Objective To explore the correlation of nerve function and prognosis with serum uric acid(UA),homocysteine(Hcy)and low-density lipoprotein cholesterol(LDL-C)in patients with acute cerebral infarction(ACI)after alteplase intravenous thrombolysis.Methods A total of 220 ACI patients undergoing thrombolysis in Changsha First Hospital ICU between January 2020 and December 2022 were enrolled,and according to mRS score at 3 months after thrombolysis,they were divided into poor prognosis group(mRS score＞2,91 cases)and good prognosis group(mRS score ≤2,129 cases).The serum levels of UA,Hcy and LDL-C were compared between the two groups.The correlation between the three indexes and score of National Institutes of Health Stroke Scale(NIHSS),and their predictive value for poor prognosis were analyzed.Results At 1 and 3 d after thrombolysis,the serum levels of UA,Hcy and LDL-C and NIHSS score were sig-nificantly decreased in both groups,and the serum levels of UA and Hcy and NIHSS score at 3 d after thrombolysis were significantly lower than those at 1 d(P＜0.05).The poor prognosis group had obviously higher serum levels of UA,Hcy and LDL-C and NIHSS score at 1 and 3 d after thrombolysis than the good prognosis group(P＜0.05,P＜0.01).Pearson correlation analysis showed that the serum levels of UA,Hcy and LDL-C were positively correlated with NIHSS score at 1 and 3 d after thrombolysis(P＜0.01).ROC curve analysis indicated that the AUC values of UA,Hcy and LDL-C at 1 d after thrombolysis for predicting poor prognosis were 0.707(95％CI:0.639-0.776),0.800(95％CI:0.739-0.860)and 0.624(95％CI:0.550-0.698),respectively,while the values of them at 3 d after thrombolysis were 0.655(95％CI:0.583-0.726),0.730(95％CI:0.664-0.795)and 0.573(95％CI:0.497-0.649),respectively.Conclusion In ACI patients after thrombolysis,the serum levels of UA,Hcy and LDL-C are increased in those with poor prognosis,and are associated with the severity of nerve injury.The levels at 1 d after throm-bolysis have good predictive value for poor prognosis.

Objective To design a multifunctional sputum suction device and verify its effectiveness.Methods A total of 50 patients using the multifunctional sputum suction device in a tertiary A hospital in Guangzhou from July to December 2022 were selected as the test group,from January to June 2022,while 49 patients using the traditional sputum suction device were taken as the control group.We compared the first suction preparation time,perfect rate of goods preparation,satisfaction of medical staff between the 2 groups.Results Compared with the control group,the time of preparation for the first sputum suction in the test group was shorter(t=-120.113,P＜0.001),and the times of preparation in the test group were more than these in the control group(x2=8.002,P=0.005).The satisfaction degree of nursing staff to the tidiness,practicability,convenience and timeliness of the sputum suction device was higher than that of the control group,and the difference was statistically significant(Z=-6.825,Z=-5.172,Z=-6.806,Z=-7.215,all P＜0.001).Conclusion The multifunctional sputum suction device can reduce the time spent in preparing the items before suction,improve the rate of item preparation and the satisfaction of nursing staff.

Objective:To enhance understanding of mental retardation autosomal dominant 35 (MRD35) by analyzing the clinical and genetic characteristics of the disease.Methods:Clinical and genetic data of 1 case of MRD35 in Beijing Children′s Hospital in July 2018 were reported, and literature review was conducted.Results:The male proband, 1 year and 3 months old, was admitted with the clinical manifestations including mental retardation, low-grade fever, a large forehead, flat nose, open mouth, and hypomyotonia. The brain magnetic resonance imaging showed enlarged lateral ventricles, cavum septum, cavum verge and cavum velum interpositum cyst. The whole exome sequencing test showed that the proband carried a missense mutation c.1258 G>A, (p.E420K) in the PPP2R5D gene, and the mutation was de novo confirmed by Sanger sequencing. There were ten literatures reported, including a total number of 31 cases. Counting on this case, totally 32 cases were included. Among the 32 patients, 32 cases (100.0%) had mental retardation, 26 cases (81.3%) with motor retardation, 26 cases (81.3%) with macrocephaly, 8 cases (25.0%) with epilepsy. Facial dysmorphic features, ocular abnormalities, skeletal abnormalities, and cardiac malformations were also reported. All reported individuals had missense mutations of PPP2R5D gene and were autosomal dominantly inherited. Conclusions:The main clinical manifestations of MRD35 include growth retardation/mental retardation, severe speech impairment, macrocephaly, hypomyotonia, seizures and dysmorphic facial features. A novel missense mutation in the PPP2R5D gene is the cause of MRD35.

