【Objective】 To explore the application value of different language assessment tools in the assessment of language development of 12-month-old high-risk infants, and to screen out simple and valid language assessment tools. 【Methods】 A total of 217 11- to 13-month-old high-risk infants who were followed up at the outpatient service for high-risk infants at the child health clinic of Guiyang Maternal and Child Health Hospital from March 2022 to May 2023 were selected as the study subjects. Their language was evaluated by Early Language Milestone Scale (ELMS), Putonghua Communicative Development Inventory (PCDI) and Ages and Stages Questionnaire-Third Edition (ASQ-3). With Gesell as the gold standard for the assessment of language, the area under receiver operating characteristic curve (AUC), sensitivity, specificity, accuracy, positive predictive value, negative predictive value, Youden index and Kappa value of the three tools were calculated. Spearman correlation analysis was used to analyze the correlation between the different language assessment scales. The Technique for Order Preference by Similarity to Ideal Solution (TOPSIS) was used to evaluate the three tools. 【Results】 1)Among 217 high-risk infants, 78 preterm infants was the most (35.94%). The rate of delayed language development detected by Gesell, ELMS, PCDI-comprehension, PCDI-expression, ASQ-3 were 5.5%, 7.8%, 36.4%, 30.0% and 11.5%, respectively. 2)ASQ-3 had the strongest correlation with Gesell language region (rs=0.607, P<0.01) and it had the most AUC (AUC=0.812, P<0.05). The consistency between ASQ-3 and Gesell was moderate (Kappa=0.56, P<0.01). ASQ-3 had the highest sensitivity(91.7%), accuracy(93.1%), negative predictive value(99.5%) and Youden index(0.85), and ELMS had the highest specificity(94.6%). 3) Comprehensive evaluation of three tools by the TOPSIS indicated that ASQ-3 was the best, followed by ELMS and PCDI-comprehension was the worse. 【Conclusion】 Among the three assessment tools, ASQ-3 has the highest value in assessing the language development of 11- to 13-month-old high risk infants, and it may be necessary to expand the age range and establish a national norm of ELMS and PCDI in the future.

Abstract Cardiovascular disease is the leading cause of death and disease burden in China and worldwide. The state of cardiovascular health in childhood and adolescence has been shown to be a strong predictor of cardiovascular health in adulthood. The study summarizes current state of cardiovascular health evaluation methods in children and adolescents, including Life s Simple 7, Life s Essential 8, and the aggregation of cardiovascular risk factors; and relevant indicators include diet, physical activity, nicotine exposure, sleep health, body mass index, blood lipids, blood pressure, blood glucose, and the application of evaluation methods, so as to provide insights for the development of cardiovascular health evaluation methods applicable to children and adolescents in China.

With the increasing burden of hypertension in Chinese adults， the detection rate of hypertension among children and adolescents continued to rise， drawing increasing attention to the impact of pubertal timing on blood pressure. In recent years， many scholars have evaluated the association between pubertal development and blood pressure at different stages using various methods of assessing pubertal timing. To understand the correlation between pubertal timing and blood pressure in adolescents， this study reviews the associations between pubertal timing and blood pressure and their underlying mechanisms. The relationship between earlier female pubertal development and the risk of hypertension in adulthood shows positive， negative， and U-shaped correlations， with varying results. Earlier female pubertal development may lead to a higher detection rate of hypertension during adolescence. Most of the studies focus on the correlation between pubertal timing and adult blood pressure， with less research on adolescent blood pressure， indicating a need for further research to reveal underlying patterns.

Objective:To search, evaluate and summarize the best evidence summary of perioperative accelerated rehabilitation nursing for patients undergoing hip and knee arthroplasty, so as to provide reference for clinical perioperative nursing.Methods:Evidence-based nursing methods were used to search for relevant databases such as BMJ Best Practice, UpToDate, PubMed, CINAHL, and CNKI, etc.. The search period was from December 2010 to December 2022. Four researchers independently evaluated the quality of the guidelines, and two researchers independently evaluated the quality of expert consensus and system evaluation. Finally, the included literature was summarized.Results:A total of 12 pieces of literature, 3 guidelines, 5 expert consensus and 4 systematic reviews were included. From 13 aspects of preoperative education, preoperative optimization, anesthesia management, perioperative blood management, perioperative pain management, perioperative fluid management, perioperative temperature protection, infection prevention, thrombus prevention, postoperative nausea and vomiting, postoperative drainage, functional exercise, and perioperative rehabilitation promotion, 35 pieces of the best evidence for hip and knee replacement patients to accelerate rehabilitation nursing in the perioperative period was summarized.Conclusions:This study summarizes the best evidence of accelerated rehabilitation nursing in the perioperative period of hip and knee arthroplasty, aiming to build and standardize the accelerated rehabilitation nursing scheme in the perioperative period of hip and knee arthroplasty, so as to provide reference for clinical perioperative nursing.

