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Abstract Background Osteoporosis and sarcopenia frequently occur in patients with end-stage renal disease undergoing hemodialysis (HD), and depression is also a common mental health issue in this population. Despite the prevalence of these conditions, the interrelationships among them remain poorly understood in HD patients. Methods In this multicenter cross-sectional study, 858 HD patients from 7 dialysis centers were recruited. Bone mineral density (BMD) was assessed using dual-energy X-ray absorptiometry. Skeletal muscle mass index (SMI) was calculated from body composition data obtained through multifrequency bioimpedance analysis (BIA), while handgrip strength (HGS) was measured with a dynamometer. Gait speed was evaluated with a 4-meter walk test, and depression was assessed using the Patient Health Questionnaire-9 (PHQ-9). Results Among the 858 participants (524 men, 334 women), 39.2% had osteoporosis. The prevalence of sarcopenia and depression was 18.9% and 42.1%, respectively. Logistic regression analysis showed that SMI was significantly associated with a decreased risk of osteoporosis (OR = 0.638, 95% CI = 0.494–0.823, P = 0.001), while HGS was not(OR = 0.990, 95% CI = 0.963–1.017, P = 0.449). HD patients with sarcopenia were 1.92 times more likely to have osteoporosis than those without sarcopenia. Most notably, after adjusting for both sarcopenia and SMI, the risk of osteoporosis in HD patients with depression was 1.45 times higher than in those without depression (OR = 1.452, 95% CI = 1.060–1.989, P = 0.020). Conclusions In HD patients, increased muscle mass, rather than muscle strength, is linked to a lower risk of osteoporosis. Notably, depression emerges as a significant risk factor for osteoporosis in this population, highlighting the need for mental health considerations in managing bone health.

Epicauta sibirica is both an important pest and an important economic insect. The mitogenome is 15,717 bp in length and consists of 13 protein-coding genes, 2 rRNA genes, 22 tRNA genes, and a control region. The nucleotide composition of E. sibirica is 37.0% of A, 18.3% of C, 11.3% of G, and 33.4% of T. The genus Epicauta was detected as a monophyletic group and more closely related to the genus Lytta than other genera within Meloidae. This study supplemented additional genetic data for future research on the phylogeny and evolution of Meloidae species.

Introduction: Depression is a common psychiatric problem in maintenance hemodialysis (MHD) patients. Recent studies have begun to explore the relationship between body composition and depression. Phase angle (PhA), a core parameter for assessing body composition, has been observed to be associated with frailty and cognitive dysfunction. The aim of this study was to investigate the association between PhA and depression in MHD patients. Methods: This multicenter, cross-sectional study included 843 MHD patients from seven dialysis centers in Shanghai, China. Depressive symptoms were evaluated using the Patient Health Questionnaire (PHQ-9), with a score of ≥10 indicating depression. PhA was measured by bioelectrical impedance analysis. Nutritional status was assessed by malnutrition inflammation score (MIS). Multivariable logistic regression models were used to investigate the association between PhA and depression. Restricted cubic spline (RCS) analysis was utilized to examine the association. Receiver operating characteristic curve was used to identify the cut-off value of PhA for depression. Results: A total of 15.2% of patients (62.8% male, median age 66 years) had depression. Median PhA level (interquartile range) of depressed patients was 4.4° (3.9–4.9°) for males and 3.9° (3.2–4.7°) for females. There was a significant decrease in the prevalence of depression with increasing quartiles of PhA levels. In multivariable logistic regression analyses, after adjusting for age, sex, education level, spKt/V, dialysis vintage, Charlson comorbidity index, hemoglobin, and serum albumin, lower PhA levels (lowest quartile group) were significantly associated with depressive symptoms (adjusted odds ratio, 2.19; 95% confidence interval, 1.07 to 4.48), compared to higher PhA levels (highest quartile group). RCS analysis showed a relatively inverse linear association between PhA and depression. The optimal cut-off value of PhA for depression was 4.9° for males and 3.5° for females. Subgroup analyses validated the findings across patient characteristics, including age, sex, diabetes, education, and malnutrition. Conclusion: Our findings indicated an inverse association between PhA and depressive symptoms in Chinese MHD patients, suggesting that PhA could serve as a valuable indicator for assessing the risk of depression in this population. Further studies are needed to explore the potential of PhA as a prognostic tool and its implications for intervention strategies.

ABSTRACT The human microbiome, the community of microorganisms that reside on and inside the human body, is critically important for health and disease. However, it is influenced by various factors and may vary among individuals residing in distinct geographic regions. In this study, 220 samples, consisting of sterile swabs from palmar skin and oral and nasal cavities were collected from Chinese Han individuals living in Shanghai, Chifeng, Kunming, and Urumqi, representing the geographic regions of east, northeast, southwest, and northwest China. The full-length 16S rRNA gene of the microbiota in each sample was sequenced using the PacBio single-molecule real-time sequencing platform, followed by clustering the sequences into operational taxonomic units (OTUs). The analysis revealed significant differences in microbial communities among the four regions. Cutibacterium was the most abundant bacterium in palmar samples from Shanghai and Kunming, Psychrobacter in Chifeng samples, and Psychrobacillus in Urumqi samples. Additionally, Streptococcus and Staphylococcus were the dominant bacteria in the oral and nasal cavities. Individuals from the four regions could be distinguished and predicted based on a model constructed using the random forest algorithm, with the predictive effect of palmar microbiota being better than that of oral and nasal cavities. The prediction accuracy using hypervariable regions (V3-V4 and V4-V5) was comparable with that of using the entire 16S rRNA. Overall, our study highlights the distinctiveness of the human microbiome in individuals living in these four regions. Furthermore, the microbiome can serve as a biomarker for geographic origin inference, which has immense application value in forensic science.IMPORTANCEMicrobial communities in human hosts play a significant role in health and disease, varying in species, quantity, and composition due to factors such as gender, ethnicity, health status, lifestyle, and living environment. The characteristics of microbial composition at various body sites of individuals from different regions remain largely unexplored. This study utilized single-molecule real-time sequencing technology to detect the entire 16S rRNA gene of bacteria residing in the palmar skin, oral, and nasal cavities of Han individuals from four regions in China. The composition and structure of the bacteria at these three body sites were well characterized and found to differ regionally. The results elucidate the differences in bacterial communities colonizing these body sites across different regions and reveal the influence of geographical factors on human bacteria. These findings not only contribute to a deeper understanding of the diversity and geographical distribution of human bacteria but also enrich the microbiome data of the Asian population for further studies.

Abstract Microorganisms are essential in the decomposition of corpses and play a significant role in forensic science. However, previous studies have primarily focused on animal remains, specifically the gut, skin, and burial environment. Insufficient research has been conducted on the microbiota of human cadavers, especially in cases of advanced decomposition and additional tissues, resulting in a lack of relevant reference data. In this study, the microbiota of eight cadavers at different stages of decomposition were detected using 16S rRNA, metagenomic sequencing and 2bRAD-M sequencing. Nine different sites, including oral and nasal cavities, heart, liver, spleen, lung, kidney, muscle and gut, were analysed and the efficacy of these methods was evaluated. The results showed that 16S rRNA sequencing was the most cost-effective method for the study of cadavers in the early stages of decomposition, whereas for cadaveric tissues in the late stages of decomposition, 2bRAD-M could overcome host contamination more effectively than metagenomic sequencing. This paves the way for new opportunities in data retrieval and promotes in-depth investigations into the microbiota.

IntroductionMitochondrial DNA (mtDNA) has been extensively utilized in archeology, human evolutionary genetics, and forensic genetic for over three decades, primarily due to its maternal inheritance and relatively high mutation rate. The Chinese Han, the largest and most widely distributed ethnic group in China, have been the focus of numerous genetic studies. However, the forensic parameters and genetic structure of the Shandong Han, specifically in relation to the whole mitochondrial genome, remain undocumented.MethodsWe performed whole mitochondrial genome sequencing on 141 unrelated Han individuals from Shandong province using massively parallel sequencing.ResultsA total of 135 unique mtDNA haplotypes were identified, classified into 105 haplogroups, resulting in a haplotype diversity value of 0.9993. The discriminatory capacity of whole mitochondrial genome was calculated at 0.9574, compared to 0.8936 when only the control region was analyzed. The majority of the haplogroups observed were specific to East Asian lineages, including D4, D5 and F1. Population comparisons revealed that the modern Shandong Han share genetic connections with ancient populations from the Yellow River and West Liao River basins. Additionally, the Shandong Han may have integrated a significant number of maternal lineages from other regions during their development. The demographic expansion of the Shandong Han is estimated to have occurred approximately 9,000 years ago, corresponding to the Neolithic period, a time of significant cultural and technological development.DiscussionThe dataset generated in this study is available in the EMPOP database under the accession number EMP00886 and will serve as an important mtDNA reference for forensic casework in China. The study of whole mitochondrial genome based on the analysis of matrilineal genetic structure of the Shandong Han population can help to enrich the forensic mtDNA reference database in East Asia and provide reference for future archeology and forensic genetics research.

