Objective To explore the current situation of disease perception in patients with tophi and its correlation with the quality of life. Methods A retrospective analysis was conducted on 303 gout patients admitted to the Shanghai Sixth People&#39;s Hospital from January 2023 to December 2024. The patients were classified into tophi gout (n=150) and non-tophi gout (n=153) groups based on whether they were tophi gout or not. The current disease perception status and quality of life of the two groups were compared using Simplified Chinese Version of the Disease Cognition Questionnaire (BIPQ) and Short Form of Health Survey (SF-36). Logistic regression was used to analyze the influencing factors of the quality of life of patients with tophi gout. Results Compared with the non-tophaceous gout group, the tophaceous gout group had a higher BIPQ score, and a lower SF-36 score (P<0.05). Among patients with tophaceous gout, 80 cases had good quality of life, and 70 cases had poor quality of life. These patients were included in the good quality of life group (n=80) and the poor quality of life group (n=70), respectively. Compared with the good quality of life group, patients in the poor quality of life group had longer gout course and average duration of each gout attack, as well as higher 20-item tophi impact questionnaire (TIQ-20) score and BIPQ score (P<0.05). Logistic regression analysis showed that the course of gout (OR=1.070, 95% CI: 1.017-1.126, P=0.009), TIQ-20 score (OR=1.048, 95% CI: 1.022-1.075, P<0.001), and BIPQ score (OR=1.055, 95%CI: 1.009-1.104, P=0.019) were risk factors affecting the quality of life in patients with tophaceous gout (P<0.05). Conclusion The course of gout, TIQ-20 score and BIPQ score are risk factors affecting the quality of life of patients with tophi gout.

Objective To clarify the risk factors of diaphragmatic dysfunction (DD) after cardiac surgery with extracorporeal circulation. Methods A retrospective analysis was conducted on the data of patients who underwent cardiac surgery with extracorporeal circulation in the Department of Cardiovascular Surgery of Peking University People&#39;s Hospital from January 2023 to March 2024. Patients were divided into two groups according to the results of bedside diaphragm ultrasound: a DD group and a control group. The preoperative, intraoperative, and postoperative indicators of the patients were compared and analyzed, and independent risk factors for DD were screened using multivariate logistic regression analysis. Results A total of 281 patients were included, with 32 patients in the DD group, including 23 males and 9 females, with an average age of (64.0±13.5) years. There were 249 patients in the control group, including 189 males and 60 females, with an average age of (58.0±11.2) years. The body mass index of the DD group was lower than that of the control group [(18.4±1.5) kg/m2 vs. (21.9±1.8) kg/m2, P=0.004], and the prevalence of hypertension, chronic obstructive pulmonary disease, heart failure, and renal insufficiency was higher in the DD group (P<0.05). There was no statistical difference in intraoperative indicators (operation method, extracorporeal circulation time, aortic clamping time, and intraoperative nasopharyngeal temperature) between the two groups (P>0.05). In terms of postoperative aspects, the peak postoperative blood glucose in the DD group was significantly higher than that in the control group (P=0.001), and the proportion of patients requiring continuous renal replacement therapy was significantly higher than that in the control group (P=0.001). The postoperative reintubation rate, tracheotomy rate, mechanical ventilation time, and intensive care unit stay time in the DD group were higher or longer than those in the control group (P<0.05). Multivariate logistic regression analysis showed that low body mass index [OR=0.72, 95%CI (0.41, 0.88), P=0.011], preoperative dialysis [OR=2.51, 95%CI (1.89, 4.14), P=0.027], low left ventricular ejection fraction [OR=0.88, 95%CI (0.71, 0.93), P=0.046], and postoperative hyperglycemia [OR=3.27, 95%CI (2.58, 5.32), P=0.009] were independent risk factors for DD. Conclusion The incidence of DD is relatively high after cardiac surgery, and low body mass index, preoperative renal insufficiency requiring dialysis, low left ventricular ejection fraction, and postoperative hyperglycemia are risk factors for DD.

