness in both map-based and mapless navigation. We achieved a driving score of 41.56 and the highest route completion of 86.03 in the MAP track of the CARLA Challenge leaderboard 1, and driving scores of 35.36 and 1.23 in the CARLA Challenge SENSOR track with route completions of 85.01 and 9.55, for, respectively, leaderboard 1 and 2. The results of leaderboard 2 raised the hybrid architecture to the first position, winning the edition of the 2023 CARLA Autonomous Driving Competition.

A clinical and genetic study was conducted with pediatric patients and their relatives with optic atrophy 1 (OPA1) mutations to establish whether there is a genotype–phenotype correlation among the variants detected within and between families. Eleven children with a confirmed OPA1 mutation were identified during the study period. The main initial complaint was reduced visual acuity (VA), present in eight patients of the cohort. Eight of eleven patients had a positive family history of optic atrophy. The mean visual acuity at the start of the study was 0.40 and 0.44 LogMAR in the right and left eye, respectively. At the end of the study, the mean visual acuity was unchanged. Optical coherence tomography during the first visit showed a mean retinal nerve fiber layer thickness of 81.6 microns and 80.5 microns in the right and left eye, respectively; a mean ganglion cell layer of 52.5 and 52.4 microns, respectively, and a mean central macular thickness of 229.5 and 233.5 microns, respectively. The most common visual field defect was a centrocecal scotoma, and nine out of eleven patients showed bilateral temporal disc pallor at baseline. Sequencing of OPA1 showed seven different mutations in the eleven patients, one of which, NM_130837.3: c.1406_1407del (p.Thr469LysfsTer16), has not been previously reported. Early diagnosis of dominant optic atrophy is crucial, both for avoiding unnecessary consultations and/or treatments and for appropriate genetic counseling.

A pandemia causada pelo vírus SARS-CoV-2 impactou de diversas formas a população mundial, sendo importante conhecer a ação da doença em seus diferentes contextos. Este trabalho objetivou analisar os fatores associados a pior prognóstico da doença em Francisco Beltrão, Paraná. Realizou-se um estudo do tipo caso-controle com pacientes acometidos pela COVID-19 no município entre março de 2020 e novembro de 2021. Dentre os resultados, verificou-se que a presença de um maior número de comorbidades favorece o óbito como desfecho, havendo 3,981 (IC95%: 2,312 – 6,853) mais chances de um indivíduo ir a óbito. Notou-se que os pacientes que tiveram o pior desfecho possuíam uma média de IMC mais elevada (31,86). Os pacientes com histórico de tabagismo apresentaram 1,787 (IC95%: 1,068 – 2,990) mais chances de ir a óbito. Em suma, em Francisco Beltrão, a presença de comorbidades, obesidade e histórico de tabagismo foram fatores de pior prognostico.

ABSTRACT The phylum Gemmatimonadota comprises mainly uncultured microorganisms that inhabit different environments such as soils, freshwater lakes, marine sediments, sponges, or corals. Based on 16S rRNA gene studies, the group PAUC43f is one of the most frequently retrieved Gemmatimonadota in marine samples. However, its physiology and ecological roles are completely unknown since, to date, not a single PAUC43f isolate or metagenome-assembled genome (MAG) has been characterized. Here, we carried out a broad study of the distribution, abundance, ecotaxonomy, and metabolism of PAUC43f, for which we propose the name of Palauibacterales. This group was detected in 4,965 16S rRNA gene amplicon datasets, mainly from marine sediments, sponges, corals, soils, and lakes, reaching up to 34.3% relative abundance, which highlights its cosmopolitan character, mainly salt-related. The potential metabolic capabilities inferred from 52 Palauibacterales MAGs recovered from marine sediments, sponges, and saline soils suggested a facultative aerobic and chemoorganotrophic metabolism, although some members may also oxidize hydrogen. Some Palauibacterales species might also play an environmental role as N2O consumers as well as suppliers of serine and thiamine. When compared to the rest of the Gemmatimonadota phylum, the biosynthesis of thiamine was one of the key features of the Palauibacterales. Finally, we show that polysaccharide utilization loci (PUL) are widely distributed within the Gemmatimonadota so that they are not restricted to Bacteroidetes, as previously thought. Our results expand the knowledge about this cryptic phylum and provide new insights into the ecological roles of the Gemmatimonadota in the environment. IMPORTANCE Despite advances in molecular and sequencing techniques, there is still a plethora of unknown microorganisms with a relevant ecological role. In the last years, the mostly uncultured Gemmatimonadota phylum is attracting scientific interest because of its widespread distribution and abundance, but very little is known about its ecological role in the marine ecosystem. Here we analyze the global distribution and potential metabolism of the marine Gemmatimonadota group PAUC43f, for which we propose the name of Palauibacterales order. This group presents a saline-related character and a chemoorganoheterotrophic and facultatively aerobic metabolism, although some species might oxidize H2. Given that Palauibacterales is potentially able to synthesize thiamine, whose auxotrophy is the second most common in the marine environment, we propose Palauibacterales as a key thiamine supplier to the marine communities. This finding suggests that Gemmatimonadota could have a more relevant role in the marine environment than previously thought.

