Objective:To analyze the clinical features and diagnostic process of ring chromosome syndrome.Methods:Clinical data of 9 children with ring chromosome syndrome who were treated at the Children′s Medical Center of Peking University First Hospital from September 2009 to May 2025, were summarized and analyzed in a case series study. The data included clinical manifestations, types of epileptic seizures, genetic testing, treatment outcomes, and follow-up results, et al.Results:Among the 9 children with ring chromosome syndrome, there were 6 girls and 3 boys, including 4 children with ring chromosome 20 syndrome, 3 children with ring chromosome 14 syndrome, and 1 child each with ring chromosome 13 and 17 syndrome. All 9 children had de novo chromosomal variations. Among them, 3 children of ring chromosome 20 syndrome were mosaic, and the remaining 6 children were non-mosaic. All 9 children exhibited diverse clinical features, especially those with ring chromosome 20 syndrome, which presented with specific manifestations. The 4 children with ring chromosome 20 syndrome all had acute epileptic seizures as the initial symptom, with onset ages of 67, 39, 17, and 96 months, and all had focal seizures. One child with ring chromosome 20 syndrome had non-convulsive status epilepticus. Development of all 4 children with ring chromosome 20 syndrome was normal before seizure onset, but 3 children showed regression after onset. No physical deformities were observed in 4 children with ring chromosome 20 syndrome, and 2 children were misdiagnosed, 3 children underwent whole exome sequencing and copy number variation analysis in their families, with no abnormalities detected. All 4 children with ring chromosome 20 syndrome were diagnosed through chromosomal karyotype analysis, the intervals between onset and diagnosis were 2, 81, 19 and 13 months, respectively. Follow-up showed that epileptic seizures were not controlled in all 4 children with ring chromosome 20 syndrome. The other 5 children were characterized by developmental delay as the initial symptom, followed by epileptic seizures between 3 and 24 months of age. Developmental regression of the other 5 children did not occur after onset, 2 of them had microcephaly, and 3 had wide-set eyes. No misdiagnoses were reported in these 5 children, and the intervals between onset and diagnosis were 7, 3, 55, 3, and 106 months, respectively. Follow-up showed that epileptic seizures were controlled in these 5 children. Conclusions:Ring chromosome 20 syndrome typically manifest with epilepsy as the initial symptom and are refractory to drug treatment, their early development is entirely normal. Ring chromosome 13, 14, and 17 syndrome are characterized by developmental delay from an early age, followed by the onset of epileptic seizures, which are easily controlled. Conventional whole exome sequencing and copy number variation analysis in families rarely detect ring chromosome abnormalities. Early chromosomal karyotype analysis is essential for the diagnosis of ring chromosome syndrome.

Objective:To analyze the clinical features and diagnostic process of ring chromosome syndrome.Methods:Clinical data of 9 children with ring chromosome syndrome who were treated at the Children′s Medical Center of Peking University First Hospital from September 2009 to May 2025, were summarized and analyzed in a case series study. The data included clinical manifestations, types of epileptic seizures, genetic testing, treatment outcomes, and follow-up results, et al.Results:Among the 9 children with ring chromosome syndrome, there were 6 girls and 3 boys, including 4 children with ring chromosome 20 syndrome, 3 children with ring chromosome 14 syndrome, and 1 child each with ring chromosome 13 and 17 syndrome. All 9 children had de novo chromosomal variations. Among them, 3 children of ring chromosome 20 syndrome were mosaic, and the remaining 6 children were non-mosaic. All 9 children exhibited diverse clinical features, especially those with ring chromosome 20 syndrome, which presented with specific manifestations. The 4 children with ring chromosome 20 syndrome all had acute epileptic seizures as the initial symptom, with onset ages of 67, 39, 17, and 96 months, and all had focal seizures. One child with ring chromosome 20 syndrome had non-convulsive status epilepticus. Development of all 4 children with ring chromosome 20 syndrome was normal before seizure onset, but 3 children showed regression after onset. No physical deformities were observed in 4 children with ring chromosome 20 syndrome, and 2 children were misdiagnosed, 3 children underwent whole exome sequencing and copy number variation analysis in their families, with no abnormalities detected. All 4 children with ring chromosome 20 syndrome were diagnosed through chromosomal karyotype analysis, the intervals between onset and diagnosis were 2, 81, 19 and 13 months, respectively. Follow-up showed that epileptic seizures were not controlled in all 4 children with ring chromosome 20 syndrome. The other 5 children were characterized by developmental delay as the initial symptom, followed by epileptic seizures between 3 and 24 months of age. Developmental regression of the other 5 children did not occur after onset, 2 of them had microcephaly, and 3 had wide-set eyes. No misdiagnoses were reported in these 5 children, and the intervals between onset and diagnosis were 7, 3, 55, 3, and 106 months, respectively. Follow-up showed that epileptic seizures were controlled in these 5 children. Conclusions:Ring chromosome 20 syndrome typically manifest with epilepsy as the initial symptom and are refractory to drug treatment, their early development is entirely normal. Ring chromosome 13, 14, and 17 syndrome are characterized by developmental delay from an early age, followed by the onset of epileptic seizures, which are easily controlled. Conventional whole exome sequencing and copy number variation analysis in families rarely detect ring chromosome abnormalities. Early chromosomal karyotype analysis is essential for the diagnosis of ring chromosome syndrome.

