Objective To analyze the clinical and immunological characteristics of a rare case of CHARGE syndrome,we summarize the genotype and phenotype in the Chinese patient population,and explore the underlying immunopathogenic mechanisms.Methods Clinical data from a pediatric patient with CHARGE syndrome were collected and analyzed.A comprehensive analysis of the Chinese patient population was conducted.Gene analysis and immunological characterization were performed using flow cytometry,deep sequencing,and quantitative PCR.Results The proband was a premature female infant whose primary clinical manifestations included congenital heart disease,recurrent respiratory infections,respiratory failure,airway dysplasia,hearing impairment,and bilateral choroidal coloboma.Whole-exome sequencing revealed a de novo heterozygous nonsense mutation in the CHD7 gene,c.5122C＞T(p.Gln1708Ter),classified as pathogenic according to ACMG criteria.Immunological studies indicated impaired thymic output of T cells,significant alterations in the number and proportion of CD8+T cell subsets,increased apoptosis,and defective activation and production of key effector cytokines such as IFN-γ by CD8+T cells.However,no significant abnormalities were observed in peripheral lymphocyte proliferation.Conclusion CHARGE syndrome is a rare autosomal dominant genetic disorder primarily caused by mutations in the CHD7 gene.The main clinical features include ocular defects,cardiac disease,choanal atresia/cleft lip and palate,growth retardation,gonadal hypoplasia,and ear anomalies.This case study suggests that CHARGE syndrome is associated with abnormalities in the development,apoptosis,and effector functions of immune cells.

Dual-energy CT enables acquisition of multi-parametric information beyond conventional CT through various post-processing techniques.Among these,virtual monoenergetic imaging has demonstrated outstanding performance in improving image quality,facilitating diagnosis,detecting isodense and small lesions,optimizing angiographic protocols,and reducing contrast medium dosage and radiation exposure.This article reviews the fundamental principles,technical advantages,and emerging clinical applications of virtual monoenergetic imaging.

Objective To analyze the clinical and immunological characteristics of a rare case of CHARGE syndrome,we summarize the genotype and phenotype in the Chinese patient population,and explore the underlying immunopathogenic mechanisms.Methods Clinical data from a pediatric patient with CHARGE syndrome were collected and analyzed.A comprehensive analysis of the Chinese patient population was conducted.Gene analysis and immunological characterization were performed using flow cytometry,deep sequencing,and quantitative PCR.Results The proband was a premature female infant whose primary clinical manifestations included congenital heart disease,recurrent respiratory infections,respiratory failure,airway dysplasia,hearing impairment,and bilateral choroidal coloboma.Whole-exome sequencing revealed a de novo heterozygous nonsense mutation in the CHD7 gene,c.5122C＞T(p.Gln1708Ter),classified as pathogenic according to ACMG criteria.Immunological studies indicated impaired thymic output of T cells,significant alterations in the number and proportion of CD8+T cell subsets,increased apoptosis,and defective activation and production of key effector cytokines such as IFN-γ by CD8+T cells.However,no significant abnormalities were observed in peripheral lymphocyte proliferation.Conclusion CHARGE syndrome is a rare autosomal dominant genetic disorder primarily caused by mutations in the CHD7 gene.The main clinical features include ocular defects,cardiac disease,choanal atresia/cleft lip and palate,growth retardation,gonadal hypoplasia,and ear anomalies.This case study suggests that CHARGE syndrome is associated with abnormalities in the development,apoptosis,and effector functions of immune cells.

Dual-energy CT enables acquisition of multi-parametric information beyond conventional CT through various post-processing techniques.Among these,virtual monoenergetic imaging has demonstrated outstanding performance in improving image quality,facilitating diagnosis,detecting isodense and small lesions,optimizing angiographic protocols,and reducing contrast medium dosage and radiation exposure.This article reviews the fundamental principles,technical advantages,and emerging clinical applications of virtual monoenergetic imaging.

