Clinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay.

BACKGROUND: Autosomal recessive spastic ataxia ofCharlevoix-Saguenay (ARSACS) is a rare neurodegenerative disorder characterizedby early-onset cerebellar ataxia, peripheral sensorimotor neuropathy, and lowerlimb spasticity. We present clinical andgenetic data of the first Bulgarian patients diagnosed with ARSACS by wholeexome sequencing (WES). METHODS: Variant filtering was performed usinglocally established pipeline and the selected variants were analysed by Sangersequencing. All patients underwent clinical examination and testingincluding the standard rating scales for spastic paraplegia and ataxia. RESULTS: Five different SACS gene variants, three of which novel, have been identified inpatients from three different ethnic groups. In addition to the classicalclinical triad, brain MRI revealed cerebellar atrophy, linear pontineT2-hypointensities, and hyperintense rim lateral tothalamus combined with retinal nerve fiber layer thickening on opticcoherence tomography (OCT). CONCLUSION: We expand the mutation, geographic, and phenotypic spectrum of ARSACS, adding Bulgaria to the world map of the disease, and drawing attention to the fact that it is still misdiagnosed. We demonstrated that brain MRI and OCT are necessary clinical tests for ARSACS diagnosis, even if one of the cardinal clinical features is lacking.

Tri-site Synergistic Cu(I)/Cu(II)─N Single-Atom Catalysts for Additive-Free CO2 Conversion.

As the highly stable and abundant carbon source in nature, the activation and conversion of CO2 into high-value chemicals is highly desirable yet challenging. The development of Cu(I)/Cu(II)─N tri-site synergistic single-atom catalysts (TS-SACs) with remarkable CO2 activation and conversion performance is presented, eliminating the need for external additives in cascade reactions. Under mild conditions (40 °C, atmospheric CO2), the catalyst achieves high yields (up to 99%) of valuable 2-oxazolidinones from CO2 and propargylamine. Notably, the catalyst demonstrates easy recovery, short reaction times, and excellent tolerance toward various functional groups. Supported by operando techniques and density functional theory calculations, it is elucidated that the spatially proximal Cu(I)/Cu(II)─N sites facilitate the coupling of multiple chemical transformations. This surpasses the performance of supported isolated Cu(I) or Cu(II) catalysts and traditional organic base-assisted cascade processes. These Cu(I)/Cu(II)─N tri-site synergistic atom active sites not only enable the co-activation of CO2 at the Cu(II)─N pair and alkyne at the Cu(I) site but also induce a di-metal locking geometric effect that accelerates the ring closure of cyclic carbamate intermediates. The work overcomes the limitations of single metal sites and paves the way for designing multisite catalysts for CO2 activation, especially for consecutive activation, tandem, or cascade reactions.

Spatial and Seasonal Changes in Microbial Community of Hynobius amjiensis Breeding Pools in a Sphagnum-Dominated Peatland.

Peatlands deliver a variety of beneficial ecosystem services, particularly serving as habitats for a diverse array of species. Hynobius amjiensis is a critically endangered amphibian initially discovered in a Sphagnum-dominated peatland in Anji, China. The unique habitat requirements of H. amjiensis make it highly vulnerable to environmental changes. Here, we investigated the different breeding pools of H. amjiensis in the Sphagnum-dominated peatland (the type locality) for a one-year period to evaluate the interactions among the egg sacs present, water quality, and microbial communities (16S and 18S rRNA gene amplicon). The numbers of egg sacs were higher in the breeding pools located at the marginal area than those at the core area of the peatland. Similarly, the α-diversity of bacteria, fungi, and protists were lower in the core region compared to those at the edge of the peatland, perhaps due to water eutrophication. The microbial communities and water quality differed significantly among breeding pools and sampling months. The simpler microbial networks of the breeding pools in the core wetland may impact the numbers and health of the egg sacs. This study contributes to a better understanding of the effect of water quality on biodiversity in peatlands, and it can also guide regulations for wetland conservation and the protection of endangered species.

