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 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.

Polycystic ovary syndrome(PCOS)is one of the most common gynecological endocrine disorders.Most pathophysiological changes of PCOS begin in the peripubertal phase,and these pathophysiological changes will continuously affect women's health in the later stages of their lives.The pathogenic mechanisms of PCOS remain unclear,involving key aspects such as the regulation of hypothalamic-pituitary function,ovarian cellular functions,androgen levels,and insulin resistance.Herein,we summarized the latest findings on the pathogenesis of PCOS from the perspectives of the genetic background,intrauterine development,neuroendocrine function,inflammatory factors,gut microbiome,and environmental factors.This review will help provide new ideas for a deeper understanding of the disease,as well as its clinical diagnosis and treatment.

Objective:To investigate the association between serum zinc levels and convulsive brain injury in infants with mild gastroenteritis complicated with benign infantile seizures (BICE) and febrile seizures (FC).Methods:A case-control study method was conducted. 120 children with mild gastroenteritis and convulsion admitted to the First Affiliated Hospital of Hebei North University from January 2020 to January 2022 were enrolled as the research subjects. They were divided into BICE group and FC group according to the type of convulsion. The serum zinc level, the frequency and duration of convulsion, and the occurrence of convulsive brain injury in the two groups were recorded. Multivariate Logistic regression analysis was used to screen the risk factors for convulsive brain injury. The Spearman correlation method was used to analyze the association between serum zinc levels, clinical characteristics of convulsion and convulsive brain injury.Results:A total of 120 children were enrolled, of which 81 developed to BICE and 39 developed to FC during hospitalization. The serum zinc level of children in the FC group was significantly lower than that in the BICE group (μmol/L: 39.24±6.50 vs. 48.65±7.21, P < 0.01). In the BICE group and FC group, the serum zinc level in children with more than 2 convulsions was significantly lower than that in the children with one convulsion (μmol/L: 37.65±6.50 vs. 53.17±7.55 in the BICE group, and 30.27±5.58 vs. 44.16±7.57 in the FC group, both P < 0.01). Serum zinc level in children with convulsion duration ≥5 minutes was significantly lower than that in the children with convulsion duration < 5 minutes (μmol/L: 38.75±6.74 vs. 51.21±7.58 in the BICE group, and 31.08±5.46 vs. 45.19±7.25 in the FC group, both P < 0.01). Moreover, the serum zinc level of children with different convulsion frequency and duration in the FC group was significantly lower than that in the BICE group (all P < 0.01). Among the 120 children, 9 cases of convulsive brain injury occurred, and the incidence rate was 7.50%. The incidence of convulsive brain injury in the BICE group was 1.23% (1/81), which was significantly lower than 20.51% in the FC group (8/39, P < 0.01). The serum zinc level of children with convulsive brain injury was significantly lower than that of children with non-brain injury (μmol/L: 28.50±5.00 vs. 60.22±7.31, P < 0.01), and the number of convulsion was significantly higher than that of non-cerebral injury (≥ 2 convulsions: 100.00% vs. 1.80%, P < 0.01), and the duration of convulsion in children with brain injury was significantly longer than that of non-brain-injured children (convulsion duration ≥5 minutes: 100.00% vs. 11.71%, P < 0.01). Multivariate Logistic regression analysis showed that decreased serum zinc level [odds ratio ( OR) = 2.147, 95% confidence interval (95% CI) was 1.354-3.403], increased number of convulsion ( OR = 3.452, 95% CI was 1.266-9.417), and prolonged convulsion duration ( OR = 3.117, 95% CI was 1.326-7.327) were independent risk factor for convulsive brain injury in children with mild gastroenteritis and convulsion (all P < 0.05). Spearman correlation analysis showed that serum zinc level, convulsion ≥2 times, duration of convulsion ≥5 minutes and convulsion ≥2 times + convulsion duration ≥5 minutes were significantly negatively correlated with the occurrence of convulsive brain injury in FC children ( r values were -0.546, -0.517, -0.522, and -0.528, all P < 0.01). There was no significant correlation between serum zinc level, convulsion ≥2 times, convulsion duration ≥5 minutes and convulsion ≥2 times+convulsion duration ≥5 minutes and convulsive brain injury in BICE children ( r values were -0.281, -0.129, -0.201, -0.243, all P > 0.05). Conclusions:Serum zinc level is related to the characteristics of convulsive symptoms in children with mild gastroenteritis complicated with FC, and has a strong negative correlation with the occurrence of convulsive brain injury. Active targeted intervention and treatment may help reduce the incidence of brain injury in children.

Objective To investigate the relatio nship between the DNA methylation status of gluco-corticoid receptor (GR) gene promoter and mRNA expression level of GRα gene of peripheral blood mononuclear cells (PBMCs) in patients with systemic lupus erythematosus (SLE). Methods Fifteen new onset SLE patients and fifteen healthy controls were enrolled in this study. The DNA methylation status of GR gene promoter 1 of PBMCs was detected through bisulfite sequencing polymerase chain reaction (PCR). The mRNA expression of GRα, DNA methyltransferases, growth arrest and DNA damage-induced 45α (GADD45α) of PBMCs was detected using the quantitative real-time polymerase chain reaction method. T-test and χ2-test were used to detect the differences between the two groups, Pearson's correlation coefficient was used to analyze the linear correlation between two variables. Results Compared with healthy controls, the mRNA expression of GRα was signi-ficantly declined in SLE patients (10±5, 17±7, t=2.69, P<0.05), and the mRNA expression of DNMT1 and GADD45α was significantly elevated in SLE patients (t=3.11, P<0.05 and t=2.98, P<0.05). The overall mean methylation status of the 142 CpG islands of the four promoters was significantly elevated in SLE patients [(16±8)%vs (11±6)%, t=2.75, P<0.05]. The global methylation status of PBMCs in SLE patients was obviously lower than healthy controls (t=4.39, P<0.05). Conclusion Hypermethylation of GRα promoter may result in GRαgene low expression in PBMCs of patients with SLE.

In the traditional identification of pathological voice, linear analysis techniques are usually used to analyze the characteristics of voice, and the linear classical model is often considered to be approximate to of the real voice production process. However, this must have ignored the nonlinear characteristics of voice in the actual generation process. In the paper, based on the nonlinear dynamics analysis method, the pathological voice is analyzed quantitatively and 7-dimensional nonlinear features, Hurst parameter, time delay, the second-order Rényi entropy, Shannon entropy, correlation dimension, Kolmogorov entropy and the largest Lyapunov e exponent are extracted. The experimental results showed that the method of nonlinear dynamics could compensate the deficiencies of the traditional methods, and could analyze normal and pathological voice well. Gaussian mixture model (GMM) and support vector machine (SVM) methods for pattern recognition were used to discriminate the test set including 39 cases of normal and 36 cases of pathological voice, and a better recognition rate is received, 97.22% and 97.30% for each of the mentioned normal and pathological cases, respectively.
Adolescent ; Adult ; Female ; Humans ; Male ; Middle Aged ; Nonlinear Dynamics ; Normal Distribution ; Pattern Recognition, Automated ; Support Vector Machine ; Voice Disorders ; diagnosis ; Young Adult