Objective:To summarize the clinical and genetic characteristics of pseudoachondroplasia and multiple epiphyseal dysplasia caused by COMP gene variants in pediatric patients.Methods:This retrospective study concluded 15 pediatric patients with COMP-related pseudoachondroplasia and multiple epiphyseal dysplasia at Shanghai Children′s Medical Center, Shanghai Jiao Tong University School of Medicine from July 2013 to August 2024. This paper analyzed clinical manifestations, laboratory findings and genetic testing.Results:This cohort comprised 15 pediatric patients (8 males and 7 females) with a diagnostic age of 5.3 (1.8,9.3) years. The major clinical presentations included abnormal gait (15/15), brachydactyly (11/15), genu varum (12/15), irregular metaphyseal changes (14/14) and epiphyseal dysplasia (14/14). Genetic analysis revealed 13 cases of pseudoachondroplasia and 2 multiple epiphyseal dysplasias cases associated with COMP gene variants. Fifteen variants were identified (8 pathogenic and 7 likely pathogenic), including 2 novel variants (c.1223A>G, c.1378G>C). Thirteen of these patients had variations clustered in exons 8-14 encoding the calmodulin-like domains, with c.1414_1419dupGACGAC emerging as a hotspot variant.Conclusions:COMP-related pseudoachondroplasia and multiple epiphyseal dysplasia predominantly manifest with gait abnormalities and skeletal deformities. COMP gene pathogenic variations were mainly located in calmodulin-like domains.

Objective:To explore the mediating effect of dyadic coping between perceived social support and family cohesion and adaptability and happiness in spouses of patients with post-stroke motor impairments.Methods:From December 2023 to May 2024, a total of 366 spouses of patients with post-stroke motor impairments who received treatment at the First Affiliated Hospital of Zhengzhou University were recruited as study participants. Data were collected using the general information, perceived social support scale, dyadic coping inventory, Chinese version of the family cohesion and adaptability scale(FACESⅡ-CV), and memorial University of Newfoundland scale of happiness. The AMOS 21.0 software was utilized to construct a structural equation model to examine the mediating effect of dyadic coping between perceived social support, family cohesion and adaptability and happiness.Results:The spouses of patients with post-stroke motor impairments reported overall scores for perceived social support (62.80±12.80), dyadic coping (117.07±20.78), family cohesion and adaptability (115.96±19.51), and happiness (22.27±7.29). Family cohesion and adaptability was positively correlated with dyadic coping and perceived social support ( r=0.614, 0.520, both P<0.01).Spousal happiness was positively correlated with dyadic coping and perceived social support ( r=0.296, 0.202, both P<0.01).The spouses recognized that perceived social support had a positive correlation with dyadic coping ( r=0.479, P<0.01).Dyadic coping played a partial mediating effect between perceived social support and family cohesion and adaptability as well as happiness, accounting for 32.41% (0.211/0.651) and 44.39% (0.190/0.428) of the total effect, respectively. Conclusion:Dyadic coping is the mediating variable of family cohesion, adaptability and happiness of spouses of patients with post-stroke motor impairments. Medical staff should try to construct a dyadic coping intervention plan to improve the dyadic coping level of spouses of patients with post-stroke motor impairments, so as to improve their family happiness index.

