Drinking water quality is a major concern in Quaternary sedimentary areas with unplanned urban growth and poor waste management, like Dili City, which relies heavily on groundwater to meet daily needs. This study assesses the suitability of groundwater for drinking by analyzing 113 samples from domestic wells, taking into account natural and human influences. The analysis focuses on major and minor ions (Ca²⁺, Mg²⁺, Na⁺, K⁺, SO₄²⁻, HCO₃⁻, F⁻), physicochemical parameters (pH, electrical conductivity, total dissolved solids), and toxic elements (Mn, Fe, Pb, Al, As, Zn, Cd, Ni). Statistical methods (PCA and HCA) are used to determine the group of water types and trace chemical origins, while the Water Quality Index (WQI) assesses drinking suitability. Groundwater types identified include Ca-Cl-HCO₃, mixed Ca-Mg-HCO₃, Na-HCO₃, mixed Na-Cl-HCO₃, and Ca-HCO₃, with Ca-Mg-HCO₃ being the most common. The major ions are ordered as Ca > Na > Mg > K and HCO₃ > SO₄ > Cl. The Gibbs diagram shows the main geochemical processes are rock-water interactions, especially silicate and carbonate weathering. Organic matter and human activities also play a role. The WQI shows that 93.81% of the samples are “excellent” for drinking, while 2.65% and <1% are “good” and “poor” quality respectively.

Many tree species discovered in tailings and polluted soil in closed mines demonstrate the capacity to accumulate certain metals in the above-ground tissues. As a result, these communities that can tolerate toxic trace elements are crucial in the cleanup of mine soils. Also, these plants might develop and spread on low-nutrient substrates, which would greatly benefit the revegetation of mine tailings. It was also discovered that, despite their lower accumulation when compared to herbaceous and shrub species, trees from the studied regions can be very effective for the phytoextraction and phytostabilization of metals due to their higher biomass and bioproductivity, particularly when established in less contaminated soils on the studied areas' periphery. Furthermore, if the metal concentrations in the above-ground parts are kept low, the biomass can be used to generate economic value. After harvesting, biomass disposal or processing is required. In the case of landfill deposition, thermal, physical, chemical, or microbiological processes can be used to reduce the volume/weight of biomass. In the case of incineration, the energy produced represents an economic opportunity, and the ash can be further processed for extraction and recovery of metals with commercial value. In bioenergy production, the biomass may be used directly as heat or processed into gases or liquids (e.g., ethanol and biodiesel). Besides bioenergy production, other potential economic products are wood, biochar, and biofortified products. Another interesting alternative comprises the usage of plant biomass as adsorbents of heavy metals for the treatment of industrial and domestic wastewater. However, these economic revenue opportunities should be analyzed carefully considering and evaluating all possible environmental and health risks.

Microbial communities are known to contribute deeply to geochemical cycles, including weathering, protection from erosion and mineral precipitation. Studies aiming to understand mining areas’ microbiomes are of high relevance since they can help pinpoint the occurrence of environmental shifts, key bioremediation species, environmental metals recovery strategies, and microorganisms with relevant industrial properties. Nonetheless, so far, the study of Portuguese gold-rich areas’ microbiomes has been largely neglected. The main goal of this study was to apply high-throughput sequencing methods to study the microbiome (Bacteria and Fungi) and predict their functional/metabolic profiles in an abandoned Portuguese gold mining area (considering zones without a history of mining, the tailings and the flooded mine interior). The results obtained revealed high bacterial and fungal diversities at these sites while also pinpointing the presence of relative homogenous bacterial and heterogenous fungal communities. Areas without mining history were mainly dominated by WD2101 soil groups, Sphingomonas, Candidatus Solibacter, Helotiales, unclassified Fungi and Arxotrichum. The tailings were mainly colonized by Bryobacter, WD2101 soil groups, WPS-2 genera, Starmerella, Helotiales and Mollisia. On the other hand, the mine area displayed a dominance of Crossiella, Gemmataceae, Acidobacteriaceae (Subgroup 1), Acidiphilium, Mortierella, unclassified Fungi and Chaetothyriales. Furthermore, we verified that contrary to bacteria, the fungal structural diversity is somewhat more restricted to each site. In addition, metabolic, functional and ecological profiles revealed a strong distinction for both bacterial and fungal communities while also revealing the presence of well-adapted communities to each of the particular microenvironments considered.

