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 analyze the use of anticholinergic medications at discharge among elderly patients with chronic heart failure(CHF)and its associated risk factors.Methods Clinical data of 240 elderly CHF patients admitted in our Department of Cardiovascular Diseases between January 1,2020,and December 31,2023 were colloected.Based on ACB score,they were divided into an an-ticholinergic group(ACB score≥1,223 cases)and a non-anticholinergic group(ACB score of 0,17 cases).Using the ACB score,the anticholinergic burden was quantified,and the relationship be-tween anticholinergic burden and various related factors was analyzed using logistic regression.Results The anticholinergic group had significantly younger age[(75.17±7.21)years vs(79.12±8.75)years,P＜0.05],and larger number of discharge medications[8(6,10)vs 5(4,7),P＜0.01]when compared with the non-anticholinergic group.Logistic regression analysis showed that the number of discharge medications was an independent risk factor for increased anticholinergic bur-den in the elderly CHF patients(OR=1.575,95％CI:1.249-1.986,P=0.001).Conclusion The proportion of elderly CHF patients using anticholinergic medications is relatively high.Clinically,special attention should be given to polypharmacy to reduce the incidence of adverse events caused by anticholinergic drugs.

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 the effect of combining resistance training with stem cell transplantation on vascular remodeling after myocardial infarction, so as to provide a theoretical basis and treatment for clinical use.Methods:Seventy-five Sprague-Dawley rats were randomly divided into a sham operation group, a model group, a stem cell group, and a training and model combination group. All except the sham operation group underwent myocardial infarction modeling by ligation of the left anterior descending coronary artery. The stem cell group then received transplanted bone marrow mesenchymal stem cells (MSCs) and the training group performed weight-bearing ladder training. The combination group was given both interventions. The experiments lasted 8 weeks. At the end of the final exercise session, cardiac structure and functioning and myocardial blood flow were assessed using color Doppler ultrasound. Any pathological changes were observed through HE and Masson staining. Capillary density in the heart was determined via CD31 immunohistochemical staining. The expression levels of vascular endothelial growth factor (VEGF), CD31, α-smooth muscle actin (α-SMA), and endothelial nitric oxide synthase (eNOS) proteins were measured using western blotting.Results:Compared with the model group, cardiac structure and function showed significant improvement in the stem cell, training and combination groups. This was manifested as decreased end-diastolic diameter and end-systolic diameter in the left ventricle, along with increased left ventricular ejection fraction, left ventricular fraction shortening, the ratio of early to late diastolic filling velocity, and myocardial blood flow. Histological examination revealed a significant increase in capillary density, reduced collagen area, and less pathological hypertrophy of cardiomyocytes in the stem cell, training and combination groups. In those groups there was also upregulation of angiogenesis-related cytokines (VEGF, CD31, α-SMA and p-eNOS). Notably, all these improvements were particularly pronounced in the combination group.Conclusion:Resistance training combined with stem cell transplantation effectively improves vascular remodeling and enhances cardiac function after a myocardial infarction, at least in rats. The combination is more effective than either intervention alone.

Objective:To explore the effect of combining resistance training with stem cell transplantation on vascular remodeling after myocardial infarction, so as to provide a theoretical basis and treatment for clinical use.Methods:Seventy-five Sprague-Dawley rats were randomly divided into a sham operation group, a model group, a stem cell group, and a training and model combination group. All except the sham operation group underwent myocardial infarction modeling by ligation of the left anterior descending coronary artery. The stem cell group then received transplanted bone marrow mesenchymal stem cells (MSCs) and the training group performed weight-bearing ladder training. The combination group was given both interventions. The experiments lasted 8 weeks. At the end of the final exercise session, cardiac structure and functioning and myocardial blood flow were assessed using color Doppler ultrasound. Any pathological changes were observed through HE and Masson staining. Capillary density in the heart was determined via CD31 immunohistochemical staining. The expression levels of vascular endothelial growth factor (VEGF), CD31, α-smooth muscle actin (α-SMA), and endothelial nitric oxide synthase (eNOS) proteins were measured using western blotting.Results:Compared with the model group, cardiac structure and function showed significant improvement in the stem cell, training and combination groups. This was manifested as decreased end-diastolic diameter and end-systolic diameter in the left ventricle, along with increased left ventricular ejection fraction, left ventricular fraction shortening, the ratio of early to late diastolic filling velocity, and myocardial blood flow. Histological examination revealed a significant increase in capillary density, reduced collagen area, and less pathological hypertrophy of cardiomyocytes in the stem cell, training and combination groups. In those groups there was also upregulation of angiogenesis-related cytokines (VEGF, CD31, α-SMA and p-eNOS). Notably, all these improvements were particularly pronounced in the combination group.Conclusion:Resistance training combined with stem cell transplantation effectively improves vascular remodeling and enhances cardiac function after a myocardial infarction, at least in rats. The combination is more effective than either intervention alone.