Proteomics and lipidomic analysis reveal dysregulated pathways associated with loss of sacsin.

Introduction: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare incurable neurodegenerative disease caused by mutations in the SACS gene, which codes for sacsin, a large protein involved in protein homeostasis, mitochondrial function, cytoskeletal dynamics, autophagy, cell adhesion and vesicle trafficking. However, the pathogenic mechanisms underlying sacsin dysfunction are still largely uncharacterized, and so attempts to develop therapies are still in the early stages. Methods: To achieve further understanding of how processes are altered by loss of sacsin, we used untargeted proteomics to compare protein profiles in ARSACS fibroblasts versus controls. Results: Our analyses confirmed the involvement of known biological pathways and also implicated calcium and lipid homeostasis in ARSACS skin fibroblasts, a finding further verified in SH-SY5Y SACS -/- cells. Validation through mass spectrometry-based analysis and comparative quantification of lipids by LC-MS in fibroblasts revealed increased levels of ceramides coupled with a reduction of diacylglycerols. Discussion: In addition to confirming aberrant Ca2+ homeostasis in ARSACS, this study described abnormal lipid levels associated with loss of sacsin.

Microfibers in the Diet of a Highly Aerial Bird, the Common Swift Apus apus.

Microplastic pollution is a pervasive global issue affecting various ecosystems. Despite the escalating production and well-documented contamination in both aquatic and terrestrial environments, the research focused on airborne microplastics and their interaction with terrestrial birds remains limited. In this study, we collected fecal sacs from Common swifts (Apus apus) to investigate their diet and to evaluate the potential ingestion of microplastics by both adults and nestlings. The diet was mainly composed of Hymenoptera and Coleoptera and did not differ among sexes and age classes. The 33% of nestlings' and 52% of adults' fecal sacs contained anthropogenic items, the totality of which was in the shape form of fibers. The 19.4% of the anthropogenic items were chemically characterized as microplastics, either polyethylene terephthalate (PET; two microfibers) or cellophane (four microfibers). Airborne anthropogenic items, including microplastic, might be passively ingested during the Common swift aerial feeding. In addition, our findings suggest that these ingested microparticles have the potential to be transferred to the offspring through food. While further research is essential to elucidate the pathways of microplastic ingestion, our results reinforce the evidence of the transfer of anthropogenic items from the atmosphere to the biota.

Compound Heterozygous Mutations of SACS in a Korean Cohort Study of Charcot-Marie-Tooth Disease Concurrent Cerebellar Ataxia and Spasticity.

Mutations in the SACS gene are associated with autosomal recessive spastic ataxia of Charlevoix-Saguenay disease (ARSACS) or complex clinical phenotypes of Charcot-Marie-Tooth disease (CMT). This study aimed to identify SACS mutations in a Korean CMT cohort with cerebellar ataxia and spasticity by whole exome sequencing (WES). As a result, eight pathogenic SACS mutations in four families were identified as the underlying causes of these complex phenotypes. The prevalence of CMT families with SACS mutations was determined to be 0.3%. All the patients showed sensory, motor, and gait disturbances with increased deep tendon reflexes. Lower limb magnetic resonance imaging (MRI) was performed in four patients and all had fatty replacements. Of note, they all had similar fatty infiltrations between the proximal and distal lower limb muscles, different from the neuromuscular imaging feature in most CMT patients without SACS mutations who had distal dominant fatty involvement. Therefore, these findings were considered a characteristic feature in CMT patients with SACS mutations. Although further studies with more cases are needed, our results highlight lower extremity MRI findings in CMT patients with SACS mutations and broaden the clinical spectrum. We suggest screening for SACS in recessive CMT patients with complex phenotypes of ataxia and spasticity.

Sulfur Modified Carbon-Based Single-Atom Catalysts for Electrocatalytic Reactions.