Large cities are widely recognized as major contributors to climate change due to their high energy demand and heavy reliance on on-road transportation. Urban mobility today brings additional concerns about predicted demands arising from people's necessities of living in cities and their respective needs to travel in different forms, either for personal or professional purposes. This study based on a literature review and case studies analysis proposes a framework to support the implementation of Sustainable Inland Waterway Transportation Systems as an alternative to road transport. The proposed framework is tested in São Paulo City (Brazil). In the implementation of a sustainable inland waterway transportation system, the following factors were identified as strategic: user characteristics and behaviour, operators’ characteristics and behaviour, investment in infrastructures, regulation and taxation, and Government. Infrastructure and strategic planning are areas that deserve further investigation. Research could focus on developing strategies for efficient routing, taking into account various potential limitations, water navigability, vessel capacity, traffic management, and transshipment locations. Intermodality between different transport modes is a crucial area that needs to be addressed to ensure full integration into the multimodal network. Investigating connectivity and information sharing systems between modes would enhance the overall efficiency and attractiveness of waterway transportation in the city's ecosystem. Keywords: transportation, waterway, framework, sustainability, case studies.

Industrial metal-rich sludge can improve soil properties, but it is potentially toxic to soils and adjacent aquatic systems. The soil-sludge-water interactions influence metals bioavailability over time, a phenomenon mostly regulated by the still debatable "sludge physical protection" or "sludge delayed release" hypotheses. The present study aimed to investigate: (1) whether sludge increases soil aggregate stability against slaking, (2) which hypothesis mostly regulates metal release from soils to water and (3) the ecotoxicity of the metals released during soil slaking for aquatic organisms. Under a realistic field scale, soils amended with an industrial sludge or spiked with equivalent metal solutions (of Cr, Cu, Ni, Zn) were collected over three months to test soil aggregate stability, the ecotoxicity of the slaking water and metal contents in soil and water. The "sludge physical protection" was verified for all metals, though for Cu the "sludge delayed release" hypothesis appears plausible after three months. Soil amendment with sludge did not lead to effects on the growth of the microalga Raphidocelis subcapitata, contrarily to the observed for the metal-spiked soil. Criteria regulating soils sludge-amendment management should thus include doses not hazardous to biota, and not only metal threshold levels.

Timor island is located north of Australian Continent and is one of the southeasternmost Sunda islands. In a tectonic context, is located at the collisional margin between the oceanic Banda volcanic arc and the Australian continental margin. The island does not have a volcanic nature and is made up of three main tectonostratigraphic sequences : i) Australia Affinity Sequence, that comprises units whose ages range from the Upper Carboniferous to the Late Miocene, deposited on Australian continental or transitional continental crust prior to collision with the Banda Terrane; ii) Banda Arc Terrane Sequence, that comprises the allochthonous forearc units of the Banda volcanic arc and are of Asia affinity. They span from Jurassic to Pliocene in age; iii) Banda Orogen Sequence, consisting of units that have formed or been deposited since the start of collision of the continental margin with the Banda forearc, ages spanning from upper Miocene to present. The Manamas Mountain is an elevated region located in the northeast sector of the Timor-Leste Oecusse enclave, largely built up of volcanic rocks of Late Miocene age (Manamas Formation; Banda Arc Terrane Sequence). It may represent a fragment of the Banda Arc overthrusting on the northernmost edge of the Australian continental margin. Recognition of the main structural lineament systems of the Manamas Mountain and definition of its main morphostructural characteristics to complement structural and geological mapping are the main goals of the present study, which aims to determine such aspects through interpretation of spatial remote detection digital data acquired by the Landsat satellite's sensor (ETMþ) and the Earth satellite's sensor (Aster) and aerial orthophoto maps.