Objective To explore the value of multiparameter MRI for follow-up observation on changes of spinal cord microstructures in patients with hereditary spastic paraplegias type 5.Methods Eleven patients with SPG5 who underwent cervico-thoracic spinal cord MR examination and spastic paraplegia rating scale(SPRS)were prospectively enrolled.The second MR examination and SPRS were completed after 1 year follow-up,and the changes of SPRS score,the overall structures and microstructures of spinal cord were compared.Results No significant difference of SPRS scores was found(P＞0.05).Compared to the first cervico-thoracic spinal cord MR examination,atrophy of spinal cord aggravated in the second time MRI.Significant difference of axial diffusivity of C4 right corticospinal tract(CST)was found(t=3.987,P＜0.01),but not of the other parameters of C4(all P＞0.05)between the first and the second time MRI.No significant difference of fractional anisotropy(FA),mean diffusivity(MD),AD,radial diffusivity(RD)nor T1 value of the other centrums'white matter,posterior funiculus or bilateral CST in spinal cord was found between the first and the second time MRI(all P＞0.05).Meanwhile,no significant difference of CSA,left and right diameter nor anteroposterior diameter of C1-T9 was found between the first and second time MRI(all P＞0.05).FA value of white matter,posterior funiculus and bilateral corticospinal tract in cervical spinal cord were all lower,whereas RD value at the above position were all higher in the second time MRI than those in the first time MRI(all P＞0.05).Conclusion Multiparameter MRI could be used for follow-up observation on changes of microstructure spinal cord in patients with hereditary spastic paraplegias type 5.

Objective:To explore whether the food additive sodium benzoate(NAB) induces pancreatic inflammation and β cell apoptosis through the benzoylation(Kbz) modification pathway.Methods:In vivo experiments: C57BL/6J male mice(8 weeks old, 18-20 g) were randomly divided into normal control group(double distilled water feeding) and NAB feeding group(1 g/kg NAB feeding). Blood glucose were measured. After 20 weeks, fasting serum insulin, interleukin(IL)-18, IL-1β, and benzoyl-CoA levels were detected by ELISA method. Bax, IL-18, Pan-Kbz and Pan-Kac were detected by immunohistochemistry staining. In vitro experiments: β-TC-6 cells were cultured with NAB(6 mmol/L) or benzoyl-CoA(100 μmol/L) as stimulator and acyltransferase P300 inhibitor A485(10 μmol/L) as intervention factor. 24 hours later, inflammation, apoptosis, insulin secretion and Pan-Kbz level were detected by qRT-PCR, ELISA and Western blotting.Results:In the in vivo experiments, compared to the NC group, mice in the NAB group exhibited impaired glucose tolerance, decreased fasting insulin levels, significantly increased serum benzoyl coenzyme A concentrations, relatively elevated pancreatic IL-1β, IL-18, and Bax protein expressions, increased levels of Pan-Kbz, while Pan-Kac levels were downregulated(all P<0.05); In vitro experiments, NAB dose-dependently inhibited insulin secretion, promoted the release of Pan-Kbz and inflammatory factors IL-18 and TNF- α, inhibited Bcl-2 expression and up-regulated Bax expression, A485 reversed NAB-induced Pan-Kbz modification, improved NAB-induced inflammation and apoptosis, and promoted insulin secretion(all P<0.05). Conclusion:NAB may induce pancreatic inflammation, β-cell apoptosis, and impair insulin secretion through Kbz modification pathway.

Objective:To investigate the feasibility of using spectral CT chest enhancement venous phase images to obtain virtual non-contrast (VNC) images and virtual arterial phase images to achieve one phase scan instead of three phase scans.Methods:Imaging data of 100 patients who underwent spectral CT chest plain and dual-phase enhancement scans at the First Affiliated Hospital of Kunming Medical University from January to May 2022 were analyzed retrospectively. The venous phase images of all patients were post-processed to obtain virtual non contrast (VNC) and 40 keV virtual mono-energy images (VMI) for simulated arterial phase images (Vart). Image quality and lesion detection were compared between true non-contrast (TNC) and VNC images, and conventional arterial phase (CIart) and Vart images by paired t-test, Wilcoxon test and McNemar test. Objective evaluation indexes of image quality included thoracic aorta, all levels of pulmonary artery, T4 vertebral bone cancellous, chest wall fat CT value, background noise, signal-to-noise ratio (SNR), and contrast-to-noise ratio (CNR); the subjective score of image quality was assessed by double-blind method on a 5-point scale; the assessment of lesion detection included the detection rate of calcified foci and pulmonary nodules size, density, volume, percentage of solid components and imaging characteristics. Results:Except for chest wall fat and T4 vertebral bone cancellous, the differences in CT values between VNC and TNC images were not statistically significant ( P>0.05); Except for right upper pulmonary artery and right lower pulmonary artery, the differences in background noise values and SNR between TNC images and VNC images were statistically significant ( P<0.05). Compared with CIart images, the CT values of chest wall fat were lower in Vart images ( P<0.05), and the CT values of the remaining sites were significantly higher ( P<0.05); the background noise values of all sites on Vart images were smaller than those on CIart images, and the SNR and CNR values were higher than those on CIart images ( P<0.05).The differences of subjective scores of images quality were not statistically significant between TNC and VNC images, between CIar and Vart images ( P>0.05). Taking TNC as the standard, the overall detection rate of VNC for calcification was 88.53% (301/340). Except for the short diameter of partially solid nodules, the differences of qualitative and quantitative assessment indexes of lung nodules between TNC and VNC images were not statistically significant ( P>0.05). Conclusions:Spectral CT chest venous phase 40 keV VMI can simulate arterial phase images in the diagnosis of vascular lesions, and venous phase VNC basically meets the standard of conventional plain scan, so it is feasible to replace plain scan, arterial phase and venous phase images in a certain range.

