Dent disease is a rare X-linked recessive renal tubular disease characterized by low molecular weight proteinuria，hypercalcemia and nephrocalcinosis. It is also a major cause of tubular proteinuria in children. According to different causative genes，Dent disease can be divided into three types：type 1 is caused by mutations in the CLCN5 gene，accounting for about 60%-70%；type 2 is caused by mutations in the OCRL gene，accounting for about 15%-20%；type 3 has a similar clinical phenotype but no known pathogenic gene mutations. CLCN5 encodes the voltage-dependent 2Cl -/1H +exchange channel CIC-5，which is involved in proximal renal tubule endocytosis. Its mutations can cause a variety of proximal tubular dysfunction symptoms，mainly including low molecular weight proteinuria. The use of gene detection technology has resulted in an increase in reports on Dent disease year after year. At present，the specific mechanism underlying Dent disease remains unknown. This article reviews the research progress of CLCN5，hoping to provide new insight for the mechanism research of CLCN5 and the specific treatment of Dent disease type 1.

As a supplement to randomized controlled trials， observational studies can provide evidence for the effectiveness of traditional Chinese medicine （TCM） treatment measures. They can also study influencing factors of diseases， etiology， and prognosis. However， there is a confounding effect due to the lack of randomization， which seriously affects the causal inference between the study factors and the outcome， resulting in confounding bias. Therefore， identifying and controlling confounding factors are key issues to be addressed in TCM observational studies. According to the causal network and the characteristics of TCM theory， confounding factors can be categorized into measured and unmeasured confounding factors. In addition， attention must be paid to identifying confounding factors and intermediate variables， as well as the interaction between confounding factors and study factors. For methods of controlling confounding factors， measured confounding factors can be controlled by stratification， multifactor analysis， propensity scores， and disease risk scores. Unmeasured and unknown confounding factors can be corrected using instrumental variable methods， difference-in-difference methods， and correction for underlying event rate ratios. Correcting and controlling confounding factors can ensure a balance between groups， and confounding bias can be reduced. In addition， methods such as sensitivity analysis and determination of interactions make the control of confounding factors more comprehensive. Due to the unique characteristics of TCM， observational studies of TCM face unique challenges in identifying and controlling confounding factors， including the ever-changing TCM treatment measures received by patients， the often-overlooked confounding effects in the four diagnostic information of TCM， and the lack of objective criteria for TCM evidence-based diagnosis. Some scholars have already conducted innovative explorations to address these issues， providing a methodological basis for conducting higher-quality TCM observational studies， so as to obtain more rigorous real-world evidence of TCM and gradually develop quality evaluation criteria for OS that are consistent with the characteristics of TCM.

Objective:To explore the barriers and facilitators of exercise rehabilitation in patients with atrial fibrillation (AF) after radiofrequency ablation.Methods:From March to August 2022, 285 patients with atrial fibrillation who underwent radiofrequency ablation within three months were recruited from the "Cloud Ward" of the Department of Cardiovascular of the First Affiliated Hospital with Nanjing Medical University by convenience sampling. The Cardiac Rehabilitation Barriers Scale (CRBS) and the Self-efficacy for Exercise Scale (SEE) were used to evaluate the barriers and self-efficacy of patients participating in exercise rehabilitation, respectively. Among them, 22 patients were subjected to semi-structured interviews to extract themes.Results:Among 285 patients with atrial fibrillation, 202 (70.88%) participated in exercise rehabilitation programs. Work/time conflicts, lack of cardiac rehabilitation knowledge, and health/physical function limitations affected the participation of patients in exercise rehabilitation ( P<0.05). Qualitative research extracted three themes that affected the patient's exercise rehabilitation, including capability, opportunity, and motivation. Conclusions:The participation of atrial fibrillation patients in exercise rehabilitation is influenced by multiple factors such as family responsibility, capability, motivation, and opportunity. Medical and nursing staff should comprehensively consider the above factors, develop targeted interventions from all aspects and multiple angles, so as to effectively improve the participation of patients in exercise rehabilitation.

