Surface and groundwater flow exchanges and lateral hydrological connectivity in environments of the Matusagaratí Wetland, Panama.

The Matusagaratí wetland in the Panamanian Darien is one of the largest wetlands in Central America. These types of riverine wetlands, associated with large drainage basins, are complex hydrological environments where variations in water flows and exchanges condition the existence of different wetland habitats. The work aimed to establish the hydrological functioning of the Matusagaratí wetland in different sectors of the Balsas River, emphasizing the exchanges of surface and groundwater flows and the hydrological connectivity that exists between the different laterally linked wetland environments. For this purpose, a monitoring network for surface water and groundwater was established along transects intersecting various wetland environments in the middle and lower basin of the Balsas River. This network is complemented by measurement points for surface water located in streams and in the upper basin of the river. Data collected in sensors installed in boreholes were compared to river level and precipitation data. Continuous water level recording sensors were installed at the monitoring points, and samples were collected for the determination of major ions and stable isotopes. The results indicate that in the mangroves of the lower basin and in the cativo forests of the middle basin levee there is a strong exchange of water between the river and the shallow groundwater. This water exchange is strongly influenced by the tide which spreads from the estuary to the continent through the river. Meanwhile, in the middle basin, mixed forests and orey forests developed on the alluvial plain exhibit a hydrological functioning that depends primarily on precipitation inputs. This study provides data that could serve as a basis for the management of this large tropical wetland that, despite having protection initiatives, could be hydrologically impacted by unsustainable socio-economic practices.

Hydrochemistry and trace metals in water and sediments in forest coastal wetlands influenced by tidal regime in the middle Río de la Plata estuary, Argentina.

Coastal wetland ecosystems are of utmost importance in regulating the mobility and distribution of elements in water and sediments, being the flooding by tidal events a recurrent process that strongly controls the hydrodynamics of the system. The aim of this work is to assess the control of the tidal regime and anthropogenic influence on the dynamics of some trace metals in water and sediments in the Punta Lara Natural Reserve situated in the Río de la Plata littoral. For that purpose, relationship between tidal flows, surface water and groundwater was evaluated. Also, hydrochemistry was analyzed based on the study of major ions and trace metals, being the presence of high concentrations of elements in groundwater, such as Fe and Mn, probably favoured by redox processes associated with organic matter decomposition in the water - sediment interaction. Sediments in the wetland register deficient to minimal enrichment in most of the studied trace metals despite the numerous contributions that the Río de la Plata receives in relation to dissolved and particulate trace metals from diverse anthropogenic contributions. Despite that, there is a moderate enrichment in Pb and Cr in the surface sediments of the wetland. The data analyzed within the natural reserve in relation to the chemical composition of the water and sediments of the coastal wetland showed the strong influence of the tidal regime over the area.

Management of the Brain: Essential Oils as Promising Neuroinflammation Modulator in Neurodegenerative Diseases.

Neuroinflammation, a pivotal factor in the pathogenesis of various brain disorders, including neurodegenerative diseases, has become a focal point for therapeutic exploration. This review highlights neuroinflammatory mechanisms that hallmark neurodegenerative diseases and the potential benefits of essential oils in counteracting neuroinflammation and oxidative stress, thereby offering a novel strategy for managing and mitigating the impact of various brain disorders. Essential oils, derived from aromatic plants, have emerged as versatile compounds with a myriad of health benefits. Essential oils exhibit robust antioxidant activity, serving as scavengers of free radicals and contributing to cellular defense against oxidative stress. Furthermore, essential oils showcase anti-inflammatory properties, modulating immune responses and mitigating inflammatory processes implicated in various chronic diseases. The intricate mechanisms by which essential oils and phytomolecules exert their anti-inflammatory and antioxidant effects were explored, shedding light on their multifaceted properties. Notably, we discussed their ability to modulate diverse pathways crucial in maintaining oxidative homeostasis and suppressing inflammatory responses, and their capacity to rescue cognitive deficits observed in preclinical models of neurotoxicity and neurodegenerative diseases.

Nanomedicines to treat rare neurological disorders: The case of Krabbe disease.

