Screening copy number variations in 35 unsolved inherited retinal disease families.

The purpose of this study was to screen Copy Number Variations (CNVs) in 35 unsolved Inherited Retinal Dystrophy (IRD) families. Initially, next generation sequencing, including a specific Hereditary Eye Disease Enrichment Panel or Whole exome sequencing, was employed to screen (likely) pathogenic Single-nucleotide Variants (SNVs) and small Insertions and Deletions (indels) for these cases. All available SNVs and indels were further validated and co-segregation analyses were performed in available family members by Sanger sequencing. If not, after excluding deep intronic variants, Multiplex ligation-dependent probe amplification (MLPA), quantitative fluorescence PCR (QF-PCR) and Sanger sequencing were employed to screen CNVs. We determined that 18 probands who had heterozygous SNVs/indels or whose parents were not consanguineous but had homozygous SNVs/indels in autosomal recessive IRDs genes had CNVs in another allele of these genes, 11 families had disease-causing hemizygous CNVs in X-linked IRD genes, 6 families had (likely) pathogenic heterozygous CNVs in PRPF31 gene. Of 35 families, 33 different CNVs in 16 IRD-associated genes were detected, with PRPF31, EYS and USH2A the most common disease-causing gene in CNVs. Twenty-six and 7 of them were deletion and duplication CNVs, respectively. Among them, 14 CNVs were first reported in this study. Our research indicates that CNVs contribute a lot to IRDs, and screening of CNVs substantially increases the diagnostic rate of IRD. Our results emphasize that MLPA and QF-PCR are ideal methods to validate CNVs, and the novel CNVs reported herein expand the mutational spectrums of IRDs.

Identifying an AML Prognostic Model Using 10 Marker Genes from Single-Cell Transcriptome and Bulk Transcriptome Analysis.

Fanconi anemia (FA) is the predominant hereditary syndrome of bone marrow failure (BMF), distinguished by impairments in DNA repair mechanisms. The deficiency in the FANC pathway, which governs DNA repair and replication rescue, results in aberrant responses to DNA damage in individuals with FA. The objective of this study is to examine the involvement of the FANC core complex in BMF and ascertain nucleolar homeostasis-related genes by conducting transcriptome analysis on primary hematopoietic stem cells obtained from FA patients with FANCA and FANCC variants. In the present study, we analyzed scRNA-seq data obtained from both healthy donors and individuals diagnosed with FA in order to investigate the phenomenon of cell-cell communication. Through the implementation of trajectory analysis, the differentiation pathways of several progenitor cell types, such as HSC cells transitioning into LMPP, N, M, B-prog, and E cells, were elucidated. Moreover, by scrutinizing the inferred interactions, notable disparities in cell-cell communication were observed between FA patients and their healthy counterparts. Our analysis has unveiled heightened interactions involving TNFSF13B, MIF, IL16, and COL4A2 in patients with FA. Furthermore, we have developed a prognostic model for predicting the outcome of acute myeloid leukemia (AML) which has exhibited remarkable predictive precision, with an AUC exceeding 0.83 at the 3- and 5-year intervals following the baseline assessment. In summary, the prognostic model that has been developed provides a valuable instrument for forecasting outcomes of AML by utilizing the genes identified through both single-cell and bulk transcriptome analyses.

Correlation between immunotherapy biomarker PD-L1 expression and genetic alteration in patients with non-small cell lung cancer.

Programmed death-ligand 1 (PD-L1) has been widely used in immunotherapy evaluation of patients with non-small cell lung cancer (NSCLC). However, the effect is not particularly ideal, and the association between PD-L1 and genetic alterations requires more exploration. Here, we performed targeted next-generation sequencing and PD-L1 immunohistochemistry (IHC) testing for PD-L1 expression on both tumor cells (TCs) and tumor-infiltrating immune cells (ICs) in 1549 patients. Our studies showed that surgical method of resection was positively correlated with IC+, and a low tumor mutation burden (TMB) was negatively correlated with TC+. Furthermore, we found that EGFR was mutually exclusive with both ALK and STK11. In addition, the features between PD-L1 expression status and genomic alterations were characterized. These results suggest that clinical characteristics and molecular phenotypes are associated with PD-L1 expression signatures, which may provide novel insights for improving the efficiency of immune checkpoint inhibitors (ICIs) in immunotherapy.

