Objective To investigate the role of mitochondrial antiviral signaling protein(MAVS)in viral infection-triggered generalized pustular psoriasis(GPP)in children.Methods This retrospective case-control study enrolled 80 GPP patients aged 0～18 years from Children's Hospital of Chongqing Medical University(from October 2013 to April 2019).Whole-exome sequencing identified rare MAVS variants associated with GPP.Pathogenicity of variants was predicted using Mutation Taster,Disease Association,SIFT,and CADD bioinformatics tools.Sanger sequencing validated variants,followed by construction of wild-type(WT)and mutant MAVS expression plasmids transfected into HEK 293 cells.Protein expression was assessed by Western blot.Dual-luciferase reporter gene assays measured IFNB1 and NF-κB transcriptional activity.Genotype distribution of the MAVS c.171dupT/p.H57fs variant was analyzed using Fisher's exact test.Results This study enrolled 80 pediatric GPP patients(aged 0～18 years).Whole-exome sequencing identified five rare MAVS variants,with bioinformatics analyses predicting deleterious effects on protein stability and function.Western blot demonstrated that the c.171dupT mutation in GPP patients significantly reduced full-length MAVS expression(P<0.001);dual-luciferase assays further revealed this variant impaired MAVS-mediated IFNB1 transcriptional activation by 85%(P<0.001),abrogated NF-κB signaling pathway activation(P<0.001),but exhibited no dominant-negative effect on wild-type MAVS function(P>0.05).Conclusion The MAVS c.171dupT frameshift variant may contribute to infection-triggered GPP in children,suggesting its potential as a genetic biomarker for GPP susceptibility.

Objective To analyze occupational exposure histories and clinical manifestations in three cases of occupational high altitude disease, and to identify key diagnostic points and prevention and treatment strategies. Methods The basic information, clinical characteristics, and occupational hazard exposure history of three patients with occupational high altitude disease were conducted using the retrospective analysis. Results The reason of these three pariticipants who visited high-altitude areas was work requirements. Case 1 experienced recurrent symptoms of altitude reactions during the prodromal stage and was clinically diagnosed with "high altitude sickness and cerebral edema". During transportation to a lower-altitude area, the patient passed through an area with a higher altitude (4 700 m), resulting in deterioration of the condition. Case 2 developed an upper respiratory tract infection and subsequently engaged in aerobic exercise, which aggravated the condition, eading to coughing up pink frothy sputum, followed by cerebral edema and bilateral pulmonary edema. Both cases developed acute cerebral edema and/or acute pulmonary edema due to severe hypobaric hypoxia and were diagnosed with occupational acute high altitude disease according to the GBZ 92-2008 Diagnostic Criteria of Occupational High Altitude Disease. Case 3 mainly presented with hearing loss, without clinical manifestations of high-altitude pulmonary edema or high-altitude cerebral edema, and thus could not be diagnosed with occupational acute high altitude disease. ConclusionThe key diagnostic criteria for occupational acute high altitude disease include a recent occupational history of working in high altitude environments and the presence of clinical manifestations of high altitude pulmonary edema or high altitude cerebral edema, with exclusion of other diseases presenting with similar symptoms. Preventive measures should be taken before workers enter high-altitude areas. Early symptoms of occupational high altitude disease are easily overlooked, so it is crucial to remain vigilant for warning signs and provide timely treatment.

Acute Gelsemium poisoning is a systemic disease primarily affecting the central nervous system and respiratory symptoms caused by the ingestion of a substantial amount of Gelsemium within a short period. It manifests as sudden onset and rapid progression, primarily caused by accidental ingestion due to misidentification, and posing significant health risks. The compilation of the Technical Plan for Emergency Health Response to Acute Gelsemium Poisoning describes in detail the specialized practice and technical requirements in the process of handling acute Gelsemium poisoning, including accident investigation and management, laboratory testing and identification, in-hospital treatment, and health monitoring. The guidelines clarify key procedures and requirements such as personal protection, investigation elements, etiology determination, medical rescue, and health education. The key to acute Gelsemium poisoning investigation lies in promptly identifying the toxin through exposure history, clinical manifestations, and sample testing. Because there is no specific antidote for Gelsemium poisoning, immediate removal from exposure, rapid elimination of the toxin, and respiratory monitoring are critical on-site rescue measures. Visual identification of food or herbal materials, followed by laboratory testing to determine Gelsemium alkaloids in samples is a rapid effective screening method. These guidelines offer a scientific, objective, and practical framework to support effective emergency responses to acute Gelsemium poisoning incidences.

