OBJECTIVE: To investigate the genetic etiology of a fetus diagnosed with Mandibulofacial dysostosis with microcephaly (MFDM). METHODS: A fetus that underwent prenatal diagnosis at Beijing Obstetrics and Gynecology Hospital, Capital Medical University, on May 19, 2025 was selected for analysis. Results of fetal ultrasound findings, chromosomal karyotyping, copy number variation sequencing (CNV-seq), and whole-exome sequencing (WES) were collected. Sanger sequencing was performed for familial validation of the pathogenic variant. The Human Protein Atlas (HPA), STRING, and Simple ClinVar databases were queried to characterize the biological features of the candidate gene. Three-dimensional structures of the wild-type and variant proteins were modeled and analyzed, and the evolutionary conservation of the affected amino acid was assessed using UGENE. Prenatal phenotypes associated with EFTUD2 variants were summarized through a review of the literature. This study was approved by the Ethics Committee of Beijing Obstetrics and Gynecology Hospital, Capital Medical University (Ethics No.: 2025-KY-029-01). RESULTS: At 23⁺² weeks of gestation, ultrasound examination revealed bilateral microtia with low-set ears, mild micrognathia with a reduced mandibular-facial angle, a single umbilical artery, a slightly narrow aortic diameter, and trivial mitral regurgitation. Amniotic fluid karyotyping and CNV-seq showed no abnormalities. WES identified a de novo, previously unreported EFTUD2 variant, c.698dupA (p.V235Gfs*27), in the fetus. This frameshift variant is predicted to alter the structural integrity of the EFTUD2 protein. Literature review indicated that micrognathia and microtia or low-set ears are the most common sonographic features in fetuses with EFTUD2 variants, while secondary findings may include abnormal stomach bubble, cleft palate, single umbilical artery, gastrointestinal atresia, polyhydramnios, and reduced aortic diameter. CONCLUSION The EFTUD2: c.698dupA (p.V235Gfs*27) variant is likely the genetic cause underlying MFDM in this fetus.
Humans ; Mandibulofacial Dysostosis/diagnostic imaging* ; Microcephaly/diagnostic imaging* ; Female ; Pregnancy ; Ribonucleoprotein, U5 Small Nuclear/chemistry* ; Peptide Elongation Factors/chemistry* ; Fetus ; DNA Copy Number Variations/genetics* ; Adult ; Ultrasonography, Prenatal

OBJECTIVE To investigate the requirements for infusion sets specified in the package inserts of monoclonal antibody drugs commonly used for intravenous infusion in China， and to provide a reference for the rational selection of infusion sets for this class of drugs in clinical practice. METHODS The “Drug Query” section of the official website of the National Medical Products Administration， including the “Domestically Manufactured Drugs” and “Overseas Manufactured Drugs” databases， as well as the DXY “Yongyao Zhushou” database， were searched to collect the package inserts of monoclonal antibody drugs available on the domestic market as of November 2025 that had requirements for intravenous infusion sets. Relevant requirements for infusion set materials， filter pore size， and filter materials were extracted， classified， and analyzed. RESULTS A total of 55 monoclonal antibody drugs for intravenous infusion were included， comprising 45 anticancer drugs （81.82%）， 5 immunomodulatory drugs （9.09%）， and 5 drugs for other diseases （9.09%）. The package inserts of 44 drugs （80.00%） had clear requirements for the filter pore size of infusion sets， of which 36 drugs （65.45%） required a pore size of 0.2 μm or 0.22 μm. The package inserts of 16 drugs （29.09%） specified the filter material， all of which recommended polyethersulfone. The package inserts of 25 drugs （45.45%） specified the infusion set material， primarily polyvinyl chloride， polyethylene， or polypropylene. CONCLUSIONS The requirements for infusion sets vary among different monoclonal antibody drugs， with differences mainly concentrated in two aspects： material compatibility and filter pore size. In clinical practice， the selection should be based on the drug package inserts， following the principles of “compatibility first， appropriate filtration， and system integration”， and standardized management should be achieved through the development of quick-reference manuals specifically addressing the requirements for infusion sets and the integration of relevant requirements into the prescription review and dispensing systems.

As one of the common systemic vasculitides in children， IgA vasculitis is closely associated with the interaction of "Wind pathogen" and "turbid stasis" in its pathogenesis. Based on the blood turbidity theory， this paper proposes "wind agitating blood turbidity and collateral damage" as the core pathogenesis. Regarding treatment， the sequential therapeutic principle of "stanch bleeding， activating blood circulation， and nourishing blood" is adopted， and combined with the dynamic application of wind-dispelling medicinals to "expel， search， and guard against wind"， turbidity-removing method is applied throughout all stages. In the acute stage，it is recommended to clear heat and purify turbidity， stanch bleeding and secure the collaterals. In the prolonged stage， the method of dissipating stasis and clearing up turbidity should be used， as well as activating blood circulation and unblocking the collaterals. In the recovery stage， it is advised to nourish blood to flourish the collaterals， reinforce healthy qi and resolve turbidity. This therapeutic system integrates the elimination of pathogens and the reinforcement of healthy qi to clear and resolve blood turbidity， ultimately achieving holistic collateral repair through securing， unblocking， and nourishing the collaterals， which provides new insights into the treatment of this disease in traditional Chinese medicine.

