OBJECTIVE: To explore the prenatal and postnatal phenotypes of 22q11.2 microdeletion syndrome (22q11.2DS) and enhance clinical understanding of this condition. METHODS: Data were collected from 86 fetuses diagnosed with 22q11.2DS at four prenatal diagnostic centers across China between January 2014 and August 2025. Prenatal imaging findings, pregnancy outcomes, and postnatal conditions were analyzed. RESULTS: Among the 86 fetuses, complete ultrasound data were available for 65 cases. Cardiovascular abnormalities were observed in 42 cases, thymic hypoplasia or aplasia in 7 cases, urinary system anomalies in 6 cases, nuchal translucency (NT) thickening in 7 cases, butterfly vertebrae, clubfoot, omphalocele and diaphragmatic hernia in 1 case each, cleft lip and palate in 2 cases, and ultrasound soft markers in 13 cases. The parents of 9 fetuses opted to continue with the pregnancy. Among these, 6 showed no significant ultrasound abnormalities and no related phenotypes postnatally, while the remaining 3 exhibited ultrasound anomalies with postnatal manifestations including developmental delay, immunodeficiency, and cardiac defects. CONCLUSION Fetuses with 22q11.2DS may exhibit various ultrasound abnormalities in multiple systems before and after birth. In addition to cardiovascular anomalies, they may also present with thymic hypoplasia or aplasia, thickened NT, and urinary abnormalities. Fetuses with thickened NT or thymic anomalies should be closely monitored, and thymic assessment should be included in routine prenatal imaging evaluations. For fetuses with 22q11.2DS who show no ultrasound abnormalities, the risk of developing severe phenotypes after birth is relatively low, but occult palate clefts and psychiatric disorders cannot be ruled out. Due to limitations in sample size and follow-up duration, above conclusions require further validation through large-scale prospective studies.
Humans ; Female ; Pregnancy ; Ultrasonography, Prenatal ; DiGeorge Syndrome/genetics* ; Adult ; Male ; Follow-Up Studies ; Fetus/diagnostic imaging* ; Phenotype ; Infant, Newborn

[摘 要] 目的：探讨复发/转移性鼻咽癌（NPC）接受含PD-1单抗免疫治疗的临床特征和预后影响因素。方法：回顾性分析2019年3月至2024年7月期间南部战区总医院确诊的95例NPC患者的临床资料和外周血生化及免疫学指标。预后分析采用Kaplan-Meier曲线，组间比较使用Log-rank检验，采用Cox比例风险模型进行单因素和多因素分析。结果：95例患者中男性81例，女性14例，中位年龄49.72岁（16~74岁），Ⅳ期91例（95.79%），所有患者均采用免疫治疗，联合或不联合化疗方案治疗，中位无进展生存期（mPFS）为10.5个月，客观缓解率（ORR）70.53%，疾病控制率（DCR）89.47%，接受含铂治疗方案患者PFS相对更长，且差异有统计学意义。紫杉醇 + 顺铂 + 氟尿嘧啶（TPF）对比吉西他滨 + 顺铂（GP）和紫杉醇 + 顺铂（TP）显示出更长的PFS，但差异无统计学意义。不同PD-1单抗治疗组间的PFS未显示出有统计学意义的差异。单因素及多因素Cox回归分析结果显示，肿瘤复发状态、初始血浆EBV感染状态、治疗周期数、基线外周血SII是复发/转移性NPC患者接受PD-1抑制剂治疗疗效预测的独立相关因素（均P < 0.05），并且非复发患者、初始血浆EBV DNA阳性、接受 ≥ 4治疗周期、基线外周血SII < 772.81的患者接受PD-1抑制剂治疗预后相对更好。结论：在接受PD-1抑制剂治疗的复发/转移性NPC患者中，非复发患者、初始血浆EBV DNA阳性、≥ 4治疗周期且外周血SII < 772.81者PFS相对更长，可早期识别免疫治疗效果不佳患者并精准干预。