The brain remains one of the most challenging therapeutic targets due to the low and selective permeability of the blood-brain barrier and complex architecture of the brain tissue. Nanomedicines, despite their relatively large size compared to small molecules and nucleic acids, are being heavily investigated as vehicles to delivery therapeutics into the brain. Here we elaborate on how nanomedicines may be used to treat rare neurodevelopmental disorders, using Krabbe disease (globoid cell leukodystrophy) to frame the discussion. As a monogenetic disorder and lysosomal storage disease affecting the nervous system, the lessons learned from examining nanoparticle delivery to the brain in the context of Krabbe disease can have a broader impact on the treatment of various other neurodevelopmental and neurodegenerative disorders. In this review, we introduce the epidemiology and genetic basis of Krabbe disease, discuss current in vitro and in vivo models of the disease, as well as current therapeutic approaches either approved or at different stage of clinical developments. We then elaborate on challenges in particle delivery to the brain, with a specific emphasis on methods to transport nanomedicines across the blood-brain barrier. We highlight nanoparticles for delivering therapeutics for the treatment of lysosomal storage diseases, classified by the therapeutic payload, including gene therapy, enzyme replacement therapy, and small molecule delivery. Finally, we provide some useful hints on the design of nanomedicines for the treatment of rare neurological disorders.

Assessment of cation exchange as conditioning processes of water chemistry in freshwater lenses.

Freshwater lenses are groundwater sources of limited dimensions that can be usually found in a variety of climates worldwide. These aquifers' quality is important for socioeconomic development, being cation exchange one of the most important geochemical processes that can change the water geochemistry. This study aims to assess the cation exchange processes that determine the chemistry of freshwater lenses in a multilayer aquifer type, considering the center-east of the Pampean Region (Argentina) as a case study. Water samples were taken from the freshwater lenses at different depths to analyze major ions in the laboratory. In addition, geological profiles were made along with the extraction of sediment samples for X-ray diffractometry (XRD) and laboratory tests to analyze the cation exchange capacity. The results show that water stored in the lenses has a vertical facies variation from Ca-HCO3 to Na-HCO3 . According to the laboratory results, the change of water facies mainly occurs in the clayey sediments that divide the carbonate bioclastic material above and the loessic sediment below, being cation exchange the most important process. PRACTITIONER POINTS: Cation exchange is the main geochemical process regulating groundwater chemistry. Hydrochemical changes determine the quality of freshwater lenses. Na/Ca exchange is mainly regulated by the groundwater flow into the bioturbated clay. Batch exchange tests were also carried out to quantify the Na/Ca exchange processes.

Vegetation changes in coastal wetlands of the outer estuary of the Río de la Plata as a result of anthropic-induced hydrological modifications.

Samborombón Bay in Argentina is one of the largest coastal wetlands of South America. The Ajó wetlands are located to the south of Samborombón Bay and despite being protected natural areas, the land is privately owned and used for extensive cattle ranching where producers build embankments to reclaim salt marshes land and expand cattle grazing areas. The aim of this study is to identify the occurrence of embankments in the landscape of the Ajó coastal wetlands, to describe their effect on-plant communities' structure (composition and species abundances), and environmental features (soil and water physical and chemical variables). Embankments were mapped using satellite images and aerial photographs. Based on the mapping, 7 sampling areas of marshes with embankments were selected for the study of vegetation, water, and soil. Each sampling area has an embankment that interrupts a tidal channel dividing the marsh into two sectors, one connected to the tidal flow and the other disconnected. Vegetation and soil sampling were performed along a transect covering 3 relative topography levels (High salt marshes, Low salt marshes, and Mudflat-tidal channel) on each side. The results show that embankments and livestock activity modify the plant community structure and environmental features. Disconnected marshes compared to connected ones have a higher abundance of grassland species, freshwater species, salt-tolerant species, and exotic species. Surface water has a greater range of variability in electrical conductivity and the majority ions and soil salinity is higher in disconnected high marshes than in connected ones. In a context of global change, there is uncertainty about the tendency of these observed changes. In this sense, the study carried out based on the monitoring of vegetation, soils, and water is a relevant tool for detecting environmental impacts in wetlands whose hydrology has been anthropically modified.

Nutrient dynamics in water resources of productive flatland territories in the Pampean region of Argentina: evaluation at a watershed scale.

