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

Objective To evaluate the diagnostic efficacy of different pathogen detection methods in active tuberculosis (ATB) of kidney transplant recipients (KTRs) and analyze their diagnostic value in different types of clinical specimens. Methods A retrospective observational study was conducted, including adult KTRs with suspected ATB from the Eighth Medical Center of Chinese People's Liberation Army General Hospital from January 2020 to January 2025. Baseline data of the recipients were collected and analyzed, and the diagnostic criteria were based on a composite reference standard (including clinical diagnosis and bacteriological confirmation). The single-detection efficacy of acid-fast staining smear, mycobacterium tuberculosis culture, Xpert test for the detection of mycobacterium tuberculosis nucleic acid and resistance to rifampicin (Xpert MTB/RIF), as well as tuberculosis or non-tuberculosis mycobacterial DNA detection was compared. The differences in sensitivity among different methods were analyzed. Results A total of 95 KTRs with suspected ATB and 136 specimens were included. And 52 cases were diagnosed as ATB, among which 48 cases were confirmed by bacteriological means (92%). The sensitivity of Xpert MTB/RIF and DNA detection (0.55 and 0.52, respectively) was significantly higher than that of acid-fast staining smear (0.30) and mycobacterium tuberculosis culture (0.35) (P < 0.01). There was a statistically significant difference in the bacteriological diagnosis rate among different specimen types (P = 0.035). The detection sensitivity of each method was the highest in pus, puncture tissue and bronchoalveolar lavage fluid, followed by sputum and pleural and abdominal effusions, and the lowest in cerebrospinal fluid. Conclusions The sensitivity of nucleic acid amplification technology for immunosuppressed KTRs is slightly reduced, but it should still be recommended as the preferred initial screening tool. The comprehensive strategy of "multi-site sampling (prior to obtaining high bacterial load specimens) combined with multiple method detection" may improve the diagnostic efficacy.

Ferroptosis of chondrocytes is a significant contributor to osteoarthritis (OA), for which there is still a lack of safe and effective therapeutic drugs targeting ferroptosis. Here, we screen for anti-ferroptotic drugs in Food and Drug Administration (FDA)-approved drug library via a high-throughput manner in chondrocytes. We identified a group of FDA-approved anti-ferroptotic drugs, among which vitamin K showed the most powerful protective effect. Further study demonstrated that vitamin K effectively inhibited ferroptosis and alleviated the extracellular matrix (ECM) degradation in chondrocytes. Intra-articular injection of vitamin K inhibited ferroptosis and alleviated OA phenotype in destabilization of the medial meniscus (DMM) mouse model. Mechanistically, transcriptome sequencing and knockdown experiments revealed that the anti-ferroptotic effects of vitamin K depended on growth arrest-specific 6 (Gas6). Furthermore, exogenous expression of Gas6 was found to inhibit ferroptosis through the AXL receptor tyrosine kinase (AXL)/phosphatidylinositol 3-kinase (PI3K)/AKT serine/threonine kinase (AKT) axis. Together, we demonstrate that vitamin K inhibits ferroptosis and alleviates OA progression via enhancing Gas6 expression and its downstream pathway of AXL/PI3K/AKT axis, indicating vitamin K as well as Gas6 to serve as a potential therapeutic target for OA and other ferroptosis-related diseases.

Objective:To evaluate the potential value of gut microbiota metabolites in predicting the efficacy of neoadjuvant chemoradiotherapy combined with immunotherapy in patients with locally advanced rectal cancer.Methods:Prospectively collected case data from 32 patients with locally advanced rectal patients, who underwent total mesorectal excision at Beijing Friendship Hospital, Capital Medical University, between October 2021 and August 2022. Among these patients, 18 (56.25%) were male and 14 (43.75%) were female, with ages ranging from 37 to 79 years and a mean age of (61.69±8.73) years. Postoperative pathological response was evaluated using the Tumor Regression Grade (TRG), dividing the patients into two groups: an efficacious group (ypT 0N 0, n=14) and a non-efficacious group (non-ypT 0N 0, n=18). Stools from 14 patients in the efficacious group and 18 patients in the non-efficacious group, who had experienced neoadjuvant chemoradiotherapy combined with immunotherapy, were collected before treatment. Metabolites were analyzed using high-performance liquid chromatography-tandem mass spectrometry, and pathway enrichment analysis was performed. A random forest model was constructed based on the differential metabolites. The data were analyzed by using R4.1.1 and 26.0 software. Results:Through untargeted metabolomics analysis, 2′-Deoxyinosine and albiflorin were enriched in the responders, while Sorbitan monooleate, 2-(Formylamino) Benzoic Acid, and 12-Hydroxydodecanoic acid were enriched in the non-responders ( P<0.05); Arachidonic acid metabolism and tryptophan metabolism were enriched, and the AUC for the model was 0.976. Conclusions:Rectal cancer patients with or without complete postoperative pathological remission exhibit differences in the metabolites of their intestinal microbiome prior to undergoing neoadjuvant chemoradiotherapy combined with immunotherapy. The identified differential metabolites have the potential to serve as predictive biomarkers for treatment efficacy.