Abstract Kidney stones are common and frequently occurring diseases in urology. In recent years, the incidence of urinary stones has increased year by year, affecting people′s quality of life and aggravating the social and economic burden. The occurrence and development of kidney stones are closely related to metabolic factors. This review mainly conducts a systematic overview of the research on the relationship between electrolyte metabolism abnormalities, dyslipidemias and other metabolic disorder diseases and kidney stones in recent years.By exploring the relationship between various metabolic disorder diseases and kidney stones, this review provides reference for exploring the occurrence and development of kidney stones from the perspective of metabolism.

Objective To investigate the HPV vaccination status of children aged 9-14 years, parents’ vaccine-related cognition, willingness to vaccinate children and their influencing factors. Methods From January to April 2021, the convenience sampling method was used to collect data based on the online platform and the Department of Pediatrics and Adolescent Gynecology of the Children&#39;s Hospital of Zhejiang University School of Medicine. The data were analyzed by descriptive analysis, Chi-square test, and logistic regression. Results A total of 864 questionnaires were collected, and 846 valid questionnaires were obtained after screening, with an effective rate of 97.9%. 13.57% of mothers and 3.09% of girls were vaccinated, and the vaccine awareness rate was 68.43%. 87.22% of parents were willing to bring their children for vaccination. Risk perception (OR=4.79, 95% CI: 2.22-10.35), willingness to vaccinate themselves (OR =29.01, 95% CI: 12.62-66.69), awareness of sex education (OR =3.73, 95% CI: 1.08-12.83) and whether the vaccines were free (P<0.001) were related to whether parents were willing to vaccinate their children. Conclusion Parents of children aged 9-14 have high awareness of HPV and HPV vaccine and are willing to vaccinate their children with HPV vaccine , but the vaccination rate in children is low. Disease perception, willingness to vaccinate, awareness of sex education, and whether vaccines are free are all the factors influencing parents&#39; willingness to vaccinate children.

Objective: To explore the pathogenic genes in a Chinese family affected by nonsyndromic tooth agenesis so as to study the pathogenesis of oligodontia. Methods : Hospital ethical approval and informed consent of the patients and family members were obtained. Clinical data of the proband and close family members were collected, peripheral venous blood was collected, and DNA was extracted. Gene sequencing was performed through whole-exome sequencing, and then the screened pathogenic genes were verified by Sanger sequencing. The three-dimensional structure of the mutant proteins was analyzed and compared with the wild-type using bioinformatics tools. Results: The two patients with congenital majority tooth loss in this family were cousins, and there were no other patients with congenital majority tooth loss in the family. Besides congenital multiple tooth loss, the two patients had no obvious hair abnormalities, finger/toe abnormalities, sweating abnormalities or other abnormal manifestations of ectodermal tissue. We found a mutant gene that in this family by carrying out gene sequencing of the patients and their close family members. A novel EDA (ectodysplasin A) missense mutation c.983C>T (p. Pro328Leu) was identified, which changed the encoded amino acid from proline (Pro) to leucine (Leu). Analysis of the mutation site showed that the site was highly conserved, and three-dimensional structure modeling also found that it changed the structure of EDA. Conclusion A novel EDA missense variant (c.983C>T, p.Pro328Leu) was first identified in a Chinese family with nonsyndromic tooth agenesis, extending the mutation spectrum of the EDA gene.

Objective To analyze the characteristics of chronic hepatitis B (CHB) complicated with non-alcoholic fatty liver disease (NAFLD), and to provide countermeasures for the prevention of NAFLD. Methods A total of 348 patients with CHB admitted to our hospital from June 2018 to June 2021 were randomly selected and divided into experimental group (CHB combined with NAFLD, n=195) and control group (CHB, n=153) according to whether they had NAFLD or not. Basic data such as age, sex, BMI (kg/m²), history of diabetes, history of hypertension, and history of alcohol consumption were collected. Serum indexes such as liver function (AST, ALT, GGT, ALP, ALB), blood lipid (TG, ldl-c), fasting blood glucose (FBG) and virological indexes such as hepatitis B virus (HBV DNA) were collected. Results A total of 348 CHB patients were included in the study, including 195 (56.03%) patients with NAFLD. The high NAFLD incidence age was between 30 and 45 years old (163 cases, 46.84%). The incidence of NAFLD in male (131 cases, 70.81%) was significantly higher than that in female (64 cases, 39.26%) (χ²=35.005, P<0.05). The incidence of NAFLD in male patients was significantly higher than that in female patients at age <30 and 30~45 (χ²=10.625, χ²=20.238, P<0.05). There was no significant difference in the incidence rate of NAFLD between men and women at age >45 years (χ²=2.005, P>0.05). There were no significant differences in the history of hypertension, ALT and ALP between the two groups (P>0.05). The differences in age, sex, BMI, history of diabetes, history of alcohol consumption, AST, TG, TG, FBG and FBG between the two groups were statistically different (P<0.05). Logistic regression analysis showed that increased BMI, AST, FBG and LDL were independent risk factors for NAFLD in CHB patients (P<0.05). Conclusions CHB with NAFLD often has glucolipid metabolic disorder, which is related to increased body mass index and AST. It is suggested that we should strengthen the health management of patients with high blood pressure, diabetes, overweight, and obesity, guide patient to balance their diet, adjust their diet structure, control their body weight and glycolipid abnormalities, adjust body fat, reduce blood pressure by drugs, and control blood sugar in a timely manner, and maintain a healthy lifestyle.

