A female infant with ambiguous genitalia, identified at 26 days postnatal, was admitted to the Second Xiangya Hospital, Central South University. Genetic testing was performed on the child's pedigree using multiplex ligation-dependent probe amplification, Sanger sequencing, and whole genome sequencing, which revealed a compound heterozygous variation in the CYP21A2 gene. The specific mutation sites were indeterminate, and third-generation gene sequencing technology, single- molecule real-time sequencing, subsequently identified a chimera-8 type variant of CYP21A1P/CYP21A2 fusion gene and a c.332_339del compound heterozygous variation in the infant. The genotype matched the phenotype, leading to a diagnosis of salt-wasting 21-hydroxylase deficiency, a rare genetic disorder. The infant was treated with hydrocortisone and fludrocortisone replacement therapy, which effectively controlled the condition. At 8 months old, the infant underwent surgery to correct the appearance of the external genitalia, with a favorable prognosis.

Objective To design a mobile personnel radiation protection equipment for operation in environments with high radiation such as spent fuel reprocessing plants, to achieve simultaneous protection against γ radiation, neutron radiation, and radioactive aerosol, to reduce the internal and external exposure dose of radioactive workers, and to meet the requirement of operation for two hours. Methods The core parts of the mobile personnel radiation protection equipment included a shielding chamber and a respiratory maintenance system. An automated chassis was used for the movement and lifting of the shielding chamber. MCNP software was used to simulate and calculate the protective effects of shielding chamber made of different materials and material thicknesses. Experimental verification of the shielding chamber design was conducted. Mathematical models were established to describe the variations in the content of various gases in the chamber with personnel operation time. A respiratory maintenance system, a harmful gas absorption device, and an automated mobile chassis were designed. Results The shielding chamber made of polyethylene with a thickness of 80 mm achieved an 80% neutron shielding rate. The respiratory maintenance system could support workers for 2 hours of operation inside the equipment. The mobile chassis allowed operation of the equipment with one person. Conclusion This mobile personnel radiation protection equipment can solve the problem in simultaneous protection against γ radiation, neutron radiation, and radioactive aerosol. The equipment can provide radiation protection for radioactive workers, reduce exposure dose, and reduce personnel burden. This system provides technical means for the operation and maintenance of equipment in high-radiation sites such as spent fuel reprocessing plants.

The correlation between hearing loss (HL) and physical performance in patients receiving maintenance hemodialysis (MHD) remains poorly investigated. This study explored the association between HL and physical performance in patients on MHD. Methods: This multicenter cross-sectional study was conducted between July 2020 and April 2021 in seven hemodialysis centers in Shanghai and Suzhou, China. The hearing assessment was performed using pure-tone average (PTA). Physical performance was assessed using the Timed Up and Go Test (TUGT), handgrip strength, and gait speed. Results: Finally, 838 adult patients (male, 516 [61.6%]; 61.2 ± 2.6 years) were enrolled. Among them, 423 (50.5%) had mild to profound HL (male, 48.6% and female, 53.4%). Patients with HL had poorer physical performance than patients without HL (p < 0.001). TUGT was positively correlated with PTA (r = 0.265, p < 0.001), while handgrip strength and gait speed were negatively correlated with PTA (r = –0.356, p < 0.001 and r = –0.342, p < 0.001, respectively). Physical performance in patients aged <60 years showed significant dose-response relationships with HL. After adjusting for confounders, the odds ratios (95% confidence intervals) for HL across the TUGT quartiles (lowest to highest) were 1.00 (reference), 1.15 (0.73–1.81), 1.69 (1.07–2.70), and 2.87 (1.69–4.88) (p for trend = 0.005). Conclusion: Lower prevalence of HL was associated with a faster TUGT and a stronger handgrip strength in patients on MHD.

A female infant with ambiguous genitalia, identified at 26 days postnatal, was admitted to the Second Xiangya Hospital, Central South University. Genetic testing was performed on the child's pedigree using multiplex ligation-dependent probe amplification, Sanger sequencing, and whole genome sequencing, which revealed a compound heterozygous variation in the CYP21A2 gene. The specific mutation sites were indeterminate, and third-generation gene sequencing technology, single- molecule real-time sequencing, subsequently identified a chimera-8 type variant of CYP21A1P/CYP21A2 fusion gene and a c.332_339del compound heterozygous variation in the infant. The genotype matched the phenotype, leading to a diagnosis of salt-wasting 21-hydroxylase deficiency, a rare genetic disorder. The infant was treated with hydrocortisone and fludrocortisone replacement therapy, which effectively controlled the condition. At 8 months old, the infant underwent surgery to correct the appearance of the external genitalia, with a favorable prognosis.

