Integrated analysis of whole genome and transcriptome sequencing reveals a frameshift mutation associated with recessive embryonic lethality in Holstein cattle.

Embryo loss is an important factor affecting fertility in dairy production. HH2 was identified as a haplotype on chromosome 1 associated with embryonic lethality in Holstein cattle. In the current study, both short- and long-read WGS was performed on four carriers and four non-carriers of HH2 to screen for variants in concordance with HH2 haplotype status. Sequence variation analysis revealed five putative functional variants of protein-coding genes, including a frameshift mutation (g.107172616delT) in intraflagellar transport protein 80 (IFT80) gene. Transcriptome analysis of whole blood indicated that no gene exhibited significantly differential expression or allele-specific expression between carriers and non-carriers in the candidate region. This evidence points to g.107172616delT as the highest priority causative mutation for HH2. Protein prediction reveals that the frameshift mutation results in a premature stop codon to reduce the peptide chain from 760 to 383 amino acids and greatly alters the structure and function of IFT80 protein. Our results demonstrate that the use of a combination of multiple high-throughput sequencing technologies is an efficient strategy to screen for the candidate causative mutations responsible for Mendelian traits, including genetic disorders.

Effect of ontological insecurity on vaccination behavior against COVID-19: a hospital-based cross-sectional study.

OBJECTIVE: Coronavirus disease 2019 (COVID-19) has brought great uncertainty to our society and it may have disrupted people's ontological security. Consequently, this hospital-based study concerns the impact of ontological insecurity on vaccination behavior against COVID-19. STUDY DESIGN: This cross-sectional study was conducted among hospital inpatients. METHODS: A questionnaire survey addressing inpatient ontological insecurity and vaccination behavior against COVID-19 was administered in Taizhou, China. A total of 1223 questionnaires were collected; specifically, 1185 of them were credible, for a validity rate of 96.9%. RESULTS: The score of ontological insecurity was 13.27 ± 7.84, which was higher in participants who did not recommend vaccination for others than those who did (12.95 ± 8.25 vs 14.00 ± 6.78, P = 0.022). There was no difference between the vaccinated and unvaccinated groups (13.22 ± 7.96 vs 13.35 ± 7.67, P = 0.779). Lower ontological insecurity (odds ratio [OR] = 1.40, 95% confidence interval [CI]: 1.08-1.81) and being inoculated with COVID-19 vaccines (OR = 2.17, 95% CI: 1.67-2.82) were significantly associated with recommendation of COVID-19 vaccines to others after adjusting for sex, age, education, and occupation. Associations between low ontological insecurity and recommendations for COVID-19 vaccines were observed in men, adults aged 18-59 years, non-farmers, and vaccine recipients. CONCLUSIONS: This study suggests that the ontological insecurity of participants affects their behavior of recommending the COVID-19 vaccination to others rather than getting vaccinated themselves. This promotion of vaccination can be considered from the perspective of improving ontological security in China.

Dietary calcium levels regulate calcium transporter gene expression levels in the small intestine of broiler chickens.

