To investigate the mutations of NF1 and clinical phenotypes in patients with sporadic neurofibromatosis type 1 (NF1). This is aimed to evaluate the efficacy of high-throughput sequencing in diagnosing atypical cases, to expand the mutational spectrum of NF1, and to provide early diagnosis of NF1. Clinical data from 11 sporadic NF1 patients without family history treated at the Fifth Affiliated Hospital of Sun Yat-sen University (2019-2023) were collected. The mutations of NF1 gene were detected using whole-exome sequencing or chip-capture high-throughput sequencing, followed by bioinformatics analysis. Novel mutations were screened against normal population databases to exclude benign polymorphisms, and pathogenicity of the mutations was classified according to ACMG guidelines. The results showed that two novel frameshift mutations were identified: c.7904del (p.Asp2635Valfs*9) and c.5122_5123del (p.Phe1708Hisfs*9). The patient carrying c.7904del exhibited an undocumented phenotype of posterior medullary ischemic degeneration. Among the 11 NF1 patients, the types of mutations included frameshift (4/11), nonsense (3/11), intronic (2/11), splicing (1/11), and start codon variants (1/11). Common phenotypes were cafe-au-lait macules (8/11) and neurofibromas (6/11), yet significant phenotypic heterogeneity existed among patients sharing identical mutations. In conclusion, this study discovered two novel NF1 mutations and an unreported phenotype, expanding both the NF1 mutational spectra and highlights the need for attention to cerebrovascular status in patients carrying NF1 mutations. High-throughput sequencing significantly enhances molecular diagnostic efficacy for atypical NF1, providing a critical basis for clinical NF1 diagnosis.

Objective:To evaluate the clinical efficacy of transmural follicle-activating herbal medicine combined with electroacupuncture in luteinized unruptured follicle syndrome (LUFS).Methods:A randomized controlled trial (RCT) was conducted. Totally 90 LUFS patients in our hospital from November 2018 to January 2021 were selected as the observation subjects, and were divided into three groups using a random number table method, with 30 patients in each group. The Chinese materia medica group was treated with transmural follicle-activating herbal medicine, the acupuncture-medicine combination group was treated with transmural follicle-activating herbal medicine + electroacupuncture, and the Western medicine group was treated with injection of chorionic gonadotropin (hCG). The ovarian blood flow pulsatility index (PI) and resistance index (RI) of patients before and after treatment were observed. Chemiluminescence was used to detect the levels of estradiol (E 2), progesterone (P), and LH. Ovulation, pregnancy, and LUFS recurrence and adverse reactions after treatment were observed, and clinical efficacy was evaluated. Results:The total effective rate of the acupuncture-medicine combination group was 86.67% (26/30), the Chinese materia medica group was 63.33% (19/30), and the Western medicine group was 60.00% (18/30). There was a statistical significance among the three groups ( χ2=6.03, P=0.049). After treatment, there was a statistical significance in ovarian blood flow PI (1.57 ± 0.51 vs. 1.85 ± 0.56 vs. 1.90 ± 0.61, F=2.03), RI (0.48 ± 0.14 vs. 0.57 ± 0.18 vs. 0.62 ± 0.20, F=2.16) ( P<0.05); the serum E 2 [(322.60 ± 62.31) ng/L vs. (289.58 ± 55.45) ng/L vs. (291.17 ± 63.69) ng/L, F=2.26], P [(16.36 ± 4.14) μg/L vs. (13.45 ± 3.68) μg/L vs. (13.71 ± 3.50) μg/L, F=3.58], LH [(27.19 ± 5.04) IU/ml vs. (21.52 ± 4.66) IU/ml vs. (22.58 ± 4.80) IU/ml, F=3.68] levels were compared, and the differences were statistically significant ( P<0.05, P<0.01). The ovulation rate [93.33% (28/30) vs. 66.67% (20/30) vs. 63.33% (19/30), χ2=13.01] and pregnancy rate [53.33% (16/30) vs. 30.00% (9/30) vs. 26.67% (8/30), χ2=6.11], the recurrence rate of LUFS [19.23% (5/26) vs. 47.37% (9/19) vs. 55.56% (10/18), χ2=6.94] in the needle-medicine combination group, the Chinese materia medica group and the Western medicine group after treatment were significantly different ( P<0.05). During the treatment period, there was no statistical significance in the occurrence of adverse reactions among the three groups ( χ2=2.02, P=0.364). Conclusion:The transmural follicle-activating herbal medicine combined with electroacupuncture demonstrates superior efficacy in LUFS management by improving ovarian perfusion and endocrine function, with higher ovulation/pregnancy rates and lower recurrence.

