Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder caused by the lack of expression of genes associated with the 15q11.2-q13 region of the paternal chromosome.There are three main types of genetic mechanisms, deletion of the paternal critical region, maternal uniparental disomy and imprinting center defect.Genetic counseling can be carried out based on different genetic mechanisms of PWS, both re-fertility assessments and prenatal diagnoses were performed on couples whose children have already had the disease.The pathogeny and mechanism of PWS are complex.The rapid development of molecular genetics and related research have provided a basis for further understanding of this disease.In this paper, the advances in the genetics of PWS were reviewed.

Objective:To explore the association between the CYP21A2 genotype and the virilization severity in girls with classic 21-hydroxylase deficiency (21-OHD), so as to further the understanding of virilization in females and provide guidance for prenatal diagnosis and genetic counseling. Methods:A total of 23 patients with two X chromosomes (46, XX) who were newly diagnosed with classic 21-OHD in Wuhan Children′s Hospital from August 2010 to March 2019 were included.These patients were divided into 3 groups according to the Prader grades of the degree of external genitalia masculinization.The 17-hydroxyprogesterone (17-OHP) level, androstenedione (AND) level, testosterone (T) level, dehydroepiandrosterone sulphate (DHEAS) level and genotypes were recorded.The gene mutations were divided into the Null group(the enzyme activity was completely impaired), group A(1% of the normal enzyme activity was retained), group B(2% of the normal enzyme activity was retained) and group C(20%-60% of the normal enzyme activity was retained). The correlation between the gene variation of different Prader grades and the corresponding gene groups were analyzed.Results:All 23 girls showed different degrees of external genitalia masculi-nization.There was a significant positive correlation between the Prader grades and the type of gene variation ( rs=0.696, P<0.001). The gene group A and Null group were highly matched with the Prader Ⅳ(the matching rate: 77.8%). Eighty percent of girls with Prader Ⅱ and Prader Ⅲ were classified as the gene group B. The testosterone le-vel of girls with Prader Ⅳ at first diagnosis was significantly higher than that of girls with Prader Ⅱ [4.6(4.0, 15.0)μg/L vs.0.63(0.40, 1.39)μg/L]( χ2=15.117, P<0.05). Conclusions:There is a significantly positive and strong correlation between the degree of external genitalia masculinization and the degree of deficiency of enzyme activity caused by gene variation in girls with typical 21-OHD.It can provide reference for both parents carrying CYP21A2 gene in prenatal diagnosis, genetic counseling and individualized diagnosis and treatment.

Objective To look for and confirm the downstream regulated gene of microRNA (miRNA)-148a in pancreatic cancer cell line.Methods The target gene regulated by miRNA-148a was predicted through bio-informatics analysis.The plasmid containing desired gene and with luciferase 3'-untranslated region (3'-UTR) reporter was constructed.Pancreatic cancer cells BXPC-3 were transfected with analogs and inhibitors of miRNA-148a by liposomes.The activity of luciferase was measured to determine whether miRNA-148a directly connected with desired gene.The expression level of miRNA-148a was changed in BXPC-3 cells,and the changes of target gene v-verb-b2 erythroblastic leukemia viral oncogene homolog 3 (awian) (ErbB3) expression were detected by Western blot at protein level.The data were analyzed by one way ANOVA.Results There was a conservative binding site of ErbB3 with miRNA-148a detected by bio-informatics analysis,miRNA-148a directly combined with ErbB3 and the activity of luciferase decreased to (25.00+47.00) ％ of the negative control (F=4.66,P＜ 0.01).After miRNA-148a overexpression,the gray value of ErbB3 expression in BXPC-3 cells decreased to (26.16±4.69)％ of control group (F=6.563,P＜0.05).Conclusion miRNA-148a directly targeted and regulated the expression of ErbB3 in pancreatic cancer cell line BXPC-3.

A growing number of studies show that drug and non-drug means can be activated phosphatidyl inositol-3-kinase serine/threonine kinase(PI3K/Akt signaling pathway)in the beginning of reperfusion, and make its downstream fork protein transcription factor O3a (FoxO3a) phosphorylation, and then promote cell survival and reduce the apoptosis so as to alleviate the symptoms of myocardial ischemia.In this paper,the role of PI3K/Akt and FoxO3a effector in myocardial ischemia was reviewed, and illustrated the role of PI3K/Akt/FoxO3a signaling pathway in myocardial ischemia.