IntroductionMultiple linked single nucleotide polymorphisms (SNPs) have shown potential in personal identification and mixture detection. However, the limited number of marker and sequencing errors have obstructed accurate DNA typing.MethodsTo develop more candidate loci, the diversity value (D-value) was introduced as a new parameter for screening the novel polymorphic multiple linked-SNP markers, referred to as multi-SNP. In this study, a “FD Multi-SNP Mixture Kit” comprising 567 multi-SNPs was developed for mixture detection. Additionally, a new computational error correction method was applied as a quality control approach for sequencing data.ResultsThe results demonstrated higher typing success rates than the conventional CE typing method. For single-source DNA, approximately 70–80 loci were detected with a DNA input of 0.009765625 ng. More than 65% of the minor alleles were distinguishable at 1 ng DNA with a frequency of 0.5% in 2- to 4-person mixtures.ConclusionThis study offers a polymorphic and high-resolution detection method for DNA genotyping and complex mixture detection, providing an alternative strategy for addressing challenging mixed DNA traces.

Background The correlation between hearing loss (HL) and physical performance in patients receiving maintenance hemodialysis (MHD) remains poorly investigated. This study explored the association between HL and physical performance in patients on MHD. Methods This multicenter cross-sectional study was conducted between July 2020 and April 2021 in seven hemodialysis centers in Shanghai and Suzhou, China. The hearing assessment was performed using pure-tone average (PTA). Physical performance was assessed using the Timed Up and Go Test (TUGT), handgrip strength, and gait speed. Results Finally, 838 adult patients (male, 516 [61.6%]; 61.2 ± 2.6 years) were enrolled. Among them, 423 (50.5%) had mild to profound HL (male, 48.6% and female, 53.4%). Patients with HL had poorer physical performance than patients without HL (p < 0.001). TUGT was positively correlated with PTA (r = 0.265, p < 0.001), while handgrip strength and gait speed were negatively correlated with PTA (r = –0.356, p < 0.001 and r = –0.342, p < 0.001, respectively). Physical performance in patients aged

Abstract The testes are the organs of gamete production and testosterone synthesis. Up to date, no model system is available for mammalian testicular development, and only few studies have characterized the mouse testis transcriptome from no more than three postnatal ages. To describe the transcriptome landscape of the developing mouse testis and identify the potential molecular mechanisms underlying testis maturation, we examined multiple RNA-seq data of mouse testes from 3-week-old (puberty) to 11-week-old (adult). Sperm cells appeared as expected in 5-week-old mouse testis, suggesting the proper sample collection. The principal components analysis revealed the genes from 3w to 4w clustered away from other timepoints, indicating they may be the important nodes for testicular development. The pairwise comparisons at two adjacent timepoints identified 7,612 differentially expressed genes (DEGs), resulting in 58 unique mRNA expression patterns. Enrichment analysis identified functions in tissue morphogenesis (3-4w), regulation of peptidase activity (4-5w), spermatogenesis (7-8w), and antigen processing (10-11w), suggesting distinct functions in different developmental periods. 50 hub genes and 10 gene cluster modules were identified in the testis maturation process by protein-protein interaction (PPI) network analysis, and the miRNA-lncRNA-mRNA, miRNA-circRNA-mRNA and miRNA-circRNA-lncRNA-mRNA competing endogenous RNA (ceRNA) networks were constructed. The results suggest that testis maturation is a complex developmental process modulated by various molecules, and that some potential RNA-RNA interactions may be involved in specific developmental stages. In summary, this study provides an update on the molecular basis of testis development, which may help to understand the molecular mechanisms of mouse testis development and provide guidance for mouse reproduction.

Abstract Physical performance in hemodialysis patients declines and serves as a cardiovascular disease (CVD) incidence and mortality predictor. However, lower extremity function's role remains unclear. This study aimed to quantify the association between lower extremity function and CVD risk in hemodialysis patients. This was a multicenter cross‐sectional study enrolling 868 participants (532 males, 336 females) from seven hemodialysis centers in Shanghai, China. Patients were divided into three groups per lower extremity function, evaluated by short physical performance battery (SPPB) scores: 0–6, 7–9, and 10–12. Upper extremity function was quantified through grip strength assessment. CVD risk was assessed using the Framingham Risk Score. Approximately 35% of hemodialysis patients had impaired lower extremity function (SPPB score

ABSTRACT The skin microbiome plays a pivotal role in human health by providing protective and functional benefits. Furthermore, its inherent stability and individual specificity present novel forensic applications. These aspects have sparked considerable research enthusiasm among scholars across various fields. However, the selection of specific 16S rRNA hypervariable regions for skin microbiome studies is not standardized and should be validated through extensive research tailored to different research objectives and targeted bacterial taxa. Notably, third-generation sequencing (TGS) technology leverages the full discriminatory power of the 16S gene and enables more detailed and accurate microbial community analyses. Here, we conducted full-length 16S sequencing of 141 skin microbiota samples from multiple human anatomical sites using the PacBio platform. Based on this data, we generated derived 16S sub-region data through an in silico experiment. Comparisons between the 16S full-length and the derived variable region data revealed that the former can provide superior taxonomic resolution. However, even with full 16S gene sequencing, limitations arise in achieving 100% taxonomic resolution at the species level for skin samples. Additionally, the capability to resolve high-abundance bacteria (TOP30) at the genus level remains generally consistent across different 16S variable regions. Furthermore, the V1-V3 region offers a resolution comparable with that of full-length 16S sequences, in comparison to other hypervariable regions studied. In summary, while acknowledging the benefits of full-length 16S gene analysis, we propose the targeting of specific sub-regions as a practical choice for skin microbial research, especially when balancing the accuracy of taxonomic classification with limited sequencing resources, such as the availability of only short-read sequencing or insufficient DNA.IMPORTANCESkin acts as the primary barrier to human health. Considering the different microenvironments, microbial research should be conducted separately for different skin regions. Third-generation sequencing (TGS) technology can make full use of the discriminatory power of the full-length 16S gene. However, 16S sub-regions are widely used, particularly when faced with limited sequencing resources including the availability of only short-read sequencing and insufficient DNA. Comparing the 16S full-length and the derived variable region data from five different human skin sites, we confirmed the superiority of the V1-V3 region in skin microbiota analysis. We propose the targeting of specific sub-regions as a practical choice for microbial research.

Objective To determine the prevalence of cognitive impairment (CI) among middle-aged to older patients receiving maintenance haemodialysis (MHD) and to investigate the potential association between CI and physical performance. Methods This cross-sectional observational study enrolled participants aged 55–85 years who received MHD. Cognitive status was assessed using the Mini Mental State Examination (MMSE). Physical performance was measured by hand grip strength, the Timed Up and Go Test (TUGT) and the 4-m walking speed. Sociodemographic, clinical and laboratory parameters were recorded for each patient. Results The study included 592 patients (363 males); and of these, 126 (21.3%) were diagnosed with CI. Compared with patients with normal cognitive function, those with CI were significantly older and had significantly longer dialysis duration, lower educational level, higher Malnutrition Inflammation Score, higher depression and higher Charlson Comorbidity Index score. After adjustment for covariates, multiple regression analysis suggested that grip strength (odds ratio [OR] = 0.959, 95% confidence interval [CI] = 0.924, 0.996) and 4-m walking speed (OR = 0.161, 95% CI = 0.070, 0.368) were protective factors. TUGT (OR = 1.037, 95%CI = 1.003, 1.071) was a risk factor. Conclusion Physical performance was correlated with CI and might be a significant indicator for the early identification of CI in middle-aged to older MHD patients.

