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

Objective To discuss the application of the"rotating guidewire and correcting the filter recovery hook direction technique"("rotation-correction loop technique"for short),a technique invented by the authors in clinical practice,in the retrieval of complex inferior vena cava filter(IVCF),and to discuss its technical skills and advantages.Methods The clinical data of 417 patients carrying an IVCF,who were admitted to the Department of Vascular Surgery of Second Hospital of Shanxi Medical University of China to retrieve IVCF between January 2022 and December 2022,were retrospectively analyzed.Taking the time spent on the retrieval of IVCF and the intraoperative radiation dose as the evaluation indicators,the advantages and disadvantages of the standard filter retrieval technique,the"rotation-correction loop technique"and the other loop-assisted techniques were compared.Results Both the intraoperative radiation dose and the time spent on the retrieval of IVCF using"rotation-correction loop technique"were remarkably lower than those of other loop-assisted techniques(P＜0.000 1).Conclusion For the retrieval of complex IVCF,especially for the IVCF which is heavily tilted and/or its recovered hook is attached to the vascular wall,the use of"rotation-correction loop technique"can shorten the time spent on the the retrieval of IVCF and reduce the intraoperative radiation dose.This technique carries high safety and practicability,the device is simple and it can be manipulated by single physician,which is conducive to clinical application and promotion.(J Intervent Radiol,2024,33:289-294)

Objective To explore the curative effect of indobufen combined with clopidogrel and its influences on platelet activity and coagulation function in patients with acute myocardial infarction(AMI)after percutaneous coronary intervention(PCI).Methods According to different treatment methods,patients with AMI were divided into treatment group and control group.The control group was given clopidogrel(75 mg,qd)and aspirin(0.1 g,qd),while treatment group was given clopidogrel(75 mg,qd)and indobufen tablets(0.1 g,bid).All were treated for 1 month.The curative effect,platelet count(PLT),mean platelet volume(MPV),prothrombin time(PT),fibrinogen(FIB)and D-dimer(D-D)before and after treatment,and adverse events within 1 month after medication were compared between the two groups.Results There were 38 cases in treatment group and 43 cases in control group.After treatment,curative effect in treatment group and control group were 97.37％and 86.05％,PLT were(167.89±43.62)× 109·L-1 and(183.73±49.81)× 109·L-1,MPV were(11.86±2.31)and(10.97±2.16)fl,FIB levels were(2.53±0.61)and(2.78±0.72)g·L-1,D-D levels were(0.20±0.06)and(0.22±0.07)mg·L-1,PT were(12.82±2.35)and(12.26±2.28)s,the difference was not statistically significant(all P＞0.05).The incidence of adverse drug reactions in treatment group and control group were 2.63％and 11.63％,and the difference was statistically significant(P＜0.001).Conclusion Indobufen combined with clopidogrel has the comparable curative effect and good anti-platelet aggregation effect as aspirin,and indobufen has higher safety.So it is recommended as the medication regimen for AMI patients after PCI.

Objective The leptin receptor,encoded by the LEPR gene,is involved in tumorigenesis.A potential functional variant of LEPR,rs1137101(Gln223Arg),has been extensively investigated for its contribution to the risk of digestive system(DS)cancers,but results remain conflicting rather than conclusive.Here,we performed a case-control study and subsequent meta-analysis to examine the association between rs1137101 and DS cancer risk. Methods A total of 1,727 patients with cancer(gastric/liver/colorectal:460/480/787)and 800 healthy controls were recruited.Genotyping of rs1137101 was conducted using a polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP)assay and confirmed using Sanger sequencing.Twenty-four eligible studies were included in the meta-analysis. Results After Bonferroni correction,the case-control study revealed that rs1137101 was significantly associated with the risk of liver cancer in the Hubei Chinese population.The meta-analysis suggested that rs1137101 is significantly associated with the risk of overall DS,gastric,and liver cancer in the Chinese population. Conclusion The LEPR rs1137101 variant may be a genetic biomarker for susceptibility to DS cancers(especially liver and gastric cancer)in the Chinese population.