Objective    To summarize the experience and lessons of right ventricular decompression in children with pulmonary atresia and intact ventricular septum (PA/IVS) and to reflect on the strategies of right ventricular decompression. Methods    The clinical data of 12 children with PA/IVS who underwent right ventricular decompression in our hospital from March 2015 to December 2019 were reviewed retrospectively. There were 10 males and 2 females with a median age at the time of surgery was 5 d (range, 1-627 d). Correlation analysis between the pulmonary valve transvalvular pressure gradient and changes in Z score of tricuspid valves after decompression was performed. Results    One patient died of refractory hypoxemia due to circulatory shunt postoperatively and family members gave up treatment. There were 2 (16.67%) patients received postoperative intervention. The pulmonary transvalvular gradient after decompression was 31.95±21.75 mm Hg. Mild pulmonary regurgitation was found in 7 patients, moderate in 2 patients, and massive in 1 patient. The median time of mechanical ventilation was 30.50 h (range, 6.00-270.50 h), and the average duration of ICU stay was 164.06±87.74 h. The average postoperative follow-up time was 354.82±331.37 d. At the last follow-up, the average Z score of tricuspid valves was 1.32±0.71, the median pressure gradient between right ventricle and main pulmonary artery was 41.75 mm Hg (range, 21-146 mm Hg) and the average percutaneous oxygen saturation was 92.78%±3.73%. Two children underwent percutaneous balloon pulmonary valvoplasty at 6 and 10 months after surgery, respectively, with the rate of reintervention-free of 81.8%. There was no significant correlation between pulmonary transvalvular gradients after decompression and changes in Z score of tricuspid valves (r=–0.506, P=0.201). Conclusion    For children with PA/IVS, the simple pursuit of adequate decompression during right ventricular decompression may lead to  severe pulmonary dysfunction, increase the risk of ineffective circular shunt, and induce refractory hypoxemia. The staged decompression can ensure the safety and effectiveness for initial surgery and reduce the risk of postoperative death.

Objective To investigate the rehabilitation needs and technical support for people with disabilities in rural areas. Methods From October, 2017 to February, 2018, 800 persons with disabilities, aged five to 80 years, from 23 villages in five township, Xi&#39;an, Shaanxi, were surveyed with self-designed questionnaire and interview, including the basic situation, disability and training plan, rehabilitation support and skills maintained. Results The persons were mainly aged 50 to 80 years (58.37%), male (65.37%), accepting middle school education or less (46.63%), married (70.63%), living with their family (77.38%), income less than 2000 Yuan (66%), mainly from their family labor (62.62%). Their disabilities were mainly of grade 3 (40.63%), from hemiplegia (30.63%), dependence in living (45.38%), and no systematic rehabilitation program (55.25%). Most of them needed rehabilitation of self-care (40%), accessible guidance (30.63%) and reimbursement from medicare of Rural Cooperative Medical Scheme (50.63%), and hoped to participate social activities (41.87%). The rehabilitation supports were as that: the rehabilitation services were mobile or none (67.58%), the guiders of rehabilitation were few or none (48.88%), knew some or less rehabilitation knowledge (64.25%), the professionals accepted no continue education training (40%).Conclusion It is important to improve the rehabilitation technical support system for rural people with disabilities.