OBJECTIVE: To summarize the clinical and genetic characteristics of children with Silver-Russell syndrome (SRS) and improve the recognition of this disease. METHODS: A retrospective analysis was conducted on the clinical manifestations and genetic testing results of 29 children with SRS diagnosed at the Children's Hospital Affiliated to Zhengzhou University between March 2016 and June 2025. RESULTS: The 29 children had included 18 boys and 11 girls, with the age ranging from 2 months to 16 years. Their primary clinical manifestations included postnatal growth retardation (100%), small for gestational age (SGA) (100%), characteristic facial features (90%), limb asymmetry (83%), feeding difficulties (76%), ulnar deviation of the fifth finger (69%), body mass index (BMI) of < -2 SD (62%), and abnormal bone age (55%), including 15 cases with delayed bone age for an average of 1.5 years and 1 case with advanced bone age for 2.5 years. Additional manifestations included abnormal sexual development in 11 cases (38%), dental malocclusion in 11 cases (38%), allergic diseases in 10 cases (34%), cardiac diseases in 9 cases (31%), skeletal abnormalities in 7 cases (24%), renal hypoplasia in 5 cases (17%), and abnormal cranial MRI findings in 5 cases (17%). Twenty children were treated with recombinant human growth hormone (rhGH) at a dose of 0.1 ~ 0.15 U/(kg.d). Among them, 7 cases achieved annual height increase of ≥ 10 cm, 11 cases achieved annual height increase of ≥ 5 ~ 9 cm, and 2 cases achieved annual height increase < 5 cm. Twenty three children exhibited hypomethylation of imprinted genes in the chromosome region of 11p15, 4 presented maternal uniparental disomy of chromosome 7 [UPD(7)mat], and 2 had harbored nonsense variants of the HMGA2 gene. CONCLUSION SRS patients may present with diverse clinical manifestations including postnatal growth retardation, SGA, characteristic facial features, limb asymmetry, feeding difficulties, and ulnar deviation of the fifth finger. Most patients may exhibit abnormal methylation in the 11p15 region. rhGH therapy can improve the height of these patients.
Humans ; Silver-Russell Syndrome/diagnosis* ; Male ; Female ; Child ; Child, Preschool ; Infant ; Adolescent ; Retrospective Studies

Objective: To evaluate oral health status and knowledge, attitude and practice (KAP) among third grade primary school students after the implementation of the Comprehensive Intervention Project for Childhood Oral Diseases in Guizhou Province, so as to provide evidence for program optimization. Methods: Using a multistage cluster sampling method, oral examinations and questionnaire surveys were conducted among third grade primary school students in schools covered by the Comprehensive Intervention Project for Childhood Oral Diseases in Guizhou Province (intervention group, n =1 030) and schools not covered by the program (control group， n =1 130) in November 2023. A follow up survey was conducted one year after the project s implementation (December 2024) to evaluate the differences in oral health status and KAP between the two groups. The t-test and χ 2 test were used to compare means and rates, respectively. Results: One year after implementation, the permanent caries prevalence, caries filling ratio, mean dmft/DMFT, and mean simplified debris index in the intervention group were 33.3%, 22.3 %, 3.44±3.10, 0.77±0.56, which were all better than those in the control group (39.8%, 17.3%, 3.89±2.85, and 0.87± 0.63 ) ( χ 2/ t =9.87, 8.78, -2.59, -3.91,all P <0.05). After intervention, the levels of oral health knowledge, attitude and behaviors in the intervention group were better than those in the control group ( Z =7.69, 2.35, 2.10, all P <0.05). Except for the item "fluoride has no protective effect on teeth", the correct response rates of other oral health knowledge items in the intervention group were higher than those in the control group ( χ 2=3.92-163.94, all P <0.05). The reported rates of tooth brushing related behaviors and sugary beverage consumption were higher in the intervention group than in the control group ( χ 2=4.02-11.42，all P <0.05). Conclusions The Comprehensive Intervention Project for Childhood Oral Diseases improves children s oral health status, oral health knowledge, and some oral health behaviors, but has limited effects on some behaviors and oral health attitudes. Future efforts should focus on the factors influencing the transformation of children s oral health attitudes and behaviors, along with strengthening long term follow up evaluations.

