Objective:To explore the clinical characteristics and healthcare burden in patients with McCune-Albright syndrome (MAS).Methods:A cross-sectional study was conducted at the Children′s Hospital, Zhejiang University School of Medicine. Clinical and healthcare burden data were systematically collected through structured questionnaires in 164 children with MAS from February 2022 to May 2023. According to the clinical characteristics, patients were categorized into 3 groups: monosymptomatic, bisymptomatic and trisymptomatic groups. Patients were also divided into 3 groups according to the age of <7, 7-<10 and 10-18 years. Comparative analyses of clinical characteristics and healthcare burden were conducted across age, sex, and symptom categories.Results:The cohort comprised 59 males (36.0%) and 105 females (64.0%) with an age of 4.6 (2.0, 7.4) years. Age stratification revealed 117 cases (71.3%) aged 0-<7 years, 29 cases (17.7%) aged 7-<10 years, and 18 cases (11.0%) aged 10-<18 years. Among monosymptomatic (67 cases, 40.9%), the cohort comprised 32 females (47.8%) and 35 males (52.2%), predominantly presenting with fibrous dysplasia (57 cases, 85.1%). This subgroup showed peak prevalence in the 0-<7 years age range (29 cases (50.9%)). The bisymptomatic cohort (56 cases, 34.1%) consisted of 39 females (69.6%) and 17 males (30.4%), predominantly manifesting fibrous dysplasia with skin hyperpigmentation (25 cases, 44.6%). Peak prevalence occurred in the 0-<7 years subgroup(16 cases (64.0%)). The trisymptomatic cohort (41 cases, 25.0%) consisted of 34 females (82.9%) and 7 males (17.1%), with peak prevalence occurring in the 0-<7 years subgroup (36 cases (87.8%)). The diagnostic journey analysis revealed 94 cases (57.3%) required 1-3 referrals, and 34 cases (20.7%) necessitated >3 referrals from symptom onset to definitive diagnosis. Healthcare expenditure analysis revealed 69 families (42.1%) incurred direct medical costs of 10 000-100 000 CNY, with 11 families (6.7%) exceeding >100 000 CNY. Direct non-medical costs reached of 10 000-100 000 CNY for 62 families (37.8%) and >100 000 CNY for 4 families (2.4%). Productivity loss affected 58 families (35.4%) at 10 000-100 000 CNY and 8 families (4.9%) above 100 000 CNY during the study period.Conclusion:MAS requires increased attention to skeletal manifestations, especially in children aged 0-<7 years. Moreover, the significant financial burden on families necessitates a society-wide support system.

Objective:To investigate the reference intervals of serum uric acid levels in normal-weight children and analyze the factors influencing these levels.Methods:In this cross-sectional study, clinical data were collected from 7 910 normal-weight children, aged 1 month to 15 years, who underwent health check-ups at the Children′s Hospital of Zhejiang University School of Medicine between August 2013 and August 2023. Data included sex, age, pubertal signs, blood pressure, and serum uric acid levels. The participants were categorized into 4 age groups: 1-<12 months, 1-<6 years, 6-<11 years, and 11-<16 years, and were further analyzed by sex. The P5 and P95 percentiles of uric acid values were defined as the lower and upper limits of the reference interval, respectively. Correlation analysis and partial correlation analysis were used to assess the relationship between uric acid and other variables such as age, body mass index Z value, and Tanner stage. Multivariate linear regression was used to compare uric acid levels across gender and age groups, respectively. Results:Among the 7 910 children, the distribution across age groups was as follows: 562 (317 boys) in 1-<12 months, 4 120 (2 366 boys) in 1-<6 years, 2 357 (1 432 boys) in 6-<11 years, and 871 (536 boys) in 11-<16 years, the uric acid levels in boys were significantly higher than those in girls ( P<0.05). Uric acid levels exhibited a positive correlation with age ( r=0.47 , 0.20, both P<0.001), and a weak positive correlation with BMI Z-scores(both r=0.11, P<0.001). Among participants aged 6-<11 years and 11-<16 years, uric acid levels in boys were positively correlated with Tanner stage ( r=0.10, 0.27, both P<0.05), but no significant correlation was observed in girls (all P>0.05). The uric acid levels were significantly higher in boys than in girls in the 1-<12 months, 1-<6 years and 11-<16 years age groups (all P<0.05), but no significant gender difference was found in the 6-<11 years groups ( P>0.05). Uric acid levels exhibited statistically significant variations among age groups ( P<0.001). The reference intervals of uric acid values were as follows in 1-<12 months age group, 157-335 μmol/L for boys and 160-315 μmol/L for girls; in 1-<6 years age group, 180-359 μmol/L for boys and 180-355 μmol/L for girls; in 6-<11 years group, 190-375 μmol/L; in 11-<16 years age group, 237-480 μmol/L for boys and 218-410 μmol/L for girls. Conclusions:Reference intervals for uric acid varying significantly across different pediatric age groups. Sex, and pubertal development status are closely related to uric acid levels.

