Background::Carotid intima-media thickness (IMT) and diameter, stiffness, and wave reflections, are independent and important clinical biomarkers and risk predictors for cardiovascular diseases. The purpose of the present study was to establish nationwide reference values of carotid properties for healthy Chinese adults and to explore potential clinical determinants.Methods::A total of 3053 healthy Han Chinese adults (1922 women) aged 18-79 years were enrolled at 28 collaborating tertiary centers throughout China between April 2021 and July 2022. The real-time tracking of common carotid artery walls was achieved by the radio frequency (RF) ultrasound system. The IMT, diameter, compliance coefficient, β stiffness, local pulse wave velocity (PWV), local systolic blood pressure, augmented pressure (AP), and augmentation index (AIx) were then automatically measured and reported. Data were stratified by age groups and sex. The relationships between age and carotid property parameters were analyzed by Jonckheere-Terpstra test and simple linear regressions. The major clinical determinants of carotid properties were identified by Pearson’s correlation, multiple linear regression, and analyses of covariance.Results::All the parameters of carotid properties demonstrated significantly age-related trajectories. Women showed thinner IMT, smaller carotid diameter, larger AP, and AIx than men. The β stiffness and PWV were significantly higher in men than women before forties, but the differences reversed after that. The increase rate of carotid IMT (5.5 μm/year in women and 5.8 μm/year in men) and diameter (0.03 mm/year in both men and women) were similar between men and women. For the stiffness and wave reflections, women showed significantly larger age-related variations than men as demonstrated by steeper regression slopes (all P for age by sex interaction <0.05). The blood pressures, body mass index (BMI), and triglyceride levels were identified as major clinical determinants of carotid properties with adjustment of age and sex. Conclusions::The age- and sex-specific reference values of carotid properties measured by RF ultrasound for healthy Chinese adults were established. The blood pressures, BMI, and triglyceride levels should be considered for clinical application of corresponding reference values.

Objective:To summarize the clinical phenotype and genetic characteristics of deficiency in ELF4 gene X-linked (DEX).Methods:A case series study was conducted to retrospectively analyze the clinical data and genetic testing results of 2 cases of DEX treated at Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and the First Hospital of Jilin University from January 2023 to April 2024. And literature up to April 2024 was searched from the PubMed database, as well as CNKI and Wanfang databases, using keywords such as "ELF4 deficiency" "deficiency in ELF4, X-linked""ELF4 gene". The main clinical manifestations and genotypes of DEX were summarized.Results:Both patients were male, with onset ages of 3 months and 3 years, respectively. Both patients presented with recurrent oral ulcers and abdominal pain. And the laboratory examination showed a significant increase in inflammatory markers. Intestinal examinations showed multiple intestinal ulcers, and both patients developed intestinal fistulas. Whole exome sequencing found ELF4 c.799C>T, p Arg267Trp and ELF4 c. 248-7G>A, both maternal variants. Based on clinical and genetic results, DEX were diagnosed. In terms of treatment, both patients underwent surgical treatment during the acute phase of the disease and received anti-tumor necrosis factor α therapy, but recurrent gastrointestinal symptoms were still observed in Patient 1, while the clinical effect in Patient 2 was still acceptable. However, the inflammatory markers in both patients were not normal even after treatment. Literature review found 18 patients including 2 patients in this study, reported in 5 English articles and no Chinese reports. Thirteen patients had disease onset age before 5. The main clinical manifestations were fever (12/17), oral ulcers (14/18), abdominal pain (8/18), diarrhea (6/18), perianal ulcers (5/17), ileum ulcers (6/16), colon ulcers (7/16), skin involvement (7/17) and recurrent infections (7/18); laboratory examinations found increased erythrocyte sedimentation rate (13/15) as well as C-reactive protein (9/9), and anemia (13/15); in terms of immunological function, there is a decrease in natural killer cells (9/15) as well as a decrease in class switching memory B cells (8/9). The main types of gene variantions were missense variantions (6/18), nonsense variantions (4/18) or frameshift variantions (3/18).Conclusions:DEX should be considered when an early-onset male patient manifested with recurrent fever, oral ulcers or mucosal ulcers, with elevated inflammatory markers, with or without recurrent infection. It is recommended to perform lymphocyte subsets analysis, gastrointestinal endoscopy and genetic testing to support the diagnosis.