Objective:To explore the association between weight status and early changes in blood pressure, cardiac structure and function in children at 4 years of age.Methods:A cross-sectional study of the relationship between weight status and cardiovascular parameters was performed on the platform of "Shanghai Birth Cohort" in Shanghai Xinhua Hospital between 2017 and 2020. Height, weight, blood pressure and echocardiography were measured in 1 477 children at 4 years of age. According to body mass index (BMI), participants were classified into five groups: underweight, lean, normal weight, overweight and obese. Blood pressure, cardiac structure and function indexes were compared among different groups using one-way ANOVA. The associations between blood pressure, cardiac structure and function and weight status in children were analyzed by linear regression models. Multivariate logistic regression models were used to analyze whether weight status was an independent risk factor for elevated blood pressure or left ventricular hypertrophy (LVH) in children.Results:A total of 1 477 children including 772 boys and 705 girls were included in this study. There were 115 overweight and obese boys (14.9%) and 68 overweight and obese girls (9.6%). The majority of children had normal weight (916 cases, 62.0%), followed by underweight (303 cases, 20.5%), overweight (130 cases, 8.8%), lean (75 cases, 5.1%), and obese (53 cases, 3.6%). With the increase of BMI, systolic blood pressure, diastolic blood pressure, left ventricular mass index (LVMI), left ventricular posterior wall thickness in systole, left ventricular posterior wall thickness in diastole, left ventricular diameter in end-systole, left ventricular diameter in end-diastole, interventricular septum thickness in systole and left ventricular ejection fraction showed significantly positive trend, and the differences among the groups were significant (F=31.73, 6.59, 14.22, 4.96, 3.01, 31.50, 39.79, 5.91, 3.09, all P<0.05). Multiple linear regression showed that overweight and obese were all positively associated with systolic blood pressure (β=5.2, 95% CI 3.6-6.8), LVMI (β=1.9, 95% CI 0.8-3.1), left ventricular diameter in end-systole (β=1.3, 95% CI 0.9-1.8), and left ventricular diameter in end-diastole (β=1.6, 95% CI 1.0-2.2). In the Logistic regression model, compared with normal weight children, overweight ( OR=2.37, 95% CI 1.37-4.41) and obese children ( OR=10.90, 95% CI 4.47-26.60) both had significantly increased risk of elevated blood pressure. However, the risk of LVH did not significantly increased. Conclusions:Overweight and obesity in 4-year-old children are associated with increased blood pressure, increased left ventricle diameter and LVMI. Overweight and obesity are independent risk factors for elevated blood pressure in children at 4 years of age.

Objetive： To investigate the mechanism of antidepressant effect of verbascoside based on high-throughput sequencing technology （RNA-Seq），and to explore the possible targets and signaling pathways. MethodsForty C57BL/6 mice were randomly divided into control group，model group，fluoxetine group and verbascoside group，10 mice in each group. Except for the control group，all the other three groups were constructed with chronic unpredictable mild stimulation （CUMS） combined with solitary feeding for four weeks. Control group，fluoxetine group and verbascoside group were administered by gavage once daily for three weeks during the second week of modeling. The mice were assessed by sugar-water preference test，forced swimming test，open field test，elevated cross maze test，and water maze test. Enzyme linked immunosorbent assay（ELISA） was performed to detect the levels of major neurotransmitters and inflammatory factors in mice serum，and mRNA high-throughput sequencing was performed in the nucleus accumben and colon to screen differentially expressed genes and perform pathway enrichment analysis. Real-time polymerase chain reaction（Real-time PCR） was used to detect the mRNA expression of Gad，Slc32a1（VGAT） and brain-derived neurotrophic factor (BDNF） in nucleus accumbens. ResultCompared with the control group，the anxiety and depression-like behaviors in the model group increased，while the learning and memory ability decreased significantly. The content of neurotransmitter in serum decreased significantly. The content of pro-inflammatory factors increased significantly. The mRNA expression of Gad and Slc32a1（VGAT） in nucleus accumbens decreased significantly，while that of BDNF increased significantly. Compared with the model group，the anxiety and depression-like behavior of mice in verbascoside group was significantly relieved. The neurotransmitter content increased significantly，and the pro-inflammatory factors decreased significantly. The mRNA expression of Gad and Slc32a1（VGAT） in nucleus accumbens increased significantly，while that of BDNF decreased significantly.A total of 48 differentially expressed genes in nucleus accumbens and 43 differentially expressed genes in colon were screened by high-throughput sequencing. Differential genes in nucleus accumbens mainly focus on neuroactive ligand-receptor interaction， γ-aminobutyric acid（GABA）ergic synapse，synaptic vesicle cycle and other pathways. Colonic differential genes are mainly concentrated in GABAergic synapses，synaptic vesicle circulation，cyclic adenosine monophosphate（cAMP） signal pathway and other signal pathways. Compared with the control group，the mRNA expression of Gad and Slc32a1（VGAT） in nucleus accumbens of model group decreased significantly，while the mRNA expression of BDNF increased significantly. ConclusionVerbascoside has significant antidepressant effects. Its antidepressant effect may be related to the increase of monoamine neurotransmitters，the decrease of pro-inflammatory factors and the restoration of neurotransmitter homeostasis by increasing GABA，and it mainly acts through the signaling pathways such as neuroactive ligand-receptor interaction，GABAergic synapses，synaptic vesicle cycle and cAMP signaling pathway.

