Choroideremia (CHM) is an X-linked recessive inherited retinal disease characterized by progressive degeneration of photoreceptors, retinal pigment epithelium and choroid. Clinical manifestations include slowly progressive night blindness and visual field defects, for which there is no effective treatment. The development of fundus examination technology has provided more indicators for clinical diagnosis and follow-up observation, and the emergence of next generation sequencing technology has further improved the diagnostic rate of inherited retinal diseases, gradually deepening the understanding of the pathogenesis and natural history of CHM. Numerous clinical trials of CHM gene therapy have been conducted over a decade, with important advances in vector optimization for gene therapy, treatment time window selection, and management of trial adverse events. In the future, there is a need to deepen the understanding of the natural course of CHM and to adopt personalized treatment and endpoint evaluation targets for the treatment time window. Assessing differences in disease severity and individualizing treatment plans for different stages is more beneficial to prognosis.

The Master of Public Health (MPH) is one of the internationally recognized ways of training professionals in the medical and health field. With the outbreak of COVID-19 pandemic, the need for talents who can serve the national public health emergency management system has accelerated. This article makes the comparison of public health education in China and the UK, starting from the reasons and advantages of medical education in two countries, selecting several universities with high rankings in public health in China and the UK as the research objects, collecting and summarizing their programme descriptions, from the enrollment mode, training objectives, cultivation mode and degree types, curriculum settings, etc., in the MPH programme descriptions in order to find the advantages of MPH education in the UK, which can be used for reference in the education and training of public health talents in China, and is of great significance for the improvement and optimization of MPH education in China.

Objective:To analyze the pathogenic gene and clinical phenotypes of a family affected with rare sector retinitis pigmentosa (sector RP).Methods:A retrospective clinical study. A patient with sector RP diagnosed in Renmin Hospital of Wuhan University and his parents were included in the study. Detailed medical history was collected; best corrected visual acuity (BCVA), fundus color photography, autofluorescence (AF), visual field, optical coherence tomography (OCT), electroretinogram, fluorescein fundus angiography (FFA), indocyanine green angiography (ICGA) examination were performed. The peripheral venous blood of the patient and his parents were collected, and DNA was extracted. A whole exon sequencing was used for the proband. The mutations were verified by targeted Sanger sequencing and quantitative polymerase chain reaction. Bioinformatics analysis and cosegregation analysis were performed.Results:The proband, a 17-year-old male, had presented with gradually decreased vision in the past 2 years with BCVA of 0.4 in both eyes. Retinal vessels attenuation and macular dystrophy without obvious pigmentation on the fundus were observed. AF showed, in bilateral eyes, a symmetrical hypo-autofluorescent region only in the inferonasal quadrant and "petal-like" hyper-AF macula. The visual field examination showed defects in the superotemporal quadrant corresponding to the affected retina. OCT showed loss of the photoreceptor layer except for the foveal region. Electroretinogram examination presented reduced scotopic wave peaks and extinct photopic response. FFA and ICGA showed the atrophy retinal pigment epithelium around the optic disk and in the inferior retina. The clinical phenotypes of the parents were normal. The whole exon sequencing identified one mutation in SPATA7 gene, c.1112T>C (p.Ile371Thr) in exon10 and a copy number variation in trans. The missense mutation resulted in the change of isoleucine to threonine at amino acid 371 in the encoded SPATA7 protein, and the mother carried this heterozygous mutation c.1112T>C. According to the guidelines of the American College of Medical Genetics and Genomics (ACMG) criteria and guidelines for classification of genetic variants, the missense mutation was classified as the uncertain significance. The CNV, originating from his father, contributed to the loss of exon10 and was confirmed as the likely pathogenic variant. Conclusions:The macula can be involved in sector RP, leading to the macular dystrophy. The missense variant in SPATA7 gene, c.1112T>C (p.Ile371Thr), might be a pathogenic mutation site in this pedigree.

Objective To study the acute toxicity of tetrodotoxin to zebra fish. Methods The maximum non-lethal concentration (MNLC) and 10% lethal concentration (LC₁₀) determinations were used to assess the acute toxicity of tetrodotoxin. Results According to the simulation calculation of Origin 8.0 software, the MNLC was 8.62 µmol/L and 15.2 µmol/L for LC₁₀. Under the experimental conditions, tetrodotoxin at a concentration of 16.0 µmol/L and above induced pericardial edema and arrhythmia, leading to the death of zebra fish. The target organs for acute toxicity of tetrodotoxin were the heart and liver. The main manifestations were pericardial edema, arrhythmia, and delayed yolk sac absorption. The toxicity appeared at a concentration of 0.958 µmol/L. Conclusion Tetrodotoxin has heart and liver toxicity to zebra fish, and its toxicity is dose-dependent.

