o,p'-DDD治疗异位ACTH综合征:Cochin医院23例报道

异位ACTH综合征(EAS)约占库欣综合征的10%,其治疗仍相当困难.1928年Brown首次描述了该综合征的临床表现,多年后Meador和Liddle先后阐述了其生化特点.     

o,p'-DDD治疗异位ACTH综合征:Cochin医院23例报道

异位ACTH综合征(EAS)约占库欣综合征的10%,其治疗仍相当困难.1928年Brown首次描述了该综合征的临床表现,多年后Meador和Liddle先后阐述了其生化特点.     

血清明胶酶与绝经后女性代谢综合征的关系

目的 通过测定绝经后女性代谢综合征（MS）患者血清明胶酶[基质金属蛋白酶-2（MMP-2）和基质金属蛋白酶-9（MMP-9）]水平的变化,探讨明胶酶与绝经后女性代谢综合征的关系.方法 选择2010年4月至2011年4月我院体检科、心内科及内分泌科患者,分为绝经后健康女性对照组27例及绝经后代谢综合征女性患者28例,采用酶联免疫的方法测定血清中MMP-2及MMP-9水平,用胶乳增强免疫比浊法测定血清高敏C反应蛋白（hs-CRP）水平,对两组结果进行比较分析.结果 绝经后女性代谢综合征患者血清MMP-9水平显著高于绝经后女性非代谢综合征者水平,两组比较差异有统计学意义（P＜0.01）;而两组MMP-2水平比较差异无统计学意义（P＞0.05）.结论 绝经后女性代谢综合征患者血清中可见明显高水平的MMP-9,其可能参与了动脉血管粥样硬化的早期病理生理进程.     

猫抓病研究的回顾及展望

猫抓病(Cat Scratch disease.CSD)是一种与接触猫等动物或被其抓伤后发生皮肤病损,继而出现局部淋巴结疼痛、肿大.可在数周至数月内自然消退的急性传染病。人们对CSD的认识前后经历了一段漫长的历程。早在1889年Parinaud首先将CSD描述为眼淋巴腺综合征(Pcrinaud综合征)。1931年法国医生Debre发现Parinaud综合征的发生与猫相关.但其研究     

假性Budd-Chiari综合征2例

假性Budd-Chiari综合征多发生于酒精性肝病的患者,其彩超和CT检查类似于Budd-Chiari综合征,而选择性下腔静脉造影无异常发现.本文报告2例患者均因腹胀、乏力入院.入院后进行查体、实验室检查、超声、肝脏增强CT和下腔静脉造影检查,最后确诊为假性Budd-Chiaxi综合征,此病罕见.     

二尖瓣脱垂综合征合并起搏综合征一例报告

<正> 起搏综合征是心室起搏后由于血流动力学及电生理方面的异常而引起的神经症状、低心排出量及充血性心力衰竭表现.二尖瓣及三尖瓣返流是其机制之一.由于返流量小,作用甚微.但若合并二尖瓣脱垂综合征,则可成为起搏综合征的促发因素.现将我院遇到一例报告如下.     

肠屏障和肝屏障损伤及保护在减体积肝移植术后小肝综合征中的研究进展

肠屏障可以抵抗病原体的侵袭,阻止有害物质进入血液循环,从而保持机体内环境的稳定.肝屏障对于维护肝脏正常功能有重要意义,其可阻止内毒素、病毒等进入肝脏损伤肝细胞.肠屏障和肝屏障是减体积肝移植术后最易受到损伤的2个结构,其损伤的原因与术后"小肝综合征"的发生有关."小肝综合征"的发病机制与肝移植术后门静脉高压、门静脉过度灌注等有关.如何有效地控制"小肝综合征"的发生,保护术后的肠屏障和肝屏障,是维持肠道和肝脏功能的关键点.本文主要阐述肠屏障和肝屏障的概念,分析其功能和结构破坏的原因以及相应的保护措施.     

W-P-W综合征射频消融术后心脏记忆115例临床观察

心脏记忆是以 T波可逆性改变为特征的心电图现象。常见于室性心动过速发作后、间歇性心室起搏后、间歇性束支传导阻滞及间歇性预激综合征中。目前对预激综合征 (W- P- W)射频消融后心脏记忆的研究较少 ,本文对 1 1 5例 W- P- W综合征行射频消融术后病人的心脏记记进行分析并初步探讨其临床意义。1　资料与方法1 .1　资料 :1 .1 .1　一般资料 :1 996年～ 2 0 0 0年 1 1 5例 W- P-W综合征病人均成功进行了射频消融术。男性 6 0例 ,女性 5 5例 ,年龄 9～ 75岁 (平均 3 9.9± 1 5 .3 )。1 .1 .2　旁道位置 :左侧游离壁 5 5例 (47.8% ) ,右侧…     