Disentangling the Li-Ion transport and Boundary Phase Transition Processes in Li10 GeP2 S12 Electrolyte by In-Operando High-Pressure and High-Resolution NMR Spectroscopy.

Li-ion transport and phase transition of solid electrolytes are critical and fundamental issues governing the rate and cycling performances of solid-state batteries. In this work, in-operando high-pressure nuclear magnetic resonance (NMR) spectroscopy for the solid-state battery is developed and applied, in combination with 6 Li-tracer NMR and high-resolution NMR spectroscopy, to investigate the Li10 GeP2 S12 electrolyte under true-to-life operation conditions. The results reveal that the Li10 GeP2 S12 phase may become more disordered and a large amount of conductive metastable ß-Li3 PS4 as the glassy matrix in the electrolyte transforms into less conductive phases, mainly γ-Li3 PS4 , when high current densities (e.g., ≥0.5 mA cm-2 ) are applied to the electrolyte. The overall Li-transport also varies and shows a tendency of boundary phases and Li10 GeP2 S12 synergistic dominant conduction at high currents. Accordingly, a mechanism of structural change induced by stress variation due to the drastic morphological change during Li-In alloying at high currents, and the local Li+ diffusion coefficient discrepancy is proposed. These new findings of Li-ion transport and boundary phase transition in Li10 GeP2 S12 solid electrolyte under high-pressure and high current density are first reported and will help provide previously lacking insights into the relationship of structure and performance of Li10 GeP2 S12 .

Disentangling Phase and Morphological Evolution During the Formation of the Lithium Superionic Conductor Li10 GeP2 S12.

The structural and morphological changes of the Lithium superionic conductor Li10 GeP2 S12 , prepared via a widely used ball milling-heating method over a comprehensive heat treatment range (50 - 700 °C), are investigated. Based on the phase composition, the formation process can be distinctly separated into four zones: Educt, Intermediary, Formation, and Decomposition zone. It is found that instead of Li4 GeS4 -Li3 PS4 binary crystallization process, diversified intermediate phases, including GeS2 in different space groups, multiphasic lithium phosphosulfides (Lix Py Sz ), and cubic Li7 Ge3 PS12 phase, are involved additionally during the formation and decomposition of Li10 GeP2 S12 . Furthermore, the phase composition at temperatures around the transition temperatures of different formation zones shows a significant deviation. At 600 °C, Li10 GeP2 S12 is fully crystalline, while the sample decomposed to complex phases at 650 °C with 30 wt.% impurities, including 20 wt.% amorphous phases. These findings over such a wide temperature range are first reported and may help provide previously lacking insights into the formation and crystallinity control of Li10 GeP2 S12 .

Impact of Electrostatic Interaction on Non-radiative Recombination Energy Losses in Organic Solar Cells Based on Asymmetric Acceptors.

Reducing non-radiative recombination energy loss (ΔE3 ) is one key to boosting the efficiency of organic solar cells. Although the recent studies have indicated that the Y-series asymmetric acceptors-based devices featured relatively low ΔE3 , the understanding of the energy loss mechanism derived from molecular structure change is still lagging behind. Herein, two asymmetric acceptors named BTP-Cl and BTP-2Cl with different terminals were synthesized to make a clear comparative study with the symmetric acceptor BTP-0Cl. Our results suggest that asymmetric acceptors exhibit a larger difference of electrostatic potential (ESP) in terminals and semi-molecular dipole moment, which contributes to form a stronger π-π interaction. Besides, the experimental and theoretical studies reveal that a lower ESP-induced intermolecular interaction can reduce the distribution of PM6 near the interface to enhance the built-in potential and decrease the charge transfer state ratio for asymmetric acceptors. Therefore, the devices achieve a higher exciton dissociation efficiency and lower ΔE3 . This work establishes a structure-performance relationship and provides a new perspective to understand the state-of-the-art asymmetric acceptors.

Active Interphase Enables Stable Performance for an All-Phosphate-Based Composite Cathode in an All-Solid-State Battery.

