Clinical and molecular characterization of patients with YWHAG-related epilepsy.

OBJECTIVE: YWHAG variant alleles have been associated with a rare disease trait whose clinical synopsis includes an early onset epileptic encephalopathy with predominantly myoclonic seizures, developmental delay/intellectual disability, and facial dysmorphisms. Through description of a large cohort, which doubles the number of reported patients, we further delineate the spectrum of YWHAG-related epilepsy. METHODS: We included in this study 24 patients, 21 new and three previously described, with pathogenic/likely pathogenic variants in YWHAG. We extended the analysis of clinical, electroencephalographic, brain magnetic resonance imaging, and molecular genetic information to 24 previously published patients. RESULTS: The phenotypic spectrum of YWHAG-related disorders ranges from mild developmental delay to developmental and epileptic encephalopathy (DEE). Epilepsy onset is in the first 2 years of life. Seizure freedom can be achieved in half of the patients (13/24, 54%). Intellectual disability (23/24, 96%), behavioral disorders (18/24, 75%), neurological signs (13/24, 54%), and dysmorphisms (6/24, 25%) are common. A genotype-phenotype correlation emerged, as DEE is more represented in patients with missense variants located in the ligand-binding domain than in those with truncating or missense variants in other domains (90% vs. 19%, p < .001). SIGNIFICANCE: This study suggests that pathogenic YWHAG variants cause a wide range of clinical presentations with variable severity, ranging from mild developmental delay to DEE. In this allelic series, a genotype-phenotype correlation begins to emerge, potentially providing prognostic information for clinical management and genetic counseling.

[Effect of laparoscopic ovarian cystectomy on ovarian reserve and the outcomes of in vitro fertilization patients with benign ovarian cysts].

Objective: To investigate the effect of laparoscopic ovarian cystectomy on anti-Mullerian hormone (AMH) level, ovarian response to gonadotropin stimulation and pregnancy rate for in vitro fertilization (IVF) patients with benign ovarian cysts. Methods: Patients with benign ovarian cysts who were admitted for cystectomy and had undergone IVF treatment were enrolled in the study. There were 373 participants with ovarian cysts underwent laparoscopic ovarian cystectomy in the experimental group. According to duration of post-surgery, there were four sub-groups: 1 year post-surgery (1Y POST), 2 years post-surgery (2Y POST), 4 years post-surgery (4Y POST) and ≥5 years post-surgery (≥5Y POST) in the experimental group. According to histopathologic types of ovarian cysts, there were two sub-groups: ovarian endometriotic cysts and ovarian non-endometriotic cysts. Two hundreds and three patients with no history of ovarian cysts and ovarian surgery were in the control group. The level of AMH and basic concentrations of follicle stimulating hormone (FSH), luteinizing hormone (LH), progesterone (P), estradiol (E2) were measured. Antral follicle counts (AFC) were calculated. There were other study variables: total dose of gonadotropins, duration of ovarian stimulation, the number of oocyte retrieved, the number of embryo obtained, blastocyst transfer rate and pregnancy rate. Results: The control group was matched as closely as possible to the experimental group, including age, body mass index and menstrual cycle (all P>0.05). Compared to the women in control group, the women in ovarian endometriotic cystectomy sub-group had significantly higher levels of basal FSH and basal P, lower level of AMH (all P<0.05); the women in ovarian endometriotic cysts sub-group had significantly higher dose of gonadotropins (all P<0.05); the women in ovarian endometriotic cysts ≥5Y POST sub-group had significantly lower number of oocyte retrieved, lower number of embryo obtained, lower blastocyst transfer rate, and lower pregnancy rate (all P<0.05). Compared to the women in control group, the women in ovarian non-endometriotic cysts sub-group had a significantly higher level of basal FSH and basal P (all P<0.05). The women in ovarian non-endometriotic cysts sub-group had lower level of AMH, higher dose of gonadotropins, lower number of oocyte retrieved, lower number of embryo obtained, lower rate of blastocyst transfer and lower rate of pregnancy than the control group but there were no statistically significant differences among them (all P>0.05). The women with unilateral ovarian endometriotic cysts had significantly lower number of oocyte retrieved on the side of surgery than another side (P<0.05). Conclusions: In short term laparoscopic ovarian cystectomy has no significant effect on ovarian reserve. But with long-term follow-up ovarian reserve, ovarian response to gonadotropin stimulation and pregnancy rate are decreased. The effect of laparoscopic ovarian cystectomy in benign cysts on ovarian is associated with whether or not it is the surgical side.