Timor-Leste and Oecusse in particular have very little geological data coverage due to the many conflicts generated mainly by Portuguese colonization and Indonesian occupation. The main work that has been done was aimed at oil prospecting on the south coast. A regional stream sediment campaign was started from the Maquelab area in the Oecusse enclave, west of Timor-Leste, where no mineralization had been reported before. The geochemical characteristics of stream sediments in Maquelab area drainage basins, located in NW of Oecusse enclave, Timor-Leste, were investigated in order to establish the geochemical baseline conditions prior to any type of new mineral occurrences. Stream sediments demonstrated a different chemical composition with elevated values mainly for Cr (49-12,520 mg kg(-1)), Ni (11.6-863 mg kg(-1)) and Co (19.8-77.1 mg kg(-1)) which was not expected going by the present geological cartography of the area where the existence of ultramafic rocks is not supported. Principal component analysis (PCA) was used after centered log-ratio (CLR) transformation of data that allowed for the observance of different compositional groupings and the identification of the drainage basins they represented. Aided by the stream sediments geochemical results, a geological recognition of the area was then made, which allowed for the discovery of a new ultramafic complex, consisting of dunites, peridotites and serpentinites, containing metamorphic rocks, predominantly calc-silicate, basalts and gabbms. This complex is named the Maquelab Complex due to its proximity to this village. Inside the peridotitic rocks, small boulders of massive chromite with about 56% Cr2O3 were also found.

Introduction: Primary open-angle glaucoma is the most frequent subtype of glaucoma. Relatives of primary open-angle glaucoma patients have an increased risk of developing the disease, suggesting a genetic predisposition to the disease. MYOC was the first primary open-angle glaucoma-causing gene identified. This study aimed to identify sequence variations in the MYOC gene that may be responsible for the phenotype in a group of primary open-angle glaucoma patients from the Centre Region of Portugal. Material and Methods: The three coding exons and the proximal splicing junctions of the MYOC gene were studied using a PCRsequencing approach in a group of 99 primary open-angle glaucoma patients. Results: The sequencing analysis enabled the identification of 20 variants, including four in the promoter region, seven in the introns and nine in exons one and three, of which four were missense variants. Discussion: Initially, all four missense sequence variations identified were considered candidates to glaucoma causing disease mutations. However, after literature review, only variant c.1334C>T (Ala445Val) remained as likely responsible for mild late-onset normal tension glaucoma. Conclusion: This is the first study performed in a group of primary open-angle glaucoma patients from the Centre Region of Portugal, contributing to the identification of one genetic variant in the MYOC gene and reinforcing the hypothesis that normal tension glaucoma could be also due to MYOC gene mutations.

The intensity of chemical decomposition increases with rainfall and temperature, being extreme under equatorial climate, but in tectonically active regions it can be limited by the rapid erosion of surface material when weathering reactions are still incomplete This paper presents mineralogical and geochemical data from weathering mantles exposed on the equatorial mountainous region of Maubisse (East Timor). Two major groups of regoliths, with contrasting Si-content and associated with different parent rocks, are discriminated by non-mobile elements contents. Although partially inherited from parent rock, the geochemistry (e.g., the values obtained for multi-element weathering parameters, such as CIA, CIX, MIAo, WIP, and alpha-indices of element mobility) and diverse clay assemblages with low kaolinite contents are in general indicative of minor weathering intensities despite wet (>2000 mm of annual rainfall) and warm (annual average temperature similar to 20 degrees C) conditions. These compositional data show that weathering reactions are not keeping up with physical denudation in this tectonically active region. Weathering intensity depends on local orographic and lithologic features, being highest on basaltic terranes due to the enrichment in weatherable silicates relative to sedimentary successions. The present research demonstrates the extent to which different factors can control regolith composition in mountainous equatorial regions and how the application of multiple compositional parameters can help to untangle the roles played by those factors.