Objective:To explore the clinical characteristics and healthcare burden in patients with McCune-Albright syndrome (MAS).Methods:A cross-sectional study was conducted at the Children′s Hospital, Zhejiang University School of Medicine. Clinical and healthcare burden data were systematically collected through structured questionnaires in 164 children with MAS from February 2022 to May 2023. According to the clinical characteristics, patients were categorized into 3 groups: monosymptomatic, bisymptomatic and trisymptomatic groups. Patients were also divided into 3 groups according to the age of <7, 7-<10 and 10-18 years. Comparative analyses of clinical characteristics and healthcare burden were conducted across age, sex, and symptom categories.Results:The cohort comprised 59 males (36.0%) and 105 females (64.0%) with an age of 4.6 (2.0, 7.4) years. Age stratification revealed 117 cases (71.3%) aged 0-<7 years, 29 cases (17.7%) aged 7-<10 years, and 18 cases (11.0%) aged 10-<18 years. Among monosymptomatic (67 cases, 40.9%), the cohort comprised 32 females (47.8%) and 35 males (52.2%), predominantly presenting with fibrous dysplasia (57 cases, 85.1%). This subgroup showed peak prevalence in the 0-<7 years age range (29 cases (50.9%)). The bisymptomatic cohort (56 cases, 34.1%) consisted of 39 females (69.6%) and 17 males (30.4%), predominantly manifesting fibrous dysplasia with skin hyperpigmentation (25 cases, 44.6%). Peak prevalence occurred in the 0-<7 years subgroup(16 cases (64.0%)). The trisymptomatic cohort (41 cases, 25.0%) consisted of 34 females (82.9%) and 7 males (17.1%), with peak prevalence occurring in the 0-<7 years subgroup (36 cases (87.8%)). The diagnostic journey analysis revealed 94 cases (57.3%) required 1-3 referrals, and 34 cases (20.7%) necessitated >3 referrals from symptom onset to definitive diagnosis. Healthcare expenditure analysis revealed 69 families (42.1%) incurred direct medical costs of 10 000-100 000 CNY, with 11 families (6.7%) exceeding >100 000 CNY. Direct non-medical costs reached of 10 000-100 000 CNY for 62 families (37.8%) and >100 000 CNY for 4 families (2.4%). Productivity loss affected 58 families (35.4%) at 10 000-100 000 CNY and 8 families (4.9%) above 100 000 CNY during the study period.Conclusion:MAS requires increased attention to skeletal manifestations, especially in children aged 0-<7 years. Moreover, the significant financial burden on families necessitates a society-wide support system.

Objective:To investigate the reference intervals of serum uric acid levels in normal-weight children and analyze the factors influencing these levels.Methods:In this cross-sectional study, clinical data were collected from 7 910 normal-weight children, aged 1 month to 15 years, who underwent health check-ups at the Children′s Hospital of Zhejiang University School of Medicine between August 2013 and August 2023. Data included sex, age, pubertal signs, blood pressure, and serum uric acid levels. The participants were categorized into 4 age groups: 1-<12 months, 1-<6 years, 6-<11 years, and 11-<16 years, and were further analyzed by sex. The P5 and P95 percentiles of uric acid values were defined as the lower and upper limits of the reference interval, respectively. Correlation analysis and partial correlation analysis were used to assess the relationship between uric acid and other variables such as age, body mass index Z value, and Tanner stage. Multivariate linear regression was used to compare uric acid levels across gender and age groups, respectively. Results:Among the 7 910 children, the distribution across age groups was as follows: 562 (317 boys) in 1-<12 months, 4 120 (2 366 boys) in 1-<6 years, 2 357 (1 432 boys) in 6-<11 years, and 871 (536 boys) in 11-<16 years, the uric acid levels in boys were significantly higher than those in girls ( P<0.05). Uric acid levels exhibited a positive correlation with age ( r=0.47 , 0.20, both P<0.001), and a weak positive correlation with BMI Z-scores(both r=0.11, P<0.001). Among participants aged 6-<11 years and 11-<16 years, uric acid levels in boys were positively correlated with Tanner stage ( r=0.10, 0.27, both P<0.05), but no significant correlation was observed in girls (all P>0.05). The uric acid levels were significantly higher in boys than in girls in the 1-<12 months, 1-<6 years and 11-<16 years age groups (all P<0.05), but no significant gender difference was found in the 6-<11 years groups ( P>0.05). Uric acid levels exhibited statistically significant variations among age groups ( P<0.001). The reference intervals of uric acid values were as follows in 1-<12 months age group, 157-335 μmol/L for boys and 160-315 μmol/L for girls; in 1-<6 years age group, 180-359 μmol/L for boys and 180-355 μmol/L for girls; in 6-<11 years group, 190-375 μmol/L; in 11-<16 years age group, 237-480 μmol/L for boys and 218-410 μmol/L for girls. Conclusions:Reference intervals for uric acid varying significantly across different pediatric age groups. Sex, and pubertal development status are closely related to uric acid levels.