Mapping and Assessment of Ecosystems and their Services (MAES) has been widely applied on the European Union (EU) mainland, whereas the EU Overseas entities still bear potential for implementation. This paper presents novel applications of the MAES procedure in the EU Outermost Regions and Overseas Countries and Territories (\"EU Overseas\"). Eight case studies from different geographical areas were analysed through a comparative assessment by applying an established framework following key steps in the MAES process, in order to stipulate lessons learned and recommendations for MAES in the EU Overseas. These key steps include the identification of policy questions, stakeholder networks and involvement, application of MAES methods, dissemination and communication and implementation. The case studies were conducted and analysed under the umbrella of the EU MOVE pilot project, including the Azores, the Canary Islands, Saint Martin, French Guiana, Martinique, Reunion Island and the Falkland Islands. Each case study represented different governance, policy and decision-making frameworks towards biodiversity and environmental protection. Case studies predominantly addressed the policy domains of Nature and Biodiversity Conservation and Marine and Maritime Policy. Ecosystem Services (ES) were assessed across a wide range of themes, biomes and scales, focusing on terrestrial, coastal and marine ecosystems. Results show that the implementation of the case studies was accompanied by extensive communication and dissemination activities. First success stories were visible, where the MAES exercise led to meaningful uptake of the ES concept to policies and decision-making. Yet, there is still work to be done - major bottlenecks were identified related to the MAES implementation centring around financial resources, training and technical expertise. Addressing these aspects can contribute to an enhanced implementation of MAES in the EU Overseas in the future.

Background and study aims A comparative study was conducted to evaluate the efficacy of argon plasma coagulation (APC) therapy in treating post Roux-en-Y gastric bypass (RYGB) weight regain and the incidence of complications related to this procedure, using a sham treatment group as a control. Patients and methods Forty-one patients with a minimum weight regain of 10 kg and a minimum postoperative time of 36 months were randomized into two groups. Results In the APC group (n = 21), the mean initial weight was 100.4 kg and the mean weight regain was 24.94 kg. In the sham group (n = 20), the mean initial weight was 103.65 kg, and the mean weight regain was 25.18 kg. Anastomotic stenosis occurred only after the first APC session. The results for the comparison of APC with the sham group showed a percentage weight regain loss of 63.95 compared to -.65, and weight loss of 15.02 and –0.57), percentage total weight loss of 14.46 and –0.62, excess weight loss of 54.32 % and –2.34 %), and BMI reduction of 5.38 and –0.21, with P

Ni-Cr-Si-Fe-B self-fluxing alloys are commonly used in hardfacing applications; in addition, they are subjected to conditions of wear, corrosion, and high temperatures, but are not used in casting applications. In this work, gravity casting is presented as a potential manufacturing route for these alloys. Three alloys with different chemical compositions were investigated with a focus on microstructure characterization, solidification path, and strengthening mechanisms. Phases and precipitates were characterized using a field emission scanning electron microscope employing energy-dispersive X-ray spectroscopy, wavelength dispersive spectroscopy, and electron backscatter diffraction. Nano- and microhardness indentations were performed at different phases to understand their contribution to the overall hardness of the studied alloys. Hardness measurements were performed at room temperature and high temperature (650 °C). The borides and carbides were the hardest phases in the microstructure, thus contributing significantly to the overall hardness of the alloys. Additional hardening was provided by the presence of hard Ni3B eutectics; however, there was also a small contribution from the solid solution hardening of the γ-Ni dendrites in the high-alloy-grade sample. The amount and size of the different phases and precipitates depended mainly on the contents of the Cr, C, and B of the alloy.

Nowadays, in the automation and aircraft industries, there is a challenge in minimizing the weight of components of vehicles without losing the original properties. In this study, we fabricate hybrid composites based on fiber metal laminates; these materials could be promising composites for high-performance applications. This work is focused on analyzing the effect of high temperature (175 °C) on the mechanical properties of these kind of materials, by introducing NaOH and silane adhesion treatments between metal and prepreg layers and by using vacuum molding processes. Fabricated FML (NaOH treatment) shows a significant improvement in tensile strength in comparison with the ARALL and GLARE reported by ESA. Moreover, developed FMLs at 175 °C kept more than 70% of their tensile strength and modulus and kept 4% of tensile strain at room temperature. The prominent conclusion achieved in this work has been that excellent candidates have been obtained for a wide range of applications, including but not limited to space and aerospace applications.

