利用CNV-seq技术产前诊断Pallister-Killian综合征胎儿一例

应用拷贝数变异测序(copy number variation sequencing,CNV-seq)技术鉴别来源不明的胎儿标记染色体,明确其遗传物质的来源,并探讨此技术在产前诊断中的应用价值。讨论Pallister-Killian综合征(Pallister-Killian syndrome,PKS)的临床特征及遗传学特点,提高对此类罕见染色体疾病的认识。该病例因在妊娠中期超声发现胎儿异常而行羊水穿刺进行CNV-Seq检测,同时分析胎儿和父母的核型。羊水CNV-Seq结果示该样本12号染色体p13.33-p11.1处检测到拷贝数为3.5、片段大小为34.70 Mb的嵌合重复区域;羊水染色体核型结果为47,XY,+i(12)(p10)[58]/46,XX[42],综合上述结果考虑为PKS。通过结合超声结果,综合应用染色体G显带核型分析和CNV-seq技术能准确确认染色体异常片段来源,在产前有效诊断PKS患者。     

皮肤瘙痒神经传导介质的研究进展

瘙痒是皮肤科的一种常见症状,是多因素相互作用的结果,其发生受到中枢和外周机制的双重调控,但具体发生机制尚不十分清楚。近年来随着研究的不断深入,多种物质如组胺、乙酰胆碱、5-羟色胺、蛋白酶和蛋白酶相关受体、细胞因子、阿片样肽等介质在瘙痒产生过程中起重要作用,这些介质通过刺激C类神经纤维或直接与皮肤感觉神经纤维受体相结合来介导瘙痒。本文就将皮肤瘙痒的神经传导及传导介质作一综述。     

输卵管卵巢脓肿的CT诊断价值

目的 总结分析女性输卵管卵巢脓肿的CT特征，以寻求和探讨鉴别诊断依据及CT诊断的价值。方法 回顾性分析10例输卵管卵巢脓肿患者CT腹盆腔增强扫描资料。结果 10例患者CT均显示附件区厚壁囊性或囊实混合性肿块，肿块外缘模糊毛糙，增强多见脓肿壁呈厚壁分层强化及内部强化分隔。其他伴随的CT表现：子宫骶骨韧带增厚9例，直肠周围、骶前脂肪密度增高模糊9例，显示输卵管扩张积脓或积液的管状结构影6例，宫腔积液4例。CT观察到脓肿与盆腔结构粘连包括：肿块与子宫粘连者9例，与直肠、乙状结肠粘连者4例，与盆腔小肠肠管及盆壁结构广泛粘连3例；显示腹膜增厚伴腹水及右侧输卵管卵巢脓肿伴阑尾炎各2例。结论 CT除了能观察附件区囊实性肿块，还能显示相邻盆腔器官的受累粘连及盆底软组织或筋膜层的炎性浸润，能对附件脓肿做定性和定位诊断，对诊断不清的可疑妇科感染有鉴别价值。     

下肢动脉硬化性闭塞症介入治疗围手术期并发症分析

目的 总结下肢动脉硬化性闭塞症介入治疗围手术期相关并发症的防治经验.方法 对207例下肢动脉硬化件闭塞症行介入治疗,统计围手术期各种并发症的发生情况,分析并发症的发生率与泛大西洋介入协会(transAtlantic inter-society consensus,TASC)分型分级之间的关系以及糖尿病和冠心病对重要脏器并发症发生率的影响.结果 本组207例,介入手术成功190例.17例失败,其中13例为介入操作失败、4例死于术后重要脏器并发症.围手术期并发症包括穿刺点出血12例、假性动脉瘤4例、消化道出血2例、动脉破裂6例、脑梗塞8例、急性心衰9例、呼衰13例、肾衰6例、支架内血栓形成5例和蓝趾综合征1例.在本组患者的TASC分型中,股腘动脉病变介入治疗并发症的发生率为39.84%(51/128),高于主髂型的18.99%(15/79)(P<0.05);患有糖尿病以及合并糖尿病和冠心病患者重要脏器并发症的发生率分别为27.66%(13/47)和24.49%(12/49),高于无合并症患者的5%(2/40)(P<0.05).结论 下肢动脉硬化性闭塞症介入治疗围手术期并发症发生率较高可能与术中操作不当、病变类型复杂及合并糖尿病和冠心病有关,术前注意合并症的处理及术中选择合理治疗方式、缩短手术时间等可减少并发症的发生.     