High interfacial resistance and unstable interphase between cathode active materials (CAMs) and solid-state electrolytes (SSEs) in the composite cathode are two of the main challenges in current all-solid-state batteries (ASSBs). In this work, the all-phosphate-based LiFePO4 (LFP) and Li1.3 Al0.3 Ti1.7 (PO4 )3 (LATP) composite cathode is obtained by a co-firing technique. Benefiting from the densified structure and the formed redox-active Li3- x Fe2- x - y Tix Aly (PO4 )3 (LFTAP) interphase, the mixed ion- and electron-conductive LFP/LATP composite cathode facilitates the stable operation of bulk-type ASSBs in different voltage ranges with almost no capacity degradation upon cycling. Particularly, both the LFTAP interphase and LATP electrolyte can be activated. The cell cycled between 4.1 and 2.2 V achieves a high reversible capacity of 2.8 mAh cm-2 (36 µA cm-2 , 60 °C). Furthermore, it is demonstrated that the asymmetric charge/discharge behaviors of the cells are attributed to the existence of the electrochemically active LFTAP interphase, which results in more sluggish Li+ kinetics and more expansive LFTAP plateaus during discharge compared with that of charge. This work demonstrates a simple but effective strategy to stabilize the CAM/SSE interface in high mass loading ASSBs.

Positive correlations between plasma BPI level and MPO-DNA and S100A8/A9 in myocardial infarction.

Bactericidal/permeability-increasing protein (BPI) exhibits a number of important characteristics. RNA-seq analysis revealed that the BPI expression was increased in platelets of (non)ST-elevated myocardial infarction (NSTEMI/STEMI) patients. Activated platelets can induce NETosis which may be accompanied by the release of myeloperoxidase-DNA (MPO-DNA) and S100A8/A9. This study investigated the plasma BPI levels in myocardial infarction patients and its correlation with MPO-DNA and S100A8/A9. This prospective study recruited 80 control individuals, as well as 63 NSTEMI and 59 STEMI patients who were admitted to the First Affiliated Hospital of Bengbu Medical College for coronary angiography (CAG) and/or percutaneous coronary intervention (PCI) between May 1, 2020 and August 31, 2020. Demographic and clinical characteristics, clinical indicators, hs-CRP, IL-1ß, MPO-DNA (a circulated marker of NETs), circulating levels of S100A8/A9 and BPI were measured from each individual. The severity of coronary lesions was evaluated by the Gensini score, based on the results of the CAG. Pearson's or spearman's correlation was used to examine the correlation between BPI and the above-mentioned parameters, as well as the severity of coronary artery disease. Linear regression analysis was applied to identify the independent predictive factors of BPI. Received operating characteristic (ROC) curve analysis was used to evaluate the diagnostic efficacy of plasma BPI for MI. The plasma BPI levels increased by 8.76 times in the STEMI group and 5.38 times in the NSTEMI group compared to the control group. The plasma level of hs-CRP and IL-1ß in both STEMI and NSTEMI groups were also significantly higher than the control group. In addition, the plasma levels of MPO-DNA and S100A8/A9 in the STEMI and NSTEMI groups were significantly higher than the control group. Plasma levels of BPI were positively correlated with IL-1ß, hs-CRP, MPO-DNA and S100A8/A9. The correlation between BPI and the severity of coronary artery disease was also significant. The optimal cutoff value of plasma BPI was 35.1705 ng/ml for MI patients from the ROC curve analysis. Plasma BPI levels are increased in myocardial infarction patients and positively correlated with MPO-DNA and S100A8/A9. Plasma BPI level may serve as a potential biomarker of myocardial infarction.

Association of neighborhood greenness with severity of hand, foot, and mouth disease.

BACKGROUND: Hand, foot, and mouth disease (HFMD) is an epidemic infectious disease in China. Relationship of neighborhood greenness with human health has been widely studied, yet its association with severe HFMD has not yet been established. METHODS: Individual HFMD cases that occurred in Guangdong province in 2010 were recruited and were categorised into mild and severe cases. Residential greenness was assessed using global land cover data. We used a case-control design (i.e., severe versus mild cases) with logistic regression models to assess the association between neighborhood greenness and HFMD severity. Effect modification was also examined. RESULTS: A total of 131,606 cases were included, of whom 130,840 were mild cases and 766 were severe cases. In an unadjusted model, HFMD severity increased with higher proportion of neighborhood greenness (odds ratio, OR = 1.029, 95%CI: 1.009-1.050). The greenness-HFMD severity association remained (OR = 1.031, 95%CI: 1.006-1.057) after adjusting for population density, demographic variables and climate variables. Both population density (Z = 4.148, P < 0.001) and relative humidity (Z = -4.297, P < 0.001) modified the association between neighborhood greenness and HFMD severity. In the stratified analyses, a protective effect (OR = 0.769, 95%CI: 0.687-0.860) of greenness on HFMD severity were found in the subgroup of population density being lower than and equal to 5 ln(no.)/km2. While in both the subgroups of population density being higher than 5, the greenness had hazard effects (subgroup of > 5 & ≤7: OR = 1.071, 95%CI: 1.024-1.120; subgroup of > 7: OR = 1.065, 95%CI: 1.034-1.097) on HFMD severity. As to relative humidity, statistically significant association between greenness and HFMD severity was only observed in the subgroup of being lower than and equal to 76% (OR = 1.059, 95%CI: 1.023-1.096). CONCLUSIONS: Our study found that HFMD severity is associated with the neighborhood greenness in Guangdong, China. This study provides evidence on developing a prevention strategy of discouraging the high-risk groups from going to the crowded green spaces during the epidemic period.