Objective:To investigate the prevalence and risk factors of overweight and obesity among Chinese children aged 3-18 years from 11 provinces, antonomous regions, or municipalities.Methods:This national cross-sectional community health survey utilized a multistage stratified cluster-random sampling method to recruit 193 997 nationally representative participants from 11 provinces, autonomous regions, or municipalities between January 2017 and December 2019. All participants underwent physical examinations, and their caregivers completed questionnaires assessing participants′ dietary, lifestyle, familial, and perinatal information. Multilevel multinomial logistic regression models were employed to identify the potential risk factors.Results:The cohort comprised 193 997 children (102 178 boys, 91 819 girls),aged (10±4) years. Overall prevalence rates were 30 574(15.8%)overweight children and 17 217(8.9%) obesity children. Boys exhibited higher overweight and obesity rates than girls (17.0% (17 368/102 178) vs. 14.4% (13 206/102 178), 11.3% (11 553/91 819) vs. 6.2% (5 664/91 819), χ2=249.12,1 578.69,both P<0.001). The detection rates of obesity in Tanner stage 2 and 3 were the highest in boys and girls, with 13.4%(2 231/16 665) and 8.6%(880/10 221) respectively. Risk factors for obesity included parental overweight (paternal OR=2.34 and maternal OR=2.29), annual household income of 100 000-200 000 yuan (compared with<100 000 yuan, OR=1.04), higher paternal education (compared with below high school,high school and a college education OR=1.09,1.14), birth weight >4.0 kg (≤5 and>5 years old OR=1.74, 1.44,respectively), and western food consumption≥1 time/month (compared with<1, 1-2, 3-4,>4 times/month OR=1.36, 1.30, 1.67(≤5 years), 1.19, 1.16, 1.15 (>5 years), respectively) (all P<0.05). Conversely, coarse grain intake≥1 times/week (compared with<1 times/week, every day, 3-4, 1-2 times/week OR=0.74, 0.80, 0.71 (≤5 years), 0.75, 0.87, 0.90(>5 years), respectively, all P<0.05) was associated with reduced obesity risk. Conclusions:Obesity epidemiology in children demonstrates significant heterogeneity across age, gender, geographic regions, and pubertal stages. It is necessary to establish a personalized prevention and control strategy.

Objective:To investigate the therapeutic value of visual endoscopic retrograde appendicitis therapy (vERAT) in pediatric patients with acute suppurative appendicitis (ASA).Methods:This was a retrospective cohort study. A total of 55 ASA patients who underwent vERAT at the Pediatric Department of the Tangdu Hospital of Air Force Medical University between November 2023 and January 2025 were selected and divided into groups based on the presence or absence of fecaliths: fecalith group and non-fecalith group. The baseline characteristics, initial treatment success rates, treatment costs, hospital stay duration, procedure time, and recurrence rates between two groups were compared. Mann-Whitney U test and χ2 test were used to evaluate group differences. Results:A total of 55 ASA patients were enrolled, including 38 males and 17 females, with the age of 11.2 (9.2, 13.1) years. Based on the presence of fecaliths, patients were divided into two groups: fecalith group (32 cases) and non-fecalith group (23 cases). No statistically significant differences were observed between the two groups in terms of age, gender, duration of abdominal pain, white blood cell count, neutrophil percentage, diameter of appendix, thickness of appendix clinical symptoms or signs (all P>0.05). The initial treatment success rates were 91% (29/32) in fecalith group and 96% (22/23) in non-fecalith group, with no statistically significant difference ( P=0.632). However, significant differences were noted in stent placement ( χ2=5.85, P=0.026) and procedure time ( Z=4.75, P<0.001). The follow-up duration time was 6.0 (2.0, 12.0) and 7.0 (2.0, 8.5) months for the fecalith and non-fecalith groups, respectively, with no significant difference ( Z=0.05, P=0.962). The recurrence rates were 14% (4/29) in fecalith group and 5% (1/22) in non-fecalith group, with no statistically significant difference ( P=0.375). Conclusions:vERAT can safely and effectively treat pediatric ASA, regardless of the presence or absence of fecaliths. It can provide a new treatment option for ASA.

