Objective: To explore the association between mediterranean diet (MD) patterns and dental caries among children and adolescents with neurodevelopmental disorders (NDD), so as to provide a basis for developing scientific anti caries strategies related to diet. Methods: From December 2021 to June 2024, a questionnaire survey, a three day 24 hour dietary review survey, oral health examination, physical development measurement and Childhood Autism Rating Scale (CARS) evaluation were conducted involving 147 children and adolescents aged 2-22 years with NDD from nine special education schools and rehabilitation institutions in Tianjin. Group comparisons were carried out using the Mann-Whitney U test, Chi-square test, or Fisher s exact probability method. The correlation between dietary quality and dental caries was analyzed by adopting multiple linear regression analysis and restricted cubic spline. Results: There were 46 children and adolescents (31.3%) in the non dental caries group and 101 children and adolescents (68.7%) in the dental caries group. The number of decayed missing and filled teeth (dmft) was 2.0 (4.0), and the MD score was 4.0 (2.0) points. There were 62 children and adolescents (42.2%) in the low MD scores group and 85 children and adolescents (57.8%) in the high MD scores group. There was no significant difference in MD scores between NDD children in the non dental caries group and those in the dental caries group [nondental caries group:4.0(2.0), dental caries group:4.0(2.0), Z= -0.14, P >0.05]. The MD scores and dmft exhibited increasing and then decreasing trend ( P total =0.02, P non lineary = 0.04 ). Children and adolescents with NDD in the MD high scores group had a lower number of dmft than those in the MD low scores group ( β= -2.00 , 95%CI =-3.39 to -0.62, P <0.05). However, in children and adolescents with NDD and CARS scores ≥30, the above association was insignificant ( β=-0.63, 95%CI=-0.29-0.15, P >0.05). Conclusion Children and adolescents with NDD who have dietary patterns similar to the Mediterranean diet, are found to have fewer dental caries, and this is observed among those with no or mild symptoms of autism spectrum disorder.

Objective To explore the health-related quality of life(HRQOL)among patients with multidrug-resistant and rifampin-resistant pulmonary tuberculosis(MDR/RR-PTB)and analyze its influencing factors.Methods Data was collected from 50 MDR/RR-PTB patients registered for treatment management in the"Tuberculosis Management Information System"in Bazhong City from 2021 to 2024 as resistance group.Fifty pulmonary tuberculosis patients sensitive to anti-tuberculosis drug treatment registered in the system during the same period were selected as control group.A cross-sectional survey method was employed using the quality of life instruments for chronic disease pulmonary tuberculosis(QLICD-PT)to measure and compare the HRQOL between two groups.Multiple linear regression analysis was used to analyze factors affecting the HRQOL of MDR/RR-PTB patients.Results Except for physiological function,there were statistically significant difference between MDR/RR-PTB group and control group in terms of total quality of life score,psychological function,social function,and specific modules(P＜0.05).Univariate analysis showed that there were statistically significant differences in the total quality of life scores among patients with different genders,medical insurance statuses,monthly family income situations,presence or absence of comorbidities,lymphocyte count,albumin,C-reactive protein,and body mass index(P＜0.05).Multiple linear regression analysis revealed that(P＜0.05)there was significant difference for the partial regression coefficient tests of patient's medical insurance and monthly family income situations(P＜0.05).Conclusion The HRQOL of MDR/RR-PTB patients is lower than that of pulmonary tuberculosis patients sensitive to anti-tuberculosis drugs.The patient's health insurance and monthly family income are potential factors affecting the HRQOL of MDR/RR-PTB patients.