[Mortality of drowning and road traffic injury among children aged 5-14 in China from 2008 to 2019].

Objective: To analyze the trajectory of drowning and road traffic injury mortality among children aged 5-14 years in China from 2008 to 2019. Methods: Mortality data of unintentional injuries were from the Mortality Surveillance Data Set of National Disease Surveillance System from 2009 to 2018 and grouped by regions, urban and rural areas, genders, and age groups. The trajectory model was used to analyze the trend of drowning and road traffic injury mortality with years. Results: The mortality of drowning and road traffic injury showed a similar trend. In the trajectory model of drowning mortality, east, middle and west rural boys and western urban boys of all ages belonged to the high mortality group. The moderate mortality group included eastern urban boys and western girls aged 5-9 years and also contained eastern and middle urban boys and western urban girls aged 10-14 years. The other combinations belonged to the low mortality group. In the trajectory model of road traffic injury mortality, western urban boys, all rural boys and western rural girls aged 5-9 years, middle and western rural boys and western urban boys aged 10-14 years belonged to the high mortality group. Eastern urban girls aged 5-9 years and 10-14 years belonged to the low mortality group. The other combinations belonged to the moderate mortality group. Conclusion: There are different groups in the trajectory model of drowning and road traffic injury mortality among children in China. Identifying the trajectory of injury mortality is helpful to carry out more targeted prevention in China.

Trends of epidemiological characteristics of traumatic spinal cord injury in China, 2009-2018.

OBJECTIVE: We focus on providing the first comprehensive national dataset on the incidence, injury aetiology and mortality of TSCI in China. METHODS: A multi-stage stratified cluster sampling method was used. We included TSCI cases from all hospitals in three regions, nine provinces and 27 cities in China via search of electronic medical records and retrospectively analysed the characteristics of TSCI in China from 2009 to 2018. We estimated the incidence of TSCI in the total population and subgroups. RESULTS: There were 5954 actual cases in 2009, corresponding to a total estimated TSCI incidence of 45.1 cases per million population (95% CI, 44.0-46.3). There were 10,074 actual cases in 2018, corresponding to a total estimated TSCI incidence of 66.5 cases per million population (95% CI, 65.2-67.8) (P < 0.001; annual average percentage change (AAPC), 4.4%). From 2009 to 2018, the incidence of almost all sex/age groups showed an increasing trend over time (P < 0.001; AAPC, 0.7-8.8%). The elderly population (aged 65-74) displayed the highest incidence of TSCI (with an average annual incidence of 127.1 cases per million [95% CI, 119.8-134.3]). CONCLUSIONS: The TSCI incidence increased significantly from 2009 to 2018. The incidence in the elderly populations was consistently high and continues to increase over time. The mortality of TSCI patients in hospitals is relatively low and continues to decrease each year, but elderly individuals remain at a high risk of hospital death.

Correction to: Targeting TR4 nuclear receptor suppresses prostate cancer invasion via reduction of infiltrating acrophages with alteration of the TIMP-1/MMP2/MMP9 signals.

An amendment to this paper has been published and can be accessed via the original article.

Trends in cause-specific mortality among children aged 5-14 years from 2005 to 2016 in India, China, Brazil, and Mexico: an analysis of nationally representative mortality studies.