Objective:Exploring the dilemmas faced by adolescents with type 1 diabetes mellitus in self-management during the transition to adult healthcare, to inform healthcare professionals in the delivery of transitional care interventions.Methods:Using descriptive qualitative research methods, in-depth interviews were conducted from August to December 2023 to adolescents with type 1 diabetes mellitus (selected by objective sampling) who met the inclusion and exclusion criteria in the Department of Endocrinology of the First Affiliated Hospital of Guangzhou University of Traditional Chinese Medicine and the Shenzhen Children′s Hospital, and the data were analysed inductively using directed content analysis.Results:A total of 12 adolescents with type 1 diabetes mellitus were included for interview, 6 males and 6 females, aged 12-18 years. The self-management dilemmas for adolescents with type 1 diabetes in the transition to adult healthcare can be summarised into 4 themes and 10 sub-themes: disease management dilemmas (weak awareness of disease management, insufficient disease-related knowledge and competence, low adherence to disease management, and restriction of daily activities), role adaptation difficulties (lack of perceived transition to the healthcare role, difficulty in transitioning to the family role, and maladaptation to the social role), negative emotions Inadequate social support system (lack of school support, limited accessibility of social organisations, insufficient socio-economic support).Conclusions:Adolescents with type 1 diabetes mellitus face multiple dilemmas in disease self-management during the transition to adult healthcare, and healthcare professionals should pay attention to transition self-management education, improve patients′ awareness of transition self-management and their ability to participate in it, formulate a transition preparation plan, build an emotional support network, and improve the social security system, so as to help juvenile patients with type 1 diabetes master the method of self-management and make a successful transition to adulthood.

Objective:To investigate the effectiveness and feasibility of whole exome sequencing (WES), as a molecular diagnosis technique, for adult patients with genetic diseases.Methods:The present retrospective analysis included 445 adult patients (ages 18-80 years) with suspected genetic diseases who underwent whole exome sequencing (WES) from August 2021 to December 2022. The pathogenicity classification of each variant was assessed in accordance with the recommendations developed by the American Society of Medical Genetics and Genomics.Results:The overall positive rate of WES among adult patients with suspected genetic diseases was 28.08% (125/445). The highest positive rate was observed in the age group of 41-50 years (34.33%, 23/67). Among the diagnosed genetic diseases, those affecting the cardiovascular system (63.16%, 84/133), nervous system (18.05%, 24/133), and endocrine system (13.53%, 18/133) ranked as the top three. The most common genetic diseases identified through WES in adult patients were hypertrophic cardiomyopathy (18.80%, 25/133), dilated cardiomyopathy (16.54%, 22/133), Marfan syndrome (15.04%, 20/133), epilepsy (9.02%, 12/133), and familial hypercholesterolemia (4.51%, 6/133). The main causative genes identified included FBN1 (14.29%, 19/133), MYBPC3 (9.02%, 12/133), MYH7 (9.02%, 12/133), LDLR (3.76%, 5/133), TTN (3.76%, 5/133), and TNNI3 (3.01%, 4/133).Conclusion:Applying the WES technique in clinical practice can improve the diagnostic rate of adult genetic diseases, especially in adult patients with suspected genetic conditions involving the cardiovascular system, nervous system, and endocrine system.

Outpatient humanistic care refered to providing a full process of caring medical services to outpatients. In order to standardize the human caring services for outpatients in medical institutions, promote the comprehensive service level of outpatient services, and improve the patient′s medical experience, Chinese Association for Life Care issued the group standard of Management Norms for Human caring of Outpatients in April 2023. This standard clarified the relevant terms and definitions of human caring for outpatients, specified the basic requirements for human caring, the humanistic quality and care responsibilities of outpatient staff, the outpatient care environment and facilities, the outpatient care process and measures, and quality management. It designed standardized and personalized full process care service norms, providing references for medical institutions at all levels to promote the development of human caring for outpatients.

BACKGROUND: Repair of long-distance peripheral nerve defects remains an important clinical problem. Nerve grafts incorporated with extracellular vesicles (EVs) from various cell types have been developed to bridge peripheral nerve defects. In our previous research, EVs obtained from skin-derived precursor Schwann cells (SKP-SC-EVs) were demonstrated to promote neurite outgrowth in cultured cells and facilitate nerve regeneration in animal studies. METHODS: To further assess the functions of SKP-SC-EVs in nerve repair, we incorporated SKP-SC-EVs and Matrigel into chitosan nerve conduits (EV-NG) for repairing a 15-mm long-distance sciatic nerve defect in a rat model. Behavioral analysis, electrophysiological recording, histological investigation, molecular analysis, and morphometric assessment were carried out. RESULTS: The results revealed EV-NG significantly improved motor and sensory function recovery compared with nerve conduits (NG) without EVs incorporation. The outgrowth and myelination of regenerated axons were improved, while the atrophy of target muscles induced by denervation was alleviated after EVs addition. CONCLUSION Our data indicated SKP-SC-EVs incorporation into nerve grafts represents a promising method for extended peripheral nerve damage repair.