以垂体激素缺乏、垂体前叶和胼胝体发育不良为特征的甲状旁腺功能减退-生长迟缓-畸形综合征与TBCE基因突变有关

甲状旁腺功能减退.发育迟缓-畸形(HRD)综合征,也称为Sanjad-sakati或Richardson-Kirk综合征,是一种常染色体隐性遗传病.此类疾病仅见于儿童,其父母来自中东地区且为近亲婚配.HRD综合征的临床表现包括甲状旁腺功能减退(甲旁减)、畸形、发育迟缓、宫内及出生后生长障碍.其中,甲旁减和生长障碍在所有患儿中均存在.     

腹腔镜胆囊切除术与胆心综合征的治疗

目的 观察胆心综合征手术前临床及心电图变化.方法 1000例胆道疾病患者经腹腔镜胆囊切除术后,对比观察胆心综合征患者术前术后临床症状与心电图变化.结果 胆道疾病患者合并胆心综合征的发病率为20%,术后治愈率为99%.结论 胆心综合征患者经胆囊切除术后可获得治愈.     

Characterization of MTHFR,GSTM1, GSTT1, GSTP1, and CYP1A1 genotypes in childhood acute leukemia

The role of methylenetetrahydrofolate reductase (MTHFR C677T), glutathione S-transferases (GSTM1 and GSTT1 null, GSTP1 Ile105Val), and cytochromes p450 (CYP1A1*2A) genotypes in the etiology of childhood leukemia was simultaneously investigated. 144 Turkish children with acute lymphoblastic leukemia (ALL) and 33 with acute nonlymphoblastic leukemia (ANLL) were studied and compared with 185 healthy pediatric controls. The frequency of MTHFR genotype was insignificantly higher in ALL (7.7%) and ANLL (6.3%) than in controls (4.4%). Equal distribution of the GSTM1 null genotype was detected between ALL patients and controls (55%), while its incidence was slightly higher in ANLL patients (61.3%). Although GSTT1 null genotype was insignificantly lower in ALL patients (20.9%) than controls (22.7%), it was significantly underrepresented in ANLL patients (6.5%) (P = 0.05, OR 0.24, 95% CI 0.05-1.03). The homozygous frequency of GSTP1 genotype did not differ significantly between groups of ALL (3.7%), ANLL patients (9.1%) and controls (4.9%). Homozygous CYP1A1*2A genotype was underrepresented in ALL patients (1%) as compared to control (4.8%) but the differences did not reach to statistical significance (OR 0.21; 95% CI 0.03-1.72). Homozygosity for this genotype was not detected in ANLL patients. No particular association was noted between different combinations of combined genotypes and risk of development of childhood ALL and ANLL. These results suggested that there are no significant associations between the studied genotypes and the risk of developing either form of acute leukemia except GSTT1 null and homozygosity for CYP1A1 genotypes that may play protective roles in the development of ANLL in Turkish children.     

PICCO指导重症急性胰腺炎早期液体复苏的效果评价

目的 探讨脉搏连续心排血量（PICCO）指导早期液体复苏对重症急性胰腺炎（SAP）的临床意义。方法 选择我院消化科自2013年1月～2015年1月收治并应用PICCO指导早期液体复苏的37例SAP患 者作为PICCO组，同期选择应用中心静脉压（CVP）指导液体复苏的39例SAP患者作为对照组，比较两组48h内液体出入量、血管活性药物使用时间，以及机械通气时间、ICU住院时间和28天病死率。并应用受试者工作特征性（ROC）曲线分析28天病死率的危险因素。结果 共有76例患者入选，其中男41例，年龄58.76±13.84岁。两组间年龄、性别比例、入院血糖、血乳酸、血肌酐、氧和指数、平均动脉压、APACHE II 评分均无显著差异（P>0.05）。PiCCO组患者的0～6h补液量明显多于对照组（P<0.05），而6～72h补液量较对照组明显减少（P＜0.05）。PICCO组患者的血液净化率、机械通气时间、ICU住院时间均显著减少（P<0.05），但是两组患者应用血管活性药物的比例、导管相关感染率和28天病死率均无显著差别（P>0.05）。ROC曲线发现年龄（AUC 0.71, 95% CI, 0.63～0.76，P=0.03）和APACHE II评分（AUC 0.78, 95% CI, 0.67～0.91，P=0.02）为预测28天病死率的重要因素。结论PiCCO可以精确指导SAP患者早期液体复苏，并减少机械通气时间和ICU住院时间。     

The polymorphisms of GSTM1, GSTT1, HYL1*2, and XRCC1, and aflatoxin B1-related hepatocellular carcinoma in Guangxi population, China.

