Mucopolysaccharidosis Type I in Mexico: Case-Based Review.

INTRODUCTION: Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease present in 1:100,000 newborns. Variants in the IDUA (alpha-L-iduronidase) gene decrease the enzyme activity for glycosaminoglycans metabolism. MPS I patients exhibit clinical manifestations that fall on the Hurler, Hurler-Scheie, and Scheie syndrome spectrum. CASE PRESENTATION: We present a male Mexican patient with respiratory exacerbations requiring recurrent hospitalizations. He showed macrocephaly, coarse facies, hepatomegaly, umbilical hernia, and dorsal kyphosis. The sequencing of the IDUA gene revealed the following genotype: c.46_57del12/c.1205G>A. He received combined therapy with hematopoietic stem cell transplantation and enzyme replacement. Mexican case reports were analyzed to estimate the prevalence of the associated genetic variants. CONCLUSION: Despite the challenges of managing this rare disease in Mexico, our patient benefited from the combined therapy. The discrete clinical manifestations and prompt evaluation by a geneticist were crucial in establishing a diagnosis, enabling an early intervention by a multidisciplinary team. The combination of ERT before and after HSCT provided health benefits to our patient.

Long lasting habitable periods in Gale crater constrained by glauconitic clays.

In situ investigations by the Mars Science Laboratory, Curiosity rover, have confirmed the presence of an ancient lake in Gale crater for up to 10 million years. The lake was filled with sediments that eventually converted to a compacted sandstone. However, it remains unclear whether the infilling of the lake was the result of background sedimentation processes or represents punctual flooding events in a largely isolated lake. Here we used the XRD data obtained with the Chemistry and Mineralogy instrument (CheMin), on board the Curiosity rover, to characterize the degree of disorder of clay minerals in the Murray formation (MF) at Gale crater. Our analysis shows that they are structurally and compositionally related to glauconitic clays, which are a sensitive proxy of quiescent conditions in liquid bodies for extended periods of time. Such results provide evidence of long periods of extremely low sedimentation in an ancient brackish lake on Mars, signature of an aqueous regime with slow evaporation at low temperatures. More in general, the identification of lacustrine glauconitic clays on Mars provides a key parameter in the characterization of aqueous Martian paleoenvironments that may once have harbored life.

First and second waves of coronavirus disease-19: A comparative study in hospitalized patients in Reus, Spain.

Many countries have seen a two-wave pattern in reported cases of coronavirus disease-19 during the 2020 pandemic, with a first wave during spring followed by the current second wave in late summer and autumn. Empirical data show that the characteristics of the effects of the virus do vary between the two periods. Differences in age range and severity of the disease have been reported, although the comparative characteristics of the two waves still remain largely unknown. Those characteristics are compared in this study using data from two equal periods of 3 and a half months. The first period, between 15th March and 30th June, corresponding to the entire first wave, and the second, between 1st July and 15th October, corresponding to part of the second wave, still present at the time of writing this article. Two hundred and four patients were hospitalized during the first period, and 264 during the second period. Patients in the second wave were younger and the duration of hospitalization and case fatality rate were lower than those in the first wave. In the second wave, there were more children, and pregnant and post-partum women. The most frequent signs and symptoms in both waves were fever, dyspnea, pneumonia, and cough, and the most relevant comorbidities were cardiovascular diseases, type 2 diabetes mellitus, and chronic neurological diseases. Patients from the second wave more frequently presented renal and gastrointestinal symptoms, were more often treated with non-invasive mechanical ventilation and corticoids, and less often with invasive mechanical ventilation, conventional oxygen therapy and anticoagulants. Several differences in mortality risk factors were also observed. These results might help to understand the characteristics of the second wave and the behaviour and danger of SARS-CoV-2 in the Mediterranean area and in Western Europe. Further studies are needed to confirm our findings.

Inhabited subsurface wet smectites in the hyperarid core of the Atacama Desert as an analog for the search for life on Mars.

The modern Martian surface is unlikely to be habitable due to its extreme aridity among other environmental factors. This is the reason why the hyperarid core of the Atacama Desert has been studied as an analog for the habitability of Mars for more than 50 years. Here we report a layer enriched in smectites located just 30 cm below the surface of the hyperarid core of the Atacama. We discovered the clay-rich layer to be wet (a phenomenon never observed before in this region), keeping a high and constant relative humidity of 78% (aw 0.780), and completely isolated from the changing and extremely dry subaerial conditions characteristic of the Atacama. The smectite-rich layer is inhabited by at least 30 halophilic species of metabolically active bacteria and archaea, unveiling a previously unreported habitat for microbial life under the surface of the driest place on Earth. The discovery of a diverse microbial community in smectite-rich subsurface layers in the hyperarid core of the Atacama, and the collection of biosignatures we have identified within the clays, suggest that similar shallow clay deposits on Mars may contain biosignatures easily reachable by current rovers and landers.

Constraining the preservation of organic compounds in Mars analog nontronites after exposure to acid and alkaline fluids.