Abstract Introduction Chronic kidney disease-mineral and bone disorder (CKD-MBD) is characterized by bone abnormalities, vascular calcification, and some other complications. Although there are diagnostic criteria for CKD-MBD, in situations when conducting target feature examining are unavailable, there is a need to investigate and discover alternative biochemical criteria that are easy to obtain. Moreover, studying the correlations between the newly discovered biomarkers and the existing ones may provide insights into the underlying molecular mechanisms of CKD-MBD. Methods We collected a cohort of 116 individuals, consisting of three subtypes of CKD-MBD: calcium abnormality, phosphorus abnormality, and PTH abnormality. To identify the best biomarker panel for discrimination, we conducted six machine learning prediction methods and employed a sequential forward feature selection approach for each subtype. Additionally, we collected a separate prospective cohort of 114 samples to validate the discriminative power of the trained prediction models. Results Using machine learning under cross validation setting, the feature selection method selected a concise biomarker panel for each CKD-MBD subtype as well as for the general one. Using the consensus of these features, best area under ROC curve reached up to 0.95 for the training dataset and 0.74 for the perspective dataset, respectively. Discussion/Conclusion For the first time, we utilized machine learning methods to analyze biochemical criteria associated with CKD-MBD. Our aim was to identify alternative biomarkers that could serve not only as early detection indicators for CKD-MBD, but also as potential candidates for studying the underlying molecular mechanisms of the condition.

Abstract Background In recent years, biosafety and green food safety standards have increased the demand for immune enhancers and adjuvants. In the present study, recombinant food-grade Lactococcus lactis (r-L. lactis-Tα1-IFN) expressing thymosin Tα1 and chicken interferon fusion protein was constructed. Results The in vitro interactions with macrophages revealed a mixture of recombinant r-L. lactis-Tα1-IFN could significantly activate both macrophage J774-Dual™ NF-κB and interferon regulator (IRF) signaling pathways. In vitro interactions with chicken peripheral blood mononuclear cells (PBMCs) demonstrated that a mixture of recombinant r-L. lactis-Tα1-IFN significantly enhanced the expression levels of interferon (IFN)-γ, interleukin (IL)-10, CD80, and CD86 proteins in chicken PBMCs. Animal experiments displayed that injecting a lysis mixture of recombinant r-L. lactis-Tα1-IFN could significantly activate the proliferation of T cells and antigen-presenting cells in chicken PBMCs. Moreover, 16S analysis of intestinal microbiota demonstrated that injection of the lysis mixture of recombinant r-L. lactis-Tα1-IFN could significantly improve the structure and composition of chicken intestinal microbiota, with a significant increase in probiotic genera, such as Lactobacillus spp. Results of animal experiments using the lysis mixture of recombinant r-L. lactis-Tα1-IFN as an immune adjuvant for inactivated chicken Newcastle disease vaccine showed that the serum antibody titers of the experimental group were significantly higher than those of the vaccine control group, and the expression levels of cytokines IFN-γ and IL-2 were significantly higher than those of the vaccine control group. Conclusion These results indicate that food-safe recombinant r-L. lactis-Tα1-IFN has potential as a vaccine immune booster and immune adjuvant. This study lays the foundation for the development of natural green novel animal immune booster or immune adjuvant.

Abstract Background Pheochromocytoma (PCC) crisis is a rare life-threatening endocrine emergency. The diagnosis and treatment of PCC crisis, with acute respiratory distress syndrome (ARDS) as the first manifestation, is highly challenging, and traditional PCC management strategies are no longer suitable for these patients. Case presentation A 46-year-old female patient was admitted to the Intensive Care Unit (ICU) following sudden-onset acute respiratory distress and subsequent initiation of mechanical ventilation via endotracheal intubation. She was initially suspected of having a PCC crisis through the bedside critical care ultrasonic examination protocol. The computed tomography examination revealed a left adrenal neoplasm of 6.5cm × 5.9cm. The plasma-free metanephrine level was 100 times higher than the reference value. These findings were compatible with her PCC diagnosis. Alpha-blockers and fluid intake were started immediately. The endotracheal intubation was removed on the 11th day after admission to the ICU. The patient progressed to severe ARDS again, and invasive ventilation and continuous renal replacement therapy were needed. Despite aggressive therapy, her condition deteriorated. Therefore, she underwent veno-arterial extracorporeal membrane oxygenation (VA-ECMO)-assisted emergency adrenalectomy after multidisciplinary discussion. Postoperatively, the patient was supported by VA-ECMO for 7days. She was discharged from the hospital on day 30 after tumor resection. Conclusions This case highlighted the challenges in diagnosing and managing ARDS associated with PCC crisis. The traditional preoperative preparation protocol and optimal operation timing for patients with PCC are not suitable for patients with PCC crisis. Patients with life-threatening PCC crisis may benefit from early tumor removal, and VA-ECMO could maintain hemodynamic stability during and after surgery.

Usually, it is difficult to achieve satisfactory fire retardancy of epoxy resin (EP) at low addition by adding inorganic nano-fillers alone. Herein, sepiolite nanofibers loaded with layered double metal hydroxide (a-SEP@LDH) and phosphorus/nitrogen-containing flame retardant nanosheets (PAMA) were prepared via hydrothermal method, respectively. The UL-94 V-0 rating and an limiting oxygen index (LOI) value of 31.6% were achieved for EP by loading 1 wt% a-SEP@LDH and 2 wt% PAMA. Compared to adding sole a-SEP@LDH, the thermal stability of EP/a-SEP@LDH/PAMA3 was improved significantly, the total heat release (THR) and peak heat release rate (pHRR) decreased by 10.2 and 28.8%, respectively. Additionally, the total CO2 production decreased by 12.5% and the char residue yield increased to 19.9 wt%. Moreover, the tensile strength and impact strength of the EP composites were remarkably improved owing to the incorporation of PAMA. To sum up, this work provides an environmentally benign, low-cost and efficient way for EP to achieve outstanding fire retardance, thermal stability and high mechanical properties at a low addition.

Tomato spotted wilt orthotospovirus (TSWV) is one of the most destructive pathogens and causes serious losses in agriculture worldwide. Biogenic pesticides application may be an effective approach for defending against TSWV. Tagitinin A (Tag A) extracted from Tithonia diversifolia (Hemsl.) A. Gray has a high protective effect against TSWV infection. Tag A can induce jasmonic acid to suppress gene expression in TSWV. In this study, the F-box protein (CPR30) was mediated by Tag A, the expression of the CPR30 gene in Tag A-treated leaves was significantly higher (2 times) than that of the negative control. Furthermore, the replication of TSWV-NSm/NSs genes and the expression of TSWV-NSm/NSs proteins significantly increased after silencing the CPR30 gene in protective assays; CPR30 overexpression showed the opposite tendency. The CPR30 protein only localized and interacted with the TSWV-NSm protein. Thus, this study reveals a new mechanism by which Tag A mediates ubiquitin-protein ligase E3 (CPR30) to interact with NSm inhibite NSm replication and expression, and defend against systemic TSWV infection.

Abstract Purpose To compare morphological changes in the anterior capsule of two intraocular lenses (IOLs) with different anterior edge designs 6 months after femtosecond laser-assisted capsulotomy surgery (FLACs). Methods This study included 168 eyes from168 patients undergoing FLACs. Group A included 74 eyes from 74 patients who had an Acrysof IQ Restor SN6AD3 IOL implantation with a flat anterior edge and Group B included 94 eyes of 94 patients with a TECNIS Multifocal ZMB00 IOL implantation and a "peak-like" anterior edge. All patients were followed up for 6 months. We assessed anterior capsule morphological changes including variation of anterior opening diameters and lens epithelial cell (LEC) proliferation in four directions, variation of anterior opening area, and the level of anterior capsule opacification (ACO). Results Variation of anterior opening diameters in 4 directions were significantly lower in Group B (P

In this research, oat resistant starch (ORS) was prepared by autoclaving-retrogradation cycle (ORS-A), enzymatic hydrolysis (ORS-B), and ultrasound combined enzymatic hydrolysis (ORS-C). Differences in their structural features, physicochemical properties and digestive properties were studied. Results of particle size distribution, XRD, DSC, FTIR, SEM and in vitro digestion showed that ORS-C was a B + C-crystal, and ORS-C had a larger particle size, the smallest span value, the highest relative crystallinity, the most ordered and stable double helix structure, the roughest surface shape and strongest digestion resistance compared to ORS-A and ORS-B. Correlation analysis revealed that the digestion resistance of ORS-C was strongly positively correlated with RS content, amylose content, relative crystallinity and absorption peak intensity ratio of 1047/1022 cm−1 (R1047/1022), and weakly positively correlated with average particle size. These results provided theoretical support for the application of ORS-C with strong digestion resistance prepared by ultrasound combined enzymatic hydrolysis in the low GI food application.