Background Vascular endothelial damage associated with endothelial progenitor cell dysfunction is considered as an initiating step of hypertension and target organ damage, in which oxidative stress plays a key role. High-intensity intermittent exercise is an effective prevention and treatment method of various chronic diseases; however, little attention has been paid to its effects and mechanisms on endothelial progenitor cells. Objective To observe the effect of high-intensity intermittent exercise on the function of endothelial progenitor cells in patients with hypertension and explore the mechanism of oxidative stress. Methods A total of 60 patients with essential hypertension were randomly divided into a control group and an exercise group. The control group received conventional drug treatment (including diuretics, calcium blockers, and beta-blockers), and the exercise group performed high-intensity intermittent exercise for 8 weeks (3 times·week⁻¹) in addition to the treatment plan of the control group. Before and after intervention, brachial artery flow-mediated vasodilation (FMD) was used to evaluate vascular endothelial function; venous blood was sampled to perfrom circulating endothelial progenitor cell counts; endothelial progenitor cells were cultured in vitro, and the modified Boyden chamber assay and Matrigel lumen formation assay were used to detect their migration and tube formation ability, superoxide fluorescent anion probe method to detect reactive oxygen species levels, terminal deoxynucleotidyl transferase-mediated dUTP nick end labeling (TUNEL) staining method to detect cell apoptosis, Western blotting to determine protein expression of reduced nicotinamide adenine dinucleotide phosphate (NADPH) oxidase 2, NADPH oxidase 4, and superoxide dismutase. Results Four patients (13.3%) in the control group and 2 patients (6.7%) in the exercise group dropped out; the completion rate of the exercise group's training plan was 94.9%. Compared with the before-intervention indicators, blood pressure decreased, brachial artery FMD increased, number of circulating endothelial progenitor cells increased, their migration and tube formation ability were enhanced, reactive oxygen species levels and cell apoptosis rate were reduced, NADPH oxidase 2 and NADPH oxidase 4 protein expressions were down-regulated, and superoxide dismutase protein expression was up-regulated in the after-intervention exercise group, and the differences were all statistically significant (P < 0.05). There was no significant difference in the above indicators in the control group between before and after intervention (P > 0.05). Conclusion High-intensity intermittent exercise regulates oxidative stress mediated by NADPH oxidase, improves endothelial progenitor cell function, and restores vascular endothelial disorders in patients with essential hypertension.

ObjectiveTo analyze the epidemiological characteristics and trends of hand-foot-mouth disease (HFMD) in Hangzhou, so as to provide an evidence for developing effective prevention and control measures and evaluating the control effects. MethodsThe incidence data of HFMD in Hangzhou were collected from the Infectious Disease Reporting Information Management System of China Information System for Disease Control and Prevention. Descriptive epidemiology was applied to analyze the temporal, spatial and demographic distribution characteristics and etiology monitoring results of HFMD cases in Hangzhou from 2010 to 2023. Joinpoint regression model was used to analyze the trends of incidence rate of HFMD. Furthermore, circular distribution method was utilized to calculate the incidence peak of HFMD. ResultsFrom 2010 to 2023, the average annual reported incidence rate of HFMD in Hangzhou was 138.85/100 000, the proportion of severe cases was 0.04%, the mortality rate was 0.01/100 000, and the case fatality rate was 5.30/100 000. Both the total incidence rate and the incidence rate by sex showed an increasing trend. The annual reported incidence rate in males (158.72/100 000) was higher than that in females (117.61/100 000). The reported incidence rate showed a significant seasonal characteristic, with summer being the peak of epidemic. The results of surveillance samples suggested that the prevalence of HFMD in Hangzhou is characterized by the co-existence of multiple pathogens, with EV-A71 and CV-A16 being the dominant pathogens in the previous years and CV-A6 being the dominant pathogen since 2018. The proportion of EV-A71 in severe cases (77.19%) was higher than that in ordinary cases (15.37%), in addition, its proportion in ordinary cases, severe cases, and fatal cases all showed a decreasing trend. ConclusionThe incidence rate of HFMD in Hangzhou is still high, so it’s still necessary to continue to strengthen the prevention and control measures for key populations. In recent years, CV-A6 has been the main prevalent pathogen in Hangzhou. Further efforts in pathogen detection and analysis should be enhanced in the future.