Objective:To analyze the effect of joint management of type 2 diabetes mellitus (T2DM) between specialty and community under the model of National Diabetes Prevention and Control Center (DPCC).Methods:A total of 2 527 T2DM patients managed by DPCC Pingshan Center of Shenzhen from January 1, 2022 to December 31, 2024 were retrospectively included. After management, the rate of downturn, reexamination rate, blood pressure compliance rate, metabolic indicators (waist circumference, body mass index, fasting blood glucose, glycosylated hemoglobin, blood lipids) and screening rate of chronic complications of diabetes (atherosclerotic cardiovascular disease, microvascular disease, diabetic peripheral neuropathy) were analyzed. Those included 2022 ( n=564), 2023 ( n=1 477), and 2024 ( n=2 527). Results:The downturn rate in 2022, 2023 and 2024 increased year by year (22.8% vs 67.2% vs 89.9%, P<0.01), and the review rate (41.1% vs 62.2% vs 52.7%, P<0.01), complication screening rate (51.6% vs 85.3% vs 62.2%, P<0.01), blood pressure compliance rate (53.1% vs 78.0% vs 67.2%, P<0.01), body mass index compliance rate (13.2% vs 17.3% vs 28.6%, P<0.01), fasting blood glucose meeting rate (46.4% vs 60.2% vs 68.5%, P<0.01), glycated hemoglobin meeting rate (58.4% vs 63.2% vs 45.6%, P<0.01) were relatively improved. Waist circumference compliance rate (30.6% vs 27.7% vs 21.6%) and blood lipid compliance rate (33.6% vs 35.5% vs 31.9%) were not significantly improved, and the review rate, blood pressure compliance rate and complication screening rate in 2024 were lower than those in 2023 and higher than those in 2022. Conclusions:The combined management of type 2 diabetes under the DPCC model has significant effects on improving the down-conversion rate, rediagnosis rate, blood pressure compliance rate, metabolic index compliance rate and the screening rate of diabetes-related chronic complications in patients with diabetes. At the same time, it was also found that with the progress of hierarchical diagnosis and treatment, the review rate, complication screening rate, blood pressure, waist circumference, blood lipid and glycosylated hemoglobin reached the standard of patients decreased compared with the previous situation, which needs to be further analyzed and improved.

Objective:To analyze the effect of joint management of type 2 diabetes mellitus (T2DM) between specialty and community under the model of National Diabetes Prevention and Control Center (DPCC).Methods:A total of 2 527 T2DM patients managed by DPCC Pingshan Center of Shenzhen from January 1, 2022 to December 31, 2024 were retrospectively included. After management, the rate of downturn, reexamination rate, blood pressure compliance rate, metabolic indicators (waist circumference, body mass index, fasting blood glucose, glycosylated hemoglobin, blood lipids) and screening rate of chronic complications of diabetes (atherosclerotic cardiovascular disease, microvascular disease, diabetic peripheral neuropathy) were analyzed. Those included 2022 ( n=564), 2023 ( n=1 477), and 2024 ( n=2 527). Results:The downturn rate in 2022, 2023 and 2024 increased year by year (22.8% vs 67.2% vs 89.9%, P<0.01), and the review rate (41.1% vs 62.2% vs 52.7%, P<0.01), complication screening rate (51.6% vs 85.3% vs 62.2%, P<0.01), blood pressure compliance rate (53.1% vs 78.0% vs 67.2%, P<0.01), body mass index compliance rate (13.2% vs 17.3% vs 28.6%, P<0.01), fasting blood glucose meeting rate (46.4% vs 60.2% vs 68.5%, P<0.01), glycated hemoglobin meeting rate (58.4% vs 63.2% vs 45.6%, P<0.01) were relatively improved. Waist circumference compliance rate (30.6% vs 27.7% vs 21.6%) and blood lipid compliance rate (33.6% vs 35.5% vs 31.9%) were not significantly improved, and the review rate, blood pressure compliance rate and complication screening rate in 2024 were lower than those in 2023 and higher than those in 2022. Conclusions:The combined management of type 2 diabetes under the DPCC model has significant effects on improving the down-conversion rate, rediagnosis rate, blood pressure compliance rate, metabolic index compliance rate and the screening rate of diabetes-related chronic complications in patients with diabetes. At the same time, it was also found that with the progress of hierarchical diagnosis and treatment, the review rate, complication screening rate, blood pressure, waist circumference, blood lipid and glycosylated hemoglobin reached the standard of patients decreased compared with the previous situation, which needs to be further analyzed and improved.