The Mussulo lagoon is a coastal environment located near Luanda, one of the SW African cities that has been growing more rapidly during the last decades. Geochemical, mineralogical, and grain-size data obtained for the lagoon sediments are analyzed together, in order to establish the factors that control the distribution of some potentially toxic elements (PTEs). Sediments from northern location tend to be enriched in feldspar and, despite some variability in grain-size distributions, in fine-grained detrital minerals; southern lagoon sediments display very homogenous grain-size distribution and are enriched in minerals associated with salt precipitation (halite and gypsum). Multivariate statistics reveal a close link between some PTEs, namely Co, Hg, Ni, and Pb, for which an anthropogenic source can be postulated. On the other end, As seems to be associated with natural authigenic precipitation in southern lagoon sectors. Sediments enriched in clay also tend to yield more Fe, Mn, Zn, and Cu, but it is unclear whether their sources are natural or anthropogenic. Hazard indexes calculated for children are higher than 1 for As and Co, indicating potential non-carcinogenic risk. For the other elements, and for adults, there is no potential carcinogenic or non-carcinogenic risk.

This study investigates the impact of Glomus mosseae on heavy metal(loid) (HM) uptake efficiency of pea (Pisum sativum L.) plants along with physiological and biochemical parameters. Plants were grown in soil spiked with HMs (Pb and As: 50 and 100 mg kg-1; Cd: 25 and 50 mg kg-1) and a multi-metal(loid) (Mm: Pb + Cd + As) combination, inoculated/non-inoculated with G. mosseae. A dose-dependent increase in HM accumulation was observed in plants upon harvest at 60 days. Plant growth, concentration of photosynthetic pigments, total nitrogen, and carbohydrates reduced, whereas enzymatic [catalase (CAT), superoxide dismutase (SOD), and ascorbate peroxidase (APX)] and non-enzymatic (proline and total phenolics) antioxidants increased upon HM stress. Inoculation with G. mosseae led to an increase in plant growth, concentration of photosynthetic pigments, carbohydrate, nitrogen, and defence antioxidants (whereas proline decreased) which was statistically significant (p ≤ 0.05). This symbiosis can be applied for onsite remediation of Pb and Cd contaminated soil by virtue of accumulation efficiency and adaptive response of pea plants inoculated with G. mosseae. Since the amount of HMs in edible parts exceeded the maximum permissible limits recommended by FAO/WHO, pea must not be cultivated in HM-contaminated soil for agricultural purpose due to associated toxicity. Novelty statement   To our knowledge, phytoremediation potential of Pea in synchronization with Glomus mosseae has not been evaluated previously. This study highlights:  • Pea-AMF symbiosis can be applied for Pb and/or Cd phytoremediation.  • Target Hazard Quotient >1 for Pb, Cd and As; caution to food chain exposure required.  • Nonenzymatic (proline, TPC) and enzymatic (CAT, SOD, APX) antioxidants play a key role in ROS detoxification.

A study was conducted to determine the effect of ethylenediaminetetraacetic acid (EDTA) on phytoextraction potential of radish and cabbage. Plant biomass, photosynthetic pigments, proline and phenolics were significantly affected by the accumulation of heavy metals (HM). The metal uptake potential was increased significantly by the application of EDTA. Target hazard quotient (THQ) associated with exposure of these contaminants to food chain was calculated. Agronomic interventions to increase mineral levels in crops often increases the leaf concentrations only, the mineral concentration in edible portions are not increased at desired level due to low mobility of Zn in phloem. Since the leaves of both these crops are edible and a component of staple vegetarian diet, biofortification through Zn present in soil and its solubilization and mobilization through chelators can be implemented. However in no such instance these crops should be consumed when grown on Pb contaminated soil due to associated hazards.