Background: Corticosteroids have had a central role in the treatment of nephrotic syndrome. The management of these patients who become dependent to steroids is complex, involving different immunosuppressive drugs patterns. The monoclonal antibody anti CD20, Rituximab, is likely to have beneficial effects in cases of steroid-dependent nephrotic syndrome patients with no easy resolution, even when we cannot make a statement about the specific role in the impact. We bring our personal experience in pediatric patients treated with this medication during the last years, to provide a thorough overview and useful information about the role of Rituximab in this pathology. Methods: Retrospective study in patients with steroid-dependent idiopathic nephrotic syndrome controlled in the division of Pediatric Nephrology of a Spanish tertiary hospital in those patients who had received at least one treatment cycle of Rituximab, at any moment along the evolution of the disease. Results: The study involved 8 patients. All of them previously received immunosuppressive therapy. The Rituximab were administered as an intravenous infusion, in a dose of 375 mg/m2, and all doses were administered in a period during which the disease was in remission. The depletion of lymphocytes B (CD19, 0%) were confirmed after the first dose of Rituximab except for one, with a lymphocyte count of 1%. The period of depletion lasts 10,3 months (median; range 6,5–16 months), and only one of the patients registered a relapse of the disease in this period. A reduction of relapses suffered by patients has been shown after the treatment began (3,6 relapses/year in the previous year to the start of the treatment versus 0,1 relapses/year during the first year post-rituximab). The relapse-free survival in the first year reached 83,3% in patients who suffered more than one relapse (75% of patients), and without a relapse after the treatment began in 2 cases. One or more drugs could be removed in 87,5% of patients after the first cycle of rituximab. After the rituximab treatment, we reached a 96,5% decrease in the corticosteroids doses administered (28,5 mg/m2/day during the 3 months pre-treatment versus 1 mg/m2/day in the last 3 months of patient monitoring). Not a significant observed adverse effect attributed to the drug after the post-rituximab monitoring period (median 46,5 months, range 5–97 months). Conclusion: The favorable results reported after rituximab treatment in our patients seems to confirm the effectiveness of this drug in the steroid-dependent nephrotic syndrome, making that therapeutic option into consideration and legitimating the use of the drug in complex cases involving pediatric patients. Even so, it seems recommendable to design pertinent studies to clarify, among others, the optimum regimen of the treatment (dose, interval and cycles), clinical repercussion and potential adverse effects in long terms. Resumen: Introducción: La corticoterapia continúa siendo la piedra angular en el tratamiento del síndrome nefrótico. El manejo de los pacientes que desarrollan dependencia a esteroides es complejo, implicando distintas pautas de fármacos inmunosupresores. El rituximab, anticuerpo monoclonal anti-CD20, parece tener efectos beneficiosos en pacientes con síndrome nefrótico córtico-dependiente de difícil manejo clínico, si bien aún no está bien definido su papel en esta entidad. Con el fin de aportar información útil sobre el papel del rituximab en esta patología, presentamos nuestra experiencia personal en pacientes pediátricos tratados con este fármaco en los últimos años. Materiales y métodos: Estudio retrospectivo en pacientes con síndrome nefrótico idiopático cortico-dependiente controlados en la Sección de Nefrología Pediátrica de un hospital terciario español y que habían recibido, al menos, un ciclo de tratamiento con rituximab durante cualquier momento de la evolución de la enfermedad. Resultados: Se incluyeron en el estudio 8 pacientes. Todos habían recibido terapia inmunosupresora previamente. El rituximab se administró por vía intravenosa a una dosis de 375 mg/m2, y todas las dosis se administraron en situación de remisión de la enfermedad. Se confirmó la depleción completa de linfocitos B (CD19, 0%) tras la primera dosis de rituximab en todos excepto en uno, en el que el recuento fue del 1%. El período de depleción fue de 10,3 meses (mediana; rango 6,5–16 meses), y solamente en uno de los pacientes se registró una recaída de la enfermedad durante este período. Tras el inicio del tratamiento, se observó una reducción del número de recaídas (3,6 recaídas/año en el año previo al inicio del tratamiento versus 0,1 recaídas/año durante el primer año post-rituximab). La supervivencia libre de recaída en el primer año fue del 83,3% en los pacientes con más de una recaída (75% de los pacientes), sin existir recaídas tras el inicio del tratamiento en 2 pacientes. En un 87,5% de los pacientes se pudieron retirar uno o más fármacos tras el primer ciclo de rituximab. Tras el tratamiento con rituximab, se consiguió una reducción del 96,5% de las dosis de corticoides administrados (28,5 mg/m2/día en los 3 meses pre-tratamiento versus 1 mg/m2/día en los 3 últimos meses de seguimiento en los pacientes tratados). Tras el periodo de seguimiento post-rituximab (mediana 46,5 meses, rango 5–97 meses), no se observaron efectos adversos significativos atribuibles al fármaco. Conclusiones: Los resultados favorables reportados tras el tratamiento con rituximab en nuestros pacientes parecen confirmar la eficacia del fármaco en el síndrome nefrótico córtico-dependiente y lo hacen considerar como una opción terapéutica válida en casos de difícil manejo clínico en la edad pediátrica. Aun así, parece recomendable diseñar estudios apropiados que traten de aclarar, entre otros, el régimen óptimo de tratamiento (dosis, intervalo y número de ciclos), repercusión clínica y potenciales efectos adversos a largo plazo.