To investigate the mutations of NF1 and clinical phenotypes in patients with sporadic neurofibromatosis type 1 (NF1). This is aimed to evaluate the efficacy of high-throughput sequencing in diagnosing atypical cases, to expand the mutational spectrum of NF1, and to provide early diagnosis of NF1. Clinical data from 11 sporadic NF1 patients without family history treated at the Fifth Affiliated Hospital of Sun Yat-sen University (2019-2023) were collected. The mutations of NF1 gene were detected using whole-exome sequencing or chip-capture high-throughput sequencing, followed by bioinformatics analysis. Novel mutations were screened against normal population databases to exclude benign polymorphisms, and pathogenicity of the mutations was classified according to ACMG guidelines. The results showed that two novel frameshift mutations were identified: c.7904del (p.Asp2635Valfs*9) and c.5122_5123del (p.Phe1708Hisfs*9). The patient carrying c.7904del exhibited an undocumented phenotype of posterior medullary ischemic degeneration. Among the 11 NF1 patients, the types of mutations included frameshift (4/11), nonsense (3/11), intronic (2/11), splicing (1/11), and start codon variants (1/11). Common phenotypes were cafe-au-lait macules (8/11) and neurofibromas (6/11), yet significant phenotypic heterogeneity existed among patients sharing identical mutations. In conclusion, this study discovered two novel NF1 mutations and an unreported phenotype, expanding both the NF1 mutational spectra and highlights the need for attention to cerebrovascular status in patients carrying NF1 mutations. High-throughput sequencing significantly enhances molecular diagnostic efficacy for atypical NF1, providing a critical basis for clinical NF1 diagnosis.

Objectives:Analyze the clinical characteristics of patients with primary antiphospholipid syndrome (PAPS) progressing to systemic lupus erythematosus (SLE).Explore the risk factors for the progression from PAPS to SLE.Methods:The clinical data of 262 patients with PAPS enrolled in Peking Union Medical College Hospital from February 2005 to September 2021 were evaluated. Assessments included demographic data, clinical manifestations, laboratory tests (serum levels of complement, anti-nuclear antibodies, anti-double-stranded DNA antibodies), treatment, and outcomes. Kaplan-Meier analysis was used to calculate the prevalence of SLE in patients with PAPS. Univariate Cox regression analysis was employed to identify the risk factors for PAPS progressing to SLE.Results:Among 262 patients with PAPS, 249 had PAPS (PAPS group) and 13 progressed to SLE (5.0%) (PAPS-SLE group). Univariate Cox regression analysis indicated that cardiac valve disease ( HR=6.360), positive anti-double-stranded DNA antibodies ( HR=7.203), low level of complement C3 ( HR=25.715), and low level of complement C4 ( HR=10.466) were risk factors for the progression of PAPS to SLE, whereas arterial thrombotic events ( HR=0.109) were protective factors ( P<0.05 for all). Kaplan-Meier analysis showed that the prevalence of SLE in patients suffering from PAPS with a disease course>10 years was 9%-15%. Hydroxychloroquine treatment had no effect on the occurrence of SLE in patients with PAPS ( HR=0.753, 95% CI 0.231-2.450, P=0.638). Patients with≥2 risk factors had a significantly higher prevalence of SLE compared with those with no or one risk factor (13-year cumulative prevalence of SLE 48.7% vs. 0 vs. 6.2%, P<0.001 for both). Conclusions:PAPS may progress to SLE in some patients. Early onset, cardiac-valve disease, positive anti-dsDNA antibody, and low levels of complement are risk factors for the progression of PAPS to SLE (especially in patients with≥2 risk factors). Whether application of hydroxychloroquine can delay this transition has yet to be demonstrated.