Aetiology of tinea capitis in China: a multicentre prospective study.

BACKGROUND: Tinea capitis is still common in developing countries, such as China. Its pathogen spectrum varies across regions and changes over time. OBJECTIVES: This study aimed to clarify the current epidemiological characteristics and pathogen spectrum of tinea capitis in China. METHODS: A multicentre, prospective descriptive study involving 29 tertiary hospitals in China was conducted. From August 2019 to July 2020, 611 patients with tinea capitis were enrolled. Data concerning demography, risk factors and fungal tests were collected. When necessary, the pathogens were further identified by morphology or molecular sequencing in the central laboratory. RESULTS: Among all enrolled patients, 74·1% of the cases were in patients aged 2-8 years. The children with tinea capitis were mainly boys (56·2%) and were more likely than adults to have a history of animal contact (57·4% vs. 35·3%, P = 0·012) and zoophilic dermatophyte infection (73·5% vs. 47%). The adults were mainly female (83%) and were more likely than children to have anthropophilic agent infection (53% vs. 23·9%). The most common pathogen was zoophilic Microsporum canis (354, 65·2%), followed by anthropophilic Trichophyton violaceum (74, 13·6%). In contrast to the eastern, western and northeastern regions, where zoophilic M. canis predominated, anthropophilic T. violaceum predominated in central China (69%, P < 0·001), where the patients had the most tinea at other sites (20%) and dermatophytosis contact (26%) but the least animal contact (39%). Microsporum ferrugineum was the most common anthropophilic agent in the western area, especially in Xinjiang province. CONCLUSIONS: Boys aged approximately 5 years were the most commonly affected group. Dermatologists are advised to pay more attention to the different transmission routes and pathogen spectra in different age groups from different regions.

Differentiation of transverse sinus thrombosis from congenitally atretic transverse sinus with time-resolved contrast-enhanced magnetic resonance angiography.

AIM: To establish the value of time-resolved contrast-enhanced magnetic resonance angiography (TR-MRA) in identifying transverse sinus (TS) thrombosis in patients with a unilaterally absent TS signal on phase-contrast (PC) magnetic resonance venography (MRV). MATERIALS AND METHODS: Forty-five patients who were suspected of TS thrombosis clinically with a unilaterally absent TS signal on PC MRV were evaluated using TR-MRA. The image quality was compared between PC MRV and TR-MRA via calculating signal-to-noise ratios (SNRs) and contrast-to-noise ratios (CNRs) of the normal TS. Images obtained by PC MRV and TR-MRA were assessed independently by two neuroradiologists regarding whether the absent signal was thrombosis or hypoplastic TS. Then a consultant neurologist made the final diagnosis based on all available clinical, laboratory, and radiological results (delivered by a consultant neuroradiologist via computed tomography [CT]/CT venography, magnetic resonance imaging [MRI]/MRV or digital subtraction angiography [DSA]), which was set as the reference standard. The accuracy of the radiological diagnosis from both techniques was assessed. RESULTS: For image quality, the SNRs and CNRs of TR-MRA were 452.14 and 440.92, respectively, significantly higher than that of PC MRV (both p<0.001). The interobserver agreement of TR-MRA in identifying TS thrombosis from hypoplastic TS was excellent (κ = 0.951; 95% confidence interval [CI], 0.902-1), much higher than PC MRV (κ = 0.526; 95% CI, 0.389-0.663). Consensus of assessment based on TR-MRA was highly consistent with the reference standard (100% sensitivity, 96.67% specificity) and superior to PC MRV (60% sensitivity, 90% specificity). CONCLUSION: TR-MRA is better than PC MRV for visualising TS and distinguishing thrombosis from congenitally atretic TS.

[Correlation between serum IgM antibody and viral load with clinical symptoms in neonates infected with cytomegalovirus].