1. This study investigated the effect of dietary calcium (Ca) levels on growth performance, bone development and Ca transporter gene expression levels in the small intestine of broiler chickens.2. On the day of hatch, 350, Ross 308 male broilers were randomly allotted to one of five treatments with five replicate pens each and 14 birds per pen. Dietary Ca levels in feed were 5.0, 7.0, 9.0, 11.0 and 13.0 g/kg, in which 9.0 g/kg was in the control diet. All diets contained 4.5 g/kg non-phytate phosphorus (NPP).3. The increase in dietary Ca levels from 5.0 to 13.0 g/kg did not affect the growth performance of 1- to 18-day-old broilers (P > 0.05).4. Increasing the Ca levels linearly increased the ash weight and the contents of ash, Ca and phosphorus (P) in the tibia of broilers at 18 days of age (P < 0.05). The contents of ash, Ca and P in broilers fed with 9.0 g/kg Ca were higher than those in birds fed with 5.0 g/kg Ca (P < 0.05).5. Increasing the Ca levels linearly decreased mRNA expression levels of the Ca-binding protein 28-kDa (CaBP-D28k), plasma membrane Ca-transporting ATPase 1b (PMCAlb), sodium (Na)/Ca exchanger 1 (NCX1), nuclear vitamin D receptor (nVDR) and membrane vitamin D receptor (mVDR) in the duodenum of broilers at 18 d of age (P < 0.05). Similar results were seen in the jejunum and ileum. Broilers fed 9.0-13.0 g/kg Ca in feed had lower mRNA expression levels of CaBP-D28k and PMCAlb in the small intestine than birds fed 5.0 g/kg Ca in feed (P < 0.05).6. The data indicated that low levels of dietary Ca stimulated its transporter gene transcription and promoted absorption, but high levels of Ca inhibited transporter gene expression and prevented excessive absorption in the small intestine of broiler chickens.

The role of structure and function changes of sensory nervous system in intervertebral disc-related low back pain.

Low back pain (LBP) is a common musculoskeletal symptom, which can be developed in multiple clinical diseases. It is widely recognized that intervertebral disc (IVD) degeneration (IVDD) is one of the leading causes of LBP. However, the pathogenesis of IVD-related LBP is still controversial, and the treatment means are also insufficient to date. In recent decades, the role of structure and function changes of sensory nervous system in the induction and the maintenance of LBP is drawing more and more attention. With the progress of IVDD, IVD cell exhaustion and extracellular matrix degradation result in IVD structural damage, while neovascularization, innervation and inflammatory activation further deteriorate the microenvironment of IVD. New nerve ingrowth into degenerated IVD amplifies the impacts of IVD-derived nociceptive molecules on sensory endings. Moreover, IVDD is usually accompanied with disc herniation, which could injure and inflame affected nerves. Under mechanical and pro-inflammatory stimulation, the pain-transmitting pathway exhibits a sensitized function state and ultimately leads to LBP. Hence, relevant pathogenic factors, such as neurotrophins, ion channels, inflammatory factors, etc., are supposed to serve as promising therapeutic targets for LBP. The purpose of this review is to comprehensively summarize the current evidence on 1) the pathological changes of sensory nervous system during IVDD and their association with LBP, and 2) potential therapeutic strategies for LBP targeting relevant pathogenic factors.

Investigation of the feasibility of synthetic MRI in the differential diagnosis of non-keratinising nasopharyngeal carcinoma and benign hyperplasia using different contoured methods for delineation of the region of interest.

AIM: To assess the feasibility and preliminary diagnostic performances of relaxation times derived from synthetic magnetic resonance imaging (syMRI) for differentiating nasopharyngeal carcinoma from nasopharyngeal benign lymphoid hyperplasia, and to assess the influence of tissue segmentation method on relaxation estimates. MATERIALS AND METHODS: Fifty participants with nasopharyngeal carcinoma (NPC) and 40 participants with benign hyperplasia (NPH) who underwent syMRI examination were enrolled prospectively. T1, T2, and proton density (PD) values were obtained from four different regions of interest (ROIs), namely, partial-section, single-section, three-sections, and whole-lesion. The metrics between NPC and NPH or among different ROIs were compared using Student's t-test or one-way ANOVA. The area under curve (AUC) was calculated to assess the performance of metrics obtained from different ROIs to differentiate NPC and NPH. RESULTS: The T1, T2, and PD values for NPH were significantly higher than those for NPC, regardless of the type of ROI used, except for the PD value obtained from the whole-lesion ROI. The T2 values obtained from the single-section ROI showed the highest diagnostic accuracy in distinguishing NPC from NPH, with an AUC of 0.894, sensitivity of 0.900, and specificity of 0.800. Additionally, the T1, T2, and PD values for nasopharyngeal lesions showed no statistical difference among different kinds of ROI, except for the difference in T1 value between partial-section and other methods. CONCLUSION: Quantitative analysis of syMRI has the potential to distinguish NPC from NPH. Moreover, different types of ROI showed limited influence on the relaxation time estimation for nasopharyngeal lesions.