With the continuous progress of research methodology in the real world and the growing maturity of artificial intelligence technology， a method for conducting “quantitative” research to guide clinical practice based on traditional Chinese medicine （TCM） diagnosis and treatment data was gradually developed. However， there is still a need for further improvements in the overall design of studies and the transformation of findings into clinical practice. Based on this， we put forward a comprehensive overall design concept and application approach for real-world study and artificial intelligence research based on clinical diagnosis and treatment data of TCM. This approach consists of five steps： Constructing a research-based database with a large sample size and high data quality； Mining and classification of core prescriptions； Conducting cohort studies to evaluate the effectiveness of core prescriptions； Utilizing case-control studies to clarify the dominant population； Establishing predictive models to achieve precision medicine. Additionally， it is imperative for researchers to establish a standardized system for collecting TCM variables and processing data， optimize the determination and measurement methods of confounding factors， further improve and promote methodologies， and strengthen the training of interdisciplinary talents. By following this research method， we anticipate that the clinical translation of research findings will be facilitated， leading to advancements in TCM precision medicine. Real-world study and artificial intelligence research share similar research foundations， and clinical applications complement each other. In the future， the two will merge together.

Objective:To implement scoping review of the quality evaluation tool for mobile medical applications (mHealth APP) based on the perspective of health promotion, so as to provide reference for the development or introduction of tools suitable for China and provide inspiration for conducting high quality mHealth APP electronic health intervention research.Methods:Following the method of scoping review, mHealth APP quality evaluation tool development and validation articles published from January 2008 to February 2022 were systematically searched in Cochrane Library, PubMed, EMbase, Institute for Scientific Information (ISI) Web of Science, SCOPUS, CINAHL, PsyINFO, China National Knowledge Infrastructure, VIP, WanFang Data and China Biomedical Literature Database. This study extracted the basic information of the tool and used topic analysis to summarize and integrate the content of the tool items.Results:A total of 27 studies were included, involving 14 mHealth APP quality evaluation tools. The theme analysis process of evaluating the content of items generated a total of 300 primary codes, which were classified into four themes, including software attributes, medical science, behavioral science, and user experience.Conclusions:As a cross disciplinary product, the mHealth app faces multiple challenges in terms of quality. At present, the focus of existing quality evaluation tools varies, among which scientific evaluation originates from the special positioning of mHealth APP and needs to be taken seriously. Different evaluation perspectives may be potential factors that affect the quality evaluation results, and as a key link, users' needs need to be further focused and explored.

Objective:To evaluate the prognostic value of pretreatment systemic immune-inflammation index (SII) and lactate dehydrogenase (LDH) in non-metastatic nasopharyngeal carcinoma (NPC).Methods:We retrospectively collected the data of 839 patients with non-metastatic NPC from National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital and Sun Yat-sen University Cancer Center between January 2007 and October 2015. All patients received intensity modulated radiation based treatment. Optimal cutoff value of SII and LDH were determined by X-title software. The association between SII, LDH and clinical prognosis of non-metastatic NPC patients were analyzed. Kaplan-Meier method was used for survival analysis, and Log rank test was used for comparison of survival rates between groups. Propensity score matching (PSM) analysis was carried out to minimize the effects of confounding factors. The risk stratification model of prognosis by combining N stage, SII and LDH was constructed to compare the prognosis of patients in high risk group, middle risk group and low risk group, and the receiver operating characteristic (ROC) curve analysis was used to evaluate its prognostic value.Results:The optimal cutoff value of SII is 447.2×10 9/L for predicting the 5-year overall survival (OS) of NPC patients, and the best cutoff value of LDH is 198.9 U/L. The proportion of patients with stage T3-4 and stage III-IVB in high SII group was higher than that in low SII group ( P<0.001). Multivariate Cox regression analysis showed that N stage, SII and LDH were independent factors of OS, progression-free survival (PFS) and distant metastasis-free survival (DMFS) of NPC patients (N stage, HR=1.705, 95% CI: 1.247-2.332; HR=1.755, 95% CI: 1.342-2.295; HR=2.161, 95% CI: 1.515-3.082. SII, HR=1.525, 95% CI: 1.097-2.119; HR=1.518, 95% CI: 1.150-2.004; HR=1.837, 95% CI: 1.272-2.653. LDH, HR=2.041, 95% CI: 1.403-2.968; HR=1.725, 95% CI: 1.233-2.414; HR=2.492, 95% CI: 1.690-3.672, respectively). After PSM, SII was still an independent prognostic factor of OS, PFS and DMFS in NPC patients ( HR=1.52, 95% CI: 1.09-2.12; HR=1.52, 95% CI: 1.15-2.00; HR=1.82, 95% CI: 1.26-2.63, respectively). Combined with N 2-3 stage, SII (>447.2×10 9/L), and LDH (>198.9 U/L), patients were divided into high-(3 risk factors), intermediate- (2 risk factors) and low-risk (0-1 risk factors) groups. The 5-year OS rates of patients in low-, intermediate- and high-risk groups were 86.1%, 79.8% and 41.2% respectively, the 5-year PFS rates were 80.7%, 70.2% and 33.9% respectively, and the 5-year DMFS rates were 88.9%, 79.2% and 47.5% respectively. There were significant differences in OS, PFS and DMFS among these three groups ( P<0.001). Distant metastasis was the main failure pattern in low-, intermediate- and high-risk groups, and the highest rate of distant metastasis was 83.3% (15/31) in high-risk group. ROC curve of the risk stratification model for predicting 5-year OS of NPC patients is 0.610, which is higher than TNM stage (0.609), SII (0.574) and LDH (0.558). Conclusions:Pretreatment SII and LDH are significantly correlated with the prognosis of patients with non-metastatic NPC. The combination of SII, LDH and N stage can stratify the prognostic risk of NPC patients. The risk stratification model can enhance the accuracy of prognosis.

