Objective:To explore the clinical feature and genetic variation of NPHS1 variant-associated nephropathy ( NPHS1-VAN) in Chinese patients. Methods:This study was a case-series analysis. Patients with NPHS1-VAN, who were treated and/or followed in the Department of Pediatrics, Nanfang Hospital, Southern Medical University between 2018 and 2023 were recruited into this study. Genotype, phenotype and their relationship were analyzed. Results:Nine NPHS1-VAN patients from 8 non-consanguineous Chinese families were collected, including 5 males and 4 females. There were 7 cases with an onset age within 3 months and 2 cases with an onset age of 6 months and 13 years, respectively. Seven patients harbored compound heterozygous variants, two had homozygous variants, including 8 missense variations,3 frameshift variants, and 1 splicing site variant. Four patients in 3 families harbored missense variant c.928G>A, two of them experienced spontaneous remission of proteinuria at the age of 1 year and 2 years, respectively, another one had persistent proteinuria and entered end stage renal disease (ESRD) at 11 years old. The other one had an onset age of 6 months with no response to steroids initially. She got complete remission by tacrolimus administered, but relapse frequently and partially responded to steroids later. Two patients of this group died, one of them died of respiratory failure 3 days after birth. Excessive amniotic fluid and fetal edema were acknowledged at 28 weeks of gestational age. He harbored compound heterozygous variants of NPHS1, c.1135C>G (R379G) and c.1339G>A (E447K). His mother previously experienced fetal death at 28 weeks gestational age for her first pregnant and stillborn at 36 weeks of gestational age for her second pregnant, respectively. One patient in this study who harbored homozygous variant of c.1339G>A (E447K) presented with a mild phenotype, onset age was 13 years old and didn't progress to ESRD yet at 21 years. Thus, variant E447K was hypothesized to be weakly pathogenic, while R379G may be strongly pathogenic with a risk of death. Five novel variants were identified in this group of patients, 3 missense variants (c.1135C>G, c.1157A>T, c.3197T>A) and 2 frameshift variants (c.709_710delCT, c.3193delG). Renal biopsy was performed in 4 cases, of whom two were focal segmental glomerular sclerosis and another two were minimal change disease. Conclusions:NPHS1-VAN possesses remarkable clinical and genetic heterogeneity. Five novel variants were identified. Missense variant is the most common variant type and c.928G>A is the most common one in this group of patients, in consistent with previous report in China. Children harbor c.928G>A may have a mild phenotype with possible spontaneous remission and may be response to steroids and calcineurin inhibitor. Variant c.1135C>G (R379G) may have a strong pathogenicity, and patient who harbors this variant may have a severe phenotype.

Objective:To explore the current status of perceived vulnerability and its influencing factors among parents of children with type 1 diabetes mellitus (T1DM) .Methods:A convenience sampling method was used to select 220 parents of children with T1DM from the diabetes care and consultation outpatient clinic at Beijing Children's Hospital, Capital Medical University, from June to November 2023. The parents were surveyed using a general information questionnaire, the Parental Perceived Vulnerability Scale, the Family Care Index, and the Parental Illness Uncertainty Scale.Results:A total of 220 questionnaires were distributed, with 192 valid responses. The total score on the Parental Perceived Vulnerability Scale was (13.91±5.39), the total score on the Family Care Index was (5.39±2.73), and the total score on the Parental Illness Uncertainty Scale was (75.36±17.34). Multiple linear regression analysis showed that whether the child was an only child, family monthly income per capita, parents' religious beliefs, family care level, and illness uncertainty were significant influencing factors for perceived vulnerability ( P<0.05), explaining 36.5% of the variance. Conclusions:Healthcare professionals should pay more attention to parents who have only children, have lower family income, and do not have religious beliefs. Interventions aimed at improving family care levels and reducing illness uncertainty may help decrease the perceived vulnerability among parents of children with T1DM.