Abstract The presence of pollutants in soil and water has given rise to diverse analytical and biological approaches to detect and measure contaminants in the environment. Using bacterial cells as reporter strains represents an advantage for detecting pollutants present in soil or water samples. Here, an Escherichia coli reporter strain expressing a chromoprotein capable of interacting with soil or water samples and responding to DNA damaging compounds is validated. The reporter strain generates a qualitative signal and is based on the expression of the coral chromoprotein AmilCP under the control of the recA promoter. This strain can be used simply by applying soil or water samples directly and rendering activation upon DNA damage. This reporter strain responds to agents that damage DNA (with an apparent detection limit of 1 µg of mitomycin C) without observable response to membrane integrity damage, protein folding or oxidative stress generating agents, in the latter case, DNA damage was observed. The developed reporter strain reported here is effective for the detection of DNA damaging agents present in soils samples. In a proof-of-concept analysis using soil containing chromium, showing activation at 15.56 mg/L of Cr(VI) present in soil and leached samples and is consistent with Cr(III) toxicity at high concentrations (130 µg). Our findings suggest that chromogenic reporter strains can be applied for simple screening, thus reducing the number of samples requiring analytical techniques.

Given the relatively recent introduction of burosumab in the management of X-linked hypophosphatemia (XLH), there is limited real-world data to guide its use in clinical practice. As a group of European physicians experienced with burosumab treatment in clinical practice, we convened with the objective of sharing these practice-based insights on the use of burosumab in children and adolescents with XLH. We attended two virtual meetings, then discussed key questions via Within3, a virtual online platform. Points of discussion related to patient selection criteria, burosumab starting dose, dose titration and treatment monitoring. Our discussions revealed that criteria for selecting children with XLH varied across Europe from all children above 1 year to only children with overt rickets despite conventional treatment being eligible. We initiated burosumab dosing according to guidance in the Summary of Product Characteristics, an international consensus statement from 2019 and local country guidelines. Dose titration was primarily guided by serum phosphate levels, with some centers also using the ratio of tubular maximum reabsorption of phosphate to glomerular filtration rate (TmP/GFR). We monitored response to burosumab treatment clinically (growth, deformities, bone pain and physical functioning), radiologically (rickets and deformities) and biochemically (serum phosphate, alkaline phosphatase, 1,25-dihydroxyvitamin D, 25-hydroxyvitamin D, urine calcium-creatinine ratio and TmP/GFR). Key suggestions made by our group were initiation of burosumab treatment in children as early as possible, from the age of 1 year, particularly in those with profound rickets, and a need for clinical studies on continuation of burosumab throughout adolescence and into adulthood.

Introduction: Saethre-Chotzen syndrome, a craniosynostosis syndrome characterized by the premature closure of the coronal sutures, dysmorphic facial features and limb anomalies, is caused by haploinsufficiency of TWIST1. Although the majority of variants localize in the coding region of the gene, two variants in the 5′ UTR have been recently reported to generate novel upstream initiation codons.Methods: Skeletal dysplasia Next-generation sequencing (NGS) panel was used for genetic analysis in a patient with bicoronal synostosis, facial dysmorphisms and limb anomalies. The variant pathogenicity was assessed by a luciferase reporter promoter assay.Results: Here, we describe the identification of a third ATG-creating de novo variant, c.-18C>T, in the 5′ UTR of TWIST1 in the patient with a clinical diagnosis of Saethre-Chotzen syndrome. It was predicted to create an out-of-frame new upstream translation initiation codon resulting in a 40 amino acid larger functionally inactive protein. We performed luciferase reporter promoter assays to demonstrate that the variant does indeed reduce translation from the main open reading frame.Conclusion: This is the third variant identified in this region and confirms the introduction of upstream ATGs in the 5′ UTR of TWIST1 as a pathogenic mechanism in Saethre-Chotzen syndrome. This case report shows the necessity for performing functional characterization of variants of unknown significance within national health services.

BackgroundPrimary CNS tumors are rare. Coexistence of two glial tumors of different histological origins in the same patient is even rarer. Here we describe two unique cases of coexisting distinct glial tumors in opposite hemispheres.CasesPatient 1 is a 38-year-old male who presented with a seizure in February/2016. MRI showed a left parietal and a right frontal infiltrating nonenhancing lesions. Both lesions were resected revealing an oligodendroglioma WHO grade-2 and an astrocytoma WHO grade-2. Patient 2 is a 34-year-old male who presented with a seizure in November/2021. MRI showed a left frontal and a right mesial temporal lobe infiltrating nonenhancing lesions. Both lesions were resected revealing an oligodendroglioma WHO grade-2 and a diffuse low-grade glioma, MAPK pathway-altered (BRAF V600E-mutant). Patient 1 underwent adjuvant treatment. Both patients are without recurrence to date.DiscussionTwo histologically distinct glial tumors may coexist, especially when they are non-contiguous. Pathological confirmation of each lesion is imperative for appropriate management. We highlight the different management of gliomas based on the new CNS WHO 2021 classification compared to its 2016 version, based on NCCN guidelines. Although more molecular markers are being incorporated into glioma classification, their clinical impact of it is yet to be determined.