Glycyrrhizin improves bone metabolism in ovariectomized mice via inactivating NF-κB signaling.

OBJECTIVES: Postmenopausal osteoporosis (PMO) is a prevalent metabolic bone disease with high morbidity and serious complications. Here, we studied the effect of glycyrrhizin on bone metabolism using the ovariectomized (OVX) mouse model. METHODS: Osteoclast-related gene expression and osteoclastic function were evaluated in RAW264.7 cells and bone marrow-derived monocytes (BMMs) by real-time polymerase chain reaction and bone resorption assay. For animal studies, female C57BL/6J mice were randomly divided into sham operated, OVX and OVX with glycyrrhizin groups. Bone mass and trabecular microarchitecture were analyzed by micro-computed tomography, dual X-ray absorptiometry, and histomorphometric analysis. Receptor activator of nuclear factor-κB (NF-κB) ligand-induced osteoclastogenesis and the NF-κB signaling pathway were studied by tartrate-resistant acid phosphatase staining and western blotting, respectively. RESULTS: Glycyrrhizin inhibits RANKL-induced expression of Nfatc-1, c-Fos, Trap, Ds-stamp, and Ctsk in RAW264.7 cells. Also, fewer bone resorption pits form when BMMs are incubated in the presence of glycyrrhizin. Glycyrrhizin ameliorates bone loss and improves trabecular bone parameters in OVX mice. BMMs isolated from OVX mice show higher ability of RANKL-induced osteoclastogenesis, which is tremendously reversed by glycyrrhizin. There is significantly higher phosphorylation of IκB-α at Ser32 and NF-κB p65 at Ser536, as well as increased protein levels of c-FOS and NFATc-1 in BMMs of OVX mice, which are all greatly suppressed by glycyrrhizin. CONCLUSIONS: Our findings imply that glycyrrhizin is a potential efficient adjuvant therapeutic for PMO.

Genomic scan revealed KIT gene underlying white/gray plumage color in Chinese domestic geese.

Goose is an important type of domesticated poultry. The wild geese that are regarded as the ancestors of modern domestic geese present gray plumage. Domesticated, geese have both white and gray feathers. To elucidate the genetic mechanisms underlying the formation of white and gray plumage in geese, we resequenced the whole genome of 18 geese from six populations including white and gray goose breeds. The average sequencing depth per individual was 9.81× and the average genome coverage was 96.8%. A total of 346 genes were detected in the top 1% of FST scores of gray- and white-feathered geese, and a significant FST site was located in the intron region within the KIT gene, the 18 bp deletion in KIT having the strongest potential association with white feathers. It has been reported that a number of genes are associated with plumage colors in birds. However, no studies have identified the relationship between KIT and plumage color in birds at present, although the white coat can be attributed to mutations in KIT in some mammals. Our study showed that that KIT is a plausible candidate gene for white/gray plumage color in Chinese domestic geese.

Comparison of long non-coding RNAs in adipose and muscle tissues between seven indigenous Chinese and the Yorkshire pig breeds.

lncRNAs play crucial roles in fat metabolism in animals. Previously, we have compared the mRNA transcriptome profiles between seven fat-type Chinese pig breeds and one lean-type Western breed (Yorkshire, YY). The associations between differentially expressed (DE) genes and phenotypical traits were investigated. In the present study, to further explore the underlying regulatory mechanisms, lncRNAs were sequenced and compared between YY and Chinese indigenous breeds. The results showed 9114 and 7538 DE lncRNAs between at least one Chinese breed and the YY breed in the adipose and muscle tissue respectively. KEGG enrichment analysis revealed that the target genes of these DE lncRNAs mainly influenced the glucolipid metabolism, which is an important process affecting meat quality. Correlation analyses between the DE lncRNA and DE mRNA genes related to meat quality and growth traits were performed. The results showed that LTCONS_00073280 was associated with intramuscular fat content. Four lncRNAs (LTCONS_00101781, LTCONS_00037879, LTCONS_00088260 and LTCONS-00128343) might mediate backfat thickness. Overall, this study provides candidate lncRNAs that potentially affect meat quality, which might be useful for molecular breeding of pig breeds in future.