Objective:To explore the current status of perceived vulnerability and its influencing factors among parents of children with type 1 diabetes mellitus (T1DM) .Methods:A convenience sampling method was used to select 220 parents of children with T1DM from the diabetes care and consultation outpatient clinic at Beijing Children's Hospital, Capital Medical University, from June to November 2023. The parents were surveyed using a general information questionnaire, the Parental Perceived Vulnerability Scale, the Family Care Index, and the Parental Illness Uncertainty Scale.Results:A total of 220 questionnaires were distributed, with 192 valid responses. The total score on the Parental Perceived Vulnerability Scale was (13.91±5.39), the total score on the Family Care Index was (5.39±2.73), and the total score on the Parental Illness Uncertainty Scale was (75.36±17.34). Multiple linear regression analysis showed that whether the child was an only child, family monthly income per capita, parents' religious beliefs, family care level, and illness uncertainty were significant influencing factors for perceived vulnerability ( P<0.05), explaining 36.5% of the variance. Conclusions:Healthcare professionals should pay more attention to parents who have only children, have lower family income, and do not have religious beliefs. Interventions aimed at improving family care levels and reducing illness uncertainty may help decrease the perceived vulnerability among parents of children with T1DM.

Objective:To explore the clinical feature and genetic variation of NPHS1 variant-associated nephropathy ( NPHS1-VAN) in Chinese patients. Methods:This study was a case-series analysis. Patients with NPHS1-VAN, who were treated and/or followed in the Department of Pediatrics, Nanfang Hospital, Southern Medical University between 2018 and 2023 were recruited into this study. Genotype, phenotype and their relationship were analyzed. Results:Nine NPHS1-VAN patients from 8 non-consanguineous Chinese families were collected, including 5 males and 4 females. There were 7 cases with an onset age within 3 months and 2 cases with an onset age of 6 months and 13 years, respectively. Seven patients harbored compound heterozygous variants, two had homozygous variants, including 8 missense variations,3 frameshift variants, and 1 splicing site variant. Four patients in 3 families harbored missense variant c.928G>A, two of them experienced spontaneous remission of proteinuria at the age of 1 year and 2 years, respectively, another one had persistent proteinuria and entered end stage renal disease (ESRD) at 11 years old. The other one had an onset age of 6 months with no response to steroids initially. She got complete remission by tacrolimus administered, but relapse frequently and partially responded to steroids later. Two patients of this group died, one of them died of respiratory failure 3 days after birth. Excessive amniotic fluid and fetal edema were acknowledged at 28 weeks of gestational age. He harbored compound heterozygous variants of NPHS1, c.1135C>G (R379G) and c.1339G>A (E447K). His mother previously experienced fetal death at 28 weeks gestational age for her first pregnant and stillborn at 36 weeks of gestational age for her second pregnant, respectively. One patient in this study who harbored homozygous variant of c.1339G>A (E447K) presented with a mild phenotype, onset age was 13 years old and didn't progress to ESRD yet at 21 years. Thus, variant E447K was hypothesized to be weakly pathogenic, while R379G may be strongly pathogenic with a risk of death. Five novel variants were identified in this group of patients, 3 missense variants (c.1135C>G, c.1157A>T, c.3197T>A) and 2 frameshift variants (c.709_710delCT, c.3193delG). Renal biopsy was performed in 4 cases, of whom two were focal segmental glomerular sclerosis and another two were minimal change disease. Conclusions:NPHS1-VAN possesses remarkable clinical and genetic heterogeneity. Five novel variants were identified. Missense variant is the most common variant type and c.928G>A is the most common one in this group of patients, in consistent with previous report in China. Children harbor c.928G>A may have a mild phenotype with possible spontaneous remission and may be response to steroids and calcineurin inhibitor. Variant c.1135C>G (R379G) may have a strong pathogenicity, and patient who harbors this variant may have a severe phenotype.

Objective:To summarize the clinical features of 8 cases with intramycardial hematoma(IMH) following congenital cardiac surgery in children.Methods:We retrospectly searched 8 patients with intramycardial hematoma after congenital cardiac surgery in Guangzhou Women and Children’s Medical Center from 2008 to 2024.Results:Mean age and mean weight at surgery were(13±15) months and(7.8±3.5)kg respectively. 6 of 8 cases were interventricular septal hematoma. In the other 2 patients, intramycardial hematoma was located in left ventrical free wall. All IMH were postoperatively detected by transthoracic echocardiaography. Two patients were managed with ECMO intraoperatively. Finally, all patients were discharged successfully with good clinical results. Mean time to IMH resolution in six patients was(33.5±4.6) days and mean left ventricular ejection fraction(LVEF) was 0.60±0.09. Another patient was followed up for 3 months and the IMH was not absorbed. One patient was lost to follow-up.Conclusion:IMH is a rare complication after congenital heart disease. The absorption of hematoma is a dynamic process and mean time to IMH resolution is about 1month. In IMH patients with hemodynamic instability, ECMO can be a good treatment to create opportunities for hematoma absorbtion.

