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Preimplantation genetic diagnosis (PGD) uses molecular biological techniques to genetically diagnose embryos before in vitro fertilization. The information obtained through PGD can help clinicians select healthy embryos for implantation, prevent the transmission of inherited diseases and help affected families have healthy children. This paper reviews the development of PGD technology, the history of its application to hereditary hearing loss, and the general process of how PGD is applied to screen for hereditary hearing loss. The aim of this review is to demonstrate the reliability of PGD in the primary prevention of hereditary hearing loss, assist clinicians in counseling patients at risk of transmitting an inherited disease, and explore the journey from PGD to in vitro fertilization. Given that the application of PGD technology to hereditary hearing loss varies in different countries and regions, there is still a long way to go before PGD is routinely applied for the primary prevention of hereditary hearing loss.

Objective: To compare the clinical and radiological outcomes of minimally invasive transforaminal lumbar interbody fusion (MIS-TLIF) and traditional open transforaminal lumbar interbody fusion (OPEN-TLIF) in the treatment of two-level lumbar degenerative diseases. Methods: The clinical data of 112 patients were retrospectively analyzed, and were divided into an MIS-TLIF group and OPEN-TLIF group. The operative time, intraoperative fluoroscopy, blood loss, postoperative drainage volume, bed rest time, the content of creatine kinase(CK) and complications, were recorded. VAS score and ODI index were used to evaluate clinical efficacy. Bridwell grading was used to evaluate postoperative interbody fusion. Screw position was evaluated by Rao grading. Results: Compared with the OPEN-TLIF group, the MIS-TLIF group had longer operation times, more intraoperative fluoroscopy times, but shorter postoperative bed times (p < 0.05). There were no significant differences in blood loss, postoperative drainage and postoperative CK content between the two groups (p > 0.05). There was no difference in VAS score and ODI index during the follow-up (p > 0.05). There was no significant difference in the interbody fusion rate between the two groups (p > 0.05). There was no significant difference in the distribution of type A screws, but the type B screw in the MIS-TLIF group was higher (p < 0.05). There was no difference in the incidence of complications between the two groups (p > 0.05). Conclusion: The postoperative quality of life score and radiological outcomes of the two types of surgery in two-level lumbar degenerative diseases was similar, and there was no significant difference in muscle injury and complications, but the operation time and intraoperative radiation exposurewere higher than in the OPEN-TLIF group, and the pedicle screws were more likely to deviate laterally out of the vertebral body. Therefore, OPEN-TLIF is recommended for patients with lumbar degenerative diseases of two segments.

OBJECTIVE: To provide accurate genetic counseling, the genotype-phenotype correlation of the patients with KCNQ4 mutations was analyzed. METHODS: Two hearing loss families, 1807956(a five-generation family with 34 members) and 1707806(a three-generation family with 12 members) were recruited. The candidate variants were detected by next generation sequencing technology. Sanger sequencing was performed to verify the co-segregation of the phenotype in the recruited family members. According to American College of Medical Genetics and Genomics(ACMG) guideline, combined with clinical data, genetic testing, bioinformatic analysis and electrophysiological experiments, the pathogenicity of mutations was analyzed and genetic counseling was provided for family members. RESULTS: The proband of family 1807956 was a pregnant woman, who carried KCNQ4 c.808T>G p.Y270D and developed hearing loss at the age of 15 years old, she had profound hearing loss in both ears, with middle-frequency highly affected. The proband of family 1707806 was an adolescent whose onset age was 11 years old, carrying KCNQ4 c.733G>A p.G245R, he presented with bilateral moderately severe hearing loss. The inheritance pattern of these two families were autosomal dominant inheritance. The two variants were missense mutations that were co-segregation in the two families and were not found in normal population. The mutations predicted by bioinformatic analysis tools were damaging and highly conserved in different species. Electrophysiological experiments showed that the function of the mutant ion channels was impaired. According to ACMG guideline, KCNQ4 c.808T>G was pathogenic, and KCNQ4 c.733G>A was likely pathogenic. CONCLUSION: The two mutations in this research were reported for the first time. The hearing loss of the patients showed heterogeneity, enriching the variation spectrum and clinical phenotype of KCNQ4.

