OBJECTIVE: To explore the clinical and genetic characteristics of a patient with hypertrophic cardiomyopathy as the initial manifestation of Mucopolysaccharidosis type Ⅲ A (MPS Ⅲ A). METHODS: A female patient with MPS Ⅲ A who was admitted to the Affiliated Hospital of Jining Medical University in January 2022 and her family members (seven individuals from three generations) were selected as the study subjects. Clinical data of the proband were collected. Peripheral blood samples of the proband was collected and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing. Heparan-N-sulfatase activity was determined for the disease associated with the variant site. RESULTS: The proband was a 49-year-old woman, for whom cardiac MRI has revealed significant thickening (up to 20 mm) of left ventricular wall and delayed gadolinium enhancement at the apical myocardium. Genetic testing revealed that she has harbored compound heterozygous variants in exon 17 of the SGSH gene, namely c.545G>A (p.Arg182His) and c.703G>A (p.Asp235Asn). Based on guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were predicted to be pathogenic (PM2_Supporting +PM3+PP1Strong+PP3+PP4; PS3+PM1+PM2_Supporting +PM3+PP3+PP4). Sanger sequencing confirmed that her mother was heterozygous for the c.545G>A (p.Arg182His) variant, whilst her father, sisters and her son were heterozygous for the c.703G>A (p.Asp235Asn) variant. Determination of blood leukocyte heparan-N-sulfatase activity suggested that the patient had a low level of 1.6 nmol/(g·h), whilst that of her father, elder and younger sisters and son were all in the normal range. CONCLUSION The compound heterozygous variants of the SGSH gene probably underlay the MPS ⅢA in this patient, for which hypertrophic cardiomyopathy is an associated phenotype.
Female ; Humans ; Cardiomyopathy, Hypertrophic ; Contrast Media ; East Asian People ; Gadolinium ; Mucopolysaccharidosis III ; Mutation ; Pedigree ; Male ; Middle Aged

Objective: To understand the characteristics of KAP (knowledge, attitude and practice) related to the prevention of AIDS among young male MSM (man sex with man) in China, and to evaluate the comprehensive ability of AIDS prevention and associated factors to provide a scientific basis for the development of MSM AIDS prevention and control. Methods: From November to December 2019, sampling was recruited by using snowball sampling methods centered on Beijing and Tianjin. A cross-sectional survey of 222 young students MSM was conducted through an online questionnaire with information of general demographic characteristics, sexual behavior and HIV testing, psychological status and comprehensive ability to prevent AIDS. Results: Average score on comprehensive AIDS prevention knowledge was (87.64±6.41),with knowledge,attitude,and behavior score of (11.32±1.67)(54.87±3.36) and (52.18±4.30) respectively.The pass rate of knowledge, attitude, practice related to AIDS prevention were respectively 95.5%, 56.3%, and 27.0%. The separation rate of knowledge from belief was 42.8%, the separation rate of knowledge from behavior was 71.2%, and the separation rate of faith from information was 48.2%. Whether have received AIDS prevention education was related to knowledge qualification rate (P<0.01). Conclusion Current AIDS education is associated with the knowledge level of AIDS prevention among young MSM groups, but it is not enough to improve their attitudes and behaviors. The comprehensive ability of MSM in preventing AIDS among young students is still not optimistic. Intervention measures need to be further strengthened to improve the comprehensive ability of young students MSM group to prevent AIDS.

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection can cause acute respiratory distress syndrome, hypercoagulability, hypertension, and multiorgan dysfunction. Effective antivirals with safe clinical profile are urgently needed to improve the overall prognosis. In an analysis of a randomly collected cohort of 124 patients with COVID-19, we found that hypercoagulability as indicated by elevated concentrations of D-dimers was associated with disease severity. By virtual screening of a U.S. FDA approved drug library, we identified an anticoagulation agent dipyridamole (DIP) , which suppressed SARS-CoV-2 replication . In a proof-of-concept trial involving 31 patients with COVID-19, DIP supplementation was associated with significantly decreased concentrations of D-dimers ( < 0.05), increased lymphocyte and platelet recovery in the circulation, and markedly improved clinical outcomes in comparison to the control patients. In particular, all 8 of the DIP-treated severely ill patients showed remarkable improvement: 7 patients (87.5%) achieved clinical cure and were discharged from the hospitals while the remaining 1 patient (12.5%) was in clinical remission.