Objective:To explore the correlation between clinical phenotypes and genotypes among 46 children with SCN1A-related developmental epileptic encephalopathy (DEE). Methods:Clinical data of 46 children with DEE and SCN1A variants identified at the Guangzhou Women and Children′s Medical Center between January 2018 and June 2022 were collected. The children were grouped based on their age of onset, clinical manifestations, neurodevelopmental status, and results of genetic testing. The correlation between SCN1A genotypes and clinical phenotypes was analyzed. Results:Among the 46 patients, 2 children (4.35%) had developed the symptoms before 3 months of age, 42 (91.30%) were between 3 to 9 months, and 2 cases (4.35%) were after 10 months. Two cases (4.35%) presented with epilepsy of infancy with migrating focal seizures (EIMFS), while 44 (95.7%) had presented with Dravet syndrome (DS), including 28 cases (63.6%) with focal onset (DS-F), 13 cases (29.5%) with myoclonic type (DS-M), 1 case (2.27%) with generalized type (DS-G), and 2 cases (4.55%) with status epilepticus type (DS-SE). Both of the two EIMFS children had severe developmental delay, and among the DS patients, 7 cases had normal development, while the remaining had developmental delay. A total of 44 variants were identified through genetic sequencing, which included 16 missense variants and 28 truncating variants. All EIMFS children had carried the c. 677C>T (p.Thr226Met) missense variant. In the DS group, there was a significant difference in the age of onset between the missense variants group and the truncating variants group ( P < 0.05). Missense variants were more common in D1 (7/15, 46.7%) and pore regions (8/15, 53.3%), while truncating variants were more common in D1 (12/28, 42.9%). Children with variants outside the pore region were more likely to develop myoclonic seizures. Conclusion:The clinical phenotypes of DEE are diverse. There is a difference in the age of onset between individuals with truncating and missense variants in the SCN1A gene. Missense variants outside the pore region are associated with a higher incidence of myoclonic seizures.

Objective:To explore the application of 'hospital WeChat' platform combined with feedback method in improving the quality of life of patients with prostate cancer after operation, to provide suggestions for health education of patients with prostate cancer after operation.Methods:A randomized controlled trial was conducted. A total of 80 male patients who underwent radical prostatectomy in the Third People's Hospital of Yancheng City from June 2022 to July 2023 were selected by convenient sampling method. They were divided into control group and experimental group by random number method, with 40 cases in each group. The control group used routine nursing health education, the experimental group used the 'hospital WeChat' platform combined with feedback method for health education. The severity of urinary incontinence, quality of life, and satisfaction with health education after discharge were compared between the two groups.Results:Forty patients in each group completed the study. The age of the control group was (73.40 ± 4.02) years old, and the age of the experimental group was (73.25 ± 4.02) years old. The urinary incontinence scores of the experimental group at 1 week, 1 month and 3 months after discharge were (14.00 ± 1.41), (11.90 ± 1.34) and (5.13 ± 3.45) points, respectively, which were significantly different from those of the control group (16.10 ± 2.04), (15.00 ± 1.20) and (10.90 ± 3.70) points, the differences were statistically significant ( t=-5.36, -10.93, -7.23, all P<0.05). The total scores of quality of life in the experimental group at 1 and 3 months after discharge were (77.51 ± 6.11) and (79.53 ± 5.42) points, which were significantly higher than (67.70 ± 6.62) and (69.05 ± 6.92) points in the control group, the differences were statistically significant ( t=6.89, 7.62, both P<0.05). The satisfaction scores of health education mode, attitude and evaluation items in the experimental group after discharge were (5.03 ± 0.70), (4.95 ± 0.81) and (5.33 ± 0.86) points, respectively, which were higher than those in the control group (3.93 ± 1.00), (3.65 ± 1.10) and (3.80 ± 0.72) points, the differences were statistically significant ( t=5.72, 6.01, 8.59, all P<0.05). Conclusions:The 'hospital WeChat' platform combined with feedback method can effectively improve the urinary incontinence of patients after prostate cancer surgery, and improve the quality of life and satisfaction of health education for patients. This study is hopeful to provide specific measures for health education for clinical prostate cancer patients.

