Metachromatic leukodystrophy (MLD) is an inherited disease caused by a deficiency of the enzyme arylsulfatase A (ARSA). Lentivirus-modified autologous hematopoietic stem cell gene therapy (HSCGT) has recently been approved for clinical use in pre and early symptomatic children with MLD to increase ARSA activity. Unfortunately, this advanced therapy is not available for most patients with MLD who have progressed to more advanced symptomatic stages at diagnosis. Patients with late-onset juvenile MLD typically present with a slower neurological progression of symptoms and represent a significant burden to the economy and healthcare system, whereas those with early onset infantile MLD die within a few years of symptom onset. We conducted a pilot study to determine the safety and benefit of HSCGT in patients with postsymptomatic juvenile MLD and report preliminary results. The safety profile of HSCGT was favorable in this long-term follow-up over 9 years. The most common adverse events (AEs) within 2 months of HSCGT were related to busulfan conditioning, and all AEs resolved. No HSCGT-related AEs and no evidence of distorted hematopoietic differentiation during long-term follow-up for up to 9.6 years. Importantly, to date, patients have maintained remarkably improved ARSA activity with a stable disease state, including increased Functional Independence Measure (FIM) score and decreased magnetic resonance imaging (MRI) lesion score. This long-term follow-up pilot study suggests that HSCGT is safe and provides clinical benefit to patients with postsymptomatic juvenile MLD.
Humans ; Leukodystrophy, Metachromatic/genetics* ; Pilot Projects ; Genetic Therapy/methods* ; Hematopoietic Stem Cell Transplantation ; Male ; Follow-Up Studies ; Female ; Lentivirus/genetics* ; Child ; Child, Preschool ; Hematopoietic Stem Cells/metabolism* ; Cerebroside-Sulfatase/metabolism* ; Adolescent

BACKGROUND: Early control of low-density lipoprotein cholesterol (LDL-C) is crucial for reducing the progress of cardiovascular disease. However, its additional role to the risk of primary osteoporosis in men with coronary heart disease was inconclusive. Our study aims to determine the association of LDL-C and its trajectories for osteoporosis risk in the middle-aged and aged men of China. METHODS: The retrospective cohort study of 1546 men aged 69.74 ± 11.30 years conducted in Beijing, China from 2015 to 2022. And the incidence of primary osteoporosis was annually recorded. LDL-C trajectories were further identified by latent class growth model using repeated measurements of LDL-C. The association of baseline LDL-C for osteoporosis was estimated using hazard ratio (HR) with 95% CI in Cox proportional hazard model, while mean level and trajectories of LDL-C for osteoporosis were evaluated using odds ratio (OR) with 95% CI in logistic regression model. RESULTS: During the median 6.2-year follow-up period, 70 men developed primary osteoporosis. The higher level of baseline LDL-C (HR = 1.539, 95% CI: 1.012-2.342) and mean LDL-C (OR = 2.190, 95% CI: 1.443-3.324) were associated with higher risk of osteoporosis in men with coronary heart disease after adjusted for covariates. Compared with those in the LDL-C trajectory of low-stable decrease, participants with medium-fluctuant trajectory, whose longitudinal LDL-C started with a medium LDL-C level and appeared an increase and then decrease, were negatively associated with osteoporosis risk (OR = 2.451, 95% CI: 1.152-5.216). And participants with initially high LDL-C level and then a rapid decrease demonstrated a tendency towards reduced risk (OR = 0.718, 95% CI: 0.212-2.437). CONCLUSIONS Elevated LDL-C level and its long-term fluctuation may increase the risk of primary osteoporosis in men. Early controlling a stable level of LDL-C is also essential for bone health.

