Global research landscape on the contribution of de novo mutations to human genetic diseases over the past 20 years: bibliometric analysis.

As the contribution of de novo mutations (DNMs) to human genetic diseases has been gradually uncovered, analyzing the global research landscape over the past 20 years is essential. Because of the large and rapidly increasing number of publications in this field, understanding the current landscape of the contribution of DNMs in the human genome to genetic diseases remains a challenge. Bibliometric analysis provides an approach for visualizing these studies using information in published records in a specific field. This study aimed to illustrate the current global research status and explore trends in the field of DNMs underlying genetic diseases. Bibliometric analyses were performed using the Bibliometrix Package based on the R language version 4.1.3 and CiteSpace version 6.1.R2 software for publications from 2000 to 2021 indexed under the Web of Science Core Collection (WoSCC) about DNMs underlying genetic diseases on 17 September 2022. We identified 3435 records, which were published in 731 journals by 26,538 authors from 6052 institutes in 66 countries. There was an upward trend in the number of publications since 2013. The USA, China, and Germany contributed the majority of the records included. The University of Washington, Columbia University, and Baylor College of Medicine were the top-producing institutions. Evan E Eichler of the University of Washington, Stephan J Sanders of the Yale University School of Medicine, and Ingrid E Scheffer of the University of Melbourne were the most high-ranked authors. Keyword co-occurrence analysis suggested that DNMs in neurodevelopmental disorders and intellectual disabilities were research hotspots and trends. In conclusion, our data show that DNMs have a significant effect on human genetic diseases, with a noticeable increase in annual publications over the last 5 years. Furthermore, potential hotspots are shifting toward understanding the causative role and clinical interpretation of newly identified or low-frequency DNMs observed in patients.

Revisiting Drug-Protein Interaction Prediction: A Novel Global-Local Perspective.

MOTIVATION: Accurate inference of potential Drug-protein interactions (DPIs) aids in understanding drug mechanisms and developing novel treatments. Existing deep learning models, however, struggle with accurate node representation in DPI prediction, limiting their performance. RESULTS: We propose a new computational framework that integrates global and local features of nodes in the drug-protein bipartite graph for efficient DPI inference. Initially, we employ pre-trained models to acquire fundamental knowledge of drugs and proteins and to determine their initial features. Subsequently, the MinHash and HyperLogLog algorithms are utilized to estimate the similarity and set cardinality between drug and protein subgraphs, serving as their local features. Then, an energy-constrained diffusion mechanism is integrated into the transformer architecture, capturing interdependencies between nodes in the drug-protein bipartite graph and extracting their global features. Finally, we fuse the local and global features of nodes and employ multi-layer perceptrons (MLPs) to predict the likelihood of potential DPIs. A comprehensive and precise node representation guarantees efficient prediction of unknown DPIs by the model. Various experiments validate the accuracy and reliability of our model, with molecular docking results revealing its capability to identify potential DPIs not present in existing databases. This approach are expected to offer valuable insights for furthering drug repurposing and personalized medicine research. AVAILABILITY AND IMPLEMENTATION: Our code and data are accessible at: https://github.com/ZZCrazy00/DPI. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

Clinical and genetic architecture of a large cohort with auditory neuropathy.

Auditory neuropathy (AN) is a unique type of language developmental disorder, with no precise rate of genetic contribution that has been deciphered in a large cohort. In a retrospective cohort of 311 patients with AN, pathogenic and likely pathogenic variants of 23 genes were identified in 98 patients (31.5% in 311 patients), and 14 genes were mutated in two or more patients. Among subgroups of patients with AN, the prevalence of pathogenic and likely pathogenic variants was 54.4% and 56.2% in trios and families, while 22.9% in the cases with proband-only; 45.7% and 25.6% in the infant and non-infant group; and 33.7% and 0% in the bilateral and unilateral AN cases. Most of the OTOF gene (96.6%, 28/29) could only be identified in the infant group, while the AIFM1 gene could only be identified in the non-infant group; other genes such as ATP1A3 and OPA1 were identified in both infant and non-infant groups. In conclusion, genes distribution of AN, with the most common genes being OTOF and AIFM1, is totally different from other sensorineural hearing loss. The subgroups with different onset ages showed different genetic spectrums, so did bilateral and unilateral groups and sporadic and familial or trio groups.

