Objective:To analyze the epidemiological characteristics of active pulmonary tuberculosis (pulmonary tuberculosis) in Xi'an from 2013 to 2023 and predict the incidence trend of pulmonary tuberculosis in Xi'an by using autoregressive integrated moving average (ARIMA) product seasonal models to provide a decision-making basis for tuberculosis prevention and control.Methods:The incidence data of pulmonary tuberculosis reported in Xi'an from 2013 to 2023 were collected through the Tuberculosis Information Management System of the Chinese Center for Disease Control and Prevention. The Excel 2016 software was used for descriptive statistical analysis of pulmonary tuberculosis incidence data reported in Xi'an from 2013 to 2023. The SPSS 20.0 software was used to establish an ARIMA product seasonal model to predict the incidence of pulmonary tuberculosis in Xi'an.Results:A total of 49 860 cases of pulmonary tuberculosis were reported in Xi'an from 2013 to 2023, with an annual average incidence of 45.60/100 000. The incidence showed a downward trend in the past decade. The incidence was high in spring, with a peak from March to May, a small peak from November to January, and a low incidence in February and October. The annual average incidence of pulmonary tuberculosis in 2 suburban counties (52.80/100 000) was higher than that in 14 urban areas (43.21/100 000) ( χ2=20.19, P<0.001). With the increase of age, the incidence of pulmonary tuberculosis was higher, and the incidence of the males was higher than that of female ( χ2=378.34, P<0.001), the ratio of male to female incidence was 1.73∶1. The most occupation of the population was farmers, accounting for 46.54%. The established ARIMA (0, 1, 1) (1, 1, 1) 12 product seasonal model exhibited a good prediction effect, with the Bayesian Information Criterion being -1.567, the root mean square error being 0.42, and the mean absolute percentage error being 9.62. The average relative error between the actual value and the predicted value was 6.63%, and the 95% CI of the predicted value included the actual value. Conclusions:2013-2023, the incidence of pulmonary tuberculosis in Xi'an has been on the decline as a whole. Special attention should be paid to the prevention and control of tuberculosis in districts (counties) adjacent to mountainous areas in the south, people aged 60 years and above, and farmers and other vulnerable groups. The established ARIMA (0, 1, 1) (1, 1, 1) 12 product seasonal model exhibited a good predictive effect and can be applied to the short-term prediction of tuberculosis incidence.

This study reported two cases of distal 18q deletions identified through non-invasive prenatal testing (NIPT). Case 1 harbored a de novo 20.4 Mb deletion of 46, XY, del(18) (q21.32q23), classified as pathogenic according to the American College of Medical Genetics and Genomics (ACMG) guidelines. Follow-up at five years of age revealed global developmental delay, congenital heart disease, and distinct facial features. Case 2 had a 5.71 Mb paternal-origin deletion of 46,XX,del(18)(q22.1q22.2), with only mild tricuspid regurgitation detected at eight months of age. These phenotypic discrepancies demonstrated that the clinical manifestations of 18q deletion syndrome were closely associated with the size of the deleted segment and the involved critical genes. Therefore, individualized genetic counseling and long-term follow-up were necessary for the affected children.

Objective:To analyze the epidemiological characteristics of active pulmonary tuberculosis (pulmonary tuberculosis) in Xi'an from 2013 to 2023 and predict the incidence trend of pulmonary tuberculosis in Xi'an by using autoregressive integrated moving average (ARIMA) product seasonal models to provide a decision-making basis for tuberculosis prevention and control.Methods:The incidence data of pulmonary tuberculosis reported in Xi'an from 2013 to 2023 were collected through the Tuberculosis Information Management System of the Chinese Center for Disease Control and Prevention. The Excel 2016 software was used for descriptive statistical analysis of pulmonary tuberculosis incidence data reported in Xi'an from 2013 to 2023. The SPSS 20.0 software was used to establish an ARIMA product seasonal model to predict the incidence of pulmonary tuberculosis in Xi'an.Results:A total of 49 860 cases of pulmonary tuberculosis were reported in Xi'an from 2013 to 2023, with an annual average incidence of 45.60/100 000. The incidence showed a downward trend in the past decade. The incidence was high in spring, with a peak from March to May, a small peak from November to January, and a low incidence in February and October. The annual average incidence of pulmonary tuberculosis in 2 suburban counties (52.80/100 000) was higher than that in 14 urban areas (43.21/100 000) ( χ2=20.19, P<0.001). With the increase of age, the incidence of pulmonary tuberculosis was higher, and the incidence of the males was higher than that of female ( χ2=378.34, P<0.001), the ratio of male to female incidence was 1.73∶1. The most occupation of the population was farmers, accounting for 46.54%. The established ARIMA (0, 1, 1) (1, 1, 1) 12 product seasonal model exhibited a good prediction effect, with the Bayesian Information Criterion being -1.567, the root mean square error being 0.42, and the mean absolute percentage error being 9.62. The average relative error between the actual value and the predicted value was 6.63%, and the 95% CI of the predicted value included the actual value. Conclusions:2013-2023, the incidence of pulmonary tuberculosis in Xi'an has been on the decline as a whole. Special attention should be paid to the prevention and control of tuberculosis in districts (counties) adjacent to mountainous areas in the south, people aged 60 years and above, and farmers and other vulnerable groups. The established ARIMA (0, 1, 1) (1, 1, 1) 12 product seasonal model exhibited a good predictive effect and can be applied to the short-term prediction of tuberculosis incidence.