BackgroundThe purpose of this study is to establish a novel nomogram model for accurate detection of non-alcoholic fatty liver disease (NAFLD) in the Chinese population based on sex hormone binding globulin (SHBG) and other routine laboratory tests.MethodsA total of 1417 participants (1003 testing and 414 validations) were enrolled into the study. Risk factors independently associated with NAFLD were identified and incorporated in the new nomogram, SFI. The performance of nomogram was assessed by analysis of receiver operating characteristic (ROC) curve, calibration curve, and decision curve.ResultsWe formulated a new nomogram incorporating four independent factors: SHBG, body mass index (BMI), ALT/AST, and triglycerides (TG). The nomogram achieved good indexes of area under ROC 0.898 (95% confidence interval 0.865–0.926) in predicting NAFLD, which was significantly superior to previously reported models of FLI, HSI, LFS, and LAP. The calibration curve and decision curve demonstrated high performance and clinical utility of the nomogram in predicting NAFLD.ConclusionThe nomogram SFI has high performance in predicting NAFLD in Chinese population and may be used as a cost-effective screening model to assess NAFLD in the general population.

Abstract Background People live a long time in pre-diabetes/early diabetes without a formal diagnosis or management. Heterogeneity of progression coupled with deficiencies in electronic health records related to incomplete data, discrete events, and irregular event intervals make identification of pre-diabetes and critical points of diabetes progression challenging. Methods We utilized longitudinal electronic health records of 9298 patients with type 2 diabetes or prediabetes from 2005 to 2016 from a large regional healthcare delivery network in China. We optimized a generative Markov-Bayesian-based model to generate 5000 synthetic illness trajectories. The synthetic data were manually reviewed by endocrinologists. Results We build an optimized generative progression model for type 2 diabetes using anchor information to reduce the number of parameters learning in the third layer of the model from $$O\left(N\times W\right)$$ O N × W to $$O\left((N-C)\times W\right)$$ O ( N - C ) × W , where $$N$$ N is the number of clinical findings, $$W$$ W is the number of complications, $$C$$ C is the number of anchors. Based on this model, we infer the relationships between progression stages, the onset of complication categories, and the associated diagnoses during the whole progression of type 2 diabetes using electronic health records. Discussion Our findings indicate that 55.3% of single complications and 31.8% of complication patterns could be predicted early and managed appropriately to potentially delay (as it is a progressive disease) or prevented (by lifestyle modifications that keep patient from developing/triggering diabetes in the first place). Conclusions The full type 2 diabetes patient trajectories generated by the chronic disease progression model can counter a lack of real-world evidence of desired longitudinal timeframe while facilitating population health management.

Proprotein convertase subtilisin kexin type 9 (PCSK9) is a well-known proprotein convertase that influences foam cell formation and modulates atherosclerosis. Inclisiran is a novel chemosynthetic small interfering RNA that inhibits PCSK9 synthesis. This study aimed to explore the effect of inclisiran on oxidized low-density lipoprotein (ox-LDL)-induced foam cell formation in Raw264.7 macrophages and to investigate the underlying mechanisms. Raw264.7 cells were treated with ox-LDL to induce the formation of macrophage-derived foam cells. Oil Red O staining and high-performance liquid chromatography were performed to detect lipid accumulation and cholesterol levels. Dil-ox-LDL uptake assay, CCK-8, RT-qPCR, and Western blotting analysis were performed to examine ox-LDL uptake, cell viability, and expression of scavenger receptor-related factors. Inclisiran reduced lipid accumulation in ox-LDL-treated macrophages in a dose-dependent manner. Inclisiran significantly inhibited the levels of total cholesterol, free cholesterol, and cholesterol ester in the supernatant of Raw264.7 cells. Inclisiran reduced ox-LDL uptake and increased Raw264.7 cell viability. Meanwhile, inclisiran downregulated the expression of SR-A, LOX-1, and CD36 and upregulated SR-BI, ApoE, and ABCA1. Furthermore, inclisiran increased PPARγ activity and decreased NF-κB activity. An inhibitor of PPARγ (T0070907) reversed the beneficial effects of inclisiran on ox-LDL uptake, NF-κB inactivation, and cytokine expression. In conclusion, these data suggested that inclisiran inhibited the formation of macrophage-derived foam cells by activating the PPARγ pathway.Highlights Inclisiran reduces lipid accumulation in Raw264.7 cells; Inclisiran reduces ox-LDL uptake and increases Raw264.7 cell viability; Inclisiran inhibits foam cell formation by activating the PPARγ pathway.

Mutations might challenge the paternity index calculation in forensic identification. While many studies have focussed on the autosomal short tandem repeats (A-STR), the mutation status of sex chromosomes and single nucleotide polymorphism (SNP) remain blank. Next generation sequencing (NGS), known as high throughput and large sequence polymorphism, is a promising tool for forensic genetics. To describe the mutation landscapes in the paternity cases with genetic inconsistencies, a total of 63 parentage confirmed paternity cases contained at least one mismatched locus have been collected. The mutations were subsequently evaluated using Verogen’s MPS ForenSeqTM DNA Signature Kit and a microsatellite instability (MSI) detection kit. The result showed 98.41% (62/63) of the cases had no additional autosomal mutations even when the number of A-STRs increased to 27. As for the sex chromosomes, about 11.11% (7/63) of the cases exhibited either X-STR or Y-STR mutations. D2S1338, FGA and Penta E were the most frequent altered STRs, which suggested they might be the mutation hotspots. In addition, a male with sex chromosome abnormality was observed accidently, whose genotype might be 47, XXY, rather than MSI. Nearly 56.90% of the STR loci possessed isoalleles, which might result in higher STR polymorphisms. No Mendelian incompatibility was detected among the SNP markers, which indicated that SNP was a more reliable genetic marker in the genetic-inconsistent paternity cases.Supplemental data for this article is available online at https://doi.org/10.1080/20961790.2021.2009631 .

Income inequality is a good indicator reflecting the quality of people’s livelihood. There are many studies on the determinants of income inequality. However, few studies have been conducted on the impacts of industrial agglomeration on income inequality and their spatial correlation. The goal of this paper is to investigate the impact of China’s industrial agglomeration on income inequality from a spatial perspective. Using data on China’s 31 provinces from 2003 to 2020 and the spatial panel Durbin model, our results show that industrial agglomeration and income inequality present an inverted “U-shape” relationship, proving that they are the non-linear change. As the degree of industrial agglomeration increases, income inequality will rise, after it reaches a certain value, income inequality will drop. Therefore, Chinese government and enterprises had better pay attention to the spatial distribution of industrial agglomeration, thereby reducing China’s regional income inequality.

Background Karyotyping and genome copy number variation sequencing (CNV-seq) are two techniques frequently used in prenatal diagnosis. This study aimed to explore the diagnostic potential of using a combination of these two methods in order to provide a more accurate clinical basis for prenatal diagnosis. Methods We selected 822 pregnant women undergoing amniocentesis and separated them into six groups according to different risk indicators. Karyotyping and CNV-seq were performed simultaneously to compare the diagnostic performance of the two methods. Results Among the different amniocentesis indicators, abnormal fetal ultrasounds accounted for 39.29% of the total number of examinees and made up the largest group. The abnormal detection rate of non-invasive prenatal testing (NIPT) high risk was 37.93% and significantly higher than the other five groups (P

Rheumatoid arthritis (RA) is a chronic inflammatory disease related to abnormal activation of fibroblast-like synovium cells (FLS) with apoptosis, inflammation, and oxidative damage. Circular RNA Sirt1 (circ-Sirt1) is an abundant circRNA, exerts the function in inhibiting inflammation. However, little is known about the roles of circ-Sirt1, if any, in RA. The present study aimed to investigate the biological roles and mechanism of circ-Sirt1 on cell inflammation in RA-FLS MH7A cell line. This study showed circ-Sirt1 inhibited the proliferation and induced apoptosis of MH7A cells. Overexpression of circ-Sirt1 decreased of the levels of interleukin (IL)-1β and IL-6, tumour necrosis factor (TNF)-α, and matrix matalloproteinases (MMP)-1 and MMP-3 in MH7A cells. In addition, overexpression of circ-Sirt1 increased the expression of Sirt1, Nrf2, HO-1, IκBα, GCLC and GCLM, and decreased the ratio of acetylated NF-κB to normal NF-κB, and the expression of AP-1, COX-2 and HMGB1. Moreover, the expression of Keap1 and the ratio of acetylated NF-κB to normal NF-κB were partially increased and the Nrf2 and Sirt1 were partially reduced by siSirt1. Additionally, circ-Sirt1 overexpression promoted the activation of Sirt1 signal pathways by upregulating miR-132. In conclusion, the protective effect of Circ-Sirt1 on MH7A depends on inhibiting cell proliferation, promoting apoptosis and miR-132-mediated Sirt1 pathway to reduce inflammation.