Efficient and sustainable energy development is a powerful tool for addressing the energy and environmental crises. Single-atom catalysts (SACs) have received high attention for their extremely high atom utilization efficiency and excellent catalytic activity, and have broad application prospects in energy development and chemical production. M-N4 is an active center model with clear catalytic activity, but its catalytic properties such as catalytic activity, selectivity, and durability need to be further improved. Adjustment of the coordination environment of the central metal by incorporating heteroatoms (e.g., sulfur) is an effective and feasible modification method. This paper describes the precise synthetic methods for introducing sulfur atoms into M-N4 and controlling whether they are directly coordinated with the central metal to form a specific coordination configuration, the application of sulfur-doped carbon-based single-atom catalysts in electrocatalytic reactions such as ORR, CO2RR, HER, OER, and other electrocatalytic reaction are systematically reviewed. Meanwhile, the effect of the tuning of the electronic structure and ligand configuration parameters of the active center due to doped sulfur atoms with the improvement of catalytic performance is introduced by combining different characterization and testing methods. Finally, several opinions on development of sulfur-doped carbon-based SACs are put forward.

Strong interactions through the highly polar "Early-Late" metal-metal bonds enable single-atom catalysts good durability and superior bifunctional ORR/OER activity.

Simultaneously enhancing the durability and catalytic performance of metal-nitrogen-carbon (M-Nx-C) single-atom catalysts is critical to boost oxygen electrocatalysis for energy conversion and storage, yet it remains a grand challenge. Herein, through the combination of early and late metals, we proposed to enhance the stability and tune the catalytic activity of M-Nx-C SACs in oxygen electrocatalysis by their strong interaction with the M2'C-type MXene substrate. Our density functional theory (DFT) computations revealed that the strong interaction between "early-late" metal-metal bonds significantly improves thermal and electrochemical stability. Due to considerable charge transfer and shift of the d-band center, the electronic properties of these SACs can be extensively modified, thereby optimizing their adsorption strength with oxygenated intermediates and achieving eight promising bifunctional catalysts for ORR/OER with low overpotentials. More importantly, the constant-potential analysis demonstrated the excellent bifunctional activity of SACs supported on MXene substrate across a broad pH range, especially in strongly alkaline media with record-low overpotentials. Further machine learning analysis shows that the d-band center, the charge of the active site, and the work function of the formed heterojunctions are critical to revealing the ORR/OER activity origin. Our results underscore the vast potential of strong interactions between different metal species in enhancing the durability and catalytic performance of SACs.

Enhanced Activity and Selectivity for Nitrogen Reduction Reaction in Electrides-Based Heterostructures: A DFT Computational Study.

Developing sustainable and efficient catalysts for ammonia synthesis from atmospheric molecular N2 under ambient conditions presents a significant 21st-century challenge. Two-dimensional heterostructures, particularly single-atom catalysts (SACs) supported on two-dimensional materials, have emerged as a promising avenue due to their remarkable catalytic activity and selectivity. Electrides, characterized by an abundance of free electrons and high surface activity, have attracted substantial attention in this context. Through density functional theory (DFT) calculations, this study proposes electride-graphene heterostructures (EGHS) as catalysts to effectively regulate charge distribution at the catalytic center, facilitating the optimization of catalytic performance. The EGHS model addresses challenges related to excessive adsorbate binding, mitigating electron transfer compared to electride monolayer adsorption. This novel approach utilizes heterogeneous heterostructures to finely tune the catalytic site, optimizing electron input for enhanced catalysis. Based on the optimized charge transfer for N2 activation, the Cr-doped EGHS (Cr@EGHS) exhibits a promising performance in the nitrogen reduction reaction, leading to, a relatively low limiting potential of -0.85 V and high selectivity. The hypothesis charge transfer depend on N2 activation is further supported by modulating the distance between component layers of heterostructure. These findings contribute to design principles for 2D heterostructure catalysts and offer a reference for experimental synthesis.

Iron-carbon dots embedded in molybdenum single-atom nanoflowers as multifunctional nanozyme for dual-mode detection of hydrogen peroxide and uric acid.