This study reported two cases of distal 18q deletions identified through non-invasive prenatal testing (NIPT). Case 1 harbored a de novo 20.4 Mb deletion of 46, XY, del(18) (q21.32q23), classified as pathogenic according to the American College of Medical Genetics and Genomics (ACMG) guidelines. Follow-up at five years of age revealed global developmental delay, congenital heart disease, and distinct facial features. Case 2 had a 5.71 Mb paternal-origin deletion of 46,XX,del(18)(q22.1q22.2), with only mild tricuspid regurgitation detected at eight months of age. These phenotypic discrepancies demonstrated that the clinical manifestations of 18q deletion syndrome were closely associated with the size of the deleted segment and the involved critical genes. Therefore, individualized genetic counseling and long-term follow-up were necessary for the affected children.

OBJECTIVE: To present on a prenatally diagnosed case with complex structural rearrangements of chromosome 8. METHODS: Chromosome karyotyping, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) were carried out for a fetus with increased nuchal thickness. RESULTS: The karyotype of the amniotic fluid sample showed extra materials on 8p. FISH revealed a centromeric signal at the terminal of 8p with absence of telomeric signal. CMA revealed partial deletion of 8p23.3 [(208049_2256732)×1], partial duplication of 8p23.3p23.2 [(2259519_3016818)×3], and partial duplication of 8q [8q11.1q12.2(45951900_60989083)×3]. CONCLUSION The complex structural rearrangements of chromosome 8 in this case has differed from the commonly seen inv dup del(8p).
Female ; Pregnancy ; Humans ; Chromosomes, Human, Pair 8/genetics* ; In Situ Hybridization, Fluorescence ; Gene Rearrangement ; Prenatal Diagnosis ; Centromere

Objective: To explore the value of T2WI and enhanced T1WI magnetic resonance imaging models in differentiating inverted papilloma and polyp of nasal cavity and paranasal sinus． Methods: 54 cases of inverted papilloma (NIP) and 51 cases of polyp ( NP) with complete T2WI and enhanced T1WI images confirmed by pathology were collected．ITK snap was used to outline all levels of the lesion．Pyromics was used to extract image omics features．Firstly，the mRMR) was used for feature extraction，and then rfe-SVM was used to remove the feature of minimum score and establish a prediction model．The sensitivity and specificity of ROC curve were used to evaluate the performance of the model，and were verified in the validation set. Results: A total of 1 133 image omics features were extracted，and 30 features were retained after mrmr dimensionality reduction for the establishment of prediction models．The AUC value of T1WI enhanced prediction model was : training set 0. 98，validation set 0. 95，the sensitivity and specificity of training set were 89. 7% and 100% respectively，and the sensitivity and specificity of validation set were 93. 8% and 93. 3% respectively．The AUC value of T2WI prediction model was : training set 0. 95，validation set 0. 91，the sensitivity and specificity of training set were 82. 1% and 95. 6% respectively，and the sensitivity and specificity of validation set were 93. 8% and 84. 2% respectively． Conclusion MRI based on T1WI enhancement prediction model and T2WI prediction model have certain value in differentiating inverted papilloma and polyp of nasal cavity and paranasal sinus.

