Cyanidin-3-O-glucoside plays a protective role against renal ischemia/ reperfusion injury via the JAK/STAT pathway

Purpose: To investigate the role of cyanidin-3-O-glucoside (C3G) in renal ischemia/reperfusion (I/R) injury and the potential mechanisms. Methods: Mouse models were established by clamping the left renal vessels, and in vitro cellular models were established by hypoxic reoxygenation. Results: Renal dysfunction and tissue structural damage were significantly higher in the I/R group. After treatment with different concentrations of C3G, the levels of renal dysfunction and tissue structural damage decreased at different levels. And its protective effect was most pronounced at 200 mg/kg. The use of C3G reduced apoptosis as well as the expression of endoplasmic reticulum stress (ERS)-related proteins. Hypoxia/reoxygenation (H/R)-induced apoptosis and ERS are dependent on oxidative stress in vitro. In addition, both AG490 and C3G inhibited the activation of JAK/STAT pathway and attenuated oxidative stress, ischemia-induced apoptosis and ERS. Conclusions: The results demonstrated that C3G blocked renal apoptosis and ERS protein expression by preventing reactive oxygen species (ROS) production after I/R via the JAK/STAT pathway, suggesting that C3G may be a potential therapeutic agent for renal I/R injury.

Screening for, andVariants in a Cohort of Chinese Patients with Charcot-Marie-Tooth / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>SH3TC2, PMP2, and BSCL2 genes are related to autosomal recessive (AR) Charcot-Marie-Tooth (CMT) disease type 1, autosomal dominant (AD)-CMT1, and AD-CMT2, respectively. Pathogenic variants in these three genes were not well documented in Chinese CMT patients. Therefore, this study aims to detect SH3TC2, PMP2, and BSCL2 pathogenic variants in a cohort of 315 unrelated Chinese CMT families.</p><p><b>METHODS</b>A total of 315 probands from 315 unrelated Chinese CMT families were recruited from the Department of Neurology of Third Xiangya Hospital and Xiangya Hospital. We screened for SH3TC2 pathogenic variants in 84 AR or sporadic CMT probands, PMP2 pathogenic variants in 39 AD or sporadic CMT1 probands, and BSCL2 pathogenic variants in 50 AD or sporadic CMT2 probands, using polymerase chain reaction and Sanger sequencing. All these patients were out of 315 unrelated Chinese CMT families and genetically undiagnosed after exclusion of pathogenic variants of PMP22, MFN2, MPZ, GJB1, GDAP1, HSPB1, HSPB8, EGR2, NEFL, and RAB7. Candidate variants were analyzed based on the standards and guidelines of American College of Medical Genetics and Genomics (ACMG). Clinical features were reevaluated.</p><p><b>RESULTS</b>We identified three novel heterozygous variants such as p.L95V (c.283C>G), p.L1048P (c.3143T>C), and p.V1105M (c.3313G>A) of SH3TC2 gene and no pathogenic variants of PMP2 and BSCL2 genes. Although evaluation in silico and screening in the healthy control revealed that the three SH3TC2 variants were likely pathogenic, no second allele variants were discovered. According to the standards and guidelines of ACMG, the heterozygous SH3TC2 variants such as p.L95V, p.L1048P, and p.V1105M were considered to be of uncertain significance.</p><p><b>CONCLUSIONS</b>SH3TC2, PMP2, and BSCL2 pathogenic variants might be rare in Chinese CMT patients. Further studies to confirm our findings are needed.</p>

Comparison of open versus laparoscopic surgeries for adrenal tumor: a meta-analysis / 南方医科大学学报

