Progress on Copper-Based Anode Materials for Sodium-Ion Batteries.

Fossil fuels have clearly failed to meet people's growing energy needs due to their limited reserves, potential pollution of the environment, and high costs. The development of cleaner, renewable energy sources as well as secondary batteries for energy storage is imminent, in a modern society where energy demand is soaring. Sodium-ion batteries (SIBs) have become the focus of large-scale energy storage systems as a promising alternative to lithium-ion batteries. The development of SIBs relies on the construction of high performance electrode materials. The design of low cost and high performance anode materials is a key link in this regard. Copper-based anodes are characterised by high theoretical capacity, abundant reserves, low cost and environmental friendliness. A variety of copper-based anode materials, which include cobalt oxides, sulfides, selenides and phosphides, have been synthesised and evaluated in the scientific literature for sodium storage. In detail, the preparation methods, response mechanisms, strengths and weaknesses, the relationship between morphology structure and electrochemical performance are discussed, as well as highlighting strategies to improve the  electrochemical performance of copper-based anode materials. Finally, we offer our perspective on the challenges and potential for the development of copper-based anodes as a means of developing practical and high performing SIBs.

Protective effects of pulsed electromagnetic field therapy attenuates autophagy and apoptosis in osteoporotic osteoarthritis model rats by activating PPARγ.

Osteoporotic osteoarthritis (OPOA) is a specific phenotype of OA with high incidence and severe cartilage damage. This study aimed to explore the protective efficacy of PEMF on the progression of OPOA and observed the effects of PEMF on PPARγ, autophagy- and apoptosis-related proteins in OPOA rats. Rats were randomly divided into three groups: control group, OPOA group, and PEMF group (n = 6). One week after surgery, the rats in PEMF group were subjected to PEMF (3.82 mT, 8 Hz, 40 min/day and 5 day/week) for 12 weeks. Results showed that PEMF retarded cartilage degeneration and bone loss, as evidenced by pathological staining image, decreased MMP-13 expression and increased bone mineral density. PEMF inhibited the serum levels of inflammatory cytokines, and the expressions of caspase-3 and caspase-8, while upregulated the expression of PPARγ. Moreover, PEMF significantly improved the autophagy disorders, represented by decrease expressions of Beclin-1, P62, and LC3B. The research demonstrates that PEMF can effectively prevent cartilage and subchondral bone destruction in OPOA rats. The potential mechanism may be related to upregulation of PPARγ, inhibition of chondrocyte apoptosis and inflammation, and improvement of autophagy disorder. PEMF therapy thus shows promising application prospects in the treatment of postmenopausal OA.

Osteoporotic osteoarthritis (OPOA) is a very common combination disease, that characterized by chronic pain, swollen joints and susceptibility to fractures. It is particularly common in postmenopausal women. At present, drug therapy is the main treatment method, but the adverse reactions are serious and can not stop the progression of the disease. PEMF is a safe physical therapy that has been shown to increase bone density, reduce pain, and improve joints mobility. In this study, we aimed to explore the protective effect and potential mechanism of PEMF on OPOA. We found that PEMF significantly inhibited the inflammatory response, ameliorated the damaged cartilage and subchondral bone in OPOA rats, that maybe related to the regulation of chondrocyte autophagy and apoptosis. This study provided a new vision for PEMF' treatment on OPOA and has positive significance for the clinical promotion of PEMF.

The Frequency of Common Deafness-Associated Variants Among 3,555,336 Newborns in China and 141,456 Individuals Across Seven Populations Worldwide.