Purpose: In this retrospective study, the efficacy of the FEMTO LDV Z8 Femtosecond Laser-Assisted Cataract Surgery (Femto Z8 FLACS) and the Femtosecond laser Arcuate Keratotomy (FSAK) in decreasing the corneal astigmatism was investigated.Methods: During FLACS, FSAK was positioned with the help of the FEMTO LDV Z8 laser at a diameter of 8.5 mm and an 80% depth. Before and 3 months after surgery, the astigmatism of the cornea was measured with the aid of Pentacam. The variables influencing the efficacy of FSAK were assessed using the multiple regression analysis technique. Vector analyses were carried out. To determine the net corneal alterations, the with-the-wound and against-the-wound variations were computed along the FSAKs’ meridian.Results: This study investigated 80 eyes from 62 participants. The average keratometric astigmatism value was 0.92 ± 0.44 diopters (D). The average keratometric astigmatism decreased to 0.61 ± 0.45 D 3 months following FSAK compared to preoperative corneal astigmatism (p < 0.05). Additionally, there was a considerable decline in the percentage of eyes with ±0.5 D and ±1.0 D astigmatism, which reduced 3 months after surgery by 58% and 85%, respectively (p < 0.05).Conclusion: The FEMTO LDV Z8 laser can create an effective and precise arcuate keratotomy with an excellent safety profile, rapid recovery, and vision stability.

BackgroundMalnutrition, dynapenia, and sarcopenia are prevalent conditions among patients with maintenance hemodialysis (MHD). They are related to numerous adverse health outcomes. The aim of this study was to compare the effect of three nutritional screening tools on predicting the risk of dynapenia and sarcopenia in patients with MHD.MethodsFrom July 2020 to April 2021, a total of 849 patients with MHD were enrolled at seven different healthcare facilities in Shanghai, China in this multi-center cross-sectional study. Geriatric nutritional risk index (GNRI), malnutrition inflammation score (MIS), and creatinine (Cr) index were used for nutritional assessment. The cutoff values of muscle mass and strength to define dynapenia, pre-sarcopenia, and sarcopenia were based on the consensus by the Asia Working Group of Sarcopenia in 2019.ResultsAmong 849, almost 60% were malnourished with the majority suffering from dynapenia (27.7%), followed by sarcopenia (22.7%), and pre-sarcopenia (6.2%).The area under the receiver–operating characteristic curve for GNRI was 0.722 [95% confidence interval (CI) = 0.684–0.760] and 0.723 (95% CI = 0.663–0.783) in predicting sarcopenia and pre-sarcopenia. The GNRI [odds ratio (OR) =6.28, 95% CI: 4.05–9.73], MIS (OR =1.91, 95% CI: 1.31–2.78), and the Cr index (OR =2.73, 95% CI: 1.71–4.34) were all significantly associated with the risk of sarcopenia. More importantly, the sarcopenia predictability of the GNRI appears greater than the MIS and Cr index, while MIS was similar to the Cr index. Similarly, the superiority of GNRI prediction was also found in pre-sarcopenia, but not in dynapenia.ConclusionAll the three nutritional screening tools were significantly associated with an increased risk of sarcopenia. The sarcopenia predictability of the GNRI was greater than the MIS and Cr index.

Novel genetic marker microhaplotype has led to an upsurge in forensic genetic research. This study established a 163 microhaplotype (MH) multiplex assay based on next-generation sequencing (NGS) and evaluated the assay’s performance and applicability. Our results showed that the 163 MH assay was accurate, repeatable and reliable, and could distinguish between African, European-American, Southern Asia and Eastern Asia populations. Among the 163 MH makers, 48 MHs with Ae > 3.0 in China Eastern Han were selected and confirmed to be highly polymorphic, with a combined power of discrimination of 1–8.26 × 10–44 and the combined power of exclusion in duos and trios of 1–1.26 × 10–8 and 1–8.27 × 10–16, respectively. Moreover, the mixture study demonstrated the realizability of the MHs in deconvoluting mixtures with different proportions of two to five-person. In conclusion, our findings support the use of this MH assay for ancestry inference, human identification, paternity testing and mixture deconvolution in forensic research.

PurposeThis study aimed to develop a deep learning model to generate a postoperative corneal axial curvature map of femtosecond laser arcuate keratotomy (FLAK) based on corneal tomography using a pix2pix conditional generative adversarial network (pix2pix cGAN) for surgical planning.MethodsA total of 451 eyes of 318 nonconsecutive patients were subjected to FLAK for corneal astigmatism correction during cataract surgery. Paired or single anterior penetrating FLAKs were performed at an 8.0-mm optical zone with a depth of 90% using a femtosecond laser (LenSx laser, Alcon Laboratories, Inc.). Corneal tomography images were acquired from Oculus Pentacam HR (Optikgeräte GmbH, Wetzlar, Germany) before and 3 months after the surgery. The raw data required for analysis consisted of the anterior corneal curvature for a range of ± 3.5 mm around the corneal apex in 0.1-mm steps, which the pseudo-color corneal curvature map synthesized was based on. The deep learning model used was a pix2pix conditional generative adversarial network. The prediction accuracy of synthetic postoperative corneal astigmatism in zones of different diameters centered on the corneal apex was assessed using vector analysis. The synthetic postoperative corneal axial curvature maps were compared with the real postoperative corneal axial curvature maps using the structural similarity index measure (SSIM) and peak signal-to-noise ratio (PSNR).ResultsA total of 386 pairs of preoperative and postoperative corneal tomography data were included in the training set, whereas 65 preoperative data were retrospectively included in the test set. The correlation coefficient between synthetic and real postoperative astigmatism (difference vector) in the 3-mm zone was 0.89, and that between surgically induced astigmatism (SIA) was 0.93. The mean absolute errors of SIA for real and synthetic postoperative corneal axial curvature maps in the 1-, 3-, and 5-mm zone were 0.20 ± 0.25, 0.12 ± 0.17, and 0.09 ± 0.13 diopters, respectively. The average SSIM and PSNR of the 3-mm zone were 0.86 ± 0.04 and 18.24 ± 5.78, respectively.ConclusionOur results showed that the application of pix2pix cGAN can synthesize plausible postoperative corneal tomography for FLAK, showing the possibility of using GAN to predict corneal tomography, with the potential of applying artificial intelligence to construct surgical planning models.

Objective:The purpose of this study was to determine the association between different stages of chronic kidney disease (CKD) and sarcopenia and its components in the Chinese older population.MethodsThe study comprised of 2,213 participants aged ≥ 60 years (1,025 men; mean age: 70.7 years) recruited from Shanghai who were invited to participate in a comprehensive geriatric assessment. Sarcopenia was defined according to the AWGS 2019 consensus update on sarcopenia diagnosis criteria. The glomerular filtration rate (GFR) was estimated using the equation that originated from the CKD-EPI equation, the stages of CKD are classified according to the Kidney Disease—Improving Global Outcomes (KDIGO).ResultsThe overall prevalence of sarcopenia was 19.0%, which increased with the severity of CKD. The prevalence of sarcopenia in patients with CKD 3–4 and kidney failure was significantly higher than that in normal and CKD 1–2 (p < 0.05). In logistic regression analysis model, compared with normal and CKD 1 patients, kidney failure was significantly associated with the increased risk of sarcopenia and low grip strength (p < 0.05); CKD 2, CKD 3–4 and kidney failure groups were significantly associated with an increased risk of low walking speed (p < 0.05), respectively; while the association between CKD and muscle mass was not shown.ConclusionsIn our study, only decreased physical performance, as represented by walking speed, was significantly associated with increased CKD severity. This may improve the evidence for the prevention and intervention of sarcopenia in patients with CKD.