One hundred and seventy-two strains of endophytic fungi were isolated from Taxus mairei,Cephalotaxus fortunei and Torreya grandis cv.merrillia.The result of the antifungal assay shows that ninety strains of the fungi have antagonism against one or more botanical pathogenic fungi,such as Neurospora sp.,Trichoderma sp.,Fusarium sp.etc.The percentage of antifungal strains to tested strains are as follows:40% Cephalotaxus fortunei,54.2% Taxus mairei,57.1% Torreya grandis cv.merrillia.Thirty-five strains have high antifungal activities,and their inhibition zone diameter is at least 15mm.The active endophytic fungi were identified as 18 genera,most of which belong to Paecilomyces and Fusarium etc.

Objective To compare the efficacy and efficiency of simulation-based training of flexible fibreoptic intubation in novices with virtual reality simulator.Methods A total of 46 anaesthesia residents in their first stage of training in anaesthesiology with no experience in flexible fibreoptic intubation at Peking University People's Hospital were enrolled in the study,and were divided into 2 groups randomly,which were virtual reality simulator group (group S,n=23) and manikin group (group M,n=23).The group S was then trained for 25 times on simulator,while the group M did the same processes on manikin.After training,participants in both groups had their performance assessed with the fibrescope evaluated through the oral route using a simulation manikin,who were instructed to attempt to advance the fibrescope 5 consecutive times to view the carina in the shortest amount of time.The time required to view the carina of each practice during training in both groups were recorded as pooled data to construct group learning curves with the application of SPSS 20.0.By using repeated measures analysis of variance and Ttest,the procedure time and global rating scale (GRS) of fibreoptic bronchoscope manipulation ability were compared between groups,so did the participant's confidence between before and after the training both within-subjects and between-subjects.Results The plateaus in the learning curves were achieved after 19 (15,26) practice sessions in group S and 24 (19,31) in group M,respectively.There was no significant difference in the procedure time [(13.7 ± 6.6) s and (11.9 ±4.1) s] and GRS [(3.9 ±0.4) vs.(3.7 ±0.3)]between groups.There were significant increases in participant's confidences in both groups after training [group S:(1.8 ± 0.5) vs.(3.9 ± 0.6),t=10.928,P=0.000;group M:(2.0 ± 0.7) vs.(3.9 ± 0.5),t=15.306,P=0.000],but there was no significant difference between groups.Conclusion The simulation-based training of flexible fibreoptic intubation in novices with virtual reality simulator is more efficient than the one with manikin,but the similar effects can be achieved in both modalities,after adequate trainings.In the related training a balance between time cost and economic cost should be considered and the appropriate teaching methods and forms should be taken.

OBJECTIVE: To observe the effect of hypothermia plasma radiofrequency ablation to the adhesion of nasal cavity after radiotherapy of nasopharyngeal carcinoma. METHOD: The subjective score combined with nasal ventilation function test were used to reflect the degree of patients with nasal adhesion. RESULT: There is a significant improvement in subjective feeling after treatment. Nasal cavity volume began to increase and nasal expiratory resistance decrease obviously 3M later. CONCLUSION Hypothermia plasma radiofrequency ablation technology can improve the nasal cavity adhesion in patients with nasopharyngeal carcinoma after radiotherapy, and also the patients quality of life.
Carcinoma ; Catheter Ablation ; methods ; Female ; Humans ; Hypothermia, Induced ; Male ; Nasal Cavity ; Nasopharyngeal Carcinoma ; Nasopharyngeal Neoplasms ; radiotherapy ; Nose ; Nose Diseases ; surgery ; Quality of Life ; Tissue Adhesions ; surgery

