Objective:To analyze the characteristics of transabdominal bowel ultrasound (TBUS) in immune checkpoint inhibitor-related colitis (IRC) and their correlation with endoscopic manifestations.Methods:A cross-sectional study was conducted. Clinical data from 10 patients with IRC treated at Peking Union Medical College Hospital from January 2022 to January 2024 were collected. The ulcerative colitis endoscopic index of severity (UCEIS) and Limberg classification were used to assess the severity of colonoscopy and TBUS examinations, respectively. Kendall's tau-b method was applied for correlation analysis between UCEIS scores and Limberg classification.Results:All the 10 patients were male with a median age of 65 years (59-74 years). The majority had lung cancer (8 patients) and all were in advanced stages, with 6 patients in stage Ⅲ and 4 in stage Ⅳ. They all received anti-programmed death 1 (PD-1) /anti-programmed death ligand 1 (PD-L1) combined with chemotherapy, among whom 2 patients were combined with anti-angiogenic drug treatment. The median time from the first immunotherapy to the onset of IRC was 1.50 (0.25-12.00) months; the median time from IRC treatment to clinical symptom relief to G1 was 2.45 (0.50-8.00) weeks. Nine patients were in the active phase, mainly G3 (8 patients) ; 1 was in the remission phase after treatment. TBUS showed that among the 9 active IRC patients, the entire colon was mainly involved (7 patients), with combined small intestine involvement (3 patients) ; the main manifestations were thickening of the bowel wall, with the thickest bowel wall being 7.0 (5.0-8.0) mm, mainly located in the sigmoid colon (3 patients) and descending colon (3 patients) ; increased bowel wall blood flow signals (Limberg classification 2-4) occurred in 7 patients; 3 active patients had perienteric fat wrapping, and 2 had blurred bowel wall stratification. The Kendall's tau-b correlation coefficient r between the entire colon UCEIS scores and Limberg classification was 0.891 ( P = 0.003), and the Kendall's tau-b correlation coefficient r between the colon segment UCEIS scores and Limberg classification was 0.690 ( P < 0.001) . Conclusion:During the active phase, the left colon of IRC is more severe in TBUS, which mainly manifests as the thickening bowel wall and increased blood flow signals, and the TBUS has good correlation with colonoscopy evaluation.

Antley-Bixler syndrome (ABS) is a rare developmental malformation, usually caused by mutations in the fibroblast growth factor 2 (FGFR2) or cytochrome P450 oxidoreductase (POR) genes. This article reports an 18-year-old male patient with both ulcerative colitis and ABS to explore the possible association between the two diseases, to raise clinicians' awareness, and to provide reference value for early diagnosis and treatment in the future.

Objective:To analyze the characteristics of transabdominal bowel ultrasound (TBUS) in immune checkpoint inhibitor-related colitis (IRC) and their correlation with endoscopic manifestations.Methods:A cross-sectional study was conducted. Clinical data from 10 patients with IRC treated at Peking Union Medical College Hospital from January 2022 to January 2024 were collected. The ulcerative colitis endoscopic index of severity (UCEIS) and Limberg classification were used to assess the severity of colonoscopy and TBUS examinations, respectively. Kendall's tau-b method was applied for correlation analysis between UCEIS scores and Limberg classification.Results:All the 10 patients were male with a median age of 65 years (59-74 years). The majority had lung cancer (8 patients) and all were in advanced stages, with 6 patients in stage Ⅲ and 4 in stage Ⅳ. They all received anti-programmed death 1 (PD-1) /anti-programmed death ligand 1 (PD-L1) combined with chemotherapy, among whom 2 patients were combined with anti-angiogenic drug treatment. The median time from the first immunotherapy to the onset of IRC was 1.50 (0.25-12.00) months; the median time from IRC treatment to clinical symptom relief to G1 was 2.45 (0.50-8.00) weeks. Nine patients were in the active phase, mainly G3 (8 patients) ; 1 was in the remission phase after treatment. TBUS showed that among the 9 active IRC patients, the entire colon was mainly involved (7 patients), with combined small intestine involvement (3 patients) ; the main manifestations were thickening of the bowel wall, with the thickest bowel wall being 7.0 (5.0-8.0) mm, mainly located in the sigmoid colon (3 patients) and descending colon (3 patients) ; increased bowel wall blood flow signals (Limberg classification 2-4) occurred in 7 patients; 3 active patients had perienteric fat wrapping, and 2 had blurred bowel wall stratification. The Kendall's tau-b correlation coefficient r between the entire colon UCEIS scores and Limberg classification was 0.891 ( P = 0.003), and the Kendall's tau-b correlation coefficient r between the colon segment UCEIS scores and Limberg classification was 0.690 ( P < 0.001) . Conclusion:During the active phase, the left colon of IRC is more severe in TBUS, which mainly manifests as the thickening bowel wall and increased blood flow signals, and the TBUS has good correlation with colonoscopy evaluation.