The presence of organic matter in lacustrine mudstone sediments at Gale crater was revealed by the Mars Science Laboratory Curiosity rover, which also identified smectite clay minerals. Analogue experiments on phyllosilicates formed under low temperature aqueous conditons have illustrated that these are excellent reservoirs to host organic compounds against the harsh surface conditions of Mars. Here, we evaluate whether the capacity of smectites to preserve organic compounds can be influenced by a short exposure to different diagenetic fluids. We analyzed the stability of glycine embedded within nontronite samples previously exposed to either acidic or alkaline fluids (hereafter referred to as "treated nontronites") under Mars-like surface conditions. Analyses performed using multiple techniques showed higher photodegradation of glycine in the acid-treated nontronite, triggered by decarboxylation and deamination processes. In constrast, our experiments showed that glycine molecules were preferably incorporated by ion exchange in the interlayer region of the alkali-treated nontronite, conferring them a better protection against the external conditions. Our results demonstrate that smectite previously exposed to fluids with different pH values influences how glycine is adsorbed into their interlayer regions, affecting their potential for preservation of organic compounds under contemporary Mars surface conditions.

Can Halophilic and Psychrophilic Microorganisms Modify the Freezing/Melting Curve of Cold Salty Solutions? Implications for Mars Habitability.

We present the hypothesis that microorganisms can change the freezing/melting curve of cold salty solutions by protein expression, as it is known that proteins can affect the liquid-to-ice transition, an ability that could be of ecological advantage for organisms on Earth and on Mars. We tested our hypothesis by identifying a suitable candidate, the well-known psycrophile and halotolerant bacteria Rhodococcus sp. JG3, and analyzing its response in culture conditions that included specific hygroscopic salts relevant to Mars-that is, highly concentrated magnesium perchlorate solutions of 20 wt % and 50 wt % Mg(ClO4)2 at both end members of the eutectic concentration (44 wt %)-and subfreezing temperatures (263 K and 253 K). Using a combination of techniques of molecular microbiology and aqueous geochemistry, we evaluated the potential roles of proteins over- or underexpressed as important players in different mechanisms for the adaptability of life to cold environments. We recorded the changes observed by micro-differential scanning calorimetry. Unfortunately, Rhodococcus sp. JG3 did not show our hypothesized effect on the melting characteristics of cold Mg-perchlorate solutions. However, the question remains as to whether our novel hypothesis that halophilic/psychrophilic bacteria or archaea can alter the freezing/melting curve of salt solutions could be validated. The null result obtained after analyzing just one case lays the foundation to continue the search for proteins produced by microorganisms that thrive in very cold, high-saline solutions, which would involve testing different microorganisms with different salt components. The immediate implications for the habitability of Mars are discussed.

Nanocarriers as Potential Drug Delivery Candidates for Overcoming the Blood-Brain Barrier: Challenges and Possibilities.

The design of a drug that successfully overcomes the constraints imposed by the blood-brain barrier (BBB, which acts as a gatekeeper to the entry of substances into the brain) requires an understanding of the biological firewall. It is also of utmost importance to understand the physicochemical properties of the said drug and how it engages the BBB to avoid undesired side effects. Since fewer than 5% of the tested molecules can pass through the BBB, drug development pertaining to brain-related disorders takes inordinately long to develop. Furthermore, in most cases it is also unsuccessful for allied reasons. Several drug delivery systems (DDSs) have shown excellent potential in drug delivery across the BBB while demonstrating minimal side effects. This mini-review summarizes key features of the BBB, recapitulates recent advances in our understanding of the BBB, and highlights existing strategies for the delivery of drug to the brain parenchyma.

Detection of Potential Lipid Biomarkers in Oxidative Environments by Raman Spectroscopy and Implications for the ExoMars 2020-Raman Laser Spectrometer Instrument Performance.

The aim of the European Space Agency's ExoMars rover mission is to search for potential traces of present or past life in the swallow subsurface (2 m depth) of Mars. The ExoMars rover mission relies on a suite of analytical instruments envisioned to identify organic compounds with biological value (biomarkers) associated with a mineralogical matrix in a highly oxidative environment. We investigated the feasibility of detecting basic organics (linear and branched lipid molecules) with Raman laser spectroscopy, an instrument onboard the ExoMars rover, when exposed to oxidant conditions. We compared the detectability of six lipid molecules (alkanes, alkanols, fatty acid, and isoprenoid) before and after an oxidation treatment (15 days with hydrogen peroxide), with and without mineral matrix support (amorphous silica rich vs. iron rich). Raman and infrared spectrometry was combined with gas chromatography-mass spectrometry to determine detection limits and technical constraints. We observed different spectral responses to degradation depending on the lipid molecule and mineral substrate, with the silica-rich material showing better preservation of organic signals. These findings will contribute to the interpretation of Raman laser spectroscopy results on cores from the ExoMars rover landing site, the hydrated silica-enriched delta fan on Cogoon Vallis (Oxia Planum).

Mineral paragenesis on Mars: The roles of reactive surface area and diffusion.