BackgroundPulsed low-dose-rate radiotherapy (pLDR) is a commonly used reirradiation technique for recurrent glioma, but its upfront use with temozolomide (TMZ) following primary resection of glioblastoma is currently under investigation. Because standard magnetic resonance imaging (MRI) has limitations in differentiating treatment effect from tumor progression in such applications, perfusion-weighted MRI (PWI) can be used to create fractional tumor burden (FTB) maps to spatially distinguish active tumor from treatment-related effect.MethodsWe performed PWI prior to re-resection in four patients with glioblastoma who had undergone upfront pLDR concurrent with TMZ who had radiographic suspicion for tumor progression at a median of 3 months (0-5 months or 0-143 days) post-pLDR. The pathologic diagnosis was compared to retrospectively-generated FTB maps.ResultsThe median patient age was 55.5 years (50-60 years). All were male with IDH-wild type (n=4) and O6-methylguanine-DNA methyltransferase (MGMT) hypermethylated (n=1) molecular markers. Pathologic diagnosis revealed treatment effect (n=2), a mixture of viable tumor and treatment effect (n=1), or viable tumor (n=1). In 3 of 4 cases, FTB maps were indicative of lesion volumes being comprised predominantly of treatment effect with enhancing tumor volumes comprised of a median of 6.8% vascular tumor (6.4-16.4%).ConclusionThis case series provides insight into the radiographic response to upfront pLDR and TMZ and the role for FTB mapping to distinguish tumor progression from treatment effect prior to redo-surgery and within 20 weeks post-radiation.

Resumen: La acondroplasia requiere un seguimiento multidisciplinario, con el objetivo de prevenir y manejar las complicaciones, mejorar la calidad de vida y favorecer su independencia e inclusión social. Esta revisión se justifica por las múltiples publicaciones generadas en los últimos años que han llevado a cabo un cambio en su gestión. Se han desarrollado diferentes guías y recomendaciones, entre las que destacan la realizada por la Academia Americana de Pediatría en 2005 recientemente actualizada (2020), la guía japonesa (2020), el primer Consenso Europeo (2021) y el Consenso Internacional sobre el diagnóstico, abordaje, enfoque multidisciplinario y manejo de individuos con acondroplasia a lo largo de la vida (2021). Sin embargo, y a pesar de estas recomendaciones, actualmente existe una gran variabilidad a nivel mundial en el manejo de las personas con acondroplasia, con consecuencias médicas, funcionales y psicosociales en los pacientes y sus familias. Por ello, es fundamental integrar estas recomendaciones en la práctica clínica diaria, teniendo en cuenta la situación particular de cada sistema sanitario. Abstract: Achondroplasia requieres a multidisciplinary follow-up, with the aim of preventing and managing complications, improving the quality of life and favoring their independence and social inclusion. This review is justified by the multiple publications generated in recent years that have carried out a change in its management. Different guidelines and recommendations have been developed, among which the one made by the American Academy of Pediatrics in 2005 recently updated (2020), the Japanese guide (2020), the first European Consensus (2021) and the International Consensus on the diagnosis, approach multidisciplinary approach and management of individuals with achondroplasia throughout life (2021). However, and despite these recommendations, there is currently a great worldwide variability in the management of people with achondroplasia, with medical, functional and psychosocial consequences in patients and their families. Therefore, it is essential to integrate these recommendations into daily clinical practice, taking into account the particular situation of each health system.

Despite the ubiquity and importance of microbial communities, understanding the population dynamics of mixed cultures in structured environments remains a fundamental problem in microbial ecology. Identifying bacterial strains within a complex microbial community represents a challenging technical problem. We describe a low-cost optomechanical device designed to acquire multi-channel time-lapse images of bacterial colonies growing in agar plates. This device uses a system of addressable LEDs and fluorescence filters to estimate the spatio-temporal distribution of different fluorescently-tagged cells from time-lapse images obtained using a standard DSLR camera with a macro lens. We demonstrate the potential of this device with a range of applications from experimental microbiology. METADATA OVERVIEW Main design files: https://github.com/ccg-esb-lab/baffle DOI archive: https://doi.org/10.5281/zenodo.6960207 Building instructions: https://www.penamiller.com/lab/baffle Scripts to produce figures: https://github.com/ccg-esb-lab/BAFFLE/tree/master/macros Raw data needed to produce figures: https://github.com/ccg-esb-lab/BAFFLE/tree/master/data Target group: school or academic staff, NGOs and scientific staff. Skills required for building the device: 3D printing – intermediate; mechanical assembly – intermediate; electrical assembly – intermediate. Replication: No builds known to the authors so far.