BACKGROUND: With global survival increasing for children younger than 5 years of age, attention is required to reduce the approximately 1 million deaths of children aged 5-14 years occurring every year. Causes of death at these ages remain poorly documented. We aimed to explore trends in mortality by causes of death in India, China, Brazil, and Mexico, which are home to about 40% of the world's children aged 5-14 years and experience more than 200 000 deaths annually at these ages. METHODS: We examined data on 244 401 deaths in children aged 5-14 years from four nationally representative data sources that obtained direct distributions of causes of death: the Indian Million Death Study, the Chinese Disease Surveillance Points, mortality data from the Mexican Instituto Nacional de Estadística y Geografía, and mortality data from the Brazilian Institute of Geography and Statistics. We present data on 12 main disease groups in all countries, with breakdown by communicable and nutritional diseases, non-communicable diseases, injuries, and ill-defined causes. To calculate age-specific and sex-specific death rates for each cause, we applied the national cause of death distribution to the UN mortality envelopes for 2005-16 for each country. FINDINGS: Unlike Brazil, China, and Mexico, communicable diseases still account for nearly half of deaths in India in children aged 5-14 years (73 920 [46·1%] of 160 330 estimated deaths in 2016). In 2016, India had the highest death rates in nearly every category, including from communicable diseases. Fast declines among girls in communicable disease mortality narrowed the gap by 2016 with boys in India (32·6 deaths per 100 000 girls vs 26·2 per 100 000 boys) and China (1·7 vs 1·5). In China, injuries accounted for the greatest proportions of deaths (20 970 [53·2%] of 39 430 estimated deaths, in which drowning was a leading cause). The homicide death rate at ages 10-14 years was higher for boys than for girls in Brazil, increasing annually by an average of 0·7% (0·3-1·1). In India and China, the suicide death rates were higher for girls than for boys at ages 10-14 years. By contrast, in Mexico it was higher for boys than for girls, increasing annually by an average of 2·8% (2·0-3·6). Deaths from transport injuries, drowning, and cancer are common in all four countries, with transport accidents among the top three causes of death for both sexes in all countries, except for Indian girls, and cancer in the top three causes for both sexes in Mexico, Brazil, and China. INTERPRETATION: Most of the deaths that occurred between 2005 and 2016 in children aged 5-14 years in India, China, Brazil, and Mexico arose from preventable or treatable conditions. This age group is important for extending some of the global disease-specific targets developed for children younger than 5 years of age. Interventions to control non-communicable diseases and injuries and to strengthen cause of death reporting systems are also required. FUNDING: WHO and the University of Toronto Connaught Global Challenge.

Mortality, morbidity, and risk factors in China and its provinces, 1990-2017: a systematic analysis for the Global Burden of Disease Study 2017.

BACKGROUND: Public health is a priority for the Chinese Government. Evidence-based decision making for health at the province level in China, which is home to a fifth of the global population, is of paramount importance. This analysis uses data from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2017 to help inform decision making and monitor progress on health at the province level. METHODS: We used the methods in GBD 2017 to analyse health patterns in the 34 province-level administrative units in China from 1990 to 2017. We estimated all-cause and cause-specific mortality, years of life lost (YLLs), years lived with disability (YLDs), disability-adjusted life-years (DALYs), summary exposure values (SEVs), and attributable risk. We compared the observed results with expected values estimated based on the Socio-demographic Index (SDI). FINDINGS: Stroke and ischaemic heart disease were the leading causes of death and DALYs at the national level in China in 2017. Age-standardised DALYs per 100 000 population decreased by 33·1% (95% uncertainty interval [UI] 29·8 to 37·4) for stroke and increased by 4·6% (-3·3 to 10·7) for ischaemic heart disease from 1990 to 2017. Age-standardised stroke, ischaemic heart disease, lung cancer, chronic obstructive pulmonary disease, and liver cancer were the five leading causes of YLLs in 2017. Musculoskeletal disorders, mental health disorders, and sense organ diseases were the three leading causes of YLDs in 2017, and high systolic blood pressure, smoking, high-sodium diet, and ambient particulate matter pollution were among the leading four risk factors contributing to deaths and DALYs. All provinces had higher than expected DALYs per 100 000 population for liver cancer, with the observed to expected ratio ranging from 2·04 to 6·88. The all-cause age-standardised DALYs per 100 000 population were lower than expected in all provinces in 2017, and among the top 20 level 3 causes were lower than expected for ischaemic heart disease, Alzheimer's disease, headache disorder, and low back pain. The largest percentage change at the national level in age-standardised SEVs among the top ten leading risk factors was in high body-mass index (185%, 95% UI 113·1 to 247·7]), followed by ambient particulate matter pollution (88·5%, 66·4 to 116·4). INTERPRETATION: China has made substantial progress in reducing the burden of many diseases and disabilities. Strategies targeting chronic diseases, particularly in the elderly, should be prioritised in the expanding Chinese health-care system. FUNDING: China National Key Research and Development Program and Bill & Melinda Gates Foundation.