Objective To perform visual analysis for the literatures related to the application of new technologies in academic journal publishing,and to explore the research hotspots and development trends of new technologies applied to academic journal publishing in China.Methods We searched literatures in CNKI with the search formula SU%='Academic Journal Publishing'*('New Technology'+'5G'+'Big Data'+'Artificial Intelligence'+'Blockchain'+'Mobile Terminal'+'Cloud Computing'+'Internet'+'Database'+'VR/AR'+'Multimedia'),and using CiteSpace software,we analyzed the research hotspots and development trends of new technologies applied to academic journal publishing.Results A total of 436 articles were included in this study.The journal with the largest number of articles was China Science and Technology Journal Research.There were 34 core authors in the literatures included,and the collaboration between authors was relatively loose.The cooperation and communication between research institutions were not sufficient,and the cross-institutional cooperation needed to be strengthened.The keywords related to dimensional analysis,such as co-occurrence,clustering,and highlighting had significant characteristics.The research mainly focused on"the integrated development of academic journals and digital publishing","the innovation and development of the publishing under the background of internet+","media integration and communication strategy of academic journals","research on the application of artificial intelligence in the publishing",and"research on the communication effect of scientific and technical journals on cnki and other platforms".Conclusion The research of new technologies applied to academic journal publishing is still at a primary stage.The research mainly focuses on digital publishing,new media integration,talent training,and journal publishing reform,aiming to explore the way of talent training,academic dissemination strategy,innovative development path,and integrative development direction of academic journals in the digital era.

Di-(2-ethylhexyl)phthalate(DEHP)is an environmental pollutant commonly found in plastic products and has toxic effects on female reproductive system.DEHP can interfere with the synthesis of progesterone,testosterone and estradiol through female hypothalamic-pituitary-ovarian axis,aggravate insulin resistance and obesity by affecting glucose and lipid metabolism,and cause ovarian damage through inducing oxidative stress,excessive autophagy and pyroptosis of oocyte or granulosa cells.It can also alter epigenetic genes relating to follicular development and prevent follicles from mature.These factors are closely contribute to the pathogenesis of polycystic ovary syndrome.We systematically summarizes the mechanism of DEHP interfering with ovarian function and inducing polycystic ovary syndrome,in order to provide help for the prevention and treatment of female reproductive injury from environmental pollutant.

Objective This study aimed to investigate the potential relationship between urinary metals copper (Cu), arsenic (As), strontium (Sr), barium (Ba), iron (Fe), lead (Pb) and manganese (Mn) and grip strength. Methods We used linear regression models, quantile g-computation and Bayesian kernel machine regression (BKMR) to assess the relationship between metals and grip strength.Results In the multimetal linear regression, Cu (β=-2.119), As (β=-1.318), Sr (β=-2.480), Ba (β=0.781), Fe (β= 1.130) and Mn (β=-0.404) were significantly correlated with grip strength (P < 0.05). The results of the quantile g-computation showed that the risk of occurrence of grip strength reduction was -1.007 (95％ confidence interval:-1.362, -0.652; P < 0.001) when each quartile of the mixture of the seven metals was increased. Bayesian kernel function regression model analysis showed that mixtures of the seven metals had a negative overall effect on grip strength, with Cu, As and Sr being negatively associated with grip strength levels. In the total population, potential interactions were observed between As and Mn and between Cu and Mn (Pinteractions of 0.003 and 0.018, respectively).Conclusion In summary, this study suggests that combined exposure to metal mixtures is negatively associated with grip strength. Cu, Sr and As were negatively correlated with grip strength levels, and there were potential interactions between As and Mn and between Cu and Mn.