Objective:To summarize the clinical and genetic characteristics of pseudoachondroplasia and multiple epiphyseal dysplasia caused by COMP gene variants in pediatric patients.Methods:This retrospective study concluded 15 pediatric patients with COMP-related pseudoachondroplasia and multiple epiphyseal dysplasia at Shanghai Children′s Medical Center, Shanghai Jiao Tong University School of Medicine from July 2013 to August 2024. This paper analyzed clinical manifestations, laboratory findings and genetic testing.Results:This cohort comprised 15 pediatric patients (8 males and 7 females) with a diagnostic age of 5.3 (1.8,9.3) years. The major clinical presentations included abnormal gait (15/15), brachydactyly (11/15), genu varum (12/15), irregular metaphyseal changes (14/14) and epiphyseal dysplasia (14/14). Genetic analysis revealed 13 cases of pseudoachondroplasia and 2 multiple epiphyseal dysplasias cases associated with COMP gene variants. Fifteen variants were identified (8 pathogenic and 7 likely pathogenic), including 2 novel variants (c.1223A>G, c.1378G>C). Thirteen of these patients had variations clustered in exons 8-14 encoding the calmodulin-like domains, with c.1414_1419dupGACGAC emerging as a hotspot variant.Conclusions:COMP-related pseudoachondroplasia and multiple epiphyseal dysplasia predominantly manifest with gait abnormalities and skeletal deformities. COMP gene pathogenic variations were mainly located in calmodulin-like domains.

This study surveyed 77 students and 38 teachers to analyze the current situation of comprehensive satisfaction with training in the traditional cardiopulmonary resuscitation courses. The results showed that teachers and students were not satisfied with the training effectiveness of the existing courses, especially in terms of teaching equipment and teaching environment. By further integrating the application advantages of virtual reality technology, the study outlined the system architecture design and detailed design ideas, and explored the feasibility of designing a cardiopulmonary resuscitation training system based on virtual simulation technology.

This study surveyed 77 students and 38 teachers to analyze the current situation of comprehensive satisfaction with training in the traditional cardiopulmonary resuscitation courses. The results showed that teachers and students were not satisfied with the training effectiveness of the existing courses, especially in terms of teaching equipment and teaching environment. By further integrating the application advantages of virtual reality technology, the study outlined the system architecture design and detailed design ideas, and explored the feasibility of designing a cardiopulmonary resuscitation training system based on virtual simulation technology.

Objective:To explore the mediating effect of dyadic coping between perceived social support and family cohesion and adaptability and happiness in spouses of patients with post-stroke motor impairments.Methods:From December 2023 to May 2024, a total of 366 spouses of patients with post-stroke motor impairments who received treatment at the First Affiliated Hospital of Zhengzhou University were recruited as study participants. Data were collected using the general information, perceived social support scale, dyadic coping inventory, Chinese version of the family cohesion and adaptability scale(FACESⅡ-CV), and memorial University of Newfoundland scale of happiness. The AMOS 21.0 software was utilized to construct a structural equation model to examine the mediating effect of dyadic coping between perceived social support, family cohesion and adaptability and happiness.Results:The spouses of patients with post-stroke motor impairments reported overall scores for perceived social support (62.80±12.80), dyadic coping (117.07±20.78), family cohesion and adaptability (115.96±19.51), and happiness (22.27±7.29). Family cohesion and adaptability was positively correlated with dyadic coping and perceived social support ( r=0.614, 0.520, both P<0.01).Spousal happiness was positively correlated with dyadic coping and perceived social support ( r=0.296, 0.202, both P<0.01).The spouses recognized that perceived social support had a positive correlation with dyadic coping ( r=0.479, P<0.01).Dyadic coping played a partial mediating effect between perceived social support and family cohesion and adaptability as well as happiness, accounting for 32.41% (0.211/0.651) and 44.39% (0.190/0.428) of the total effect, respectively. Conclusion:Dyadic coping is the mediating variable of family cohesion, adaptability and happiness of spouses of patients with post-stroke motor impairments. Medical staff should try to construct a dyadic coping intervention plan to improve the dyadic coping level of spouses of patients with post-stroke motor impairments, so as to improve their family happiness index.