With the development and maturation of massively parallel sequencing (MPS) technology, the mitochondrial genome (mitogenome) sequencing is increasingly applied in the forensic field. In this study, we employed the strategy of short overlapping amplicons for the whole mitogenome, library preparation with tagmentation using the Nextera® XT DNA Library Preparation Kit, sequencing on the MiSeq FGxTM Forensic Genomics System and analyzing data using the mitochondrial(mtDNA) MSR Plug-in and the mtDNA Variant Analyzer. A total of 27 libraries and 56 libraries were sequenced in a run using MiSeq Reagent Kit v2 and v3, respectively. Results showed more than 1800 × of averaged depth of coverage (DoC) at each position. Concordant haplotypes of 9947 A and 2800 M were obtained at 32 variants. Cross-reactivity was observed with 1 ng primate DNA and 10 ng non-primate DNA but could be easily distinguished. Full and accurate variants were obtained from at least 50 pg input DNA and from minor contributors between 19:1 and 1:19 mixed ratios with known reference profiles. More than 86% variants were detected from ≥200-bp degraded samples but its haplotype was assigned to more ancestral haplogroup. Further, a total of 3 962 variants were observed at 613 nucleotide positions from 103 Xibe mitogenomes with 25:1 ratio of transitions to transversions. Two new transversions (C13735A and A14755C) and two tri-alleles at nps 9824 and 16092 were identified. There were 103 unique mitogenome haplotypes from 103 Chinese Xibe that were assigned to 79 haplogroups. Haplogroup D was the preponderant top-level haplogroup in Xibe followed by F, B, M, A, N, G, C, Z, Y, HV and J. Random match probability (RMP) and haplotype diversity (HD) of the whole mitogenome was calculated as 0.0097 and 1.0000, respectively. Compared with HVS-I only, RMP decreased 33.56%, while the number of haplotypes and HD increased 15.73% and 0.49%, respectively. Principal component analysis (PCA) showed that Xibe was clustered to East and Southeast Asian. As a whole, this MPS strategy is suitable for the whole mitogenome sequencing especially for degraded samples and can facilitate generating mitogenome data to support the routine application in forensic sciences. EMP00726 is the first whole mitogenome dataset from Xibe contributed to the EMPOP.

Insertion/deletion polymorphisms (InDels) have been treated as a prospective and helpful genetic marker in the fields of forensic human identification, anthropology and population genetics for the past few years. In this study, we developed a six-dye multiplex typing system consisting of 34 autosomal InDels and Amelogenin for forensic application. The contained InDels were specifically selected for Chinese population with the MAF ≥ 0.25 in East Asia, which do not overlap with the markers of Investigator® DIPplex kit. The typing system was named as GoldeneyeTM DNA ID System 35InDel Kit, and a series of developmental validation studies including repeatability/reproducibility, concordance, accuracy, sensitivity, stability, species specificity and population genetics were conducted on this kit. We confirmed that the 35InDel kit is precise, sensitive, species specific and robust for forensic practice. Moreover, the 35InDel kit is capable of typing DNA extracted from forensic routine case-type samples as well as degraded samples and mixture samples. All markers are proved to be highly polymorphic with an average observed heterozygosity (He) of 0.4582. The combined power of discrimination (CPD) is 0.999 999 999 999 978 and the combined power of exclusion in duos (CPED) and trios (CPET) are 0.978 837 and 0.999573, respectively, which are higher than those of the Investigator® DIPplex kit. Thus, the GoldeneyeTM DNA ID System 35InDel kit is suitable for forensic human identification and could serve as a supplementary typing system for paternity testing. Supplemental data for this article is available online at https://doi.org/10.1080/20961790.2021.1945723 .

At present, with the rapid increase of emergency knowledge and the improvement of people’s requirements for medical quality, the traditional teaching mode cannot fully meet the needs of emergency teaching in the new era. PBL is a project-based teaching that allows students to have a deeper understanding of content knowledge and to better apply what they have learned to their lives. This paper aims to improve the clinical emergency teaching mode by PBL teaching method, and improve the comprehensive ability of clinical emergency of medical students. This article proposes a problem-based PBL imaging teaching method, combining the characteristics and content of clinical emergency courses, focusing on students, highlighting the problem-solving process, and improving students’ creative thinking ability. To cultivate students’ interest in clinical learning, develop their self-learning ability, train their teamwork and communication skills, and cultivate their ability to set, question and solve questions, so as to promote medical students’ overall comprehensive ability to integrate specialized knowledge and clinical practice. In this paper, the PBL teaching method and the traditional teaching method of comparative experiments show that the PBL teaching method can more effectively highlight the characteristics of clinical emergency medicine teaching mode, and make full use of the limited emergency teaching resources, so as to improve the quality of clinical emergency teaching. Compared with the traditional teaching mode, the theoretical knowledge and clinical operation skills of medical students under the PBL teaching mode are improved by 13%, Autonomous learning ability, communication ability and creative thinking ability have also been relatively improved.

Definitive diagnosis to sudden cardiac death (SCD) is often challenging since the postmortem examination on SCD victims could hardly demonstrate an adequate cause of death. It is therefore important to uncover the inherited risk component to SCD. Signal transducer and activators of transcription 5 A (STAT5A) is a member of the STAT family and a transcription factor that is activated by many cell ligands and associated with various cardiovascular processes. In this study, we performed a systematic variant screening on the STAT5A to filter potential functional genetic variations. Based on the screening results, an insertion/deletion polymorphism (rs3833144) in 3’UTR of STAT5A was selected as the candidate variant. A total of 159 SCD cases and 668 SCD matched healthy controls was enrolled to perform a case-control study and evaluate the association between rs3833144 and SCD susceptibility in Chinese populations. Logistic regression analysis showed that the deletion allele of rs3833144 had significantly increased the SCD risk (odds ratio (OR) = 1.54; 95% confidence interval (CI) = 1.18–2.01; P = 0.000955). Further genotype-expression eQTL analysis showed that samples with deletion allele appeared to lower expression of STAT5A, and in silico prediction suggested the local 3 D structure changes of STAT5A mRNA caused by the variant. On the other hand, the bioinformatic analysis presented that promoters of RARA and PTGES3L-AARSD1 could interact with rs3833144, and eQTL analysis showed the higher expression of both genes in samples with deletion allele. Dual-luciferase activity assays also suggested the significant regulatory role of rs3833144 in gene transcription. Our current data thus suggested a possible involvement of rs3833144 to SCD predisposition in Chinese populations and rs3833144 with potential function roles may become a candidate marker for SCD diagnosis and prevention.

Hallucinogenic mushroom is a kind of toxic strain containing psychoactive tryptamine substances such as psilocybin, psilocin and ibotenic acid, etc. The mushrooms containing hallucinogenic components are various, widely distributed and lack of standard to define, which made a great challenge to identification. Traditional identification methods, such as morphology and toxicology analysis, showed shortcomings in old or processed samples, while the DNA-based identification of hallucinogenic mushrooms would allow to identify these samples due to the stability of DNA. In this paper, four primer sets are designed to target Psilocybe cubensis DNA for increasing resolution of present identification method, and the target markers include largest subunit of RNA polymerase II (marked as PC-R1), psilocybin-related phosphotransferase gene (marked as PC-PT), glyceraldehyde 3-phosphate dehydrogenase (marked as PC-3) and translation EF1α (marked as PC-EF). Real-time PCR with high-resolution melting (HRM) assay were used for the differentiation of the fragments amplified by these primer sets, which were tested for specificity, reproducibility, sensitivity, mixture analysis and multiplex PCR. It was shown that the melting temperatures of PC-R1, PC-PT, PC-3 and PC-EF of P. cubensis were (87.93 ± 0.12) °C, (82.21 ± 0.14) °C, (79.72 ± 0.12) °C and (80.11 ± 0.19) °C in our kinds of independent experiments. Significant HRM characteristic can be shown with a low concentration of 62.5 pg/µL DNA sample, and P. cubensis could be detected in mixtures with Homo sapiens or Cannabis sativa. In summary, the method of HRM analysis can quickly and specifically distinguish P. cubensis from other species, which could be utilized for forensic science, medical diagnosis and drug trafficking cases. Supplemental data for this article is available online at https://doi.org/10.1080/20961790.2021.1875580.