The kidney plays a fundamental role in acid-base homeostasis by reabsorbing the filtered bicarbonate and by generating new bicarbonate, to replace that consumed in the buffering of non-volatile acids, a process that leads to the acidification of urine and the excretion of ammonium (NH4+). Therefore, urine pH (UpH) and urinary NH4+ (UNH4+) are valuable parameters to assess urinary acidification. The adaptation of automated plasma NH4+ quantification methods to measure UNH4+ has proven to be an accurate and feasible technique, with diverse potential indications in clinical practice. Recently, reference values for spot urine NH4+/creatinine ratio in children have been published. UpH and UNH4+, aside from their classical application in the study of metabolic acidosis, have shown to be useful in the identification of incomplete distal renal tubular acidosis (dRTA), an acidification disorder, without overt metabolic acidosis, extensively described in adults, and barely known in children, in whom it has been found to be associated to hypocitraturia, congenital kidney abnormalities and growth impairment. In addition, a low UNH4+ in chronic kidney disease (CKD) is a risk factor for glomerular filtration decay and mortality in adults, even in the absence of overt metabolic acidosis. We here emphasize on the need of measuring UpH and UNH4+ in pediatric population, establishing reference values, as well as exploring their application in metabolic acidosis, CKD and disorders associated with incomplete dRTA, including growth retardation of unknown cause.

The great advances in the development of genomic technologies and their incorporation into routine clinical practice is bringing about a change in which an individual's genetic information is becoming increasingly relevant to their medical care. This is known as genomic medicine. Its implementation is not without barriers, including difficulties in the assessment and interpretation of genomic data, deficient training of professionals and patients in this field, unequal access to units with expertise, and a lack of professional profiles and infrastructures necessary for the incorporation of genomic technologies into routine clinical practice. This article reviews the advances and challenges of genomic medicine. Resumen: Los grandes avances en el desarrollo de las tecnologías genómicas y su incorporación a la práctica clínica habitual, está suponiendo un cambio en el que la información genética de un individuo tiene cada vez mayor relevancia en su atención médica. Esto es lo que se conoce como medicina genómica. Su implementación no está exenta de barreras entre la cuales se encuentran las dificultades en el asesoramiento e interpretación de los datos genómicos, una formación deficiente de los profesionales y los pacientes en este campo, un acceso desigual a unidades con experiencia y una falta de perfiles profesionales e infraestructuras necesarias para la incorporación de las tecnologías genómicas en la práctica clínica habitual. En este artículo se revisan los avances y retos de la medicina genómica.

In this article, we study generalized fractional derivatives and integrals that contain kernels a generalized logarithm depending on a positive continuous function increasing. We generalize the Laplace transform in order to be applicable for the generalized fractional integrals and derivatives.

Abstract Aim: The purpose of this study was to conduct an integrative review aiming to critically analyze the concept of sport development and the different variables that influence this process. Methods: We restricted the search to scientific journals in the area of sports science that published studies related to the social sciences and are indexed in the Scientific Journal Rankings (SJR). In total, 23 scientific journals were analyzed and the final sample of this review consisted of 65 articles. Results: Our findings highlighted that sport development is immersed in specific social, political, and economic factors that influence the extent to which different stakeholders can implement strategies and provide resources to improve participation and performance in sports. In addition to the quantitative aspect, researchers indicate the need for specific strategies that also enable the participation of women, people with disabilities, and other groups that historically have faced constraints to participate in sports. Despite the interesting criteria used to evaluate the sport development, they should be used with caution because most studies were conducted in English-speaking countries reflecting a tendency to report features only of the Western culture. Conclusion: The different stakeholders, strategies, and resources found in this review reinforce that there is no single way to develop sports, as different possibilities may be used according to the characteristics of each context. It also indicates the need to move research to unexplored fields and socio-cultural contexts to increase the reach that sport-based programs may have.

Nowadays, football goalkeepers (GKs) play an important role in the team's organization, namely, considering the offensive and defensive processes. The purpose of our investigation focuses on the notational and T-pattern analysis of the offensive and defensive actions of elite young football GKs. The participating GKs (n = 3, mean age of 16.6 years) presented 8 years of experience in the specific position, were internationally selected for the national team of Portugal, and competed in the national U-17 championship of Portugal. Thirty football matches were observed. The observational sample consisted of defensive actions (n = 225) and offensive actions (n = 296). Two observational instruments were used to codify the actions: the observation system of defensive technical-tactical actions of GKs and the observation system of offensive technical-tactical actions of GKs. Both instruments underwent a validation process, and inter- and intra-observer reliability was tested. The codification of the actions was performed with the LINCE program, and later the data were exported to Microsoft Excel and THEME 5.0. The notational data were analyzed in SPSS, and T-pattern detection analysis was performed in THEME 5.0. The predominant actions of young observed GKs were fundamentally goal defense and participation in the team's offensive process construction through actions performed with the foot and hand. The analysis of T-patterns allowed to identify T-pattern actions in the defensive actions of goal defense and exit of the goal, as well as related to the defensive set pieces. In the offensive process, the analysis of T-patterns reinforced the participation of the GK in the team's first phase of construction and in the execution of goal kicks and actions that start as a result of the actions of the opponent. The GK's defensive actions are mostly focused on the objective of goal defense and offensive actions with the hands and feet are important for their participation in positional attack construction. Our study contributes to a better knowledge of the GK's actions in the competition and is relevant to be considered by the specific position coaches in the training process organization.

