Pathogenic gene mutation in a Han Chinese family with hereditary vitreous amyloidosis identified by Sanger sequencing / 临床检验杂志

Objective Our purpose was to investigate the pathogenic gene mutation of a Han Chinese family with vitreous amyloidosis.Methods The 9 individuals(proband,1 affected member and 7 unaffected members) of the family were selected and their DNA was extracted from peripheral blood.The 4 exons of transthyretin(TTR) gene were amplified by polymerase chain reaction(PCR) technique.The amplified products of TTR gene were sequencing by Sanger technique.We also selected 100 unrelated healthy individual as the control group.Results By DNA sequencing,a heterozygous mutation was found in 4 of the 9 subjects from the family.The transition of adenine to cytosine(AAG ＞ ACG) was detectable in exon 2 of TTR,which changed the amino acid composition at codon 35 (Lys35Thr).This mutation did not presented in control group.Conclusion The heterozygosis mutation of TTR gene Lys35Thr should be a pathogenic mutation for the family with vitreous amyloidosis.

Effects of high plasma triglyceride caused by ApoC Ⅲ transgene on ab-dominal aortic aneurysm induced by elastase in LDLR-/-mice / 中国病理生理杂志

AIM:To investigate the effects of high plasma triglyceride (TG) caused by apolipoprotein C Ⅲ( ApoC Ⅲ) transgene on the occurrence and development of abdominal aortic aneurysm ( AAA) .METHODS:The animal models of hypercholesterolemia and hypercholesterolemia combined with hypertriglyceridemia were established by feeding high-fat diet to LDLR-/-and ApoC Ⅲ+LDLR-/-mice, respectively.AAA was induced in these mice by pancreatic elastase. By evaluating the incidence of AAA, relative maximal abdominal aortic diameter, disruption of the elastic lamellar structure and expression of matrix metalloproteinases ( MMPs) in the aorta walls of the AAA, the occurrence and development of AAA were compared in LDLR-/-and ApoC Ⅲ+LDLR-/-mice fed with either chow diet or high-fat diet.In addition, an in vitro TNF-α-induced aneurysmal microenvironment model on vascular smooth muscle cells ( VSMC) was used to study the impact of triglyceride-rich lipoproteins ( TRLs) from mice with normal or high contents of ApoCⅢon elastin protein expres-sion.RESULTS:Feeding the high-fat diet aggravated the severity of AAA in the LDLR-/-mice.ApoC Ⅲ+LDLR-/-mice fed with high-fat diet had less severe AAA than LDLR-/-mice fed with high-fat diet.TRLs inhibited degradation of VSMC elas-tin protein induced by TNF-α, and in vitro TRLs from the mice with high content of ApoC Ⅲ, compared to those with nor-mal content of ApoC Ⅲ, had better inhibitory effect on the degradation of elastin.CONCLUSION:High plasma TG caused by ApoC Ⅲtransgene alleviates AAA of the LDLR-/-mice induced by elastase and high-fat diet.The effect is probably attrib-uted to the hypertriglyceridemia caused by ApoC Ⅲtransgene.

Protective effects of grape polyphenol on pancreatic tissues of mice with caerulein-induced acute pancreatitis / 中国病理生理杂志

AIM:To investigate the effects of grape polyphenol ( GP) on caerulein-induced acute pancreatitis (AP) in mice.METHODS:Two-month-old female mice of ICR strains (n=21) were randomly divided into 3 groups:normal control ( NC) group, AP group, and GP-treated AP group.Before AP induction, the mice in GP-treated AP group were continuously administrated with 1.5 g/kg GP aqueous solution by gavage for 7 d, while those in NC group and AP group were treated with saline as a vehicle control.On the 7th day, the mice in AP group and GP-treated AP group were in-traperitoneally injected with caerulein (50μg/kg) in 1 h interval for 7 serial injections in total.The mice in NC group were treated with saline according to the same procedure in experimental group.All the mice were sacrificed 24 h after AP induc-tion, and the pancreatic tissues and lung tissues were harvested for further investigation of the pathological changes, macro-phages infiltration, myeloperoxidase ( MPO ) activity and expression of inflammatory and oxidative stress factors.RE-SULTS:Compared with AP group, the mice in GP-treated AP group showed milder morphological changes and lower path-ological scores, including the scores of edema, inflammation and vacuolization (P<0.05), but the necrosis scores and to-tal scores showed no statistical difference between these 2 groups.Besides, the mice in GP-treated AP group had fewer macrophage infiltration, lower lung MPO activity (P<0.01), and lower expression of inflammatory factors, tumor necrosis factor α(TNF-α)and monocyte chemotactic protein 1 (MCP-1) (P<0.05), and oxidative stress factors, superoxide dis-mutase (SOD)-1, SOD-2 and NADPH oxidase 2 (NOX-2) (P<0.01).CONCLUSION:Grape polyphenol has remark-able protective effect on pancreatic tissues of mice with caerulein-induced acute pancreatitis, and the mechanisms may be related to down-regulation of inflammatory and oxidative stress factors.

THE COURSE OF MALARIA CONTROL AND PRESENT STATUS IN ZHEJIANG PROVINCE / 中国寄生虫学与寄生虫病杂志

Through forty years' sustained efforts in the prevention and treatment of malaria in Zhejiang Province, the malaria incidence dropped from 76. 65k in the Fifties to 0. 91 in the Eighties. Three malaria epidemics emerged in 1954 ,1962 and 1973, respectively, among them the epidemic in 1962 was the most serious one with 0. 88 million cases reported and an incidence of 330. The annual incidence of the overall counties/cities was below 1 after 1988. Only 172 malaria cases were found in 1992, the incidence being 0. 04. No indigenous malaria case was found in 38 counties in 1992, accounting to 43. 7% of the total malaria endemic counties. The number of imported malara cases was 3 829, amounting to 89. 2 % of the total number of cases. Through the spot-check of the Ministry of Public Health in 1993, it was confirmed that the criteria of basic elimination of malaria in the province was attained.