The disease burden attributable to 18 occupational risks in China: an analysis for the global burden of disease study 2017.

BACKGROUND: China has more than 18% of the global population and over 770 million workers. However, the burden of disease attributable to occupational risks is unavailable in China. We aimed to estimate the burden of disease attributable to occupational exposures at provincial levels from 1990 to 2017. METHODS: We estimated the summary exposure values (SEVs), deaths and disability-adjusted life years (DALYs) attributable to occupational risk factors in China from 1990 to 2017, based on Global Burden of Disease Study (GBD) 2017. There were 18 occupational risks, 22 related causes, and 35 risk-outcome pairs included in this study. Meanwhile, we compared age-standardized death rates attributable to occupational risk factors in provinces of China by socio-demographic index (SDI). RESULTS: The SEVs of most occupational risks increased from 1990 to 2017. There were 323,833 (95% UI 283,780 - 369,061) deaths and 14,060,210 (12,022,974 - 16,125,763) DALYs attributable to total occupational risks in China, which were 27.9 and 22.1% of corresponding global levels, respectively. For attributable deaths, major risks came from occupational particulate matter, gases, and fumes (PGFs), and for the attributable DALYs, from occupational injuries. The attributable burden was higher in males than in females. Compared with high SDI provinces, low SDI provinces, especially Western China, had higher death rates attributable to total occupational risks, occupational PGFs, and occupational injuries. CONCLUSION: Occupational risks contribute to a huge disease burden in China. The attributable burden is higher in males, and in less developed provinces of Western China, reflecting differences in risk exposure, socioeconomic conditions, and type of jobs. Our study highlights the need for further research and focused policy interventions on the health of workers especially for less developed provinces in China to reduce occupational health losses effectively.

Weather effects on hand, foot, and mouth disease at individual level: a case-crossover study.

BACKGROUND: Hand, foot, and mouth disease (HFMD) raises an urgent public health issue in the Asia-Pacific region, especially in China. The associations between weather factors and HFMD have been widely studied but with inconsistent results. Moreover, previous studies utilizing ecological design could not rule out the bias of exposure misclassification and unobserved confounders. METHODS: We used case-crossover analysis to assess the associations of weather factors on HFMD. Individual HFMD cases from 2009 to 2012 in Guangdong were collected and cases located within 10 km of the meteorological monitoring sites were included. Lag effects were examined through the previous 7 days. In addition, we explored the variability by changing the distance within 20 km and 30 km. RESULTS: We observed associations between HFMD and weather factors, including temperature and relative humidity. An approximately U-shaped relationship was observed for the associations of temperature on HFMD across the same day and the previous 7 days, while an approximately exponential-shaped was seen for relative humidity. Statistically significant increases in rates of HFMD were associated with each 10-unit increases in temperature [Excess rate (ER): 7.7%; 95% Confidence Interval (CI): 3.9, 11.7%] and relative humidity (ER: 1.9%; 95% CI: 0.7, 3.0%) on lag days 0-6, when assessing within 10 km of the monitoring sites. Potential thresholds for temperature (30.0 °C) and relative humidity (70.3%) detected showed associations with HFMD. The associations remained robust for 20 km and 30 km. CONCLUSIONS: Our study found that temperature and relative humidity are significantly associated with the increased rates of HFMD. Thresholds and lag effects were observed between weather factors and HFMD. Our findings are useful for planning on targeted prevention and control of HFMD.

Interpenetrating graphene network bct-C40: a promising anode material for Li ion batteries.