The Pampean plains in South America are well-known for their livestock and agricultural productivity. The peri-urban watershed of El Pescado Creek (Central-Eastern Argentina) has been significantly modified in the last few years due to local land-use changes. This work aims to analyze the dynamics of nutrient content associated with the surface water-groundwater relationship in this watershed and to define the trophic state of the watercourse. Sampling sites were selected for both surface water and groundwater analyses, and field surveys were carried out during the spring and summer of 2017. Handmade shallow groundwater wells were installed along the floodplain of the watercourse. Deep groundwater was analyzed in agricultural and livestock farms. In situ determinations included dissolved oxygen (DO), pH, electrical conductivity (EC), turbidity, transparency, and temperature measurements. Laboratory analyses included NO3--N, total nitrogen (TN), soluble reactive phosphorus (SRP), total phosphorus (TP), and phytobenthonic and phytoplanktonic chlorophyll-a. Results showed an increase in EC and nutrient concentration in the summer samples (both in surface water and shallow groundwater), along with higher turbidity of the surface water. Water flow was dissimilar between samplings (spring: 1.735 m3/s, summer: 0.065 m3/s), showing contrasting hydrological scenarios. Low wash-out conditions enhanced phytobenthonic algae biomass growth, turning most of the sites towards a eutrophic state in summer. Our results showed that the dynamics of nitrogen and phosphorus compounds in the watershed of El Pescado Creek depend on the hydrodynamic processes of the watershed, the different land-uses, and the chemical characteristics of these compounds. In order to develop sustainable management strategies, further understanding of nutrient concentrations effects, and the factors affecting them, must be done in this area of the Pampean region.

Role of rock glaciers and other high-altitude depositional units in the hydrology of the mountain watersheds of the Northern Patagonian Andes.

Mountain depositional landforms are important units for freshwater supply in regions with water deficits and significant droughts during the summer season. In the Northern Patagonian Andes, the cold climatic events during the Pleistocene period left a large number of glacial and periglacial depositional landforms, among which a glacial cirque called La Hoya stands out. An analysis of geomorphological landforms, climatic data, soil temperature, flows in springs and streams, electrical conductivity measurements, and stable isotope determination of water, were made to study the hydrological role of these depositional mountain landforms. In this region, precipitations are concentrate during the winter season when an important snow cover accumulates and persists until spring. During winter and spring seasons, part of the snowmelt infiltrates, being kept in solid states inside the depositional landforms, and part of it contributes to the runoff between winter and summer. At the ends of spring and early summer, the snowmelt is the main water contribution to the La Hoya watershed. During late summer and autumn, the most important water contribution is from groundwater discharge. Where glacial ice is absent and the presence of permafrost is limited or non-existent, morphosedimentary units are important landforms for water storage and streams sustenance. This is the case of the city of Esquel, which depends exclusively on the "Los Bandidos" stream for water supply, which is sustained throughout the year by these landforms. The increase in temperature and the decrease in precipitation in this region highlights the importance of the high-altitude depositional landforms for the capture, storage, and distribution of water resources in the Northern Patagonian Andes.

Hydrochemistry, isotope studies and salt formation in saline lakes of arid regions: Extra-Andean Patagonia, Argentina.

The most favourable locations for the development of saline lakes are in the rain-shadow of mountain ranges, which provide large areas of precipitation catchment while the base of the basin is under arid climate and exposed to evaporation. These conditions are found in Extra-Andean Patagonia under the rain-shadow generated by the Andean cordillera. There, an endorheic basin with two shallow and saline lakes, Cari Laufquen Chica (CLC) and Cari Laufquen Grande (CLG), was studied with the aim of analysing the factors that condition the hydrochemical processes acting in the formation of evaporites associated with these environments. A monitoring network was installed and five surface and groundwater survey campaigns were carried out at different points in the basin to define groundwater flow and also to extract samples. In situ pH, electrical conductivity and temperature and laboratory physicochemical determinations of major ions and stable isotopes of the water were measured. SEM-EDS and XRD analyses of saline crusts from the edge of the lakes and adjacent sediments were carried out. The obtained results allowed identifying that CLC and CLG saline lakes have different surface water-groundwater configurations. CLC is a flow-through shallow lake, while CLG is a discharge shallow lake. The analysis of the saline precipitates and the chemical facies of the water allows identifying cycles of dissolution, evaporation and precipitation in both saline lakes. However, the different groundwater flow between the two lakes is reflected in their salinity as well as in the evolution and development of saline precipitates. CLC saline lake shows a dissolution-precipitation trend of thenardite and Ca-Mg carbonates, whereas CLG saline lake displays a trend of dissolution-precipitation of halite, thenardite and trona with strong dominance of halite. The present study identifies for the first time the main factors conditioning hydrochemical processes in these saline lakes of extra-Andean Patagonia. Our results indicate that the hydrological configuration with respect to the groundwater flow is the prevailing factor setting the hydrochemical processes that trigger the formation of salt crusts.