Nonlinear differential equations and their application to evaluating the integrated impacts of multiple parameters on the biochemical safety of drinking water.

The present study aimed to narrow such gaps by applying nonlinear differential equations to biostability in drinking water. Biostability results from the integrated dynamics of nutrients and disinfectants. The linear dynamics of biostability have been well studied, while there remain knowledge gaps concerning nonlinear effects. The nonlinear effects are explained by phase plots for specific scenarios in a drinking water system, including continuous nutrient release, flush exchange with the adjacent environment, periodic pulse disinfection, and periodic biofilm development. The main conclusions are, (1) The correlations between the microbial community and nutrients go through phases of linear, nonlinear, and chaotic dynamics. Disinfection breaks the chaotic phase and returns the system to the linear phase, increasing the microbial growth potential. (2) Post-disinfection after multiple microbial peaks produced via metabolism can increase disinfection efficiency and decrease the risks associated with disinfectant byproduct risks. This can provide guidelines for optimizing the disinfection strategy, according to the long-term water safety target or a short management. Limited disinfection and ultimate disinfection may be more effective and have low chemical risk, facing longer stagnant conditions. (3) Periodic biofilm formation and biofilm detachment increase the possibility of uncertainty in the chaotic phase. For future study, nonlinear differential equation models can accordingly be applied at the molecular and ecological levels to further explore more nonlinear regulation mechanisms.

Clinical Application and Curative Effect Analysis of Postural Awareness Surgical Tool Assisted Nail Placement in Adolescent Idiopathic Scoliosis.

OBJECTIVE: The pedicle screw technique has been widely used in adolescent idiopathic scoliosis orthopedic surgery, but misplacement of screws may damage important structures such as blood vessels and nerves around the pedicle, resulting in serious consequences. Therefore, our research team has independently developed a surgical tool to assist in the placement of pedicle screws. This study aims to investigate the safety and accuracy of postural awareness tool assisted nail placement in orthopedic surgery for adolescent idiopathic scoliosis. METHOD: A retrospective analysis was performed on 24 adolescent patients with idiopathic scoliosis admitted to our hospital from July 2019 to July 2022, including 10 males and 14 females, with an average age of 14.88 ± 2.36 years (10-19 years). The mean follow-up was 15.67 ± 2.20 months (12-20 months). We divided the patients into postural awareness group (n = 12) and C-arm group (n = 12) according to whether the postural awareness surgical tool was used during the operation. All patients were treated with posterior spinal orthopedic surgery. The postural awareness group was assisted by pedicle screw placement with a postural awareness surgical tool, while the C-arm group was given a pedicle screw placement with freehand technique. The operative time, intraoperative blood loss, intraoperative fluoroscopy times, nail placement related complications, nail placement accuracy, and scoliosis correction rate were recorded and compared between the two groups. RESULTS: The operative time, intraoperative blood loss and fluoroscopy times in the postural awareness group were significantly lower than those in the C-arm group, with statistical significance (p < 0.05). The postural awareness group implanted 163 screws with an accuracy rate of 91.41%, while the C-arm group implanted 159 screws with an accuracy rate of 83.02%. The accuracy rate of screw placement in the postural awareness group was higher than that in the C-arm group, with a statistically significant difference (p = 0.024). According to the imaging of the patients, there was no significant difference between the Cobb Angle of the main bend measured at three time points before surgery, 1 week after surgery and the last follow-up between the two groups. Similarly, there was no significant difference in the rate of lateral curvature correction between the two groups. CONCLUSION: The application of postural awareness surgical tool in posterior orthopedic surgery for adolescent idiopathic scoliosis can improve screw placement accuracy, shorten screw placement time, and make auxiliary screw placement safer and more accurate.