Background::Although the treatment of peripheral T-cell lymphoma (PTCL) has undergone advancements during the past several years, the response rate and long-term effects with respect to patients with PTCL remain unsatisfactory—particularly for relapsed or refractory (R/R) patients. This phase II trial was designed to explore the efficacy and safety of an all-oral regimen of chidamide plus prednisone, cyclophosphamide, and thalidomide (CPCT) for R/R PTCL patients who could not tolerate the standard chemotherapy for a variety of reasons.Methods::We conducted a multicenter phase II clinical trial in which we combined chidamide (30 mg twice weekly) with prednisone (20 mg daily after breakfast), cyclophosphamide (50 mg daily after lunch), and thalidomide (100 mg daily at bedtime) (the CPCT regimen) for a total of fewer than 12 cycles as an induction-combined treatment period, and then applied chidamide as single-drug maintenance. Forty-five patients were ultimately enrolled from August 2016 to April 2021 with respect to Chinese patients at nine centers. Our primary objective was to assess the overall response rate (ORR) after the treatment with CPCT.Results::Of the 45 enrolled patients, the optimal ORR and complete response (CR)/CR unconfirmed (CRu) were 71.1% (32/45) and 28.9% (13/45), respectively, and after a median follow-up period of 56 months, the median progression-free survival (PFS) and overall survival (OS) were 8.5 months and 17.2 months, respectively. The five-year PFS and OS rates were 21.2% (95% confidence interval [CI], 7.9-34.5%) and 43.8% (95% CI, 28.3-59.3%), respectively. The most common adverse event was neutropenia (20/45, 44.4%), but we observed no treatment-related death.Conclusion::The all-oral CPCT regimen was an effective and safe regimen for R/R PTCL patients who could not tolerate standard chemotherapy for various reasons.Trial Registration::ClinicalTrials.gov, NCT02879526.

Objective:To investigate the influence of maternal autoimmune diseases and anticoagulants, including low-molecular-weight heparin (LMWH) and aspirin, on the fetal fraction of maternal plasma cell-free DNA of non-invasive prenatal testing (NIPT).Methods:A prospective cohort study was conducted on women with singleton pregnancies receiving NIPT in the Nanjing Drum Tower Hospital from March 2021 to July 2022. NIPT was carried out using a polymerase chain reaction (PCR)-free amplification platform. In this study, four types of maternal autoimmune diseases, which were antiphospholipid syndrome, undifferentiated connective tissue disease, Sj?gren's syndrome, and systemic lupus erythematosus (SLE), and two anticoagulants, LMWH and aspirin, were studied. Univariate and multivariate linear regression models were used to analyze the factors influencing fetal fraction of maternal plasma cell-free DNA.Results:A total of 4 102 singleton pregnant women were enrolled in the prospective cohort, and 3 948 were finally included after excluding the cases with unclear dosing time of LMWH or aspirin, other autoimmune diseases, conceiving through ovulation induction alone, and having true positive or failed NIPT result. There were 96 cases with antiphospholipid syndrome, 35 with undifferentiated connective tissue disease, 34 with Sj?gren's syndrome, and 18 with SLE. A total of 108 patients only received LMWH treatment, 121 only received aspirin treatment, and 113 received both LMWH and aspirin treatment. Univariate linear regression analysis showed that maternal body mass index at blood collection ( B=－0.423), conceived by assisted reproductive technology ( B=－0.803), male fetus ( B=－0.458), undifferentiated connective tissue disease ( B=1.774), and SLE ( B=3.467) had influence on the fetal fraction (all P<0.05). Multivariate linear regression analysis showed that maternal body mass index at blood collection ( B=－0.415), conceived by assisted reproductive technology ( B=－0.585), male fetus ( B=－0.322), SLE ( B=3.347) and undifferentiated connective tissue disease ( B=1.336) were factors influencing fetal fraction (all P<0.05). Conclusions:Maternal use of LMWH or aspirin does not affect fetal fraction when performing NIPT on a PCR-free amplification platform, but undifferentiated connective tissue disease and SLE are the influencing factors. Therefore, pregnant women should be informed before the NIPT that the fetal fraction of maternal plasma cell-free DNA may be affected by maternal autoimmune diseases.

