At present， there is little research on the new teaching mode for the practice course of epidemiology. Based on the situation， this paper mainly discussed how the MOOC （Massive Open Online Course）-based multi-teaching mode was applied to the practice course of Epidemiology. The structure of this multi- teaching mode consisted of case base construction， class preparation， class presentation and learning evaluation. Thus， MOOC， flipped Class Mode and other new teaching modes were integrated into traditional face-to-face teaching. In addition， this paper also demonstrated the implementation of the multi-teaching mode in the teaching of preventive medicine. It is worth exploring how to integrate MOOC into the teaching of the practice course of epidemiology in the future.

Background: Automated peritoneal dialysis (APD) can cater to individual needs, provide treatment while asleep, take into account the adequacy of dialysis, and improve the quality of life. Currently, independent research and development of APD machines made in China are more conducive to patients. A randomized, multicenter, crossover study was conducted by comparing an APD machine made in China with an imported machine. The safety, effectiveness, and manipulability of the two machines were compared. Methods: Two hundred and sixty patients who underwent peritoneal dialysis (PD) on a regular basis in 18 centers between August 2015 and February 2016 were included. The inclusion criteria include age ≥18 years and PD ≥30 days. The exclusion criteria were as follows: hemodialysis; exit site or tunnel infection; and peritonitis ≤30 days. The patients were randomly divided into Group A, who were first treated with a FM machine made in China, then changed to an imported machine; and Group B, who were treated using the reverse sequence. APD treatment was performed with 10 L/10 h and 5 cycles of exchange. After 72 h, the daily peritoneal Kt/V, the accuracy of the injection rate, accuracy of the injection temperature, safety, and manipulability of the machine were assessed. Noninferiority test was conducted between the two groups. Results: The daily peritoneal Kt/V in the APD machine made in China and the imported APD machine were 0.17 (0.14, 0.25) and 0.16 (0.13, 0.23), respectively. There was no significant difference between the groups (Z = 0.15, P = 0.703). The lower limit of the daily Kt/V difference between the two groups was 0.0069, which was greater than the noninferiority value of -0.07 in this study. The accuracy of the injection rate and injection temperature was 89.7% and 91.5%, respectively, in the domestic APD machine, which were both slightly better than the accuracy rates of 84.0% and 86.8% in the imported APD machine (89.7% vs. 84.0%, P = 0.2466; 91.5% vs. 86.8%, P = 0.0954). Therefore, the APD machine made in China was not inferior to the imported APD machine. The fuselage of the imported APD machine was space-saving, while the APD machine made in China was superior with respect to body mobility, man-machine dialog operation, alarm control, and patient information recognition. Conclusions: The FM machine made in China was not inferior to the imported APD machine. In addition, the FM machine made in China had better operability. Trial Registration Clinicaltrials.gov, NCT02525497; https://clinicaltrials.gov/ct2/results?cond=&term=NCT02525497&cntry=& state=&city=&dist=.
Adult ; China ; Cross-Over Studies ; Female ; Humans ; Male ; Middle Aged ; Multicenter Studies as Topic ; Peritoneal Dialysis ; adverse effects ; instrumentation ; methods ; Quality of Life ; Temperature

BACKGROUNDNonsyndromic hearing loss (NSHL) is highly heterogeneous, in which more than 90 causative genes have currently been identified. DFNA5 is one of the deafness genes that known to cause autosomal dominant NSHL. Until date, only five DFNA5 mutations have been described in eight families worldwide. In this study, we reported the identification of a novel pathogenic mutation causing DFNA5 deafness in a five-generation Chinese family.

METHODSAfter detailed clinical evaluations of this family, the genomic DNA of three affected individuals was selected for targeted exome sequencing of 101 known deafness genes, as well as mitochondrial DNA and microRNA regions. Co-segregation analysis between the hearing loss and the candidate variant was confirmed in available family members by direct polymerase chain reaction (PCR)-Sanger sequencing. Real-time PCR (RT-PCR) was performed to investigate the potential effect of the pathogenic mutation on messenger RNA splicing.

RESULTSClinical evaluations revealed a similar deafness phenotype in this family to that of previously reported DFNA5 families with autosomal dominant, late-onset hearing loss. Molecular analysis identified a novel splice site mutation in DFNA5 intron 8 (IVS8+1 delG). The mutation segregated with the hearing loss of the family and was absent in 120 unrelated control DNA samples of Chinese origin. RT-PCR showed skipping of exon 8 in the mutant transcript.