Flood hazard assessment in large plain basins with a scarce slope in the Pampean Plain, Argentina.

Floods are one of the most common natural phenomena and represent a serious hazard when they affect human activities. Structural measures are commonly used to mitigate them; however, these do not always give good results, mainly in plain areas with scarce slope. In this sense, the generation of a flood hazard map contributes to adequate hazard management and disaster prevention. The aim of this work is to evaluate the flood hazard areas in hydrological plain basins with scarce slope, taking as a case study the Samborombón river basin located in the Pampean Plain, Argentina. For this, a flood hazard map was made based on the analytical hierarchy process and using a GIS, taking into account physical aspects of the terrain, observations, and field measurements. Likewise, the map was validated using satellite images and the inhabitants in danger in the basin were quantified. The results show that the flood hazard areas correspond mainly to the floodplain of rivers and tributaries, while the main and secondary divide zones have low flood hazard sectors. On the other hand, numerous urban settlements were identified within flood hazard areas, these being urban settlements in the vicinity of old urban centers and new gated communities with high value homes, quantifying 1961 inhabitants at flood hazard and showing poor territorial planning. The methodology proposed gives to the management agencies the possibility of generating land use maps, as well as designing mitigation and contingency plans after a large rainfall event.

Processes controlling groundwater salinity in coastal wetlands of the southern edge of South America.

The Argentine Atlantic coast constitutes an extensive area where numerous wetlands develop under humid, semi-arid and arid conditions, in which there are also variations in relation to tidal influence with estuarine, mixing and marine areas. The aim of this work is to conduct a comparative study on the processes controlling the groundwater salinity in medium to high latitudinal coastal wetlands of four natural reserves with contrasting hydrological and climatic conditions. In each study area a monitoring network was established where the content of CO32-, HCO3-, Cl-, SO42-, Ca2+, Mg2+, Na+, K+, δ2H and δ18O of the water were determined. The results show a saline groundwater increase along a latitudinal gradient with electrical conductivities varying from 0.3 mS/cm at 34°47' S to 154 mS/cm at 42° 25' S. The results obtained show that the ionic contents in groundwater are partially controlled by the salinity of the tidal flood water whose electrical conductivity varies from 0.3 mS/cm in the Río de la Plata estuary to 52 mS/cm in the sea water of the southern study area. In the southern wetlands, where an increase of aridity is also registered, there is a clear increase in groundwater ionic concentrations, which occurs without isotopic enrichment indicating processes of salts dissolution of the sediments. The evaporites precipitation occurs due to the total evaporation of the tidal water that floods the wetlands in spring high tides. The salinization of groundwater responds to natural processes inherent to the hydrological, climatic and lithological characteristics of each wetland. Given that the areas studied correspond to natural reserves, the results generate databases that will allow the identification of future changes in salinity associated with anthropic influences or changes in hydrological and/or climatic conditions as a result of climate change.

Hydrodynamic and hydrochemistry of wet meadows and shallow lakes in areas of the Patagonian basaltic plateaus, Argentina.