AIM: High incidence rates of hepatocellular carcinoma (HCC) in Guangxi, China, are primarily due to heavy aflatoxin B1 (AFB1) exposure via corn and groundnut consumption. This study was designed to examine the polymorphisms associated of three carcinogen-metabolizing genes (namely: GSTM1, GSTT1, and HYL1*2) and one DNA-repair gene (namely: XRCC1), and investigate their role as susceptibility markers for HCC. METHODS: We conducted a case-control study including 257 cases of cancer and 649 hospital-based age, sex, ethnicity, and hepatitis B virus infection-matched controls to examine the role of genetic polymorphisms of four genes (GSTM1, GSTT1, HYL1*2, and XRCC1) in the context of HCC risk for the Guangxi population. Genomic DNA isolated from 2ml whole blood was used to genotype GSTM1, GSTT1, HYL1*2, and XRCC1 by means of polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analysis. RESULTS: GSTT1-null genotype was not significantly associated with the risk of HCC, but GSTM1-null genotype [adjusted odds ratio (OR)=2.29, 95% confidence interval (CI)=1.59-3.31], HYL1*2 genotypes with 113 His allele (namely: YH/HH, adjusted OR=2.55, CI=1.78-3.65), and XRCC1 genotypes with 399 Gln allele (namely: AG/GG, adjusted OR=2.47, CI=1.72-3.54) increased the HCC risk. Compared with those individuals who did not express any putative risk genotypes as reference (OR=1), individuals featuring all of the putative risk genotypes [GSTM1-null, HYL1*2-YH/HH, and XRCC1-AG/GG] did experience a significantly greater cancer risk (adjusted OR=10.83, CI=5.44-21.59, P(interaction)<0.01). Additionally, the risk of HCC did appear to differ more significantly among individuals featuring risk genotypes and high-level or long-term AFB1 exposure, whose adjusted ORs (CIs) were 52.44 (17.51-157.08) and 326.93 (38.58-2770.52), respectively. CONCLUSIONS: The results suggest that carcinogen metabolism and DNA-repair pathways may simultaneously modulate the risk of HCC for Guangxi population, and, particularly for these having high-level or long-term AFB1 exposure.     

MChip, a low density microarray, differentiates among seasonal human H1N1, North American swine H1N1, and the 2009 pandemic H1N1

Please cite this paper as: Heil et al. (2010) MChip, a low density microarray, differentiates among seasonal human H1N1, North American swine H1N1, and the 2009 pandemic H1N1. Influenza and Other Respiratory Viruses 4(6), 411–416. Background  The MChip uses data from the hybridization of amplified viral RNA to 15 distinct oligonucleotides that target the influenza A matrix (M) gene segment. An artificial neural network (ANN) automates the interpretation of subtle differences in fluorescence intensity patterns from the microarray. The complete process from clinical specimen to identification including amplification of viral RNA can be completed in <8 hours for under US$10. Objectives  The work presented here represents an effort to expand and test the capabilities of the MChip to differentiate influenza A/H1N1 of various species origin. Methods  The MChip ANN was trained to recognize fluorescence image patterns of a variety of known influenza A viruses, including examples of human H1N1, human H3N2, swine H1N1, 2009 pandemic influenza A H1N1, and a wide variety of avian, equine, canine, and swine influenza viruses. Robustness of the MChip ANN was evaluated using 296 blinded isolates. Results  Training of the ANN was expanded by the addition of 71 well‐characterized influenza A isolates and yielded relatively high accuracy (little misclassification) in distinguishing unique H1N1 strains: nine human A/H1N1 (88·9% correct), 35 human A/H3N2 (97·1% correct), 31 North American swine A/H1N1 (80·6% correct), 14 2009 pandemic A/H1N1 (87·7% correct), and 23 negative samples (91·3% correct). Genetic diversity among the swine H1N1 isolates may have contributed to the lower success rate for these viruses. Conclusions  The current study demonstrates the MChip has the capability to differentiate the genetic variations among influenza viruses with appropriate ANN training. Further selective enrichment of the ANN will improve its ability to rapidly and reliably characterize influenza viruses of unknown origin.     

