Novel Radiological Brain Anomalies in a Patient with Congenital Muscular Dystrophy due to FKRP Mexican Founder Mutation c.1387A > G: Review of the Literature.

Mutations in the FKRP gene result in phenotypes with severe forms of congenital muscular dystrophies (CMD) and limb-girdle muscular dystrophies. We present a Mexican patient with a pathogenic homozygous mutation in the FKRP gene (c.1387A > G, p.Asn463Asp) and CMD with radiological brain anomalies as disseminated hyperintensity lesions and discrete generalized cortical atrophy. These findings have not been reported to the best of our knowledge in other patients with the same mutation. The mutation c.1387A > G, p.Asn463Asp in the FKRP gene has been described to have a founder effect in central Mexico, since all the patients described to date are of Hispanic origin. Therefore, we emphasize studying mutations in the FKRP gene in Hispanic pediatric patients with clinical suspicion of CMD. Clinical and molecular diagnosis of specific CMD subtypes is needed to help clarify the prognosis, management, and genetic counseling to the patient and families.

Possible molecular mechanisms underlying the development of atherosclerosis in cancer survivors.

Cancer survivors undergone treatment face an increased risk of developing atherosclerotic cardiovascular disease (CVD), yet the underlying mechanisms remain elusive. Recent studies have revealed that chemotherapy can drive senescent cancer cells to acquire a proliferative phenotype known as senescence-associated stemness (SAS). These SAS cells exhibit enhanced growth and resistance to cancer treatment, thereby contributing to disease progression. Endothelial cell (EC) senescence has been implicated in atherosclerosis and cancer, including among cancer survivors. Treatment modalities for cancer can induce EC senescence, leading to the development of SAS phenotype and subsequent atherosclerosis in cancer survivors. Consequently, targeting senescent ECs displaying the SAS phenotype hold promise as a therapeutic approach for managing atherosclerotic CVD in this population. This review aims to provide a mechanistic understanding of SAS induction in ECs and its contribution to atherosclerosis among cancer survivors. We delve into the mechanisms underlying EC senescence in response to disturbed flow and ionizing radiation, which play pivotal role in atherosclerosis and cancer. Key pathways, including p90RSK/TERF2IP, TGFßR1/SMAD, and BH4 signaling are explored as potential targets for cancer treatment. By comprehending the similarities and distinctions between different types of senescence and the associated pathways, we can pave the way for targeted interventions aim at enhancing the cardiovascular health of this vulnerable population. The insights gained from this review may facilitate the development of novel therapeutic strategies for managing atherosclerotic CVD in cancer survivors.

The Role of the miR-17-92 Cluster in Autophagy and Atherosclerosis Supports Its Link to Lysosomal Storage Diseases.

Establishing the role of non-coding RNA (ncRNA), especially microRNAs (miRNAs), in the regulation of cell function constitutes a current research challenge. Two to six miRNAs can act in clusters; particularly, the miR-17-92 family, composed of miR-17, miR-18a, miR-19a, miR-20a, miR-19b-1, and miR-92a is well-characterized. This cluster functions during embryonic development in cell differentiation, growth, development, and morphogenesis and is an established oncogenic cluster. However, its role in the regulation of cellular metabolism, mainly in lipid metabolism and autophagy, has received less attention. Here, we argue that the miR-17-92 cluster is highly relevant for these two processes, and thus, could be involved in the study of pathologies derived from lysosomal deficiencies. Lysosomes are related to both processes, as they control cholesterol flux and regulate autophagy. Accordingly, we compiled, analyzed, and discussed current evidence that highlights the cluster's fundamental role in regulating cellular energetic metabolism (mainly lipid and cholesterol flux) and atherosclerosis, as well as its critical participation in autophagy regulation. Because these processes are closely related to lysosomes, we also provide experimental data from the literature to support our proposal that the miR-17-92 cluster could be involved in the pathogenesis and effects of lysosomal storage diseases (LSD).

Effect of Processed Volcanic Ash as Active Mineral Addition for Cement Manufacture.