Objective:To investigate the predictive value of clinical factor model, deep learning model based on baseline plain CT images, and combination of both for predicting hematoma expansion in cerebral hemorrhage.Methods:The study was cross-sectional. Totally 471 cerebral hemorrhage patients who were firstly diagnosed in the Second Affiliated Hospital of Soochow University from January 2017 to December 2021 were collected retrospectively. These patients were randomly divided into a training dataset ( n=330) and a validation dataset ( n=141) at a ratio of 7∶3 by using the random function. All patients underwent two noncontrast CT examinations within 24 h and an increase in hematoma volume of >33% or an absolute increase in hematoma volume of >6 ml was considered hematoma enlargement. According to the presence or absence of hematoma enlargement, all patients were divided into hematoma enlargement group and hematoma non-enlargement group.Two-sample t test, Mann-Whitney U test or χ2 test were used for univariate analysis. The factors with statistically significant differences were included in multivariate logistic regression analysis, and independent influences related to hematoma enlargement were screened out to establish a clinical factor model. ITK-SNAP software was applied to manually label and segment the cerebral hemorrhage lesions on plain CT images to train and build a deep learning model based on ResNet50 architecture. A combination model for predicting hematoma expansion in cerebral hemorrhage was established by combining independent clinical influences with deep learning scores. The value of the clinical factor model, the deep learning model, and the combination model for predicting hematoma expansion in cerebral hemorrhage was evaluated using receiver operating characteristic (ROC) curves and decision curves in the training and validation datasets. Results:Among 471 cerebral hemorrhage patients, 136 cases were in the hematoma enlargement group and 335 cases were in the hematoma non-enlargement group. Regression analyses showed that male ( OR=1.790, 95% CI 1.136-2.819, P=0.012), time of occurrence ( OR=0.812, 95% CI 0.702-0.939, P=0.005), history of oral anticoagulants ( OR=2.157, 95% CI 1.100-4.229, P=0.025), admission Glasgow Coma Scale score ( OR=0.866, 95% CI 0.807-0.929, P<0.001) and red blood cell distribution width ( OR=1.045, 95% CI 1.010-1.081, P=0.011) were the independent factors for predicting hematoma expansion in cerebral hemorrhage. ROC curve analysis showed that in the training dataset, the area under the curve (AUC) of clinical factor model, deep learning model and combination model were 0.688 (95% CI 0.635-0.738), 0.695 (95% CI 0.642-0.744) and 0.747 (95% CI 0.697-0.793) respectively. The AUC of the combination model was better than that of the clinical model ( Z=0.54, P=0.011) and the deep learning model ( Z=2.44, P=0.015). In the validation dataset, the AUC of clinical factor model, deep learning model and combination model were 0.687 (95% CI 0.604-0.763), 0.683 (95% CI 0.599-0.759) and 0.736 (95% CI 0.655-0.806) respectively, with no statistical significance. Decision curves showed that the combination model had the highest net benefit rate and strong clinical practicability. Conclusions:Both the deep learning model and the clinical factor model established in this study have some predictive value for hematoma expansion in cerebral hemorrhage; the combination model established by the two together has the highest predictive value and can be applied to predict hematoma expansion.

Objective:To observe the clinical efficacy of supplementing penetrating acupuncture for swallowing with ice-water balloon dilatation in the treatment of dysphagic patients with cricopharyngeal achalasia after a brainstem stroke.Methods:Forty-five patients with cricopharyngeal achalasia after a brainstem stroke were randomly assigned to a penetrating acupuncture (PA) group, a balloon dilatation (BD) group or a combination group, each of 15. In addition to routine swallowing training, those in the PA and BD groups received penetrating swallowing acupuncture or iced-water balloon dilatation, while the combination group received penetrating swallowing acupuncture 30 minutes after iced-water balloon dilatation. The treatments lasted three weeks beginning right after the recovery of autonomous oral feeding. Before and after the treatment, all of the subjects′ swallowing function was evaluated using video fluoroscopy (VFSS), a functional oral intake scale (FOIS) and a penetration aspiration scale (PAS). Successful removal of the gastric tube, gastric tube retention time and normal opening rate of the cricopharyngeal muscle were also recorded.Results:Significant improvement was observed in the average VFSS, FOIS and PAS results of all three groups after the treatments. The combination group′s average VFSS, FOIS and PAS scores were, however, significantly superior to those of the other two groups, as were successful removal of the gastric tube, gastric tube retention time and the normal opening rate of the cricopharyngeal muscle.Conclusion:Combining penetrating swallowing acupuncture with ice-water balloon dilation can better improve the swallowing function of brainstem stroke survivors with cricopharyngeal achalasia. It improves the cricopharyngeal opening rate and shortens gastric tube indwelling time. This combination of traditional Chinese and Western medicine is therefore worthy of clinical promotion and application.