Extra-Andean Patagonia, located in the south end of South America, is a wide arid region where the basaltic plateau landscape dominates. Associated with the basaltic plateaus, wet meadows and shallow lakes make up environments of relevance due to the ecosystemic services they provide. The aim of this work was to define the processes and factors that condition the hydrodynamics and hydrogeochemistry of wet meadows and shallow lakes in a sector of the Patagonian plateau basalts. For this, detailed geological and geomorphological studies were carried out and water was sampled at 29 points for the analysis of major ions and, in some samples, stable isotopes of the water molecule. Values of δ18O and δ2H similar to the local meteoric line in the water of wet meadows indicate that rainwater quickly infiltrates through the fractures of the basaltic plateaus and stores in the underlying sediments. Groundwater discharge occurs in the scarp zone due to changes in sediment permeability. The weathering of silicates in basalts, ion exchange in the sediment clays, and the dissolution of soluble salts provided by the dust control water chemistry of this wetland. Water from wet meadows drains into saline endorheic basins of sodium chloride composition where the isotopic signal is indicative of evaporation percentages close to 95%. The high evaporation rates cause the precipitation of evaporitic salts at the edges of shallow lakes with carbonate, sulfate, and chloride species controlled by the dominance of sodium in the water.

Oregano (Origanum vulgare L.) essential oil provides anti-inflammatory activity and facilitates wound healing in a human keratinocytes cell model.

Skin acts as a protective barrier between the body and the external environment. Skin wounds are a common inflammatory disorder for the solution of which plants and essential oils have been applied as a medical option for centuries. Origanum vulgare essential oil (OEO) is largely used in folk medicine, but its molecular mechanisms of action are not fully known. In this study, we evaluated the anti-inflammatory/antioxidant activity as well as wound healing capacity of a well-characterized OEO on human keratinocytes NCTC 2544 treated with interferon-gamma (IFN-γ) and histamine (H) or subjected to a scratch test. The expression of pro-inflammatory mediators such as reactive oxygen species (ROS), inter-cellular adhesion molecule (ICAM)-1, inducible nitric oxide synthase (iNOS), and cyclooxygenase (COX)-2 were verified. The DNA damage was shown by the formation of 8-oxo-7,8-dihydro-2'-deoxyguanosine (8-OHdG) and activation of proliferating cell nuclear antigen (PCNA). Moreover, the abnormal modification of extracellular matrix components (ECM) was examined by determining matrix metalloproteinase (MMP)-1, and -12. Compared to untreated control, OEO showed efficacy in supporting and enhancing the cell motility. In IFN-γ and H treated cells, OEO displayed a significant reduction of ROS, ICAM-1, iNOS, COX-2, 8-OHdG, MMP-1, and MMP-12. OEO proved useful to treat inflammation and support cell motility during wound healing.

Functionalization of Single and Multi-Walled Carbon Nanotubes with Polypropylene Glycol Decorated Pyrrole for the Development of Doxorubicin Nano-Conveyors for Cancer Drug Delivery.

A recently reported functionalization of single and multi-walled carbon nanotubes, based on a cycloaddition reaction between carbon nanotubes and a pyrrole derived compound, was exploited for the formation of a doxorubicin (DOX) stacked drug delivery system. The obtained supramolecular nano-conveyors were characterized by wide-angle X-ray diffraction (WAXD), thermogravimetric analysis (TGA), high-resolution transmission electron microscopy (HR-TEM), and Fourier transform infrared (FT-IR) spectroscopy. The supramolecular interactions were studied by molecular dynamics simulations and by monitoring the emission and the absorption spectra of DOX. Biological studies revealed that two of the synthesized nano-vectors are effectively able to get the drug into the studied cell lines and also to enhance the cell mortality of DOX at a much lower effective dose. This work reports the facile functionalization of carbon nanotubes exploiting the "pyrrole methodology" for the development of novel technological carbon-based drug delivery systems.

Defense and protection mechanisms in lung exposed to asbestiform fiber: the role of macrophage migration inhibitory factor and heme oxygenase-1.