In this study, the effects of lead ions(Pb2+) on the conformations of leucine encephalin(LE) and methionine encephalin(ME) in gas phase were studied using hydrogen/deuterium exchange mass spectrometry(HDX-MS) and quantum chemistry theoretical calculations at the molecular level. The HDX-MS result revealed that the complexes with the monovalent compounds [LE+Pb−H]+ and [ME+Pb−H]+ had a 1:1 stoichiometric ratio, and different HDX reactivates were observed in a follow of [ME+H]+>[LE+H]+>[LE+Pb−H]+> [ME+Pb−H]+. Combining the collision-induced dissociation energies of the complexes and their HDX results, it was found that the more stable the complex, the harder it was for HDX. In addition, the favorable conformations of the complexes were obtained by theoretical calculations, revealing that the similar coordination type with different bond lengths was obtained. Then, the proton affinity(PA) values of the optimized complexes were calculated to interpret the HDX observations, indicating that the higher the PA values, the more difficult it was for HDX. Overall, the experiments and theoretical calculations revealed that Pb2+ could induce conformational changes of LE and ME, and generate ME into a more rigid conformation than LE. The results will prompt further fundamental investigations on the conformational properties of LE/ME in coordination with Pb2+.

AIM Currently, little studies focus on treatment strategies and survival after progression of gefitinib in older patients with epidermal growth factor receptor )EGFR( mutant advanced non-small-cell lung cancer (NSCLC). The aim of this study was to investigate the influence of different treatment modalities on survival after progression of gefitinib in older patients. METHODS This is a retrospective analysis included 62 consecutively recruited EGFR-mutant advanced NSCLC patients aged over 70 years who failed first-line gefitinib between 2008 and 2018. Kaplan-Meier method was used to estimate curves for overall survival (OS). Multivariate analysis identified independent prognostic risk factors of OS. RESULTS The median age at diagnosis was 75 years (range, 70-88 years). The median progression-free survival of gefitinib was 11.0 months. Forty-four (69.4%) patients continued gefitinib beyond progressive disease (PD), and median gefitinib treatment duration was 18.0 months. Only 67.7% patients received anticancer treatments after discontinuation of gefitinib. The median OS was 24.5 months (95% confidence interval [CI], 19.7-29.3 months). After failure of gefitinib, the osimertinib only group had significantly improved OS compared with chemotherapy or palliative care only groups (37.5 versus 17.5 and 15.3 months, respectively; P = .017). Multivariate analysis showed that continuous gefitinib after Response Evaluation Criteria in Solid Tumor-defined PD (hazards ratio [HR] 0.273, 95% CI: 0.132-0.564, P

Skeletal muscle mass and function tend to decline with increasing age. Insulin-like growth factor 1 (IGF-1) plays a key role in promoting skeletal muscle growth. Exercise improves skeletal muscle mass and function via the activation of IGF-1 signaling. The aim of this study was to investigate whether different types of exercise can promote muscle hypertrophy, exercise and metabolic capacities, and activate IGF-1 signaling during early aging in mice. We randomly assigned 12 month old male C57/BL6 mice into five groups: control, aerobic exercise, resistance exercise, whole-body vibration and electrical stimulation group. Gastrocnemius muscle mass, myofiber size, levels of IGF-1 signaling, oxidative stress, protein synthesis and degradation, and apoptosis were detected. C2C12 cells were used to explore the mechanism by which exercise exerts its effects. We confirmed that the four modes of exercise increased skeletal muscle mass, exercise capacity, indicators of metabolism and protein synthesis, and inhibited oxidative stress and apoptosis via activation of the IGF-1 pathway. The most effective intervention was resistance exercise. Whole-body vibration promoted muscle hypertrophy better than aerobic exercise. Furthermore, in the in vitro experiment, the importance of IGF-1/IGF-1R–PI3K/Akt signaling for maintaining skeletal muscle mass was confirmed. Aerobic exercise, resistance exercise, whole-body vibration and electrical stimulation increased skeletal muscle mass, exercise capacity, protein synthesis and metabolic enzyme activity, and inhibited protein degradation and apoptosis in mice undergoing early aging via activation of IGF-1 signaling. Of these, whole-body vibration has been shown to be significantly effective and is similar to conventional exercise in promoting muscle hypertrophy.

A facile method to produce an MXene–TiO2 composite is demonstrated for enhanced field emission display applications. The field emission performance of two-dimensional free-standing and linear-shaped field emitters has been systematically investigated and enhanced electron emission behaviors (e.g. emission current, stability and emission patterns) are achieved by compositing MXene and TiO2 nanowires. The relationship between the emission current density, electric field and anode-cathode gap distance is studied and the emitters, especially the cross-section of the composite film, show good performance. The emission current from the cross-section of the composite film can reach 289 mA cm−2, which is the best result of the state of the art compared to single MXene and TiO2 nanowires. We have also reported a triboelectric nanogenerator powered by free-standing MXene–TiO2 composite emitters, implying the feasibility of the self-powering field emission devices and possibly enlarging the applications of cold emitters in various fields.