This study aims to describe the population and regional distribution characteristics of smoking behavior among adult twins in the China Twin Registry (CNTR), as well as the concordance rates for smoking behavior in monozygotic and dizygotic twins, and estimate the heritability. The study population included adult twins in CNTR who had smoking questionnaire data. A random-effects regression model was used to describe the distribution of smoking behavior among different subgroups based on various characteristics. The concordance of smoking behavior between different zygosity groups was calculated, and heritability was estimated. A total of 28 444 twin pairs were included in this study, with an average age of (36.6±12.0) years. Among male twins, 41.2% were current smokers, while only 1.2% of females smoked. Higher smoking rates were observed among male smokers in the 50-59 age group ( z=23.0, P<0.001), northern regions ( z=2.9, P<0.01), rural areas ( z=-5.2, P<0.001), those who were divorced/widowed ( z=3.8, P<0.001), and first-born twins ( z=-4.3, P<0.001), while lower smoking rates were found in those with higher education ( z=-16.1, P<0.001) and unmarried individuals ( z=-16.0, P<0.001). The smoking concordance rate for male monozygotic twins was 69.6%, significantly higher than the 57.3% concordance rate for dizygotic twins ( χ 2=105.0, P<0.05). The heritability of smoking behavior in male twins was estimated at 28.9% (95% CI: 24.3%-33.4%). Stratified analyses showed differences in heritability across regions and age groups: the heritability in northern regions was 32.6% (95% CI: 27.3%-38.0%), higher than the 21.0% (95% CI: 12.4%-29.5%) observed in southern regions; the highest heritability of 35.1% (95% CI: 26.3%-43.9%) was found in the 18-29 age group, with heritability decreasing with age. In conclusion, the smoking rate and influencing factors in the twin population are similar to those in the general population, with unique characteristics, such as higher smoking rates in first-born twins. Genetic factors have a significant impact on smoking behavior.

Objective To establish an expert consensus on in-hospital transfer safety management for patients undergoing invasive mechanical ventilation,providing guidance for clinical medical teams to conduct standardized transfers,reduce transfer risks,and ensure patient safety.Methods Through systematic searching,screening,evaluation,and summary of evidence related to in-hospital transfer safety management for patients on invasive mechanical ventilation,we extracted recommendations to form a preliminary draft of the expert consensus.From July to October 2024,totally 2 rounds of expert consultations,and 2 rounds of expert reviews were conducted,and the content was refined and finalized based on expert feedback.Results The final consensus encompasses 9 aspects,including transfer assessment and decision-making,pre-transfer preparation of medical staff,pre-transfer patient preparation,pre-transfer equipment preparation,pre-transfer medication preparation,monitoring and intervention during transfer,emergency events and management,transfer handover and documentation,and post-transfer management.Conclusion This consensus demonstrates strong practicality and operability,offering professional guidance for enhancing the safety of in-hospital transfers for patients on invasive mechanical ventilation.

Objective To observe the value of multi-task improved nnU-Net model based on enhanced CT for segmenting primary oral cancer and predicting patients'relapse free survival(RFS).Methods Enhanced CT data of 186 cases of primary oral cancer were retrospectively analyzed,and a multi-task improved nnU-Net model was constructed for tumor segmentation and survival prediction tasks.Pre-training of tumor segmentation was completed with nnU-Net as the baseline network,and the accuracy of recognizing and segmenting tumor was improved by enhancing the decoder through the modified skip connection.Then univariable and multivariable regression analyses were used to select clinical features closely associated with RFS.Radiomics and deep learning features were also extracted to construct a survival prediction model,with fine-tuning of the above model.The training set,validation set and test set were divided at a ratio of 7∶2∶1.Dice similarity coefficient(DSC)was used to evaluate the segmentation performance of the modified model,and the consistency index C-index was used to verify the performance of the improved model for predicting RFS.Results DSC of the multi-task improved nnU-Net model(0.78)for segmenting primary oral cancer was superior to that of 3D Inception ResNet(0.65),3D InceptSENet(0.75)and 3D U-Net models(0.69),respectively,its C-index for predicting RFS(0.798)was higher than that of Cox regression model(0.744),ICARE model(0.761),random forest model(0.744),DeepSurv model(0.735),nnU-Net model(0.760)and radiology+nnU-Net model(0.744),respectively.DSC for segmenting primary oral cancer and C-index for predicting RFS of multi-task improved nnU-Net model were both superior to those of simple baseline network(0.653 and 0.649),baseline network+multi-scale convolution fusion(0.755 and 0.752),as well as baseline network combined with clinical features(0.764 and 0.759),radiomics features(0.770 and 0.764)and clinical+radiomics features(0.773 and 0.761),respectively.Conclusion Multi-task improved nnU-Net model could be used to effectively improve the accuracy of tumor segmentation and predicting patients'RFS.