OBJECTIVES: Genetic screening can benefit early detection and intervention for hearing loss. The frequency of common deafness-associated variants in general populations is highly important for genetic screening and genetic counseling tailored to different ethnic backgrounds. We aimed to analyze the frequency of common deafness-associated variants in a large population-based Chinese newborn cohort and to explore the population-specific features in diverse populations worldwide. DESIGN: This population-based cohort study analyzed the frequency of common deafness-associated variants in 3,555,336 newborns in the Chinese Newborn Concurrent Hearing and Genetic Screening cohort. Participants were newborn infants born between January 2007 and September 2020. Limited genetic screening for 20 variants in 4 common deafness-associated genes and newborn hearing screening were offered concurrently to all newborns in the Chinese Newborn Concurrent Hearing and Genetic Screening cohort. Sequence information of 141,456 individuals was also analyzed from seven ethnic populations from the Genome Aggregation Database for 20 common deafness-related variants. Statistical analysis was performed using R. RESULTS: A total of 3,555,326 Chinese neonates completed the Newborn Concurrent Hearing and Genetic Screening were included for analysis. We reported the distinct landscape of common deafness-associated variants in this large population-based cohort. We found that the carrier frequencies of GJB2 , SLC26A4 , GJB3 , and MT-RNR were 2.53%, 2.05%, 0.37%, and 0.25%, respectively. Furthermore, GJB2 c.235delC was the most common variant with an allele frequency of 0.99% in the Chinese newborn population. We also demonstrated nine East-Asia-enriched variants, one Ashkenazi Jewish-enriched variant, and one European/American-enriched variant for hearing loss. CONCLUSIONS: We showed the distinct landscape of common deafness-associated variants in the Chinese newborn population and provided insights into population-specific features in diverse populations. These data can serve as a powerful resource for otolaryngologists and clinical geneticists to inform population-adjusted genetic screening programs for hearing loss.

Treadmill training mitigates bone deterioration via inhibiting NLRP3/Caspase1/IL-1ß signaling in aged rats.

INTRODUCTION: Although aerobic physical exercise may improve osteoporosis during ageing, the underlying mechanism of the favorable effects remains unclear. The aim of this study was to examine the localized and generalized proinflammatory indicators and the adaptive skeletal responses to treadmill training in aged rats to explore the potential mechanisms by which treadmill training impacts bone deterioration in a natural aged rat model. MATERIALS AND METHODS: A total of 24 Sprague Dawley (SD) rats were included in this study. Sixteen of all these animals were twenty-four months natural aged male SD rats, which were distributed into two groups (n = 8/group): AC group with sham treadmill training, and AT group with 8 weeks treadmill training. The remaining 8 were six months male SD rats matched subline and supplier, which were used as the adult control group with sham treadmill training (YC group, n = 8). The serum, bone marrow, fresh femur, tibia, and lumbar spine were harvested for molecular biological analysis, bone mineral density (BMD) testing, and micro-CT analysis after 8 weeks of treadmill training. RESULTS: After 8 weeks of intervention, the results showed that treadmill training increased BMD and inhibited deterioration of bone microarchitecture of hind limb bones. Further analysis showed that treadmill training increased serum P1CP concentration and decreased serum CTX-1level. Interestingly, treadmill training down-regulated the protein expressions of proinflammatory indicators, including NLRP3, proCaspase1, cleaved Caspase1, IL-1ß, and GSDMD-N, and the mRNA levels of NLRP3, Caspase1, and IL-1ß of the bone marrow. In addition, treadmill training also inhibited serum TNF-α and IL-1ß concentration. However, 8 weeks of treadmill training did not increase BMD and bone microarchitecture in the lumbar spine. CONCLUSION: Treadmill training mitigates the ageing-induced bone loss and reverses the deterioration of bone microarchitecture in hind limbs probably through inhibiting NLRP3/Caspase1/IL-1ß signaling to attenuate low-grade inflammation and improve the inflammatory bone microenvironment.

Effect of the Pulsed Electromagnetic Field Treatment in a Rat Model of Senile Osteoporosis In Vivo.

This study assessed the effects of pulsed electromagnetic fields (PEMF) in a rat model of senile osteoporosis and the underlying molecular events. 24-month-old male Sprague-Dawley (SD) rats were randomly divided into control and PEMF groups (n = 8 per group) using a random digit table, while 3-month-old male SD rats were set as the young-age control group. Rats in the PEMF group were treated by PEMF for 40 min/day for 5 days/week. Bone mineral density/microarchitecture, level of serum bone-specific alkaline phosphatase (BALP), tartrate-resistant acid phosphatase 5b (TRACP5b), and Wnt/ß-catenin signaling genes in rat bone marrow cells were then analyzed. The 12-week PEMF intervention showed a significant effect on inhibition of age-induced bone density loss and deterioration of trabecular bone structures in the PEMF group rats versus control rats, that is, the treatment enhanced bone mineral density of the proximal femoral metaphysis and the fifth lumbar (L5) vertebral body and improved the proximal tibia and L4 vertebral body parameters using bone histomorphometry analysis. Furthermore, the BALP level in the bones was significantly increased, but the TRACP5b level was reduced in the PEMF group of rats versus control rats. PEMF also dramatically upregulated expression of Wnt3a, LRP5, ß-catenin, and Runx2 but downregulated PPAR-γ expression in the aged rats. The results demonstrated that PEMF could prevent bone loss and architectural deterioration due to the improvement of bone marrow mesenchymal stromal cell differentiation and proliferation abilities and activating the Wnt signaling pathway. Future clinical studies are needed to validate these findings. © 2022 Bioelectromagnetics Society.