Objective:To understand the ethical misconduct of Chinese medical researchers and its influencing factors, so as to provide a reference for regulating such misconduct in clinical research.Methods:From September to November 2021, a stratified random sampling method was adopted to select medical researchers from the China Clinical Trial Registration Platform as interview objects, and semi-structured interviews were made on ethical misconduct and its influencing factors in clinical trials. The interview data were analyzed using NVivo11 software.Results:A total of 28 interviewees were included, 57%( n=16) of whom holding that medical researchers accept research ethics passively in most cases. The influencing factors of ethical misconduct of medical researchers are summarized into 7 secondary nodes and 43 tertiary nodes, including 248 reference points. The environmental factors included poor ethical supervision, great research pressure information asymmetry between subjects and researchers, and insufficient ethical atmosphere, including 54, 40, 38, and 29 reference points respectively. The self-factors included lack of ethical knowledge, weak ethical awareness, and individual characteristics of researchers, including 48, 21 and 18 reference points respectively. Conclusions:The attitude and behavior of clinical research ethics of Chinese medical researchers are generally in the transitional stage from passive acceptance to positive compliance, and there are many factors influencing ethical misconduct. In order to further standardize the ethical behavior of medical researchers, the authors suggest relevant authorities to improve ethical review and supervision, establish systematic ethical training, improve the scientific research environment, and actively carry out clinical trials and science popularization.

OBJECTIVE: To identify the pathogenesis in two patients of restrictive cardiomyopathy (RCM) using high-throughput sequencing. METHODS: Peripheral blood samples from the two patients and their parents were collected and genomic DNAs were extracted to conduct targeted next generation sequencing or whole exome sequencing. Bioinformation analysis was performed to identify the pathogenic variants in genes associated with cardiomyopathy, which were further validated by Sanger sequencing. RESULTS: By high throughput sequencing, we detected a de novo heterozygous variant c.549+1G>T in TNNI3 gene in patient 1. The variant has not been reported previously and was predicted to be pathogenic in line with American College of Medical Genetics and Genomics (ACMG) guidelines (PVS1+PS2+PM2). Another heterozygous variant c.433C>T (p.Arg145Trp) in TNNI3 gene was identified in patient 2 and his father. The variant had been reported as pathogenic variant in Clinvar and HGMD databases; based on ACMG guidelines, the variant was predicted to be likely pathogenic (PS3+PM1+PP3). CONCLUSION TNNI3 variants may be the causative gene responsible for restrictive cardiomyopathy in the two patients. High throughput sequencing results provide bases for the diagnosis of restrictive cardiomyopathy.
Cardiomyopathy, Restrictive/genetics* ; Child ; Genomics ; Heterozygote ; Humans ; Mutation ; Whole Exome Sequencing

Objective:Given the indispensable role played by medical ethics committees in protecting the rights and interests of subjects and researchers, such committees in China are found with weak organizational capacity. This study was designed to analyze the driving factors to improve their organizational capacity.Methods:Form July to September 2020, a survey and interview of 71 tertiary A hospitals in eastern China were conducd, and a total 60 valid samples were obtained. Through crisp-se qualitative comparative analysis(csQCA), the medical ethics committees of 60 tertiary hospitals were analyzed, and the factors affecting the organizational capabilities of the medical ethics committees and their combinations were explored.Results:Protection of rights and interests was key to medical ethics committee′s organizational capacity, while incompetency of the members and the irregular review process were sufficient reasons for the weak organizational capacity. There were six combinations of sufficient conditions for the medical ethics committee to be strong in organizational capacities, which could be explained by the three models of member capacity-orientation, system-process-orientation, and resource-system-orientation.Conclusions:The medical ethics committees are recommended to enhance members capacity, enhance team building; complete rules and regulations, and process mechanism; clarify organization structure, and optimize resource matching, in an effort to enhance the organizational capacity of these committees in China.

Hospice care is a health care involving end-of-life quality of millions of people. Compared with the growing demand for hospice services, the domestic service supply is seriously insufficient, making it urgent to explore the development path to meet the diversified health service needs of the public. Based on the analysis of the current situation of hospice development in the mainland and Taiwan of China, the " five-in-one" hospice development path consisting of top-level design, legislative protection, personnel training, social support, and publicity and education was proposed, which was expected to provide a basis for promoting the development of hospice practice in Chinese mainland. The aim is to provide a reference for promoting the development of hospice practice in Chinese mainland.

