Objective:To explore the clinical application of preimplantation genetic testing for monogenic disorders (PGT-M) in an unique case with Spinal muscular atrophy (SMA) type 2+ 0.Methods:A special SMA family presented at the Third Affiliated Hospital of Guangzhou Medical University on October 19, 2020 was selected as the study subject. Multiple ligation-dependent probe amplification (MLPA) and molecular tagging linkage analysis were carried out to identify the SMN1 genotype of the couple and their fetus. Subsequently, next-generation sequencing (NGS), molecular tagging linkage analysis, and chromosomal microarray analysis were employed to determine the haplotypes and validate the result of PGT-M on the 11 embryos derived for the couple. Results:The female partner was identified as a carrier of the rare SMN1[2+ 0] variant, and prenatal diagnosis confirmed the fetus to be affected by SMA. Ultimately, PGT-M has successfully selected four embryos free from the pathogenic SMN1 variants and X chromosome deletion. Conclusion:PGT-M can effectively prevent the transmission of rare genetic variants such as the SMA 2+ 0 subtype in the families. Above finding has provided guidance for genetic counseling and family planning for the couple.

Objective To investigate the effect of elastic pants on coagulation function and deep vein thrombosis by examining blood coagulation function and deep vein thrombosis in patients with liposuction in the thigh before and after operation.Methods 80 patients with liposuction were randomly divided into Ankle-length elastic pants(Ankle group,A group,n=40)and Knee-length elastic pants(Knee group,K group,n=40)from October 2021 to October 2022.After liposuction surgery,the two groups of patients used elastic bandage to initially compress and bind the thigh.According to the length of the patients'thigh,the patients in A group wore appropriate ankle-length elastic pants and the patients in K group wore appropriate knee-length elastic pants.The index were recorded including the popliteal vein flow rate,the common femoral vein flow rate,the instep temperature,the incidence of deep vein thrombosis(DVT),the incidence of intramuscular vein thrombosis of leg and the coagulation indexes(APTT,PT,Fib,D-dimer).Results Compared with pre-operation,the blood flow rate of popliteal vein and common femoral vein in A group was significantly faster,while the blood flow rate of popliteal vein in K group was significantly slower(P＜0.05).There was no significant change in APTT and PT in the two groups after operation(P＞0.05),but the Fib and D-Dimer increased significantly on the first day after operation,and then decreased gradually(P＜0.05).Compared with K group,the blood flow of popliteal vein and common femoral vein in A group was significantly faster at each time point after operation(P＜0.05).The Fib and D-Dimer of patients in A group were significantly lower than those in K group on the 1st,3rd and 7th day after operation(P＜0.05),and the blood coagulation index between the two groups returned to normal around the 14th day.There was no statistically significant difference in the instep temperature between groups and within groups(P＞0.05).No deep venous thrombosis was found in A group after surgery,while there were 3 cases of deep venous thrombosis without clinical symptoms in K group on the 3rd and 7th day,with no statistical difference(P＞0.05).After surgery,patients in A group and K group had intramuscular venous thrombosis of the leg on the 1st,3rd and 7th day after surgery,and there was statistically significant difference on the 3rd and 7th day between the two groups(P＜0.05).Conclusion Thigh liposuction can lead to deep vein thrombosis without obvious clinical symptoms and intramuscular vein thrombosis of leg.Ankle-length elastic pants are more conducive to blood circulation of patients'legs,improve blood hypercoagulability,and reduce the risk of deep vein thrombosis after operation.