As2O3处理前后K562细胞基因表达变化的基因芯片检测

目的应用基因芯片研究三氧化二砷(As2O3)处理前后K562细胞基因表达的变化.方法提取As2O3处理前后K562细胞的总RNA,纯化为mRNA后再反转录为cDNA.cDNA经限制性内切酶Sau3AI切割后,cDNA片段分别用Cy3和Cy5标记,与自制的包含348个基因片段的胎盘库芯片杂交.结果杂交结果经扫描和软件分析,发现了11个差异表达的基因片段,其中有3个基因片段与细胞凋亡密切相关.结论我们构建的胎盘库基因芯片可以成功地用于研究药物作用前后基因表达的变化.     

小儿肱骨髁上骨折112例治疗体会

目的总结小儿肱骨髁上骨折的治疗体会。方法回顾性分析112例小儿肱骨髁上骨折病人的诊治经过,并结合文献对治疗方法进行分析。结果治疗方法分为两大类,即手术治疗和非手术治疗。其中手术治疗38例,占34%,非手术74例,占66%。共有并发症6例,占5.4%。结论小儿肱骨髁上骨折治疗方法的选择相当重要,必须针对具体病例具体分析,以非手术治疗为主,不失时机地选择手术治疗,尽可能避免并发症的发生。     

腹主动脉瘤的治疗方法和疗效的评价

腹主动脉瘤(abdominal aortic aneurysm,AAA)是最常见的动脉瘤,是血管外科治疗的主要疾病之一。AAA破裂的总体死亡率高达80%~90%,而且AAA绝大多数与动脉硬化有关。随着社会老龄化,以及检测手段的不断提高,AAA发病率呈上升的趋势,其治疗也越来越得到重视。AAA由于有较高的破裂倾     

Influence of pain and urinary symptoms on quality of life in young men with chronic prostatitis-like symptoms

BACKGROUND: Our aims in the present study were to estimate the influences of pain and urinary symptoms on quality of life, and to determine which of these two variables has the most predictive power with respect to quality of life in young men with chronic prostatitis-like symptoms. METHODS: Chronic prostatitis-like symptoms were measured by the National Institutes of Health-Chronic Prostatitis Symptom Index. Of the 28,841 men aged 20 years who lived in the study community, 18,495 men (a response rate 64.1%) agreed to participate in the study. A total of 1057 men who complained of symptoms indicative of chronic prostatitis were included in the study. The influences of pain and urinary symptoms on quality of life were determined using logistic regression analysis. The receiver operating characteristic (ROC) curve was used to estimate the predictive ability of each of these variables with respect to quality of life. RESULTS: Results from multivariate analysis showed that both pain and urinary symptoms were associated with an increased likelihood of impaired quality of life, although pain contributed more to a reduced quality of life than urinary symptoms. Relative to men who experienced mild pain, men who experienced moderate pain had a 3.9-fold risk of poor quality of life (odds ratio [OR], 3.87; 95% confidence interval [CI], 2.86-5.23; P < 0.001) and those who experienced severe pain had a 15.7-fold risk of reduced quality of life (OR, 15.68; 95% CI, 6.59-37.35; P < 0.001). Moderate urinary symptoms were associated with a 1.4-fold risk of bother (OR, 1.41; 95% CI, 1.01-1.99; P < 0.001) and severe urinary symptoms were associated with 2.4-fold risk (OR, 2.39; 95% CI, 1.37-4.12; P < 0.001), relative to mild urinary symptoms. Comparison of the effects of pain and urinary symptoms showed that pain severity had the most predictive power for bother, quality of life, and quality-of-life impact. The areas under the ROC curves for bother, quality of life, and quality-of-life impact were 71.3%, 69.3% and 72.5%, respectively. CONCLUSION: Urinary symptoms and pain might be associated with an increased likelihood of impaired quality of life in young men with chronic prostatitis-like symptoms. In addition, our findings suggest that pain severity is the most influential variable for determining quality of life in this population.