A pot study was conducted to assess the phytoremediation potential of Spinach plants along with their physiological and biochemical response when grown in soil contaminated with heavy metal(loid)s (HMs). Plants were grown under different doses of Pb, Cd and As; and their metal(loid) accumulation efficiency was studied upon harvest; expressed in terms of bioabsorption coefficient (BAC), bioconcentration factor (BCF) and translocation factor (TF). Results showed significant (p ≤ 0.05) difference in physiological and biochemical mechanisms of plants as detected through decrease in concentration of cellular constituents (pigments, carbohydrates, total nitrogen content); and increase in antioxidants (both enzymatic and non-enzymatic). Despite of accumulating high amount of HMs in tissues, no visible signs of toxicity were seen; and hence the efficient survival and defense mechanism shown by spinach plants conclude that they are a viable option to be used for phytoremediation of sites contaminated with Cd and Pb. Since the content of Cd and Pb in edible part was higher than safe limits prescribed by USEPA, the present investigation also highlights the ecological hazards that may result upon cultivation of spinach in contaminated soil for agricultural purpose; or its accidental exposure to food chain when grown for phytoremediation.

Uranium-contaminated sites are a worrying environmental issue around the world. Accordingly, several programs for the environmental remediation and rehabilitation of U-contaminated sites have been developed worldwide, in order to prevent its dispersion in the environment. This chapter highlights the U concentrations in water–soil–plant matrices and the efficiency of a heterogeneous set of native terrestrial and aquatic plant species in controlling the environmental U contamination in selected case studies. The uptake of U by plants, combined with other removal processes naturally occurring in ecosystems, constitute a form of natural attenuation of contamination. For example, from the case studies presented in this chapter, the high U accumulation patterns of some aquatic plant species, or a consistent preferential trend of U accumulation in the roots/rhizomes of terrestrial plants, confirm their potential for the phytofiltration of U-contaminated waters or for the phytostabilization of U in the soil/sediment rhizosphere, respectively.

In highly reactive, carbonate terrains that constitute more than one-fifth of critical zone landscapes, quantifying bedrock weathering processes may require understanding the realities of carbonate mineral impurity on solubility, biotically-produced minerals as an integral part of leaky biogeochemical cycles, and dust-deposited minerals as important high-surface-area, first-contact solute sources. The potential impact of these processes has not been thoroughly investigated as groundwater solutes are mostly thought to be sourced from chemical reactions with soil and bedrock, although dust is often viewed as an important delivery mechanism of nutrients to other ecosystems, including those in mountain and tropical settings. We present results of computer and hand-calculated (manual) inverse modeling of two years of stream-water chemistry, spanning a dry and a wet year, for a groundwater-fed headwater stream at the Konza Tallgrass Prairie Long-Term Ecological Research Site in northeastern Kansas. Weathering of the limestone and shale bedrock at the site provide a possible source of solutes to the groundwater-fed stream, but our modeling suggests an alternate source considering the pathway of groundwater recharge likely encounters highly reactive phases before encountering bedrock. We used the mineralogy and geochemistry of local dust collected previously, estimates of a possible chemical composition of phytolith containing potassium, and an impure calcite representing measured limestone bedrock chemistry to show that chemical reactions with the current dust flux are adequate to account for the groundwater chemistry. Average annual amounts were about: 1) 380 kg ha−1 yr−1 dust dissolved, 2) 80 kg ha−1 yr−1 bedrock carbonate dissolved, and 3) 320 kg ha−1 yr−1 phytoliths precipitated. Small amounts of cation exchange were also required to balance the models. There were only small differences between the computer and manual inverse models; both methods resulted in up to 4.6 times more mass of dust dissolved than bedrock. We suggest that dust weathering may be a process that occurs widely, considering the ubiquitous dust flux in continental regions.Solutes in groundwater and in streams fed by groundwater are thought to be mostly derived from aquifer bedrock and soil water recharging the aquifer. This paradigm may fail for landscapes that have been subaerially exposed for 10's to 100's of millions of years in terrains where relatively rapid dissolution of minerals dominates, such as carbonate-mineral dominated rocks like limestone. Here we test whether dust, having high surface area and being the first inorganic solid encountered by meteoric precipitation, could provide enough solutes water to reduce the amount of bedrock that dissolves, extending the timeframe of landscape evolution. We found, through inverse modeling with PHREEQC, that dust can provide 4.6 times as much mass to stream water in merokarst than calcite and that the mass of dust dissolved was the same order of magnitude as local dust deposition. These results give permissive evidence that dust is important to understanding groundwater chemistry.