COVID-19 represents the most serious public health event in the past few decades of the 21^st century. The development of vaccines, neutralizing antibodies, and small molecule chemical agents have effectively prevented the rapid spread of COVID-19. However, the continued emergence of SARS-CoV-2 variants have weakened the efficiency of these vaccines and antibodies, which brought new challenges for searching novel anti-SARS-CoV-2 drugs and methods. In the process of SARS-CoV-2 infection, the virus firstly attaches to heparan sulphate on the cell surface of respiratory tract, then specifically binds to hACE2. The S protein of SARS-CoV-2 is a highly glycosylated protein, and glycosylation is also important for the binding of hACE2 to S protein. Furthermore, the S protein is recognized by a series of lectin receptors in host cells. These finding implies that glycosylation plays important roles in the invasion and infection of SARS-CoV-2. Based on the glycosylation pattern and glycan recognition mechanisms of SARS-CoV-2, it is possible to develop glycan inhibitors against COVID-19. Recent studies have shown that sulfated polysaccharides originated from marine sources, heparin and some other glycans display anti-SARS-CoV-2 activity. This review summarized the function of glycosylation of SARS-CoV-2, discoveries of glycan inhibitors and the underpinning molecular mechanisms, which will provide guidelines to develop glycan-based new drugs against SARS-CoV-2.
Antibodies, Neutralizing ; Glycosylation ; Heparin ; Heparitin Sulfate ; Humans ; Polysaccharides/chemistry* ; Receptors, Mitogen/metabolism* ; SARS-CoV-2 ; Spike Glycoprotein, Coronavirus/metabolism* ; COVID-19 Drug Treatment

Objective: To investigate lunch supply of public primary school canteens in Zhejiang Province, and to provide a basis for the scientific guidance of school lunch. Methods: During May to Jun. and Sept. to Oct. in 2019, lunch food supply was weighed and recorded and the number of diners in 44 public primary school canteens were summarized. Each investigation lasted for one week. Results: Food was mainly based on the taste of the students (40.91%) in the school canteen. About 45.45% of the schools referred to the Nutrition Guidelines of School Meals for students meals when making recipes in the school canteen. The supplies of cereals, vegetables, fruits, livestock and poultry meat, fish and shrimp, eggs, milk, soybean nuts, vegetable oil and salt were 109.05, 118.01, 0, 63.96, 9.25, 11.31, 0, 10.68, 10.47, 2.54 g. The supply of vegetable oil was basically the same as the recommended amount ( P >0.05). The supplies of energy, protein, calcium, iron, zinc, vitamin A, vitamin B 1, vitamin B 2, vitamin C, dietary fiber were 820.84 kcal, 32.79 g, 164.18 mg, 7.84 mg, 4.71 mg, 23.07 μgRAE, 0.41 mg, 0.35 mg, 20.47 mg, 2.34 g, 37.56% of energy from fat and 48.47% of energy from carbohydrate. The supply of vitamin B 1 was basically the same as the recommended amount ( P >0.05). There were no significant differences in all kinds of food and nutrients between urban and rural primary schools ( P >0.05). Conclusion Lunch supply is not optimistic in public primary school canteens in Zhejiang Province, with unreasonable structure and fails to agree with current nutritional recommendations. It is suggested that the scientific guidance of students meals should be carried out according to the survey results combined with the characteristics of local diet.

Objective:To investigate the value of logistic regression model based on the features of cone-beam breast CT (CBBCT) for the identification of benign and malignant masses in dense breast.Methods:The data of 106 patients (130 masses) with dense breast who underwent contrast-enhanced CBBCT examination and obtained pathological results from May 2011 to August 2020 were retrospectively analyzed as the training set. From August 2020, the data of 49 patients (54 masses) who met the same criteria were prospectively and consecutively collected and used as the validation set. Taking pathological results as the gold standard, the training set was divided into benign and malignant groups. The t-test, χ 2 test and Fisher′s exact test were used to compare the differences in CBBCT image characteristics between the two groups in the training set. A binary logistic regression model was established by multivariate analysis. ROC curves were used to assess the diagnostic efficacy of the model as a whole in the training and validation sets and the diagnostic efficacy of each feature in the model, and the cut-off value of the intensity (ΔCT) value was determined. The H-L method was used to test the goodness of fit of the model. Decision curve analysis (DCA) was drawn to validate the clinical power of the model. Results:Univariate analysis showed that the breast parenchymal background enhancement (BPE), shape, margin, lobulation, spiculation, density, calcifications, ΔCT value, enhancement pattern, non-mass enhancement, ipsilateral increased vascularity (IIV), and peripheral vascular signs had statistical difference between benign group and malignant group ( P<0.05). BPE, margin, ΔCT value and IIV were included in the multivariate analysis, the equation was logit( P′)=-8.510+0.830×BPE+0.822×margin+1.919× ΔCT+1.896 × IIV. The are a under curve of the model in the training set was 0.879 ( P<0.001) and in the validation set was 0.851 ( P=0.001). The are a under curve of BPE, margin, ΔCT value, and IIV in the diagnosis of malignant mass were 0.645, 0.711, 0.712, 0.775 (all P<0.05); the best cut-off value of ΔCT was 50.38 HU. The fit of this model was good ( P = 0.776). The DCA curve showed that when the risk threshold was 0.05-0.97, the net benefit rate was>0, and this model had some clinical value. Conclusion:The logistic regression model based on the features of CBBCT is helpful to distinguish benign and malignant masses in dense breasts.

