Hereditary glomerular disease is an important part of kidney diseases .In recent years , hereditary glomerular disea-ses had a high incidence and poor prognosis .Thus, the studies involving hereditary glomerular diseases such as Alport syndrome , he-reditary nephritis syndrome and thin basement membrane disease , etc.have significant implications .This review mainly focuses on the pathogenesis , clinical features , diagnosis and treatment of Alport syndrome and hereditary nephritis syndrome .

Objective The article was to analyze the features of gene mutation and clinical phenotype in Alport syndrome. Methods Next-generation sequencing was applied to capture the exons of COL4A3, COL4A4, COL4A5 genes in 30 cases of children with suspected or confirmed diagnosis of Alport syndrome and Sanger method was used to identify gene mutations of related family mem-bers.Provean database was applied in protein function prediction.We collected and analyzed clinical data of AS patients on the basis of gene mutation. Results All 30 children were diagnosed with AS by gene sequencing, among whom 4 boys were autosomal reces-sive inheritance, 16 boys and 10 girls were X-linked Alport syndrome.Next-generation sequencing detected 35 different gene mutations of COL4A3, COL4A4, COL4A5, including 19 missense mutations, 2 synonymous mutations, 4 splice-site mutations, 3 truncating mu-tations, 2 insertion mutations, 4 deletion mutations and 1 compound mutations.It was observed by Sanger sequencing that 20 mutations were inherited from the mother, 8 from the father, homozygous mutation in 1 propositus from the parents respectively, 8 novel mutations and 1 with unidentified source.All the 30 children had an onset of hematuria or proteinuria, 17 cases had a positive family history, 1 case had hearing loss, and no pathogenesis or renal insufficiency was found in the children.Renal biopsy was performed on 23 children, 13 minimal change disease ( MCD) and 10 mesangial proliferative glo-merulonephritis ( MsPNG) by light microscope.Extensive lamination and split of glomerular basement membrane dense layers were found in 9 children by electron microscope. Conclusion XLAS ac-counts for most AS patients and missense mutation is the main type in pathogenic mutations.Altogether, 31 mutations without disease notification were found.Most of children showed MCD in renal biopsy, with atypical electron microscope manifestations and rare extra renal manifestations.

Objective To analyze the complete genome sequence of a Shenzhen coxsackievirus A2 strain CVA2-SHZH13-01 and its evolution.Methods RT-PCR was used to amplify the complete genome of CVA2-SHZH13-01 strain.The PCR products were purified and sequenced to analyze their genetic character-istics.Results The complete genome of CVA2-SHZH13-01 strain was 7400 bp in length, encoding 2191 amino acids.CVA2-SHZH13-01 strain was highly similar with the novel recombinant CVA2-HK (431306) strain isolated from Hong Kong sharing the nucleotide homology of 98.3%, 98.8%, 99.0%, 99.2%, 98.8%and 98.9%in 5′UTR, P1 ( VP1 to VP4) , P2, P3, 3′UTR regions and complete genome, respec-tively.CVA2-SHZH13-01 strain was highly identical to the international standard strain CVA2-Fleetwood showing the homology of 81.6% in nucleotide sequences in P1 region, but closely associated with EV71-SHZH03 and EV71-GD2009 strains (82.8%-88.7%) in P2 and P3 regions.The phylogenetic analysis in-dicated that CVA2-SHZH13-01 strain belonged to the CVA2-HK (431306) variant.Data from analysis of amino acid in P1 region showed that there were three amino acid mutations in CVA2-SHZH13-01 strain including aa5L→F, aa666S→G and aa671T→I as compared with CVA2-HK (431306) strain.Conclusion CVA2-SHZH13-01 strain belonged to CVA2-HK (431306) variant.

Objective To observe the effect of different cryoprotective agents and temperature factors on the viability of Blastocystis hominis so as to explore the ideal method for preservation of B.hominis.Methods B.hominis agents were obtained from a patient's fecal specimen.Having washed by normal saline and divided into tubes,the samples were cryopreserved in-20 ℃ refrigerator or in-l96 ℃ liquid nitrogen with 10% DMSO,40% glycerol and 15% ethylene glycol respectively.The thawed B.hominis agents were then used for culture.By trypan blue staining and microscopy,the viability and proliferation of those resuscitative cells were investigated.Results B.hominis survived for 3 weeks at 18 ℃-20 ℃ while less than 1 week at 4 ℃-6 ℃.When stored in-20 ℃ refrigerator or liquid nitrogen with cryoprotective agents,they survived for more than 3 months.The cryopreservation with 40% glycerol at-196 ℃ for 6 months resulted in 41.7% viability of the revivified cells.Cleavage cells were easily observed after culturing for 72 hours.Conclusion Preserving B.hominis in liquid nitrogen with 40% glycerol is an optimal cryopreservation protocol.