Objective:To investigate the factors affecting the accuracy of electronic portal imaging device (EPID)-based in vivo dose verification in radiotherapy for patients with lung and esophageal cancers, and to recommend the workflow and specifications for the application of the in vivo dose verification. Methods:This study randomly selected 32 patients who received radiotherapy for esophageal and lung cancers at the Department of Radiation Oncology, Jinhua Municipal Central Hospital from May to August 2022, including 14 lung cancer cases and 18 esophageal cancer cases. Using a uRT-linac 506c linear accelerator, these patients were treated according to the dynamic intensity-modulated radiotherapy (dIMRT) and EPID-based In vivo dose verification ( In vivo EPID) plans developed with the uRT-TPOIS planning system. The In vivo dose verification performed during the treatment included 238 fractions of In vivo EPID and 80 fractions of image-guided radiotherapy (IGRT) for the lung cancer cases, as well as 414 fractions of In vivo EPID and 105 fractions of IGRT for the esophageal cancer cases. The 2D γ passing rate for each irradiation field was obtained according to the set threshold value. Furthermore, fractioned irradiation fields with γ-passing rates below the threshold value were analyzed, and primary factors decreasing the γ-passing rate were further analyzed by combining the online CT images and 3D reconstruction-derived dose. Results:For lung and esophageal cancers, the mean γ-passing rates were 95.1% ± 5.7% and 96.5% ± 4.5%, respectively at 3 mm/5%; 91.5% ± 8.4% and 92.2% ± 4.9%, respectively at 3 mm/3%, and 79.1% ± 14.7% and 83.7% ± 8.2%, respectively at 2 mm/2%, indicating no statistically significant differences between two cancers ( P > 0.05). The average γ passing rate for beam orientations near 0°/180° (Group A) was higher than those near 90°/270° (Group B) 3 mm/5%: Z = -25.4, P < 0.05; 3 mm/3%: Z = -26.8, P < 0.05). The IGRT correction of setup errors significantly improved the γ passing rates (96.3% ± 5.1% and 96.4% ± 4.9%, respectively at 3 mm/5%, Z = -5.50, P < 0.05; 92.3% ± 8.0% and 91.3% ± 7.7%, respectively at 3 mm/3%, Z = -9.54, P < 0.05). The results of In vivo dose verification were affected by changes in the volumes and motion of tumors and normal tissues, radiotherapy positioning, and adequacy of pre-treatment preparation. Conclusions:EPID-based In vivo dose verification during radiotherapy can avoid incorrect irradiation. However, it is necessary to standardize the workflow of the EPID-based In vivo dose verification to avoid the decrease in the γ passing rate caused by artificial factors.

Objective:To compare the differences in exploratory behaviors between infants with high-risk autism spectrum disorder (HR-ASD) and normal development (TD) infants, and to explore the relationship between exploratory behaviors and the severity of ASD symptoms.Methods:A total of 31 infants aged 6-23 months with HR-ASD in the Pediatric Clinic, the Affiliated Brain Hospital of Nanjing Medical University from January 2019 to August 2020 were retrospectively recruited in the HR-ASD group, and 37 TD infants aged from 6 to 23 months in Nanjing were selected as the TD group.The development level of the 2 groups was evaluated by Gesell development scale, and the depth and breadth of exploratory behaviors were measured in free play.Autism Diagnostic Observation Schedule (ADOS) was used to evaluate the severity of ASD symptoms in HR-ASD group.Differences in exploratory behaviors between the 2 groups were analyzed by the independent sample t-test and Chi- square test. Pearson′ s correlation analysis was performed to explore the correlation between exploratory behaviors and symptom severity in HR-ASD group.Binary Logistic regression analysis was used to explore the discrimination efficiency of sexual behavior in the 2 groups. Results:Compared with TD group, the depth and breadth of exploratory behaviors in HR-ASD group were significantly lower (55.06±25.73 vs.132.78±44.69, 4.42±2.20 vs.8.78±3.28)( t=-8.95, -6.53, all P<0.01), and atypical exploratory behavior and avoidance withdrawal behavior were significantly worse [18 cases(58.06%) vs.6 cases(16.22%), 10 cases(32.26%) vs.3 cases(8.11%)]( χ2=15.30, 6.36, all P<0.05). Significant differences in the frequency and duration of object exploration, environmental exploration and social exploration were detected between HR-ASD group and TD group (3 vs. 0 vs. 0, 45 vs. 0 vs. 0)(all P<0.01). Pearson correlation analysis showed that, the frequency of object exploratory behavior was positively correlated with the dimension of ADOS in HR-AD group ( r=0.40, P<0.05); while the duration of object exploratory behavior, the complexity of object explo-ratory behavior and the depth of exploratory behavior were negatively correlated with CARS score ( r=-0.45, -0.47, -0.42, all P<0.05). The depth of exploratory behavior was negatively correlated with the stereotyped dimension of ADOS ( r=-0.40, P<0.05). Binary Logistic regression analysis showed that the depth of exploratory behavior had a discrimination effect ( P<0.01). Conclusions:The characteristics of exploratory behaviors in HR-ASD infants are abnormal, especially the distinguishing effect on the depth of exploratory behaviors, which can be used as a candidate behavioral index for early screening of ASD.

