Factors controlling the water quality of rock glacier springs in European and American mountain ranges.

Rock glaciers (RGs) provide significant water resources in mountain areas under climate change. Recent research has highlighted high concentrations of solutes including trace elements in RG-fed waters, with negative implications on water quality. Yet, sparse studies from a few locations hinder conclusions about the main drivers of solute export from RGs.

Suspect screening of wastewaters to trace anti-COVID-19 drugs: Potential adverse effects on aquatic environment.

During the first period of the SARS-CoV-2 pandemic, the lack of specific therapeutic treatments led to the provisional use of a number of drugs, with a continuous review of health protocols when new scientific evidence emerged. The management of this emergency sanitary situation could not take care of the possible indirect adverse effects on the environment, such as the release of a large amount of pharmaceuticals from wastewater treatment plants. The massive use of drugs, which were never used so widely until then, implied new risks for the aquatic environment.

Manganese-mediated hydrochemistry and microbiology in a meromictic subalpine lake (Lake Idro, Northern Italy) - A biogeochemical approach.

This study presents the findings from several field campaigns carried out in Lake Idro (Northern Italy), a deep (124 m) meromictic-subalpine lake, whose water column is subdivided in a mixolimnion (~0-40 m) and a monimolimnion (~40-124 m). Hydrochemical data highlight two main peculiarities characterizing the Lake Idro meromixis: a) presence of a high manganese/iron ratio (up to 20 mol/mol), b) absence of a clear chemocline between the two main layers. The high manganese content contributed to the formation of a stable manganese dominated deep turbid stratum (40-65 m), enveloping the redoxcline (~45-55 m) in the upper monimolimnion.

Dysregulation of Muscle-Specific MicroRNAs as Common Pathogenic Feature Associated with Muscle Atrophy in ALS, SMA and SBMA: Evidence from Animal Models and Human Patients.

Motor neuron diseases (MNDs) are neurodegenerative disorders characterized by upper and/or lower MN loss. MNDs include amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), and spinal and bulbar muscular atrophy (SBMA). Despite variability in onset, progression, and genetics, they share a common skeletal muscle involvement, suggesting that it could be a primary site for MND pathogenesis.

Twenty-year sediment contamination trends in some tributaries of Lake Maggiore (Northern Italy): relation with anthropogenic factors.

Lake tributaries collect contaminants from the watershed, which may accumulate in lake sediments over time and may be removed through the outlets. DDx, PCB, PAH, PBDE, and trace element (Hg, As, Cd, Ni, Cu, Pb) contamination was analyzed over 2001-2018 period in sediments of the 5 main tributaries and of the outlet of Lake Maggiore (Northern Italy). Sediment cores were collected in two points of the lake, covering 1995-2017 period.

Presence and infectivity of SARS-CoV-2 virus in wastewaters and rivers.

The presence of SARS-CoV-2 in raw wastewaters has been demonstrated in many countries affected by this pandemic. Nevertheless, virus presence and infectivity in treated wastewaters, but also in the receiving water bodies are still poorly investigated. In this study, raw and treated samples from three wastewater treatment plants, and three river samples within the Milano Metropolitan Area, Italy, were surveyed for SARS-CoV-2 RNA detection by means of real time RT-PCR and infectivity test on culture cells.

Glycogen storage in a zebrafish Pompe disease model is reduced by 3-BrPA treatment.

Pompe disease (PD) is an autosomal recessive muscular disorder caused by deficiency of the glycogen hydrolytic enzyme acid α-glucosidase (GAA). The enzyme replacement therapy, currently the only available therapy for PD patients, is efficacious in improving cardiomyopathy in the infantile form, but not equally effective in the late onset cases with involvement of skeletal muscle. Correction of the skeletal muscle phenotype has indeed been challenging, probably due to concomitant dysfunctional autophagy.

Aging-associated genes and microRNAs: a contribution to myogenic program dysregulation in oculopharyngeal muscular dystrophy.

Oculopharyngeal muscular dystrophy (OPMD) is a late-onset muscle disease caused by an abnormal (GCN) triplet expansion within the polyadenylate-binding protein nuclear 1 gene and consequent mRNA processing impairment and myogenic defects. Because a reduced cell proliferation potential and the consequent regeneration failure of aging muscle have been shown to be governed by lethal-7 () microRNA-mediated mechanisms, in the present study, we evaluated the role of in the pathogenesis of OPMD. By a multidisciplinary approach, including confocal microscopy, Western blot, and quantitative PCR analyses on muscle biopsies from patients and unaffected individuals, we found a significant increase in expression in OPMD muscles associated with an unusual high percentage of paired box 7-positive satellite cells.

Urbanization and climate change impacts on surface water quality: Enhancing the resilience by reducing impervious surfaces.

Climate change and urbanization are key factors affecting the future of water quality in urbanized catchments. The work reported in this paper is an evaluation of the combined and relative impact of climate change and urbanization on the water quality of receiving water bodies in the context of a highly urbanized watershed served by a combined sewer system (CSS) in northern Italy. The impact is determined by an integrated modelling study involving two years of field campaigns.

Phosphorus content in a deep river sediment core as a tracer of long-term (1962-2011) anthropogenic impacts: A lesson from the Milan metropolitan area.

Reconstructions of past fluvial contamination through the analysis of deep sediment cores are rarely reported in literature. We examined the phosphorus fractions in a deep (2.6 m) sediment core of the Lambro River downstream of the highly anthropized Milan metropolitan area and upstream of the Po river the main Italian watercourse.

Up-regulation of Toll-like receptors 7 and 9 and its potential implications in the pathogenic mechanisms of LMNA-related myopathies.