With the rapid changes in lifestyle, natural and social environment, the reproductive health status of couples in childbearing age continues to decline, and long-term outcomes of the rapidly increasing offspring conceived by assisted reproductive technology (ART) needs to be evaluated urgently. Therefore, the focus of research now needs to be extended from death and severe diseases to full life cycle and full disease spectrum. In order to meet the demand for such research, we launched the China National Birth Cohort (CNBC) study, an ongoing prospective and longitudinal study aiming to recruit 30 000 families underwent ART and 30 000 families with spontaneous pregnancies. Long-term follow-up programs will be conducted for both spouses and their offspring. Data of couples and their offspring, such as environmental exposure, reproductive history, psychological and behavioral status, will be collected during follow-up. Peripheral blood, urine, umbilical blood, follicular fluid, semen were also collected at different follow-up nodes. Based on high-quality data and biological samples, CNBC will play an extremely important supporting role and have a far-reaching impact on maternal and children's health care and reproductive health in China. This paper is exactly a brief introduction to the construction and basic design of CNBC.

Objective:To explore the effects of environmental, genetic factors as well as the interactions in early life on the short-term and long-term health of offspring and to systematically evaluate the pregnancy outcomes and health of offspring after birth between families with assisted reproductive technology (ART) conception and families with spontaneous conception.Methods:The China National Birth Cohort (CNBC), a multicenter prospective birth cohort study, includes both families with ART conception and families with spontaneous conception. Since 2016, CNBC has recruited families from 24 hospitals located in 12 provinces, municipalities and autonomous regions throughout China. Information and biospecimens were collected before ART treatment, embryo transfer, at early, second, third trimester and delivery, and at 42 days, 6, 12 and 36 months after birth.Results:By June 2020, CNBC had included 27 044 families with ART conception and 29 589 families with spontaneous conception. The majority of the participants are urban residents. Among the families with ART conception, 65.5% of the men and 63.7% of the women had college degrees or higher. The mean age distribution of men and women was (33.83±5.52) and (32.38±4.67) years. 83.2% of women were primiparas, and the prevalence rates of current regular smokers and current alcohol drinkers were 0.8% and 2.1% in women. Among the families with spontaneous conception, 81.5% of the men and 86.5% of the women had college degrees or higher. The mean age distribution of men and women was (32.06±5.09) and (30.40±4.27) years. 67.2% of women were primiparas, and the prevalence rates of current regular smokers and current alcohol drinkers were 0.1% and 2.2% in women. The baseline characteristics were different between the families with ART conception and spontaneous conception in different regions.Conclusion:CNBC provides a powerful and rich resource in studying the impact of genetic, environmental factors and interactions in early life and ART treatment on the health of offspring after birth.

Artificial intelligence not only has massive data storage capacity and powerful data analysis capability, but also can simulate human consciousness and thinking patterns using language recognition, image recognition, natural language processing and other technologies. At present, artificial intelligence has been integrated into every field of society, especially played an important role in the healthcare field of China. In this paper, the relevant literatures published in recent years about artificial intelligence in the healthcare field of China were reviewed and sorted, and the hotspots of artificial intelligence research were analyzed. The main application scenarios of artificial intelligence in this field were investigated and analyzed by classification and statistics. Finally, some challenges faced by artificial intelligence in promoting the healthcare of China were discussed and corresponding suggestions were proposed.