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 compare the effect of high frequency oscillatory ventilation (HFOV) and conventional mechanical ventilation (CMV) in the treatment of pediatric acute respiratory distress syndrome (ARDS).Methods:A prospective randomized controlled study was conducted on ARDS children treated with mechanical ventilation in the Intensive Care Unit (ICU) of Children′s Hospital, Capital Institute of Pediatric from January 2017 to December 2018.They were randomly (computer digital method) divided into HFOV group and CMV group.The basic data and clinical indicators, such as pediatric critical illness scores, oxygenation index (OI), blood gas, mechanical ventilation time, ventilator parameters, ICU hospitalization time, complications, prognosis, dynamic changes of inflammatory factors, use of sedative muscle relaxants and vasoactive drugs, were recorded.SPSS 22.0 software was used to analyze the data.The Mann Whitney U test was used for inter-group comparison.The χ2 test was adopted for the comparison of counting data. Results:A total of 45 children were included in the analysis.There were 21 cases in the HFOV group and 24 cases in the CMV group.Moderate and severe ARDS was detected in 34 cases, including 16 cases in the HFOV group and 18 cases in the CMV group.Compared with those in the CMV group, the levels of OI-24 h and OI-48 h in the HFOV group were significantly lower [7.4 (5.9, 8.6) vs.9.0 (6.7, 13.6), P=0.018] and [5.9 (5.2, 8.5) vs.9.2 (7.4, 12.4), P=0.001].The levels of OI-6 h [8.2(6.5, 10.0) vs.10.5(8.2, 13.0), P=0.037], OI-12 h[7.8(6.5, 9.0) vs.9.8(8.0, 12.8), P=0.009], OI-24 h [7.7(6.4, 8.6) vs.10.1(8.7, 15.5), P<0.001], OI-48 h [6.0(5.3, 8.6) vs.10.7(8.8, 13.1), P<0.001] and OI-72 h [5.8(5.0, 8.6) vs. 8.0(6.6, 10.6), P=0.031] in children with moderate to severe ARDS of the HFOV group were significantly lower than those of the CMV group.There were no significant differences in ICU hospitalization time, invasive mechanical ventilation time, total mechanical ventilation time, 28-day prognosis, vasoactive drugs, muscle relaxants, blood purification, fluid balance, inflammatory factors, intracranial hemorrhage and pneumothorax between the 2 groups. Conclusions:This study confirms that HFOV can improve the oxygenation level in pediatric patients with ARDS more rapidly than CMV.HFOV does not increase the incidence of complications such as pneumothorax and intracranial hemorrhage, and the use of vasoactive drugs and muscle relaxants, showing safety in clinical application.

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 compare the effect of high frequency oscillatory ventilation (HFOV) and conventional mechanical ventilation (CMV) in the treatment of pediatric acute respiratory distress syndrome (ARDS).Methods:A prospective randomized controlled study was conducted on ARDS children treated with mechanical ventilation in the Intensive Care Unit (ICU) of Children′s Hospital, Capital Institute of Pediatric from January 2017 to December 2018.They were randomly (computer digital method) divided into HFOV group and CMV group.The basic data and clinical indicators, such as pediatric critical illness scores, oxygenation index (OI), blood gas, mechanical ventilation time, ventilator parameters, ICU hospitalization time, complications, prognosis, dynamic changes of inflammatory factors, use of sedative muscle relaxants and vasoactive drugs, were recorded.SPSS 22.0 software was used to analyze the data.The Mann Whitney U test was used for inter-group comparison.The χ2 test was adopted for the comparison of counting data. Results:A total of 45 children were included in the analysis.There were 21 cases in the HFOV group and 24 cases in the CMV group.Moderate and severe ARDS was detected in 34 cases, including 16 cases in the HFOV group and 18 cases in the CMV group.Compared with those in the CMV group, the levels of OI-24 h and OI-48 h in the HFOV group were significantly lower [7.4 (5.9, 8.6) vs.9.0 (6.7, 13.6), P=0.018] and [5.9 (5.2, 8.5) vs.9.2 (7.4, 12.4), P=0.001].The levels of OI-6 h [8.2(6.5, 10.0) vs.10.5(8.2, 13.0), P=0.037], OI-12 h[7.8(6.5, 9.0) vs.9.8(8.0, 12.8), P=0.009], OI-24 h [7.7(6.4, 8.6) vs.10.1(8.7, 15.5), P<0.001], OI-48 h [6.0(5.3, 8.6) vs.10.7(8.8, 13.1), P<0.001] and OI-72 h [5.8(5.0, 8.6) vs. 8.0(6.6, 10.6), P=0.031] in children with moderate to severe ARDS of the HFOV group were significantly lower than those of the CMV group.There were no significant differences in ICU hospitalization time, invasive mechanical ventilation time, total mechanical ventilation time, 28-day prognosis, vasoactive drugs, muscle relaxants, blood purification, fluid balance, inflammatory factors, intracranial hemorrhage and pneumothorax between the 2 groups. Conclusions:This study confirms that HFOV can improve the oxygenation level in pediatric patients with ARDS more rapidly than CMV.HFOV does not increase the incidence of complications such as pneumothorax and intracranial hemorrhage, and the use of vasoactive drugs and muscle relaxants, showing safety in clinical application.