Objective:To evaluate the prognostic value of pretreatment systemic immune-inflammation index (SII) and lactate dehydrogenase (LDH) in non-metastatic nasopharyngeal carcinoma (NPC).Methods:We retrospectively collected the data of 839 patients with non-metastatic NPC from National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital and Sun Yat-sen University Cancer Center between January 2007 and October 2015. All patients received intensity modulated radiation based treatment. Optimal cutoff value of SII and LDH were determined by X-title software. The association between SII, LDH and clinical prognosis of non-metastatic NPC patients were analyzed. Kaplan-Meier method was used for survival analysis, and Log rank test was used for comparison of survival rates between groups. Propensity score matching (PSM) analysis was carried out to minimize the effects of confounding factors. The risk stratification model of prognosis by combining N stage, SII and LDH was constructed to compare the prognosis of patients in high risk group, middle risk group and low risk group, and the receiver operating characteristic (ROC) curve analysis was used to evaluate its prognostic value.Results:The optimal cutoff value of SII is 447.2×10 9/L for predicting the 5-year overall survival (OS) of NPC patients, and the best cutoff value of LDH is 198.9 U/L. The proportion of patients with stage T3-4 and stage III-IVB in high SII group was higher than that in low SII group ( P<0.001). Multivariate Cox regression analysis showed that N stage, SII and LDH were independent factors of OS, progression-free survival (PFS) and distant metastasis-free survival (DMFS) of NPC patients (N stage, HR=1.705, 95% CI: 1.247-2.332; HR=1.755, 95% CI: 1.342-2.295; HR=2.161, 95% CI: 1.515-3.082. SII, HR=1.525, 95% CI: 1.097-2.119; HR=1.518, 95% CI: 1.150-2.004; HR=1.837, 95% CI: 1.272-2.653. LDH, HR=2.041, 95% CI: 1.403-2.968; HR=1.725, 95% CI: 1.233-2.414; HR=2.492, 95% CI: 1.690-3.672, respectively). After PSM, SII was still an independent prognostic factor of OS, PFS and DMFS in NPC patients ( HR=1.52, 95% CI: 1.09-2.12; HR=1.52, 95% CI: 1.15-2.00; HR=1.82, 95% CI: 1.26-2.63, respectively). Combined with N 2-3 stage, SII (>447.2×10 9/L), and LDH (>198.9 U/L), patients were divided into high-(3 risk factors), intermediate- (2 risk factors) and low-risk (0-1 risk factors) groups. The 5-year OS rates of patients in low-, intermediate- and high-risk groups were 86.1%, 79.8% and 41.2% respectively, the 5-year PFS rates were 80.7%, 70.2% and 33.9% respectively, and the 5-year DMFS rates were 88.9%, 79.2% and 47.5% respectively. There were significant differences in OS, PFS and DMFS among these three groups ( P<0.001). Distant metastasis was the main failure pattern in low-, intermediate- and high-risk groups, and the highest rate of distant metastasis was 83.3% (15/31) in high-risk group. ROC curve of the risk stratification model for predicting 5-year OS of NPC patients is 0.610, which is higher than TNM stage (0.609), SII (0.574) and LDH (0.558). Conclusions:Pretreatment SII and LDH are significantly correlated with the prognosis of patients with non-metastatic NPC. The combination of SII, LDH and N stage can stratify the prognostic risk of NPC patients. The risk stratification model can enhance the accuracy of prognosis.