The anti-inflammatory efficacy of Callicarpa nudiflora extract were evaluated upon lipopolysaccharide (LPS)-induced infective inflammation in rats. Pathological changes of lung and colon tissues observed with hematoxylin-eosin (H&E) staining, together with inflammatory factors in serum, including nitric oxide (NO), interleukin-6 (IL-6) and tumor necrosis factor-α (TNF-α), were applied to assess the mitigating effects of C. nudiflora water extract on model rats. The experimental protocol strictly adhered to the guidelines of the Ethics Committee of Animal Research of Guangdong Pharmaceutical University (Approval: gdpulac2022132). Quality markers with anti-inflammatory activities were recognized by network pharmacology analysis. Subsequently, a reliable method for simultaneously quantifying six components was established. As a result, the pathological injury on lung and colon tissues of model rats induced by LPS were improved by C. nudiflora water extract. Compared with model group, C. nudiflora extract had decreased the release of proinflammatory factors in serum, including TNF-α and IL-6, and reduced the NO (P < 0.01). Network pharmacological analysis obtained 83 chemical components, 466 component targets, 584 disease targets and 129 action targets, which were mainly concentrated in 624 biological processes such as inflammatory response and positive regulation of nitric oxide biosynthesis, as well as 162 pathways such as phosphatidylinositol-3-hydroxykinase-protein kinase (PI3K-Akt) signal pathway and Janus kinase-signal transducer and activator of transcription 3 (JAK-STAT3) signal pathway. Upon analyzing their specificity, effectiveness, detectability, and quantity transfer rule from herb to extract, 6-hydroxyluteolin 7-glucoside, cynaroside, caffeic acid, acteoside, isoacteoside, and forsythoaside B were identified as the quality markers. Their anti-inflammatory activities were verified with LPS-induced inflammation model of RAW264.7 cells. Then contents of these 6 quality markers in 16 batches of C. nudiflora were determined. Thereby, the anti-inflammatory efficacy of C. nudiflora extract were confirmed in vivo, 6-hydroxyluteolin 7-glucoside, cynaroside, caffeic acid, acteoside, isoacteoside, and forsythoaside B were identified as anti-inflammatory ingredients, which can be used as quality control indicators for the herb and related formulation.

Objective:To explore the incidence and risk factors of parastomal hernia after colostomy.Methods:The retrospective cohort study was conducted. The clinicopathological data of 145 patients undergoing colostomy in Xinxiang Central Hospital from January 2015 to January 2019 were collected. There were 86 males and 59 females, aged(59±11) years. Patients received pelvic and abdominal computed tomography once every 6 months after colostomy to detect the occurrence of parastomal hernia. Measurement data with normal distribution were represented as Mean± SD, and the independent sample t test was used for comparison between groups. Measurement data with skewed distribution were represented as M(range). Count data were represented as absolute numbers, and chi-square test or Fisher exact probability was used for comparison between groups. Kaplan-Meier method was used to analyze the cumulative annual incidence of parastomal hernia. Logarithmic rank test was used to analyze the cumulative incidence based on clinical variables. COX proportional hazard regression model was used for univariate and multivariate analyses. Results:(1) Incidence of parastomal hernia after colostomy. All the 145 patients were followed up for 86(range, 60?108)months after colostomy, of which 46 cases had parastomal hernia and 99 cases had no parastomal hernia. There were significant differences in gender, age, body mass index (BMI) and chronic liver disease between patients with and without parastomal hernia after colostomy ( χ2=23.28, t=13.27, χ2=6.17, 5.82, P<0.05). (2) Annual cumulative incidence of parastomal hernia after colostomy. The 1-, 3-, and 5-year cumulative incidence of parastromal hernia after colostomy was 8.5%, 26.4% and 42.7%, respectively. When the follow-up time is more than 5 years, the incidence of parastromal hernia tended to be stable. The 5-year incidence of parastomal hernia after colostomy in female patients was higher than that in male patients (70.7% vs 20.3%, χ2=12.37, P<0.05). The 5-year incidence of parastomal hernia after colostomy in patients≥60 years old was higher than that in patients under 60 years old (49.8% vs 20.0%, χ2=10.52, P<0.05). The 5-year incidence of parastomal hernia after colostomy in patients with BMI >28 kg/m 2 was higher than that in patients with BMI ≤28 kg/m 2 (55.3% vs 33.2%, χ2=11.76, P<0.05). The 5-year incidence of parastomal hernia after colostomy in patients with chronic liver disease was higher than that in patients with non-chronic liver disease (45.2% vs 32.4%, χ2=15.32, P<0.05). (3) Analysis of risk factors for parastomal hernia after colostomy. Results of multivariate analysis showed that female, age >60 years old, BMI ≥28 kg/m 2 and chronic liver disease were independent risk factors for parastomal hernia after colostomy ( hazard ratio=2.70, 2.51, 1.85, 5.88, 95% confidence intervals as 1.39?6.74, 1.01?4.59, 1.02?4.87, 1.05?8.24, P<0.05). Conclusions:The incidence of parastomal hernia after colostomy is increasing year by year, and tends to be stable after 5 years. Female, age >60 years old, BMI≥28 kg/m 2, and chronic liver disease are independent risk factors for parastomal hernia after colostomy.