<p><b>OBJECTIVE</b>To systematically review the effectiveness and safety of open and laparoscopic surgeries for treatment of adrenal tumors.</p><p><b>METHODS</b>The online databases including CNKI, PUBMED, SinoMed, EBSCO, Springerlink, WanFang Data, and VIP were searched for clinical trials published from 1999 to 2016. A meta-analysis was performed using RevMan 5.2 software.</p><p><b>RESULTS</b>A total of 2340 patients in 25 trials were included. The results of meta-analysis showed that laparoscopic surgery was better than open surgery in terms of intestinal function recovery time (OR=-0.96, 95%CI [-1.22, -0.70] P<0.000 01), hospitalization time (OR=-3.48, 95%CI [-4.13, -2.78], P<0.000 01), complications (OR=0.22, 95%CI [0.14, 0.35], P<0.0001), and volume of blood loss (OR=-104.77, 95%CI [-138.95, -70.60], P<0.000 01). There was no significant difference in the surgery cost between open and laparoscopic surgeries.</p><p><b>CONCLUSION</b>Laparoscopic surgery is superior to open surgery for treatment of adrenal tumors for shorter intestinal function recovery time, surgery duration, and hospitalization time and less complications and blood loss.</p>

Microwave ablation of the canine prostate: an experimental study / 中华男科学杂志

<p><b>OBJECTIVE</b>To investigate the effect of transrectal ultrasound-guided microwave ablation of canine prostate tissue.</p><p><b>METHODS</b>Guided by transrectal ultrasound, we conducted microwave ablation on each side of the prostate in 12 male dogs, 6 at 40 W/ 120 s (group A) and the other 6 at 40 W/160 s (group B), and observed the changes in the thermal lesions using grayscale ultrasound. After thermal ablation, we measured the volume of the thermal lesions by contrast-enhanced ultrasound (CEUS). Then we harvested the whole prostate from the animals and determined the lesion volumes in the fresh tissue specimens.</p><p><b>RESULTS</b>Grayscale ultrasound revealed an echogenic area at the initiation of the microwave ablation procedure, which was enlarged with the increase of ablation time. At the end of the procedure, the lesions appeared as an irregular heterogeneous echogenic area. CEUS showed oval non-perfused areas, which appeared as well-defined non-echoic areas in sharp contrast with the surrounding normal prostate parenchyma with bolus injection of contrast material (Sonovue, 2.4 ml), and that the thermal lesion volumes of groups A and B were (1.18 +/- 0.23) cm3 and (1.52 +/- 0.23) cm3, respectively. The thermal lesions of the gross specimen exhibited an elliptical shape, pale color and clear margin, and their volumes were (1.13 +/- 0.20) cm3 and (1.48 +/- 0.20) cm3, respectively, in groups A and B.</p><p><b>CONCLUSION</b>Different combinations of time and power can produce coagulative necrotic lesions of different volumes in the local prostatic tissue. CEUS can accurately manifest the lesion area and thus avoid excessive or inadequate ablation treatment.</p>

Penetration of erythromycin through Staphylococcus epidermidis biofilm / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>The catheter related infection caused by Staphylococcus epidermidis biofilm is increasing and difficult to treat by antimicrobial chemotherapy. The properties of biofilms that give rise to antibiotic resistance are only partially understood. This study aimed to elucidate the penetration of erythromycin through Staphylococcus epidermidis biofilm.</p><p><b>METHODS</b>The penetration ratio of erythromycin through Staphylococcus epidermidis biofilms of 1457, 1457-msrA, and wild isolate S68 was detected by biofilm penetration model at different time points according to the standard regression curve. The RNA/DNA ratio and the cell density within the biofilms were observed by confocal laser microscope and transmission electromicroscope, respectively.</p><p><b>RESULTS</b>The penetration ratios of erythromycin through the biofilms of 1457, 1457-msrA, and S68 after cultivation for 36 hours were 0.93, 0.55 and 0.4, respectively. The erythromycin penetration ratio through 1457 biofilm (0.58 after 8 hours) was higher than that through the other two (0.499 and 0.31 after 24 hours). Lower growth rate of the cells in biofilm was shown, with reduction of RNA/DNA proportion observed by confocal laser microscope through acridine orange stain. Compared with the control group observed by transmission electrmicroscope, the cell density of biofilm air face was lower than that of agar face, with more cell debris.</p><p><b>CONCLUSIONS</b>Erythromycin could penetrate to the Staphylococcus epidermidis biofilm, but could not kill the cells thoroughly. The lower growth rate of the cells within biofilm could help decreasing the erythromycin susceptibility.</p>