OBJECTIVE: To explore the genetic basis for a child featuring global developmental disorder with epilepsy. METHODS: A child who had presented at Guangzhou Women and Children's Medical Center in July 2022 was selected as the study subject. Clinical data was collected. Potential variant was detected by whole exome sequencing (WES). Candidate variant was validated by Sanger sequencing and bioinformatic analysis. RESULTS: The child, a three-year-old ethnic Zhuang Chinese girl, had presented with global developmental disorder and epilepsy, for which rehabilitation therapy was ineffective. Genetic testing revealed that she has harbored a homozygous c.821T>C (p.Leu274Pro) missense variant of the PIGW gene, for which both of her parents and sister were heterozygous carriers. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as variant of uncertain significance. CONCLUSION The homozygous c.821T>C (p.Leu274Pro) variant of the PIGW gene probably underlay the onset of disease in this child. Above finding has enriched the mutational spectrum of the PIGW gene.
Child, Preschool ; Female ; Humans ; Computational Biology ; Developmental Disabilities ; Epilepsy/genetics* ; Genetic Testing ; Homozygote

Objective:To investigate the clinicopathologic characteristics, gene mutation profile and prognostic influencing factors of diffuse large B-cell lymphoma (DLBCL) complicated with follicular lymphoma (FL) (DLBCL/FL).Methods:The clinicopathological data of 50 DLBCL/FL patients admitted to Rui Jin Hospital Affiliated of Shanghai Jiao Tong University School of Medicine from February 2018 to November 2021 were retrospectively analyzed. Targeted sequencing was performed to assess the mutation profile of 55 lymphoma-related genes. The clinicopathological characteristics were summarized to evaluate the short-term therapeutic efficacy of all patients. Kaplan-Meier method was used to analyze the overall survival (OS) and progression-free survival (PFS) of patients. Cox regression risk models were used to assess the factors affecting the OS and PFS.Results:Among 50 DLBCL/FL patients, 23 cases (46%) were male, 22 cases (44%) had an international prognosis index (IPI) score ≥ 2 points, 16 cases (32%) were double-expression lymphoma (DEL) and 4 cases (8%) were double-hit lymphoma (DHL). The complete response (CR) and overall response rates were 68% (34/50) and 78% (39/50), respectively after the first-line therapy. The median follow-up time was 23.3 months (5.1-50.9 months). The 2-year OS rate was 82.1% and 2-year PFS rate was 67.1%; and the median OS and PFS were not reached. Targeted sequencing results showed that the mutation frequencies of KMT2D, MYD88, TP53, BTG2, DTX1, EZH2, CD70, CREBBP, DUSP2, HIST1H1C, HIST1H1E and PRDM1 genes in this cohort were more than 15%. Multivariate Cox regression analysis showed that male ( HR = 4.264, 95% CI 1.144-15.896, P = 0.031) and IPI score ≥ 2 points ( HR = 6.800, 95% CI 1.771-37.741, P = 0.007) were independent risk factors of PFS in newly diagnosed DLBCL/FL patients, and TP53 mutation ( HR = 4.992, 95% CI 1.027-24.258, P = 0.046) was an risk influencing factor of OS. Conclusions:The proportion of male and female DLBCL/FL patients is similar, with a small proportion of DHL. Mutations of KMT2D, MYD88 and TP53 genes are commonly found in DLBCL/FL patients. Generally, DLBCL/FL patients can have a high overall response and good prognosis. Male and IPI score ≥ 2 points are the independent risk factors of PFS, and TP53 mutation is an independent risk factor of OS in DLBCL/FL patients.