Objective To longitudinally investigate the characteristics of postoperative weight changes in patients with esophageal cancer and analyze its influencing factors, which can provide certain guidance for nutritional intervention in patients with esophageal cancer. Methods Patients with esophageal cancer who underwent surgical treatment at the Sichuan Cancer Hospital from December 2020 to February 2022 were prospectively included. The general information questionnaire and body composition analyzer were used to longitudinally investigate the patients’ weight and body composition before surgery (T0), 1 month after surgery (T1), 3 months after surgery (T2) and 6 months after surgery (T3), and the change characteristics were analyzed. The generalized estimating equation was used to analyze the influencing factors for postoperative weight changes in patients with esophageal cancer. Results A total of 130 patients were enrolled, including 110 males and 20 females, aged 42-79 (63.33±8.16) years. The weight and body composition of patients with esophageal cancer showed a continuous slow downward trend within 6 months after surgery. The weight loss rate of patients at 1, 3, and 6 months after surgery was 5.10%, 7.76%, and 9.86%, respectively. The analysis results of the influencing factors for postoperative weight showed that patients with the following characteristics had more weight loss: female (β=−7.703, P=0.001), ≥60 years (β=−3.657, P=0.010), smoking (β=4.622, P=0.010), low tumor differentiation degree (β=4.314, P=0.039), and high frequency of eating (β=−3.400, P=0.008). Conclusion Weight loss is an important health problem for patients with esophageal cancer after surgery, and patients have a continuous downward trend in weight within 6 months after surgery. Medical staff should pay special attention to the patients who are female, ≥60 years, having smoking history and low tumor differentiation degree.

Chronic post-surgical pain (CPSP) is a common long-term complication following lung surgery. Its high incidence significantly impacts patients’ quality of life and functional recovery, and imposes a substantial socioeconomic burden. This consensus aims to systematically establish a standardized integrated Chinese and Western medicine diagnostic and treatment framework for chronic post-lung surgery pain (CPLSP). Based on the latest domestic and international evidence-based medical research and multidisciplinary clinical experience, the working group comprehensively elaborates on core issues regarding CPLSP, including its definition, epidemiology, pathogenesis, clinical assessment, Western medical treatment, traditional Chinese medicine (TCM) treatment, and integrated strategies. The consensus emphasizes a patient-centered approach, adhering to the principles of multimodality, individualization, and stepwise management, highlighting the synergistic advantages of integrating Chinese and Western medicine throughout the entire perioperative management cycle encompassing "perioperative anti-inflammation, acute analgesia, and chronic rehabilitation." Through systematic literature retrieval and evidence integration, a total of 9 core recommendations were established to provide scientifically sound and clinically practical guidance.

OBJECTIVE To establish a full-cycle management model for type 2 diabetes mellitus （T2DM） patients led by clinical pharmacists. METHODS Based on literature research， a basic framework and items of full-cycle management model led by clinical pharmacists were initially formulated. The Delphi method was adopted to conduct questionnaire inquiries among 26 experts to determine the specific implementation items of the model. The analytic hierarchy process （AHP） method was used to determine the weight values of items at all levels， and the reliability and validity of the model items were analyzed. RESULTS The recovery rates of the two rounds of expert consultation questionnaires were 86.67% and 100%， respectively， and the expert authority coefficient was 0.88. Kendall’s concordance coefficients of the tertiary-level items were 0.064 and 0.084， respectively， and the P values from the χ 2 tests were all less than 0.05； the consistent ratios of the judgment matrices for all levels of AHP model were all less than 0.1. The established full-cycle management led by clinical pharmacists comprised three primary-level items （pharmacy service pathway for T2DM patients during hospitalization， pharmacy management pathway for hypoglycemia in T2DM inpatients， and the pharmacy follow-up pathway for T2DM discharged patients， with weights of 0.098， 0.568 and 0.334， respectively）， twelve secondary-level items （e.g. pharmaceutical care during hospitalization for 1 to 2 days， admission assessment and education， with weights ranging from 0.143 to 0.333） and thirty-seven tertiary-level items （e.g. assessment of medication compliance， verification of the medication plan for discharge， with weights ranging from 0.068 to 0.750）. Cronbach’s α coefficients for primary-level items and the overall questionnaire were 0.762， 0.879， 0.928 and 0.951， respectively. The item-level and scale-level content validity indexes were 0.967 and 0.808， respectively. CONCLUSIONS A full-cycle management model for T2DM patients led by clinical pharmacists has been constructed successfully， demonstrating high scientificity and reliability.