ObjectiveTo analyze the effects of polydatin on myeloma cell growth，apoptosis， and reactive oxygen species（ROS）/p38 mitogen-activated protein kinase（MAPK） signaling pathway. MethodHuman multiple myeloma （MM） cell line U266 cells were cultured in vitro，and the effects of polydatin at 0，20，40，80，160，200 mg·L^-1 on the growth of U266 cells were detected by cell counting kit-8（CCK-8）assay. The half-maximal inhibitory concentration（IC₅₀）was calculated. U266 cells in the logarithmic growth phase were randomly divided into a control group， low- and high-dose polydatin （80 and 160 mg·L^-1） groups， and a bortezomib （75 nmol·L^-1） group. After treatment with corresponding drugs，the cell viability of each group was determined by CCK-8 assay. The apoptosis rate of each group was measured by flow cytometry. The levels of inflammatory factors， such as tumor necrosis factor-α（TNF-α），interleukin-1β（IL-1β）， and ROS in each group were measured by enzyme-linked immunosorbent assay （ELISA）. The protein expression levels of apoptosis-related factors， including cysteine aspartate-specific protease-9（Caspase-9），B-cell lymphoma-2-associated X protein（Bax），p38 MAPK，and phosphorylated （p）-p38 MAPK in each group were detected by Western blot. ResultCompared with the results in the control group， polydatin of different concentrations could inhibit the growth of U266 cells （P<0.05），and the effect was potentiated with the increase in the concentration，with IC₅₀ of 156.54 mg·L^-1. Compared with the control group，the groups with drug treatment showed blunted cell viability （P<0.05） and increased apoptosis rate，TNF-α，IL-1β，and ROS levels， protein expression levels of Caspase-9， Bax，and p-p38 MAPK/p38 MAPK （P<0.05）. Compared with the low-dose polydatin group， the high-dose polydatin group and the bortezomib group showed improved indicators mentioned above （P<0.05）， and there was no significant difference between the high-dose polydatin group and the bortezomib group. ConclusionPolydatin can activate the ROS/p38 MAPK signaling pathway，promote the expression of inflammatory factors，inhibit the growth of U266 cells，and promote their apoptosis.

Remodeling the tumor microenvironment through reprogramming tumor-associated macrophages (TAMs) and increasing the immunogenicity of tumors via immunogenic cell death (ICD) have been emerging as promising anticancer immunotherapy strategies. However, the heterogeneous distribution of TAMs in tumor tissues and the heterogeneity of the tumor cells make the immune activation challenging. To overcome these dilemmas, a hybrid bacterium with tumor targeting and penetration, TAM polarization, and photothermal conversion capabilities is developed for improving antitumor immunotherapy in vivo. The hybrid bacteria (B.b@QDs) are prepared by loading Ag₂S quantum dots (QDs) on the Bifidobacterium bifidum (B.b) through electrostatic interactions. The hybrid bacteria with hypoxia targeting ability can effectively accumulate and penetrate the tumor tissues, enabling the B.b to fully contact with the TAMs and mediate their polarization toward M1 phenotype to reverse the immunosuppressive tumor microenvironment. It also enables to overcome the intratumoral heterogeneity and obtain abundant tumor-associated antigens by coupling tumor penetration of the B.b with photothermal effect of the QDs, resulting in an enhanced immune effect. This strategy that combines B.b-triggered TAM polarization and QD-induced ICD achieved a remarkable inhibition of tumor growth in orthotopic breast cancer.