Objective: To identify the characteristics of social network and the association between ego-centric network and HIV status among young MSM Chinese students. Methods: The cross-sectional study was conducted in Chongqing, Tianjin, Harbin and Xi an city from April to December 2017 and from March to May 2018. A mixed recruitment method of snowball sampling and RDS approach was used to recruit participants who reported information on social network and received HIV test. The Multiple Regression Analysis method was used to for the analysis of association between ego-centric social network and HIV status of men who have sex with men (MSM) among young students. Results: The sample included 547 participants who nominated 1 088 social partners in total with average age of 13 to 60 years old. The MSM with different sexual orientation from their social members (aOR=0.38), embedded in a large network (aOR=0.63), with a high individual betweenness centrality (aOR=0.27) were at lower risk of HIV-positive status; while MSM who differed greatly in education level with their social members(aOR=1.60), existed in sexual networks(aOR=1.41), existed in the “risky networks” (aOR=1.88) , with high network density (aOR=1.91) and a high individual degree (aOR=4.10) had higher risk of HIV-positive status(P<0.05). Conclusion MSM with great difference in education level from social members, existed in sexual networks, with a large network density and a high degree were exposed to higher risk of HIV-positive status.

Objective: The proposal of this study is to determine the feasibility of using online social software to guide popular opinion leaders(POLs) among young students MSM (men who have sex with men, MSM) carrying out comprehensive AIDS prevention in young students MSM. Methods: From November to December 2019 in Tianjin, 22 POLs who had previously experienced AIDS prevention education and training foucus on life skills were recruited. Though snowball sampling method, 100 POLs partners (friends, sexual partners, classmates, etc) were invited into the study. From January to March 2020, regular posters will be sent through the WeChat platform to guide POL to intervene their partners/sexual partners. The questionnaire surveys were conducted before and after the intervention. Results: After the intervention, both the proportion of young students MSM had sex and with multiple sex partners decreased(χ2=12.12, 5.94, P<0.05). The comprehensive ability of AIDS prevention has improved significantly, the "National Eight Items" correct rate has risen from 90.0% to 99.0%(χ2=5.82, 7.56, P<0.05), and the "Youth Eight Items" correct rate has increased from 86.0% to 98.0%(P<0.01). Knowledge score increased from(11.08±1.89) to (11.84±1.27); Attitude score increased from (54.29±4.01) to (56.06±3.75), the behavior score increased from (52.12±4.78) to (55.08±4.25), skill score increased from (51.96±4.75) to (54.67±5.04), The comprehensive prevention ability score (percent) increased from (87.30±6.95) to (91.86±5.42)(t=-4.21, -3.51, -5.32, -5.16, -6.45, P<0.01). Conclusion Using Wechat platform to guide POL carrying out comprehensive AIDS prevention is effective for improving the comprehensive AIDS prevention ability of young students MSM.

Objective: To understand the characteristics of sexual partners and the influence of having multiple sexual partners on substance use among young male students man who have sex with men (MSM) in China, and to provide scientific basis for the prevention and control of HIV/AIDS among young MSM students. Methods: A mixed recruitment method of snowball sampling and respondent driven sampling was used to recruit young MSM students in Beijing and Tianjin, and a questionnaire survey was conducted among 220 participants from November to December 2019. Chi-square test and generalized linear model multi-factor Logistic regression were used to analyze the influencing factors of substance use before sexual behavior. Results: The average age of them was (22.39±2.57) years old, 84.5% of them were students, the average age of first sexual behavior was (18.83±2.45) years old, 44.1% of them had two or more sexual partners (including fixed sexual partners, temporary sexual partners and commercial sexual partners), 22.7% had more than one male fixed partner. After adjusting for age and education, having multiple sexual partners was risk factor for drinking alcohol before sex (aOR=2.97) or substance abuse (aOR=2.39). Having male temporary sexual partner was an risk factor in substance use before sexual behavior(OR=4.10). Conclusion The characteristics of sexual partners among young MSM students are complex, and the proportion of multiple sexual partners is high. Having fixed single sexual partner can reduce the risk of substance use before sexual behavior. AIDS prevention education for young MSM students should be further strengthened.

Objective: To develop the Evaluation Sacle for the Comprehensive Ability of HIV/AIDS prevention among Chinese Young Students(hereinafter referred to as the Evaluation Scale). Methods: The Evaluation Scale was preliminarily developed according to standardized preparation procedures of the scales. Firstly, the item pool of the Evaluation Scale was established via literature review and group discussions, and based on the Fourteen Core knowledge of young students HIV/AIDS prevention and control formulated by the Chinese Center for Disease Control and Prevention. Secondly, the Evaluation Scale was preliminarily formed via using the Delphi method to select items. Results: The Evaluation Scale with 85 items was finally formed including four vertical dimensions of knowledge, attitude, behavior and skills and four horizontal dimensions of hazard, prevention, detection and treatment, laws and regulations via literature research, group discussion and two rounds of Delphi method. Conclusion The Evaluation Scale developed in this paper is scientific and reasonable for constructing is assumed to be a scientific and reasonable proxy tool for the evaluation of the comprehensive ability of young students to prevent AIDS. It can be used for AIDS prevention education or effect assessment before and after intervention.