Fluoro-edenite (FE), an asbestiform fiber, is responsible for many respiratory pathologies: chronic obstructive diseases, pleural plaques, fibrosis, and malignant mesothelioma. Macrophage migration inhibitory factor (MIF) is one of the first cytokines produced in response to lung tissue damage. Heme oxygenase-1 (HO-1) is a protein with protective effects against oxidative stress. It is up regulated by several stimuli including pro-inflammatory cytokines and factors that promote oxidative stress. In this research, the in vivo model of sheep lungs naturally exposed to FE was studied in order to shed light on the pathophysiological events sustaining exposure to fibers, by determining immunohistochemical lung expression of MIF and HO-1. Protein levels expression of HO-1 and MIF were also evaluated in human primary lung fibroblasts after exposure to FE fibers in vitro. In exposed sheep lungs, MIF and HO-1 immunoexpression were spread involving the intraparenchymal stroma around bronchioles, interstitium between alveoli, alveolar epithelium and macrophages. High MIF immunoexpression prevails in macrophages. Similar results were obtained in vitro, but significantly higher values were only detected for HO-1 at concentrations of 50 and 100 µg/mL of FE fibers. MIF and HO-1 expressions seem to play a role in lung self-protection against uncontrolled chronic inflammation, thus counteracting the strong link with cancer development, induced by exposure to FE. Further studies will be conducted in order to add more information about the role of MIF and HO-1 in the toxicity FE-induced.

Geogenic arsenic contamination of wet-meadows associated with a geothermal system in an arid region and its relevance for drinking water.

Arsenic (As) is an important component in thermal springs, which can reach water sources constituting an important hazard for both the environment and people. For this reason, the aim of this paper is to analyze the geologic and geochemical processes that determine the presence and concentration of As in wet-meadows associated to a geothermal field in Patagonia (Argentina) which is used as water supply. To achieve this, during field surveys temperature, pH and electrical conductivity were measured and water and rock samples were taken. Major ions and stable isotopes were determined in water samples while As content was analyzed in both water and rock samples. Due to geological control and chemical analyses, three areas were recognized with respect to major streams in the geothermal field: wet-meadows at headwaters, thermal springs at mid basin and wet-meadows at down basin. Even though, water in wet-meadows have the same origin the obtained results evidence how thermal springs at mid-basin influence the chemistry of these wetlands, particularly those at down basin. In the latter, As raises over two orders of magnitude than the ones at headwaters which surpasses the reference limit, proving that thermal springs are also responsible for the increase of the As content in water changing its quality as a source of potable water. The concentration of this metalloid could be higher but it is retained in travertine and sinter deposits formed near the geothermal discharge area. Understanding processes controlling water quality and the chemistry of As in this type of wetlands is of vital importance, mainly in an arid region where water supply sources are scarce.

Land-use changes in the periurban interface: Hydrologic consequences on a flatland-watershed scale.

The aim of this work was to analyze the hydrologic effects on surface runoff and infiltration of changes in land use and land coverage. The periurban-flatland watershed of El Pescado Creek (Argentina) was the study site investigated. We used Geographic-Information-System techniques together with the curve-number method (CN) to estimate the surface runoff in five land-use scenarios having increasing levels of anthropic impact (years 1986, 1996, 2006, 2016, and 2026) considering two rainfalls and the antecedent-runoff conditions (ARC) defined by that methodology. We identified three hydrologic-soil Groups (B, C, and D) and five land uses (grassland, forest, urbanization, greenhouses, and poultry farms). Land use and land coverage change process increased CN values, and consequently the estimated surface runoff, especially in the upper watershed. Changes towards impervious (687 ha with greenhouses and poultry farms) or semi-impervious land coverage (800 ha with urbanizations) affected infiltration. The most contrasting results were related to the ARC I, II, and III weighted-average infiltration of the watershed that diminished from above 93.0%, down to 88.5% and finally to 50.4%, respectively (calculated with data from the 55.8-mm rainfall), and from 86.6%, to 58.3%, and to finally 28.8% (calculated with data from the 117.8 mm rainfall). Simulating a near-future land-use scenario (year 2026) enabled us to estimate the watershed pattern by adding new area containing semi-impervious and impervious land coverage. The estimated weighted-average infiltrations (ARC II) were 81.3% and 54.9%, for the above 55.8-mm and 117.8-mm rainfalls, respectively. Changes concerning infiltration might be disturbing the natural recharging process of aquifers, carrying out modifications in the hydrodynamics of the watershed, and also affecting water supply for human activities in the territory.

Screening for Krabbe disease: The first 2 years' experience.