Two thousand five hundred and sixty swab samples were collected from December 2022 to December 2023 in China.PCR was used to detect FBoV and amplify its VP2 and NS1 gene cod-ing equences,and bioinformatics was used to analyze the genetic diversity of FBoV.The results showed that the total positive rate of FBoV was 4.6％(119/2 560).Genetic variation analysis showed that FBoV existed in a variety of genotypes,and FBOV-1 was the main epidemic type in China.The 15 FBoV-1 strains,four FBoV-2 strains and one FBoV-3 strains identified in this study were genetically close to the strains identified in China,the United States,Thailand,Australia and Portugal.Sequence analysis showed that the identities of amino acid sequence of NS1 and VP2 genes between the sequenced strains and the reference strains were 59.13％-99.25％and 96.41％-100.00％,respectively.The amino acid identities of NS1 and VP2 among the newly sequenced FBoV strains were 60.00％-100.00％and 96.41％-100.00％,respectively,which indicated that the FBov strains circulating in China had great genetic diversity.This study enriched the data for elucidating the epidemic status of FBoV in China,and provided the basis for the subsequent diag-nosis,prevention and control of FBoV.

Two thousand five hundred and sixty swab samples were collected from December 2022 to December 2023 in China.PCR was used to detect FBoV and amplify its VP2 and NS1 gene cod-ing equences,and bioinformatics was used to analyze the genetic diversity of FBoV.The results showed that the total positive rate of FBoV was 4.6％(119/2 560).Genetic variation analysis showed that FBoV existed in a variety of genotypes,and FBOV-1 was the main epidemic type in China.The 15 FBoV-1 strains,four FBoV-2 strains and one FBoV-3 strains identified in this study were genetically close to the strains identified in China,the United States,Thailand,Australia and Portugal.Sequence analysis showed that the identities of amino acid sequence of NS1 and VP2 genes between the sequenced strains and the reference strains were 59.13％-99.25％and 96.41％-100.00％,respectively.The amino acid identities of NS1 and VP2 among the newly sequenced FBoV strains were 60.00％-100.00％and 96.41％-100.00％,respectively,which indicated that the FBov strains circulating in China had great genetic diversity.This study enriched the data for elucidating the epidemic status of FBoV in China,and provided the basis for the subsequent diag-nosis,prevention and control of FBoV.

Ankylosing spondylitis is a chronic immunoinflammatory disease that mainly affects the spine and the sacroiliac joint,the mechanism of which is closely related to signaling pathways,such as osteoprotegerin(OPG)/receptor activator of nuclear factor-κB(RANK)/RANK ligand,mitogen-activated protein kinase(MAPK),Wnt/β-catenin(β-catenin),phosphoinositide 3-kinase/protein kinase B/mammalian target of rapamycin(PI3K/Akt/mTOR).Traditional Chinese medicine has the characteristics of multiple components and targets,and is widely used for the treatment of autoimmune diseases due to its low toxicity,strong specificity,and high efficacy.This review found that monomers and compounds of traditional Chinese medicine can exert anti ankylosing spondylitis effects by intervening in the aforementioned signaling pathways,regulating immune inflammatory responses,and inhibiting biological processes such as bone destruction,ectopic osteogenic differentiation,cell apoptosis,and autophagy.

Objective To analyze the epidemiological characteristics and related occupational diagnosis situations of occupational heat illness (OHI) diagnosed by Guangdong Province Hospital for Occupational Disease Prevention and Treatment (GDHOD) from 2011 to 2022. Methods A total of 203 patients who applied for OHI diagnosed in GDHOD from 2011 to 2022 were recruited as research subjects using the retrospective analysis method. Clinical data of OHI diagnosed cases was collected from "Occupational Diseases and Hazards Monitoring Information System" under "China Disease Prevention and Control Information System", and data of cases that diagnosed as non-OHI were collected from the occupational disease diagnosis file of GDHOD for retrospective analysis. Resultsi) The number of OHI diagnosed patients was 174 among 203 cases, with a rate of 85.7%. ii) The heat stroke accounted for 72.4% with a mortality rate of 7.5%, male patients accounted for 86.2% among the 174 OHI diagnosed cases. The median age of onset was 47 years, and patients aged 45-60 years accounting for 56.3%. The median working period of onset of illness was 80 days, with 20.1%, 40.8%, 53.4% and 70.1% of cases occurring within 1, 30, 90 and 365 days of working, respectively. The patients were concentrated in the Pearl River Delta region, accounting for 93.1%. The peak incidence of OHI occurred from May to September, accounted for 96.6%, with the highest incidence occurred in July. About 67.3% of cases occurred on days when the maximum temperature was ≥35.0 ℃. Cases occurred between 12:00 and 18:00 accounting for 74.1%, and cases occurred within 8 hours of work accounting for 75.2%. OHI of patients occurred during operations in non-heat-source workshops accounted for 43.7% of cases, while outdoor operations accounted for 39.7%. OHI patients in manufacturing and small private enterprises accounted for 55.2% and 62.6%, and the main occupations were workshop operators, loaders/unloaders, and sanitation workers, comprising 63.2% of cases. iii) Among the 29 cases diagnosed as non-OHI, accounting for 86.2% patients with high-temperature work history who did not meet clinical diagnostic criteria, most of them were diagnosed as OHI precursor. Conclusion OHI patients in Guangdong Province predominantly occur in summer and autumn, with heat stroke being the primary condition. Middle-aged males, workers in non-heat-source workshops and outdoor settings have higher risk of OHI. OHI cases are concentrated in specific region and enterprise. The OHI prevention should be enhanced on high-risk workers, who work in the Pearl River Delta region, manufacturing, and small private enterprises.