Objective:To investigate the medical narrative competence of pediatric staff, and analyze its influencing factors and correlation with psychological resilience, and to discuss strategies to improve narrative competence.Methods:From January 11 to February 25, 2022, by convenience sampling, we sampled pediatric personnel and those on refresher training at Children's Hospital, Zhejiang University School of Medicine for a questionnaire survey involving general information, the narrative competence scale, and the 14-item resilience scale. With the use of SPSS 26.0, the narrative competence of different populations was compared, and factors affecting narrative competence were determined through Pearson correlation analysis and multiple regression analysis.Results:A total of 361 valid questionnaires were included in this study, and there was significant differences in the narrative competence score between different ages, professional titles, working years, income levels, and whether they wrote parallel charts ( P<0.05). The total score of narrative competence of pediatric staffs was (147.13±18.76), and positively correlated with the total resilience score and the score of each dimension ( P≤0.001). The regression analysis showed that writing parallel charts and resilience could explain 53.10% of the variation in narrative competence ( P<0.001). Conclusions:Pediatric staff's narrative competence is at low or intermediate levels. Parallel chart writing and resilience training can improve narrative competence and promote a harmonious doctor-patient relationship.

Objective:To observe the effect of abdominal electroacupuncture(EA)on intestinal function in patients with constipation after stroke. Methods:A total of 100 patients with post-stroke constipation were divided into an observation group and a control group by the random number table method,with 50 cases in each group.The control group was treated with oral lactulose,10 mL each time,3 times a day,for 2 consecutive weeks.The observation group was treated with additional abdominal EA at Tianshu(ST25),Fushe(SP13),and Daheng(SP15)on the basis of oral lactulose,30 min for needle retention each time,once a day,for 2 consecutive weeks.The total effective rate after treatment,constipation symptom score,the score of patient assessment of constipation quality of life scale(PAC-QOL),serum motilin(MTL)level,and the score of mini-mental state examination(MMSE)were compared between the two groups. Results:After 2 weeks of treatment,the total effective rate was 93.5%in the observation group and 76.1%in the control group,and the difference between the two groups was statistically significant(P<0.05).The constipation symptom score,PAC-QOL score,MMSE score,and MTL level changed significantly after treatment in both groups(P<0.05).After treatment,the constipation symptom score and PAC-QOL score in the observation group were lower than those in the control group,while the MMSE score and MLT level were higher than those in the control group,and the differences between the two groups were statistically significant(P<0.05). Conclusion:On the basis of oral lactulose,EA at abdominal points can significantly improve the intestinal and cognitive function of stroke patients simultaneously.

OBJECTIVE: To explore the effect of circ-SFMBT2 on the biological behavior of non-small cell lung cancer (NSCLC) cells and its regulatory role on the miR-7-5p/ADAM10 axis. METHODS: qRT-PCR and Western blotting were used to determine the expression of circ-SFMBT2, miR-7-5p, and ADAM10 in NSCLC tissues and adjacent tissues. Pearson analysis was used to analyze the correlation between circ-SFMBT2 and miR-7-5p, and between miR-7-5p and ADAM10. In vitro cultured human bronchial epithelial-like cells (HBE) and lung cancer cell lines H1650, H460, A549, H1299. CCK-8 and EdU methods were used to assess the ability of cell proliferation. Plate experiment was used to detect the clone formation ability. Flow cytometry was used to detect the apoptosis rate. Transwell experiment was used to detect cell invasion ability. Dual luciferase reporter experiment detects the targeting relationship between circ-SFMBT2 and miR-7-5p, and between miR-7-5p and ADAM10. Transplanted tumor experiment in nude mice assessed the effect of knocking down circ-SFMBT2 on the growth of transplanted tumor. Immunohistochemical experiments were performed to detect the positive rates of ADAM10 and Ki67 proteins in transplanted tumor tissues. RESULTS: The expression levels of circ-SFMBT2 and ADAM10 were increased in NSCLC tissues and cell lines, while decreased the expression of miR-7-5p. circ-SFMBT2 was negatively correlated with miR-7-5p, while miR-7-5p was negatively correlated with ADAM10. Silencing the overexpression of circ-SFMBT2 and miR-7-5p could inhibit cell proliferation, clone formation and invasion, and also promote apoptosis. circ-SFMBT2 could target miR-7-5p, and ADAM10 was the target gene of miR-7-5p. The combined effect of silencing circ-SFMBT2 and inhibition of miR-7-5p, as well as miR-7-5p overexpression and ADAM10 overexpression could promote cell proliferation, clone formation and invasion, and also suppress cell apoptosis. Silencing circ-SFMBT2 could inhibit the growth of transplanted tumors. CONCLUSION Silencing circ-SFMBT2 can suppress the proliferation, clone formation, invasion ability and induce apoptosis of NSCLC cells by regulating the miR-7-5p/ADAM10 axis.
ADAM10 Protein/genetics* ; Amyloid Precursor Protein Secretases/genetics* ; Animals ; Carcinoma, Non-Small-Cell Lung/genetics* ; Cell Proliferation ; Lung Neoplasms/genetics* ; Membrane Proteins/genetics* ; Mice ; Mice, Nude ; MicroRNAs/genetics* ; RNA, Circular ; Repressor Proteins