OBJECTIVE： To investigate the feasibility of multi-payment for drugs for rare diseases and also provide reference for rare disease treatment and the formulation of related policy. METHODS： Taking Gaucher’s disease in Qingdao as an example， the relevant medical insurance policies and drug supply were analyzed； according to the sources of financing， the economic burden of treatment drugs for patients with Gaucher’s disease in Qingdao was estimated. Based on the average total cost of patients with Gaucher’s disease in Qingdao， the drug cost burden of patients with Gaucher’s disease in the whole country was simulated according to the relevant epidemiological survey data， and the problems of medical insurance model for rare diseases in Qingdao were analyzed. RESULTS & CONCLUSIONS： A series of medical insurance policies were formulated in Qingdao. The financing mode of medical insurance includes social funds （from Qingdao Charity Federation， drugs are provided by pharmaceutical manufacturers）， medical insurance funds （used for personal self-payment assistance within the scope of medical insurance co-ordination） and civil assistance （used for assistance outside the scope of medical insurance co-ordination）. Imidase is currently the only approved specific drug for Gaucher’s disease in China. The designated physician， treatment and drug-taken system is adopted in Qingdao. By the end of 2017， the annual drug consumption of 8 patients in Qingdao was 38-170 bottles， totaling 686 bottles. The annual cost of treatment ranged from 786 600 to 3 519 000 yuan， totaling 1 420 200 yuan. The self-paid expenses ranged from 9 800 to 197 400 yuan （the self-paid ratio ranged from 0.46％ to 8.87％）， totaling      661 400 yuan. The reimbursement cost by supplementary medical insurance was 509 800 to 1 789 800 yuan （accounting for 54.59％ to 65.94％）， totaling 8 577 800 yuan. Three patients received civil assistance， the amount of which ranged from 23 100 to 13 000 yuan （accounting for 1.89％ to 4.18％）， totaling 241 400 yuan. According to the relevant epidemiological survey data （the prevalence rate was 0.15 per 100 000）， it is estimated that there are about 2 093 patients with Gaucher’s disease in China. Referring to Qingdao multi-payment model， it is estimated that the total cost of drugs for Gaucher's disease in China is about 3.715 billion yuan， charitable assistance can bear 1.238 billion yuan， while medical insurance expenditure is about 2.255 billion yuan， and individual self-payment is about 222 million yuan. From the point of view of drug cost burden， the multi-payment model in Qingdao has lightened the personal burden of patients’ has achieved significant results. There are problems in Qingdao’s multi-payment model， such as “medical insurance immigration”， low drug accessibility， drug price monopoly， three-level disease prevention needs to be strenghten， etc. The state or provinces and cities can refer to Qingdao model when formulating policies related to rare diseases. Great importance should be paid attention to the existing problems.