To investigate the correlation between serum cytomegalovirus (CMV) IgM antibody/viral load and infection-related clinical symptoms in neonates infected with CMV, and provide basis for clinical assessment and monitoring of neonatal CMV infection. A total of 70 neonates with CMV infection admitted to neonatology in Women's Hospital, School of Medicine Zhejiang University, from January 2014 to December 2020 were included in this study. Using real-time quantitative PCR as the diagnostic criteria, congenital cytomegalovirus-infected neonates (n=29) was diagnosed within the first 3 weeks of life, otherwise, it was postnatally acquired cytomegalovirus infection (n=41). The differences in general information and clinical indicators between IgM antibody positive and negative patients were analyzed, combined with the PCR result, the correlation between the IgM/viral load and the occurrence of symptoms were analyzed. T-test and non-parametric test were used to compare the differences of indicators between groups, logistic regression was used for multivariate analysis, and ROC curve was used to evaluate the auxiliary diagnostic value of relevant indicators. In the congenital CMV infection group and the postnatally acquired CMV infection group, viral load and the proportion of symptomatic patients in IgM positive group were significantly higher than IgM negative group (Z=-2.616, P=0.008; 80% vs. 21%, P=0.005) (Z=-2.405, P=0.016; 56% vs. 19%, P=0.025). Logistic regression analysis of the included population showed the risk factors of CMV infection-related symptoms were IgM positive (OR 4.562, 95%CI:1.461-14.246,P=0.009) and viral load (OR 1.728, 95%CI:1.068-2.798,P=0.026). Regressive analysis for single symptom with correction showed IgM antibody positive was associated with hearing dysfunction(OR 3.954, 95%CI:1.066-14.677,P=0.040),the CMV viral load was associated with thrombocytopenia (OR 2.228, 95%CI:1.124-4.413,P=0.022), and brain imaging abnormalities (OR 3.956, 95%CI:1.421-11.011, P=0.008). Receiver operating characteristic (ROC) analysis showed the area under ROC curve of CMV viral load for brain imaging abnormalities was 0.883 (P<0.001), with a sensitivity of 75.0% and specificity of 90.3%. For neonates infected with CMV, the risk of infection-related clinical symptoms and hearing dysfunction may be increased when IgM antibody was positive. Meanwhile, the higher the CMV viral load at diagnosis, the higher the risk of thrombocytopenia and abnormal brain imaging.

Integrated microRNA-mRNA analysis reveals the roles of microRNAs in the muscle fat metabolism of Yanbian cattle.

Fat deposition is an important economic trait in farm animals. However, it is difficult to genetically improve intramuscular fat deposition via trait-based cattle breeding. The main objectives of this study were to analyze the factors about beef flavor, and to detect functional microRNA (miRNA, miR) associated with intramuscular fat deposition in Yanbian cattle. Longissimus dorsi samples from six steers were separated into high- and low-fat groups (n = 3 each) based on the marbling score, and transcriptomic analysis was performed using miRNA sequencing. A total of 33 miRNAs and 38 genes were found to be differentially expressed in the high- and low-fat groups. Quantitative real-time polymerase chain reaction was performed to validate the sequencing results. Integrated miRNA-mRNA analysis revealed that miRNA-associated target genes were primarily associated with skeletal muscle development. However, some of the miRNAs (miR-424 etc.) and genes (ATF3 etc.) were also associated with fat metabolism. A targeted relationship between miR-22-3p and the WFIKKN2 gene and its involvement in adipocyte differentiation were confirmed experimentally. The study findings may provide potential candidate molecular targets for the selection of cattle with improved meat quality.

[Analysis of chronic obstructive pulmonary disease screening questionnaire and pulmonary function test among migrant workers exposed to dust].