Objective Through in vitro experiments,biomechanical data of the transtibial pullout suture(TPS),tendon reconstruction(TR),and tendon reconstruction with suture augmentation(TRS)were collected,so as to evaluate the biomechanical effectiveness of tendon reconstruction for repairing medial meniscus posterior root tear(MMPRT).Methods Eighteen porcine knee joint models were divided into TPS,TR,and TRS groups.Sutures were used to fix the meniscal root in TPS group.Tendons were passed through an incision at the meniscal root in TR group.Tendons were passed through an incision at the meniscal root and secured at tendon-meniscus contact area with additional sutures in TRS group.The sutures and tendons were pulled out through tibial tunnels and fixed at the anteromedial tibia.All groups underwent failure load tests,and ultimate failure load,displacement at failure load,load at clinical failure,stiffness,and failure modes of the samples were recorded.Results The maximum failure load in TPS group was significantly higher than that in TR group(P＜0.05),but there was no significant difference between TPS group and TRS group(P＞0.05).The maximum failure load in TRS group was significantly higher than that in TR group(P＜0.05).The displacement under failure load in TR group and TRS group was significantly lower than that in TPS group(P＜0.05),but there was no significant difference between TR group and TRS group(P＞0.05).There were no significant differences in the load under clinical failure among the 3 groups(P＞0.05).The stiffness of TRS group was significantly greater than that of TPS group(P＜0.05),but no significant difference was observed between TR group and TPS group,as well as between TR group and TRS group(P＞0.05).All failures were caused by suture or tendon cutting through the meniscus.Conclusions The tendon reconstruction techniques is superior to the TPS in terms of failure displacement and stiffness,while the TRS further enhances the stability of the repair.

Objective:To establish an arsenic free fully automatic online digestion iodine analyzer detection method for urinary iodine (hereinafter referred to as the method).Methods:Based on the principle of iodine catalyzed antimony cerium redox reaction, a fully automatic online digestion iodine analyzer was used to determine the iodine content in urine. The effectiveness of the method in terms of detection limit, precision, accuracy (determination of urinary iodine primary standard reference materials GBW09108z and GBW09110f and spiked recovery experiment), and interference experiments was validated. The method was compared with the arsenic cerium catalytic spectrophotometry method recommended by the National Reference Laboratory for Iodine Deficiency Disorders.Results:The linear range of the method was 0 - 300 μg/L, with a correlation coefficient │ r│> 0.999 5. The qualitative and quantitative detection limits were 7.41 and 18.01 μg/L, respectively. The relative standard deviation ( RSD) of urine samples with different iodine concentrations ranged from 1.0% to 1.7%. The results of the determination of iodine concentrations in urine using standard substances GBW09108z and GBW09110f were within the given standard range, with RSD < 2.5%. The range of spiked recovery rates for urine samples with different iodine concentrations was 101.3% to 104.8%, with an overall average spiked recovery rate of 103.0%. The average concentration of the baseline iodine standard solution was determined to be 116.21 μg/L, and the relative error of the concentration determination with the addition of interfering substances was less than 5.0%. The comparison results showed that there was no statistically significant difference in the measurement results between the two methods ( t = - 0.06, P = 0.952). Conclusions:The method adopts automated detection, which is simple to operate, labor-saving, and does not require the use of arsenic trioxide. It has high precision and accuracy, and is suitable for detection of large quantities of samples.

OBJECTIVE To explore the association of peripheral blood glucose 6 phosphate dehydrogenase(G6PD),progranulin(PGRN)and neutrophil CD64 index with the disease outcomes of the neonates with septicemia.METHODS A total of 147 neonates with septicemia who were treated in the Second Affiliated Hospital of Wenzhou Medical University from Jun.2021 to Nov.2023 were assigned as the septicemia group,meanwhile,140 healthy neonates were chosen as the healthy group.The neonates of the septicemia group were divided into the early-onset group and the late-onset group according to the type of disease,the non-critically severe group,the critically se-vere group and the extremely critically severe group according to the severity of diseases,the survival group and the death group according to 30-day prognosis.The levels of peripheral blood G6PD,PGRN and neutrophil CD64 indexes were observed and compared among the various types of groups,and the values of the peripheral blood in-dexes in prediction of the prognosis were analyzed.RESULTS The peripheral blood G6PD level of the septicemia group was significantly lower than that of the healthy group,the levels of PGRN and neutrophil CD64 index of the septicemia group were significantly higher than those of the healthy group(P＜0.05).As compared with the pe-ripheral blood G6PD level among the neonates with different illness condition,the result was as follows:the non-critically severe group＞the critically severe group＞the extremely critically severe group(P＜0.05);as com-pared with the levels of PGRN and neutrophil CD64 index,the result was as follows:the non-critically severe group＜the critically severe group＜the extremely critically severe group(P＜0.05).The peripheral blood G6PD level of the death group was significantly lower than that of the survival group(P＜0.05),and the levels of PGRN and neutrophil CD64 index of the death group were significantly higher than those of the survival group(P＜0.05).The area under the curve(AUC)of the joint detection of peripheral blood G6PD,PGRN and CD64 index was 0.831 in prediction of the prognosis of the neonates,significantly higher than that of the single detection of the three indexes(P＜0.05).CONCLUSIONS The neonates with septicemia show the decline of peripheral blood G6PD and the rise of levels of PGRN and CD64 index.The expression levels of the indexes are associated with the severi-ty of disease and,to some extent,can predict the prognosis.

