OBJECTIVETo optimize the methods for genetic detection and prenatal diagnosis of Duchenne muscular dystrophy (DMD).

METHODSDenaturing high-performance liquid chromatography (DHPLC), multiplex PCR (mPCR), sequencing and other molecular techniques were used in combination for molecular diagnosis of 8 cases diagnosed as DMD.

RESULTSAmong the 8 cases, 4 have carried large deletions, 3 have point mutations, among which 6 were of de novo type. Prenatal diagnosis were offered for 5 families, the results showed that none of the fetuses had carried large deletions or point mutations. The pregnancies had continued and healthy babies were born.

CONCLUSIONCombined use of short tandem repeat, DHPLC, mPCR and sequencing can improve the detection of DMD gene mutations. By establishing and optimizing genetic and prenatal diagnostic methods, accurate genetic counseling can be provided for families affected with DMD.

Adult ; Base Sequence ; Female ; Fetal Diseases ; diagnosis ; genetics ; Genetic Testing ; Humans ; Molecular Sequence Data ; Muscular Dystrophy, Duchenne ; diagnosis ; embryology ; genetics ; Pedigree ; Point Mutation ; Pregnancy ; Prenatal Diagnosis ; Sequence Deletion ; Young Adult

Objective: To investigate and compare the prevalence of distracted walking and determinants between general high school and vocational high school students and to provide a reference for the targeted interventions. Methods: A total of 1 777 senior high school students from 4 general high schools and 2 vocational high schools in Shanghai were selected for online questionnaire survey in December 2018 through convenience sampling. The questionnaire included demographic information and behaviors related to distracted walking. Results: In different road environments and crosswalk type, cell phone was used most frequently when waiting for traffic lights and when walking in housing estate roads in general high school students(24.6%,21.2%) and vocational high school student(18.8%,21.4%). More students from vocational schools reported smartphone use while walking in all road type except housing estate road(χ2=30.47,13.22,90.72,79.01,29.88,P<0.01). Listening to music was the main use of mobile phone when walking, students who spent more than half of their walking time listening to music were 31.2% at general high school students and 24.2% at vocational high schools; the need to access information is the primary motivator for smartphone use while walking. Nearly 50% participants realized smartphone use while walking could increase the risk of risky behaviors including inattention to traffic signals and status. About 30% general school students and 50% vocational school students agreed that tips, sprains and traffic collisions associated with distracted walking. Conclusion Currently, distracted walking is common among high school students, especially for vocational high school students. Pedestrian safety education should be incorporated into school-based education, together with education from parents, peers and the society, with the aim of increasing safety awareness.

Objective:To investigate potential effective components of traditional Chinese medicine and their molecular mechanisms of action in the anti-angiogenic treatment of Kaposi′s sarcoma based on network pharmacology, and to predict key targets and signal pathways in the anti-angiogenic treatment of Kaposi′s sarcoma with traditional Chinese medicine.Methods:According to the previous network pharmacology-based analysis results, main chemical components and targets of Rhizoma Polygoni Cuspidati, Cortex Mori, Rhizoma Smilacis Glabrae and Fructus Perillae were obtained by using the traditional Chinese medicine systems pharmacology database and analysis platform (TCMSP); potential therapeutic targets for angiogenesis and Kaposi′s sarcoma were obtained by searching the GeneCard, OMIM, DrugBank and TTD databases, and a Venn diagram was constructed to obtain targets for the interaction between Kaposi′s sarcoma and anti-angiogenic drug components; a protein-protein interaction model was constructed using the STRING 11.5 platform; the Cytoscape 3.6.0 software was used to construct the component-target visual network. Meanwhile, the Metascape platform was used to analyze the Gene Ontology (GO) functions and the enrichment of Kyoto Encyclopedia of Genes and Genome (KEGG) -based pathways. The main active ingredients and core targets obtained through the above analyses were then verified by molecular docking. Results:The core components of anti-Kaposi′s sarcoma angiogenesis drugs were resveratrol (degree: 142), quercetin (degree: 141), kaempferol (degree: 56), luteolin (degree: 56), β-sitosterol (degree: 37), arachidonic acid (degree: 36), naringenin (degree: 36), etc., and the core target was prostaglandin-endoperoxide synthase 2 (PTGS2). KEGG analysis revealed that the cancer signaling pathways were the important pathways related to the inhibiton of angiogenesis in Kaposi′s sarcoma; functional enrichment analysis showed that the positive regulation of cell migration was the most significantly enriched GO term in the biological process category. Molecular docking results showed that resveratrol, quercetin, kaempferol and luteolin had good affinity with PTGS2, especially quercetin and luteolin exhibited the strongest binding abilities to PTGS2, with the binding energies being -9.4 and -9.5 kcal/mol, respectively.Conclusion:This study showed that the 4 traditional Chinese medicines recorded in TCMSP (including Rhizoma Polygoni Cuspidati., Cortex Mori, Rhizoma Smilacis Glabrae and Fructus Perillae) may play an anti-angiogenic role by regulating cancer signaling pathways and acting on targets such as PTGS2, and predicted the possible anti-angiogenesis mechanisms of traditional Chinese medicines in Kaposi′s sarcoma.

Objective: To understand the epidemiologic characteristics of fall in the elderly in Shanghai, as well as the differences between urban and rural areas, and provide evidence for targeted fall prevention and intervention. Methods: From January to March in 2017, a questionnaire survey was conducted in the elderly aged 60 or above selected from 7 urban communities and 6 rural communities in Shanghai to understand the epidemiologic characteristics of fall in the elderly and analyze the gender and urban-rural differences. Results: In urban area, a total of 3 386 elderly people were surveyed, in whom 441 (13.0%) had fall and 261 (7.7%) were injured after fall. In rural area, a total of 2 826 elderly people were surveyed, in whom 320 (11.3%) had fall and 169 (6.0%) were injured after fall. Fall risk in women were higher than that in men in both urban and rural areas with OR of 1.62 (95%CI: 1.42-1.86) and 1.16 (95%CI: 1.38-1.98) respectively, but the differences of fall related injury were not significant. Compared with urban areas, fall risk and fall related injury risk were both lower in rural areas with OR of 0.86 (95%CI: 0.73-0.99) and 0.74 (95%CI: 0.56-0.99). Compared with urban areas, men had lower risk for fall, and women had lower risk for fall related injury with OR of 0.68 (95%CI: 0.51-0.90) and 0.66 (95%CI: 0.47-0.93) respectively. Fall mainly occurred at home. Fall in urban area more frequently occurred on stairs, and fall in rural area more frequently occurred during farming. More than 60% of the falls had environmental risk factors. Slippery ground and uneven ground were main reasons. The incidence of fracture resulted from fall was high indicated by 89 fracture cases in urban areas (28.2%) and 64 fracture cases in rural areas (36.1%). Conclusions The risk for fall in Shanghai had gender and urban-rural differences. Targeted intervention should be conducted according to the characteristics of fall in the elderly.