The stable sp2-C atoms in graphite enable its excellent structural and electrochemical stability as an anode material for Li-ion battery applications, while the limited Li-storage capacity of graphite also originates from the sp2 hybridization. Herein, from first-principles calculations, we show that a synergistic effect of sp2 and sp3 hybridized C atoms can substantially enhance the Li-storage performance in carbon-based anodes, using bct-C40 as an example, which is constructed with interconnected graphene layers (sp2 hybridized C atoms) and the connecting points are composed of sp3-C atoms. Charge transfer from sp2-C atoms to sp3-C atoms has been found, leading to unoccupied electronic states forming around the Fermi level. Furthermore, we found that the unoccupied electronic states are contributed by the pz orbital of the sp2-C atoms, resulting in stronger interactions between C atoms and intercalated Li atoms. As a result, the Li intercalation concentration in bct-C40 can reach as high as LiC2.5 (corresponding to a capacity of 893 mA h g-1), much higher than that of LiC6 in graphite (372 mA h g-1). Furthermore, bct-C40 inherits good structural and electrochemical stability, a metallic electronic structure, and low Li-ion migration energy barriers (0.067-0.112 eV) from the sp2 hybridized graphene structures, therefore very good Li-storage performance is expected, indicating that bct-C40 can be used as a high-performance anode material for lithium ion batteries. Our study provides new insights into the functionality of sp2- and sp3-C atoms in carbon-based anode materials and is helpful for the designing of new carbon-based anodes.

Robot-Assisted Laparoscopic Left Renal Vein Transposition for the Treatment of Nutcracker Syndrome: A Preliminary Experience.

BACKGROUND: The aim of this study was to describe our robot-assisted laparoscopic left renal vein (LRV) transposition experiences for nutcracker syndrome treatment. METHODS: From August 2016 through May 2017, three patients with nutcracker syndrome underwent robot-assisted laparoscopic LRV transpositions. The patient demographics, surgical outcomes, and postoperative morbidities were reviewed. RESULTS: Successful surgical procedures were performed in all three patients. The operative times for the three cases were 150, 175, and 162 minutes, respectively, while the LRV anastomosis times were 19, 22, and 13 minutes, respectively. No major perioperative complications were encountered, and the hematuria and flank pain were resolved in all three cases. At the 6-month follow-up, the computed tomography scan showed that the LRV narrowing had disappeared in two of the patients. Although one patient still exhibited LRV flattening, his symptoms were also relieved, and the varicose tributaries spontaneously ceased. CONCLUSIONS: Robot-assisted laparoscopic LRV transposition can be a viable minimally invasive treatment option for patients with nutcracker syndrome.

Genomic identification and functional analysis of essential genes in Caenorhabditis elegans.

BACKGROUND: Essential genes are required for an organism's viability and their functions can vary greatly, spreading across many pathways. Due to the importance of essential genes, large scale efforts have been undertaken to identify the complete set of essential genes and to understand their function. Studies of genome architecture and organization have found that genes are not randomly disturbed in the genome. RESULTS: Using combined genetic mapping, Illumina sequencing, and bioinformatics analyses, we successfully identified 44 essential genes with 130 lethal mutations in genomic regions of C. elegans of around 7.3 Mb from Chromosome I (left). Of the 44 essential genes, six of which were genes not characterized previously by mutant alleles, let-633/let-638 (B0261.1), let-128 (C53H9.2), let-511 (W09C3.4), let-162 (Y47G6A.18), let-510 (Y47G6A.19), and let-131 (Y71G12B.6). Examine essential genes with Hi-C data shows that essential genes tend to cluster within TAD units rather near TAD boundaries. We have also shown that essential genes in the left half of chromosome I in C. elegans function in enzyme and nucleic acid binding activities during fundamental processes, such as DNA replication, transcription, and translation. From protein-protein interaction networks, essential genes exhibit more protein connectivity than non-essential genes in the genome. Also, many of the essential genes show strong expression in embryos or early larvae stages, indicating that they are important to early development. CONCLUSIONS: Our results confirmed that this work provided a more comprehensive picture of the essential gene and their functional characterization. These genetic resources will offer important tools for further heath and disease research.

Bandgap tuning in MoSSe bilayers: synergistic effects of dipole moment and interlayer distance.

From first principles calculations, the lowest energy structures of bilayer MoSSe with different combination patterns (S-S, Se-Se, and S-Se bilayers) have been confirmed. The results demonstrate that the band gap of bilayer MoSSe can be tuned by interlayer distance and dipole moment. A larger interlayer distance increases the band gap, while a larger dipole moment reduces the band gap. That is, the gap is affected by the synergistic effects of dipole moment and interlayer distance in a MoSSe bilayer. Our results provide a new way to realize band gap modulation by changing the dipole moment or the interlayer distance. Impressively, another important finding is that the S-Se bilayer has a type-II band alignment, which makes it a good candidate for applications in optoelectronics.