ObjectiveTo understand the use of antibiotics in inpatients and the incidence and trend of hospital infections， to explore the implementation effect of comprehensive management measures， and to provide reference for hospitals to use antibiotics reasonably. MethodsBased on the hospital infection monitoring and management system， a retrospective analysis and comparison were conducted on the use of antibiotics， submission of microbial test samples， and incidence of hospital infections among inpatients in a tertiary hospital from 2012 to 2021. ResultsFrom 2012 to 2021， the use of antibiotics showed a downward trend， from 50.82% in 2012 to 41.29% in 2021. At the same time， the use rate of restricted and special antibiotics had also decreased， and the use rate of restricted and special antibiotics in patients without hospital infection was significantly lower than that in patients with hospital infection， and the microbial testing rate was also on the rise. The annual incidence rate of hospital infection was 0.69%‒1.92%， and the annual case-time prevalence rate was 0.79%‒2.17%. The annual average rate of the above two in 10 years was 1.18% and 1.34%， respectively. The results of the exponential smoothing model also showed that the utilization rate of antibiotics was decreasing and the incidence of nosocomial infection was stable. ConclusionLarge general hospitals took comprehensive management measures to strengthen the management of rational use of antibiotics， which led to a decline in the use rate of antibacterial drugs for inpatients and an increase in the rate of microbial examination. At the same time， the overall incidence of hospital infection was relatively stable， suggesting that the comprehensive management measures of antibacterial drugs in hospitals had achieved certain results. The current measures need to be optimized in the future to continuously improve the management level of rational use of antibacterial drugs.

Objective We aimed to investigate the relationship between microscopic pattern of blood stasis and renal pathological grade and related physical and chemical indexes in children with Henoch-Sch?nlein purpura nephritis(HSPN).Methods We conducted a retrospective analysis of 800 HSPN children from the medical records of the First Affiliated Hospital of Henan University of Chinese Medicine.Laboratory indicators(blood routine test,urine routine test,coagulation test,liver function)and renal pathological indicators of them were collected.According to the severity of renal pathological microscopic lesions,the microscopic pattern of blood stasis was divided into three types,including choroidal discord,dead blood coagulation and intracarenal disease accumulation.The classification of renal microscopic pattern of blood stasis and the correlation between laboratory indexes and renal pathological index were analyzed by Spearman grade correlation and binary Logistic regression analysis.Results(ⅰ)There was no statistical difference of the distribution of the renal microscopic pattern of blood stasis in the different traditional Chinese medicine patterns.(ⅱ)There were significant differences in the contents or the grade of albumin and fibrinogen in the HSPN children with different microscopic pattern of blood stasis(all P＜0.05).(ⅲ)The maximum area under the receiver operating characteristic(ROC)curve between fibrinogen and intracarenal disease accumulation was 0.594(95％CI from 0.540 to 0.633,P＜0.001);sensitivity was 0.447,specificity was 0.725;the best threshold on the ROC curve of 0.172 was 3.755 g/L.(ⅳ)There were positive correlations between the content of fibrinogen,ISKDC grade and Bohle A grade respectively with the scores of intracarenal disease accumulation type(r=0.176,r=0.315,r=0.656;all P＜0.001).(ⅴ)There were positive correlations between the content of fibrinogen,ISKDC grade and Bohle A grade respectively with the renal microscopic pattern of blood stasis(r=0.157,r=0.377,r=0.429;all P＜0.001).Conclusion The microscopic renal pattern of blood stasis can not only reflect the severity of renal blood stasis,but also reflect the severity and long-term prognosis of renal diseases.Albumin and urinary protein grade can reflect the early stage of the microscopic renal pattern of the blood stasis(choroidal discord).The content of fibrinogen increases with the aggravation of renal microscopic pattern of blood stasis,reflecting the end-stage of HSPN,which has the correlation with the formation and severity of related indexes.Fibrinogen can be used as a laboratory indicator to assist in the diagnosis of irreversible lesionsin the renal pathology of HSPN children.