Objective:To systematically review the factors affecting adherence with exercise rehabilitation in patients with heart failure, so as to provide a theoretical basis for formulating intervention strategies.Methods:PubMed, Web of Science, Cochrane Library, JBI Library, Embase, CINAHL, Medline, PsycINFO, OVID, CENTRAL, Chinese Biomedical literature Database, China National Knowledge Infrastructure, Wanfang Database and VIP Database were searched for qualitative studies on the influencing factors of exercise rehabilitation adherence from the establishment of the databases to November 31, 2020. The evaluation was performed using the Australian JBI Evidence-Based Health Care Center (2016) qualitative research quality evaluation criteria, and the results were integrated using the Meta integration method.Results:A total of 10 studies were included, 22 research results were extracted, 5 new categories were summarized and 2 integrated results were obtained. The first was the patients' own factors, including physical health status, exercise behavior intention and exercise experience. The second was external factors, including the environment and resources.Conclusions:The adherence of exercise rehabilitation in patients with heart failure is affected by multi-dimensional factors. When formulating intervention strategies, medical staff should start from improving health status of patients, stimulating exercise behavior intention and guiding positive feedback experience, and at the same time provide necessary exercise environment and resource support to improve adherence with exercise rehabilitation in patients with heart failure.

Objective:To evaluate and summarize the best evidence of exercise instructions for patients with atrial fibrillation.Methods:A comprehensive search about evidence on exercise rehabilitation in patients with atrial fibrillation was conducted in following databases: Joanna Briggs Institute (JBI) Library, The Agency for Healthcare Research and Quality (AHRQ), National Institute for Health and Clinic Excellence (NICE), Scottish Intercollegiate Guidelines Network (SIGN), Registered Nurses′ Association of Ontario (RNAO), Physiotherapy Evidence Database (PEDro), American College of Physicians (ACP), Cochrane Library, PubMed, Embase, CINAHL, Medlive, China National Knowledge Infrastructure (CNKI), WanFang Database, VIP Database, and China Biology Medicine (CBM). The retrieval period was from the inception of databases to January 2021. Two researchers with evidence-based nursing background assessed the quality of the literature independently and identified the level of evidence.Results:A total of 16 articles were included, including 4 guidelines, 4 systematic reviews, 4 expert consensuses, 4 randomized controlled trials. Combined with professional judgment, 35 pieces of best evidence in 7 aspects were summarized, including exercise benefits, the appropriate crowd, exercise evaluation, exercise mode, exercise intensity, exercise time, exercise supervision and safety.Conclusions:Regular exercise is safe and beneficial for patients with atrial fibrillation. Clinical staff should guide patients to exercise moderately by applying the best evidence with scientific exercise intervention, promoting patients′ physical and mental health.

Objective:To understand the medical experience of patients with early lung cancer in pre-hospitalization, find out the problems and shortcomings in the service process, and provide the basis for improving the quality of medical service under the pre-hospitalization mode.Methods:Through phenomenological research method, 21 pre-hospitalized patients with early lung cancer from September to October 2020 in the First Hospital Affiliated to Guangzhou Medical University were selected by purpose sampling method for semi-structured interviews, and the research data were analyzed by Colaizzi seven-step method.Results:There were four themes in the medical experience of early lung cancer pre-hospitalized patients: the turnover rate of beds was fast, the length of stay and cost of stay were reduced, the inclusion criteria of pre-hospitalization lacked the humanization, admission and examination procedures needed to be optimized and insufficient doctor-patient communication during pre-hospitalization.Conclusions:The implementation of pre-hospitalization mode can make patients′ medical treatment more convenient and efficient, and reduce hospitalization expenses. However, there are still some shortcomings in the management of pre-hospitalization of early lung cancer patients. The pre-hospitalization process should be further standardized, and the communication and management of pre-hospitalization patients during waiting period for out-of-hospital examination should be strengthened.