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Objective:To detect pathogenic mutations in 2 patients with Sj?gren-Larsson syndrome.Methods:Clinical data were collected from 2 children with Sj?gren-Larsson syndrome, who were diagnosed and treated in Department of Dermatology, Capital Institute of Pediatrics, and genetic testing was performed to clarify their pathogenic mutations.Results:Both the 2 patients presented with typical ichthyosis-like skin manifestations, accompanied by a certain degree of intellectual disorder and growth, development and motor retardation. A previously reported homozygous mutation c.1157A>G was identified in the ALDH3A2 gene in case 1; compound heterozygous mutations c.1157A>G and c.1309A>T were identified in the ALDH3A2 gene in case 2, which were considered as novel pathogenic mutations.Conclusion:Genetic testing should be performed as early as possible in patients with suspected Sj?gren-Larsson syndrome, in order to facilitate early definite diagnosis.
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Adding biological passivation agent during composting is one of the most effective ways to reduce the toxicity of heavy metals in contaminated livestock manure. To further improve biological passivation, we obtained a strain with high-heavy metal compounds tolerance to passivate heavy-metal contaminated manure and to characterize heavy-metal biosorption. High-tolerance microorganisms for lead and cadmium were isolated and screened from swine manure composting samples. The strain was identified by its morphology and molecular biology. After the influence of different pH, temperature and salt concentrations on growth of the strain were investigated, the optimal growth conditions were obtained for further analysis of its biosorption characteristics of lead and cadmium. The bacterium with tolerance to lead and cadmium termed SC19 was obtained, whose lead resistance was 600 mg/L and cadmium resistance was 120 mg/L. The isolate was further identified as Cedecea sp., and then its optimum pH was 7.0, temperature was 37 °C, and salt concentration was 0.5%. Lead removal was highest after 30 min of adsorption by the SC19 strain cultured for the stationary phase 36 h, and the maximum removal rate and biosorption capacity of lead were 60.7% and 329.13 mg/g, respectively. Meanwhile, cadmium removal was highest after 30 min of adsorption by the strain cultured for the logarithmic phase 8 h, and the maximum removal rate and biosorption capacity of cadmium were 51.0% and 126.19 mg/g, respectively. Fourier Transform InfraRed (FT-IR) results revealed that the biosorption process mainly happened on the surface of SC19 cell and many active groups on the cell surface could chelate the Pb²⁺ and Cd²⁺. By comprehensive comparison, it was showed that strain SC19 shared a certain capacity of Pb²⁺ and Cd²⁺ biosorption, and the bacterium provided precious microbial germplasm resources for biological passivation of heavy metal contaminated manure.
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Objective To explore the effect of continuous quality improvement in reducing intravenous catheter-related bloodstream infection(CRBSI) in patients with hemodialysis.Methods 90 patients with hemodialysis were selected as the research subjects .The hospital began to implement continuous quality improvement in May 2016, 45 hemodialysis patients from May 2015 to May 2016 were selected as the control group ,and 45 hemodialysis patients from June 2016 to February 2017 were selected as the study group.The incidence of CRBSI,length of hospital stay,etc were compared between the two groups .Results The incidence rate of CRBSI in the study group was 2.22%,which was obviously lower than 17.78% in the control group (χ2 =5.921,P <0.05).The complaints and death events , duration of CRBSI,treatment costs and length of stay of the study group were better than those of the control group [0.00% vs.6.67%,0.00% vs.8.89%,(5.96 ±0.52)d vs.(16.35 ±0.24)d,(26.98 ±1.85)d vs.(43.62 ± 2.58)d,(0.85 ±0.03)million yuan vs.(2.53 ±0.01)million yuan,χ2 =3.857,3.987,t =5.821,5.821,5.741,all P <0.05].Conclusion The application of continuous quality improvement can reduce the incidence of venous CRBSI in hemodialysis patients,shorten the length of hospital stay and the indwelling time ,reduce the mortality rate, and it has higher application value .
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OBJECTIVE@#To assess the value of proximal gastrectomy (PG) and total gastrectomy (TG) for the treatment of cancer of cardia and fundus.@*METHODS@#Publications on comparision between PG and TG in the treatment of cancer of cardia and fundus were collected, the data from the publications were matched with the PG group and the TG group respectively according to its corresponding surgical resection, and the data on postoperative complications, motality and 5-year survival rate were meta-analyzed by fixed effect model and random effect model.@*RESULTS@#Thirteen reseaches on 2 219 patients were included in this study, 2 of which were randomly controlled studies. There were no significant differences in the postoperative complications (OR=1.00, 95%CI: 0.44-2.28,P>0.05) and mortality (OR=1.25, 95%CI: 0.62-2.48,P>0.05) between the PG group and the TG group, while there was significant difference in the 5-year survival rate (HR=0.87, 95%CI: 0.76-0.99,P=0.04). The 5-year survival rate in the TG group was higher than that in the PG group.@*CONCLUSION@#Total gastrectomy for the treatment of cancer of cardia and fundus has better long-term therapetic effect.