Objective:To investigate the relationship between C3, C4, Th1/Th2 levels and the Myasthenia Gravis Daily Living Scale (MG-ADL) score in patients with myasthenia gravis (MG) and its efficacy in predicting the transition of ocular muscle type to systemic type.Methods:A retrospective study of 94 patients with ophthalmic MG admitted to Haikou People's Hospital from April 2017 to April 2020 was conducted. According to whether they had converted to systemic MG within 6 months, they were divided into transformation group ( n=35) and non-transformation group ( n=59). The levels of C3, C4 and Th1/Th2, as well as the score of MG-ADL and Quantitative Myasthenia Gravis (QMG) were compared between the two groups before and 1 and 3 months after treatment. The correlation between C3, C4 and Th1/Th2 levels and MG-ADL and OMG scores, as well as the related influencing factors of the transformation from ocular muscle type to systemic type was analyzed. The efficiency of each index in predicting the transformation from ocular muscle type to systemic type was analyzed. Results:At 1 and 3 months after treatment, the C3 and C4 in both groups were significantly higher than before treatment, and Th1/Th2 was significantly lower than before treatment; the C3 and C4 in the non-transformation group were higher than that in the transformation group, while Th1/Th2 was lower than that in the transformation group (all P<0.05). The MG-ADL and QMG scores in 2 groups at 1 and 3 months after treatment were significantly lower than those before treatment, and those in the non-transformation group were lower than those in the transformation group (all P<0.05). C3 and C4 levels were negatively correlated with MG-ADL and QMG scores (all P<0.05), while Th1/Th2 levels were positively correlated with MG-ADL and QMG scores (all P<0.05). At 1 and 3 months after treatment, C3, C4 and Th1/Th2 were the influencing factors for the transformation from ocular muscle type to systemic type (all P<0.05). The area under the curve (AUC) of C3, C4 and Th1/Th2 combined to predict the transformation from ocular muscle type to systemic type at 3 months after treatment was 0.939, and the best predictive sensitivity and specificity were 91.43% and 88.14%, respectively. Conclusions:There is a good linear relationship between C3, C4, Th1/Th2 levels and MG-ADL scores in MG patients, and it has a high efficiency in predicting the transition of ocular muscle type to systemic type.