The origin and the course of the thoracic duct and its opening into the vein were studied in 150 cadavers including 15 fetuses and 138 infants. They are classfied into 5 types.1. The normol type of the thoracic duct begins in the abdominal cavity as a single trunk, It ascends along the right side of the aorta and empties into the venous system on the left side at the root of the neck. This type of the duct which is described in the general text book, occurred in 84.67 per cent.2. The two-trunk type of the thoracic duct begins in the abdominal cavity as two trunks and ascends along the each side of the aorta. The two trunks join together at different levels in the thorax forming a single trunk which empties into the venous system on the left side at the root of the neck. This type of the duct occurred in 10.66 per cent.3. The bifurcated-type of the thoracic duct starts in the abdominal cavity as a single trunk and passing cephalad on the right side of the aorta and divides into two branches at the level of the 6th～4th thoracic vertebra, The right branch opens into the venous svstem on the right side and the left branch opens into the venous system on the left side. This type of the duct occurred in 3.33 per cent. The type which ascends along the left side of the aorta was found.4. The right thoracic duct begins in the abdominal cavity as a single trunk and runs its entire course along the left side of the aorta. The termination opens into the right jugular venous angle. This type of the duct occurred in 0.67 per cent.5. The left thoracic duct begins in the abdominal cavity as a single trunk and ascends along the left side of the aorta. It empties into the left jugular venous angle. This type of the duct occurred in 0.67 per cent.

Objective Saxagliptin regulates the level of blood glucose by selectively inhibiting high-performance dipeptidyl peptidase 4, but its action mechanism is not yet clear .This study was to investigate the effect of the novel hypoglycemic agent Saxaglip -tin on the expression of long non-coding RNA (LncRNA) metastasis-associated lung adenocarcinoma transcript 1 (MALAT1) and its target gene products transforming growth factor-β1 ( TGF-β1 ) in human umbilical vein endothelial cells ( HUVECs) stimulated by high glucose. Methods HUVECs were cultured in with D-glucose (D-GS) at the concentrations of 5.5, 10, 20, and 30 mmol/L and Saxagliptin at 0, 0.01, 0.1, 1, and 10μmol/L.The best concentrations of D-GS and Saxagliptin were determined as 30 mmol/L and 1 μmol/L, respectively.The HUVECs were divided into four groups:control (5.5 mmol/L D-GS), Saxagliptin (5.5 mmol/L D-GS+1 μmol/L Saxagliptin ) , high glucose ( 30 mmol/L D-GS ) , and high glucose +Saxagliptin (30 mmol/L D-GS +1μmol/L Saxaglip-tin), all cultured for 24 hours.Then the expressions of MALAT1 and TGF-β1 mRNA in the cells were detected by qRT-PCR, that of the TGF-β1 protein determined by Western blot , and the level of TGF-β1 in the supernatant measured by ELISA . Results The expressions of LncRNA-MALAT1 and TGF-β1 were significantly increased in the high glucose group as compared with the control ( 8.65 ±0.70 vs1.00 ±0.00 and 1.36 ±0.07 vs 1.00 ±0.00, P<0.01) but markedly inhibited in the high glucose +Saxagliptin group in compari-son with the high glucose group (2.17 ±0.24 vs 8.65 ±0.70 and 1.15 ±0.02 vs 1.36 ±0.07, P<0.05). Conclusion High glu-cose can induce the overexpression of LncRNA-MALAT1 and its target gene products TGF-β1 in HUVECs and cause damage to the cells, while Saxagliptin can significantly suppress this effect .

Objective To discuss clinical effects of combined use of duodenoscopy and laparoscopy in the treatment of acute billiary pancreatitis(ABP).Methods The clinical data of 94 ABP patients who underwent minimally invasive treatment from February 2001 to Feburary 2006 were retrospectively reviewed.Among 94 ABP patients,59 patients had gallbladder stones were given laparoscopic cholecystectomy(LC)alone;14 patients had common bile duct stones received endoscopic nasobiliary drainage(ENBD),combined endoscopic sphincterotomy(EST)and LC;21 patients had both gallbladder and common bile duct stones received combined EST and LC.Results Postoperatively,in the whole group,only one patient had recurrent pancreatitis,one patient had hemobilia,and both cases followed ERCP+EST;two cases had lung infection,and one case had infection of abdominal incision.All of the 5 cases with postoperative compllcations were successfully treated by conservative therapy.The effective rate for the whole group was 100%.Conclusions Combined use of duodenoscopy and laparoscopy is significantly effective for treatment of acute biliary pancreatitis and this minimally invasive treatment is the ideal therapy for acute biliary pancreatitis.