Antley-Bixler syndrome (ABS) is a rare developmental malformation, usually caused by mutations in the fibroblast growth factor 2 (FGFR2) or cytochrome P450 oxidoreductase (POR) genes. This article reports an 18-year-old male patient with both ulcerative colitis and ABS to explore the possible association between the two diseases, to raise clinicians' awareness, and to provide reference value for early diagnosis and treatment in the future.

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 assess the utility of whole-genome sequencing (WGS) in predicting Mycobacterium tuberculosis resistance to fluoroquinolones (FQs) and to establish a quantitative relationship between resistant gene mutations and resistance levels. Methods:A total of 296 drug-resistant tuberculosis surveillance strains with various resistance profiles, preserved by the National Tuberculosis Reference Laboratory of the Tuberculosis Prevention and Control Center at the Chinese Center for Disease Control and Prevention between 2013 and 2020, were included as study subjects. The Sensititre? MYCOTBI microplate method and WGS were used to assess the phenotypic and genotypic drug sensitivity of Mycobacterium tuberculosis to ofloxacin and moxifloxacin. Sensitivity, specificity, and concordance (Kappa value) of WGS in predicting fluoroquinolone sensitivity were calculated using phenotypic drug susceptibility testing (DST) results as the gold standard. A summary analysis was conducted on the distribution of drug resistance mutation sites and resistance levels. The paired χ 2 test was used to compare the detection rates between the two methods, with P<0.05 indicating statistical significance. Results:Among the 296 Mycobacterium tuberculosis strains with different resistance profiles, 196 were rifampicin-resistant, 50 were resistant to other drugs, and 50 were fully sensitive. WGS identified 81 strains carrying FQs resistance-related mutations, primarily at gyrA codons 94, 90, and 91. Sensitivity, specificity, and consistency (Kappa value) of WGS in predicting ofloxacin resistance were 86.5%, 98.1%, and 0.87, respectively. For moxifloxacin resistance prediction, these values were 80.0%, 99.5%, and 0.83, respectively. There was no statistically significant difference between the phenotypic DST and WGS detection rates for ofloxacin resistance (30.1% vs 27.4%, χ 2=3.06, P=0.08). However, the phenotypic DST detection rate for moxifloxacin resistance (33.8%, 100/296) was significantly higher than that of WGS (27.4%, 81/296) (χ 2=15.43, P<0.01). Analysis of the distribution of resistance mutation sites and resistance levels showed that different mutation sites corresponded to different minimum inhibitory concentrations (MICs). Multiple mutation combinations, including gyrA_D94G, gyrA_D94Y, and gyrA_D94N were mainly associated with high-level resistance, while gyrA_D94A, gyrA_A90V, and gyrA_S91P were primarily linked to low-level resistance. Conclusion:WGS demonstrates favorable sensitivity, specificity, and consistency in predicting FQs resistance and can partially predict resistance levels.

【Objective】 To further determine the relationship between blood donor role cognition and blood donation behavior, then prepare of blood donor role identity scale(BDRIS). 【Methods】 The preparation of the scale was divided into five stages. It includes literature retrieval, expert interview, construction of the basic framework of the scale, scale test and statistical index test. The study focused on items selection, dimensions identification, measurement reliability, content and structural validity. 【Results】 The blood donor role identity scale consisted of 35 items. Exploratory factor analysis divided the items into six common factors, including role identity, role expectation, current situation of blood collection and supply, role conflict, external reward and blood donation experience. The α of scale was 0.840. 【Conclusion】 The reliability and validity of the scale meet the basic measurement requirements, and the framework of the blood donor role scale is basically formed. It can be used as one of the means to explore the ways and mechanisms of the role identity of blood donors in blood donation behavior.