Objective The study was to investigate the activation of tumor necrosis factor α (TNF-α) mRNA transcription and protein expression in peripheral blood and activation of signal path PI3K/AKT in patients with chronic heart failure. Methods From February 2015 to April 2018, 244 patients with heart failure in the cardiovascular department of our hospital were selected as heart failure group, while 244 healthy cases were enrolled as the control group at the same time. The peripheral blood samples of two groups were collected. We detected the transcription and protein expression of TNF-α mRNA and the activation of PI3K, AKT in peripheral blood. The left ventricular ejection fraction (LVEF) were measured in two groups. The correlations between influencing factors and LVEF were analyzed. Results The levels of PI3K, AKT in the heart failure group were higher than those in the control group. The differences were statistically significant respectively (P < 0.05). The mRNA relative content and protein content of TNF-α in peripheral blood mononuclear cells of heart failure group were higher compared with those of control group (P < 0.05). The LVEF of heart failure group was significantly lower than that of the control group (34.50 ± 6.33) ％ versus (55.60 ± 2.49) ％, P < 0.001). Among 244 patients with heart failure, Spearman correlation analysis showed that there were significant positive correlations between TNF-a mRNA and protein expression levels and the levels of PI3K, AKT respectively (P < 0.05). Multiple factors unconditional Logistic regression analysis showed that the TNF-α mRNA, protein expression and PI3K, AKT levels in peripheral blood were independent risk factors for LVEF (P < 0.05). Conclusion The expression levels of PI3K, AKT and TNF-α are all significantly increased in chronic heart failure patients, which could participate in the occurrence and development of heart failure.

Objective: To evaluate the immediate effectiveness of intervention on HIV prevention and leadership of POL among young male students who have sex with men in a city, and to provide reference for health education of AIDS. Methods: A life-skills based participatory approach was adopted to intervene the AIDS prevention and leadership of 54 POL in young male students who have sex with men in a city. A unified questionnaire was adopted before and after the intervention to investigate and evaluate the effects. Results: After intervention, the scores of AIDS prevention information increased from (36.30±7.30) points to (42.09±3.43) points (P<0.01). In terms of motivation, the scores of experience and attitude of condom-using were increased from (5.43±1.19) points to (5.83±1.24) points (P<0.05). As for the behavioral skills, the scores of condom-use skills increased from (4.30±1.04) points to (4.85±0.53) points (P<0.01), the scores of condom self-efficacy increased from (55.85±12.40) points to (61.48±8.01) points (P<0.01), the scores of autonomic HIV testing ability increased from (4.11±1.09) points to (4.65±0.52) points (P<0.01), the ability to avoid alcohol consumption before sexual behavior increased from (3.74±1.19) points to (4.13±0.91) points(P<0.05), and the ability to correctly seek medical advice after illness increased from (9.33±1.32) points to (9.69±0.77) points(P<0.05). In the part of the leadership, the scores of peer status increased from (26.96±5.55) points to (29.81±6.68) points (P<0.01), the scores of active communication ability increased from (21.35±5.76) points to (24.43±4.17) points (P<0.01), and the scores of psychosocial ability increased from (77.96±13.42) points to (80.89±12.42) points (P<0.05). Conclusion Life-skill-based intervention, which is guided by Information-Motivation-Behavioral skills model, is effective in improving AIDS prevention and leadership.

Objective: Explore the feasibility of POL intervention based on life skills in young students at high-risk of AIDS, and to provide reference for POL intervention. Methods: Nine potential POLs were recruited from young students at high risk of AIDS in Xi’an, and received life-skill-based interventions from May to October in 2017. A unified approach was adopted before the intervention. The effect of intervention was evaluated at 1 month and 3 months after the intervention. Results: The difference in POLs peer status and psychosocial ability scores was not significant after the intervention. The scores of persistence efficacy dimension of condom use efficacy before, 1-month and 3-month after the intervention were (10.56±1.88)(11.11±2.21)(12.89±2.09)(F=6.84, P<0.05) respectively. No significant changes were found in AIDS-related knowledge and behavior before and after the intervention. POL has increased from 108 students before intervention to 216 publicity coverage after three months intervention, however, the difference was not statistically significant. Feasibility analysis of the POL intervention showed that 8 of the POLs considered to be "very useful". Conclusion Life skill-based POL intervention for young students at high-risk of AIDS has a wide coverage and reasonable acceptance, as well as condom use adherence. The long-term effectiveness still needs to be verified.