Objective:To investigate the correlation between serum neutrophil to lymphocyte ratio (NLR), thrombospondin 1 (TSP-1), miR-210 and systemic lupus erythematosus disease activity index (SLEDAI) and the prognostic value of their combination.Methods:The medical records of 126 patients with systemic lupus erythematosus (SLE) in Haikou People′s Hospital (Haikou Hospital Affiliated to Xiangya Medical College of Central South University) from February 2018 to February 2020 were retrospectively analyzed. According to the recurrence of prognosis 6 months after treatment, they were divided into recurrence group ( n=23) and non recurrence group ( n=103). The general data, serum NLR, TSP-1, miR-210 levels and SLEDAI score before and after treatment of the two groups were compared. The relationship between the levels of serum indicators before and after treatment, SLEDAI score, prognosis and recurrence of SLE patients were analyzed, and the efficacy of single and combined serum indicators in predicting prognosis was explored. Results:The levels of serum NLR, TSP-1, miR-210 and SLEDAI score in the recurrence group were higher than those in the non recurrence group before and after treatment (all P<0.05); After treatment, the levels of serum NLR, TSP-1, miR-210 and SLEDAI score in the two groups were lower than those before treatment (all P<0.05). Pearson correlation analysis showed that the levels of serum NLR, TSP-1 and miR-210 in SLE patients were positively correlated with SLEDAI scores (all P<0.05); Cox regression analysis showed that after adjusting other factors such as complement C3, complement C4 levels and SLEDAI scores before and after treatment, serum NLR, TSP-1 and miR-210 before and after treatment were still significantly correlated with the risk of recurrence in SLE patients (all P<0.05); The receiver operating characteristic (ROC) curve showed that the area under curve (AUC) of serum NLR, TSP-1 and miR-210 combined to predict recurrence was 0.907 (95% CI: 0.842-0.951), the sensitivity was 86.96%, and the specificity was 83.50%, which was significantly higher than that of each index alone. Conclusions:Serum NLR, TSP-1, miR-210 levels in SLE patients are positively correlated with SLEDAI scores, and the combined detection of these indicators has a high predictive value for prognosis and recurrence, which can provide references for the diagnosis and treatment of SLE.

Objective:To explore the clinical manifestations and surgical outcomes of pediatric epilepsy patients with epileptic spasms (ES) as the main form of seizure, so as to analyze the correlative factors with prognosis and improve the understanding of the operation and preoperative positioning for such patients.Methods:The clinical data of patients with ES who underwent surgery therapy from June 2014 to December 2015 in Pediatric Epilepsy Center, Peking University First Hospital were collected and retrospectively analyzed.Demographic characteristics, seizure forms, etiology, electroencephalogram (EEG), cranial magnetic resonance imaging (MRI), operative methods, pathological findings as well as surgical outcomes evaluated by Engel classification during follow-up of the subjects were collected.Correlative factors with the prognosis were explored by comparing the data between patients with optimal outcome (Engel Ⅰ) and those with poor outcomes (Engel Ⅱ-Ⅳ).Results:A total of 25 pediatric patients were enrolled, including 16 males (64.0%) and 9 females (36.0%). The age of onset was (0.81±0.68) years, the age at operation was (2.98±1.63) years, and the course of disease was (2.17±1.48) years.Besides, 84.0% (21/25 cases) of the ES patients had multiple forms of seizures and partial seizure (19 cases) was the most common.MRI of the heads of all the children showed definite lesions, including 11 patients (44.0%) with lesions limited to one brain lobe and 14 patients (56.0%) involving multiple brain lobes or hemisphere.The most common etiology was focal cortical dysplasia (13 cases), followed by intracranial developmental tumors (3 cases). All patients underwent resection surgery, including resection of lesion (3 cases), single brain lobe resection (9 cases), multiple brain lobe dissection (3 cases) and hemisphere dissection (10 cases). During a follow-up period of 4.0 to 5.5 years, 1 patient was lost.Among the remaining 24 cases, 18 (75.0%) cases achieved good outcomes and wee classified as EngelⅠ, 2 cases (8.3%) and 4 cases(16.7%) were classified as Engel Ⅱand Ⅳ, respectively.The univariate comparison between the good epilepsy prognosis group and the poor epilepsy prognosis group showed that, patients whose EEG abnormalities are consistent with the anatomical lesions during the inter ictal tend to have good prognosis( P=0.006). Conclusions:(1) Optimal therapeutic effects were observed in ES patients with definite lesions treated by surgical therapy.(2) Interictal EEG consistent with the lesion side may suggest a good prognosis for surgical treatment.(3) Structural causes should be screened as soon as possible if a patient with ES is drug-refractory and presents clues of focal origin.