Efficacy and safety of micafungin for invasive candida infections: a meta-analysis of randomized controlled trials / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Invasive fungal infections such as candidiasis and mold infections cause significant morbidity and mortality in seriously ill patients. Micafungin is an echinocandin antifungal agent with potent activity against most species of Candida and Aspergillus. We did this meta-analysis to clarify whether micafungin offers superior efficacy and safety compared with other antifungal agent for treating infections associated with invasive candidiasis.</p><p><b>METHODS</b>We did a meta-analysis of randomized controlled trials to examine whether micafungin has superior efficacy and safety compared with other antifungal agents recommended by the treatment guidelines for fungal infection. Seven trials involving 2913 patients were included in this analysis. Odds ratios (OR) and 95% confidence intervals (CI) were calculated.</p><p><b>RESULTS</b>Micafungin was associated with significantly better treatment success compared with the comparator antifungal agents (modified intention to treat, 2851 patients; random-effects model, OR 1.20, 95%CI 1.00 - 1.45, P = 0.0487). In addition, micafungin was more effective than the comparators for antifungal prophylaxis of neutropenic patients undergoing hematopoietic stem cell transplantation (OR 1.47, 95%CI 1.08 - 2.00, P = 0.01). Although there was no significant difference between the compared regimens in terms of the incidence of adverse drug effects (OR 0.94, 95%CI 0.77 - 1.11), fewer patients treated with micafungin withdrew from the studies because of adverse events (OR 0.64, 95%CI 0.44 - 0.94).</p><p><b>CONCLUSIONS</b>Micafungin has a good safety and tolerability profile, with an efficacy at least comparable to the other antifungal agents. Micafungin offers advantages over other agents for antifungal prophylaxis. Micafungin offers an appropriate alternative for antifungal prophylaxis rather than the treatment of invasive candida infections.</p>

Clinical study of distribution and drug resistance of pathogens in patients with severe acute pancreatitis / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Previous researches about necrotic pancreatic tissue infections are numerous, but the study on systemic infection related to the severe acute pancreatitis (SAP) treatment period is limited. This study aimed to investigate the distribution and drug resistance of pathogenic bacteria in patients who had hepatobiliary surgery for SAP during the past three years.</p><p><b>METHODS</b>A retrospective study was conducted on the distribution, category and drug resistance of pathogenic bacteria in patients who had hepatobiliary surgery for SAP from 2008 to 2011.</p><p><b>RESULTS</b>A total of 594 pathogenic bacteria samples were isolated. Among them 418 isolates (70.4%) were Gram bacteria negative, 142 isolates (23.9%) were Gram bacteria positive, and 34 isolates (5.7%) were found fungi. The most common Gram negative bacteria were Escherichia coli (19.8%), and the dominant Gram positive pathogenic bacteria were Enterococcus faecium. The distribution of SAP-related infectious pathogens was mainly in peritoneal drainage fluid, sputum, bile, and wound secretions. Almost all the Gram negative pathogenic bacteria were sensitive to carbapenum. Extended-spectrum β-lactamases (ESBLs) producing strains were more resistant to penicillins and cephalosprins than the ESBLs non-producing strains. Staphylococcus was sensitive to vancomycin and linezolid. The drug resistance of meticillin-resistant staphylococcus (MRS) to commonly used antibiotics was higher than meticillin-sensitive streptococcus (MSS). Enterococcus sp. exhibited lower drug-resistance rates to vancomycin and linezolid.</p><p><b>CONCLUSIONS</b>Gram negative bacteria were the dominant SAP-related infection after hepatobiliary surgery. A high number of fungal infections were reported. Drug resistant rates were high. Rational use of antibiotics according to the site of infection, bacterial species and drug sensitivity, correctly executing the course of treatment and enhancing hand washing will contribute to therapy and prevention of SAP-related infection and decrease its mortality.</p>