Objective: To analyze the application of Chronic Obstructive Pulmonary Disease (COPD) Screening Questionnaire and pulmonary function test in dust-exposed migrant workers. Methods: In May 2019, 149 cases of dust exposed migrant workers were selected as the research subjects through the free clinic in the countryside. COPD Screening Questionnaire and lung function test were carried out to analyze the high-risk groups and the influencing factors of positive pulmonary function test results. Results: Among 149 cases of dust-exposed migrant workers, 107 (71.8%) were positive for questionnaire screening, 73 (49.0%) were positive for pulmonary function test, 75 (50.3%) were diagnosed with coal worker's pneumoconiosis, and 101 (67.8%) were diagnosed with lung function injury. The positive rate of pulmonary function of migrant workers with positive questionnaire screening results was significantly higher than that of those with negative results (P<0.05) . The results of multivariate analysis showed that compared with non-pneumoconiosis, the risk of positive pulmonary function test results was higher in dust-exposed migrant workers with stage Ⅲ pneumoconiosis (OR=16.462, 95%CI: 3.390-79.946; P<0.01) . Compared with non-smoking, the risks of positive pulmonary function test results of dust-exposed migrant workers with smoking index of 11-20 package years and >20 package years were higher (OR=19.814, 95%CI: 3.854-101.883; OR=9.733, 95%CI: 2.310-41.008; P<0.01) . Conclusion: The risk of COPD in dust-exposed migrant workers is high, so we should strengthen the early examination of the high pneumoconiosis stage and smoking population. The screening questionnaire can better screen out the high-risk groups of COPD, and it can be used as a basic screening tool.

Traumatic fractures in China from 2012 to 2014: a National Survey of 512,187 individuals.

The China National Fracture Study has been conducted to provide a national dataset of traumatic fractures across China. A national representative sample of 512,187 individuals was selected. The population-weighted incidence rates, distribution, injury mechanisms, and risk factors for traumatic fractures were identified for various groups of individuals. INTRODUCTION: The China National Fracture Study (CNFS) has been conducted to provide a comprehensive and up-to-date national dataset of traumatic fractures across China. This study aims to report the national incidences and distributions of traumatic fractures that occurred in 2012, 2013, and 2014 and to analyze the risk factors. METHODS: A national representative sample of individuals was selected from 24 rural counties and 24 urban cities of 8 provinces using stratified random sampling and the probability proportional to size (PPS) methodology. Participants were interviewed to identify whether they sustained traumatic fractures of the trunk and/or four extremities that had occurred in 2012, 2013, and 2014. The main risk factors associated with traumatic fractures were analyzed by multiple logistic regression models. RESULTS: A total of 512,187 individuals, including 259,649 males and 252,538 females, participated in the CNFS. The population-weighted incidence rates of traumatic fractures in China were calculated to be 2.5 (95% CI, 2.2-2.8) per 1000 population in 2012, 2.8 (95% CI, 2.5-3.3) in 2013, and 3.2% (95% CI, 2.8-3.6) in 2014. The population-weighted incidence rates of fragility fractures among participants aged 65 years and older were calculated to be 27.4 (95% CI, 21.4-33.4) per 1000 population in 2012, 36.0 (95% CI, 28.6-43.5) in 2013, and 42.4 (95% CI, 34.9-49.9) in 2014. The most common cause of fracture was low-energy injuries, followed by traffic accidents. For all age groups, sleeping less than 7 h was a risk factor for traumatic fractures. Alcohol consumption and previous fracture history were identified as risk factors for adults aged 15 years and over. Cigarette smoking was found to be a risk factor for males aged 15-64 years old. For individuals aged 15-64 years old, underweight incurred a risk effect for males and overweight for females. Alcohol consumption, sleeping less than 7 h per day, living in the central and eastern regions, a body mass index less of than 18.5, and having a previous fracture history were identified as strong risk factors for fragility fractures. CONCLUSION: The national incidence, distribution, and injury mechanisms for traumatic fractures were revealed in the CNFS. Risk factors were identified for various groups of individuals.

Provision of Lipid-Based Nutrient Supplements to Mothers During Pregnancy and 6 Months Postpartum and to Their Infants from 6 to 18 Months Promotes Infant Gut Microbiota Diversity at 18 Months of Age but Not Microbiota Maturation in a Rural Malawian Setting: Secondary Outcomes of a Randomized Trial.