Single-atom catalysts (SACs) have attracted extensive attention in the field of catalysis due to their excellent catalytic ability and enhanced atomic utilization, but the multi-mode single-atom nanozymes for biosensors remain a challenging issue. In this work, iron-doped carbon dots (Fe CDs) were loaded onto the edges and pores of Mo SACs with nanoflower morphology; accordingly, a composite material Fe CDs/Mo SACs was prepared successfully, which improves the catalytic performance and develops a fluorescence mode without changing the original morphology. The steady-state kinetic data indicates that the material prepared have better affinity for substrates and faster reaction rates under optimized conditions. The specific kinetic parameters Km and Vmax were calculated as 0.39 mM and 7.502×10-7 M·s-1 respectively. The excellent peroxidase-like activity of Fe CDs/Mo SACs allows H2O2 to decompose into •OH, which in turn oxidizes colorless o-phenylenediamine (OPD) to yellow 2,3-diaminophenazine (DAP). At the same time, the fluorescence signal of Fe CDs/Mo SACs quenches obviously by DAP at 460 nm through internal filtration effect (IFE), while the characteristic fluorescence response of DAP gradually increases at 590 nm. Based on this sensing mechanism, a sensitive and accurate dual-mode (colorimetric and ratiometric fluorescent) sensor was constructed to detect H2O2 and uric acid, and the rate of recovery and linearity were acceptable for the detection of UA in human serum and urine samples. This method provides a new strategy for rapid and sensitive detection of UA, and also broadens the development of SACs in the field of biosensors.

Symmetry Evolution Induced 2D Pt Single Atom Catalyst with High Density for Alkaline Hydrogen Oxidation.

The performance of single-atom catalysts is greatly influenced by the chemical environment surrounding the central atom. Here, a salt-assisted method is employed to transform the tetrahedral coordination structure of zeolitic imidazolate frameworks - 8 (ZIF-8) into a planar square coordination structure without altering the ligands. During the subsequent carbonization process, concurrent with the evaporation of zinc atoms, the structure of the nitrogen and carbon carriers (NC carriers) undergoes a transition from five-membered rings to six-membered rings to preserve the 2D structure. This transition results in the generation of additional defect sites on the 2D-NC substrates. Hence, the Pt single-atom catalysts with planar square coordination symmetries can be precisely prepared via electrodeposition (denoted as 2D-Pt SAC). The Pt loading of 2D-Pt SAC is 0.49 ± 0.03 µg cm-2, higher than that of 3D-Pt SAC (0.37 ± 0.04 µg cm-2). In the context of the hydrogen oxidation reaction electrocatalysis, under an overpotential of 50 mV, these single-atom catalysts with 2D coordination exhibit mass activities of 2396 A gPt -1 (32 times higher than commercial Pt/C catalyst, 2 times higher than 3D-PtNC).

Understanding the role of transition metal single-atom electronic structure in oxysulfur radical-mediated oxidative degradation.

The ubiquity of refractory organic matter in aquatic environments necessitates innovative removal strategies. Sulfate radical-based advanced oxidation has emerged as an attractive solution, offering high selectivity, enduring efficacy, and anti-interference ability. Among many technologies, sulfite activation, leveraging its cost-effectiveness and lower toxicity compared to conventional persulfates, stands out. Yet, the activation process often relies on transition metals, suffering from low atom utilization. Here we introduce a series of single-atom catalysts (SACs) employing transition metals on g-C3N4 substrates, effectively activating sulfite for acetaminophen degradation. We highlight the superior performance of Fe/CN, which demonstrates a degradation rate constant significantly surpassing those of Ni/CN and Cu/CN. Our investigation into the electronic and spin polarization characteristics of these catalysts reveals their critical role in catalytic efficiency, with oxysulfur radical-mediated reactions predominating. Notably, under visible light, the catalytic activity is enhanced, attributed to an increased generation of oxysulfur radicals and a strengthened electron donation-back donation dynamic. The proximity of Fe/CN's d-band center to the Fermi level, alongside its high spin polarization, is shown to improve sulfite adsorption and reduce the HOMO-LUMO gap, thereby accelerating photo-assisted sulfite activation. This work advances the understanding of SACs in environmental applications and lays the groundwork for future water treatment technologies.