[A case of sudden hearing loss combined with familial hyperlipidemia].

Hyperlipidemia is characterized by elevated levels of blood lipids. The clinical manifestations are mainly atherosclerosis caused by the deposition of lipids in the vascular endothelium. The link between abnormal lipid metabolism and sudden hearing loss remains unclear. This article presents a case study of sudden hearing loss accompanied by familial hyperlipidemia. Pure tone audiometry indicated intermediate frequency hearing loss in one ear. Laboratory tests showed abnormal lipid metabolism, and genetic examination identified a heterozygous mutation in theAPOA5 gene. Diagnosis: Sudden hearing loss; hypercholesterolemia. The patient responded well to pharmacological treatment. This paper aims to analyze and discuss thepotential connection between abnormal lipid metabolism and sudden hearing loss.

The Clinical and Imaging Outcome of the Tandem Growing Rod Technique in Early-Onset Scoliosis With the Proximal Upper Thoracic Curve Progression: A Modified Technique of Growing Rod.

STUDY DESIGN: Retrospective cohort study. OBJECTIVE: The orthopaedic ability of traditional GR for severe EOS is limited. The proximal upper thoracic curve may progress during the lengthening procedure, which may lead to coronal imbalance and inhibit the longitudinal growth of the spine. In this retrospective cohort study, we investigated the clinical outcome of tandem GR. METHODS: We modified the traditional technique by using two groups of GR devices to control the major and the proximal upper thoracic curve, connected the two groups of GR in series, and named it tandem GR. The clinical and imaging outcomes of the new technique were evaluated and compared with traditional technique. RESULTS: Twenty one patients were enrolled in the tandem GR group, and 30 patients were treated with traditional GR as the control. The baseline parameters were consistent between the two groups. In the tandem GR group, the secondary curve progressed from 24.9 ± 3.9° to 31.4 ± 3.2° (P = .006) in the procedure with the traditional GR and improved to 18.4 ± 4.5° (P = .001) after the switch. Meanwhile, the clavicular angle aggravated from 1.6 ± 1.0° to 2.6 ± .7° (P = .041), and improved to 1.7 ± .8° after changed to the tandem GR (P = .033). At the final of the follow-up, the secondary curve was higher in the control group (27.1 ± 8.3° vs 18.4 ± 4.5°, P = .034), the clavicle angle was 2.4 ± 1.1° in control and 1.7 ± .8° in the tandem GR group (P = .028), the T1-S1 height was 28.2 ± 4.8 cm in the control and 33.3 ± 3.0 cm in the tandem GR group (P = .027). The average growth rate was 1.0 ± .3 cm/year in the control and 1.2 ± .4 cm/year in the tandem GR group (P = .046). CONCLUSION: Tandem GR can effectively improve the proximal upper thoracic curve progression during the treatment of EOS. Compared with the traditional GR, tandem GR can achieve better curve correction, better shoulder balance, and retains more capacity for longitudinal spine growth.

Targeting the PHF8/YY1 axis suppresses cancer cell growth through modulation of ROS.

High levels of mitochondrial reactive oxygen species (mROS) are linked to cancer development, which is tightly controlled by the electron transport chain (ETC). However, the epigenetic mechanisms governing ETC gene transcription to drive mROS production and cancer cell growth remain to be fully characterized. Here, we report that protein demethylase PHF8 is overexpressed in many types of cancers, including colon and lung cancer, and is negatively correlated with ETC gene expression. While it is well known to demethylate histones to activate transcription, PHF8 demethylates transcription factor YY1, functioning as a co-repressor for a large set of nuclear-coded ETC genes to drive mROS production and cancer development. In addition to genetically ablating PHF8, pharmacologically targeting PHF8 with a specific chemical inhibitor, iPHF8, is potent in regulating YY1 methylation, ETC gene transcription, mROS production, and cell growth in colon and lung cancer cells. iPHF8 exhibits potency and safety in suppressing tumor growth in cell-line- and patient-derived xenografts in vivo. Our data uncover a key epigenetic mechanism underlying ETC gene transcriptional regulation, demonstrating that targeting the PHF8/YY1 axis has great potential to treat cancers.