Objective:To explore the potential categories and influencing factors of medication compliance in patients with cardiometabolic multimorbidity, and provide a reference for formulating targeted intervention measures.Methods:A cross-sectional study design was adopted. From March to October 2024, the patients with cardiometabolic multimorbidity in the First Hospital Affiliated with Hunan Normal University (Hunan Provincial People′s Hospital) were selected by convenience sampling method as research objects. Data were collected using a general information questionnaire, Medication Adherence Rating Scale (MARS), Perceived Social Support Scale (PSSS), and Medication Literacy Questionnaire. The latent class analysis was used to explore the characteristics and classifications of medication compliance in cardiometabolic multimorbidity, and unordered multivariate Logistic regression was used to analyze the influencing factors of different latent classes.Results:A total of 421 subjects were included, consisting of 291 males and 130 females, aged (64.28±9.74) years old. The overall medication adherence score was 6.00 (5.00, 8.00) points, which could be divided into four categories: overall good adherence group (24.47%, 103/421), subjective perception-poor adherence group (15.91%, 67/421), forgetfulness-poor adherence group (37.53%, 158/421), and overall poor adherence group (22.09%, 93/421). The results showed that when taking the overall good adherence group as a reference, the inability to obtain pharmaceutical information from social media, medication literacy scores, social support scores were the influencing factors for the subjective perception-poor adherence group ( OR=4.210, 0.516, 0.733, all P<0.05). Occupational characteristics (employees in public institutions or government-affiliated institutions), age, social support scores were the influencing factors for the forgetfulness-poor adherence group( OR=0.173, 1.155, 0.781, all P<0.05). Occupational characteristics (employees in public institutions or government-affiliated institutions), failure to receive medication guidance from medical staff, medication literacy scores and social support scores were the influencing factors for the overall poor adherence group( OR values were 0.136-5.275, all P<0.05). When taking the overall poor adherence group as a reference, failure to receive medication guidance from medical staff and medication literacy scores were the influencing factors for the subjective perception-poor adherence group ( OR=0.310, 1.752, both P<0.05). Failure to receive medication guidance from medical staff, age, medication literacy scores and social support scores were the influencing factors for the forgetfulness-poor adherence group ( OR values were 0.315-2.554, all P<0.05). Conclusions:There is significant heterogeneity in medication adherence among patients with cardiometabolic multimorbidity. Healthcare professionals should consider individual characteristics in clinical practice and provide targeted, precise interventions to improve adherence in different patient categories.

Objective:To investigate the current status and influencing factors of decision anxiety in guardians of children with acute appendicitis under Endoscopic retrograde appendicitis therapy (ERAT) background, and to provide reference for the development of targeted intervention programs for decision anxiety.Methods:Convenient sampling method was used to select 254 guardians of children with acute appendicitis treated in the Department of Pediatrics, Second Affiliated Hospital of PLA Air Force Medical University from February 2023 to April 2024. A cross-sectional survey was conducted using the General Data Questionnaire, the State-Trait Anxiety Inventory Form Y-State anxiety subscale and the Preparation for Decision Making Scale. Multiple linear regression was used to analyze the influencing factors in guardians of children with acute appendicitis.Results:Among the guardians of 254 children with acute appendicitis, 156 were males and 98 were females, aged (37.44 ± 3.63) years old. The decision anxiety score of guardians of children with acute appendicitis was (52.49 ± 6.54). The results of multiple linear regression showed that age of children, gender of guardian, education level of guardian, per capita monthly income of family, decision making tendency and decision preparation were the main influencing factors of decision anxiety in guardians of children with acute appendicitis ( t values were -7.07-3.58, all P<0.05), which could explain 64.4% of the total variation. Conclusions:The decision anxiety in guardians of children with acute appendicitis is at a high level. Medical staff should provide targeted decision guidance, improve decision assistance programs and provide more effective decision support for guardians of children with acute appendicitis.