Linkage analysis of susceptibility loci in 2 target chromosomes in pedigrees with paranoid schizophrenia and undifferentiated schizophrenia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the relationship of susceptibility loci in chromosomes 1q21-25 and 6p21-25 and schizophrenia subtypes in Chinese population.</p><p><b>METHODS</b>A genomic scan and parametric and non-parametric analyses were performed on 242 individuals from 36 schizophrenia pedigrees, including 19 paranoid schizophrenia and 17 undifferentiated schizophrenia pedigrees, from Henan province of China using 5 microsatellite markers in the chromosome region 1q21-25 and 8 microsatellite markers in the chromosome region 6p21-25, which were the candidates of previous studies. All affected subjects were diagnosed and typed according to the criteria of the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revised (DSM-IV-TR; American Psychiatric Association, 2000). All subjects signed informed consent.</p><p><b>RESULTS</b>In chromosome 1, parametric analysis under the dominant inheritance mode of all 36 pedigrees showed that the maximum multi-point heterogeneity Log of odds score method (HLOD) score was 1.33 (α = 0.38). The non-parametric analysis and the single point and multi-point nonparametric linkage (NPL) scores suggested linkage at D1S484, D1S2878, and D1S196. In the 19 paranoid schizophrenias pedigrees, linkage was not observed for any of the 5 markers. In the 17 undifferentiated schizophrenia pedigrees, the multi-point NPL score was 1.60 (P= 0.0367) at D1S484. The single point NPL score was 1.95(P= 0.0145) and the multi-point NPL score was 2.39 (P= 0.0041) at D1S2878. Additionally, the multi-point NPL score was 1.74 (P= 0.0255) at D1S196. These same three loci showed suggestive linkage during the integrative analysis of all 36 pedigrees. In chromosome 6, parametric linkage analysis under the dominant and recessive inheritance and the non-parametric linkage analysis of all 36 pedigrees and the 17 undifferentiated schizophrenia pedigrees, linkage was not observed for any of the 8 markers. In the 19 paranoid schizophrenias pedigrees, parametric analysis showed that under recessive inheritance mode the maximum single-point HLOD score was 1.26 (α = 0.40) and the multi-point HLOD was 1.12 (α = 0.38) at D6S289 in the chromosome 6p23. In nonparametric analysis, the single-point NPL score was 1.52 (P= 0.0402) and the multi-point NPL score was 1.92 (P= 0.0206) at D6S289.</p><p><b>CONCLUSION</b>Susceptibility genes correlated with undifferentiated schizophrenia pedigrees from D1S484, D1S2878, D1S196 loci, and those correlated with paranoid schizophrenia pedigrees from D6S289 locus are likely present in chromosome regions 1q23.3 and 1q24.2, and chromosome region 6p23, respectively.</p>

Placement of dual double-J stents following high-pressure balloon angioplasty for treatment of ureter-ileum bladder anastomosis stricture / 南方医科大学学报

<p><b>OBJECTIVE</b>To evaluate the benefit of placement of dual double-J stents following high-pressure balloon angioplasty for treatment of ureter-ileum anastomosis stricture after total bladder resection.</p><p><b>METHODS</b>Seventeen patients (11 males and 6 females, mean age 56.65±6.28 years, 23 sides) undergoing total bladder resection were included in this study. Unilateral and bilateral ureteral stricture occurred postoperatively in 11 and 6 patients, respectively; 13 patients had ureter-ileum bladder anastomosis stricture after ileal bladder substitution, and 4 patients had ureter-ileum stricture after orthotopic construction of ileal neobladder. The control group consisted of 21 patients undergoing open surgery.</p><p><b>RESULTS</b>In the double-J stenting group, the effective rate was 82.6% (19/23), similar to that of 85.7% (18/21) in the control group (P>0.05). Compared with the control group, the stenting group showed a significantly reduced mean time of operation (87.42±10.35 min vs 34.12±7.52 min, P<0.05), intraoperative blood loss (203.16±32.67 ml vs 21.54±6.15 ml, P<0.05), and mean postoperative hospital stay (10.12±1.19 vs 3.24±0.35 days, P<0.05).</p><p><b>CONCLUSION</b>As a safe and minimally invasive approach to the management of ureter-ileum bladder anastomosis stricture, placement of dual double-J stents following high-pressure balloon angioplasty produces a effect comparable with that of open surgery.</p>