In the last quarter of 2021, there was a very significant eruption of the Cumbre Vieja volcano on the island of La Palma, belonging to the Canary Islands, Spain. It generated a large amount of pyroclastic volcanic materials, which must be studied for their possible applicability. This work studies the properties and applicability of the lava and volcanic ash generated in this process. The need for reconstruction of the areas of the island that suffered from this environmental catastrophe is considered in this study from the point of view of the valuation of the waste generated. For this purpose, the possibility of using the fine fraction of ashes and lava as a supplementary cement material (SCM) in the manufacture of cement is investigated. The volcanic material showed a chemical composition and atomic structure suitable for replacing clinker in the manufacture of Portland cement. In this study, the cementing and pozzolanic reaction characteristics of unprocessed volcanic materials and those processed by crushing procedures are analysed. To evaluate the cementitious potential by analysing the mechanical behaviour, a comparison with other types of mineral additions (fly ash, silica fume, and limestone filler) commonly used in cement manufacture or previously studied was carried out. The results of this study show that volcanic materials are feasible to be used in the manufacture of cement, with up to a 22% increase in pozzolanicity from 28 to 90 days, showing the high potential as a long-term supplementary cementitious material in cement manufacturing, though it is necessary to carry out crushing processes that improve their pozzolanic behaviour.

Self-Compacting Recycled Concrete Using Biomass Bottom Ash.

In recent years, the use of self-compacting concrete has been a great advantage and garnered undoubted interest in construction. Due to the environmental impact caused by the consumption of natural aggregates in the manufacture of concrete, a more sustainable approach is needed. An approach for more sustainable construction is to use industrial waste such as bottom ash from the combustion of biomass as a replacement for natural aggregates. This research aims to use biomass bottom ash as a replacement for natural sand (10%, 20% and 30% replacement); in addition, by utilizing a crushing process of the bottom ash, the ash has been used as a filler replacement (replacement 20%, 40% and 60%). The fresh and hardened properties have been evaluated according to the standard. The results show the feasibility of using biomass bottom ash in self-compacting concrete, providing a sustainable alternative in order to minimise environmental impacts related to the extraction and depletion of natural resources.

Alkali-Activated Stainless Steel Slag as a Cementitious Material in the Manufacture of Self-Compacting Concrete.

This work develops the manufacture of self-compacting concrete (SCC) with 50% cement reduction. As an alternative binder to cement, the viability of using an alkali-activated combination of stainless steel slag (SSS) and fly ash (FA) has been demonstrated. SSS was processed applying three different treatments. Binders were manufactured mixing 35% SSS with 65% FA, as precursors, and a hydroxide activating solution. This binder was replaced by the 50% cement for the manufacture of SCC. The results obtained show good mechanical properties and durability. The study shows a reduction in the use of cement in the manufacture of SCC reusing two wastes.

Stabilization of expansive soils with biomass bottom ashes for an eco-efficient construction.

Green philosophy is gaining popularity worldwide. Recycling materials from building demolitions, reutilizing by-products from industrial facilities and exploring the potential uses of waste during a second life cycle are the objectives of this philosophy. In the present article, bottom ashes from electric power generation plants using biofuel combustion were evaluated to verify their potential use as expansive clay stabilizers. Two objectives are pursued: (1) finding a new use for waste that is typically landfilled despite its great potential arising from its technical properties and (2) improving the mechanical properties and reducing the expansive nature of the expansive clays identified during the construction of a motorway. Based on this framework, the present study demonstrated the potential of biomass bottom ashes to stabilize expansive clays. The optimum dosage to improve the properties of clays was determined based on performance parameters, such as plasticity, free swelling or soil collapse. Afterwards, the contaminating potential of ashes was evaluated, being classified as hazardous waste. However, the stabilized mixtures were classified as inert products, thus guaranteeing the environmental feasibility of their use. Finally, the technical application of the stabilized clays as filling materials for embankments and subgrade for light traffic roads was proved. Graphical abstract.

Use of Nanomaterials in the Stabilization of Expansive Soils into a Road Real-Scale Application.