Abstract Background Currently, there is no standard technique for determining corneal astigmatism. The iTrace wavefront aberrometry of cornea calculated steep power and axis based on the best Zernike mathematical fit from all topo data within 4 mm circle. It was supposed to be more accurate than iTrace simulated keratometry which was calculated based on only 4 points on the circle of 3 mm. This aim of this study was to evaluate visual outcomes and rotational stability after toric intraocular lens (IOL) implantation using the wavefront aberrometry of the cornea with iTrace. Setting: Single site in China, Shanxi Eye Hospital, Shanxi, China. Design: Prospective case series. Methods The study included 85 eyes of 63 patients undergoing phacoemulsification and toric IOL implantation. The IOL power and cylinders were chosen with the help of the iTrace toric planning program using wavefront keratometric astigmatism. Astigmatic changes were assessed using Alpins vector method over a 3-month follow-up period. Results Preoperative mean corneal topographic astigmatism was 1.91 diopters (D) ± 0.69 (standard deviation). Postoperative mean refractive astigmatism decreased significantly to 0.48 D ± 0.34. Surgical induced astigmatism was 1.73 D ± 0.77 and the mean correction index was 0.89 ± 0.22, showing a slight undercorrection. The proportion of astigmatism ≤0.50 D increased from 0 to 71.8% postoperatively. Conclusions This is the first study on evaluation of clinical outcomes of toric IOL implantation in corneal astigmatism patients using iTrace wavefront keratometric readings. The findings show that use of iTrace built-in toric calculator is safe and effective for planning toric IOL surgery for wavefront keratometric astigmatism. Trial registration Current Controlled Trials ISRCTN94956424 , Retrospectively registered (Date of registration: 05 February 2020).

Background and Aims: Sudden cardiac death (SCD) was defined as an unexpected death from cardiac causes during a very short duration. It has been reported that Niemann-Pick type C1 (NPC1) gene mutations might be related to cardiovascular diseases. The purpose of the study is to investigate whether common genetic variants of NPC1 is involved in SCD susceptibility.Methods: Based on a candidate-gene-based approach and systematic screening strategy, this study analyzed an 8-bp insertion/deletion polymorphism (rs150703258) within downstream of NPC1 for the association with SCD risk in Chinese populations using 158 SCD cases and 524 controls. The association of rs150703258 and SCD susceptibility was analyzed using logistic regression. Genotype-phenotype correlation analysis was performed using public database including 1000G, expression quantitative trait loci (eQTL), and further validated by human heart tissues using PCR. Dual-luciferase assay was used to explore the potential regulatory role of rs150703258. Gene expression profiling interactive analysis and transcription factors prediction were performed.Results: Logistic regression analysis exhibited that the deletion allele of rs150703258 significantly increased the risk of SCD [odds ratio (OR) = 1.329; 95% confidence interval (95%CI):1.03–1.72; p = 0.0289]. Genotype-phenotype correlation analysis showed that the risk allele was significantly associated with higher expression of NPC1 at mRNA and protein expressions level in human heart tissues. eQTL analysis showed NPC1 and C18orf8 (an adjacent gene to NPC1) are both related to rs150703258 and have higher expression level in the samples with deletion allele. Dual-luciferase activity assays indicate a significant regulatory role for rs150703258. Gene expression profiling interactive analysis revealed that NPC1 and C18orf8 seemed to be co-regulated in human blood, arteries and heart tissues. In silico analysis showed that the rs150703258 deletion variant may create transcription factor binding sites. In addition, a rare 12-bp allele (4-bp longer than the insertion allele) of rs150703258 was discovered in the current cohort.Conclusion: In summary, our study revealed that rs150703258 might contribute to SCD susceptibility by regulating NPC1 and C18orf8 expression. This indel may be a potential marker for risk stratification and molecular diagnosis of SCD. Validations in different ethnic groups with larger sample size and mechanism explorations are warranted to confirm our findings.

Personal identification using the tumor DNA not only plays an important role in postoperative tissue management but also might be the only accessible source of biological material in forensic identification. Short tandem repeat (STR) is the worldwide accepted forensic marker; however, widespread loss of heterozygosity (L) in tumor tissues challenges the personal identification using the conventional capillary electrophoresis (CE)-based STR typing system (CE-STR). Because the tumors are mixtures of tumor cells and basal cells, we inferred that every germline-originated allele should be detected if the detection method was sensitive enough. Next-generation sequencing (NGS) is known as a highly sensitive application, which might be a promising tool for tumor source identification. In the study, we genotyped and compared the STR results between the platforms, and we found that the concordance was only 91.43%. Higher sensitivity did help identify more germline-originated alleles as expected, and 93.89% of them could be captured by using an NGS-based STR system (NGS-STR). The identity-by-state (IBS) scoring system was applied to generate a new tumor source identification method based on NGS-STR, and the number of loci with 2 identical alleles (A2) proved to be an ideal criterion for the larger area under the receiver operating characteristic (ROC) curve (AUC). Both the sensitivity and specificity were above 98% in the cutoff of A2 to distinguish the paired carcinoma (PC) sample group from the unrelated individual (UI) group, the simulated full sibling (FS) group, and the simulated parent–offspring (PO) group.

In recent years, influenced by the legalization of Cannabis sativa in some countries and regions, the number of people who smoke or abuse C. sativa has continuously grown, cases of transnational C. sativa trafficking have also been increasing. Therefore, fast and accurate identification and source tracking of C. sativa have become urgent social needs. In this study, we developed a new 19-plex short tandem repeats (STRs) typing system for C. sativa, which includes 15 autosomal STRs (D02-CANN1, C11-CANN1, 4910, B01-CANN1, E07-CANN1, 9269, B05-CANN1, H06-CANN2, 5159, nH09, CS1, ANUCS 305, 3735, and ANUCS 302 and 9043), two X-chromosome STRs (ANUCS 501 and 1528), one sex-determining marker (DM016, on Y-chromosome), and a quality control marker (DM029, on autosome). The whole polymerase chain reaction (PCR) process could finish within 1 h, making the system suitable for fast detection. The PCR products were detected and separated with an Applied Biosystems 3500XL Genetic Analyser. Developmental validation studies indicated that the 19-plex typing system was accurate, reliable and sensitive, which could also deconvolute mixed C. sativa samples. Specifically, the sensitivity study showed that a full genotyping profile was obtainable with as low as 125 pg of C. sativa DNA. The species specificity study demonstrated that this multiplex has no cross-reactivity with common non C. sativa DNA. In the population study, a total of 162 alleles at 15 autosomal STRs and 14 alleles at two X-chromosome STRs were detected among 85 samples. The efficiency parameters, including the total discrimination power (TDP) and the combined power of exclusion (CPE) of the system, were calculated to exceed 0.999 999 999 999 988 and 0.998 455 889 684 078, respectively, further proving that the system could meet the needs of individual identification. To the extent of the known studies, this is the first study that included the C. sativa sex-determining marker. In conclusion, the developed new 19-plex STR typing system can successfully achieve the purposes of species identification, gender determination, and individual identification, which could be a powerful tool in tracing trade routes of particular drug syndicates or dealers or in linking certain C. sativa to a crime scene.

Background: The value of using X-chromosomal short tandem repeats (X-STRs) as genetic markers in human genetics has been widely recognised. However, the 16 X-STRs in the Goldeneye® DNA ID System 17X kit have not been thoroughly applied. Aim: To investigate the genetic polymorphisms of 16 X-STRs in three main ethnic minorities (Tibetan, Mongolian and Kazakh) in China and to reveal the phylogenetic relationships of different populations. Subjects and methods: A total of 245 Tibetan, 168 Mongolian and 105 Kazakh individuals were genotyped using this 17X kit. The allelic frequencies and other parameters were calculated. An additional eight Chinese populations and nine global populations were included in genetic comparisons based on 16 or 8 overlapped X-STRs. Results: A total of 147 alleles were observed from 16 X-STRs with allelic frequencies ranging from 0.0024 to 0.7952 in the three studied groups. Based on 16 X-STRs, Tibetans, Kazakhs and Mongolians showed more similarity to each other and were genetically distinct from the Shanghai Han group; based on 8 X-STRs, only the genetic relationships between different nations could be clarified. Conclusions: Our study presents an extensive report on a novel X-STR assay in three Chinese ethnic groups and a comprehensive genetic comparison between different populations based on these X-STRs.