Electrical impedance tomography in anaesthetised chickens (Gallus domesticus).

The applicability of electrical impedance tomography (EIT) in birds is unknown. This study aimed to evaluate the use of EIT in anaesthetised chickens in four recumbency positions. Four adult Hyline chickens were anaesthetised with isoflurane in oxygen, and intubated endotracheally for computed tomography (CT). A rubber belt was placed around the coelom caudal to the shoulder joint. A chicken-specific finite element (FE) model, which is essential to generate anatomically accurate functional EIT images for analysis, was constructed based on the CT images obtained at the belt level. Ten additional chickens were anaesthetised with the same protocol. An EIT electrode belt was placed at the same location. The chickens were breathing spontaneously and positioned in dorsal, ventral, right and left lateral recumbency in a randomised order. For each recumbency, raw EIT data were collected over 2 min after 13 min of stabilisation. The data were reconstructed into functional EIT images. EIT variables including tidal impedance variation (TIV), centre of ventilation right to left (CoVRL) and ventral to dorsal (CoVVD), right to left (RL) ratio, impedance change (ΔZ) and eight regional impedance changes including the dorsal, central-dorsal, central-ventral and ventral regions of the right and left regions were analysed. Four breathing patterns (BrP) were observed and categorised based on the expiratory curve. A linear mixed model was used to compare EIT variables between recumbencies. Fisher's exact test was used to compare the frequencies of breathing patterns for each recumbency. The ΔZ observed was synchronous to ventilation, and represented tidal volume of the cranial air sacs as confirmed by CT. Significant differences were found in CoVVD and regional impedance changes between dorsal and ventral recumbencies (P < 0.05), and in CoVRL, RL ratio and regional impedance changes between right and left recumbencies (P < 0.05), which suggested a tendency for the distribution of ventilation to shift towards non-dependent air sacs. No differences were found for TIV and respiratory rate between recumbencies. Recumbency had a significant effect on the frequencies of each of the four BrPs (P = 0.001). EIT can monitor the magnitude and distribution of ventilation of the cranial air sacs in different recumbencies in anaesthetised chickens.

Axially Coordinated Gold Nanoclusters Tailoring Fe-N-C Nanozymes for Enhanced Oxidase-Like Specificity and Activity.

Metal-organic frameworks (MOF) derived nitrogen-doped carbon-supported monodisperse Fe (Fe-N-C) catalysts are intensively studied, but great challenges remain in understanding the relationship between the coordination structure and the performance of Fe-N-C nanozymes. Herein, a novel nanocluster ligand-bridging strategy is proposed for constructing Fe-S1 N4 structures with axially coordinated S and Au nanoclusters on ZIF-8 derived Fe-N-C (labeled Aux /Fe-S1 N4 -C). The axial Au nanoclusters facilitate electron transfer to Fe active sites, utilizing the bridging ligand S as a medium, thereby enhancing the oxygen adsorption capacity of composite nanozymes. Compared to Fe-N-C, Aux /Fe-S1 N4 -C exhibits high oxidase-like specificity and activity, and holds great potential for detecting acetylcholinesterase activity with a detection limit of 5.1 µU mL-1 , surpassing most reported nanozymes.

Contemporary advances in photocatalytic CO2 reduction using single-atom catalysts supported on carbon-based materials.