Carbon-Atom Exchange between [MC2]+ (M = Os and Ir) and Methane: on the Thermodynamic and Dynamic Aspects.

Gas-phase reactions of [OsC2]+ and [IrC2]+ with methane at ambient temperature have been studied using quadrupole-ion trap mass spectrometry combined with quantum chemical calculations. Both [OsC2]+ and [IrC2]+ undergo carbon-atom exchange reactions with methane. The associated mechanisms for the two systems are found to be similar. The differences in the rates of carbon isotope exchange reactions of methane with [MC2]+ (M = Os and Ir) are explained by several factors like the energy barrier for the initial H3C-H bond breaking processes, the molecular dynamics, orbital interactions, and the H-binding energies of the pivotal steps. Besides, the number of participating valence orbitals might be one of the keys to regulate the rate in the key step. The present findings may provide useful ideas and inspiration for designing similar processes.

Natural History of KCNQ4 p.G285S Related Hearing Loss, Construction of iPSC and Mouse Model.

OBJECTIVE: KCNQ4 is one of the most common disease-causing genes involved in autosomal dominant non-syndromic hearing loss. We previously found that patients with KCNQ4 p.G285S exhibited a much more rapid deterioration in hearing loss than those with other KCNQ4 variants. To determine the rate of hearing loss and assess the disease for further analysis, we performed a long-term follow-up of these patients and generated patient-derived induced pluripotent stem cells (iPSCs), and a mouse model. METHODS: Patients with KCNQ4 p.G285S from a five-generation family with hearing loss were followed up from 2005 to 2022. iPSCs were generated by stimulating peripheral blood mononuclear cells from the proband, and their pluripotency was determined. The Kcnq4 p.G286S mouse model was generated using CRISPR/Cas9, and its genotype and phenotype were identified. RESULTS: (1) The annual rates of hearing loss at the frequencies of speech were 0.96 dB for the proband and 0.87 dB for his father during the follow-up period, which were faster than patients with other KCNQ4 variants. (2) The patient-derived iPSC line carrying KCNQ4 p.G285S, possessed the capacity of differentiation and pluripotency capacities. (3) Mutant mice with Kcnq4 p.G286S exhibited hearing loss and outer hair cell loss at 1 month of age. CONCLUSION: Patients with KCNQ4 p.G285S variant exhibited significantly accelerated progression of hearing loss compared to those with other reported variants. Awareness of the natural history of hearing loss associated with KCNQ4 p.G285S is beneficial for genetic counseling and prognosis. The generation of the iPSCs and mouse model can provide a valuable foundation for further in-depth analyses. LEVEL OF EVIDENCE: 4 Laryngoscope, 2023.

On the performance of the M-C (M = Fe, Ru, Os) unit toward methane activation.

Gas-phase reactions of [MC]+ (M = Os and Ru) with methane at ambient temperature have been studied by using quadrupole-ion trap (Q-IT) mass spectrometry combined with quantum chemical calculations. Theoretical calculations reveal the influence of electronic signatures and that it is the energy gap of the associated frontier molecular orbitals that dominates the ability of the cluster in the initial H3C-H bond breaking. By extension, a theoretical consideration upon changing the ligand from carbide to carbyne and eventually to carbene reveals that the reactivities of the M-complex (M = Os, Ru and Fe) are determined by the energy gap of the involved orbitals. In addition, a few factors like the dipole moment, spin density and charge distributions influence the orbital energy gap to different extents. Thus, altering the local structure of the active center to modulate the orbital distribution may be a possible means of regulation of the activity.