This paper summarized professor ZHANG Lei′s experience in treating scleroderma from “extraordinary pathogens entering collaterals”. The basic pathogenesis of scleroderma is “extraordinary pathogens entering the collaterals”， and extraordinary pathogens can be divided into external and internal categories. External extraordinary pathogens are mostly exogenous wind， cold and damp pathogens， and the pathogenesis is wind， cold and damp invading skin stria and retaining collaterals. Most of the endogenous extraordinary pathogens are turbid phlegm and blood stasis， and the pathogenesis is endogenous phlegm and stasis leaving the channels and overflowing the collaterals， and blocking the collaterals. Blocked by extraordinary pathogens for a long time， the long illness will lead to deficiency and develop into a syndrome of collaterals excess and channels deficiency. Therefore， professor ZHANG creats Tengluo Beverage （藤络饮） as the basic formula to unblock collaterals and dispel pathogens， and recommends to add or subtract it according to the different syndrome and pathogenic characteristics of the edema stage， sclerosis stage， and atrophy stage. In the edema stage， it is advised to expel wind， remove dampness and unblock the collaterals， while in the sclerosis stage， the method of dissolving phlegm， expelling stasis and unblocking collaterals should be used； in the atrophic stage， it is suggested to differentiate the deficiency of qi， blood， yin and yang， and eliminate extraordinary pathogens on the basis of reinforcing healthy qi .

Objective To investigate the clinical effect of free posterior interosseous artery perforator flap combined with muscle fascia for repairing soft tissue and extensor tendon defect of hand.Methods Fifteen cases of hand skin soft tissue and extensor tendon defect admitted to Ningbo No.6 Hospital from December 2017 to December 2020 were repaired with free posterior interosseous artery perforator flap combined with extensor carpi ulnaris muscle fascia transplantation,and curative effect was observed.Results All flaps survived and patients were followed up for 6-24 months.The texture and thickness of the flap were satisfactory,and the recovery of the finger extension and flexion function were good.The excellent and good rate of hand tendon repair was 66.7%.In three cases with nerve anastomosis,the skin flap sensation recovered to S3.Conclusion The free posterior interosseous artery perforator flap combined with muscle fascia has a good clinical effect in repairing hand skin soft tissue and tendon defect.

Objective:Using the information technology of knowledge element theory to analyze the content of the ancient Chinese medicine book Nv Ke Xin Fa, and to explore the original thinking and implicit knowledge of the author of the book Nv Ke Xin Fa. Methods:Based on the theory and technology of knowledge element, the indexing data was read as logical data by using MS SQL Server database and then the knowledge graph of traditional Chinese medicine was constructed by using neo4j database.Results:There are 345 knowledge bodies and 1 478 knowledge elements in the Nv Ke Xin Fa, mainly including prescription name (280), composition (275) and usage (224); There are 711 semantic types, mainly including prescriptions (232), etiology and pathogenesis (221), syndrome manifestations (125) and treatment (88); 187 semantic associations, mainly syndrome differentiation and treatment (172); Knowledge of semantic association.There are 34 body types, with leucorrhea (16), amenorrhea (13), blood Avalanche (13) and asthenia (13). Conclusions:Zheng Qinyu paid attention to distinguishing the texture of leucorrhea in the treatment of leucorrhea, put forward the pathogenesis and treatment principles and methods of leucorrhea in the stages of "before childbirth" and "after childbirth", and made it clear that the application scope of Buzhong Yiqi Decoction involves menstruation, leucorrhea, pregnancy and the whole cycle of childbirth.Mrs Zheng Qinyu pays great attention to the protection on the spleen and stomach of the middle coke and regulation of Qi that could rise and fall, which could provide a reference for modern clinical diagnosis and treatment of leukorrhagia diseases.