Objective To investigate the association between plasma homocysteine(Hcy)level and coronary artery calcification(CAC)and its clinical predictive efficacy.Methods A total of 172 patients who underwent coronary CT angiography North China University of Science and Technology Affiliated Hospital from April 2019 to May 2021 and CAC score(CACS)＞0 were enrolled.According to the CACS value,the subjects were divided into mild calcification group(n=136)and severe calcification group(n=36),and the clinical characteristics of two groups were compared and analyzed.Multivariate Logistic regression model was used to screen the independent influencing factors of CAC severity,and a prediction model was constructed based on the Hcy detection value.The clinical diagnostic value was evaluated by the receiver operating characteristic(ROC)curve.Results There were significant differences in Hcy,white blood cell count,triglyceride and magnesium ion levels between two groups(P＜0.05).Multivariate Logistic regression analysis showed that Hcy,white blood cell count and magnesium ion level were independent risk factors for the progression of CAC.Furthermore,a regression model based on Hcy was constructed and ROC curve was fitted to evaluate its predictive efficacy.The results suggested that the predictive model had the best performance when the critical value of Hcy was set at 27.4μmol/L:the sensitivity was 55.6％,the specificity was 97.1％,and the area under the curve was 0.765.Conclusion Hcy serves as an independent risk factor for the severity of CAC and can effectively predict the progression of CAC with high accuracy.

Objective:To observe the clinical efficacy of gentle moxibustion at different temperatures in treating people with diarrhea-predominant bowel syndrome(IBS-D)due to spleen deficiency.Methods:A total of 108 IBS-D patients were divided into two groups using the random number table method,with 54 participants in each group.Moxibustion group 1 received gentle moxibustion at(43±1)℃at bilateral Tianshu(ST25)and Zusanli(ST36),lasting 30 min each session;moxibustion group 2 received gentle moxibustion at(37±1)℃at the same points.Both groups received the intervention 3 times weekly for a total of 18 sessions.Abdominal pain intensity,stool form,pattern-based efficacy,quality of life,and mental health assessments were performed at weeks 0,3,6,and 8.Results:The total effective rate for abdominal pain intensity was 87.8%in moxibustion group 1 versus 51.1%in moxibustion group 2,and the difference was statistically significant(P<0.05).When the treatment finished,abdominal pain intensity,the Bristol score,IBS-symptom severity scale(IBS-SSS)score,self-rating anxiety scale(SAS)score,and self-rating depression scale(SDS)score dropped significantly in both groups(P<0.05),and the IBS-quality of life(IBS-QOL)score increased markedly(P<0.05).Between-group comparisons demonstrated that abdominal pain intensity,the Bristol general score,IBS-SSS score,traditional Chinese medicine(TCM)pattern score,and SDS score were significantly lower in moxibustion group 1 than in moxibustion group 2 at treatment week 6(P<0.05),and the IBS-QOL score was notably higher in moxibustion group 1(P<0.05).Conclusion:Whether at 43℃or 37℃,gentle moxibustion at Tianshu(ST25)and Zusanli(ST36)can improve abdominal pain,stool form,and quality of life,reduce disease severity,and mitigate TCM pattern in IBS-D patients;43℃gentle moxibustion performs better than 37℃gentle moxibustion in improving abdominal pain,stool form,disease severity,TCM pattern,quality of life,anxiety,and depression in IBS-D.