[Y chromosome-related genetic diseases].

As a male-specific chromosome, the structure of Y chromosome is complex and lacks of recombination, with numerous repeating, amplifying and palindromic sequences. The research of Y chromosome is difficult and slow since there are few protein coding genes and a large amount of heterochromatin which has caused extreme difficulty for sequencing. In recent years, an increasing number of studies have been focused on the Y chromosome. With the completion of the sequencing of human Y chromosome, the rapid development of sequencing technology, and the composition of DNA sequences in human Y chromosomes and the determination of gene content. This paper has summarized the structural composition and genes function of human Y chromosome, as well as the related hereditary diseases, with an aim to provide reference for Y chromosome-related genetic research.

Novel de novo interstitial deletion in 2q36.1q36.3 causes syndromic hearing loss and further delineation of the 2q36 deletion syndrome.

Background: Deletions of the interstitial 2q36 are uncommon and associated with varying phenotypes. However, the list of currently known phenotypes is still far complete for an understanding of the interstitial 2q36 deletion syndrome characteristics. Aims/Objectives: To identify the genetic and clinical characterization of a 6-year-old male patient suffering from a severe form of syndromic hearing loss, with brachydactyly family history. Material and Methods: We performed conventional cytogenetic analysis on the peripheral blood lymphocytes and whole exome sequencing and SNP array analysis on DNA samples from the family. Results: The proband showed signs such as bilateral sensorineural deafness, ocular hypertelorism, flat facial profile and several decayed teeth, slightly ulnar deviation of the hands, single transverse palmar crease, short stature and intellectual disability. Through cytogenetic and molecular genetic analysis, we discovered that the syndromic hearing loss was the result of a de novo 5.175-Mb microdeletion at chromosome 2q36.1q36.3 whose breakpoints had been precisely mapped by us. Conclusions and Significance: Our study warns that auditory assessment should be evaluated even if the patient with 2q36 deletion syndrome is not obviously presenting hearing loss. In addition, a comprehensive molecular genetics diagnosis involving multiple methods is important to support accurate genetic characterization of this syndrome.

Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss.

BACKGROUND: MYO15A variants are responsible for human non-syndromic autosomal recessive deafness (DFNB3). The majority of MYO15A variants are associated with a congenital severe-to-profound hearing loss phenotype, except for MYO15A variants in exon 2, which cause a milder auditory phenotype, suggesting a genotype-phenotype correlation of MYO15A. However, MYO15A variants not in exon 2 related to a milder phenotype have also been reported, indicating that the genotype-phenotype correlation of MYO15A is complicated. This study aimed to provide more cases of MYO15A variation with diverse phenotypes to analyse this complex correlation. METHODS: Fifteen Chinese autosomal recessive non-syndromic hearing loss (ARNSHL) individuals with MYO15A variants (8 males and 7 females) from 14 unrelated families, identified by targeted gene capture of 127 known candidate deafness genes, were recruited. Additionally, we conducted a review of the literature to further analyses all reported MYO15A genotype-phenotype relationships worldwide. RESULTS: We identified 16 novel variants and 12 reported pathogenic MYO15A variants in 15 patients, two of which presented with a milder phenotype. Interestingly, one of these cases carried two reported pathogenic variants in exon 2, while the other carried two novel variants not in exon 2. Based on our literature review, MYO15A genotype-phenotype correlation analysis showed that almost all domains were reported to be correlated with a milder phenotype. However, variants in the N-terminal domain were more likely to cause a milder phenotype. Using next-generation sequencing (NGS), we also found that the number of known MYO15A variants with milder phenotypes in Southeast Asia has increased in recent years. CONCLUSION: Our work extended the MYO15A variant spectrum, enriched our knowledge of auditory phenotypes, and tried to explore the genotype-phenotype correlation in different populations in order to investigate the cause of the complex MYO15A genotype-phenotype correlation.