The Investigator 24plex QS Kit (QIAGEN, Hilden, Germany) is a 6-dye fluorescent chemistry short tandem repeat (STR) polymerase chain reaction (PCR) amplification system that simultaneously amplifies 20 of the expanded Combined DNA Index System (CODIS) core STR loci, SE33, DYS391, and the standard sex-determining locus, amelogenin, as well as two special internal performance quality sensor controls (QS1 and QS2), which are included in the primer mix to check the PCR performance. This study was designed to be a pilot evaluation of this STR-PCR kit in a Chinese Han population regarding the PCR conditions, sensitivity, precision, accuracy, repeatability, reproducibility, and concordance; tolerance to PCR inhibitors; applicability to real “forensic-type” samples; species specificity; mixture, balance and stutter analyses, and utility in a population investigation. The exhaustive validation studies demonstrated that the Investigator 24plex QS system is accurate, sensitive and robust for STR genotyping. In addition, these genetic markers in the population data in our study indicated that they can also be useful for forensic identification and paternity testing in the Chinese Han population.

Deep transfer learning aims at dealing with challenges in new tasks with insufficient samples. However, when it comes to few-shot learning scenarios, due to the low diversity of several known training samples, they are prone to be dominated by specificity, thus leading to one-sidedness local features instead of the reliable global feature of the actual categories they belong to. To alleviate the difficulty, we propose a cross-modal few-shot contextual transfer method that leverages the contextual information as a supplement and learns context awareness transfer in few-shot image classification scenes, which fully utilizes the information in heterogeneous data. The similarity measure in the image classification task is reformulated via fusing textual semantic modal information and visual semantic modal information extracted from images. This performs as a supplement and helps to inhibit the sample specificity. Besides, to better extract local visual features and reorganize the recognition pattern, the deep transfer scheme is also used for reusing a powerful extractor from the pre-trained model. Simulation experiments show that the introduction of cross-modal and intra-modal contextual information can effectively suppress the deviation of defining category features with few samples and improve the accuracy of few-shot image classification tasks.

Sudden cardiac death (SCD) is a devastating complication of multiple disease processes and has gradually became a major public health issue. miR-155 is one of the best characterized miRNAs and plays a critical role in several physiological and pathological process, including cardiovascular diseases. In this study, we systematically screened the whole region of miR-155 host gene (MIR155HG) and identified a 4-bp insertion/deletion variant (rs72014506) residing in the intron region of MIR155HG as the candidate polymorphism. The association of rs72014506 with SCD susceptibility was evaluated using 166 SCD cases and 830 healthy controls in a Chinese population. Logistic regression analysis suggested that the homozygote del/del genotype significantly decreased the risk of SCD [odds ratio (OR) = 0.29; 95% confidence interval (CI) = 0.12–0.74; Ptrend = 0.0004]. Further genotype–expression association study using human myocardium tissue samples suggested that the deletion allele was intimately linked to lower the expression of both MIR155HG and mature miR155. Luciferase activity assay also revealed that the deletion allele of rs72014506 inhibited gene transcriptional activity. Finally, we performed electrophoretic mobility shift assay and verified the preferential binding affinity of the deletion allele with POU2F1 (POU domain class 2 transcription factor 1). Collectively, we have successfully identified a SCD risk conferring polymorphism in the MIR155HG gene and a likely biological mechanism for the decreased risk of SCD associated with the deletion allele. This novel variant may thus serve as a potential genetic marker for SCD diagnosis and prevention in natural populations, if validated by further studies with a larger sample size.

Due to the high risk of construction sites, it is necessary to make safety risk evaluation. With the synthetic consideration of the complexity and uncertainty of construction sites, a comprehensive evaluation index system with two levels has been based on the emphases and difficulties of the current safety work in construction industry; the index system includes civilized construction site, management of machinery, equipment, materials, occupation health protection, and the subpackage management, such as 6 one-level evaluation indexes, inspection system of safety risk, safety awareness education, and prevention and control of occupation disease, such as 33 two-level evaluation indexes. The research takes “No. A residential building and other 8 projects” as the empirical analysis object, with the weights of the first indexes and second indexes being calculated by the analytic hierarchy process (AHP) and the information entropy, and applies the unascertained measure to comprehensively evaluate the safety risk of the construction project. The overall score of the project is 6.4475, the evaluation result is good, which is consistent with the actual situation, and the feasibility and effectiveness of the evaluation index system and evaluation model are verified, which provides a reference for safety risk management in the construction stage of construction projects.

Abstract Background To investigate corneal densitometry values obtained using Scheimpflug tomography in normal and highly myopic (HM) eyes and to assess the differences in densitometry values between them. Methods Highly myopic and normal corneas were examined using the Pentacam Scheimpflug imaging system. Corneal densitometry was automatically performed over a 12-mm diameter area, which was divided on the basis of annular concentric zones (0–2 mm, 2–6 mm, 6–10 mm, 10–12 mm, total diameter) and depth (anterior layer: inner 120 μm; center layer: from 120 μm to the last 60 μm; posterior layer: last 60 μm; total corneal thickness). Results A total of 100 normal and 100 HM eyes were enrolled in this study. Upon total corneal thickness densitometry, the HM group was found to have significantly lower values compared with the normal group in 4 annuli, including the 2 mm central zone, 2-6 mm zone, 6–10 mm zone, and 0–12 mm total diameter. Upon anterior layer densitometry, the HM group demonstrated statistically lower values in the 2-6 mm and 6–10 mm zones. Upon densitometry of the central and posterior layers, the HM group was found to have lower values in all annuli. Conclusions The densitometry map reveals that light backscatter was lower in most portions of the HM cornea than in the normal cornea.

Abstract STRs vary not only in the length of the repeat units and the number of repeats but also in the region with which they conform to an incremental repeat pattern. Massively parallel sequencing (MPS) offers new possibilities in the analysis of STRs since they can simultaneously sequence multiple targets in a single reaction and capture potential internal sequence variations. Here, we sequenced 34 STRs applied in the forensic community of China with a custom-designed panel. MPS performance were evaluated from sequencing reads analysis, concordance study and sensitivity testing. High coverage sequencing data were obtained to determine the constitute ratios and heterozygous balance. No actual inconsistent genotypes were observed between capillary electrophoresis (CE) and MPS, demonstrating the reliability of the panel and the MPS technology. With the sequencing data from the 200 investigated individuals, 346 and 418 alleles were obtained via CE and MPS technologies at the 34 STRs, indicating MPS technology provides higher discrimination than CE detection. The whole study demonstrated that STR genotyping with the custom panel and MPS technology has the potential not only to reveal length and sequence variations but also to satisfy the demands of high throughput and high multiplexing with acceptable sensitivity.

A forensic validation study of the Early Access Huaxia™ Platinum Polymerase Chain Reaction (PCR) kit was completed to document the performance capabilities and limitations. The genotyping of DNA samples was consistent across a large range of template DNA concentrations, with complete profiles obtained at 0.125 ng; however, no more than 2 mm × 1.2 mm punches of samples would be recommended for direct amplification. The size precision and accuracy test revealed the genotyping ability; while consistent results were obtained when comparing the kit with other commercially available systems. In addition, the whole PCR amplification can finish within approximately 45 min, making the system suitable for fast-detection. However, only partial profiles may be obtained with challenging samples, including DNA stored on Foam-Tipped Applicators (FTA) cards or some case samples. For the forensic application in ethnic groups, a total of 282 and 229 alleles were obtained in Han and Mongolia, respectively. Since the 23 short tandem repeats were independent from each other, the cumulative power of exclusion in duos was 0.999 999 157 188 and the cumulative power of exclusion in trios was 0.999 999 999 859 in the Han group while the cumulative power of exclusion in duos (CPEduo) was 0.999 998 848 26 and cumulative power of exclusion in trios (CPEtrio) was 0.999 999 999 79 in the Mongolia group. And good internal consistency was found between the two investigated groups and the Sichuan Han, Hui, Tibetan and Uygur according to available reference data.