Objective:To investigate the characteristics and significance of insulin-like growth factor 1(IGF- 1) and insulin-like growth factor binding protein 2 (IGFBP2) expressions in ankle cartilage of patients with Kashin-Beck disease (KBD).Methods:In this case-control study, 10 KBD patients who were hospitalized in the Department of Orthopedics of Shaanxi Provincial People's Hospital from January 2010 to December 2016 were selected as KBD group, and 10 patients with ankle fracture caused by trauma but without talus injury during the same period were selected as control group, the cartilage tissues of the two groups were collected. IGF-1, IGFBP2 positive cells, the mRNA and protein expressions of IGF-1, IGFBP2 in the cartilage tissues were detected by immunohistochemistry, real-time fluorescent quantitative PCR and Western blotting, respectively. According to the expressions of IGF-1 and IGFBP2 in ankle cartilage of KBD patients, a patient with amputation caused by trauma was selected in Shaanxi Provincial People's Hospital, and ankle joint cartilage was taken to prepare chondrocytes for in vitro cell verification experiments. The chondrocyte were divided into control group (0 ng/ml T-2 toxin), T-2 treatment group (20 ng/ml T-2 toxin) and T-2+ IGFBP2 silenced group (20 ng/ml T-2 toxin+ 50 nmol/L IGFBP2 siRNA), the MTT method and dimethyl methylene blue staining were used to detect the activity of chondrocyte and the secretion of sulfated glycosaminoglycan (sGAG). Results:In the control group and the KBD group, the number of IGF-1[(47.26 ± 8.97), (68.15 ± 7.42) cells] and IGFBP2 positive cells [(27.56 ± 5.40), (71.85 ± 7.62) cells] in the cartilage tissues were significantly different ( t = 4.487, 9.402, P < 0.01). Compared with the control group, the IGF-1, IGFBP2 mRNA and protein expression levels in KBD group were significantly higher, the differences were significantly different ( t = 3.340, 20.700, 4.684, 8.699, P < 0.05 or < 0.01). In cell experiment, the chondrocyte activitives and sGAG contents of the control group, T-2 treatment group, and T-2+ IGFBP2 silenced group were significantly different ( F = 226.70, 80.66, P < 0.01); among them, the cell activitives and sGAG contents of the T-2 treatment group and T-2+ IGFBP2 silenced group were lower than those of control group ( P < 0.05), and the T-2+ IGFBP2 silenced group were higher than those of the T-2 treatment group ( P < 0.05). Conclusions:The expressions of IGF-1 and IGFBP2 in the ankle cartilage of KBD patients are significantly higher. Silencing IGFBP2 gene can reduce the inhibitory effect of T-2 toxin on chondrocyte activity and the secretion of sGAG.

Pheochromocytoma/paraganglioma(PPGL) was a kind of neuroendocrine tumor that derived from chromaffin tissue, which seems to be an important etiology of secondary hypertension. With the development of molecular detection technology, at least 17 kinds of pathogenic genes of PPGL has been discovered, which is related to 35%-40% PPGL, and about 40% malignant PPGL is associated with SDHB gene mutation. In this study, we reported a case with a novel splicing mutation of SDHB gene induced paraganglioma.

Objective:To detect the expression levels of interleukin (IL)-1β, insulin-like growth factors (IGF)-1 in serum and synovial fluid of patients with Kaschin-Beck disease (KBD) and osteoarthritis (OA) and analyze the relationship between IL-1β, IGF-1 levels and visual analogue scale (VAS) score.Methods:From January 2010 to December 2016, 60 patients visited the department of orthopedics of Shaanxi Provincial People's Hospital were selected, included 20 patients with KBD (arthroscopic debridement of ankle), 20 patients with OA (arthroscopic debridement of ankle), and 20 patients with ankle fracture (no talus injury) as control group. The peripheral blood and synovial fluid samples from the patients were collected. Enzyme-linked immunosorbent assay was used to detect the expression levels of IL-1β, IGF-1 in serum and synovial fluid. In each group, VAS score was calculated pre-operative and post-operative at 3, 7, 14 and 28 d. The relationship between IL-1β, IGF-1 levels and VAS score was evaluated by correlation analysis.Results:Synovial fluid IL-1β and IGF-1 levels in the KBD and OA groups were (67.32 ± 6.22), (56.46 ± 5.43) and (24.36 ± 6.22), (21.45 ± 4.35) pg/ml, respectively, which were higher than those in the control group [(27.01 ± 3.15), (10.21 ± 2.50) pg/ml, P < 0.05]. Meanwhile, serum IL-1β and IGF-1 levels in the KBD and OA groups were higher than those in the control group ( P < 0.05). Pearson correlation analysis showed that the expression levels of IL-1β and IGF-1 in serum pre-operative and post-operative at 3, 7, 14 and 28 d were positively correlated with VAS score in KBD and OA groups, respectively ( r = 0.427, 0.502, 0.562, 0.628, P < 0.05). Conclusion:The levels of IL-1β and IGF-1 in synovial fluid from ankle joints and serum are significantly increased in KBD group and OA group, and the levels of IL-1β and IGF-1 in serum are positively correlated with VAS score, respectively.