Coastal marine lagoons are environments highly vulnerable to anthropogenic pressures such as agriculture nutrient loading or runoff from metalliferous mining. Sediment microorganisms, which are key components in the biogeochemical cycles, can help attenuate these impacts by accumulating nutrients and pollutants. The Mar Menor, located in the southeast of Spain, is an example of a coastal lagoon strongly altered by anthropic pressures, but the microbial community inhabiting its sediments remains unknown. Here, we describe the sediment prokaryotic communities along a wide range of environmental conditions in the lagoon, revealing that microbial communities were highly heterogeneous among stations, although a core microbiome was detected. The microbiota was dominated by Delta- and Gammaproteobacteria and members of the Bacteroidia class. Additionally, several uncultured groups such as Asgardarchaeota were detected in relatively high proportions. Sediment texture, the presence of Caulerpa or Cymodocea, depth, and geographic location were among the most important factors structuring microbial assemblages. Furthermore, microbial communities in the stations with the highest concentrations of potentially toxic elements (Fe, Pb, As, Zn, and Cd) were less stable than those in the non-contaminated stations. This finding suggests that bacteria colonizing heavily contaminated stations are specialists sensitive to change.

This study investigated the hydrological properties of litter in different vegetation cover types, including Eucalyptus sp. plantation, Agroforestry, and Restoration Forest. The research focused on evaluating litter accumulation, composition, water holding capacity, and effective water retention. The results revealed variations in litter accumulation among the stands, and especially Eucalyptus sp., which had a higher proportion of branches compared to leaves. The water holding capacity of the litter differed among the stands. Agroforest and Restoration Forest showed higher litter water capacities than Eucalyptus sp. The composition and decomposition stage of the litter fractions influenced their water retention capabilities, with leaves exhibiting superior water retention. In contrast, branches had lower water absorption due to their hydrophobic nature. Despite these differences, the effective water retention, which indicates the ability of litter to intercept precipitation, was similar among the stands. The findings highlight the importance of considering litter composition and species-specific characteristics in understanding the hydrological functions of litter. This knowledge contributes to effective conservation and management strategies for sustainable land use practices and water resource management. Further research is recommended to expand the study’s scope to include a wider range of forest types and natural field conditions, providing a more comprehensive understanding of litter hydrological functions and their implications for ecosystem processes.

Abstract Poly(3-hydroxybutyrate) (PHB) granule formation in Paracoccus denitrificans Pd1222 was investigated by laser scanning confocal microscopy (LSCM) and gas chromatography analysis. Cells that had been starved for 2 days were free of PHB granules but resynthesized them within 30 min of growth in fresh medium with succinate. In most cases, the granules were distributed randomly, although in some cases they appeared in a more organized pattern. The rates of growth and PHB accumulation were analyzed within the frame of a Genome-Scale Metabolic Model (GSMM) containing 781 metabolic genes, 1403 reactions and 1503 metabolites. The model was used to obtain quantitative predictions of biomass yields and PHB synthesis during aerobic growth on succinate as sole carbon and energy sources. The results revealed an initial fast stage of PHB accumulation, during which all of the acetyl-CoA originating from succinate was diverted to PHB production. The next stage was characterized by a tenfold lower PHB production rate and the simultaneous onset of exponential growth, during which acetyl-CoA was predominantly drained into the TCA cycle. Previous research has shown that PHB accumulation correlates with cytosolic acetyl-CoA concentration. It has also been shown that PHB accumulation is not transcriptionally regulated. Our results are consistent with the mentioned findings and suggest that, in absence of cell growth, most of the cellular acetyl-CoA is channeled to PHB synthesis, while during exponential growth, it is drained to the TCA cycle, causing a reduction of the cytosolic acetyl-CoA pool and a concomitant decrease of the synthesis of acetoacetyl-CoA (the precursor of PHB synthesis).

Abstract In this study we have developed a method based on Flux Balance Analysis to identify human metabolic enzymes which can be targeted for therapeutic intervention against COVID-19. A literature search was carried out in order to identify suitable inhibitors of these enzymes, which were confirmed by docking calculations. In total, 10 targets and 12 bioactive molecules have been predicted. Among the most promising molecules we identified Triacsin C, which inhibits ACSL3, and which has been shown to be very effective against different viruses, including positive-sense single-stranded RNA viruses. Similarly, we also identified the drug Celgosivir, which has been successfully tested in cells infected with different types of viruses such as Dengue, Zika, Hepatitis C and Influenza. Finally, other drugs targeting enzymes of lipid metabolism, carbohydrate metabolism or protein palmitoylation (such as Propylthiouracil, 2-Bromopalmitate, Lipofermata, Tunicamycin, Benzyl Isothiocyanate, Tipifarnib and Lonafarnib) are also proposed.

