ABSTRACT
Nephronophthisis(NPHP),an autosomal recessive cystic kidney disease,is the most frequent genetic cause for end stage renal failure in the first thirty years of life.NPHP can be caused by Mutations in 22 genes(NPHP1-20,NPHPL1,NPHPL2),with abnormal structure or function of primary cilia,involved in Hh,Wnt,Hippo,DDR signaling pathways.Elucidating the pathogenic genes and possible pathogenesis would make a difference in prevention,diagnosis,treatment,prognosis,and genetic counseling of NPHP.This article reviews the pathogenic genetics and related signaling pathways.
ABSTRACT
Gene knockout by ZFNs (zinc-finger nucleases) is efficient and specific, and successfully applied in more than 10 organisms. Currently, it is unclear whether this technology can be used for knocking-out enhanced green fluorescent protein (EGFP) gene in transgenic goats. Here we constructed and used ZFN-coding plasmids to produce genetic knockouts in the cells of cloned fetus produced from donor cells by microinjection of EGFP gene. Following introduced plasmids into caprine primary cultured fetus fibroblasts by electroporation, targeting of a transgene resulted in sequence mutation. Using the flow cytometric analysis, we confirmed the disappearance of EGFP expression in treated cells. Sequence from PCR products corresponding to targeted site showed that insertion of a G into the exon of EGFP resulted in frame shift mutation. These results suggest that ZFN-mediated gene targeting can apply to caprine fetus fibroblasts, which may open a unique avenue toward the creation of gene knockout goats combining with somatic cell nuclear transfer.
Subject(s)
Animals , Base Sequence , Cloning, Organism , Electrophoresis , Endonucleases , Genetics , Metabolism , Fetus , Fibroblasts , Metabolism , Gene Knockout Techniques , Gene Targeting , Methods , Goats , Green Fluorescent Proteins , Genetics , Molecular Sequence Data , Mutation , Zinc FingersABSTRACT
Objective To investigate the correlation between the early phase insulin secretion index and 72 h continuous glucose levels in patients of impaired glucose tolerance (IGT). Methods According to repeated 75 g oral glucose tolerance test (75 g OGTT) ,62 cases were divided into 2 groups: normal glucose tolerance group (NGT group, 30 cases) and isolated impaired glucose tolerance group (IGT group, 32 cases). Insulin levels were detected and HOMA-IR,HOMA-β , ΔI30/ΔG30,AUCI were calculated. The blood glucose levels were monitored by continuous glucose monitoring system for 72 h. The characteristics of postprandial glucose excursion were studied based on peak postprandial glucose (PPC) concentration, time to PPG (Δt) , postprandial glucose excursion (PPGE) and duration of postprandial glucose excursion (DPE). They were statistically analyzed by SPSS12.0. Results The levels of PPG and PPGE were significantly higher in IGT group (P < 0.05). Δt and DPE delayed obviously in IGT group (P < 0.05). HOM A-IR in IGT group was higher than that in NGT group (1.68 ± 1.03 vs 1.15 ± 0.90, P < 0.01), Δ I30/ΔG30 and HOMA- β was significantly lower in IGT group than that in NGT group (3.85 ± 1.04 vs 6.42 ±1.05,52.97 ± 2.02 vs 55.68 ± 12.45, P < 0.01 or < 0.05). Conclusions Higher postprandial glucose levels are characteristics of IGT patients,and the function of islet β cell after glucose load is impaired more severely. The levels of FPG and 2hPG are positively correlated with insulin resistance, and negatively correlated with islet β cell function.
ABSTRACT
Objective To discuss the influence of nursing intervention on psychological state and glu-cose control of patients with diabetes mellitns before and after intensive treatment of insulin pump. Methods 120 patients who were going to receive intensive treatment of insulin pump were divided into the control group and the observation group with 60 patients in each group by simple random method.The two groups both re-ceivecl routine nursing. The observation group was given psychological intervention along with health education by application of progressive dominant content education method. The psychological state and glucose control of the two groups were compared by χ2 test and t test. Results The score of health knowledge and satisfaction degree with health education in the observation group were higher than those of the control group.The score of anxiety and depression in the observation group decreased more significantly and satisfaction rate of glucose control was higher than that of the control group after 14 days of insulin pump treatment. Conclusions Health education to patients with intensive treatment of insulin pump by application of progressive dominant content education method can make patients to master health knowledge easily.Psychological intervention can alleviate the negative emotion of these patients and facilitate better effect of insulin pump treatment.
ABSTRACT
Objective To investigate the effect of two kinds of permeation enhancers,azone and clove bud oil,on transdermal permeation of Shuxiong cataplasm. Methods Cataplasm containing azone and clove bud oil,at different concentrations were prepared,with ferulic acid as the index,the role of enhancing permeation of azone and clove bud oil for the main active component were studied by in vitro permeation experiments. Results Both azone and clove bud oil at different concentrations could increase permeation. Clove bud oil was better than azone and the best concentration of Clove bud oil is 3%. Meanwhile,the permeation enhancing multiple of clove bud oil group was the highest which was 3.68. Conclusion With the cumulative permeation quantity of ferulic acid as the index,3% clove bud oil is more suitable to act as a permeation enhancer of Shuxiong cataplasm.