Objective:To develop a homogeneous management evaluation system for clinical observership teaching under the background of national first-class discipline construction.Methods:The preliminary contents of the assessment system were determined through a literature review and expert interviews, and two rounds of questionnaire-based consultation was conducted with 20 experts using the Delphi method. With the use of Excel 2016 and SPSS 26.0, we calculated the coefficient of judgement basis (Ca), the coefficient of familiarity (Cs), the coefficient of authority (Cr), and Kendall's coefficient of concordance ( W ) as well as the mean, standard deviation, and coefficient of variation of all parameters, to identify the specific items and weights for the homogeneous management evaluation system for clinical observership teaching under the background of national first-class discipline construction. Results:In the two rounds of consultation, experts were both 100.00% active in responding to the questionnaires; the coefficients of authority of experts were 0.889 and 0.935, respectively; the coefficients of familiarity were 0.856 and 0.936, respectively; the coefficients of judgment were 0.922 and 0.934, respectively; and Kendall's coefficients of concordance were 0.476 and 0.563, respectively. Finally, 7 first-level items and 21 second-level items were included in the content framework of the homogeneous management evaluation system.Conclusions:The construction process of the homogeneous management evaluation system of clinical observership teaching is complete and reliable, which can provide a reference for the homogeneous management of clinical observership teaching, but further verification and improvement are needed.

AIM: To evaluate the changes in corneal epithelial thickness(CET)and corneal optical density(CD)after smart pulse technology(SPT)-assisted transepithelial photorefractive keratectomy(TPRK)and analyze their correlation.METHODS: The prospective study included 60 patients(120 eyes)with myopia and myopic astigmatism who underwent SPT-TPRK in the ophthalmology department at the First Affiliated Hospital of Xinxiang Medical University between February and August 2023. Changes in CET and CD were evaluated preoperatively and at 1 wk, 1 and 3 mo postoperatively.RESULTS: A total of 14 cases(28 eyes)were lost to follow-up, and 3 patients(6 eyes)with postoperative haze were excluded from this study, resulting in a final inclusion of 43 patients(86 eyes). At 1 wk after SPT-TPRK, CET had statistically significantly thickened compared to preoperative levels(P<0.05), particularly in the CET at 0-2 mm central corneal area(P<0.05). At 1 mo after SPT-TPRK, the CET at 0-2 mm area had statistically significantly decreased(P<0.05). At 3 mo after SPT-TPRK, the CET at 0-2 mm had essentially reached preoperative levels. Postoperative CD values increased, with a positive correlation between CET in the 0-2 mm area and CD in the whole 0-2 mm area(r=0.256, P<0.05), and a positive correlation between CET in the 2-5 mm area and CD in the anterior 2-6 mm area(r=0.319, P<0.05).CONCLUSION: Corneal epithelial remodeling takes 3 mo in areas within 2 mm of the central cornea; areas with thinner CET have faster postoperative corneal epithelial remodeling and greater thickening in the early postoperative period; CD increases in the early postoperative period compared to the preoperative value, and in some areas, there is a positive correlation between CET and CD value.

Here, we report a previously unrecognized syndromic neurodevelopmental disorder associated with biallelic loss-of-function variants in the RBM42 gene. The patient is a 2-year-old female with severe central nervous system (CNS) abnormalities, hypotonia, hearing loss, congenital heart defects, and dysmorphic facial features. Familial whole-exome sequencing (WES) reveals that the patient has two compound heterozygous variants, c.304C>T (p.R102*) and c.1312G>A (p.A438T), in the RBM42 gene which encodes an integral component of splicing complex in the RNA-binding motif protein family. The p.A438T variant is in the RRM domain which impairs RBM42 protein stability in vivo. Additionally, p.A438T disrupts the interaction of RBM42 with hnRNP K, which is the causative gene for Au-Kline syndrome with overlapping disease characteristics seen in the index patient. The human R102* or A438T mutant protein failed to fully rescue the growth defects of RBM42 ortholog knockout ΔFgRbp1 in Fusarium while it was rescued by the wild-type (WT) human RBM42. A mouse model carrying Rbm42 compound heterozygous variants, c.280C>T (p.Q94*) and c.1306_1308delinsACA (p.A436T), demonstrated gross fetal developmental defects and most of the double mutant animals died by E13.5. RNA-seq data confirmed that Rbm42 was involved in neurological and myocardial functions with an essential role in alternative splicing (AS). Overall, we present clinical, genetic, and functional data to demonstrate that defects in RBM42 constitute the underlying etiology of a new neurodevelopmental disease which links the dysregulation of global AS to abnormal embryonic development.
Female ; Animals ; Mice ; Humans ; Child, Preschool ; Intellectual Disability/genetics* ; Heart Defects, Congenital/genetics* ; Facies ; Cleft Palate ; Muscle Hypotonia