Enhanced dynamic nuclear polarization via swept microwave frequency combs.

Dynamic nuclear polarization (DNP) has enabled enormous gains in magnetic resonance signals and led to vastly accelerated NMR/MRI imaging and spectroscopy. Unlike conventional cw-techniques, DNP methods that exploit the full electron spectrum are appealing since they allow direct participation of all electrons in the hyperpolarization process. Such methods typically entail sweeps of microwave radiation over the broad electron linewidth to excite DNP but are often inefficient because the sweeps, constrained by adiabaticity requirements, are slow. In this paper, we develop a technique to overcome the DNP bottlenecks set by the slow sweeps, using a swept microwave frequency comb that increases the effective number of polarization transfer events while respecting adiabaticity constraints. This allows a multiplicative gain in DNP enhancement, scaling with the number of comb frequencies and limited only by the hyperfine-mediated electron linewidth. We demonstrate the technique for the optical hyperpolarization of 13C nuclei in powdered microdiamonds at low fields, increasing the DNP enhancement from 30 to 100 measured with respect to the thermal signal at 7T. For low concentrations of broad linewidth electron radicals [e.g., TEMPO ((2,2,6,6-tetramethylpiperidin-1-yl)oxyl)], these multiplicative gains could exceed an order of magnitude.

[Preliminary results of surgical treatment of fibrous dysplasia of proximal femur in children].

Objective: To investigate the surgical treatment, clinical effect and revision reasons of children with proximal femoral fibrous dysplasia(FD). Methods: The clinical data of 26 children with polyostotic FD of proximal femur who underwent surgery at Department of Pediatric Orthopaedics, Beijing Jishuitan Hospital from June 2016 to June 2018 were retrospectively analyzed. There were 18 males and 8 females with a mean age of 9.2 years (range:5 to 16 years).One of them was McCune Albright syndrome. Fifteen cases were in first operation and 11 cases were in revision operation. The operation methods and results were reviewed,and the causes of revision were analyzed. Results: Among the 15 children who underwent the first operation,13 cases underwent osteotomy or fracture reduction and interlocking intramedullary nail(IMN) fixation;One case underwent valgus osteotomy and pediatric hip plate(PHP)internal fixation;One case underwent valgus osteotomy+lesion curettage+allogeneic bone graft+PHP fixation. Among the 11 children who underwent revision surgery,9 cases were treated with IMN fixation,1 case with PHP fixation,and 1 case with PHP fixation+allogeneic bone graft. The causes of revision included distal fixation failed in 6 cases,proximal fixation failed in 3 cases,plate fixation failed in 5 cases,and recurrence occurred after curettage and artificial bone graft in 2 cases. Patients were followed up for 1.4 years(range:1.0 to 3.5 years) after recent operation. The osteotomy or fracture healed well with good deformity correction. Postoperative complications included infection in 1 case and local bone partial resorption in 1 case. Conclusions: Osteotomy combined with rigid internal fixation is an effective surgical treatment for fibrous dysplasia of proximal femur in children. Internal fixation should cover the whole length of lesion. Intramedullary nail is the most common choice. Because the growth of height and the progress of the disease itself,this deformity is prone to recur in children,needing closely follow-up after operation.

Calycosin enhances the bactericidal efficacy of polymyxin B by inhibiting MCR-1 in vitro.