Objective:To explore the imaging rate and diagnostic rate of positioning the fetal conus medullaris by three-dimensional ultrasound method to detect atlantoaxial intervertebral space, comparing it with the traditional two-dimensional and three-dimensional ultrasound methods.Methods:Consecutively 318 singleton fetuses received routine ultrasound screening during the second trimester were enrolled from November 2017 to December 2018 in Shenzhen Luohu People′s Hospital and Shenzhen People′s Hospital. These fetuses included 276 normal cases and 42 abnormal cases. The abnormal group contained 11 cases tethered cords fetuses(tethered cords group) and 31 cases non-tethered fetuses(non-tethered group). A new ultrasound method named detecting atlanto-axial intervertebral space with three-dimensional ultrasound and traditional two-dimensional and three-dimensional ultrasound methods were used to acquire and store the images. The positions of the fetal conus medullaris were analyzed blindly and recorded by three experienced physicians using three different methods with off-line software.Results:①The χ 2 test comparing multiple sample rates was used to compare the imaging acquisition success rate of fetal conus medullaris by three ultrasound methods. The test level was adjusted to be α′=0.05/4=0.0125, the results showed that there were no statistically significant differences between the three methods in the normal group (χ 2=7.39, P=0.025) and the abnormal group (χ 2=5.32, P=0.070). ②The χ 2 test comparing multiple sample rates was used to compare the diagnostic accuracy of fetal conus medullaris position in normal group by three methods, it showed there was no significant difference in the correct rate of conus medullaris position in the normal group (χ 2=2.52, P=0.284). ③The χ 2 test comparing multiple sample rates was used to compare the diagnostic accuracy of the fetal conus medullaris in tethered cord group and non-tethered group using 3 methods, the difference was not statistically significant in tethered cord group (χ 2=1.22, P=0.543), while the difference was statistically significant in non-tethered group(χ 2=9.69, P=0.008). Conclusions:The method of detecting atlanto-axial intervertebral space with three-dimensional ultrasound has a high imaging rate and diagnostic accuracy in positioning the fetal conus medullaris. Positioning of fetal conus medullaris by detecting atlanto-axial intervertebral space with three-dimensional ultrasound is better than traditional two-dimensional and three-dimensional ultrasound in the abnormal non-tethered fetuses, which can provide more valuable information for prenatal diagnosis consultation and prenatal and postnatal care.

With high accuracy and precision,next generation sequencing (NGS) has provided a powerful tool for clinical testing of genetic diseases.To follow a standardized experimental procedure is the prerequisite to obtain stable,reliable,and effective NGS data for the assistance of diagnosis and/or screening of genetic diseases.At a conference of genetic testing industry held in Shanghai,May 2019,physicians engaged in the diagnosis and treatment of genetic diseases,experts engaged in clinical laboratory testing of genetic diseases and experts from third-party genetic testing companies have fully discussed the standardization of NGS procedures for the testing of genetic diseases.Experts from different backgrounds have provided opinions for the operation and implementation of NGS testing procedures including sample collection,reception,preservation,library construction,sequencing and data quality control.Based on the discussion,a consensus on the standardization of the testing procedures in NGS laboratories is developed with the aim to standardize NGS testing and accelerate implementation of NGS in clinical settings across China.

Bioinformatic analysis and variant classification are the key components of high-throughput sequencing-based genetic diagnostic approach.This consensus is part of the effort to develop a standardized process for next generation sequencing (NGS)-based test for germline mutations underlying Mendelian disorders in China.The flow-chart,common software,key parameters of bioinformatics pipeline for data processing,annotation,storage and variant classification are reviewed,which is aimed to help improving and maintaining a high-quality process and obtaining consistent outcomes for NGS-based molecular diagnosis.