The design and construction of radioactive stable metal–organic frameworks (MOFs) are highly desirable for noble gases (Xe and Kr) separation from off-gas steams during used nuclear fuel reprocessi...

Efforts have been devoted to achieving a highly efficient artificial synthesis of ammonia (NH3 ). Reported herein is a novel Fe-MoS2 catalyst with Fe atomically dispersed onto MoS2 nanosheets, imitating natural nitrogenase, to boost N2 electroreduction into NH3 at room temperature. The Fe-MoS2 nanosheets exhibited a faradic efficiency of 18.8 % with a yield rate of 8.63 μg NH 3 mgcat. -1 h-1 for NH3 at -0.3 V versus the reversible hydrogen electrode. The mechanism study revealed that the electroreduction of N2 was promoted and the competing hydrogen evolution reaction was suppressed by decorating the edge sites of S in MoS2 with the atomically dispersed Fe, resulting in high catalytic performance for the electroreduction of N2 into NH3 . This work provides new ideas for the design of catalysts for N2 electroreduction and strengthens the understanding about N2 activation over Mo-based catalysts.

In this study, the potential effects of a novel alkali-soluble polysaccharide (ASPP) from purple sweet potato on colonic histopathology, inflammation and microbiota composition in dextran sulfate sodium (DSS)-induced colitis mice were evaluated. The results indicated that ASPP restored the immune organ indices, increased colon length, improved colonic histopathology in colitis mice as well as inhibited the levels of pro-inflammatory cytokines (IL-1β, IL-6 and TNF-α) in colonic tissue and serum. Moreover, 16S rRNA phylogenetic sequencing revealed that ASPP ameliorated the compositions and functions of gut microbiota in DSS-induced colitis mice. It was found that Parasutterella, Desulfovibrio, Lachnospiraceae, Lactobacillus, Erysipelotrichaceae, Bacteroidetes were the key bacteria associated with ulcerative colitis (UC). Taken together, ASPP alleviated colonic inflammation via blocking pro-inflammatory cytokines; meanwhile ASPP could modulate the structure of gut microbiota in DSS-induced colitis mice.

Potassium-ion batteries (PIBs) have been considered as promising candidates in the post-lithium-ion battery era. Till now, a large number of materials have been used as electrode materials for PIBs, among which vanadium oxides exhibit great potentiality. Vanadium oxides can provide multiple electron transfers during electrochemical reactions because vanadium possesses a variety of oxidation states. Meanwhile, their relatively low cost and superior material, structural, and physicochemical properties endow them with strong competitiveness. Although some inspiring research results have been achieved, many issues and challenges remain to be further addressed. Herein, we systematically summarize the research progress of vanadium oxides for PIBs. Then, feasible improvement strategies for the material properties and electrochemical performance are introduced. Finally, the existing challenges and perspectives are discussed with a view to promoting the development of vanadium oxides and accelerating their practical applications.

Transition-metal dichalcogenides (TMDs) have become one of the recent frontiers and focuses in two-dimensional (2D) materials fields thanks to their superior electronic, optical, and photoelectric properties. Triggered by the growing demand for developing nano-electronic devices, strain engineering of ultrathin TMDs has become a hot topic in the scientific community. In recent years, both theoretical and experimental research on the strain engineering of ultrathin TMDs have suggested new opportunities to achieve high-performance ultrathin TMDs based devices. However, recent reviews mainly focus on the experimental progress and the related theoretical research has long been ignored. In this review, we first outline the currently employed approaches for introducing strain in ultrathin TMDs, both their characteristics and advantages are explained in detail. Subsequently, the recent research progress in the modification of lattice and electronic structure, and physical properties of ultrathin TMDs under strain are systematically reviewed from both experimental and theoretical perspectives. Despite much work being done in this filed, reducing the distance of experimental progress from the theoretical prediction remains a great challenge in realizing wide applications of ultrathin TMDs in nano-electronic devices.