Objective:To study the efficacy and safety of anlotinib in the treatment of advanced radioactive iodine-refractory differentiated thyroid cancer (RAIR-DTC) and the effect of anlotinib on iodine uptake of lesions.Methods:A retrospective analysis was performed on 23 patients (10 males and 13 females, age (59.1±8.7) years) with advanced RAIR-DTC who were treated with anlotinib in Liaocheng Hospital Affiliated to Shandong First Medical University between January 2019 and February 2023 and met the enrollment criteria. Thyroid function, serum thyroglobulin (Tg) and Tg antibody (TgAb) were determined every 6 weeks during the treatment with anlotinib, and maximum diameter of target lesion (TL) was monitored by CT every 12 weeks, in order to evaluate the therapeutic efficacy, and treatment-related adverse reactions were observed. Diagnostic 131I whole body scan (Dx-WBS) was performed in some patients to evaluate the changes in iodine uptake of lesions after anlotinib treatment. In this study, the posttreatment changes of patients within 24 weeks during the treatment were analyzed. The maximum diameter of TL and Tg at different time points were compared by Friedman test, and were further compared in pairs with P values corrected by Bonferroni method. Results:After 24 weeks of treatment with anlotinib, 8 of 23 patients achieved partial response, 15 had stable disease, and no patients achieved complete response. Serum Tg levels at 6, 12, 18, 24 weeks after anlotinib treatment were 189.5(85.0, 483.3), 127.7(52.4, 319.8), 82.0(40.2, 213.5) and 80.1(39.9, 205.0) μg/L, all of which were lower than the baseline level of Tg (384.5(210.9, 1 605.0) μg/L; χ2 values: 4.23-7.86, all P<0.001). Tg level at 18 weeks after treatment was statistically different from that at 12 weeks after treatment ( χ2 =3.06, P<0.001), but was not statistically different from that at 24 weeks after treatment ( χ2 =12.57, P=0.059). The maximum TL diameters of lung and cervical lymph nodes were significantly reduced at week 12 and 24 of anlotinib treatment compared with baseline ( χ2 values: 14.76-31.12, all P<0.001), while there was no significant difference in TL maximum diameter at 12 and 24 weeks of treatment ( χ2 values: 5.65, 9.02, P values: 0.314, 0.070). Common adverse reactions included hypertension, hand-foot syndrome, hyperacylglyceremia and proteinuria. No adverse reactions above grade 4 or death related to adverse reactions occurred. Dx-WBS evaluation was performed in 7 patients after anlotinib treatment, and no change in iodine uptake was found. Conclusions:Anlotinib has a clear effect on advanced RAIR-DTC with less adverse reactions. The efficacy of anlotinib reaches the strongest at around 12-18 weeks and becomes stable at 24 weeks. No effect of anlotinib on inducing redifferentiation of RAIR-DTC cells and enhancing iodine uptake is found.

Objective:To analyze a Risk Scale for Emergence Agitation After General Anesthesia in Children (the EA risk scale) into simplified Chinese and evaluate the reliability and validity in children with strabismus correction surgery.Methods:After obtaining the authorization of the original author, the English version of the EA risk scale was translated, translated back and culturally debugged to form the Chinese version of the EA risk scale. Then 279 children with strabismus correction surgery were selected from a tertiary hospital of ophthalmology in Tianjin and were investigated to validate the scale.Results:The correlation coefficients of each item and the total score of the scale were respectively 0.768 (item 1) ,0.717(item 2), 0.676(item 3), 0.634(item 4) (all P < 0.01). Content validity index of the scale was 0.920, and each item was 0.80-1.00. One factors including 4 items were identified using exploratory factor analysis, accounting for 62.052% of the total variance. The optimal cut-off value for the EA risk in children was 10, with the AUG was 0.816, specificity of 0.704, and sensitivity of 0.839. The Cronbach α coefficient for the total scale was 0.819, and the intraclass correlation coefficient value between the scorers was 0.835. Conclusion:The Chinese version of the EA risk scale has good reliability and validity. The items are concise, clear, and easy to understand. It is suitable for clinical departments as a preliminary screening tool to identify emergence agitation after general anesthesia on children with strabismus correction surgery and to assess the risk of its occurrence.