Next-generation sequencing technology like MPS has recently been introduced to perform comprehensive chromosome screening on human trophectoderm samples for preimplantation embryo assessment. However, the potential of MPS in chromosome analysis of single cell from blastomeres has not yet been investigated.In this study, 12 couples underwent MPS analysis, including 9 balanced translocation carriers and 3 carriers of numerical chromosomal abnormalities. Cleavage-stage (Day 3) embryos (n = 105) were biopsied with one cell removal. Single cell from blastomeres was processed by whole genome amplification (WGA). WGA products were subjected to both MPS and microarray-based comparative genomic hybridization (array-CGH). Euploid embryos identified as “balanced or normal” were selected for frozen-thawed embryo transfer (FET) cycles.Reliable MPS-PGD results as well as array CGH-PGD results were obtained for 101 biopsied cleavage-stage embryos. 18.8% (19/101) embryos were identified as “euploid and balanced” by both MPS and array-CGH. 20.8% (21/101) were unbalanced for the translocation but normal for aneuploidy.26.7% (27/101) had aneuploidy and were unbalanced. 33.7% (34/101) showed normal or balanced but still had aneuploidy of chromosomes. In identifications of embryo aneuploidy and imbalance, MPS and array-CGH showed 100% consistency, with the exception of 4 samples. After transferring 12 embryos with normal or balanced for every chromosome, 1 live birth and 5 ongoing clinical pregnancies were achieved.In conclusion, as a flexible and cost-effective strategy and higher potential accuracy. MPS could be clinically applied to detect numeric abnormality of chromosome segments in day 3 preimplantation blastomeres.

In the present study, the phytoremedation potential along with growth, physiological and biochemical response of tomato (Solanum lycopersicum) was assessed under heavy metal(loid) (HM) and arbuscular mycorrhizal fungus (AMF) amendment. Effect of AMF on uptake and accumulation of metal(loid)s was assessed and accumulation characteristics were expressed in terms of bioabsorption coefficient (BAC), bioconcentration factor (BCF), translocation factor (TLF) and transfer factor (TF). Results showed that AMF-inoculated plants showed not only a better growth, chlorophyll content, strengthened non-enzymatic and enzymatic defense mechanism, but also accumulated higher concentration of metal(loid)s. The correlation between biochemical and physiological parameters was significant at 0.01 level. A significant difference (p ≤ 0.001) in antioxidant enzyme activity was found on increasing metal(loid) dose and application of AMF. The accumulation of Cd and Pb in edible part exceeded the chronic reference dose stated by USEPA. The target hazard quotient (THQ) was >1 for Cd and Pb, whereas <1 for As. The study shows that tomato has good potential as Cd and Pb phytoremediator, hence must not be consumed when grown on Cd or Pb contaminated sites.

Background. Staphylococcus infection-associated glomerulonephritis is a rare cause of graft dysfunction in kidney transplant. Suspicion should be high in the setting of elevation of serum creatinine, active urinary sediment, with or without hypocomplementemia, and simultaneous Staphylococcus aureus infection. A kidney biopsy is usually diagnostic. Case Report. A 56-year-old man, who received a kidney transplant in 1998, with basal serum creatinine of 1.2 mg/dL and normal urinary sediment, was admitted to our kidney transplantation unit with graft dysfunction and a urinary tract infection caused by S aureus with septicemia, treated with antibiotics, in the context of recently intensified immunosuppression for a primary immune thrombocytopenia diagnosed,3 weeks earlier. After antibiotic treatment, the patient persisted with graft dysfunction, edema, and hypertension, with a S aureus isolation in the urine culture, active urinary sediment, and low C3. A kidney biopsy was performed, showing diffuse proliferative endocapillary and mesangial glomerulonephritis, with IgA(++) and C3(++) mesangial and endocapillary deposits in immunofluorescence. The patient was treated symptomatically and maintained his regular immunosuppression. At the last follow-up, his serum creatinine value was stable at 2.5 mg/dL. Conclusions. The onset of a nephritic syndrome with a simultaneous S aureus infection should lead to suspicion of this uncommon entity, confirmed histologically. Despite its association with poor graft survival, our patient's graft survival remained stable.