Objective: To investigate the association between dietary selenium intake and hypertension among Zhejiang residents . Methods: By multistage stratified random sampling method,four urban sites and two rural sites out of Zhejiang Province,four communities or villages out of each site,then 20 households out of each community or village were selected,and all the family members of the selected households were recruited as participants. The questionnaire of Chinese Health and Nutrition Survey was used to collect information about socio-demographic characteristics and dietary selenium intake. The blood pressure,blood lipid and other data were collected via physical examination. A multivariate logistic regression model was used to analyze the relationship between dietary selenium intake and hypertension . Results: A total of 1 222 participants with complete dietary selenium intake data were included for analysis. The number（%）of participants with selenium intake higher than the level of estimated average requirement（EAR）,between the levels of EAR and recommanded nutrient intake （RNI）,between the levels of RNI and upper intake（UI）and higher than the level of UI were 729 （59.66%）,151（12.36%）,341（27.91%）and 1（0.01%）,respectively. There were 283 （30.53%）patients with hypertension out of 927 participants examined. The mean amount of selenium intake in patients with hypertention was（43.06±20.96）μg/d,which was significantly lower than（51.56±30.06） μg/d in non-hypertention participants（P<0.05）. After adjusting for age,body mass index,total cholesterol,triglyceride and diabetes mellitus in the multivariate logistic regression model,dietary selenium intake significantly reduced the risk of hypertension（OR=0.985,95%CI：0.978-0.993） . Conclusion About 60% of residents in Zhejiang Province had lower dietary selenium intake than estimated average requirement. Higher selenium intake was associated with lower risk of hypertension.

Objective To verify a method of calculation and prediction by screening the antibacterial components of classical Chinese medicinal herbs (TCM) for anti tuberculosis, and preliminarily evaluate the anti tuberculosis effect of the selected components. Methods The components database of Stemona, Bletilla striata and Chuanbei was established. Dock method was used to predict the anti tuberculosis components from the database, and then mycobacterium smegmatis, MIC and inhibition zone methods were used to evaluate the anti-tuberculosis effect of these predicted components. Results Three ingredients were selected. In vitro experiments also showed that the selected ingredients had the effect of anti-mycobacterium smegmatis by MIC and inhibition zone . Conclusions The virtual screening method could decrease consumption and increase the efficiency of finding anti-tuberculosis ingredients of TCM.

The ultimate goal of synthetic biology is to build customized cells or organisms to meet specific industrial or medical needs. The most important part of the customized cell is a synthetic genome. Advanced genomic writing technologies are required to build such an artificial genome. Recently, the partially-completed synthetic yeast genome project represents a milestone in this field. In this mini review, we briefly introduce the techniques for de novo genome synthesis and genome editing. Furthermore, we summarize recent research progresses and highlight several applications in the synthetic genome field. Finally, we discuss current challenges and future prospects.
Animals ; CRISPR-Cas Systems ; Gene Editing ; methods ; Genetic Engineering ; methods ; Genome, Human ; High-Throughput Nucleotide Sequencing ; Humans

Objective: To explore the treatment effect of pedicled myocutaneous island flap of anterolateral thigh muscle on the suprapubic defect caused by bladder exstrophy in children. Methods: The clinical data of 3 adolescents with bladder exstrophy were analyzed. All 3 cases underwent one-stage Kelly procedure and received the treatment using pedicled myocutaneous island flap of anterolateral thigh muscle to repair the suprapubic defect. The bladder expansion was performed with ileal sarcoplasmic layer graft, and the Cohen ureteral reimplantation was performed as well, for 1 case 1, 1 year after the first operation. The others 2 patients didn′t receive the second operation. Results: All operations were successful. The femoral donor regions were directly closed. Postoperative follow-up period was 1-7 years. The myocutaneous island flaps were survived and grew well. All incisions of the femoral donor region were primary healing without scar hypertrophy. Urinary continence was achieved in 2 cases, and partially achieved in 1 case. Recurrent urinary tract infection, recurrent fever or abdominal pain were not observed in all patients. Conclusions The pedicled anterolateral thigh myocutaneous island flap is an alternative way to repair suprapubic defect caused by bladder exstrophy.