BACKGROUND: Diet may alter the configuration of gut microbiota, but the impact of prenatal and postnatal nutritional interventions on infant gut microbiota has not been investigated. OBJECTIVE: We evaluated whether providing lipid-based nutrient supplements (LNSs) to mother-infant dyads promotes a more diverse and mature infant gut microbiota, compared to maternal supplementation with multiple micronutrients (MMN) or iron and folic acid (IFA). METHODS: We enrolled 869 pregnant women in a randomized trial in Malawi. There were 3 study groups, with women receiving 1 MMN capsule daily during pregnancy and 6 mo postpartum, or 1 LNS sachet (20 g) daily during pregnancy and 6 mo postpartum, or 1 IFA capsule daily (during pregnancy) then a placebo daily (postpartum). Infants in the LNS group received LNS from 6 to 18 mo; infants in the other groups did not receive supplements. The infants' fecal microbiota were characterized by PCR amplification and sequencing of the bacterial 16S rRNA gene (variable region 4). The primary outcomes were microbiota α diversity and maturation [as microbiota-for-age z score (MAZ)]. Specific associations of taxa with intervention were established with indicator species analysis (ISA). RESULTS: Primary outcomes did not differ between IFA and MMN groups, so these groups were combined (IFA + MMN). Mean ± SD α diversity was higher in the LNS group at 18 mo for Shannon index [3.01 ± 0.57 (LNS) compared with 2.91 ± 0.60 (IFA + MMN), P = 0.032] and Pielou's evenness index [0.61 ± 0.08 (LNS) compared with 0.60 ± 0.09 (IFA + MMN), P = 0.043]; no significant differences were observed at 1, 6, 12, or 30 mo. MAZ and ß diversity did not differ at any age. We found 10 and 3 operational taxonomic units (OTUs) positively associated with LNS and IFA + MMN, respectively; however, these associations became nonsignificant following false discovery rate correction at 10%. CONCLUSIONS: Prenatal and postnatal LNS intake promoted infant gut microbiota diversity at 18 mo, after 12 mo of child supplementation, but did not alter microbiota maturation. This trial was registered at clinicaltrials.gov as NCT01239693.

Diagnostic accuracy of deep learning in orthopaedic fractures: a systematic review and meta-analysis.

AIM: To gather and compare related clinical studies, and to investigate the accuracy and reliability of deep learning in detecting orthopaedic fractures. MATERIALS AND METHODS: This study is a retrospective combination and interpretation of prospectively acquired data. Articles from PubMed, EMBASE, the Cochrane library databases, and reference lists of the qualified articles were retrieved. Heterogeneity between studies was assessed using a random effective model. Pooled sensitivity, specificity, diagnostic odds ratio, and area under the receiver operating characteristic curve (AUC) were obtained by a random model. This work was managed from October 2018 to March 2020. RESULTS: Fourteen studies were included in this systematic review and nine were synthesized in the meta-analysis. The pooled sensitivity and specificity for the whole group (17 trials, 5,434 images) were 0.87 and 0.91, respectively. The AUC was 0.95. Eight trials (1,574 images) were included in the long-bone group, which contained seven studies. The pooled sensitivity was 0.96 and specificity was 0.94. The AUC was 0.99. Heterogeneity existed in the four pooled results of the whole group and the pooled specificity of the long-bone group. CONCLUSIONS: Deep learning is reliable in fracture diagnosis and has high diagnostic accuracy, which is similar to that of general physicians and is unlikely to produce a large number of false diagnoses; however, the ability of deep learning to localize the fracture needs more attention and testing. Deep learning can be extremely helpful with pre-classification of clinical diagnoses.

Bovine bta-microRNA-1271 Promotes Preadipocyte Differentiation by Targeting Activation Transcription Factor 3.

Yanbian yellow cattle are one of the top five largest breeds of cattle in China. We had previously found that bta-miR-1271 is differentially expressed in the longissimus dorsi muscles of Yanbian yellow bulls and steers. However, whether bta-miR-1271 affects bovine fat formation is unclear. In this study, we used target gene prediction, dual-luciferase reporter assay, and transfection-mediated overexpression and inhibition of bta-miR-1271 in a culture of Yanbian yellow cattle preadipocytes to investigate the role of bta-miR-1271 in adipogenesis. We showed that bta-miR-1271 directly targets the 3'-untranslated region (3'-UTR) of the activating transcription factor 3 (ATF3) mRNA and downregulates its expression. Overexpression of bta-miR-1271 enforced by the miRNA mimics promoted triglyceride accumulation and significantly upregulated expression of the adipogenic peroxisome proliferator-activated receptor γ (PPARγ) and CCAAT enhancer-binding protein α (C/EBPα) genes at both the protein and mRNA levels, as demonstrated by RT-qPCR and Western blot analyses. Conversely, inhibition of bta-miR-1271 expression produced the opposite effect. Our results show that bta-miR-1271 regulates differentiation of Yanbian yellow cattle preadipocytes by inhibiting ATF3 expression, which highlights the importance of microRNA-mediated regulation of adipogenesis. miR-1271 and its target gene(s) may provide a new research direction for investigating biological agents affecting intramuscular fat deposition in cattle.