Background Epidermal growth factor receptor (EGFR) gene mutation status is essential to the optimal management of lung adenocarcinoma. Liquid biopsy has advantages such as noninvasiveness, speediness, and convenience. This study aimed to detect EGFR gene mutations using next‐generation sequencing (NGS) from different types of body fluids from patients with lung adenocarcinoma. Methods This was a prospective study of 20 patients with lung adenocarcinoma recruited between January 2017 and December 2018 at the Beijing Hospital. All patients had adenocarcinoma with confirmed sensitizing EGFR mutations. Body fluid specimens included pleural effusion, ascites, pericardial effusion, and cerebrospinal fluid. NGS was conducted to test for nine lung cancer‐related gene in body fluid supernatant free DNA, sedimentary tumor cells, and plasma free DNA. Results The EGFR gene mutation abundance of body fluid supernatant free DNA was higher than that of body fluid sedimentary tumor cells and plasma free DNA specimens (100% vs. 90% vs. 80%, respectively, all P

In this study, the purified water-soluble polysaccharide (ALP-1) from Arctium lappa was used to intervene lipopolysaccharide-induced RAW264.7 macrophage and systemic inflammatory mice. Our results showed that ALP-1 could effectively accommodate the levels of inflammatory cytokines in macrophages and serum of mice, including increased anti-inflammatory cytokine (interleukin-10) and down-regulated pro-inflammatory cytokines (interleukin-1β, interleukin-6 and Tumor Necrosis Factor-α). Moreover, according to our data from 16 s high-throughput sequencing, as compared with LPS model group, the composition of gut microbiota in mice was ameliorated in ALP-1 treatment group. There were higher levels of several probiotics in the stools of ALP-1 treatment group, such as Lactobacillius, Alistipes, Odoribacter, and Phascolarctobacterium. Simultaneously, symbiotic bacteria like Bacteroides were inhibited by ALP-1. Besides, ALP-1 could significantly enhance the production of short chain fatty acids (SCFAs) in gut.

The detection of H2S is essential due to its dangerous toxicity and extensive existence in the oil and gas industries. Zeolitic imidazolate framework-8 (ZIF-8) particle-loaded ZnO nanorod hybrid is designed and fabricated as a gas sensor, which exhibits a superior sensitivity and selectivity for H2S at room temperature. ZIF-8 plays a key role in improving the sensitivity and selectivity of ZIF-8/ZnO nanorod sensor. The loading of porous ZIF-8 particles on the ZnO surfaces provides larger surface areas and more oxygen vacancies and reacts with H2S. Thus, ZIF-8/ZnO nanorod sensor has a better H2S adsorption function and transduction function compared to raw ZnO nanorod sensor. Remarkably, the response of ZIF-8/ZnO nanorod sensor to 10 ppm H2S is 52.1% even at 25 °C, which is 15 times higher than that of raw ZnO nanorod sensor. ZIF-8/ZnO nanorod sensor is able to detect H2S at a level down to 50 ppb. Moreover, it shows an excellent selective sensitivity for H2S over other reducing gases. High-performance H2S sensor is realized by the integration of metal-organic frameworks (MOFs) with semiconductor metal oxides (SMOs).

In this study, the structural characterization and anti-inflammation effect of dilute alkali-soluble polysaccharides from purple sweet potato were investigated. Three fractions (F-1, F-2 and F-3) were obtained by purifying crude polysaccharides on DEAE-52 cellulose column. The main fraction (F-1) was further purified on Sephadex G-200 column to afford purified alkali-soluble sweet potato polysaccharide (ASPP). The chemical structure of ASPP was analyzed by gas chromatography, Fourier transform infrared spectroscopy, methylation analysis and nuclear magnetic resonance spectroscopy. Monosaccharide compositional analysis showed ASPP was composed of rhamnose, arabinose, xylose, mannose and glucose in the molar ratio of 2.8:1.9:1.0:7.6:53.3. Moreover, the backbone of ASPP was composed of 1,4-linked Glcp with side chains attached to the O-6 position. The anti-inflammation effect of ASPP was further investigated by in vitro and in vivo experiments. Results showed ASPP could inhibit the levels of nitric oxide, interleukin (IL)-6, IL-1β and TNF-α but increase the production of IL-10 in lipopolysaccharide (LPS)-treated RAW 264.7 macrophage cells. In addition ASPP could reduce the secretion of IL-6, IL-1β and TNF-α in LPS-treated mice. Our results suggest ASPP can be developed as a novel anti-inflammation agent.