Objective:To develop a self-made plasma quality control material for non-invasive prenatal testing (NIPT) and evaluate its performance.Methods:139 NIPT-negative maternal plasmas stored in the genetic department of Shaoxing maternal and child health hospital from January 1, 2019 to June 30, 2021 were divided into male groups (19 cases) and female groups (120 cases) according to the neonatal gender. 9360 cases from September 2020 to September 2021 were enrolled as clinical validation cases.First step, 200 μl plasma from a 47 years-old non-pregnant healthy women was used as a matrix. Different amounts (0.1, 0.2, 0.5, 2.5, and 5 μl) of positive DNA from fetal chromosome aneuploidy (T21, T18, T13) detection kit were added. The appropriate volume of positive DNA was 0.5 μl according to the test results. Second step,Plasma in male and female group was treated as matrix. 0.5 μl positive DNA was added per 205 μl. Plasma matrix from female group showed good repeatability and the sensitivity was 100%.Third step, evaluate the self-made plasma quality control material, including storage stability, matrix uniformity and repeatability, and the effect of different batch numbers of positive DNA, by calculating Z score and the CV of fetal DNA concentration (FF).Results:Plasma matrix from female group showed good repeatability and the sensitivity was 100%, while the sensitivity of male group was only 84%. The CV of FF in female matrix was 3.9% in the repetitive experiments. After adding 0.5 μl positive DNA, the mean FF of self-made positive plasma quality control was 5.63%±0.42%, Z values>6, and the CV was 7% after storage of three months. Considering the concentration variation of positive DNA in different lots, 1 μl of positive DNA should be added when the FF of positive DNA is lower than 10%.Used in 9360 clinical cases from September 2020 to September 2021, all positive plasma quality control materials showed positive results, and the positive predictive value of trisomy 21 was 100%.Conclusions:The NIPT self-made positive plasma quality control material has been successfully developed in this study. The preliminary experimental results show that it has good repeatability and stability, which is suitable for clinical application.

Metabolic-associated fatty liver disease (MAFLD), which is previously known as non-alcoholic fatty liver disease (NAFLD), represents a major health concern worldwide with limited therapy. Here, we provide evidence that ferroptosis, a novel form of regulated cell death characterized by iron-driven lipid peroxidation, was comprehensively activated in liver tissues from MAFLD patients. The canonical-GPX4 (cGPX4), which is the most important negative controller of ferroptosis, is downregulated at protein but not mRNA level. Interestingly, a non-canonical GPX4 transcript-variant is induced (inducible-GPX4, iGPX4) in MAFLD condition. The high fat-fructose/sucrose diet (HFFD) and methionine/choline-deficient diet (MCD)-induced MAFLD pathologies, including hepatocellular ballooning, steatohepatitis and fibrosis, were attenuated and aggravated, respectively, in cGPX4-and iGPX4-knockin mice. cGPX4 and iGPX4 isoforms also displayed opposing effects on oxidative stress and ferroptosis in hepatocytes. Knockdown of iGPX4 by siRNA alleviated lipid stress, ferroptosis and cell injury. Mechanistically, the triggered iGPX4 interacts with cGPX4 to facilitate the transformation of cGPX4 from enzymatic-active monomer to enzymatic-inactive oligomers upon lipid stress, and thus promotes ferroptosis. Co-immunoprecipitation and nano LC-MS/MS analyses confirmed the interaction between iGPX4 and cGPX4. Our results reveal a detrimental role of non-canonical GPX4 isoform in ferroptosis, and indicate selectively targeting iGPX4 may be a promising therapeutic strategy for MAFLD.

The online version of the original article can be found at https://doi.org/10.1631/jzus.B2000190 Erratum to: J Zhejiang Univ-Sci B (Biomed & Biotechnol) 2020 21(10):779-795 https://doi.org/10.1631/jzus.B2000190.

Objective:To explore the effect of emotional nursing in improving the negative emotions and compliance of patients with intracranial tumors.Methods:From March 2014 to March 2020, 90 patients with intracranial tumors admitted to Zhoushan Hospital in Zhejiang Province were selected as the research object. A total of 45 patients with intracranial tumors from March 2014 to February 2017 were set as the control group, and 45 patients with intracranial tumors from March 2017 to March 2020 were set as the observation group. The control group carried out routine nursing, and the observation group conducted emotional nursing on this basis. The negative emotions assessed by Self-rating Depression Scale (SDS) and Self-rating Anxiety Scale (SAS) , compliance and comfort scores of the two groups of patients were compared.Results:In the observation group, the SDS and SAS scores of patients were lower than those in the control group, the comfort scores were higher than those in the control group, and the compliance was higher than that of the control group, and the differences were statistically significant ( P<0.05) . Conclusions:Emotional nursing can effectively improve the negative emotions and compliance of patients with intracranial tumors, and increase their comfort during hospitalization.