Treatment of benign ureteral stricture by double J stents using high-pressure balloon angioplasty / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Balloon dilatation angioplasty is a minimally invasive surgery for treating benign ureteral stricture. The aim of this study was to investigate the effect of placing double J (D-J) stents using high-pressure balloon angioplasty in treating benign ureteral stricture.</p><p><b>METHODS</b>A total of 42 patients (48 cases) with benign ureteral stricture (42 had benign ureteral stricture) were investigated by inserting dual D-J stents using high-pressure balloon angioplasty. The control group contained 50 patients (57 cases) employing the conventional balloon angioplasty with a single D-J stent inserted for comparison.</p><p><b>RESULTS</b>The overall effective rate of the treated and control groups was 87.8% (36/41) and 62.7% (32/51), respectively (P < 0.05).</p><p><b>CONCLUSION</b>This new approach produces a better curative effect than the conventional balloon angioplasty with a single D-J stent insertion in treating benign ureteral stricture.</p>

Ultrasound-guided transrectal microwave ablation of the prostate in dogs / 中华男科学杂志

<p><b>OBJECTIVE</b>To investigate the feasibility and safety of ultrasound-guided transrectal microwave ablation in reducing the prostate volume.</p><p><b>METHODS</b>Ultrasound-guided transrectal microwave ablation of both sides of the prostate was conducted on experimental dogs with the output volume of 30W for 120 seconds. The dogs were sacrificed on the very day of the ablation, and the prostate and its surrounding tissues were excised for observation of the thermal lesions and pathological examination.</p><p><b>RESULTS</b>A total of 12 thermal lesions were achieved on the two sides of the prostate. The ultrasonogram manifested dense echo and increasing extent in the ablated area, and then an irregular heterogeneous echogenic area and clearly differentiated margin. Pathological examination of the gross specimen showed a little stagnant blood under the rectal mucous, the urethra and bladder not injured, and the thermal lesions elliptical, clearly margined and with the mean size of (0.94 +/- 0.30) cm3.</p><p><b>CONCLUSION</b>Ultrasound-guided transrectal microwave ablation of the prostate can effectively cause coagulative necrosis of the local tissue without inflicting thermal injury upon the surrounding tissues. Conventional grayscale ultrasound can give a real-time'display of the extent of thermal lesion and the whole process of the ablation.</p>

Analysis on the functional module of military medical service operation system oriented towards the disposition of military medical service force / 第二军医大学学报

An effective, practical and advanced functional module of military medical service operation system was developed by combining military, logistics, health service theory and technologies of system engineering, computer simulation, digitalized map and multi-media. The functional module of the system could be used for regional disposition of military medical service force and for rapid exercise of military medical service commands. The functions of the system included terrain analysis, information retrieval, calculation and forecasting, document drafting, picture management and information transmission. It can be used not only for daily training of military medical command, but also for military medical commanding at emergency and non-battle military actions, enhancing the efficiency in accomplishing various military medical service disposition.