Objective:To explore the effect of comprehensive mode combining the concept of fast track surgery-clinical nursing path (FTS-CNP) on the perioperative treatment of obstetrics.Methods:A total of 60 patients who underwent cesarean section in our hospital from April 2015 to March 2017 were selected and divided into the control group and the observation group according to the random number table method. The control group patients received conventional perioperative management, and the observation group underwent FTS-CNP management mode, recording postoperative feeding time, postoperative activity time, hospitalization time, complication rate, and physical and mental health score values.Results:The eating time, postoperative activity time, length of stay, and complication rate in the observation group were (0.52 ± 0.15)days, (1.17 ± 0.38)days, (5.43 ± 0.90)days, and 0, and the control group were (1.54 ± 0.24)days, (2.19 ± 0.58)days, (7.80 ± 0.80)days, and 40%(12/30). There was a statistical difference between the two groups ( t value was 11.40, 4.64, 6.23, χ2 value was 13.33, P <0.05). Physiological and mental health of the observation group after cesarean section The scores were 152.21 ± 5.15 and 127.23 ± 2.38, and the control group was 115.14 ± 2.24 and 101.92 ± 2.58. There was also a statistical difference between the two groups ( t value was 11.21, 14.04, P<0.05). Conclusions:FTS group management mode can provide obstetrics perioperative patients with quality and efficient services, which is hopeful to achieve good social and economic benefits.

Objective:To explore the distribution of serum TRAb IgG subtypes in patients with thyroid-associated ophthalmopathy(TAO) at different stages and its value in assessing TAO activity.Methods:Forty-three patients with TAO, 30 patients with Graves′ disease (GD group), 19 patients with Hashimoto′s thyroiditis (HT group), and 50 healthy subjects (NC group)admitted to the First Affiliated Hospital of Zhengzhou University were collected from August 2018 to February 2019. According to the clinical activity score (CAS), the patients with TAO were further divided into the active period group (AP group, CAS≥3 points, 22 cases) and the inactive period group (IP group, CAS<3 points, 21 cases). The basic clinical data of subjects in each group were collected. The serum concentrations of FT 3, FT 4, TSH, thyroperoxidase antibody (TPOAb), thyroglobulin antibody (TgAb), and thyroid-stimulating hormone receptor antibody (TRAb) were detected by chemiluminescence immunoassay and the binding rate in percentage (B) of serum TRAb IgG and IgG subtypes were detected by ELISA. The positive rate in each group and relative content of positive samples were compared. Results:(1)Compared with HT group, the positive rates of IgG1 and IgG2 in TAO group and GD group were significantly decreased ( P<0.05). There was no significant difference in the relative content of positive TRAb IgG subtype among these disease groups ( P>0.05). (2)Compared with the IP group, IgG1(B) and the positive rates of IgG1 in the AP group were increased while IgG4(B) and the relative contents of IgG4 were reduced ( P<0.05). (3)IgG1(B)was positively correlated with TAO activity ( B=6.190, P=0.007), and higher IgG4(B)indicated more inclinations to the inactive period ( B=-16.390, P=0.052). (4) The area under the curve of receiver operating characteristic (ROC) for TAO developing into active period assessed by activity rate was 0.859 (95% CI 0.746-0.973, P<0.05). When the activity rate was 4.29, the Jordon index showed the largest, with sensitivity of 81.8% and specificity of 81.0%. Conclusions:Elevated levels of TRAb IgG1 in the patients with TAO indicate a tendency to active period, while elevated levels of TRAb IgG4 indicate a tendency to inactive period. The activity rate can provide a reference for assessing whether TAO is active or not.