Objective To study the communication power of WeChat official accounts of popular health science periodicals based on WCI.Methods Six popular health science periodicals were selected from the catalog of national excellent popular science periodicals(2020),namely Family Medicines,Family Doctor,Home Medicine,TCM Healthy Life-Nurturing,Health and Life,and Popular Medicine.The indicators related to the communication power of their WeChat official accounts were collected,and the WCI was calculated to evaluate their communication power.Results The average WCI of WeChat official accounts of the 6 popular health science periodicals from August 2023 to January 2024 in descending order was as follows:Family Doctor,TCM Healthy Life-Nurturing,Popular Medicine,Home Medicine,Family Medicines,and Health and Life.The average WCI of Family Doctor was excellent,the average WCI of Health and Life was poor,and the others were medium.From August 2023 to January 2024,the average number of articles published in the WeChat official accounts of the 6 health science periodicals in descending order was as follows:Family Doctor,Family Medicines,Home Medicine,Popular Medicine,Health and Life,and TCM Healthy Life-Nurturing.Conclusion The communication power of WeChat official accounts of outstanding popular health science journals in China still needs to be improved.It can be improved by optimizing the content of tweets,strengthening interaction with users,improving the utilization of modern technologies such as digitalization,big data and artificial intelligence,and strengthening multi-party cooperation.These measures can help journals to better disseminate health knowledge,meet needs of health education,and improve the national health level.

Objective: To study the clinical efficacy of biological ceramics (iRoot BP Plus ) and mineral trioxide aggregate (MTA) in direct pulp capping of mature permanent teeth, to provide referrence for clinical application. Methods : Seventy-four patients with pulp exposure due to deep caries or reversible pulpitis in 75 mature permanent teeth were selected and were randomly divided into two groups. iRoot BP Plus were used as pulp capping agents in the treatment group and MTA were used as pulp capping agents in the control group respectively. The clinical efficacy and imaging analysis were performed at 1, 3, 6 and 12 months after operation. Treatment success rate of the two groups were calculated, and the influence of various factors including gender, age, tooth position, cavity, number and size of pulp exposure on the efficacy of direct pulp capping were analyzed. Results : Sixty patients with 61 mature permanent teeth were selected. Twelve mouths after treatment, 61 teeth of 60 patents were completely investigated (iRoot group: 31 teeth 30 patients; MTA group: 30 teeth 30 patients). The success rates of the 2 groups were 90.3% (iRoot BP Plus) and 90.0% (MTA), respectively. There was no statistical difference between 2 groups (P>0.05). Statistical analysis also showed that gender, age, tooth position, cavity, number and size of pulp exposure had no significant difference between the two groups (P>0.05). Conclusion Both iRoot BP Plus and MTA are effective in direct pulp capping of mature permanent teeth with carious pulp exposure, while the operation of iRoot is simple and convenient.

Anti-seizure medications (ASMs) are the main therapy for epilepsy.There are many kinds of ASMs with complex mechanism of action, so it is difficult for pharmacists to examine prescriptions.This paper put forward some suggestions on the indications, dosage forms/routes of administration, appropriateness of usage and dosage, combined medication and drug interaction, long-term prescription review, individual differences in pathophysiology of children, and drug selection when complicated with common epilepsy, for the reference of doctors and pharmacists.