Objective:To analyze the characteristics of cardiovascular and cerebrovascular diseases in patients with primary aldosteronism (PA) and compare them with age-, sex-, and blood pressure-matched patients with essential hypertension (EH).Methods:This cross-sectional study was conducted at the West China Hospital of Sichuan University. Patients with PA and EH between December 2018 and December 2021 were included. Demographic characteristics, stroke events, coronary artery diseases, peripheral vascular diseases, and cardiac structure and function indicators were analyzed. Propensity score matching (PSM) was used to balance non-study data. The t-test, chi-square test, and Wilcoxon signed-rank test were used for data comparison. The cardiovascular and cerebrovascular damage in the patients with unilateral and bilateral PA were also compared. Results:A total of 336 and 369 patients with PA and EH, respectively, were enrolled in this study. One hundred and ninety-eight patients from each group were included after PSM; no significant differences were found in terms of age, gender, and blood pressure. The prevalence of stroke in the PA group was considerably higher than that in the EH group [12.6% (25/198) vs. 5.6% (11/198), P=0.014], due to the significantly greater risk of ischemic stroke [10.0% (20/198) vs. 4.5% (9/198), P=0.029]. The prevalence of hemorrhagic stroke, coronary artery disease, peripheral arterial stenosis, aorta atherosclerosis, and aneurysm in the PA group were also higher than those in the EH group, but there was no statistical significance (all P>0.05). More patients with PA had concurrent left ventricular hypertrophy [22.2% (44/198) vs. 9.1% (18/198)], left atrial enlargement [40.4% (80/198) vs. 30.3% (60/198)], ventricular septal thickening [50.0% (99/198) vs. 36.9% (73/198)], and aortic widening [21.7% (43/198) vs. 13.1% (26/198)] than those with EH (all P<0.05). Compared with the bilateral PA group, the unilateral PA group had higher prevalence of left ventricular hypertrophy [28.3% (51/180) vs. 13.4% (11/82), P=0.013]. Conclusions:Compared with well-matched patients with EH, patients with PA have significantly higher risks of cardiovascular and cerebrovascular diseases, which are mainly manifested in increased prevalence of stroke and severe damage to the cardiac structure. Patients with unilateral PA may suffer more severe cardiac damage than those with bilateral PA.

Objective:To construct a risk assessment index system for occupational disease hazards in the automotive repair industry using the Delphi method, providing a scientific basis and systematic evaluation framework for occupational hazard management in this sector.Methods:In January 2024, an expert survey method was employed to identify occupational hazard risk indicators through in-depth expert discussions. A multidimensional and hierarchical assessment system was designed based on the two core elements of "comprehensive prevention-on-site hazards."Results:The consultation results from 20 authoritative experts demonstrated that the expert authority coefficient (0.84), coordination coefficient (0.73), and reliability coefficient (0.83) all reached robust levels. The importance scores of the indicators (ranging from 3.47 to 5.59 points) exhibited clear discriminative validity. Ultimately, an assessment system comprising 2 first-level indicators, 5 second-level indicators, and 14 third-level indicators was established.Conclusion:The index system developed in this study demonstrates high scientific rigor and practical applicability. It provides a systematic evaluation tool for the hierarchical management and targeted prevention of occupational disease hazards in the automotive repair industry, offering both theoretical support and practical guidance for occupational hazard risk control in this field.

Objective:To investigate the changes in thyroid hormone levels and inflammatory markers in critically ill children，analyze their correlation with disease severity，and explore their potential impact on prognosis,providing references for clinical management and prognosis assessment in critical illness.Methods:A retrospective cohort study was conducted involving 394 pediatric patients admitted to the ICU of the Capital Pediatric Institute Affiliated Children's Hospital from 2019 to 2023.Based on the pediatric critical illness score,patients were divided into three groups:the extremely critical group (score ≤ 70, n=81),the critical group (score 71–80, n=150),and the non-critical group (score>80, n=163).Data collected included thyroid function indicators，inflammatory markers[C-reactive protein（CRP)，procalcitonin(PCT),tumor necrosis factor(TNF)-α，interleukin (IL)，etc.]，clinical information，and outcomes.The correlation between thyroid function indicators and inflammatory markers were analyzed.The predictive value of thyroid function indicators and inflammatory markers for prognosis in critically ill pediatric patients was assessed. Results:Of the 394 children,non-thyroidal disease syndrome occurred in 321 cases,with an overall incidence of 81.5%,which increased with disease severity.Thyroid hormone [total triiodothyronine (TT3),free triiodothyronine (FT3),and total tetraiodothyronine (TT4)] levels were significantly lower in the extremely critical group than in the other groups ( P<0.05).Inflammatory markers such as CRP,PCT,TNF-α,IL-6,IL-8,and IL-10 were significantly higher in the extremely critical group than in the other groups ( P<0.05).Thyroid hormones were negatively correlated with inflammatory markers,and the receivor operating characteristic curves analysis indicated that TT3,FT3,IL-6 and IL-8 levels,could effectively differentiate disease prognosis.Univariate regression model showed significant associations between TT3,FT3,TT4,PCT,IL-8,and IL-10 and disease prognosis.The multivariate Logistic regression model showed IL-6 and IL-8 were independent predictors of disease prognosis. Conclusion:Significant reductions in thyroid hormone levels are closely related to disease severity and poor prognosis.Changes in inflammatory markers reflect the inflammatory state and severity of the disease and impact prognosis.Monitoring thyroid function and inflammatory status is important in clinical management，which provids new insights into prognosis assessment and treatment strategies for critically ill children.