An Effective Plant Small Secretory Peptide Recognition Model Based on Feature Correction Strategy.

Plant small secretory peptides (SSPs) play an important role in the regulation of biological processes in plants. Accurately predicting SSPs enables efficient exploration of their functions. Traditional experimental verification methods are very reliable and accurate, but they require expensive equipment and a lot of time. The method of machine learning speeds up the prediction process of SSPs, but the instability of feature extraction will also lead to further limitations of this type of method. Therefore, this paper proposes a new feature-correction-based model for SSP recognition in plants, abbreviated as SE-SSP. The model mainly includes the following three advantages: First, the use of transformer encoders can better reveal implicit features. Second, design a feature correction module suitable for sequences, named 2-D SENET, to adaptively adjust the features to obtain a more robust feature representation. Third, stack multiple linear modules to further dig out the deep information on the sample. At the same time, the training based on a contrastive learning strategy can alleviate the problem of sparse samples. We construct experiments on publicly available data sets, and the results verify that our model shows an excellent performance. The proposed model can be used as a convenient and effective SSP prediction tool in the future. Our data and code are publicly available at https://github.com/wrab12/SE-SSP/.

Effect of psoralen on the regulation of osteogenic differentiation induced by periodontal stem cell-derived exosomes.

Periodontitis is a chronic inflammatory disease that is the main cause of tooth loss in adults, and the key to periodontitis treatment is the repair and regenerate of periodontal bone tissue. Psoralen is the main component of the Psoralea corylifolia Linn, which shows antibacterial, anti-inflammatoryand osteogenic activities. It promotes the differentiation of periodontal ligament stem cells toward osteogenesis. Exosomes secreted by stem cells play important roles in information transmission during the osteogenic differentiation process. The aim of this paper was to investigate the role of psoralen in regulating osteogenic miRNA information in periodontal stem cells and in periodontal stem cells exosomes and the specific mechanism of its action. Experimental results show that exosomes of human periodontal ligament stem cell origin treated with psoralen (hPDLSCs + Pso-Exos) were not significantly different from untreated exosomes (hPDLSC-Exos) in terms of size and morphology. Thirty-five differentially expressed miRNAs were found to be upregulated and 58 differentially expressed miRNAs were found to be downregulated in the hPDLSCs + Pso-Exos compared to the hPDLSC-Exos (P < 0.05). hsa-miR-125b-5p was associated with osteogenic differentiation. Among them, hsa-miR-125b-5p was associated with osteogenic differentiation. After hsa-miR-125b-5p was inhibited, the osteogenesis level of hPDLSCs was enhanced. In summary, the osteogenic differentiation of hPDLSCs was promoted by psoralen through the downregulation of hsa-miR-125b-5p gene expression in hPDLSCs, and the expression of the hsa-miR-125b-5p gene was also downregulated in exosomes. This finding provides a new therapeutic idea for using psoralen to promote periodontal tissue regeneration.

Reduction of byproduct formation and cytotoxicity to mammalian cells during post-chlorination by the combined pretreatment of ferrate(VI) and biochar.

Ferrate [Fe(VI)] can efficiently degrade various pollutants in wastewater. Biochar application can reduce resource use and waste emission. This study investigated the performance of Fe(VI)/biochar pretreatment to reduce disinfection byproducts (DBPs) and cytotoxicity to mammalian cells of wastewater during post-chlorination. Fe(VI)/biochar was more effective at inhibiting the cytotoxicity formation than Fe(VI) alone, reducing the cytotoxicity from 12.7 to 7.6 mg-phenol/L. The concentrations of total organic chlorine and total organic bromine decreased from 277 to 130 µg/L and from 51 to 39 µg/L, compared to the samples without pretreatment. Orbitrap ultra-high resolution mass spectrometry revealed that the number of molecules of DBPs decreased substantially from 517 to 229 by Fe(VI)/biochar, with the greatest reduction for phenols and highly unsaturated aliphatic compounds. In combination with the substantial reduction of 1Cl-DBPs and 2Cl-DBPs, 1Br-DBPs and 2Br-DBPs were also reduced. Fluorescence excitation-emission matrix coupled with parallel factor analysis suggested that fulvic acid-like substances and aromatic amino acid was obviously reduce likely due to the enhanced oxidation of Fe(IV)/Fe(V) produced by Fe(VI)/biochar and adsorption of biochar. Furthermore, the DBPs generated by electrophilic addition and electrophilic substitution of precursors were reduced. This study shows that Fe(VI)/biochar pretreatment can effectively reduce cytotoxicity formation during post-chlorination by transforming DBPs and their precursors.