A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Hereditary spastic paraplegia (HSP) is a group of inherited neurodegenerative disorders with the shared characteristics of slowly progressive spasticity and weakness of the lower limbs. Thirteen loci for autosomal dominant HSP have been mapped.</p><p><b>METHODS</b>A Chinese family with HSP was found in the Shandong province and Inner Mongolia Autonomous Region of China and genomic DNA of all 19 family members was isolated. After exclusion of known autosomal dominant loci, a genome wide scan and linkage analysis were performed.</p><p><b>RESULTS</b>The known autosomal dominant loci of SPG3A, SPG4, SPG6, SPG8, SPG9, SPG10, SPG12, SPG13, SPG17, SPG19, SPG29, SPG31 and SPG33 were excluded by linkage analysis. The results of a genome wide scan demonstrated candidate linkage to a locus on chromosome 11p14.1-p11.2, over an 18.88 cM interval between markers D11S1324 and D11S1933. A maximal, two point LOD score of 2.36 for marker D11S935 at a recombination fraction (theta) of 0 and a multipoint LOD score of 2.36 for markers D11S1776, D11S1751, D11S1392, D11S4203, D11S935, D11S4083, and D11S4148 at theta=0, suggest linkage to this locus.</p><p><b>CONCLUSION</b>The HSP neuropathy in this family may represent a novel genetic entity, which will facilitate discovery of this causative gene.</p>

Mutation screening of MLH1 and MSH2 genes in two Chinese families with hereditary nonpolyposis colorectal cancer / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify the MLH1 and MSH2 gene mutation in two hereditary nonpolyposis colorectal cancer (HNPCC) families.</p><p><b>METHODS</b>Polymerase chain reaction and DNA sequencing were used to screen for MLH1 and MSH2 gene mutation, and PCR-restriction fragment length polymorphism and DNA sequencing were performed to confirm the mutation.</p><p><b>RESULTS</b>By DNA sequencing, a novel mutation of c.243_244insA located at the exon 3 of MLH1 gene was detected in family A, while c.1215_1218dupCCGA mutation located at the exon 7 of MSH2 gene was detected in family B. These two mutations can cause the formation of premature proteins.</p><p><b>CONCLUSION</b>The novel mutations c.243_244insA in MLH1 gene and c.1215_1218dupCCGA in MSH2 gene were the disease-causing mutations in the two HNPCC families.</p>

Construction of eukaryotic expression vector for VEGF165 gene and its expression in rat bladder smooth muscle cells / 南方医科大学学报

<p><b>OBJECTIVE</b>To construct an eukaryotic expression vector for vascular endothelial growth factor (VEGF) 165 gene and obtain VEGF expression in rat bladder smooth muscle cells.</p><p><b>METHODS</b>VEGF165 cDNA was cloned into the eukaryotic expression vector pcDNA3.1(-), and the resultant recombinant vector pcDNA3.1(-)/VEGF165 was transfected into the rat bladder smooth muscle cells by electroporation. VEGF expression in the cells was determined by RT-PCR and immunofluoresence assay, and the biological activity of VEGF in the supernant of the transinfected cell culture was tested by MTT assay.</p><p><b>RESULTS AND CONCLUSION</b>VEGF expression was obtained in the transinfected cells, and the supernant of the transinfected cell cultures stimulated the proliferation of the endothelial cells.</p>

Two novel mutations of the LDL receptor gene associated with familial hypercholesterolemia in a Chinese family / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Familial hypercholesterolemia (FH) is a type of dominant autosomal disease that causes high levels of plasma low-density lipoprotein cholesterol (LDL-C). In the past years, molecular data related to FH were limited in China. Now, to gain more information about FH, we analyzed one proband with a severe FH phenotype as well as his relatives.</p><p><b>METHODS</b>After the entire coding sequence and the intron-exon junctions of the low-density lipoprotein receptor (LDLR) gene were amplified using PCR, we sequenced the LDLR gene of a Chinese FH family. RT-PCR was used to detect changes in the mRNA.</p><p><b>RESULTS</b>Two novel mutations were identified in the LDLR gene of this family. One, W165X, was a G > A substitution at the third nucleotide of codon 165. The other, IVS5-1G > A, was also a G > A substitution at the acceptor splice site of intron 5. The most striking discovery is that the proband was heterozygous for W165X but homozygous for IVS5-1G > A. The cDNA sequencing showed that the IVS5-1G > A mutation caused the insertion of 10 nucleotides, namely GCTCTCACAA, between exon 5 and exon 6.</p><p><b>CONCLUSIONS</b>The two nucleotide variations are thought to be the FH-causing mutations because the co-segregation of the mutant allele with the phenotype of FH has been shown in this Chinese family. These data show an increase in the mutational spectrum of FH in China and verify a scarce mutational form in the LDLR gene.</p>