Objective:To analyze the long-term prognosis and prognostic factors of allergic bronchopulmonary aspergillosis(ABPA) in children suffering from cystic fibrosis (CF).Methods:An observational study was performed.All children who were admitted to the Department of Respiratory, Beijing Children′s Hospital, Capital Medical University from August 2014 to June 2018, with more than 2 years of followed up for the diagnosis of CF accompanied by ABPA were involved.Results:Three children met the inclusion criteria, with 2 boys and 1 girl, and their diagnostic age were 14, 8 and 9 years old, respectively.The follow-up duration ranged from 2 to 6 years.All the 3 cases were treated with systemic corticosteroids and antifungal agent.In case 1, the initial dose of prednisone was 0.75 mg/(kg·d), and the course of treatment was more than 5 years.The corticosteroid-dependent patient suffered from expectoration and chest pain, and radiographic findings indicated exacerbation, while his lung function was normal.Treating with initial dose of prednisone 2 mg/(kg·d) for 9 months, case 2 had normal serum immunoglobulin E(IgE) concentration, but his pulmonary artery was infiltrated by lesions, thus leasing to lobectomy.In case 3, the initial dose of prednisone was 0.6 mg/(kg·d), and the course of treatment was 18 months.And she developed persistent hypoxemia, and decreased pulmonary function, so lung transplantation was necessary 2 years after diagnosis.Conclusions:Systemic glucocorticoid combined with antifungal therapy is the main treatment for CF with ABPA, but there are individual differences in the efficacy.The level of serum total IgE is not always consistent with lung function and chest images.The overall prognosis is poor, and it is infeasible to evaluate the prognosis by single factor.

Deciphering the metabolites of multiple components in herbal medicine has far-reaching significance for revealing pharmacodynamic ingredients.However,most chemical components of herbal medicine are secondary metabolites with low content whose in vivo metabolites are close to trace amounts,making it difficult to achieve comprehensive detection and identification.In this paper,an efficient strategy was proposed:herb-derived metabolites were predicted according to the structural characteristics and metabolic reactions of chemical constituents in Corydalis Rhizoma and chemical structure screening tables for metabolites were conducted.The fragmentation patterns were summarized from represen-tative standards combining with specific cleavage behaviors to deduce structures of metabolites.Ion abundance plays an important role in compound identification,and high ion abundance can improve identification accuracy.The types of metabolites in different biological samples were very similar,but their ion abundance might be different.Therefore,for trace metabolites in biological samples,we used the following two methods to process:metabolites of high dose herbal extract were analyzed to char-acterize those of clinical dose herbal extracts in the same biological samples;cross-mapping of different biological samples was applied to identify trace metabolites based on the fact that a metabolite has different ion abundance in different biological samples.Compared with not using this strategy,44 more metabolites of clinical dose herbal extract were detected.This study improved the depth,breadth,and accuracy of current methods for herb-derived metabolites characterization.

Objective: To investigate the manufacturing procedures of personalized miniscrew-assisted rapid palatal expanders (pMARPE) using digital technologies and to evaluate the effect of the expanders when expanding the midpalatal suture of an adult. Methods: Digital technologies were used to make pMARPE, which was used to treat a 21-year-old woman with maxillary transverse deficiency (MTD). The relevant literature on MARPE was reviewed. Results: PMARPE could be manufactured using intraoral digital scanning, computer-aided design and computer-aided manufacturing(CAD/CAM ), and 3D printing technologies. After expansion, the width of the anterior midpalatal suture, posterior midpalatal suture and maxillary skeletal width increased by 3.9 mm, 3.2 mm and 4.7 mm, respectively. There was no significant change in the inclination of maxillary first molars, and the height of alveolar ridge decreased slightly. It could be seen that using digital technologies to manufacture personalized expanders was possible for MARPE , and the initial stability of miniscrews played an important role in the expansion success rate, the increase of molar inclination is composed of many parts, and the decrease of alveolar ridge height may be overestimated due to the measurement method, as shown by a literature review. Conclusion The midpalatal suture of an adult patient with MTD could be expanded by pMARPE. However, the effect of this expander on the inclination of the first molar and alveolar bone height needs to be further studied with a larger sample size.