Objective To explore the expression of miRNA-181a (miR-181a) in patients with multiple myeloma (MM) and its effect on biological features of MM cells. Methods CD138+cells of bone marrow from 25 MM patients and 10 patients with hematological non-malignancies were purified by using immunomagnetic separation, and the expression of miR-181a in CD138+cells and MM cell lines including RPMI 8226, H929 and U266 were detected by real-time quantitative PCR. The effects of down-regulation and up-regulation of miR-181a expression on the biological characteristics of MM cells were studied with miR-181a antagomir and agomir. Results Compared with patients with hematological non-malignant diseases, the expression of miR-181a in CD138+ cells was upregulated in MM patients. Compared with CD138+ cells in hematological non-malignancies, high expressions of miR-181a were observed in RPMI 8226 and U266 myeloma cell line, while low expressions of miR-181a were observed in H929 cells. Down-regulation of miR-181a with 100 nmol/L miR-181a antagomir could inhibit the proliferation of U266 cells at 24,48 and 72 h [(67.1 ± 3.3) %vs. (50.5 ± 4.1) %, (71.5 ± 3.6) % vs. (52.3 ± 2.2) %, (78.1 ± 5.4) % vs. (69.5 ± 4.3) %, P < 0.05 respectively], whereas up-regulation of miR-181a with 100 nmol/L miR-181a agomir could significantly promote the proliferation of H929 cells at 24 h and 48 h [(21.2 ± 2.4) %vs. (38.5 ± 3.6) %, ( 61.3 ± 5.4) %vs. (82.2 ±6.9)%, P<0.01 respectively]. Cell cycle analysis showed that miR-181a antagomir made U266 cell cycle arrest in the G0/G1 phase. Meanwhile, susceptibility test results indicated that the apoptosis of U266 cells induced by doxorubicin, paclitaxel and 5-fluorouracil was increased when the proliferation of miR-181a expression was down-regulated with miR-181a antagomir. In migration assay, the data showed that down-regulation of miR-181a with miR-181a antagomir could inhibit the migration of U266 cells, and the proportion of migrated cells in the experimental group (62 ± 10) %was lower than that in the control group (89 ± 12) %(P< 0.05), whereas up-regulation of miR-181a with miR-181a agomir could improve the migration of H929 cells, and the proportion of migrated cells in the experimental group (242 ± 9) % was higher than that in the control group (98 ± 8)%(P<0.01). Conclusions The high expression of miR-181a expressed highly by MM cells may promote the proliferation, migration and drug resistance of myeloma cells, indicating that miR-181a could be an important prognostic biomarker candidate, and the application of gene silencing may improve the prognosis of MM.

BACKGROUND:It may be an important approach to avoiding organ transplant rejection by utilizing immature dendritic cells to induce donor-specific immunologic tolerance. OBJECTIVE:To study the effect of sinomenine on the differentiation and maturation of rat bone marrow-derived dendritic celsin vitro. METHODS:Bone marrow-derived dendritic cells were isolated from the rat femur and tibia, and immature dendritic cells were induced by granulocyte-macrophage colony stimulating factor and interleukin-4. On day 7, lipopolysaccharide was added and the cells were cultured to generate mature dendritic cells. Cells were divided into control group and low-, middle- and high-dose sinomenine treatment groups (SNL, SNM, SNH groups). Forty hours later, dendritic cels were harvested, and cell morphology was observed by inverted phase contrast microscope. The expression of CD80 and RT1B was detected by flow cytometry. ELISA was used to detect the expression of interleukin-12. The mixed lymphocyte reaction was used to detect the ability of dendritic cells to stimulate the activation of allogeneic T lymphocytes. RESULTS AND CONCLUSION: (1) Under the inverted microscope, the morphology of mature dendritic cells was observed in the control group; in the SNL group most dendritic cells were visible; in the SNM group, there were partially suspended cells with poor maturation; and in the SNH group, most of the cells were not mature. (2) The expression of CD80 in the control group was significantly lower than that in the SNL, SNM and SNH groups (P < 0.05), and the expression of RT1B was significantly reduced in the SNM and SNH groups than the control group. (3) Compared with the control group, the level of IL-12p70 in the cell supernatant was significantly decreased in the SNM and SNH groups (P < 0.01). (4) The ability of dendritic cells to stimulate T lymphocyte proliferation in the SNM and SNH groups was significantly decreased compared with the control group (P < 0.05). To conclude, sinomenine can inhibit the maturation of dendritic cells.

Objective To investigate the value of MR intravoxel incoherent motion (IVIM)imaging and dynamic susceptibility contrast-enhanced(DSC)perfusion imaging in astrocytoma grading.Methods 22 patients with high grade astrocytoma and 28 patients with low grade astrocytoma underwent conventional MRI and IVIM,DSC scanning before operation.Parameters of IVIM included standard diffusion coefficient(ADCstandard ),slow diffusion coefficient(D),fast diffusion coefficient(D? ),fractional perfusion-related volume (f)values,and parameters of DSC included relative blood volume(rCBV),relative blood flow(rCBF)values of tumor solid part were measured quantitatively.The values between the two groups were compared by two samples t-test.By using ROC curve to evaluate the diagnostic efficacy of using IVIM and DSC alone or jointly.Results The ADCstandard ,D,rCBV,rCBF values of tumor solid part had significant differences between the groups(P<0.01).The D? and f values were no significant differences (P=0.130,P=0.379).The area under the ROC curve of the values showed that ADCstandard (0.823),D(0.854),rCBV(0.858),rCBF(0.871),D+rCBV(0.952),D+rCBF(0.953).Conclusion The D,rCBV,rCBF values are helpful to determine the grade of astrocytomas.The use of IVIM in combination with DSC may improve the diagnostic accuracy of astrocytoma grading.