AIM: To examine the synergistic effect of calycosin combined with polymyxin B against various mcr-1-positive bacterial strains. METHODS AND RESULTS: In this study, we found a potential inhibitor of MCR-1, calycosin, that could significantly restore the antibacterial activity of polymyxin B. The synergistic effect of calycosin combined with polymyxin B against various mcr-1-positive bacterial strains was confirmed by checkerboard minimum inhibitory concentration assays, time-kill curve assays and disk diffusion assays. The fractional inhibitory concentration indexes ranged from 0·15 ± 0·03 to 0·28 ± 0·05, and the zones of inhibition increased from 13·33 ± 0·47 to 17·67 ± 0·47 mm with the combined therapy of calycosin and polymyxin B. In addition, the combined therapy significantly reduced the number of bacteria in the medium. However, at the concentrations required for the synergistic effect with polymyxin B, calycosin alone showed no effect on bacterial growth or MCR-1 production. Calycosin treatment exhibited no cytotoxicity to HeLa cells or A549 cells at calycosin concentrations below 32 µg ml-1 . CONCLUSIONS: Therefore, our results suggested that calycosin could be used as a potential MCR-1 inhibitor to restore the bactericidal effect of polymyxin B without affecting bacterial viability or existing cytotoxicity. SIGNIFICANCE AND IMPACT OF THE STUDY: The synergistic effect of calycosin combined with polymyxin B against various mcr-1-positive bacterial strains paves the way for future pharmaceutical applications of calycosin in fighting mcr-1-positive bacterial infections.

MiR-1203 is involved in hepatocellular carcinoma metastases and indicates a poor prognosis.

Non-coding RNAs, especially miRNAs, have been shown to be important regulators in multiple human diseases, including malignant tumors, congenital disease, and autoimmune disease. In this study, we screened the metastasis-associated miRNAs in hepatocellular carcinoma (HCC). Based on the miRNA microarray screening, miR-1203 was confirmed to be the most significant miRNA and was also highly associated with HCC metastases. Bioinformatics prediction indicated direct binding of miR-1203 in SOCS3, which was also confirmed by a dual luciferase reporter assay, resulting in suppression of SOCS3. Increased miR-1203 also promoted invasion of HCC cells through suppressing SOCS3, while no effect on cell proliferation or apoptosis was detected. Circulating expression of miR-1203 and SOCS3 might serve as a predictor of metastases and poor prognosis in HCC patients. In conclusion, miR-1203 might promote HCC metastasis by decreasing SOCS3. MiR-1203 predicts a poor outcome in HCC patients and thus might serve as a potential therapeutic target for the prevention of HCC.

A joint analysis strategy reveals genetic changes associated with artificial selection between egg-type and meat-type ducks.

Egg-type ducks and meat-type ducks are predominantly commercial or indigenous and have been subjected to artificial directional selection. These two duck types differ substantially in body shape, production performance and reproductivity. However, the genetic changes associated with phenotypic differences remain unclear. Here, we compared the two duck types at the genomic and transcriptomic levels. We identified a large number of SNPs and genes in genomic divergent regions in terms of FST and θπ values. The corresponding genes were mainly enriched in embryonic development function and metabolic pathway. RNA-seq analysis also revealed differential gene expression in the liver and gonads. The differentially expressed genes were functionally associated with signal transmission and substance metabolism respectively. Furthermore, we found that seven genes were related to differentiation between the two types by both g genome and transcriptome analysis and were plausible candidate genes. These genes were annotated to GO categories of cell development and disease immunity. These findings will enable a better understanding of the artificial selection history of meat and egg ducks and provide a valuable resource for future research on the breeding of these two lineages.

Identification of genetic effects and potential causal polymorphisms of CPM gene impacting milk fatty acid traits in Chinese Holstein.