In this study, water-soluble polysaccharide from Arctium lappa was extracted, isolated and purified to be a fraction (ALP-1). Characterization of structure revealed that ALP-1 was a kind of fructan with a molecular weight of 5.12 × 103 Da. ALP-1 was composed of (2→ 1)-β-d-fructofuranose backbone linked to a terminal of (2 → 1)-α-d-glucopyranose at the non-reducing end and a (2 → 6)-β-d-fructofuranose branching. DSS-induced colitis mice were used to determine the inhibitory effects of ALP-1 on gut inflammation. Results indicated that ALP-1 could significantly ameliorate the dysregulation of pro-inflammatory cytokines (IL-1β, IL-6 and TNF-α) and anti-inflammatory cytokine (IL-10) caused by colitis. Besides, as compared with model group, the abundance of Firmicutes, Ruminococcaceae, Lachnospiraceae and Lactobacillus were significantly increased with ALP-1 treatment. And ALP-1 could significantly inhibit the levels of Proteobacteria, Alcaligenaceae, Staphylococcusand and Bacteroidetes. Therefore, ALP-1 may be effective in protecting mice from DSS-induced colitis.

A facile method to produce an MXene-TiO2 composite is demonstrated for enhanced field emission display applications. The field emission performance of two-dimensional free-standing and linear-shaped field emitters has been systematically investigated and enhanced electron emission behaviors (e.g. emission current, stability and emission patterns) are achieved by compositing MXene and TiO2 nanowires. The relationship between the emission current density, electric field and anode-cathode gap distance is studied and the emitters, especially the cross-section of the composite film, show good performance. The emission current from the cross-section of the composite film can reach 289 mA cm-2, which is the best result of the state of the art compared to single MXene and TiO2 nanowires. We have also reported a triboelectric nanogenerator powered by free-standing MXene-TiO2 composite emitters, implying the feasibility of the self-powering field emission devices and possibly enlarging the applications of cold emitters in various fields.

In this study, the ameliorative effect of purified polyphenols from Arctium lappa L (ALPP) on doxorubicin (DOX)-induce heart failure was investigated. Results indicated that ALPP pretreatment significantly reduced the activities of casein kinase and lactate dehydrogenase, lowered the levels of inflammatory indexes (TNF-α and NO), and alleviated antioxidant stress in DOX-induce mice, thus leading to a reduced heart failure syndrome. In addition, according to 16s high-throughput sequencing, the increased abundance of Lactobacillaceae, Muribaculaceae, and Ruminococcaceae and the decreased abundance of Proteobacteria, Enterobacteriaee, and Escherichia_Shigella were observed in ALPP treatment group. ALPP could significantly enhance the abundance of bacteria producing short chain fatty acids (SCFAs) and then promote the increase of SCFAs. Consequently, ALPP might be a therapeutic alternative in the treatment of DOX-induced heart failure. PRACTICAL APPLICATIONS: The effect of Arctium lappa L (ALPP) on doxorubicin (DOX)-induced heart failure was investigated. It provided experimental basis for further studies on the biological activity of polyphenols from ALPP. The results demonstrated that ALPP could significantly ameliorate DOX-induced heart failure and improve the gut microbiota composition. The obtained results could provide the potential application of ALPP as an alternative therapy for heart failure in the functional food industry.

Hereditary hearing loss (HL) has high genetic and phenotypical heterogeneity including the overlapping and variable phenotypic features. For sporadic HL without a family history, it is more difficult to indicate the contribution of genetic factors to define a pattern of inheritance. We assessed the contribution of genetic variants and patterns of inheritance by a family trio-based sequencing and provided new insight into genetics. We conducted an analysis of data from unrelated sporadic patients with HL (n = 404) who underwent trio-based whole-exome sequencing (trio-WES) or proband-only WES (p-WES) or targeted exome sequencing (TES), and the samples of their unaffected-parents (n = 808)were validated. A molecular diagnosis was rendered for 191 of 404 sporadic HL patients (47.3%) in multiple modes of inheritance, including autosomal recessive (AR), autosomal dominant (AD) caused by de novo variants, copy-number variants (CNVs), X-linked recessive, and dual genetic diagnosis. Among these patients, 83 (43.5%) cases were diagnosed with variants in rare genes. Sporadic HL patients were identified by multiple modes of transmission. Observed variations in rare genes and multiple modes of inheritance can strikingly emphasize the important etiological contribution of recessive and de novo genetic variants to a large cohort of sporadic HL cases plus their parents.

Teaching method is the “catalyst” to improve the quality of talent training and tap the potential of talent development. It is also the basic way to realize the goal of talent training. Taking full advantage of existing information technology, this paper starts with the main problems faced by the teaching methods of military basic courses under the condition of actual combat and creatively proposes the thinking resonance teaching method, feedback incentive teaching method, behavioral experience teaching method, and other teaching methods. It has carried on the beneficial research to the question which should grasp in the course of the innovation teaching method.