Objective To evaluate the clinical classification and timing of surgery in the treatment of gallstone acute pancreatitis(GAP). Method The clinical data of 109 patients with GAP admitted to the Department of General Surgery of our hospital were retrospectively analysed. Result and Conclusion Based on the analysis of the treatment methods and its outcome, GAP should be divided into four types according to ampullary obstruction and severity of acute pancreatitis. (1)Non-obstructive mild type GAP was treated mainly in conservative way.(2)Obstructive mild type GAP could be treated conservatively for 36 hours after onset. If the obstruction did not resolve, surgery should be done. (3)Obstructive severe type GAP was treated mainly in conservative way, and the timing of surgery depends on whether necrosis complicated with infection. (4)Obstructive severe type GAP: EST should be done first. If EST is not convenient to be done, an early surgery should be done after short period of supportive therapy. Special attention should be paid to, if suppurative cholecystitis or cholangitis presented, an emergency surgery should be done. Finally, for all the GAP treated by conservative treatment, an elective surgery should be performed to resolve the biliary disease.

Objective To evaluate the effect of percutaneous coronary intervention (PCI) on left ventricular function in patients with different types of myocardial infarction and to explore the correlation factors for the left ventricular function.Methods A total of 43 patients diagnosed as acute myocardial iffarction were enrolled in this study.The perfusion and delayed enhancement magnetic resonance imaging (DE-MRI) was applied to observe the following parameters before the PCI and at month 6 after the procedure:infarct mass,left ventricular ejection fraction (LVEF) and abnormal wall motion score.The subjects were divided into the following three groups by the transmural extent of myocardial infarction manifested in the DE-MRI:the transmural enhancement group,the nontransmural group and the mixed group.Laboratory test was done to detect the level of endothelin (ET),matrix metal enzyme 9 (MMP-9) and high sensitive C reactive protein (hsCRP) before PCI and at month 6 after the procedure.The t test was used to compare the differences among the groups and the multiple regression analysis was taken to explore the correlation factors for the left ventricular function.Results Compared with the parameters before PCI,the infarct mass after PCI significantly decreased in the nontransmural group and the mixed group [(4.0 ± 2.9) g/cm3 vs (9.8 ±5.6) g/cm3 and (6.0 ±3.5) g/cm3 vs (11.8 ±6.2) g/cm3,all P ＜0.05],while LVEF was significantly improved after PCI in both groups [(52.6 ± 15.4) ％ vs (41.9 ± 16.3) ％,(45.6 ± 15.4)％ vs (38.9 ± 16.3)％,all P ＜0.05].The infarct mass was an independent correlation factor for LVEF before PCI (RR =0.318,P ＜0.05) and LVEF after PCI(RR =0.293,P ＜0.05).LVEF before PCI was independently correlated with the level of hsCRP (RR =0.318,P ＜ 0.05).Conclusion The effect of PCI on the improvement of left ventricular function differs in patients with different extent of myocardial infarction,which is correlated with the amount of survival myocardium and the inflammatory factors.

Objective To investigate the dose-response of micronuclei (MN) frequency in the lymphocytes irradiated with or without combination of α-particles and γ-rays. Methods Human lymphoblast cells HMy2.CIR were irradiated with 0 - 1 Gy of α-particles,0 - 5 Gy of γ-rays,and 0.025 -0.5 Gy of α-particles followed by different doses of γ-rays,respectively.The micronuclei (MN) in the irradiated cells were measured with the cytokinesis block technique,and the dose-responses of MN were established under different irradiation conditions.Results For γ-ray irradiation,the dose-response of MN was well-fit by the linear-quadratic model with an equation Y =c + αD + βD2.For α-particle irradiation,the MN induction increased linearly with the dose less than 0.250 Gy. But when the dose of α-particles increased continually,the dose-response curve bended and could be well fit with the BaD model Y =c + αD + σ[ 1 - exp( - δD) ] exp( - βD) where radiation-induced bystander effect (RIBE) was indicated.For the combined exposure,the dose-response of MN was similar to that of γ-irradiation when the dose of α-particles was lower than 0.1 Gy,but it was similar to that of α-irradiation when the dose of α-particles was higher.When the dose of α-particles was 0.2 and 0.5 Gy,MN induced by the mixed radiation were significantly higher than the sum of corresponding irradiation alone ( t =5.22 - 11.86,P ＜ 0.05 ).Conclusions The radiation damage of α-particles differs from that of γ-rays,where RIBE may be involved.The combination irradiation of α-particles and γ-rays has a synergistic effect on radiation damage of lymphoblast cells.