The global quest for sustainability in industrial activities and waste management has recently boosted biogas production worldwide. However, the rapid decrease in the levelized cost of electricity of renewable energies will soon entail electricity prices from biogas much higher than those from solar or wind power. In this context, the upgrading of biogas into biomethane represents an alternative to on-site biogas combustion. Membrane separation technology is rapidly dominating the biogas upgrading market and displacing scrubbing and adsorption technologies driven by the recent breakthroughs in material science. Similarly, biogas biorefineries have recently emerged as an innovative platform for biogas valorization capable of biotransforming methane into added value products. The limited number of bioproducts naturally synthesized by methanotrophs can be boosted via metabolic engineering of methanotrophs, while novel bioreactor configurations capable of supporting a cost-effective methane mass transfer from the gas phase to the methanotrophic broth are currently under investigation to facilitate the full scale implementation of biogas biorefineries.

Apresentação

Resumen: Antecedentes y objetivo: Las tubulopatías primarias son raras y se presentan habitualmente en la edad pediátrica. Avances recientes en diagnóstico genético y tratamiento han cambiado su historia natural. Este estudio presenta el espectro clínico de una serie de tubulopatías primarias diagnosticadas en una Unidad de Nefrología Pediátrica y ofrece datos de seguimiento a largo plazo sobre crecimiento, filtrado glomerular estimado y complicaciones intercurrentes. Pacientes y métodos: Estudio observacional en 53 pacientes con tubulopatías primarias y defecto genético identificado: síndrome de Gitelman (36%), acidosis tubular renal distal (15%), cistinuria (11%), raquitismo hipofosfatémico ligado al X (7%), síndrome de Dent-Lowe (7%), cistinosis (6%), y uno o 2 casos de otras tubulopatías. Se recogieron datos demográficos, analíticos y clínicos al diagnóstico, durante la evolución y en el momento del estudio. Resultados: La edad (mediana y rango intercuartílico) al diagnóstico fue de 5,08 años (1,33-8,50). Las manifestaciones de presentación más frecuentes fueron descompensaciones metabólicas asociadas a procesos intercurrentes (40%) y talla baja (38%). La talla (media ± DE) fue de −1,39 ± 1,49 al diagnóstico y 1,07 ± 1,54 tras un seguimiento de 18,92 (6,25-24,33) años. Dieciséis (32%) desarrollaron filtrado glomerular estimado

Background and objective: Primary tubulopathies are rare and usually present at pediatric age. Recent advances in genetic diagnosis and treatment have changed its natural history. This study provides the clinical spectrum of a series of primary tubulopathies diagnosed in a Pediatric Nephrology Unit and to offer long-term follow-up data regarding growth, estimated glomerular filtration (eGFR) and intercurrent complications. Patients and methods: Observational study in 53 patients with primary tubulopathies and identified genetic defect: Gitelman syndrome (36%), distal renal tubular acidosis (15%), cystinuria (11%), X-linked hypophosphatemic rickets (7%), Dent-syndrome Lowe (7%), cystinosis (6%), and 1–2 cases of other tubulopathies. Demographic, analytical and clinical data were collected at diagnosis, during evolution and at the time of the study. Results: The age (median and interquartile range) at diagnosis was 5.08 years (1.33−8.50). The most frequent presentation manifestations were metabolic decompensations associated with intercurrent processes (40%) and short stature (38%). Height (mean ± SD) was −1.39 ± 1.49 at diagnosis and 1.07 ± 1.54 after a follow-up of 18.92 (6.25−24.33) years. Sixteen (32%) developed an eGFR

Thoracic aortic aneurysms (TAA) consist of abnormal dilation or the widening of a portion of the ascending aorta, due to weakness or destructuring of the walls of the vessel and are potentially lethal. The congenital bicuspid aortic valve (BAV) is considered a risk factor for the development of TAA because asymmetric blood flow through the bicuspid aortic valve detrimentally influences the wall of the ascending aorta. NOTCH1 mutations have been associated with non-syndromic TAAs as a consequence of BAV, but little is known regarding its haploinsufficiency and its relationship with connective tissue abnormalities. We report two cases in which there is clear evidence that alterations in the NOTCH1 gene are the cause of TAA in the absence of BAV. On the one hand, we describe a 117 Kb deletion that includes a large part of the NOTCH1 gene and no other coding genes, suggesting that haploinsufficiency can be considered a pathogenic mechanism for this gene associated with TAA. In addition, we describe two brothers who carry two variants, one in the NOTCH1 gene and another in the MIB1 gene, corroborating the involvement of different genes of the Notch pathway in aortic pathology.