A 34-year-old male patient was admitted to the hospital on October 6, 2023 due to fall from a high place. Physical examination showed blood pressure 96/53 mmHg (1 mmHg=0.133 kPa), heart rate of 105 beats/min, slight bulge in the right kidney area, and positive percussion pain in the right kidney area. CT examination showed complete rupture of the lower pole of the right kidney, thrombosis of the right renal vein, and contusion and laceration of the right posterior lobe of the liver. According to the American Association for the Surgery of Trauma renal injury classification, he was diagnosed as grade Ⅳ renal rupture. After blood transfusion and fluid infusion, vital signs were stable. Laparoscopic nephrectomy plus renal vein thrombectomy plus liver rupture repair were performed. The operation took 90 minutes, and about 300 ml of blood clots and fresh blood were aspirated during the operation. The patient's vital signs were stable after the operation, and he could get out of bed 3 days after the operation. CT reexamination 1 month after the operation showed right kidney resected and the liver healed well. This operation is feasible if the patient's vital signs are stable, with the advantages of small surgical incision, short operation time, less bleeding, fast postoperative recovery and good surgical effect.

Objective:To analyze the awareness of and factors influencing the adjusted national immunization schedule for the diphtheria-tetanus-acellular pertussis (DTaP) vaccine among grassroots immunization service personnel in China.Methods:Based on the snowball sampling method from January to February 2025, immunization service personnel from all provinces of China were selected from the "Tingting Experts Talk" WeChat platform, with concurrent dissemination through the "National Vaccine-Preventable Diseases Communication Group" WeChat group. The questionnaire included basic demographic characteristics and knowledge of the DTaP vaccine immunization policy (13 questions in total). Respondents who answered ≥10 questions correctly were defined as being aware of the policy adjustment. The multivariable logistic regression analysis was performed to identify factors influencing awareness.Results:A total of 8 030 valid questionnaires were collected from 29 provinces, with a valid response rate of 92.91%. The overall awareness accuracy rates among the Centers for Disease Control and Prevention (CDC) personnel and the point of vaccination (POV) staff were 74.1% and 62.5%, respectively. The awareness rate of the core points of policy adjustment among the research subjects exceeded 90%. Among the questions regarding the operational details of policy implementation, the correct rate of answering questions related to the catch-up vaccination principles was relatively low (37.1%-74.0%). The multivariate logistic regression analysis showed that, compared with those with primary titles, CDC personnel with senior titles had higher mastery of the policy adjustment, with an OR (95% CI) value of 2.238 (1.343-3.730). Compared with those engaged in disease surveillance and immunization strategy research, CDC personnel with other work types had lower awareness of the policy adjustment, with an OR (95% CI) value of 0.404 (0.195-0.833). Compared with those in western regions, with primary titles, and without relevant training, POV staff in central regions, eastern regions, with intermediate titles, with senior titles, with one relevant training session, and with ≥2 relevant training sessions had better awareness of the program adjustment, with OR (95% CI) values of 1.214 (1.085-1.358), 1.412 (1.246-1.600), 1.606 (1.446-1.784), 1.737 (1.443-2.091), 2.254 (1.509-3.366), and 2.674 (1.769-3.981), respectively. Compared with those engaged in information registration/recipient notification, POV staff with vaccination services and other work types had lower awareness of the program adjustment, with OR (95% CI) values of 0.713 (0.633-0.803) and 0.508 (0.427-0.604), respectively. Conclusion:Although grassroots immunization service personnel show an insufficient mastery of certain catch-up vaccination knowledge, they demonstrate a good understanding of overall principles and routine immunization schedules shortly after the policy adjustment, which can effectively ensure an orderly transition between old and new immunization strategies.

Ferroptosis of chondrocytes is a significant contributor to osteoarthritis(OA),for which there is still a lack of safe and effective therapeutic drugs targeting ferroptosis.Here,we screen for anti-ferroptotic drugs in Food and Drug Administration(FDA)-approved drug library via a high-throughput manner in chondrocytes.We identified a group of FDA-approved anti-ferroptotic drugs,among which vitamin K showed the most powerful protective effect.Further study demonstrated that vitamin K effectively inhibited ferroptosis and alleviated the extracellular matrix(ECM)degradation in chondrocytes.Intra-articular injection of vitamin K inhibited ferroptosis and alleviated OA phenotype in destabilization of the medial meniscus(DMM)mouse model.Mechanistically,transcriptome sequencing and knockdown experiments revealed that the anti-ferroptotic effects of vitamin K depended on growth arrest-specific 6(Gas6).Furthermore,exogenous expression of Gas6 was found to inhibit ferroptosis through the AXL receptor tyrosine kinase(AXL)/phosphatidylinositol 3-kinase(PI3K)/AKT serine/threonine kinase(AKT)axis.Together,we demonstrate that vitamin K inhibits ferroptosis and alleviates OA progression via enhancing Gas6 expression and its downstream pathway of AXL/PI3K/AKT axis,indicating vitamin K as well as Gas6 to serve as a potential therapeutic target for OA and other ferroptosis-related diseases.