To report the clinical, imaging, and pathological feature of a rare case of central precocious puberty with primary pigmented nodular adrenocortical disease(PPNAD), and to conduct a retrospective analysis of PPNAD with relevant literatures. The pubic hair was found in the child for more than one year. Physical examination showed Cushing′s syndrome. ACTH in blood decreased, cortisol rhythm was disordered, 24-hour urine free cortisol increased and the paradoxical increase of urine free cortisol after high dose dexamethasone suppression test. Adrenal enhancement computed tomography(CT)showed multiple small nodular shadows in bilateral adrenal glands. Gonadotropin releasing hormone(GnRH)stimulation test supported central precocious puberty and GnRH analogue was used to control the sexual development. PPNAD was supported by pathology result. The symptoms of Cushing′s syndrome were relieved partially after left adrenalectomy.

Objective:To investigate the status of height and weight of 3-18-year-old children and adolescents in urban China, and to provide a basis for establishing puberty phase specific curves for age-specific height and age-specific weight.Methods:A cross-sectional survey of 218 185 children and adolescents aged 3-18 years in urban China was conducted by using the method of stratified random cluster sampling from January 2017 to December 2019. The sampling areas included 12 provinces municipalities in China and autonomous regions in total. Data were collected on weight, height, waist circumference, hip circumference and secondary sexual characteristics. The generalized additive model for location, scale, and shape (GAMLSS) was employed to establish percentile reference values and growth curves of height and weight for boys and girls aged 3-18 years. Wilcoxon rank sum test was applied to compare the P 50 value of height and weight between children of each Tanner stage and children of the same age ignoring the different puberty phase. Results:The 3rd, 50th, and 97th percentile curves for height and weight for age were developed for boys and girls aged 3-18 years. The 3rd, 50th, and 97th percentile curves for age-specific height and age-specific weight for each puberty phase were developed for boys and girls. Compared with all children ignoring the different puberty phase, boys aged 9 and over and girls aged 7 and over who are at Tanner stage 1 showed shorter height and lighter weight than those of the same age group (all P<0.01), the difference ranges of height at P 50 are -4.0 to -0.6 cm for boys, and -4.4 to 0.5 cm for girls; the difference ranges of weight are -4.8 to 0.4 kg for boys, and -4.0 to -0.3 kg for girls; children at Tanner stage 2 & 3 initially were taller and heavier than those of the same age group; and later grew shorter and lighter than those of the same age group, the two sets of curves cross over; boys aged 16 and under and girl aged under 14 who are at Tanner stage 4 were taller and heavier than those of the same age group (all P<0.01), the difference ranges of height at P 50 are 0.2 to 10.0 cm for boys, and 0.2 to 9.4 cm for girls; the difference ranges of weight at P 50 are 0.7 to 10.9 kg for boys, and 1.0 to 11.2 kg for girls, and the differences showed narrowing trend with age. Conclusion:The puberty phase specific growth curves of age-specific height and age-specific weight for boys and girls aged 3-18 years are established, it is useful for clinical work to evaluate physical development of children at different puberty phases.

OBJECTIVE: To explore the genetic basis for a child with spondyloepimetaphyseal dysplasia type 1 and joint laxity. METHODS: High-throughput sequencing and Sanger sequencing were used to analyze potential variant of the B3GALT6 gene. RESULTS: DNA sequencing has identified 2 variants of the B3GALT6 gene in the patient, namely c.694C>T and c.539_540insCCT, which were respectively derived from his father and mother. CONCLUSION The c.694C>T and c.539_540insCCT variants of the B3GALT6 gene probably underlie the disease in the patient. The result has enabled molecular diagnosis, genetic counseling and prenatal diagnosis for his family.