The development of bone tissue engineering puts forward higher requirements for scaffold materials. Based on the theory of complete regeneration in regenerative medicine, bone graft substitutes are required to be osteoinducible, and to be degraded by osteoclasts and replaced with new bone tissue. Absorbable scaffold materials can be degraded by osteoclasts, and their physical and chemical properties also affect the behavior of osteoclasts. The surface microstructure of the materials is the key to initiating osteoinduction, and it has an important influence on the behavior of osteoclasts. In addition, the surface roughness of the materials can enhance the functional activity of osteoclasts within a certain range. In this paper, the research progress in material surface microstructure regulating osteoclastic cells were reviewed, in order to further explore its mechanism of action, and provide a reference for the preparation of better performance tissue engineering scaffold materials.

Objective:To evaluate the relationship between the tea drinking habit and postoperative delirium (POD) in elderly patients.Methods:Two hundred and ninety-two patients, aged 65-85 yr, weighing 50-80 kg, of American Society of Anesthesiologists physical status Ⅰ-Ⅲ, undergoing elective knee/hip arthroplasty under spinal-epidural anesthesia in our hospital, were enrolled in this study.The patient′s cognitive function was assessed using Mini-Mental State Examination at 1 day before operation.Peripheral venous blood samples were collected before anesthesia, and the concentrations of caffeine and tea polyphenols in plasma were measured by enzyme-linked immunosorbent assay.In the anesthesia recovery room after operation and at 1, 3 and 7 days after operation (or before discharge), neuropsychological tests were performed, and the Delirium Rating Scale was used to recognize POD developed.The patients were divided into POD group (P group) and non-POD group (NP group) according to whether POD occurred after operation.Logistic regression analysis was used to analyze the variables of which P values were less than 0.05. Results:There was no significant difference in age, American Society of Anesthesiologists physical status, concentrations of caffeine and tea polyphenols in plasma between P group and NP group ( P<0.05). The results of logistic regression analysis showed that age was an independent risk factor for POD, and concentrations of caffeine and tea polyphenols in plasma and tea drinking habits were protective factors for reducing the occurrence of POD in elderly patients. Conclusion:Tea drinking habit is a protective factor for reducing the occurrence of POD in elderly patients.

Objective:To evaluate the relationship between cholinergic biomarkers and postoperative delirium (POD) in elderly patients.Methods:The patients, aged 65-85 yr, weighing 50-80 kg, of American Society of Anesthesiologists physical status Ⅰ-Ⅲ, underwent total knee/hip arthroplasty under combined spinal-epidural block in our hospital from July 2018 to September 2019, were collected.The baseline clinical data of patients were collected, and cubital venous blood samples 5 ml were collected before anesthesia to detect plasma concentrations of choline acetyltransferase (ChAT), acetylcholinesterase (AChE), butyrylcholinesterase (BuChE), tumor necrosis factor-α (TNF-α), and interleukin-6 (IL-6). The neuropsychological testing was performed on 1 day before operation, following admission to the recovery room after surgery, and on 1, 3 and 7 days (or before discharge) after surgery.The patient′s cognitive function was assessed using Mini-Mental State Examination (MMSE) before surgery.Confusion Assessment Method and Memorial Delirium Assessment Scale were used to evaluate the occurrence of postoperative delirium (POD) after surgery.The patients were divided into POD group (P group) and non-POD group (NP group) according to whether POD occurred.Logistic regression was used to analyze the related risk factors for POD.Results:There were 349 cases in NP group and 57 cases in P group, and the incidence of POD was 14.0%.Compared with NP group, the age of patients, preoperative coexisting underlying diseases (≥3 types), plasma ChAT, TNF-α and IL-6 concentrations were increased, and plasma AChE and BuChE concentrations were decreased in P group ( P<0.05). The results of multivariate logistic regression analysis showed that changes in plasma AChE, BuChE, and ChAT concentrations and older age were independent risk factors for POD ( P<0.05). Conclusion:The development of POD is related to the preoperative changes in plasma AChE, BuChE and ChAT concentrations in elderly patients.