Objective:To explore the clinical efficacy of sinew-regulating and bone-setting manipulation combined with functional exercise to treat mild to moderate rotator cuff injury (RCI).Methods:Forty patients with mild to moderate RCI were randomly divided into a treatment group and a control group,with 20 cases in each group.The treatment group was given sinew-regulating and bone-setting manipulation combined with functional exercise,and the control group was given the same manipulation as the treatment group.The therapeutic effect on the functional improvement was assessed after treatment according to pain threshold,shoulder range of motion (ROM) including flexion,abduction,internal rotation and external rotation,and the University of California at Los Angeles (UCLA) shoulder rating score.Results:Compared with the same group before treatment,the pain threshold,shoulder flexion,abduction,internal and external rotations increased after the treatment in the two groups (all P＜0.05).The UCLA shoulder rating score increased (both P＜0.05).The improvement in the treatment group is significantly better than that in the control group with a statistical significance (P＜0.05).The total effective rate was 95.0％ in the treatment group,was higher than 65.0％ in the control group (P＜0.05).Conclusion:The sinew-regulating and bone-setting manipulation combined with functional exercise relieve the pain of patients with mild to moderate RCI,increase the motion of shoulder joints,and improve the quality of life of patients.The curative effect is better than the treatment of simple sinew-regulating and bone-setting manipulation.

Objective To investigate the circulating microRNAs carrier in pancreatic cancer.Methods Pancreatic cancer cell lines SW1990 and BxPC3 were routinely cultured and serum of 6 patients with pancreatic cancer and 6 healthy subjects (control group) were collected.Serum and pancreatic cancer cell line supernatant microvesicles (MV) were obtained by gradient centrifugation.The expression of Ago2,CD63 was detected by Western blotting,the expression of microRNA in microvesicle section and microvesicle-free section in serum was detected by using quantitative PCR method.Results The supernatant MV of pancreatic cancer cell lines expressed Ago2,CD63 protein,and these MV carried different microRNAs in different cell lines.In the serum of pancreatic cancer and control group,miR-20a,miR-21,miR-24,miR-25,miR-191,miR-483-5p were detected,but the quantity was relatively higher in MV section,and the expression of microRNAs in pancreatic cancer's MV was inconsistent with that of control group.The expression of miR-20a,miR-24,miR-191 in pancreatic cancer group was (2.93 ± 0.29),(2.73 ± 0.46),(2.39 ± 0.51) times as much as those in control group,and the difference between the two groups was statistically significant (F =75.97,25.80,12.94,P ＜ 0.05 or ＜ 0.01).Conclusions The main circulating microRNAs carrier in pancreatic cancer is microvesicle.

[ ABSTRACT] AIM:To investigate the effect of oxidized low-density lipoprotein ( ox-LDL) on autophagy in mac-rophages and the underlying molecular mechanisms.METHODS:RAW264.7 macrophages were pretreated with 2 mg/L anti-CD36 monoclonal antibody (anti-CD36 mAb), 5 μmol/L diphenyleneiodonium (DPI), 3 mmol/L 3-methyladenine (3-MA) or 1μmol/L rapamycin for 1 h and then treated with ox-LDL (100 mg/L) for 12 h.The viability of the cells was measured by MTT assay.The activities of lactic dehydrogenase ( LDH) in the medium and nicotinamide adenine dinucleoti-de phosphate ( NADPH) oxidase, superoxide dismutase ( SOD) in the cells as well as the levels of intracellular reactive ox-ygen species ( ROS) and malondialdehyde ( MDA) were determined to characterize the membrane integrity and the oxida-tive stress, respectively.The protein levels of beclin-1 and microtubule-associated protein 1 light chain 3-II ( LC3-II) , 2 important molecular markers of autophagy, were examined by Western blotting.RESULTS:ox-LDL induced autophagy in
RAW264.7 macrophages as assessed by upregulation of beclin-1 and LC3-II.Similar to 3-MA, an autophagy inhibitor, an-ti-CD36 mAb significantly inhibited the ox-LDL-induced upregulation of beclin-1 and LC3-II.Anti-CD36 mAb suppressed the ox-LDL-induced oxidative stress as revealed by decreased NADPH oxidase activation, ROS and MDA generation as well as increased SOD activity.Similar results were observed in the cells pretreated with DPI, a NADPH oxidase inhibitor.Mo-reover, DPI significantly inhibited the ox-LDL-induced upregulation of beclin-1 and LC3-II.Inaddition, the decrease in the cell viability and increase in LDH release induced by ox-LDL were promoted by 3-MA and blocked by rapamycin ( an auto-phagy inducer).CONCLUSION: ox-LDL induces autophagy in RAW264.7 macrophages, which may be involved in CD36-mediated ox-LDL uptake and subsequent activation of oxidative stress, and moderate activation of autophagy may pro-tect macrophages from ox-LDL-induced injury.