A Prospective Study on Child Morbidity and Gut Microbiota in Rural Malawi.

OBJECTIVES: The determinants of gut microbiota composition and its effects on common childhood illnesses are only partly understood, especially in low-income settings. The aim of the present study was to investigate whether morbidity predicts gut microbiota composition in Malawian children and whether microbiota predicts subsequent morbidity. We tested the hypothesis that common infectious disease symptoms would be predictive of lower microbiota maturity and diversity. METHODS: We used data from 631 participants in a randomized-controlled nutrition intervention trial, in which a small-quantity lipid-based nutrient supplement was provided to pregnant and lactating mothers and their children at 6 to 18 months of age. Fecal samples were collected from the children at 6, 12, 18, and 30 months of age and analyzed using 16S rRNA sequencing. Microbiota variables consisted of measures of microbiota diversity (Shannon Index), microbiota maturity (microbiota-for-age z score), and the relative abundances of taxa. Morbidity variables included gastrointestinal and respiratory symptoms and fever. RESULTS: Diarrhea and respiratory symptoms from 11 to 12 months were predictive of lower microbiota-for-age z score and higher Shannon Index, respectively (P = 0.035 and P = 0.023). Morbidity preceding sample collection was predictive of the relative abundances of several bacterial taxa at all time points. Higher microbiota maturity and diversity at 6 months were predictive of a lower incidence rate of fever in the subsequent 6 months (P = 0.007 and P = 0.031). CONCLUSIONS: Our findings generally do not support the hypothesis that morbidity prevalence predicts a subsequent decrease in gut microbiota maturity or diversity in rural Malawian children. Certain morbidity symptoms may be predictive of microbiota maturity and diversity and relative abundances of several bacterial taxa. Furthermore, microbiota diversity and maturity may be associated with the subsequent incidence of fever.

[The ratio of tuberculosis-specific antigen to phytohemagglutinin in T-SPOT assay in the diagnosis of active tuberculosis].

Objective: The aim of this study was to determine the performance of the ratio of tuberculosis-specific antigen (TBAg) to phytohemagglutinin (PHA) (TBAg/PHA ratio) in T-SPOT assay in the diagnosis of active tuberculosis (ATB). Methods: Between January 2014 and January 2017, 378 Mycobacterium tuberculosis (MTB) culture positive patients (268 cases of pulmonary tuberculosis, 110 extra-pulmonary tuberculosis) and 824 healthy individuals were recruited from Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology. T-SPOT assay was performed and TBAg/PHA ratio was calculated in all the participants. To validate the study, another group of 223 MTB culture positive TB patients with positive T-SPOT results were recruited from Guangzhou Chest Hospital between January 2017 and December 2017. This was a retrospective case-control study and differences between groups were analyzed using the Mann-Whitney U-test. Results: Of the 378 culture positive ATB patients, 344 patients had positive T-SPOT results. Of the 824 healthy individuals, 204 individuals had positive T-SPOT results. Using healthy individuals as the control group, the sensitivity and specificity of T-SPOT assay in the diagnosis of ATB were 91.0% (344/378) and 75.2% (620/824). Directly using T-SPOT results had a limited accuracy in distinguishing ATB from latent tuberculosis infection (LTBI). The area under the receiver operating characteristic (ROC) curve was between 0.7 and 0.8. However, a further calculation of the TBAg/PHA ratio showed a better performance than TBAg in distinguishing these two conditions, and the area under the ROC curve was 0.881 (95% CI: 0.853-0.909). If using the threshold value of 0.234, the sensitivity and specificity of the TBAg/PHA ratio in distinguishing ATB from LTBI were 69.5% (239/344) and 94.12% (192/204). The validation data showed that the performance of the TBAg/PHA ratio in distinguishing ATB from LTBI was also satisfactory, and the area under the ROC curve was 0.901 (95% CI: 0.872-0.931). Furthermore, the TBAg/PHA ratio had an important role in the diagnosis of extra-pulmonary tuberculosis. If using the threshold value of 0.234, the sensitivity and specificity of the TBAg/PHA ratio in the diagnosis of extra-pulmonary tuberculosis were 79.2% (76/96) and 94.1% (192/204). The area under the ROC curve was 0.932 (95% CI: 0.897-0.967). Conclusions: The TBAg/PHA ratio in T-SPOT assay was better than directly using T-SPOT results in distinguishing ATB from LTBI. This ratio also showed a potential use in the diagnosis of extra-pulmonary tuberculosis.