Mapping of pathogenic genes in a pedigree with autosomal dominant ichthyosis vulgaris / 中国医学科学院学报

<p><b>OBJECTIVE</b>To elucidate the pathogenic genes in a pedigree with autosomal dominant ichthyosis vulgaris (IV).</p><p><b>METHODS</b>Linkage analysis was performed by using STR markers in chromosome 1, and mutation detection was used to screen for FLG gene mutation.</p><p><b>RESULTS</b>A maximum two-point Lod score of 3.46 (theta=0) was obtained at D1S2696. Haplotype analysis placed the critical region in a 15-CM interval defined by D1S2726 and D1S305, but no mutation of FLG was found in our IV patients.</p><p><b>CONCLUSION</b>The pathologic gene of the IV family locates near D1S2696, and the FLG gene may not ruled out from the pathologic genes.</p>

Denaturant gradient gel electrophoresis in the genetic diagnosis of hereditary multiple exostoses / 中南大学学报(医学版)

OBJECTIVE@#To detect the mutations of EXT2 gene in hereditary multiple exostoses (HME) families and to investigate the sensitivity of denaturant gradient gel electrophoresis (DGGE) in screening the mutations in EXT2 gene.@*METHODS@#Five HME families and 3 sporadic patients were screened for the mutation detection in all exons of EXT2 gene covering the coding sequence and the flanking intronic sequence by DGGE, and DNA sequencing was performed for products with abnormal conformation.@*RESULTS@#Among these HME patients, we found 2 disease-causing mutations: A313T (nonsense mutation) and 319 insGT (frameshift mutation).@*CONCLUSION@#Two mutations of EXT2 gene are identified in the sample. DGGE can be an ideal choice for gene diagnoses of HME.

Novel mutation of Y271H in EXT1 gene causes multiple exostoses / 中南大学学报(医学版)

OBJECTIVE@#To explore the disease associated gene mutation of multiple exostoses by family analysis.@*METHODS@#Polymerase chain reaction and DNA sequencing were used to detect the mutation hot spot regions of EXT1 and EXT2 gene, while restriction fragment length polymorphism was performed to screen the mutation.@*RESULTS@#We found a novel heterozygous mutation c.811T ->C in EXT1 gene of patients, which resulted in the substitution of histidine for tyrosine at codon 271 in this hereditary multiple exostoses family. The mutation was not found in the unaffected family members, nor in the 100 unrelated normal individual, which was unreported before.@*CONCLUSION@#The novel mutation Y271H is the disease-causing mutation in the hereditary multiple exostoses family.

Bladder Regeneration by Small Intestinal Submucosa with Release of Exogenous Growth Factors / 中国康复理论与实践

@#ObjectiveTo explore the release of exogenous growth factors from small intestinal submucosa (SIS) in bladder regeneration. MethodsThe release of vascular endothelial growth factor (VEGF) and basic fibroblast growth factor (bFGF) from SIS in vitro were evaluated by ELISA and MTT method. The defected bladder walls of rats in experimental group were repaired with porcine small intestinal submuscosa. Partial bladder mucosa and smooth muscle of the rats in control groups were destroyed. At regular intervals, the VEGF and bFGF expression were observed by histological and immunohistochemical methods. ResultsThe concentration of bFGF and VEGF released in vitro from SIS in PBS solution were (121.8±2.683) ng/L and (93.8±3.033) ng/L respectively, and showed proliferation of vascular endothelial cell. In the SIS framework, the capillary and smooth muscle were observed followed histological evaluation. The weak expression of VEGF and bFGF in both experimental and control groups were found in the first week. Since the second week the VEGF and bFGF expression in experimental group began to increase with a peak in the 6th week, and began to decrease after 8 weeks. In the control group, the weak VEGF and bFGF expression were shown during the observation. ConclusionSIS functions as a carrier for exogenous growth factors release in rat bladder regeneration.