Geochemical models of secondary mineral precipitation on Mars generally assume semiopen systems (open to the atmosphere but closed at the water-sediment interface) and equilibrium conditions. However, in natural multicomponent systems, the reactive surface area of primary minerals controls the dissolution rate and affects the precipitation sequences of secondary phases, and simultaneously, the transport of dissolved species may occur through the atmosphere-water and water-sediment interfaces. Here we present a suite of geochemical models designed to analyze the formation of secondary minerals in basaltic sediments on Mars, evaluating the role of (i) reactive surface areas and (ii) the transport of ions through a basalt sediment column. We consider fully open conditions, both to the atmosphere and to the sediment, and a kinetic approach for mineral dissolution and precipitation. Our models consider a geochemical scenario constituted by a basin (i.e., a shallow lake) where supersaturation is generated by evaporation/cooling and the starting point is a solution in equilibrium with basaltic sediments. Our results show that cation removal by diffusion, along with the input of atmospheric volatiles and the influence of the reactive surface area of primary minerals, plays a central role in the evolution of the secondary mineral sequences formed. We conclude that precipitation of evaporites finds more restrictions in basaltic sediments of small grain size than in basaltic sediments of greater grain size.

Tracking the weathering of basalts on Mars using lithium isotope fractionation models.

Lithium (Li), the lightest of the alkali elements, has geochemical properties that include high aqueous solubility (Li is the most fluid mobile element) and high relative abundance in basalt-forming minerals (values ranking between 0.2 and 12 ppm). Li isotopes are particularly subject to fractionation because the two stable isotopes of lithium-7Li and 6Li-have a large relative mass difference (∼15%) that results in significant fractionation between water and solid phases. The extent of Li isotope fractionation during aqueous alteration of basalt depends on the dissolution rate of primary minerals-the source of Li-and on the precipitation kinetics, leading to formation of secondary phases. Consequently, a detailed analysis of Li isotopic ratios in both solution and secondary mineral lattices could provide clues about past Martian weathering conditions, including weathering extent, temperature, pH, supersaturation, and evaporation rate of the initial solutions in contact with basalt rocks. In this paper, we discuss ways in which Martian aqueous processes could have lead to Li isotope fractionation. We show that Li isotopic data obtained by future exploration of Mars could be relevant to highlighting different processes of Li isotopic fractionation in the past, and therefore to understanding basalt weathering and environmental conditions early in the planet's history.

Pyrite nanoparticles as a Fenton-like reagent for in situ remediation of organic pollutants.

The Fenton reaction is the most widely used advanced oxidation process (AOP) for wastewater treatment. This study reports on the use of pyrite nanoparticles and microparticles as Fenton reagents for the oxidative degradation of copper phthalocyanine (CuPc) as a representative contaminant. Upon oxidative dissolution in water, pyrite (FeS2) particles can generate H2O2 at their surface while simultaneously promoting recycling of Fe(3+) into Fe(2+) and vice versa. Pyrite nanoparticles were synthesized by the hot injection method. The use of a high concentration of precursors gave individual nanoparticles (diameter: 20 nm) with broader crystallinity at the outer interfaces, providing a greater number of surface defects, which is advantageous for generating H2O2. Batch reactions were run to monitor the kinetics of CuPc degradation in real time and the amount of H2O2. A markedly greater degradation of CuPc was achieved with nanoparticles as compared to microparticles: at low loadings (0.08 mg/L) and 20 h reaction time, the former enabled 60% CuPc removal, whereas the latter enabled only 7% removal. These results confirm that the use of low concentrations of synthetic nanoparticles can be a cost effective alternative to conventional Fenton procedures for use in wastewater treatment, avoiding the potential risks caused by the release of heavy metals upon dissolution of natural pyrites.

Variables predictoras de gravedad del parasuicidio / Predictable variables of the gravity of the parasuicide summary

El parasuicidio constituye un grupo muy heterogéneo de conductas autolíticas, con muy diferente letalidad unas de otras y posiblemente muy distintas repercusiones clínicas y sociales. Objetivo: Identificar variables psicosociales y clínicas asociadas con severidad de conductas parasuicidas. Se valora severidad por el grado de intencionalidad suicida (SIS) y por el tiempo de hospitalización requerido. Método: Estudio transversal de una serie de 170 casos, atendidos consecutivamente en el Servicio de Urgencias de un Hospital General por parasuicidio. Resultados. El 75 por ciento de los casos tenían muy escasa intención suicida. El modelo multivariante que mejor explica mayor intencionalidad suicida incluye: edad, trastorno depresivo, trastorno psicótico y antecedentes familiares de suicidio. Existe una correlación débil entre intencionalidad y tiempo de hospitalización, de forma que pacientes con poca intención suicida tienen hospitalizaciones largas. Las variables más asociadas a un mayor tiempo de hospitalización fueron: ser varón, con patología psiquiátrica como trastorno psicótico o abuso de sustancias, con un bajo funcionamiento social previo y utilización de fármacos y alcohol en el intento: Conclusión: La edad avanzada, antecedentes familiares y presencia de depresión o trastorno psicótico, se asocian con mayor intención suicida. Aunque la mayoría de los pacientes parasuicidas presentan muy baja intencionalidad suicida, la repercusión sociosanitaria inmediata puede ser elevada (AU)