Objective To observe the clinical efficacy and safety of bevacizumab in the treatment of platinum-resistant ovarian cancer,tubal cancer,peritoneal carcinoma cancer.Methods Patients with platinum resistance ovarian cancer,tubal cancer and peritoneal carcinoma cancer treated with bevacizumab were in included into treatment group.Patients with platinum-resistance in ovarian cancer,tubal cancer and peritoneal carcinoma cancer who received docetaxel chemotherapy during the same period were included into control group.The treatment group was given bevacizumab 5 mg·kg-1 by intravenous infusion once every 2 weeks,and the first intravenous infusion lasted for 90 min,with a total of 4 times of chemotherapy.The control group was given docetaxel 70-75 mg·m-2 by intravenous infusion,once every 3 weeks,1 h each time,a total of 4 times of chemotherapy.The clinical efficacy after chemotherapy,the levels of serum squamous cell carcinoma antigen(SCC-Ag),malignant tumor-related substance group(TSGF),cytokeratin 19 fragment(CYFRA21-1),the changes of tumor markers,immune indexes and the occurrence of adverse drug reactions were compared between the two groups.Results There are 70 cases in treatment group and 50 cases in control group.After four rounds of chemotherapy,the total effective rates of treatment group and control group were 47.14％(33 cases/70 cases)and 30.00％(15 cases/50 cases),with statistically significant difference(P＜0.05).After chemotherapy,the SCC-Ag levels in treatment group and control group were(3.10±1.05)and(5.50±1.95)mg·L-1;TSGF levels were(30.20±9.94)and(56.70±10.45)U·mL-1;CYFRA21-1 levels were(1.03±0.45)and(2.10±0.99)mg·L-1;carcinoembryonic antigen(CEA)levels were(66.81±48.74)and(89.18±56.08)ng·mL-1;the tumor markers CA199 were(110.26±51.36)and(124.13±53.80)U·mdL-1;the gastric cancer antigen(CA724)were(14.70±9.72)and(20.54±18.51)U·mL-1;the CD3+levels were(72.45±9.45)％and(67.10±10.25)％;the CD4+levels were(48.49±9.15)％and(39.56±6.77)％;the CD8+levels were(20.18±3.85)％and(24.02±4.45)％,the differences were all statistically significant(all P＜0.05).There was no significant difference in the incidence of adverse drug reactions between the two groups(P＞0.05).Conclusion Bevacizumab is more effective than docetaxel in the treatment of platinum-resistant ovarian cancer,tubal cancer,peritoneal carcinoma cancer.

OBJECTIVES: To investigate the clinical treatment outcomes and the changes of the outcomes over time in extremely preterm twins in Guangdong Province, China. METHODS: A retrospective analysis was performed for 269 pairs of extremely preterm twins with a gestational age of <28 weeks who were admitted to the department of neonatology in 26 grade A tertiary hospitals in Guangdong Province from January 2008 to December 2017. According to the admission time, they were divided into two groups: 2008-2012 and 2013-2017. Besides, each pair of twins was divided into the heavier infant and the lighter infant subgroups according to birth weight. The perinatal data of mothers and hospitalization data of neonates were collected. The survival rate of twins and the incidence rate of complications were compared between the 2008-2012 and 2013-2017 groups. RESULTS: Compared with the 2008-2012 group, the 2013-2017 group (both the heavier infant and lighter infant subgroups) had lower incidence rates of severe asphyxia and smaller head circumference at birth (P<0.05). The mortality rates of both of the twins, the heavier infant of the twins, and the lighter infant of the twins were lower in the 2013-2017 group compared with the 2008-2012 group (P<0.05). Compared with the 2008-2012 group, the 2013-2017 group (both the heavier infant and lighter infant subgroups) had lower incidence rates of pulmonary hemorrhage, patent ductus arteriosus (PDA), periventricular-intraventricular hemorrhage (P-IVH), and neonatal respiratory distress syndrome (NRDS) and a higher incidence rate of bronchopulmonary dysplasia (P<0.05). CONCLUSIONS There is a significant increase in the survival rate over time in extremely preterm twins with a gestational age of <28 weeks in the 26 grade A tertiary hospitals in Guangdong Province. The incidences of severe asphyxia, pulmonary hemorrhage, PDA, P-IVH, and NRDS decrease in both the heavier and lighter infants of the twins, but the incidence of bronchopulmonary dysplasia increases. With the improvement of diagnosis and treatment, the multidisciplinary collaboration between different fields of fetal medicine including prenatal diagnosis, obstetrics, and neonatology is needed in the future to jointly develop management strategies for twin pregnancy.
Bronchopulmonary Dysplasia/epidemiology* ; Female ; Gestational Age ; Humans ; Infant ; Infant, Extremely Premature ; Infant, Newborn ; Pregnancy ; Respiratory Distress Syndrome, Newborn/epidemiology* ; Retrospective Studies ; Treatment Outcome