Objective:To learn about the iodine nutrition level and its spatial distribution status in key populations in Hubei Province, so as to provide a basis for adjustment of iodine supplementation policy and the realization of scientific and accurate iodine supplementation.Methods:In 2020, a sampling was carried out in Hubei Province according to the "National Iodine Deficiency Disorders Monitoring Plan (2016 Edition)" to monitor the concentration of salt iodine and urinary iodine of key populations (children ages 8 - 10 years old and pregnant women). The spatial distribution of iodine nutrition levels was analyzed by spatial epidemiology.Results:The median salt iodine of 17 263 children's family salt samples was 25.0 mg/kg, and the median urinary iodine (MUI) was 217.0 μg/L. There was significant spatial aggregation in the distribution of urinary iodine level in children at the county level ( Moran's Index = 0.36, P < 0.001). The significant hot spot areas with high urinary iodine level among children were located in Shiyan City and Xiangyang City, while the significant cold spot areas with low urinary iodine level were mainly concentrated in Yichang City. The median salt iodine of 8 618 pregnant women's family salt samples was 25.1 mg/kg, the MUI was 176.3 μg/L. The urinary iodine level among pregnant women at the county level was spatially clustered ( Moran's Index = 0.22, P = 0.003) . The significant hot spot areas with high urinary iodine level among pregnant women were mainly in Enshi Tujia and Miao Autonomous Prefecture, the significant cold spot areas were mainly concentrated in Yichang City. Conclusions:In 2020, the iodine nutrition of children in Hubei Province is at a super appropriate level (200 - 299 μg/L), and the iodine nutrition status of pregnant women is more sensitive, which is close to the lower limit of the appropriate level (150 μg/L). The urinary iodine level of children and pregnant women has significant spatial aggregation at the county level. Targeted intervention will be needed in counties (dictricts) where the urinary iodine level is lower or higher than the normal range, to achieve accurate and scientific iodine supplementation.

ObjectiveThis study aimed to understand the epidemiological characteristics of hand-foot-mouth disease （HFMD） in Minhang District， Shanghai from 2009 to 2020， and provide a scientific basis for the prevention and control of HFMD. MethodsThe case information of HFMD was collected from the National Notifiable Infectious Diseases Reporting System of Chinese Center for Disease Control and Prevention. We used descriptive epidemiological methods to analyze the population characteristics， temporal and spatial distribution of HFMD， the pathogen composition of the case and its changing trend. ResultsFrom 2009 to 2020， a total of 66，198 cases of HFMD were reported in Minhang District， Shanghai， including 377 severe cases （severe case rate 0.57%） and 3 deaths （severs case fatality rate 0.80%）. There were more cases of HFMD in boys than in girls （1.5∶1）. HFMD patients aged under 5 years predominated， accounting for 88.91% of all cases. Majority of the cases （91.42%） were in scattered children （55.80%） and children in kindergartens （35.62%）. The incidence showed a cyclical trend， with low incidence years and high incidence years appearing alternately. The peak period was from April to July， and sometimes there were small peaks during October to December. A total of 12 years time-space scanning analysis revealed 3 clusters. The cluster centers were located in Wujing Town， Huacao Town and Xinzhuang Town， respectively. The proportion of EV71 in common cases was generally decreasing， and reduced to zero in 2019. The proportion of CoxA6 had increased year by year， and reached 75.00% in 2020. CoxA6 became the dominant pathogen in recent years. The number of severe cases had decreased year by year since 2010， and the dominant pathogen was EV71 （90.03% on average） in severe cases. ConclusionThe incidence of HFMD in Minhang District of Shanghai has a downward trend from 2014. The dominant pathogen changes from EV71 to CoxA6， and the dominant pathogen in severe cases is EV71. The discovered temporal and spatial clustering pattern is helpful for in-depth understanding of the distribution and epidemic trend of HFMD in Minhang District， and provides a scientific basis for epidemic prevention and control.