The role of three-dimensional pseudo-continuous arterial spin labelling in grading and differentiating histological subgroups of meningiomas.

AIM: To evaluate the usefulness of pseudo-continuous arterial spin labelling (pCASL) imaging in grading and differentiating histological subtypes of meningiomas. MATERIALS AND METHODS: In this prospective study, conventional magnetic resonance imaging (MRI) with contrast-enhanced T1-weighted images and pCASL were acquired with a 3 T MRI system before surgery in 125 consecutive patients with suspected meningiomas. Finally, the perfusion parameters were collected from 84 grade I and 23 grade II meningiomas. On the pCASL perfusion map, the mean absolute cerebral blood flow (CBF) values from the meningioma (CBFtumour), peritumoural oedema (CBFPTO), white matter of contralateral centrum semi-ovale (CBFwm) and normal grey matter (CBFgm) were calculated. Additionally, the associations of these perfusion parameters with the value of ki-67 index were analysed. RESULTS: The CBFwm value correlated negatively with the largest diameter of the tumour, which limited its usage as a reference for ratio calculation. The CBFtumour values of grade II and grade I meningiomas did not differ significantly: 137.36±71.85 ml/min/100 g versus 123.58±135.80 ml/min/100 g (p=0.641). The CBFPTO value was higher for grade II meningioma as than for grade I meningiomas: 30.30±15.56 ml/min/100 g versus 22.33±9.87 ml/min/100 g (p=0.037). The CBFtumour value was highest in angiomatous meningioma and lowest in fibrous meningioma, thus enabling the differentiation of subtypes of meningioma. The CBFtumour value did not correlate with the ki-67 index of meningioma. CONCLUSION: The CBFPTO value, rather than the CBFtumour value, from pCASL imaging may serve as a key factor in distinguishing different grades of meningiomas. Moreover, angiomatous meningiomas and fibrous meningiomas can be identified by CBFtumour value.

A genome-wide association study suggests new candidate genes for milk production traits in Chinese Holstein cattle.

A genome-wide association study (GWAS) was conducted on 15 milk production traits in Chinese Holstein. The experimental population consisted of 445 cattle, each genotyped by the GGP (GeneSeek genomic profiling)-BovineLD V3 SNP chip, which had 26 151 public SNPs in its manifest file. After data cleaning, 20 326 SNPs were retained for the GWAS. The phenotypes were estimated breeding values of traits, provided by a public dairy herd improvement program center that had been collected once a month for 3 years. Two statistical models, a fixed-effect linear regression model and a mixed-effect linear model, were used to estimate the association effects of SNPs on each of the phenotypes. Genome-wide significant and suggestive thresholds were set at 2.46E-06 and 4.95E-05 respectively. The two statistical models concurrently identified two genome-wide significant (P < 0.05) SNPs on milk production traits in this Chinese Holstein population. The positional candidate genes, which were the ones closest to these two identified SNPs, were EEF2K (eukaryotic elongation factor 2 kinase) and KLHL1 (kelch like family member 1). These two genes could serve as new candidate genes for milk yield and lactation persistence, yet their roles need to be verified in further function studies.

Imaging features of intracranial psammomatous meningioma.