Chronic Progressive External Ophthalmoplegia (CPEO) is characterized by ptosis and ophthalmoplegia and is usually caused by mitochondrial DNA (mtDNA) deletions or mt-tRNA mutations. The aim of the present work was to clarify the genetic defect in a patient presenting with CPEO and elucidate the underlying pathogenic mechanism. This 62-year-old female first developed ptosis of the right eye at the age of 12 and subsequently the left eye at 45 years, and was found to have external ophthalmoplegia at the age of 55 years. Histopathological abnormalities were detected in the patient’s muscle, including ragged-red fibres, a mosaic pattern of COX-deficient muscle fibres and combined deficiency of respiratory chain complexes I and IV. Genetic investigation revealed the “common deletion” in the patient’s muscle and fibroblasts. Moreover, a novel, heteroplasmic mt-tRNA variant (m.7486G>A) in the anticodon loop was detected in muscle homogenate (50%), fibroblasts (11%) and blood (4%). Single-fibre analysis showed segregation with COX-deficient fibres for both genetic alterations. Assembly defects of mtDNA-encoded complexes were demonstrated in fibroblasts. Functional analyses showed significant bioenergetic dysfunction, reduction in respiration rate and ATP production and mitochondrial depolarization. Multilamellar bodies were detected by electron microscopy, suggesting disturbance in autophagy. In conclusion, we report a CPEO patient with two possible genetic origins, both segregating with biochemical and histochemical defect. The “common mtDNA deletion” is the most likely cause, yet the potential pathogenic effect of a novel mt-tRNA variant cannot be fully excluded. © 2017 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY license (http://creativecommons.org/licenses/ by/4.0/).

Uranium mining is an environmental concern because of runoff and the potential for toxic effects on the biota. To investigate uranium toxicity to freshwater invertebrates, we conducted a 96-h acute toxicity test to determine lethal concentrations (testing concentrations up to 262 mg L-1) for three stream invertebrates: a shredder caddisfly, Schizopelex festiva Rambur (Trichoptera, Sericostomatidae); a detritivorous isopod, Proasellus sp. (Isopoda, Asellidae); and a scraper gastropod, Theodoxus fluviatilis (Gastropoda, Neritidae). Next, we ran a chronic-toxicity test with the most tolerant species (S. festiva) to assess if uranium concentrations found in some local streams (up to 25 mu g L-1) affect feeding, growth and respiration rates. Finally, we investigated whether S. festiva takes up uranium from the water and/or from ingested food. In the acute test, S. festiva survived in all uranium concentrations tested. LC50-96-h for Proasellus sp and T. fluviatilis were 142 mg L-1 and 24 mg L-1, respectively. Specimens of S. festiva exposed to 25 mu g L-1 had 47% reduced growth compared with specimens under control conditions (21.5 +/- 2.9 vs. 40.6 +/- 4.9 mu g of mass increase animal(-1).day(-1)). Respiration rates (0.40 +/- 0.03 mu g O-2.h(-1) mg animal(-1)) and consumption rates (0.54 +/- 0.05 mu g mu g animal(-1).clay(-1); means +/- SE) did not differ between treatments. Under laboratory conditions S. festiva accumulated uranium from both the water and the ingested food. Our results indicate that uranium can be less toxic than other metals or metalloids produced by mining activities. However, even at the low concentrations observed in streams affected by abandoned mines, uranium can impair physiological processes, is bioaccumulated, and is potentially transferred through food webs. (C) 2018 Elsevier Ltd. All rights reserved.