Objective:To explore and analyze the feasibility and efficacy of the 22G needle-guided suture for orbital septum fat flap fixation on the periosteum.Methods:The retrospective study was conducted. From January 2022 to November 2023, patients with tear trough deformity and eyelid bags underwent surgery of releasing the orbicularis retaining ligament (ORL) complex, orbital septum fat pad combined with 22G needle-guided suture in Department of Burn and Plastic Surgery, the First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology. Postoperative follow-up was conducted to observe the occurrence of complications. The lacrimal depression deformity was classified according to the Hirmand standard and the degree of lower eyelid bags was graded to evaluate the surgical outcome. Patients were evaluated their satisfaction using the visual analogue scale (very dissatisfied, dissatisfied, average, satisfied, very satisfied).Results:A total of 32 patients (30 females and 2 males) were included in this study. The age range was 31-62 years old with an average of 50.2 years. All patients were followed up for 6 months postoperatively. None of the patients had any severe complications, such as inferior eyelid ectropion, inferior eyelid retraction, scar hyperplasia, and diplopia. Four patients showed mild eyelid-eyeball separation, two patients had conjunctival edema, and all recovered in 1 month. The orbital fat protrusion, tear trough depression deformity, and lower eyelid skin laxity were significantly improved compared to before the operation. Postoperative satisfaction was 22 cases, very satisfied 10 cases, and patient satisfaction rate was 100% (32/32) after surgery.Conclusion:The method of 22G needle-guided suture to fix orbital septum fat pad represents a technically feasible, easy, and suitable for promotion.

Objective:To investigate the local hemodynamic spatial distribution of internal carotid artery stenosis and its correlation with plaque characteristics using high-resolution vessel wall imaging (HR-VWI) combined with computational fluid dynamics.Methods:This was a cross-sectional study. A retrospective analysis was conducted on the clinical and imaging data of 70 patients with moderate to severe stenosis at the initiation of the internal carotid artery in First Teaching Hospital of Tianjin University of Traditional Chinese Medicine and Tianjin First Central Hospital from March 2018 to June 2020. All patients underwent HR-VWI and CT angiography examinations. The parameters related to plaque characteristics, such as plaque length, maximum wall thickness, plaque volume, wall volume percentage and intraplaque hemorrhage (IPH) were measured and evaluated on HR-VWI images. CT angiography images were used to construct a local hemodynamic vascular model to measure various wall shear stress (WSS) derived parameters, such as time-averaged wall shear stress (TAWSS), oscillatory shear index (OSI), relative residence time (RRT), and transverse wall shear stress (transWSS), at the narrowest, proximal, and distal parts of the lesion. The Friedman test was used to analyze the difference of hemodynamic parameters in different parts of the lesion. Spearman correlation analysis was performed to assess the correlation between plaque burden and local hemodynamic parameters. Univariate and multivariate logistic regression analyses were used to explore the independent risk factors for predicting IPH.Results:Among the 70 patients, 25 patients with IPH and 45 patients without IPH. The overall differences in TAWSS, OSI, RRT and transWSS at the narrowest, proximal, and distal parts of the lesion in 70 patients were statistically significant ( P<0.05). The TAWSS and transWSS at the narrowest parts were significantly higher than those at the proximal and distal parts ( P<0.05). The OSI at the distal part was significantly higher than that at the narrowest and the proximal parts ( P<0.05). The RRT at the proximal part was significantly lower than that at the narrowest and the distal parts ( P<0.05). Spearman correlation analysis showed RRT at the distal part was correlated with plaque volume ( r s=0.249, P=0.044) and wall volume percentage ( r s=0.286, P=0.016), respectively. In a multivariate logistic regression showed plaque length ( OR=1.315, 95% CI 1.073-1.612, P=0.008) and TAWSS at the narrowest part ( OR=1.631, 95% CI 1.308-1.854, P=0.008) were independent risk factors for predicting IPH. Conclusions:The spatial distribution of local hemodynamics of moderate to severe stenosis at the initiation of the internal carotid artery is different, and the WSS parameters in different parts of the lesion have different effects on plaque volume, wall volume percentage and IPH.