Our previous GWAS revealed 83 significant SNPs and 20 promising candidate genes associated with milk fatty acid traits in dairy cattle. Out of them, the carboxypeptidase M (CPM) gene contains a genome-wide significant SNP, Hapmap49848-BTA-106779, which is strongly associated with myristic acid (C14:0; P = 0.0064). Herein, we aimed to confirm the genetic effects of CPM on milk fatty acids in Chinese Holstein. Seven SNPs were detected by re-sequencing the sequences of entire exons and 3000 bp of up-/downstream flanking regions of the CPM gene, of which three were in 5' flanking region, one in the 3' UTR and three were in the 3' flanking region. Using the Haploview 4.1, we estimated the LD among the identified SNPs and found two haplotype blocks. With the animal model, we performed the SNP- and haplotype-based association analyses, and observed that these SNPs and haplotype blocks mainly had strong genetic associations with medium-chain saturated fatty acids (caproic acid, C6:0; caprylic acid, C8:0; capric acid, C10:0; and lauric acid, C12:0) (P < 0.0001-0.0257). In addition, using the Genomatix software, we predicted that three SNPs in the 5' flanking region of CPM (g.45079507A>G, g.45080228C>A and g.45080335C>G) changed the transcription factor binding sites for PREF (progesterone receptor biding site), ZBRK1 (transcription factor with eight central zinc fingers and an N-terminal KRAB domain), SOX9 (sex-determining region Y-box 9, dimeric binding sites), SOX6 (sex-determining region Y-box 6) and FOXP1-ES (alternative splicing variant of FOXP1, activated in ESCs). Further, the dual-luciferase reporter assay showed these three SNPs altered the transcriptional activity of CPM gene (P ≤ 0.0006). In summary, using the post-GWAS strategy, we first confirmed the significant genetic effects of CPM with milk fatty acids in dairy cattle, and identified three potential causal mutations.

Enhancing secretion of polyethylene terephthalate hydrolase PETase in Bacillus subtilis WB600 mediated by the SPamy signal peptide.

The polyethylene terephthalate hydrolase (PETase) has been proved to have a high activity to degrade polyethylene terephthalate (PET), but few studies have been carried on its secretion in Bacillus subtilis. In this study, the coding gene of PETase, which was isolated from the Ideonella sakaiensis, was synthesized and expressed in B. subtilis. Then, we evaluated the ability of five Bacillus signal peptides to enhance PETase secretion by B. subtilis. The results indicated that the SPamy -induced secretion of PETase was the highest, and its activity against p-Nitrophenyl palmitate was about fourfold that of the natural signal peptide SPPETase . The weak promoter P43 provided sufficient time for translation and folding of PETase, resulting in increased extracellular expression. Use of P43 and SPamy in combination yielded the greatest bis-(2-hydroxyethyl) terephthalate degradation and PET-film etching activity due to maximized secretion of PETase by B. subtilis. Our findings will facilitate biodegradation of PET plastic. SIGNIFICANCE AND IMPACT OF THE STUDY: High-level expression of polyethylene terephthalate hydrolase (PETase) facilitates biodegradation of PET. In this study, the expression elements, signal peptide and promoter, in the secretory expression system, were optimizing for maximizing secreted expression of PETase in Bacillus subtilis. The constructed strains yielded the greatest bis-(2-hydroxyethyl) terephthalate degradation and PET-film etching activities.

[125â seed brachytherapy for recurrent salivary gland carcinoma after external radiotherapy].