Respiratory diseases are a group of different conditions affecting the airways, including acute lung injury, asthma, chronic obstructive pulmonary disorder, and idiopathic pulmonary fibrosis. Recent studies have demonstrated the extracellular vesicles (EVs) produced and secreted by autologous cells are able to induce inflammatory responses and immune activation in respiratory diseases. Exosomes, a type of EVs (30-150 nm) containing nuclear acids, proteins, lipids, and metabolites, can transfer bioactive cargo and have potential implications for disease pathogenesis. Although the biological functions of exosomes in cancer and cardiovascular diseases have been widely addressed, their pathophysiological mechanisms in respiratory disorders are still not completely understood. In this review, we first presented current methodologies in use for exosomes isolation and characterization from biological fluids, such as bronchoalveolar lavage fluid, nasal lavage fluid, exhaled breath condensate, sputum supernatant, and blood. And then, we critically discussed the crucial role of exosomes in respiratory diseases, not only focusing on their involvement in the development of airway diseases, but also on their diagnostic and therapeutic potential. A better understanding of these mechanisms will provide opportunities for research on respiratory diseases induced by environmental and occupational exposure to particulate matter in which exosomes contribute to the disease development.

Objective:To observe the application effect of skillful communication combined with pathway pain management on patients with hemorrhoids undergoing endoscopic sclerotherapy.Methods:Using the convenient sampling method, a total of 85 patients who received endoscopic sclerotherapy of internal hemorrhoids in the People's Hospital of Anyang City from September 2020 to August 2021 were selected as the research objects. They were divided into the intervention group (44 cases) and the control group (41 cases) . The control group was given routine nursing intervention, while the observation group was given skillful communication combined with pathway pain management on the basis of the control group. The pain level (VAS) before and 12, 24, 48, and 72 hours after the operation, as well as the negative emotions [anxiety (SAS) , depression (SDS) ], resilience (CD-RISC) and quality of life (WHOQOL-BREF) score of patients before and after the intervention were compared between the two groups.Results:Compared with before operation, the VAS scores of the intervention group at 12, 24, 48 and 72 h after operation were lower, and the VAS scores of the intervention group at each time point after operation were lower than those of the control group, and the differences were statistically significant ( P<0.05) . After the intervention, SAS and SDS scores of patients of the two groups were lower than those before the intervention, and SAS and SDS scores of the intervention group after the intervention were lower than those of the control group, and the differences were statistically significant ( P<0.05) . The scores of each dimension of CD-RISC after intervention in the two groups were higher than those before intervention, and the scores of each dimension of CD-RISC in the intervention group after intervention were higher than those in the control group, and the differences were statistically significant ( P<0.05) . The scores of each dimension of WHOQOL-BREF in the two groups after intervention were higher than those before intervention, and the scores of each dimension of WHOQOL-BREF in the intervention group after intervention were higher than those in the control group, and the differences were statistically significant ( P<0.05) . Conclusions:Skillful communication combined with pathway pain management can reduce the pain level of patients undergoing endoscopic sclerotherapy of internal hemorrhoids, relieve the negative emotions of patients and improve their psychological resilience and quality of life, which is worthy of clinical promotion.