CYP1A1 , GSTM1 , GSTT1 and NQO1 polymorphisms and colorectal adenomas in Japanese men

AIM: To investigate the role of functional genetic poly-morphisms of metabolic enzymes of tobacco carcinogens in the development of colorectal adenomas. METHODS: The study subjects were 455 patients with colorectal adenomas and 1052 controls with no polyps who underwent total colonoscopy in a preretirement health examination at two Self Defense Forces hospitals. The genetic polymorphisms studied wereCYP1A1*2A (rs 4646903), CYP1A1*2C (rs 1048943), GSTM1 (null or non-null genotype), GSTT1 (null or non-null genotype) and NQO1 C609T (rs 1800566). Genotypes were determined by the polymerase chain reaction (PCR)-restriction fragment length polymorphism or PCR method using genomic DNA extracted from the buffy coat. Cigarette smoking and other life-style factors were ascertained by a self-administered questionnaire. The associations of the polymorphisms with colorectal adenomas were examined by means of OR and 95%CI, which were derived from logistic regression analysis. Statistical adjustment was made for smoking, alcohol use, body mass index and other factors. The gene-gene interaction and effect modification of smoking were evaluated by the likelihood ratio test. RESULTS: None of the five polymorphisms showed a significant association with colorectal adenomas, nor was the combination of GSTM1 and GSTT1 . A borderline significant interaction was observed for the combination of CYP1A1*2C and NQO1 (P = 0.051). The OR associated with CYP1A1*2C was significantly lower than unity among individuals with the NQO1 609CC genotype. The adjusted OR for the combination of the CYP1A1*2C allele and NQO1 609CC genotype was 0.61 (95%CI: 0.42-0.91). Although the interaction was not statistically significant (P = 0.24), the OR for individuals carrying the CYP1A1*2C allele and GSTT1 null genotype decreased significantly compared with those who had neither CYP1A1*2C allele nor GSTT1 null genotype (adjusted OR: 0.69, 95%CI: 0.49-0.97). Smoking did not modify the associations of the individual polymorphisms with colorectal adenomas. There w     

Analysis of HLA-DRB1, DQA1, DQB1 haplotypes in Sardinian centenarians

Some genetic determinants of longevity might reside in those polymorphisms for the immune system genes that regulate immune responses. Many longevity association studies focused their attention on HLA (the human MHC) polymorphisms, but discordant results have been obtained. Sardinians are a relatively isolate population and represent a suitable population for association studies. Some HLA-DR and DQ alleles form very stable haplotypes with a strong linkage disequilibrium. In a previous study on Sardinian centenarians we have suggested that HLA-DRB1 *15 allele might be marginally associated to longevity. HLA-DR,DQ haplotypes are in strong linkage disequilibrium and well conserved playing a role in the association to diseases. Hence, we have evaluated, by amplification refractory mutation system/polymerase chain reaction (ARMS-PCR) the HLADQA1 and HLA-DQB1 allele frequencies in 123 centenarians and 92 controls from Sardinia to assess whether the association to HLA-DRB1 *15 allele may be due to the other genes involved in the HLA-DR,DQ haplotypes. The frequencies of HLA-DQA1, DQB1 haplotypes were not significantly modified in centenarians. Nevertheless by evaluating the frequency of DRB1 *15 linked haplotypes, we observed a not significant increase in centenarians of HLA-DQA1 *01, DQB1 *05 and HLA-DQA1 *01,DQB1 *06 haplotypes. These data suggest that these haplotypes might have a role in determining life span expectancy and longevity.     

Role of CYP2D6, CYP1A1, CYP2E1, GSTT1, and GSTM1 genes in the susceptibility to acute leukemias

Acute leukemias (ALs) are heterogeneous diseases. Functional polymorphisms in the genes encoding detoxification enzymes cause inter-individual differences, which contribute to leukemia susceptibility. The CYP2D6, CYP1A1, CYP2E1, GSTT1, and GSTM1 polymorphisms in ALL (n = 156) and AML (n = 94) patients and 140 healthy controls were genotyped by PCR and/or PCR-RFLP using blood or bone marrow samples. No association was observed between the GSTT1 gene deletion and patients (OR = 0.8, 95% CI = 0.4-1.7 for AMLs and OR = 0.9, 95% CI = 0.5-1.6 for ALLs). Patients with ALL and AML had a higher prevalence of the GSTM1 deletions compared to controls but only the difference among adult AML patients (OR = 2.1, 95% CI = 1.0-4.2) was statistically significant. The CYP2D6*3 variant allele frequency was lower in the overall acute leukemia patients (0.6%) compared to controls (P = 0.03). CYP2D6*1/*3 genotype frequency also showed a protective association in AML patients (OR = 0.09, 95% CI = 0.01-1.7; P = 0.04). We also found a risk association for CYP2E1*5 in ALL and AML (OR = 3.6, 95% CI = 1.4-9.4 and OR = 3.9, 95% CI = 1.4-10.5, respectively). No association was found for the studied CYP2D6*4, CYP1A1*2A, and GSTT1"null" variants and the risk of acute leuke-mia (ALL or AML). This case-control study suggests a contribution of CYP2E1, CYP2D6, and GSTM1 "null" variants to the development of acute leukemias.     

