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 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 explore the effect of informationized closed-loop management in the consultation of over-dose narcotics. METHODS Since November 2021， the informationized consultation mode of over-dose narcotics had been established innovatively in our hospital on the basis of the previous process of over-dose narcotics use； the consultation mode of over-dose narcotics transformed from paper to information. The standardized rate of consultation for over-dose narcotics， the waiting time of consultation for patients using over-dose narcotics were compared before （from January to April 2021） and after the improvement （from November 2021 to February 2022）. RESULTS The informationized closed-loop management of over-dose narcotics consultation in our hospital was realized by improving hospital information system （maintaining basic information， embedding relevant reminder and consultation modules， and establishing query and statistics functions） and introducing mobile terminal. After establishing the mode， the standardized rate of the consultation increased from 55.56% to 93.75%； the waiting time for consultation was shortened from （20.61±9.77） min to （5.87±2.45） min. CONCLUSIONS The informationized closed-loop management can effectively improve the standardization rate of consultations for over-dose narcotics and reduce the waiting time for consultation for patients using over-dose narcotics.

Objective:To construct an out-of-hospital health management content system for children with type 1 diabetes (T1DM) to provide a basis for clinical nursing staff to carry out targeted health education and evaluation.Methods:A research group was established in April 2019. Guided by mobile health, the first draft of out-of-hospital health management system for children with T1DM was constructed through literature review, semi-structured interviews and expert meetings. A total of 20 experts were selected from pediatric wards of 11 Class Ⅲ Grade A children's specialties or general hospitals in Beijing, Shanghai, Henan Province, Zhejiang Province and other provinces, and the Delphi method was applied for 2 rounds of consultation. The out-of-hospital health management content system for T1DM children based on mobile health was constructed and revised to form the final draft.Results:After 2 rounds of expert consultation, the opinions of 20 experts reached consensus. The recovery rates of the 2 rounds of expert consultation questionnaire were both 100.0%, the expert familiarity was 0.96, the expert judgment basis was 0.98 and the authority coefficient was 0.97. Finally, out-of-hospital health management content system for T1DM children consisted of 6 first-level indicators, 14 second-level indicators and 69 third-level indicators.Conclusions:The out-of-hospital health management content system for T1DM children in this study is scientific and comprehensive, which can provide theoretical references and unified standards for clinical nurses to conduct out-of-hospital health management and evaluation effect based on mobile health.

Objective:To explore the current situation of psychological resilience and emergency rescue knowledge, attitudes and practice of pediatric nurses during public health emergencies, and analyze the influencing factors of psychological resilience, aiming at providing a basis for nursing managers to formulate strategies to improve psychological resilience, so as to further improve nursing staff's response to public health emergencies level.Methods:This study was a cross-sectional study. From February to April 2020, convenience sampling was adopted to select the pediatric nurses of the national children's hospitals or general hospitals as the research object. The General Information Questionnaire, the Connor-Davidson Resilience Scale (CD-RISC) and the Knowledge, Attitude and Practice Questionnaire for Medical Practitioners about Emergency Rescue of Public Health Events were used for investigation. A total of 13 091 questionnaires were distributed, and 12 750 valid questionnaires were returned with the valid response rate of 97.4%.Results:Among 12 750 nurses, the total score of CD-RISC was (65.53±15.55) . Multiple stepwise regression analysis showed that age, fertility, position, title, years of pediatric work, economic zone of the hospital, basic knowledge, psychological knowledge, other knowledge, emergency rescue attitude and emergency rescue practice were the main influencing factors of the psychological resilience of pediatric nurses during public health emergencies ( P<0.05) . Conclusions:The psychological resilience level of pediatric nurses in my country during public health emergencies needs to be improved. We should pay attention to nurses ≤40 years old, have no child, junior professional title, no positions, 6-10 years of pediatric work, and in the western region, and strengthen emergency rescue basic knowledge, psychological knowledge and other knowledge training, and improve their emergency rescue attitudes and behaviors, so as to improve the psychological resilience of pediatric nurses during public health events.

Objective To understand the family management and resilience in nephrotic syndrome children to explore the influence of family management on resilience so as to provide a reference for family management and environmental support for chronic disease children. Methods From April 2017 to April 2018, we selected 130 nephrotic syndrome children and main caregivers at a Class Ⅲ Grade A comprehensive children's hospital as subjects by convenience sampling. The investigation was carried out with the general information questionnaire, Chronic Illness Children's Resilience Scale (CICRS) and Family Management measure (FaMM). A total of 130 questionnaires were sent out and 127 valid questionnaires were collected with 97.69% for the valid recovery rate. Results Among those 127 nephrotic syndrome children, the total score of resilience was (99.84±12.53). There were 15 (11.81%) children with the high level of resilience, 102(80.31%) children with medium level and 10 (7.87%) children with the low level. Results showed that the score of child daily life had a positive correlation with the total score of children's resilience (P＜0.05); scores of family members' fears of disease and difficulty of disease management had negative correlations with the score of children's coping style (P＜ 0.05); score of family members' management ability had a positive correlation with the score of children's coping style (P＜0.05); score of disease burn out was negatively correlated with the score of interpersonal relation (P＜0.05); score of supporting each other of parents were positively correlated with the scores of children's individual characteristics and children's perceived family influence (P＜ 0.05). Conclusions Resilience and family management of nephrotic syndrome children need to be improved. Nurses should pay attention to the influence of family support and environmental support on psychological factors in children, and guide children to improve their coping capacity and family members to positively perceive children's school function, interpersonal relation and family environment to improve children's psychological health.

Objective To investigate the expressions of IgG,Gab2 and PTEN in human gliomas and analyze their relationship with patient prognosis. Methods Immunohistochemistry was performed to detect the expressions of IgG,Gab2 and PTEN in 55 cases of gliomas and 20 cases of normal brain tissues. The mRNA expression of IgG in glioma tissues was detected by in situ hybridization. Results IgG protein and IgG mRNA were expressed in glioma tissues. IgG,Gab2,PTEN expression rate in normal brain tissues was significantly different to that in glioma-tissues(5.0%vs. 69.0%,5.0%vs. 52.7%,and 85.0%vs. 25.5%,P<0.05). Expression of IgG was positively related with expression of Gab2 in glioma(r = 0.3124,P < 0.05),IgG and PTEN expression were negatively related with each other(r=-0.422,P<0.05). Conclusions IgG and Gab2 are highly expressed in glioma. The expression of PTEN was downregulated in glioma. IgG,Gab2 and PTEN might be involved in the development of glioma.