Hydrogen sulfide (H

Recently, accumulating evidence suggests that high bilirubin level is involved in the pathophysiology of schizophrenia. High bilirubin level during early childhood may increase the risk of being suffered from schizophrenia after adulthood, and schizophrenia patients with high bilirubin level have aggravated psychiatric symptoms. As compared with other psychiatric patients and general population, schizophrenia patients usually have relatively higher bilirubin level; high bilirubin level is associated with acute psychotic states, positive symptoms, and poor prognosis in patients with schizophrenia. This article reviews the relation between bilirubin and schizophrenia and its potential pathophysiological mechanism in order to provide a new direction for the study of schizophrenia pathogenesis and auxiliary diagnosis.

Objective To investigate the epidemic characteristics of pulmonary tuberculosis (TB) in Minhang District of Shanghai, and to provide a scientific basis for TB prevention and control. Methods Data from active TB patients registered in Minhang District of Shanghai from 2009 to 2019 was collected and analyzed using descriptive epidemiological method. Results From 2009 to 2019 the registration rates of TB patients in Minhang district of Shanghai showed a downward trend, with an average annual registration rate of 32.35/100 000, including 3 611 (41.08%) patients who were registered permanent residents of Shanghai and 5 179 (58.92%) patients who were non-permanent residents. The ratio of men to women was 2.04:1. Workers accounted for more cases (22.77%) than other occupations among patients without registered permanent residence, while retirees accounted for the majority of cases (38.60%) among patients with registered permanent residence. Among the TB patients without registered residence, the highest proportion (45.86%) was in the 20-29 years old group, while the highest proportion in permanent residents was in the 50-59 years old group (19.47%). The peak incidence occurred in May in patients without registered permanent residence, while the peak incidence was in June in patients with registered permanent residence. Conclusion It is necessary to strengthen the prevention and control of TB in people without registered permanent residence of Shanghai, and at the same time, to strengthen the prevention and control of TB in old people and students with registered permanent residence of Shanghai.

Objective: To investigate the effect of three-dimensional conformal radiotherapy (3D-CRT) combined with PC chemotherapy (paclitaxel + carboplatin) on non-small cell lung cancer (NSCLC) patients and the serum levels of CA125, tissue inhibitor of metalloproteinase-1 (TIMP-1), serum amyloid A (SAA) and T-lymphocyte subsets. Methods: A total of 100 patients with NSCLC treated in Affiliated Hospital of Guangdong Medical University from May 2015 to December 2017 were selected as the study subjects. They were divided into control group and observation group according to random number table method, with 50 cases in each group. The observation group was treated with 3D-CRT combined with PC chemotherapy, while the control group was treated with PC chemotherapy. The two groups were treated for 4 cycles. The therapeutic effect, serum CA125, TIMP-1, SAA, T-lymphocyte subsets and adverse reactions were compared between the two groups. Results: Four cases were lost to follow-up both in the two groups. The overall response rate in the observation group (43.48%, 20/46) was higher than that in the control group (23.91%, 11/46; χ²=3.941, P=0.047). The serum levels of CA125, TIMP-1 and SAA of the two groups had no significant difference before treatment, and the levels of these indexes decreased after treatment. The serum levels of CA125, TIMP-1 and SAA in the observation group after treatment were (12.31±1.13) U/ml, (275.31±13.69) pg/ml and (47.21±7.21) mg/L, which were lower than those in the control group [(30.36±1.98) U/ml, (320.36±17.23) pg/ml, (65.92±8.36) mg/L], with significant differences (t=53.699, P<0.001; t=13.884, P<0.001; t=11.495, P<0.001). The levels of CD3⁺ , CD4⁺ , CD8⁺ and CD4⁺ /CD8⁺ of the two groups had no significant difference before treatment, and the levels of these indexes decreased after treatment. The levels of CD3⁺ , CD4⁺ , CD8⁺ and CD4⁺ /CD8⁺ in the observation group were (35.27±10.31)%, (20.27±6.72)%, (15.89±3.37)% and 0.91±0.37, which were higher than those in the control group [(30.77±9.27)%, (15.27±5.73)%, (12.02±2.69)% and 0.75±0.39], with significant differences (t=2.201, P=0.030; t=3.840, P<0.001; t=6.087, P<0.001; t=2.019, P=0.047). There were no significant differences in the adverse reactions such as nausea and vomiting [63.04% (29/46) vs. 43.48% (20/46); χ²=3.537, P=0.060], phlebitis [6.52% (3/46) vs. 4.35% (2/46); χ²=0.000, P>0.999], abnormal liver function [6.52% (3/46) vs. 2.17% (1/46); χ²=0.261, P=0.609] and myelosuppression [8.70% (4/46) vs. 6.52% (3/46); χ²=0.000, P>0.999] between the observation group and the control group. Conclusion For patients with NSCLC, 3D-CRT combined with PC chemotherapy can improve the overall response rate, decrease the levels of serum CA125, TIMP-1 and SAA, and improve the immune function of patients. The therapeutic effect is remarkable and the safety is good. The therapeutic scheme is suitable for the treatment of NSCLC.