Association analyses of genetic polymorphisms of GSTM1, GSTT1, NQO1, NAT2, LPL, PRSS1, PSTI, and CFTR with chronic alcoholic pancreatitis in Japan

Background: Excessive consumption of alcohol is involved in the onset of pancreatitis. However, most of heavy drinkers do not always develop chronic pancreatitis. Various genetic factors appear to be involved in these individual differences in onset of chronic alcoholic pancreatitis. Here we investigated a possible association of alcoholic pancreatitis with polymorphisms of the various genes belong to the phase II detoxification enzymes responsible for metabolism of the oxidative compounds, and the several genes that have relevance to inherited pancreatitis. Methods: The subjects consisted of 53 patients with chronic alcoholic pancreatitis, 54 alcoholic patients without pancreatic dysfunction, and 42 healthy individuals. DNA was extracted from the peripheral nucleated blood cells of all subjects and genetic mutations and subtypes were analyzed by the PCR and RFLP methods. We examined the correlation between chronic alcoholic pancreatitis and variants of the phase II detoxification enzymes such as Glutathione S-transferase M1 (GSTM1), glutathione S-transferase theta 1 (GSTT1), NADPH-quinone oxidoreductase 1 (NQO1), and N-acetyl transferase (NAT2). In addition, genes of lipoprotein lipase (LPL), cationic trypsinogen (PRSS1), pancreatic secretory trypsin inhibitor (PSTI), and cystic fibrosis transmembrane conductance regulator (CFTR) were also analyzed. Results: Frequencies of the gene deletion of GSTM1 and GSTT1 in addition to the C-allele frequency of NQO1 tended to be higher in the alcoholic patients with (AlCP) or without pancreatic dysfunction (Alc) than in the healthy controls although the difference was not significant. The NAT2 gene showed no relation with Alc and AlCP patients. PSTI, LPL, PRSS1, and CFTR genes presented no association with chronic alcoholic pancreatitis. Conclusions: All genes analyzed in the present study lacked association with chronic alcoholic pancreatitis. However, the gene deletion of GSTM1 and GSTT1, and the C-allele of NQO1 cannot be ruled out for association with alcoholism.     

CYP1A1, CYP2E1, GSTM1, GSTT1, EPHX1 exons 3 and 4, and NAT2 polymorphisms, smoking, consumption of alcohol and fruit and vegetables and risk of head and neck cancer

Purpose As risk-modifiers of alcohol and tobacco effects, metabolic genes polymorphisms were investigated as susceptibility candidates for squamous cell carcinoma of the head and neck (SCCHN). Methods A total of 210 cases and 245 hospital controls, age and gender matched, were genotyped for CYP1A1, CYP2E1, GSTM1, GSTT1, EPHX1 exons 3 and 4, and NAT2 polymorphisms. A measurement of the biological interaction among two risk factors was estimated by the attributable proportion (AP) due to interaction and its 95% confidence interval (CI). Results SCCHN risk was associated with high-levels of alcohol intake [OR = 3.50 (95%CI: 1.93–6.35) and OR = 6.47 (95%CI: 2.92–14.35) for 19–30 g/day and >30 g/day, respectively], cigarette smoking [OR = 3.47 (95%CI: 1.88–6.41) and OR = 7.65 (95%CI: 4.20–13.90) for 1–25 and >25 pack-years of smoking, respectively] and low-fruit and vegetables consumption (OR = 2.45; 95%CI: 1.53–3.92). No differences were observed for the genotypes or haplotypes distributions among cases and controls, and no biological interaction emerged from gene–gene and gene–environment interaction analyses. An attributable proportion (AP) due to biological interaction of 0.65 (95%CI: 0.40–0.90) was detected for heavy drinkers with a low intake of fruit and vegetables, and an AP of 0.40 (95%CI: 0.10–0.72) resulted forever smokers with low fruit and vegetables consumption. Conclusions Even in presence of high alcohol consumption or cigarette smoking, a high intake of fruit and vegetables might prevent the development of around one quarter of SCCHN cases. The lack of interaction between the studied polymorphisms and the environmental exposures suggests that chronic consumption of tobacco and alcohol overwhelm enzyme defences, irrespective of genotype.