PURPOSE: This study was conducted to describe the imaging features of intracranial psammomatous meningioma (IPM). MATERIALS AND METHODS: Twenty-three patients with a histopathological diagnosis of IPM between January 2007 and August 2016 were retrospectively reviewed. Twenty-two patients underwent contrast-enhanced MRI scanning, and 16 underwent non-enhanced CT. RESULTS: A total of 23 adult patients (3 men, 20 women; mean age, 55.3±7.0 years) with 30 IPMs, including 3 patients with multiple IPMs, were recruited. Twenty tumours (66.7%) were located at the cerebral convexity. The mean size of the lesions was 2.42±0.92cm (range, 1.2-4.8cm). All tumours had a regular shape. On CT scans, 13 masses (13/22) were totally replaced with calcifications, and calcifications were observed in 21 cases (21/22) with higher density. There were 22 cases (22/30) of IPMs presenting adjacent hyperostosis, while 8 cases (8/30) presented no skull changes that were not close to the skull. Nearly half of the cases (14/29) showed mixed hypo- and hyperintensity on T2-weighted images and DWI. PTBE was present in 8 tumours and absent in the other 22, among which only 4 tumours were accompanied by severe oedema. CONCLUSIONS: These radiological findings may facilitate correct diagnosis for IPMs and thus presurgical planning, prognosis evaluation and treatment of meningiomas.

Effects of Lactobacillus plantarum CCFM0236 on hyperglycaemia and insulin resistance in high-fat and streptozotocin-induced type 2 diabetic mice.

AIMS: The aim of this study was to rapidly screen potential hypoglycaemic strain by α-glucosidase inhibitory activity in vitro, then explored the antidiabetic effect of Lactobacillus plantarum CCFM0236 in vivo. METHODS AND RESULTS: The cell-free supernatant of Lact. plantarum CCFM0236 significantly inhibited α-glucosidase activity in vitro. Therefore, the effects of Lact. plantarum CCFM0236, with potential hypoglycaemia activity, on insulin resistance and hyperglycaemia were explored in high-fat and streptozotocin-induced type 2 diabetes mice. Oral administration of Lact. plantarum CCFM0236 was found to decrease food intake, blood glucose level, glycosylated haemoglobin level and leptin level. Treatments of Lact. plantarum CCFM0236 also favourably regulated insulin level, AUCglucose , and HOMA-IR index, and increased the activities of glutathione peroxidase and the levels of glutathione, high-density lipoprotein cholesterol and interleukin-10. In addition, Lact. plantarum CCFM0236 reduced levels of malondialdehyde and tumour necrosis factor-α and protected pancreas function. CONCLUSIONS: Lactobacillus plantarum CCFM0236 has potential hypoglycaemic ability by ameliorating insulin resistance, antioxidant capacity and systemic inflammation in mice. SIGNIFICANCE AND IMPACT OF THE STUDY: The method of α-glucosidase inhibitory activity could be effectively used to screen potential hypoglycaemic products and Lact. plantarum CCFM0236 might be a promising therapeutic agent for ameliorating type 2 diabetes.

Imaging findings of the spinal peripheral Ewing's sarcoma family of tumours.

AIM: To present the neuroradiological and clinical characteristics of Ewing's sarcoma family of tumours (ESFTs) and to increase awareness of this neoplasm. MATERIALS AND METHODS: The magnetic resonance imaging (MRI) features and clinical presentations of seven patients with pathologically documented ESFTs were retrospectively analysed. The tumour location, morphological features, signal intensity, contrast enhancement characteristics, involvement of the paraspinal soft tissues, and adjacent bony structures were assessed. RESULTS: Most of the ESFTs in young adults were well-circumscribed. The present study demonstrated that ESFTs often have a hypo- or iso-intense signal on T1-weighted imaging and an iso-intense signal on T2-weighted imaging. Spinal ESFTs tended to present homogeneous signal intensity and diffuse enhancement. ESFTs are more likely to occur in the thoracic spine and later to infiltrate into the paraspinal area or vertebral bone. A broad dural attachment is another common feature in the cases presented here. CONCLUSIONS: ESFT is a rare neoplasm that can have significant overlap in imaging appearance compared with other spinal neoplasms. A well-demarcated extradural mass invading the paraspinal soft or vertebral bones, with iso-intense on T2 weighted imaging and homogeneous enhancement could facilitate the diagnosis of spinal ESFT.