Objective:To analyze the status quo and influencing factors of post-traumatic growth of parents of children and adolescents with type 1 diabetes mellitus (T1DM) .Methods:The convenient sampling method was used to select parents of children with T1DM who were admitted to the diabetes care consultation clinic of Beijing Children's Hospital, Capital Medical University from March 2022 to March 2023 as the research objects. The parents of children were investigated by general information questionnaire, Posttramnatic Growth Inventory, Simplified Coping Style Questionnaire and Perceived Social Support Scale.Results:A total of 200 questionnaires were sent out in this study, and 187 were effectively collected, with an effective recovery rate of 93.5% (187/200). The total score of Posttramnatic Growth Inventory for parents of T1DM children was (60.28±18.37). The positive coping score in Simplified Coping Style Questionnaire was (22.40±6.94) and the negative coping score was (8.94±4.58). The total score of Perceived Social Support Scale was (57.39±14.57). The results of multiple linear regression analysis showed that HbA1c, monthly family income, educational level, positive coping strategies and perceived social support were the influencing factors for the post-traumatic growth of parents of T1DM children, explaining 33.8% of the variation in post-traumatic growth of parents of T1DM children.Conclusions:The post-traumatic growth of parents of T1DM children is at a moderate level. Medical staff should pay more attention to parents of children with poor blood sugar control, low educational level and low monthly family income, guide them from the perspective of positive psychology, encourage parents to adopt positive and effective coping strategies and emphasize the importance of social support, so as to improve the level of post-traumatic growth of parents of children with T1DM.

Objective: To understand potential categories of lifestyle behaviors and its association with traditional Chinese medicine (TCM) constitution among higher vocational medical students, so as to provide reference for the physical health management of them. Methods: From October to December 2022, 2 720 medical students from three higher vocational medical colleges in Anhui Province were selected by stratified cluster sampling method and were investigated with a questionnaire of lifestyle and TCM body constitution. Potential category analysis (LCA) and multiple linear regression were used to explore the relationship between potential categories of lifestyle behaviors and TCM constitutions. Results: The lifestyle behavior of vocational medical students were classified into three potential categories:general health group (83.60%), smoking and drinking group (4.85%) and diet preference group (11.55%). There were significant differences in the distribution of TCM constitution types among the three groups ( χ 2=46.32, P < 0.01 ). The proportion of general health group was the higher in balanced constitution (46.39%), and the proportion of smoking and drinking type was higher in phlegm dampness (25.00%). The dietary preferences were higher in phlegm dampness (20.38%), Yin deficiency (15.92%) and damp heat (20.70%). Taking balanced constitution as a reference, the occurrence risk of phlegm and dampness in smoking and drinking type and diet preference type was 1.75 times higher (95% CI =1.09-2.77) and 1.78 times higher (95% CI = 1.26-2.49) than that in general health group ( P <0.05). Conclusion There are certain aggregation characteristics in lifestyle behaviors among higher vocational medical students, which show significant relations with TCM constitutions. Targeted intervention should be carried out according to the demographic characteristics of higher vocational medical students, potential categories of behavior and lifestyle characteristics and TCM constitutions.

Objective:To evaluate the clinical efficacy of percutaneous intramyocardial septal radiofrequency ablation (PIMSRA) in the treatment of obstructive hypertrophic cardiomyopathy (HOCM) with mild septal hypertrophy.Methods:Forty-five HOCM patients with mild septal hypertrophy (the maximal left ventricular wall thickness is 15-19 mm) who were treated with PIMSRA between November 2016 to February 2021 in the Hypertrophic Cardiomyopathy Center of Xijing Hospital of Air Force Military Medical University were enrolled, and their clinical datas were collected and analyzed. The clinical symptoms and NYHA functional class before operation, 6 months and 1 year after operation were collected. Interventricular septum thickness, left ventricular outflow tract pressure gradient, left ventricular outflow tract diameter, mitral regurgitation, left ventricular systolic and diastolic function were evaluated by transthoracic echocardiography before operation, 6 months and 1 year after operation, intraoperative complications were monitored and recorded. Postoperative arrhythmias were monitored by routine 12 lead ECG and 24-hour ambulatory ECG.Results:All patients successfully completed PIMSRA procedure.No clinical adverse events such as death, bleeding and stroke occurred during and around the operation.No left bundle branch block, complete atrioventricular block and malignant arrhythmia occurred after the operation. All patients did not need permanent pacemaker implantation.NYHA functional class and clinical symptoms of patients were significantly improved after 6 months compared with values before operation (all P<0.001, respectively), it remained stable for 1 year after operation; Anterior interventricular septum, posterior interventricular septum, maximal left ventricular wall thickness all significantly decreased (all P<0.001, respectively), left ventricular outflow tract diameter widened ( P<0.001), continuous improvement 1 year after operation; left ventricular outflow tract gradient and provoked left ventricular outflow tract gradient all significantly decreased, mitral regurgitation decreased and SAM classification reduced after 6 months compared with values before operation (all P<0.001, respectively); left ventricular end-diastolic diameter widened and left atrial diameter decreased (all P<0.001, respectively), it remained stable for 1 year after operation. Left atrial volume index decreased ( P<0.001), with continuous improvement 1 year after operation; The ratio of early diastolic mitral valve velocity to early diastolic mitral annulus velocity (E/e′) decreased ( P=0.001), it remained stable for 1 year after operation. There were no significant differences in left ventricular end diastolic volume, left ventricular end systolic volume and left ventricular ejection fraction among the three groups (all P>0.05). Conclusions:PIMSRA is effective in the treatment of obstructive hypertrophic cardiomyopathy with mild ventricular septal hypertrophy.