OBJECTIVE: To investigate the clinical application and efficacy of 125Ⅰ radioactive seeds implantation in the treatment of recurrent salivary gland carcinoma after external radiotherapy. METHODS: From July 2004 to July 2016, 43 cases of recurrent salivary gland carcinoma of the neck after external radiotherapy or surgery combined with external radiotherapy were treated. According to the conventional segmentation radiotherapy for head and neck cancer (once a day, 1.8-2.0 Gy each time, 5 days per week), the cumulative radiation dose of the patients in this group was calculated. In the study, 26 patients received 50-60 Gy, 7 patients received less than 50 Gy, 4 patients received 60-70 Gy, and 6 patients received more than 80 Gy (range: 80-120 Gy). The interval between the last external irradiation and local recurrence was 4-204 months, and the median interval was 48 months. Among them, 25 cases were treated with 125Ⅰ radioactive seeds implantation only and 18 cases were treated with 125Ⅰ radioactive seeds implantation after operation. The prescription dose was 100-140 Gy. The control rate, survival rate and disease-free survival rate were recorded to evaluate the side effects. RESULTS: The median follow-up time was 27 months (ranging from 2.5 to 149.0 months). Among them, the median follow-up time of adenoid cystic carcinoma patients was 31 months (range: 2.5-112.0 months), and the median follow-up time of mucoepidermoid carcinoma patients was 18 months (range: 5-149 months). The local control rates for 1, 3 and 5 years were 66.5%, 48.8% and 42.7%, respectively. The 1-, 3- and 5- year survival rates were 88.0%, 56.7% and 45.8%, respectively. The disease-free survival rates of 1, 3 and 5 years were 58.3%, 45.4% and 38.1%, respectively. There was no statistically significant difference in local control rate, survival rate, and disease-free survival between the radioactive seeds implantation group and the radioactive seeds implantation group after surgical resection. There were 2 cases of acute radiation reaction Ⅰ/Ⅱ and 3 cases of reaction Ⅲ or above. In the late stage of radiotherapy, there were 8 cases with Ⅰ/Ⅱ grade reaction and 3 cases with Ⅲ grade or above reaction. The incidence of radiation reactions of Grade Ⅲ and above was 7%. CONCLUSION: 125Ⅰ radioactive seeds implantation provides an alternative method for the treatment of recurrent salivary gland carcinoma after external radiotherapy. The local control rate and survival rate are improved on the premise of low incidence of side effects.

[Analysis on the situation of being supported by the national natural science foundation of China in the field of occupational diseases from 2010 to 2019].

Objective: To understand the situation supported by the National Natural Science Foundation in the field of occupational diseases (H2402) in China, so as to provide a reference basis for the application and research of scientific researchers in the field of occupational diseases in China. Methods: The information system of scientific and technological achievements was used to search the financial support of the National Natural Science Foundation of China (NSFC) in the field of occupational diseases from 2010 to 2019. Results: From 2010 to 2019, a total of 55 projects were funded under the Occupational Disease code (H2402) , with a total funding of 22.33 million yuan, of which 30 were supported by the Youth Science Foundation, 20 by the Youth Science Foundation and 5 by the Regional Science Foundation. Thirty five items of the research projects focused on pneumoconiosis and other respiratory diseases which accounted for 63.64 per cent. Forty one items of scientific research projects are supported by domestic institutions of higher learning which accounted for 74.55 per cent. Conclusion: The research support of the National Natural Science Foundation of China to the field of occupational diseases (H2402) has increased steadily, but the support of different research directions and supporting units is not balanced. It is suggested that departments concerned strengthen guidance and support for the applicants in less developed areas and weak research directions of the projects in the National Natural Science Foundation.

Diagnostic performance of multiparametric MRI parameters for Gleason score and cellularity metrics of prostate cancer in different zones: a quantitative comparison.