Stabilization is a traditional strategy used to improve soils with the main objective of ensuring that this base is compliant with the technical specifications required for the subsequent development of different infrastructures. This study proposes the use of commercial nanomaterials, based on a solution of silicates, to improve the technical characteristics and bearing capacity of the expansive soil. A physical-chemical property study was carried out on the additive nanomaterial. Subsequently, different mixtures of expansive soil, selected soil and artificial gravel with quicklime and commercial nanomaterials were developed to evaluate the improvement obtained by the use of nanomaterials in the technical characteristics of the soil. Compressive strength and the Californian Bearing Ratio index were considerably increased. A full-scale study was carried out in which the nanomaterial product was applied to two different sections of stabilized road compared to a control section. The results obtained showed that the use of nanomaterial led to the possibility of reducing the control section by 30 cm, thus achieving less use of quicklime and a mechanical means for preparing the road section. The use of commercial nanomaterial improved the behavior of the stabilized sub-base layer. Through life cycle assessment, this study has shown that the use of nanomaterials reduces the environmental impact associated with soil stabilization.

Complete Real-Scale Application of Recycled Aggregates in a Port Loading Platform in Huelva, Spain.

The application of recycled aggregates (RA) from construction and demolition waste and crushed concrete blocks is a very important challenge for the coming years from the environmental point of view, in order to reduce the exploitation of natural resources. In Spain, the use of these recycled materials in the construction of road bases and sub-bases is growing significantly. However, presently, there are few studies focused on the properties and behavior of RA in civil works such as road sections or seaport platforms. In this work, two types of RA were studied and used in a complete real-scale application. Firstly, recycled concrete aggregates (RCA) were applied in the granular base layer under bituminous superficial layers, and secondly mixed recycled aggregates (MRA) which contain a mix of ceramic, asphalt, and concrete particles were applied in the granular subbase layer, under the base layer made with RCA. Both RA were applied in a port loading platform in Huelva, applying a 100% recycling rate. This civil engineering work complied with the technical requirements of the current Spanish legislation required for the use of conventional aggregates. The environmental benefits of this work have been very relevant, and it should encourage the application of MRA and RCA in civil engineering works such as port platforms in a much more extended way. This is the first and documented real-scale application of RA to completely build the base and sub-base of a platform in the Huelva Port, Spain, replacing 100% of natural aggregates with recycled ones.

Potential of Stainless Steel Slag Waste in Manufacturing Self-Compacting Concrete.

The volume of slags generated from the steel industry is a source of possible resources which is constantly increasing. Specifically, in the production of stainless steel, specific and singular slags with unique characteristics are obtained, which allows considering an approach aimed at their use in new recycling ways. This work shows the feasibility of using stainless steel slag as a substitute for limestone filler in the manufacture of self-compacting concrete. The influence of different treatments applied to slags on physical and chemical properties was studied. On the other hand, the mechanical behaviour, as well as the durability acquired in self-compacting concrete, has been analysed. Very encouraging results were obtained, since this research demonstrates the possible application of this stainless steel slag as a construction material, improving sustainability and promoting circular economy processes, which are achieved through the minimisation of the waste disposal and accumulation.

Upscaling the pollutant emission from mixed recycled aggregates under compaction for civil applications.

In general terms, plant managers of sites producing construction wastes assess materials according to concise, legally recommended leaching tests that do not consider the compaction stage of the materials when they are applied on-site. Thus, the tests do not account for the real on-site physical conditions of the recycled aggregates used in civil works (e.g., roads or embankments). This leads to errors in estimating the pollutant potential of these materials. For that reason, in the present research, an experimental procedure is designed as a leaching test for construction materials under compaction. The aim of this laboratory test (designed specifically for the granular materials used in civil engineering infrastructures) is to evaluate the release of pollutant elements when the recycled aggregate is tested at its commercial grain-size distribution and when the material is compacted under on-site conditions. Two recycled aggregates with different gypsum contents (0.95 and 2.57%) were used in this study. In addition to the designed leaching laboratory test, the conventional compliance leaching test and the Dutch percolation test were performed. The results of the new leaching method were compared with the conventional leaching test results. After analysis, the chromium and sulphate levels obtained from the newly designed test were lower than those obtained from the conventional leaching test, and these were considered more seriously pollutant elements. This result confirms that when the leaching behaviour is evaluated for construction aggregates without density alteration, crushing the aggregate and using only the finest fraction, as is done in the conventional test (which is an unrealistic situation for aggregates that are applied under on-site conditions), the leaching behaviour is not accurately assessed.