Objective:To investigate the effect of percutaneous intramyocardial septal radiofrequency ablation (PIMSRA) guided by echocardiography on the Lown classification of ventricular arrhythmias in patients with hypertrophic obstructive cardiomyopathy (HOCM).Methods:A total of 85 patients with HOCM who received PIMSRA treatment at Xijing Hospital of Air Force Military Medical University from May 2017 to October 2019 were retrospectively selected. All patients underwent 24-hour Holter examinations before and 1 year after PIMSRA to obtain parameters related to Lown classification. The changes in Lown grades after PIMSRA were analyzed. The patients were divided into improved group and unimproved group according to whether there was significant improvement in Lowen′s grades, and the difference of the parameters related were compared. The influencing factors of the changes in Lown classification were analyzed.Results:Compared with before PIMSRA, there was a significant improvement in the Lown classification after PIMSRA ( P=0.001). The patients with Lown grade Ⅰ increased significantly ( P=0.001), and the patients with grade Ⅲ decreased significantly ( P=0.005). There were no significant changes in patients with Lown grades 0, Ⅱ, and Ⅳ (all P>0.05). The proportion of patients with family history of hypertrophic cardiomyopathy (HCM), the baseline Lown classes, the reduction rate of the maximum left ventricular wall thickness and the reduction rate of the provocative left ventricular outflow tract gradient (LVOTG) were higher in the improved group than the unimproved group (all P<0.05). Multivariate Logistic regression results showed that HCM family history ( OR=3.95, 95% CI=1.34-11.64, P=0.013), baseline Lown classes ( OR=2.01, 95% CI=1.25-3.22, P=0.004) and the reduction rate of the provocative LVOTG gradient ( OR=1.02, 95% CI=1.00-1.04, P=0.041) were independent factors of postoperative Lown classification improvement. Conclusions:The Lown classes of HOCM patients after PIMSRA is significantly improved.HCM family history, the baseline Lown classes, and the reduction rate of postoperative provocative LVOTG are independent influencing factors for the improvement of Lown grade.

Objective:To retrieve and analyze evidence on exercise-related hypoglycemia prevention in children with type 1 diabetes mellitus (T1DM) and summarize the best evidence.Methods:BMJ Best Practice, UpToDate, NICE, JBI, SIGN, Cochrane Library, RNAO, IDF, ADA, Web of Science, PubMed, Embase, Medlive, Wanfang database, China National Knowledge Infrastructure (CNKI) and China Biology Medicine disc (CBM) were searched by computer for guidelines, evidence summary, recommended practice, systematic review, clinical decision-making and expert consensus on the prevention of exercise-related hypoglycemia in children with T1DM in the recent 6 years (2015-2020) .Results:A total of 13 papers were included, including 6 guidelines, 3 expert consensus papers and 4 clinical decision papers. Finally, 32 pieces of best evidence were formed, including 7 aspects such as characteristics of exercise-related hypoglycemia, the prevention strategies of hypoglycemia before, during and after exercise, and nocturnal hypoglycemia, hypoglycemia prevention strategies and health education.Conclusions:The best evidence of exercise-related hypoglycemia prevention strategy for T1DM children selected in this study is comprehensive and specific, based on which nursing staff can conduct health education on exercise-related hypoglycemia prevention for out-of-hospital type 1 diabetes children and their parents.