Objective To systematically evaluate the prognostic significance of lymphovascular invasion (LVI) in pT1 stage bladder urothelial carcinoma with squamous differentiation. Methods The clinical and patholog-ical data of 105 patients with pT1 stage urothelial carcinoma with squamous differentiation and transurethral resec-tion of bladder tumor (TURBT) were retrospectively analyzed. Hematoxylin-eosin staining and immunohistochemical staining were used to determine the presence of LVI in tumor tissues. All patients were divided into LVI-negative group and LVI-positive group according to LVI. The relationship between LVI and clinicopathological features and 5-year cancer-specific survival (CSS) rate was analyzed. Patients with relapse were divided into TURBT group and radi-cal cystectomy (RC) group according to the surgical method, and the effects of the methods on CSS were compared. Results There are 57 patients (27.6％) had LVI. In the LVI-negative group, the 5-year CSS was 84.9％, while that in the LVI-positive group was 58.4％, the difference was statistically significant(P<0.05). Univariate analysis showed that tumor multiple appearance, tumor size, recurrence and LVI were significantly correlated with CSS (all P<0.05). Multivariate analysis showed that tumor size and LVI had significant effects on CSS (all P<0.05). In the relapsed pa-tients with LVI-positive, RC had a higher CSS than TURBT (P=0.042). In the relapsed patients with LVI-negative, the difference between the two methods was not statistically significant (P=0.692). Conclusions LVI is an important prognostic factor in pT1 stage urothelial carcinoma with squamous differentiation. Patients with LVI and tumor size>3 cm have a higher risk of death. Patients with pT1 stage urothelial carcinoma with squamous differentiation, espe-cially those with LVI, should be treated with RC as soon as possible.

Objective To analyze the problems existing in the implementation of the hierarchical medical system in China under the new situation .Methods The Smith policy implementation process model was used as an analytic framework.By means of literature analysis ,stakeholder analysis and PEST analysis ,the analysis was conducted in terms of such elements as the Smith policy implementation process model ,namely ,the idealized policy ,the implementing organization ,the target group and the environmental factors ,as well as its mechanism of action .Results The literature review found that the main obstacle that hinders the smooth implementation of the hierarchical medical system was the lagging of relevant supporting measures ,which accounted for 16.6％ (161)of the problems.In addition ,defects in policy design(the lack of division and cooperation mechanism etc .)and constraints in existing institutional mechanism (separation of revenue and expenditure ,unclear orientation ,etc .) were suggested to accelerate the introduction of supporting policies ,respectively accounting for 6.0％(58) and 9.3％ (90 ) of the results .Conclusions In the process of policy implementation ,the relationship between the four elements of the ideal policy outcomes ,the implementing organization ,the target group and the environmental factors needs to be coordinated to ensure the effective implementation of the hierarchical medical system .

Objective To study the predictive value of magnetic resonance imaging (MRI),positron emission computed tomography (PET)and PET/MRI coregistration in intractable epilepsy of children.Methods A retrospec-tively analysis was performed based on the surgery data at the Department of Children Epilepsy Center of Peking Univer-sity First Hospital from September 2015 to March 2016.The clinical data,surgery and follow－up study data,interictal and ictal electroencephalogram,MRI,PET and PET/MRI coregistration data were collected.By comparison with the epi-leptogenic zone designed by pre－surgical workup,the accuracy of MRI,PET and PET/MRI coregistration in detecting lesion was assessed.In the patients who had no seizure during≥1 year follow－up,their sensitivity,specificity,positive predictive value,negative predictive value of MRI,PET and PET/MRI coregistration were calculated.Results (1)A total of 62 patients underwent surgery,30 boys and 32 girls. The average age on epilepsy onset was 2. 50 years (2 days－11.70 years),and average age on surgery was 5.10 years old(0.75－15.60 years old).(2)Surgical treat-ment of 62 cases included the resection of the focal or lobar (32 cases,51.6%),and the multilobar (16 cases, 25. 8%).Hemispherotomy was done in 14 cases (22.6%).During ≥1 year follow－up,seizure outcome was Engel class Ⅰ in 57 cases (91.9%)out of the 62 patients,Engel classⅡto Engel classⅣin 1 case,3 cases,and 1 case, respectively.(3)Referred to epileptogenic zone designed by presurgical workup,MRI represented 64.5%(40/62 ca-ses)results with accordance,PET and PET/MRI coregistration was 72.5%(45/62 cases)and 85.5%(53/62 cases), respectively,and the difference was significant(χ2＝7.25,P＝0.03).(4)Based on the patients of Engel class Ⅰ, their sensitivity and specificity were 66.7%,60.0% in MRI,75.4%,60.0% in PET %,and 85.9%,80.0% in PET/MRI coregistration,respectively.(5)There were 11 ＂non－lesion＂ cases of all focal cortical dysplasia in patholo-gy,and subtle structural abnormalities were de tected in 9 cases by reviewing MRI.Conclusions PET/MRI coregistra-tion can improve lesion detection of intractable epilepsy in children.