Unlabelled: Laminopathies are a heterogeneous group of diseases, caused by mutations in lamin A/C proteins. The most common laminopathy (LMNA-related myopathies, LMNA-RM) affects skeletal and cardiac muscles; muscle histopathology is variable, ranging from mild unspecific changes to dystrophic features, sometimes with inflammatory evidence. Whether the genetic defect might activate innate immune components, leading to chronic inflammation, myofiber necrosis and fibrosis, is still unknown.

Rainfall as primary driver of discharge and solute export from rock glaciers: The Col d'Olen Rock Glacier in the NW Italian Alps.

Three hypotheses exist to explain how meteorological variables drive the amount and concentration of solute-enriched water from rock glaciers: (1) Warm periods cause increased subsurface ice melt, which releases solutes; (2) rain periods and the melt of long-lasting snow enhance dilution of rock-glacier outflows; and (3) percolation of rain through rock glaciers facilitates the export of solutes, causing an opposite effect as that described in hypothesis (2). This lack of detailed understanding likely exists because suitable studies of meteorological variables, hydrologic processes and chemical characteristics of water bodies downstream from rock glaciers are unavailable. In this study, a rock-glacier pond in the North-Western Italian Alps was studied on a weekly basis for the ice-free seasons 2014 and 2015 by observing the meteorological variables (air temperature, snowmelt, rainfall) assumed to drive the export of solute-enriched waters from the rock glacier and the hydrochemical response of the pond (water temperature as a proxy of rock-glacier discharge, stable water isotopes, major ions and selected trace elements).

Botulinum toxin type A affects the transcriptome of cell cultures derived from muscle biopsies of controls and spastic patients.

Botulin toxin (BTX) is widely used for treating skeletal muscle spasticity. Experimental reports on BTX treatment were mainly focused on the neuromuscular junction, while relatively little is known about toxin effects on the muscle cell itself. We investigated possible impact of BTX type A on skeletal muscle cell transcriptome by microarray analysis in muscle-derived cell cultures (fibroblasts, myoblasts and myotubes) from controls and spastic patients, and results were then validated at transcript and protein level.

Zc3h10 is a novel mitochondrial regulator.

Mitochondria are the energy-generating hubs of the cell. In spite of considerable advances, our understanding of the factors that regulate the molecular circuits that govern mitochondrial function remains incomplete. Using a genome-wide functional screen, we identify the poorly characterized protein Zinc finger CCCH-type containing 10 (Zc3h10) as regulator of mitochondrial physiology.

Chemical characterization of biomass fuel particulate deposits and ashes in households of Mt. Everest region (NEPAL).

During a sampling campaign, carried out during June 2012, inside some traditional households located in four villages (Phakding, Namche, Pangboche and Tukla) of Mt. Everest region in southern part of the central Himalaya (Nepal), particulate matter (PM) depositions and ashes have been collected. Moreover, outdoor PM depositions have also been analyzed.

Future hydrological regimes and glacier cover in the Everest region: The case study of the upper Dudh Koshi basin.

Assessment of future water resources under climate change is required in the Himalayas, where hydrological cycle is poorly studied and little understood. This study focuses on the upper Dudh Koshi river of Nepal (151km(2), 4200-8848ma.s.

SEPN1-related myopathy in three patients: novel mutations and diagnostic clues.

Unlabelled: Mutations in SEPN1 cause selenoprotein N (SEPN)-related myopathy (SEPN-RM) characterized by early-onset axial and neck weakness, spinal rigidity, respiratory failure and histopathological features, ranging from mild dystrophic signs to a congenital myopathy pattern with myofibrillar disorganization. We report on clinical and instrumental features in three patients affected with a congenital myopathy characterized by prevalent neck weakness starting at different ages and mild myopathy, in whom we performed diagnosis of SEPN-RM. The patients presented myopathic signs since their first years of life, but the disease remained unrecognized because of a relatively benign myopathic course.

POP and PAH contamination in the southern slopes of Mt. Everest (Himalaya, Nepal): Long-range atmospheric transport, glacier shrinkage, or local impact of tourism?

Due to their physico-chemical properties, POPs and PAHs are subjected to long-range atmospheric transport (LRAT) and may be deposited in remote areas. In this study, the contamination with DDx, PCBs, PBDEs, and PAHs was investigated in sediments and soils collected on the southern slopes of Mt. Everest (Himalaya, Nepal) in two different sampling campaigns (2008 and 2012).

Autophagy, inflammation and innate immunity in inflammatory myopathies.

Autophagy has a large range of physiological functions and its dysregulation contributes to several human disorders, including autoinflammatory/autoimmune diseases such as inflammatory myopathies (IIMs). In order to better understand the pathogenetic mechanisms of these muscular disorders, we sought to define the role of autophagic processes and their relation with the innate immune system in the three main subtypes of IIM, specifically sporadic inclusion body myositis (sIBM), polymyositis (PM), dermatomyositis (DM) and juvenile dermatomyositis (JDM). We found that although the mRNA transcript levels of the autophagy-related genes BECN1, ATG5 and FBXO32 were similar in IIM and controls, autophagy activation in all IIM subgroups was suggested by immunoblotting results and confirmed by immunofluorescence.

Surrogate measures for providing high frequency estimates of total phosphorus concentrations in urban watersheds.

Until robust in situ sensors for total phosphorus (TP) are developed, continuous water quality measurements have the potential to be used as surrogates for generating high frequency estimates. Their use has widespread implications for water quality monitoring programmes considering that TP, in particular, is generally recognised as the limiting factor in the process of eutrophication. Surrogate measures for TP concentration, such as turbidity, have proved useful within natural and agricultural contexts, but their predictive capability for urban watersheds is considered more difficult, due to the different sources of TP, though a strict relationship with turbidity/suspended matter has been clearly described even for these environments.