AIM: To compare the diagnostic performance of multiparametric MRI (mpMRI) parameters for Gleason score (GS) and cellularity metrics of prostate cancer (PCa) in the peripheral zone (PZ) and transition zone (TZ) separately. MATERIALS AND METHODS: In total, 225 PCa patients with preoperative mpMRI and whole-mount pathological sections were enrolled retrospectively. Detection rates of index lesions (highest GS or largest dimension) and clinically significant PCa (csPCa) were evaluated. Tumour-to-muscle ratio and skewness of T2 signal intensity, average apparent diffusion coefficient (ADCmean) and 10th percentile ADC (ADC10%) were derived and correlation with GS was performed with Spearman's correlation coefficient (ρ), while effectiveness in differentiating GS 6 from GS ≥7 was compared with receiver operating characteristic (ROC) analysis. Moreover, correlation of cellularity metrics with mpMRI parameters was evaluated with Pearson's correlation coefficient (r). RESULTS: In total, 398 lesions were identified, with 87.1% (196/225) index lesions and 86.8% (249/287) csPCa detected. Compared to T2 parameters, ADC parameters, especially ADCmean, correlated better with GS (maximal ρ: -0.58 versus -0.33, p=0.011) and yielded significantly higher area under the curve (AUC) in differentiating GS 6 from GS ≥7 (maximal AUC: 0.854 versus 0.731, p=0.020) among PZ lesions. Moreover, ADCmean demonstrated significantly moderate correlation with the nuclear-to-cytoplasmic ratio and nuclear fraction (r=-0.403 and -0.514, p<0.001); however, for TZ lesions, all parameters demonstrated poor correlation with GS and cellularity metrics. CONCLUSION: mpMRI could effectively detect index and csPCa lesions. ADC parameters, especially ADCmean, correlated better with GS and cellularity metrics than T2 in PZ, while all parameters demonstrated poor performance within TZ lesions.

Identification of genetic associations of ECHS1 gene with milk fatty acid traits in dairy cattle.

Our previous genome-wide association study identified 83 genome-wide significant SNPs and 20 novel promising candidate genes for milk fatty acids in Chinese Holstein. Among them, the enoyl-CoA hydratase, short chain 1 (ECHS1) and enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase (EHHADH) genes were located near two SNPs and one SNP respectively, and they play important roles in fatty acid metabolism pathways. We herein validated whether the two genes have genetic effects on milk fatty acid traits in dairy cattle. By re-sequencing the full-length coding region, partially adjacent introns and 3000 bp up/downstream flanking sequences, we identified 12 SNPs in ECHS1: two in exons, four in the 3' flanking region and six in introns. The g.25858322C>T SNP results in an amino acid replacement from leucine to phenylalanine and changes the secondary structure of the ECHS1 protein, and single-locus association analysis showed that it was significantly associated with three milk fatty acids (P = 0.0002-0.0013). The remaining 11 SNPs were found to be significantly associated with at least one milk fatty acid (P = <0.0001-0.0040). Also, we found that two haplotype blocks, consisting of nine and two SNPs respectively, were significantly associated with eight milk fatty acids (P = <0.0001-0.0125). However, none of polymorphisms was observed in the EHHADH gene. In conclusion, our findings are the first to indicate that the ECHS1 gene has a significant genetic impact on long-chain unsaturated and medium-chain saturated fatty acid traits in dairy cattle, although the biological mechanism is still undetermined and requires further in-depth validation.

Comparison of microRNAs in adipose and muscle tissue from seven indigenous Chinese breeds and Yorkshire pigs.

Elucidation of the pig microRNAome is essential for interpreting functional elements of the genome and understanding the genetic architecture of complex traits. Here, we extracted small RNAs from skeletal muscle and adipose tissue, and we compared their expression levels between one Western breed (Yorkshire) and seven indigenous Chinese breeds. We detected the expression of 172 known porcine microRNAs (miRNAs) and 181 novel miRNAs. Differential expression analysis found 92 and 12 differentially expressed miRNAs in adipose and muscle tissue respectively. We found that different Chinese breeds shared common directional miRNA expression changes compared to Yorkshire pigs. Some miRNAs differentially expressed across multiple Chinese breeds, including ssc-miR-129-5p, ssc-miR-30 and ssc-miR-150, are involved in adipose tissue function. Functional enrichment analysis revealed that the target genes of the differentially expressed miRNAs are associated mainly with signaling pathways rather than metabolic and biosynthetic processes. The miRNA-target gene and miRNA-phenotypic traits networks identified many hub miRNAs that regulate a large number of target genes or phenotypic traits. Specifically, we found that intramuscular fat content is regulated by the greatest number of miRNAs in muscle tissue. This study provides valuable new candidate miRNAs that will aid in the improvement of meat quality and production.