This paper aims to discuss the ideas and experience about the radiology residency training system of Canada with a presentation of its base accreditation standards for five aspects, competency goals for seven roles, four stages of training arrangement, and two types of final assessment questions. Although the Canada's radiology residency program differs from China's standardized resident and specialist training programs for radiology, there are still several points that are worth referencing, including emphasizing the training priority of competency goals, providing a specific basis for the stratification of training, offering clear guidance for the implementation of training content, and improving assessment methods to focus on competency goals. These points are of great value for improving the standardized radiology resident and specialist training programs in China, so as to provide a reference for the training of excellent radiologists in China.

Objective To analyze the incidence and mortality of malignant tumors among the middle-aged and elderly population in Chengguan district of Lanzhou from 2011 to 2021,and to discuss the related risk factors.Methods Using the research data of REACTION in Lanzhou,an epidemiological survey was conducted through cluster sampling in three communities in Chengguan district of Lanzhou since April 2011.The target population was middle-aged and elderly residents over 40 years old.Two follow-up surveys were carried out in 2014-2016 and 2021 successively,and 6543 people with complete follow-up data were finally included.The incidence and mortality rates of malignant tumors were calculated,as well as their age standardized rates with reference to the age composition of Segi's world standard population.Multivariate Cox regression analysis was used to screen the risk factors affecting the incidence and mortality of malignant tumors.Results After an average follow-up of 10.6 years,314 new cases of malignant tumors were found in middle-aged and elderly residents in Chengguan district of Lanzhou,with an incidence rate and age standardized incidence rate of 454.30/100 000 and 128.93/100 000,respectively.A total of 158 deaths were attributed to malignant tumors,with a mortality rate and age standardized rate of 228.41/100 000 and 607.9/100 000,respectively;The age standardized incidence rate and mortality rate of malignant tumors males were both higher than those females(P＜0.05).During the follow-up period,the age standardized incidence rate of malignant tumors in the general population showed an significant upward trend(P＜0.05),whereas the age standardized mortality rate gradually decreased after a brief increase(P＜0.05).Lung cancer,colorectal cancer,gastric cancer,and liver cancer were the main types of malignant tumors ranking in the top five in terms of incidence and mortality by gender.Multivariate Cox regression results indicate that male,age≥60 years old,college education level or above,smoking history,drinking history,having been hit by major stressful events,central obesity,hypertension,and coronary heart disease are risk factors for the onset or death of malignant tumors(HR＞1).Married,with family size≥4,frequent consumption of fresh fruit,frequent consumption of fresh vegetables,frequent consumption of grains and tubers are protective factors for the onset or death of malignant tumors(HR＜1).Conclusion The incidence of malignant tumors among middle-aged and elderly people in Chengguan district of Lanzhou from 2011 to 2021 showed an increasing trend,while the overall mortality was decreasing.Our study indicates early cancer screening in elderly populations,maintaining a healthy lifestyle and strengthening the management of chronic diseases are crucial for the prevention and treatment of malignant tumors.

OBJECTIVE: To evaluate the report quality of Chinese and English randomized controlled trials (RCTs) of acupuncture based on the CONSORT statement and STRICTA checklist. METHODS: The Chinese and English RCTs of acupuncture published from January 1, 2015 to December 31, 2019 were searched in 7 databases including PubMed. The report quality of the included RCTs was evaluated with the CONSORT 2010 statement and STRICTA checklist. RESULTS: A total of 506 Chinese RCTs and 76 English RCTs were included. According to the CONSORT statement, in Chinese RCTs, the items with report rate less than 50% accounted for 78.38% of all items, and the report rate of 25 items, such as background and reason, study design, outcome index, and sample size, was less than 10%. In English RCTs, the items with report rate less than 50% accounted for 35.14% of all items, and 5 items had a report rate of less than 10%. The difference of the report rate of 15 items, such as background, reason and study design, was more than 50% between Chinese and English RCTs. The report rate of all items of STRICTA checklist was relatively high in both Chinese and English RCTs. In Chinese RCTs, the items with report rate less than 50% accounted for 29.41% of all items, which included acupuncture rationale and depth of insertion. In English RCTs, only two items had a report rate less than 50%, which were acupuncture rationale, setting and context of treatment. The report rate of five items, including needle retention time, frequency and duration of treatment sessions, details of other interventions administered to the acupuncture group, setting and context of treatment, and precise description of the control or comparator in Chinese RCTs, were higher than in English RCTs. CONCLUSION The report quality of Chinese acupuncture RCT needs to be improved urgently, and corresponding measures should be taken to further standardize the writing and reporting of acupuncture clinical research.
Humans ; Acupuncture Therapy ; Checklist ; Randomized Controlled Trials as Topic/standards*

Humans ; Joint Dislocations/surgery* ; Spinal Fractures/surgery* ; Anesthesia, General ; Cervical Vertebrae/injuries* ; Spinal Fusion