Objective:To explore the effectiveness of rapid cycle deliberate practice (RCDP) in training newly hired nurses′comprehensive emergency competence and to provide references for enhancing their capabilities.Methods:A quasi-experimental study was conducted using purposeful sampling. From September to December 2022, newly hired nurses at Liaocheng Second People′s Hospital were selected as research subjects and randomly assigned to a controlor an observation group using random number table. The control group received traditional group drill training, while the observation group underwent RCDP training. The study compared pre- and post-training scores of emergency theory and skill assessments, scores on the Chinese version of the Perceived Cognitive Ability Scale in Emergency Situations (PCAS), and training satisfaction levels between the two groups.Results:Each group comprised 30 nurses. The control group consisted of 3 males and 27 females, with a mean age of (22.70 ± 1.09) years; the observation group included 2 males and 28 females, with a mean age of (22.93 ± 0.87) years. Post-training comprehensive emergency competence assessment scores was (89.19 ± 1.47) in the control group and (93.00 ± 1.41) in the observation group, with a statistically significant difference ( t = - 4.60, P<0.01). The scores and total scores of PCAS in the observation group were (34.23 ± 1.91), (12.70 ± 1.62), (10.03 ± 1.52) and (56.97 ± 3.09), respectively, which were higher than the (31.70 ± 2.42), (11.90 ± 1.16), (9.10 ± 1.42), and (52.47 ± 3.65) in the control group, the difference between the two groups were statistically significant ( t value were - 5.16 - - 2.20, all P<0.05). The total score of training satisfaction of nurses in the observation group was (41.93 ± 2.53) points, and the difference was statistically significant compared with the (33.80 ± 2.58) pointsin the control group ( t = - 12.33, P<0.01). Conclusions:The application of the RCDP method in training newly recruited nurses′comprehensive emergency competence effectively enhances their learning enthusiasm and initiative, thereby improving training outcomes.

This study aims to describe the population and regional distribution characteristics of smoking behavior among adult twins in the China Twin Registry (CNTR), as well as the concordance rates for smoking behavior in monozygotic and dizygotic twins, and estimate the heritability. The study population included adult twins in CNTR who had smoking questionnaire data. A random-effects regression model was used to describe the distribution of smoking behavior among different subgroups based on various characteristics. The concordance of smoking behavior between different zygosity groups was calculated, and heritability was estimated. A total of 28 444 twin pairs were included in this study, with an average age of (36.6±12.0) years. Among male twins, 41.2% were current smokers, while only 1.2% of females smoked. Higher smoking rates were observed among male smokers in the 50-59 age group ( z=23.0, P<0.001), northern regions ( z=2.9, P<0.01), rural areas ( z=-5.2, P<0.001), those who were divorced/widowed ( z=3.8, P<0.001), and first-born twins ( z=-4.3, P<0.001), while lower smoking rates were found in those with higher education ( z=-16.1, P<0.001) and unmarried individuals ( z=-16.0, P<0.001). The smoking concordance rate for male monozygotic twins was 69.6%, significantly higher than the 57.3% concordance rate for dizygotic twins ( χ 2=105.0, P<0.05). The heritability of smoking behavior in male twins was estimated at 28.9% (95% CI: 24.3%-33.4%). Stratified analyses showed differences in heritability across regions and age groups: the heritability in northern regions was 32.6% (95% CI: 27.3%-38.0%), higher than the 21.0% (95% CI: 12.4%-29.5%) observed in southern regions; the highest heritability of 35.1% (95% CI: 26.3%-43.9%) was found in the 18-29 age group, with heritability decreasing with age. In conclusion, the smoking rate and influencing factors in the twin population are similar to those in the general population, with unique characteristics, such as higher smoking rates in first-born twins. Genetic factors have a significant impact on smoking behavior.

Objective To establish an expert consensus on in-hospital transfer safety management for patients undergoing invasive mechanical ventilation,providing guidance for clinical medical teams to conduct standardized transfers,reduce transfer risks,and ensure patient safety.Methods Through systematic searching,screening,evaluation,and summary of evidence related to in-hospital transfer safety management for patients on invasive mechanical ventilation,we extracted recommendations to form a preliminary draft of the expert consensus.From July to October 2024,totally 2 rounds of expert consultations,and 2 rounds of expert reviews were conducted,and the content was refined and finalized based on expert feedback.Results The final consensus encompasses 9 aspects,including transfer assessment and decision-making,pre-transfer preparation of medical staff,pre-transfer patient preparation,pre-transfer equipment preparation,pre-transfer medication preparation,monitoring and intervention during transfer,emergency events and management,transfer handover and documentation,and post-transfer management.Conclusion This consensus demonstrates strong practicality and operability,offering professional guidance for enhancing the safety of in-hospital transfers for patients on invasive mechanical ventilation.