Methane Activation by [OsC3]+: Implications for Catalyst Design.

Gas-phase reactions of [OsC3]+ with methane at ambient temperature have been studied by using quadrupole-ion trap mass spectrometry combined with quantum chemical calculations. The comparison of [OsC3]+ with the product clusters revealed significant changes in cluster reactivity. In particular, with different ligands, the cluster may produce multiple products or, alternatively, just a single product. Theoretical calculations reveal the influence of electronic features such as molecular polarity index, charge and spin distribution, and HOMO-LUMO gap on the reactivity of the Os complexes. Fundamentally, it is the polarity of the clusters that leads to the cluster reactivity in the methane activation. Furthermore, reducing the local polarity of the catalyst active site may be one means of reducing the number of byproducts in the reaction.

Osteogenesis promotion by injectable methacryloylated gelatin containing psoralen and its bacteriostatic properties.

The treatment of periodontitis focuses on controlling the progression of inflammation, reducing plaque accumulation, and promoting bone tissue reconstruction. Among them, the reconstruction of irregular bone resorption caused by periodontitis is a long-standing challenge. At present, the local drug treatment of periodontitis is mainly anti-inflammatory and antibacterial drugs. In this study, psoralen (Pso), a Chinese herbal medicine with anti-inflammatory, antibacterial, and osteogenic effects, was selected for the local treatment of periodontitis. Meanwhile, an injectable methacrylate gelatin (GelMA) platform loading with Pso was constructed. Pso-GelMA had the properties of fluidity, light cohesion, self-healing, and slow release, which could be better used in the deep and narrow structure of the periodontal pocket, and greatly increased the effectiveness of local drug delivery. The pore size of Gelma hydrogel did not change after loading Pso by SEM. In vitro, Pso-GelMA effectively upregulated the expression of osteogenic genes and proteins, increased alkaline phosphatase activity, promoted the mineralisation of rat bone marrow mesenchymal stem cells (BMSCs) extracellular matrix, and had significant antibacterial effects on Staphylococcus aureus and Fusobacterium nucleatum. Therefore, Pso-GelMA has immense promise in the adjuvant treatment of periodontitis.

Current immune therapeutic strategies in advanced or metastatic non-small cell lung cancer.

ABSTRACT: Immune escape mechanisms in non-small cell lung cancer (NSCLC) can disrupt every step of the anti-cancer immune response. In recent years, an increased understanding of the specific mechanisms fueling immune escape has allowed for the development of numerous immunotherapeutic treatments that have been introduced into the clinical practice. The advent of immunotherapy has dramatically changed the current treatment landscape of advanced or metastatic NSCLC because of its durable efficacy and manageable toxicity. In this review, we will first present a brief overview of recent evidence on immune escape mechanisms in NSCLC. We will then discuss the current promising immunotherapeutic strategies in advanced or metastatic NSCLC tumors.

Global burden and trends of lung cancer incidence and mortality.