CONCLUSIONSWe identified a novel DFNA5 mutation IVS8+1 delG in a Chinese family which led to skipping of exon 8. This is the sixth DFNA5 mutation relates to hearing loss and the second one in DFNA5 intron 8. Our findings provide further support to the hypothesis that the DFNA5-associated hearing loss represents a mechanism of gain-of-function.

Adult ; Deafness ; genetics ; Exons ; genetics ; Female ; Hearing Loss ; genetics ; Hearing Loss, Sensorineural ; genetics ; Humans ; Male ; Middle Aged ; Mutation ; genetics ; Young Adult

BACKGROUNDA multi-center large scale study is needed to confirm the efficacy and safety of domestic peritoneal dialysis (PD) solutions. Some researchers believe that 6 L/d is enough for adequate dialysis, but there is no multi-center prospective study on Chinese population to confirm this. In this study, we evaluated the efficacy and safety of domestic PD solution (Changfu) and its difference between 6 L and 8 L dosage.

METHODSAdult PD patients who had taken PD therapy for at least one month were selected and divided into four groups according to two dialysis solution brands and two dialysis dosages, i.e., 6 L dose with Changfu dialysis solution, 6 L dose with Baxter dialysis solution, 8 L dose with Changfu dialysis solution, and 8 L dose with Baxter dialysis solution. After 48 weeks, the changes of primary and secondary efficacy indices were compared between different types and different dosages. We also analyzed the changes of safety indices.

RESULTSChanges of Kt/V from baseline to 48 weeks between Changfu and Baxter showed no statistical differences; so did those of creatinine clearance rate (Ccr). Normalized protein catabolic rate (nPCR) from baseline to 48 weeks between Changfu and Baxter showed no statistical differences; so did those of net ultrafiltration volume (nUF) and estimated glomerular filtration rate (eGFR). Changes of nPCR from baseline to 48 weeks between 6 L and 8 L showed no statistical differences; so did those of nUF and eGFR. The decline of Kt/V from baseline to 48 weeks in 6 L group was more than that in 8 L group. Change of Ccr was similar. During the 48-week period, the mean Kt/V was above 1.7/w, and mean Ccr was above 50 L×1.73 m(-2)×w(-1). More adverse events were found in Changfu group before Changfu Corporation commenced technology optimization, and the statistical differences disappeared after that.

CONCLUSIONSThe domestic PD solution (Changfu) was proven to be as effective as Baxter dialysis solution. During 48-week period, a dosage of 6 L/d was enough for these patients to reach adequate PD. Clinical study promotes technological optimization, further helps to improve the safety indices of the medical products.

Adolescent ; Adult ; Aged ; Dialysis Solutions ; therapeutic use ; Female ; Humans ; Male ; Middle Aged ; Peritoneal Dialysis ; methods ; Young Adult

OBJECTIVETo investigate the association of the polymorphisms of methionine metabolism genes and the phenotype of X-linked adrenoleukodystrophy (X-ALD) and clinical severity.

METHODSThe clinical information of 120 X-ALD patients were analyzed and three genetic variants involved in the methionine metabolism, including cystathionine beta-synthase (CBS) c.844_855ins68, 5-methyltetrahydrofolate-homocysteine-S-methyltransferase (MTR) c.2756A to G, and transcobalamin 2 (TC2) c.776 C to G were analyzed by polymerase chain reaction and sequencing. The association between these polymorphisms and phenotype of X-ALD was studied.

RESULTSThe frequency of GG genotype of the TC2 c.776 C/G was higher in patients with central nervous system(CNS) demyelination than in controls (P= 0.012). However, the other two polymorphisms did not show any significant associations with the phenotypes.

CONCLUSIONThe GG genotype of TC2 c.776 C/G may contribute to X-ALD phenotype.