Phenotype prediction of Mohr-Tranebjaerg syndrome (MTS) by genetic analysis and initial auditory neuropathy.

BACKGROUND: Mohr-Tranebjaerg syndrome (MTS) is a rare X-linked recessive neurodegenerative disorder resulting in early-onset hearing impairment, gradual dystonia and optic atrophy. MTS is caused by variations in the nuclear TIMM8A gene, which is involved in mitochondrial transport of metabolites. This study aimed to identify the pathogenic gene variations in three Chinese families associated with predicted MTS with or without X-linked agammaglobulinaemia. METHODS: Otologic examinations, vestibular, neurological, optical and other clinical evaluations were conducted on the family members. Targeted genes capture combining next generation sequencing (NGS) was performed, and then Sanger sequencing was used to confirm the causative variation. RESULTS: A novel variation, c.232_233insCAAT, in TIMM8A was identified as the pathogenic variation in one Chinese family. This variation co-segregated with the most frequent phenotypic deafness and was absent in the 1000 Genomes Project, ExAC and 1751 ethnicity-matched controls. Clinically, otological examinations illustrated the typical postsynaptic auditory neuropathy for the proband without the symptoms of dystonia or optic atrophy. MRI demonstrated abnormal small cochlear symmetric nerves, while the vestibular function appeared to be less influenced. Furthermore, we found another two TIMM8A variations, the deletion c.133_135delGAG and a copy number variation (CNV) including the TIMM8A gene, in two independent case, when we performed NGS on an auditory neuropathy population. CONCLUSION: We identified two novel variations in the TIMM8A gene (c.232_233insCAAT and c.133_135delGAG) and a CNV including the TIMM8A gene in three independent Chinese families with predicted MTS. To our knowledge, this is the first report of TIMM8A variations being identified in a Chinese population. Our results enrich the variation spectrum of TIMM8A and clinical heterogeneity of MTS. Genetic detection and diagnosis is a powerful tool for better understanding and managing syndromic hearing impairments, such as MTS, before they become full-blown.

Overexpression of the iron transporter NtPIC1 in tobacco mediates tolerance to cadmium.

KEY MESSAGE: Overexpression of the iron transporter NtPIC1 increases iron concentration in shoots and reduces Cd uptake/accumulation in plants, mediating tolerance to cadmium. Cadmium (Cd) is toxic to plant cells and causes plants to display a typical iron (Fe) deficiency phenotype. NtPIC1 (Permease In Chloroplast1) is an Fe transporter protein in tobacco, required for Fe homeostasis. Based on preliminary results in transformed Saccharomyces cerevisiae BY4741 cells, which showed that NtPIC1 expression increased Cd tolerance, this study evaluated Cd tolerance in tobacco plants overexpressing NtPIC1 (NtPIC1-OE). We show that these plants have longer roots and higher fresh weights than wild-type (WT) plants after Cd exposure. Under Cd stress, WT plants display more chlorosis, stronger growth inhibition, and lower chlorophyll concentrations than NtPIC1-OE plants. Importantly, NtPIC1-OE plants had higher Fe concentrations in shoots and lower Fe concentrations in roots, and Cd concentrations in NtPIC1-OE plants were significantly lower compared to those in WT plants. Moreover, Fe transport-related genes (NtPIC1, NtNRAMP1, and NtFER1) were upregulated in NtPIC1-OE plants, while Fe deficiency-related genes (NtFRO1, NtIRT1, and NtZIP1) that mediate Cd uptake were downregulated. We also found that the activities of several antioxidative enzymes were significantly higher in NtPIC1-OE plants than in WT plants under Cd stress. Overall, our results demonstrate that overexpression of NtPIC1 is an efficient way to increase shoot Fe concentrations and reduce Cd uptake/accumulation in plants.