BACKGROUND: Lung cancer has been the leading cause of cancer-related deaths worldwide for many years. This study aimed to investigate the global patterns and trends of lung cancer. METHODS: Lung cancer incidence and mortality were derived from the GLOBOCAN 2020 database. Continuous data from Cancer Incidence in Five Continents Time Trends were used to analyze the temporal trends from 2000 to 2012 using Joinpoint regression, and average annual percent changes were calculated. The association between the Human Development Index and lung cancer incidence and mortality was assessed by linear regression. RESULTS: An estimated 2.2 million new lung cancer cases and 1.8 million lung cancer-related deaths occurred in 2020. The age-standardized incidence rate (ASIR) ranged from 36.8 per 100,000 in Demark to 5.9 per 100,000 in Mexico. The age-standardized mortality rate (ASMR) varied from 32.8 per 100,000 in Poland to 4.9 per 100,000 in Mexico. Both ASIR and ASMR were approximately twice higher in men than in women. The ASIR of lung cancer showed a downward trend in the United States of America (USA) between 2000 and 2012, and was more prominent in men. The age-specific incidence rates of lung cancer for ages of 50 to 59 years showed an upward trend in China for both men and women. CONCLUSIONS: The burden of lung cancer is still unsatisfactory, especially in developing countries like China. Considering the effectiveness of tobacco control and screening in developed countries, such as the USA, there is a need to strengthen health education, accelerate the establishment of tobacco control policies and regulations, and improve early cancer screening awareness to reduce the future burden of lung cancer.

Tracing the Century-Long Evolution of Microplastics Deposition in a Cold Seep.

Microplastic (MP) pollution is one of the greatest threats to marine ecosystems. Cold seeps are characterized by methane-rich fluid seepage fueling one of the richest ecosystems on the seafloor, and there are approximately more than 900 cold seeps globally. While the long-term evolution of MPs in cold seeps remains unclear. Here, how MPs have been deposited in the Haima cold seep since the invention of plastics is demonstrated. It is found that the burial rates of MPs in the non-seepage areas significantly increased since the massive global use of plastics in the 1930s, nevertheless, the burial rates and abundance of MPs in the methane seepage areas are much lower than the non-seepage area of the cold seep, suggesting the degradation potential of MPs in cold seeps. More MP-degrading microorganism populations and functional genes are discovered in methane seepage areas to support this discovery. It is further investigated that the upwelling fluid seepage facilitated the fragmentation and degradation behaviors of MPs. Risk assessment indicated that long-term transport and transformation of MPs in the deeper sediments can reduce the potential environmental and ecological risks. The findings illuminated the need to determine fundamental strategies for sustainable marine plastic pollution mitigation in the natural deep-sea environments.

Systematic Review of Published Cases of Primary Epithelioid Sarcoma of the Spine.

BACKGROUND Epithelioid sarcoma is rare, represents less than 1% of all sarcomas, usually occurs in the extremities, and rarely presents as a primary sarcoma of the spine. Publications are usually single reports or case series. We aimed to undertake a systematic review of publications of cases of primary epithelioid sarcoma of the spine to evaluate clinical presentation, diagnosis, management, and patient outcomes. MATERIAL AND METHODS We searched studies on spinal epithelioid sarcoma in the PubMed database. Only studies with secondary epithelioid sarcoma or without effective data for analysis were excluded. Cases in which epithelioid sarcoma first invaded other sites and then affected the spine were also excluded. RESULTS Twenty-three patients from 13 studies were included in the study, aged between 14 and 65 years, and the sex ratio of female to male was 1: 2.29. The survival time was 18.7±13.8 months. The survival time of males was longer than that of females (22.9±14.4 vs 9.0±4.6, P=0.027). The onset age was linearly correlated with the size of the lesion (size=-0.161*age+11.841).The lesions located in lumbar vertebra had the worst prognosis. Postoperative radiotherapy had a statistically significant effect on survival time (P=0.040). CONCLUSIONS This systematic review identified 23 published cases of primary epithelioid sarcoma of the spine. Pain was the main presenting symptom, and tumor size increased with patient age. Female sex and primary location in the lumbar spine were associated with poor survival. Although surgery was the first-line treatment, postoperative radiotherapy and chemotherapy may improve clinical outcomes.