5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase ; genetics ; Adrenoleukodystrophy ; genetics ; Cystathionine beta-Synthase ; genetics ; Gene Frequency ; Genotype ; Humans ; Male ; Methionine ; metabolism ; Phenotype ; Polymorphism, Genetic ; Transcobalamins ; genetics

Objective To observe the injury and repair of the subepithelial cordectomy by CO2 laser in different power.Methods Thirty dogs were randomly divided into 5 groups according to different laser power such as A(1 W),B(3 W),C(5 W),D(8 W),E(cold instruments),6 dogs in each group.Subepithelial cordectomy was performed on the dogs and the tissue damage and wound recovery were observed in different time after operation.Results The mucosa reaction in group C,D was heavier than those in group A,B,E,and the wounds healed slowly with visible pathological scars.The densities of fibroblast and blood capillary were determined with optical microscope.It was found that those in group C,D were higher than those in group A,B,E.The difference was statistically significant(average P ＜ 0.05).Observation by electron microscope showed that the injuries were lighter in group A,B,E and there was no significant difference in vocal cord repair process,while the injuries were more serious in group C,D with few elastic fibers in lamina propria and collagen fibers increased significantly after vocal cord repairing.Conclusion The tissue repair after subepithelial cordectomy by CO2 laser with low power(1-3 W)was similar to that by cold instrument surgery.

OBJECTIVETo identify the parental origin of methyl-CpG-binding protein 2 (MECP2) gene mutations in Chinese patients with Rett syndrome.

METHODSSingle nucleotide polymorphisms (SNPs) in intron 3 of the MECP2 gene were analyzed by PCR and sequencing in 115 patients with Rett syndrome. Then sequencing of the SNP region was performed for the fathers of the patients who had at least one SNP, to determine which allele was from the father. Then allele-specific PCR was performed and the products were sequenced to see whether the allele from father or mother harbored the mutation.

RESULTSSeventy-six of the 115 patients had at least one SNP. Three hot SNPs were found in these patients. They were: IVS3+22C >G, IVS3+266C >T and IVS3+683C>T. Among the 76 cases, 73 had a paternal origin of MECP2 mutations, and the other 3 had a maternal origin. There were multiple types of MECP2 mutation of the paternal origin, including 4 frame shift, 2 deletion and 67 point (56C >T, 6C >G, 2A >G, 2G >T and 1A >T) mutations. The mutation types of the 3 patients with maternal origin included 2 frame shift and 1 point (C >T) mutation.

CONCLUSIONIn Chinese RTT patients, the MECP2 mutations are mostly of paternal origin.

Base Sequence ; Child, Preschool ; DNA Mutational Analysis ; Fathers ; Female ; Humans ; Male ; Methyl-CpG-Binding Protein 2 ; genetics ; Mothers ; Mutation ; genetics ; Parents ; Polymorphism, Single Nucleotide ; Rett Syndrome ; genetics

Adult ; Female ; Humans ; Hysterectomy ; Leiomyoma ; diagnosis ; Middle Aged ; Muscle Neoplasms ; complications ; surgery ; Uterine Neoplasms ; complications ; surgery

OBJECTIVERett syndrome (RTT) is a neurodevelopmental disorder that represents one of the most common genetic causes of mental retardation in girls. The aim of this study was to investigate the correlation between MECP2 genotype and phenotype and thereby not only to provide assistance for clinical care, but also facilitate clinical genetic counseling.

METHODIndividual phenotype characteristic and clinical severity of 126 children with RTT diagnosed by molecular genetic methods were evaluated by using scales of Kerr et al and Scala et al. Statistical package SPSS 12.0 was used for analyses of data. Since the majority of the data were not normally distributed, non-parametric tests were used. The Kruskal-Wallis test/Wilcoxon Mann-Whitney test was employed to compare total severity phenotype scores. The Fisher exact test was used for comparing rates. Statistical significance was set at P < 0.05.

RESULTThere were no significant differences in the average overall scores for RTT patients with mutations in the region of methyl-CpG-binding domain (MBD) compared with those mutations in the transcription repression domain (TRD) and C terminal segment (CTS), also patients with nonsense mutations compared with missense mutations, frameshift mutations and large deletions (P > 0.05). The RTT patients with nonsense mutations located in the region of MBD have more severe phenotype than those with missense mutations in the same region (P = 0.016). Among p.T158M, p.R168X, c.806delG and p.R255X, there were no significant differences in the average overall scores (P > 0.05), but there were significant differences in language skill (P = 0.028) and in language impairment rate at different level (P = 0.019).

CONCLUSIONThere are relationships between MECP2 genotype and phenotype:the RTT patients with nonsense mutations located in MBD tend to develop more severe phenotype;there are significant differences in language skill and language impairment rate in the groups with p.T158M, p.R168X, c.806del and p.R255X, which had higher frequency in children below five-years of age and the p.R168X present with most severe impairment.

Adolescent ; Child ; Child, Preschool ; Female ; Genotype ; Humans ; Infant ; Methyl-CpG-Binding Protein 2 ; genetics ; Phenotype ; Rett Syndrome ; genetics