Conducta de riesgo en infecciones de transmisión sexual y embarazo

Este trabajo, de corte transversal y descriptivo, abarcó a 239 adolescentes del Politécnico "Batalla de Guisa", Río Cauto, en el primer semestre del año 2001. Se les aplicó una encuesta anónima, se procesó la información por el conteo simple, y se representó en tablas estadísticas, con el consiguiente resultado. La mayoría de los adolescentes tuvieron su primera relación sexual entre los 11 y 16 años, y más de la mitad a partir de los 15. El 41 % ha mantenido relaciones sexuales con 2 o más parejas sexuales a la vez, el 79,17 % de los varones no usan condón o lo hacen en algunas ocasiones, y de igual forma las féminas no lo exigen. Solo el 61,34 % usa algún método anticonceptivo, por lo que en las relaciones sexuales se consideran con riesgo de provocar un embarazo en el 55,14 % de los adolescentes, y de contagiarse con infecciones de transmisión sexual en el 46,84 %. Las principales fuentes de información referidas por los adolescentes son los medios de difusión masiva y el Médico de Familia.

This cross-sectional descriptive research work studied 239 adolescents from "Batalla de Guisa" polytechnical school in Río Cauto during the first semester of 2001. They were administered an anonymous survey and the data collected were processed by simple counting and represented in statistical tables. The results were the following: most of the adolescents had their first sexual intercourse at the age of 11 to 16 years, more than half of them at the age of 15 years on. 41 % had had sexual relations with 2 or more sexual partners at the same time. 79,17 % of males did not use condom or did it occasionally whereas females did not demand the use of condom. Only 61,34 % used any contraceptive method, therefore sexual relations in 55,14 % of adolescents may be a risk factor for pregnancy and in 46,84 % may be a risk factor for sexually transmitted diseases. The main sources of information told by the adolescents are mass media and family physicians.

Melanoma maligno de mucosa de nariz y cavidades perinasales / Malignant melanoma of nasal mucosa and perinasal cavity

Se presentan 7 pacientes con diagnóstico de melanoma maligno de mucosa de fosa nasal y cavidades perinasales, atendidos en los últimos 12 años en los Servicios de Otorrinolaringología del Hospital Clínico de la Universidad de Chile José Joaquín Aguirre y Hospital San Juan de Dios. El propósito de esta revisión fue evaluar elementos clínicos y resultados terapéuticos en estos pacientes. Los síntomas de consulta más frecuentes fueron inespecíficos: epistaxis, obstrucción nasal y aumento de volumen nasal. Tres pacientes recibieron tratamiento curativo y 2 paliativo, falleciendo los 5 en menos de 4 años. Dos pacientes no recibieron tratamiento y poseen un control actual menor a 4 meses

Secuelas a corto plazo de la meningitis bacteriana aguda (por Hemophilus influenzae) / Short term sequelae of acute bacterial meningitis (by Hemophilus influenzae)

La meningitis bacteriana aguda es una condición neurológica grave, cuyas repercusiones, a largo plazo, son conocidas parcialmente. Afecta principalmente, al lactante, el que se encuentra en activa maduración cerebral. Allí radica la trascendencia del problema. Se estudió, tanto retrospectiva como prospectivamente, 38 niños dados de alta con el diagnóstico de meningitis bacteriana aguda. Un análisis más profundo, se realizó en 21 lactantes cuyo germen fue el H influenzae, debido a su homogeneidad y volumen adecuados. Se registraron sexo, edad y presencia de complicaciones del proceso agudo. La evaluación del desarrollo psicomotor y el examen neurológico fueron objetivados, al egreso y primer control neurológico, a través de una escala de puntaje. Nuestros resultados, mostraron que, en las etiologías diferentes al H influenzae, el análisis es difícil por el pequeño tamaño de la muestra. En los casos por el germen mencionado, existe una tendencia de correlación inversa, entre edad y gravedad de la enfermedad. Las meningitis graves presentan un mayor índice de secuelas persistentes. En tanto que, el sexo femenino aparece en situación desfavorable. El número de efectos residuales, aumentó significativamente en el lapso de 7 a 30 días que medió entre las dos evaluaciones. Estas cifras, se acercan a las comunicadas previamente, de 50%, en estudios a largo plazo. La presente investigación, plantea la necesidad de continuar controlando la evolución de los niños estudiados, con el fin de aclarar el pronóstico de la meningitis por hemophilus y aproximarse a la real capacidad plástica cerebral del lactante