The persistent issue of CO2 emissions and their subsequent impact on the Earth's atmosphere can be effectively addressed through the utilization of efficient photocatalysts. Employing a sustainable carbon cycle via photocatalysis presents a promising technology for simultaneously managing the greenhouse effect and the energy dilemma. However, the efficiency of energy conversion encounters limitations due to inadequate carrier utilization and a deficiency of reactive sites. Single-atom catalysts (SACs) have demonstrated exceptional performance in efficiently addressing the aforementioned challenges. This review article commences with an overview of SAC types, structures, fundamentals, synthesis strategies, and characterizations, providing a logical foundation for the design and properties of SACs based on the correlation between their structure and efficiency. Additionally, we delve into the general mechanism and the role of SACs in photocatalytic CO2 reduction. Furthermore, we furnish a comprehensive survey of the latest advancements in SACs concerning their capacity to enhance efficiency, long-term stability, and selectivity in CO2 reduction. Carbon-structured support materials such as covalent organic frameworks (COFs), graphitic carbon nitride (g-C3N4), metal-organic frameworks (MOFs), covalent triazine frameworks (CTFs), and graphene-based photocatalysts have garnered significant attention due to their substantial surface area, superior conductivity, and chemical stability. These carbon-based materials are frequently chosen as support matrices for anchoring single metal atoms, thereby enhancing catalytic activity and selectivity. The motivation behind this review article lies in evaluating recent developments in photocatalytic CO2 reduction employing SACs supported on carbon substrates. In conclusion, we highlight critical issues associated with SACs, potential prospects in photocatalytic CO2 reduction, and existing challenges. This review article is dedicated to providing a comprehensive and organized compilation of recent research findings on carbon support materials for SACs in photocatalytic CO2 reduction, with a specific focus on materials that are environmentally friendly, readily accessible, cost-effective, and exceptionally efficient. This work offers a critical assessment and serves as a systematic reference for the development of SACs supported on MOFs, COFs, g-C3N4, graphene, and CTFs support materials to enhance photocatalytic CO2 conversion.

Single and double transition metal atoms doped graphdiyne for highly efficient electrocatalytic reduction of nitric oxide to ammonia.

The electrocatalytic conversion of nitric oxide (NORR) to ammonia (NH3) represents a pivotal approach for sustainable energy transformation and efficient waste utilization. Designing highly effective catalysts to facilitate the conversion of NO into NH3 remains a formidable challenge. In this work, the density functional theory (DFT) is used to design NORR catalysts based on single and double transition metal (TM:Fe, Co, Ni and Cu) atoms supported by graphdiyne (TM@GDY). Among eight catalysts, the Cu2@GDY is selected as a the most stable NORR catalyst with high NH3 activity and selectivity. A pivotal discovery underscores that the NORR mechanism is thermodynamically constrained on single atom catalysts (SACs), while being governed by electrochemical processes on double atom catalysts (DACs), a distinction arising from the different d-band centers of these catalysts. Therefore, this work not only introduces an efficient NORR catalyst but also provides crucial insights into the fundamental parameters influencing NORR performance.

Review of Theoretical and Computational Studies of Bulk and Single Atom Catalysts for H2 S Catalytic Conversion.

Catalytic conversion of hydrogen sulfide (H2 S) plays a vital role in environmental protection and safety production. In this review, recent theoretical advances for catalytic conversion of H2 S are systemically summarized. Firstly, different mechanisms of catalytic conversion of H2 S are elucidated. Secondly, theoretical studies of catalytic conversion of H2 S on surfaces of metals, metal compounds, and single-atom catalysts (SACs) are systematically reviewed. In the meantime, various strategies which have been adopted to improve the catalytic performance of catalysts in the catalytic conversion of H2 S are also reviewed, mainly including facet morphology control, doped heteroatoms, metal deposition, and defective engineering. Finally, new directions of catalytic conversion of H2 S are proposed and potential strategies to further promote conversion of H2 S are also suggested: including SACs, double atom catalysts (DACs), single cluster catalysts (SCCs), frustrated Lewis pairs (FLPs), etc. The present comprehensive review can provide an insight for the future development of new catalysts for the catalytic conversion of H2 S.

A Novel Mutation in Sacsin, p.Val1335IIe, May Cause Late-Onset Sacsinopathy Due to Haploinsufficiency.