OBJECTIVES: Globoid cell leukodystrophy or Krabbe disease is an autosomal recessive lysosomal storage disorder characterized by a deficiency in galactosylceramidase (GALC) which hydrolyses galactosylceramide and galactosylsphingosine (psychosine). The accumulation of psychosine results in the apoptosis of myelin-forming cells. The goals of this research were to identify the heterozygous carriers of Krabbe disease in Sicily (Italy), to prevent the birth of foetuses affected by this disease, and eventually in the presence of positive embryos to direct them towards a treatment before symptoms occur when it is too late to receive a useful therapy. METHODS: Since more than 100 mutations have been reported as a cause of Krabbe disease, we started to screen relatives of the affected patients, whose mutation was known. We used a fast, sensitive and painless assay extracting genomic DNA from buccal swabs. The genotypes of single-nucleotide polymorphisms (SNPs) were analysed to identify the carriers of the selected mutations. RESULTS: In the last 2 years, we conducted the analysis of almost 100 subjects and individuated 40 heterozygotes carriers of Krabbe disease. One of the women examined was pregnant. CONCLUSIONS: The knowledge obtained from our investigations provided and will provide notable practical benefit to families in which the disease is manifested and to researchers who deal with this rare pathology. Finally, the results of our study will be useful to know the real incidence of Krabbe disease in a large territory where it is particularly present and to start a Krabbe's register, which at present does not exist.

Increased isoprostanoid levels in brain from murine model of Krabbe disease - Relevance of isoprostanes, dihomo-isoprostanes and neuroprostanes to disease severity.

Krabbe disease (KD) is a rare and devastating pediatric leukodystrophy caused by mutations in the galactocerebrosidase (GALC) gene. The disease leads to impaired myelin formation and extensive myelin damage in the brain. Oxidative stress is implicated in the pathogenesis of KD but insofar few information is available. The gray and white matter of the brain are rich in docosahexaenoic acid and adrenic acid respectively and under non-enzymatic oxidative stress, release isoprostanoids, i.e. F4-neuroprostanes (F4-NeuroPs) and F2-dihomo-isoprostanes (F2-dihomo-IsoPs). In this study, the formation of isoprostanoids in brain tissue was investigated in a well-established KD mouse model (twitcher) that recapitulates the human pathology. According to the genotype determinations, three groups of mice were selected: wild-type control mice (n = 13), heterozygotes mice (carriers of GALC mutations, n = 14) and homozygous twitcher mice (n = 13). Measurement of F2-dihomo-IsoP and F4-NeuroP levels were performed on whole brain tissue obtained at day 15 and day 35 of the life cycle. Brain isoprostanoid levels were significantly higher in the twitcher mice compared to the heterozygous and wild-type control mice. However, F2-dihomo-IsoP and F4-NeuroP levels did not differ in brain of day 15 compared to day 35 of the heterozygote mice. Interestingly, isoprostanoid levels were proportionally enhanced with disease severity (F2-dihomo-IsoPs, rho = 0.54; F4-NeuroPs, rho = 0.581; P values ≤ 0.05; n = 13). Our findings are the first to show the key role of polyunsaturated fatty acid oxidative damage to brain grey and white matter in the pathogenesis and progression of KD. This shed new insights on the biochemical indexes of KD progression, and potentially provide information for novel therapeutic targets.

Geochemical mechanisms controlling the isotopic and chemical composition of groundwater and surface water in a sector of the Pampean plain (Argentina).

The Samborombón River basin, which has eminently rural characteristics, develops within the Pampean plain along with other basins with serious contamination problems due to the growth of the industrial activities and the absence of a proper groundwater management. Considering that the knowledge of the natural baseline quality is important to measure an imposed environmental change, the aim of this work was to study the mechanisms that control the natural composition of groundwater and superficial water in the Samborombón River basin. In order to achieve this, detailed analysis of the minerals forming the aquifer matrix along with the data obtained from isotopes, major and trace elements were performed. Geochemical processes that define the chemical characteristics and contribute to the evolution of both surface and groundwater are associated with rainwater infiltration, carbonate dissolution, cation exchange and evaporation. Additionally, the low concentration of heavy metals may respond to natural background levels. Comprehending the hydrochemical processes governing groundwater and superficial water quality, particularly in a rural area where water supply is vital for the development of human activities, is essential to prevent environmental deterioration and thus, enhance socio-economic growth.