Autosomal recessive spastic ataxia in Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder caused by mutations in the sacsin molecular chaperone protein (SACS) gene. Since the first report from Quebec in 1978, many pathogenic ARSACS variants with significantly reduced chaperone activities have been reported worldwide in adolescents, with presumably altered protein folding. In this study, a novel SACS mutation (p.Val1335IIe, Heterozygous) was identified in a Korean patient in their 50s with late-onset ARSACS characterized by cerebellar ataxia and spasticity without peripheral neuropathy. The mutation was confirmed via whole exome sequencing and Sanger sequencing and was predicted to likely cause disease using prediction software. RT-PCR and ELISA showed decreased SACS mRNA expression and sacsin protein concentrations in the proband, supporting its implications in diseases with pathogenicity and reduced chaperone function from haploinsufficiency. Our results revealed the pathogenicity of the SACS Val1335IIe mutation in the proband patient's disease manifestation, even though the symptoms had a limited correlation with the typical ARSACS clinical triad, which could be due to the reduced chaperon function from haploinsufficiency. Furthermore, our study suggests that variants of SACS heterozygosity may have diverse symptoms, with a wide range of disease onsets for late-onset sacsinopathy.

Why are adults exposed to liquid laundry detergent capsules?

INTRODUCTION: Exposures to liquid laundry detergent capsules in adults are less well characterized than in children. METHODS: All enquiries to the Centro Antiveleni di Milano regarding adults (>18 years) who were exposed to these capsules between July 2010 and July 2023 were analyzed. Enquiries were followed up with one or more recalls depending on the severity of the patient. RESULTS: Over the study period, 127 adults were exposed. The age distribution was as follows: 34 patients were aged 18-39 years, 29 were 40-59 years, 24 were 60-79 years, 26 were 80-96 years, and the age was unknown in 14. Exposure occurred mainly as a result of ingestion alone (n = 54), skin contact alone (n = 23), and eye contact alone (n = 31). Oral exposure without swallowing occurred in nine cases, and inhalation of the odour from a disintegrated capsule in four. Multiple routes of exposure were involved in six patients. Thirty-four (63 per cent) of the 54 ingestions occurred in those with dementia or intellectual disability, and three patients in this group died. Dermal or eye exposures did not involve those with dementia. CONCLUSIONS: These data show that the majority of adults in Italy who ingest liquid laundry detergent capsules are suffering from dementia or other cognitive impairment.

Molecular physiology for the increase of soluble sugar accumulation in citrus fruits under drought stress.

To investigate the mechanism for drought promoting soluble sugar accumulation will be conducive to the enhancement of citrus fruit quality as well as stress tolerance. Fruit sucrose mainly derives from source leaves. Its accumulation in citrus fruit cell vacuole involves in two processes of unloading in the fruit segment membrane (SM) and translocating to the vacuole of fruit juice sacs (JS). Here, transcript levels of 47 sugar metabolism- and transport-related genes were compared in fruit SM or JS between drought and control treatments. Results indicated that transcript levels of cell wall invertase genes (CwINV2/6) and sucrose synthase genes (SUS2/6) in the SM were significantly increased by the drought. Moreover, transcript levels of SWEET genes (CsSWEET1/2/4/5/9) and monosaccharide transporter gene (CsPMT3) were significantly increased in SM under drought treatment. On the other hand, SUS1/3 and vacuolar invertase (VINV) transcript levels were significantly increased in JS by drought; CsPMT4, sucrose transporter gene 2 (CsSUT2), tonoplast monosaccharide transporter gene 2 (CsTMT2), sugar transport protein gene 1 (CsSTP1), two citrus type I V-PPase genes (CsVPP1, and CsVPP2) were also significantly increased in drought treated JS. Collectively, the imposition of drought stress resulted in more soluble sugar accumulation through enhancing sucrose download by enhancing sink strength- and transport ability-related genes, such as CwINV2/6, SUS2/6, CsSWEET1/2/4/5/9, and CsPMT3, in fruit SM, and soluble sugar storage ability by increasing transcript levels of genes, such as CsPMT4, VINV, CsSUT2, CsTMT2, CsSTP1, CsVPP1, and CsVPP2, in fruit JS.