神经丛蛋白A2(PLXNA2)基因多态性与精神分裂症的关联研究

目的:探讨神经丛蛋白(PLXNA2)基因与汉族人群精神分裂症的关联。方法:采用DNA测序检测方法,依据ICD-10诊断标准,在735例汉族精神分裂症住院患者和1316例年龄、性别匹配的正常对照者中,探索PLXNA2基因5个单核苷酸多态性(SNP)位点与精神分裂症的关联。结果:PLXNA2基因的4个SNPs位点与精神分裂症关联(均P<0.05);由rs3811383-rs841865-rs2785622组成的单体型ATT及由rs841865-rs752016组成的单体型AC与精神分裂症关联(均P<0.05)。结论:本研究结果提示PLXNA2基因多态性在中国汉族人群中与精神分裂症关联。     

慢性外源性过敏性肺泡炎七例病理诊断和临床分析

目的 探讨慢性外源性过敏性肺泡炎的病理诊断及其诊断思路.方法 收集首都医科大学附属北京朝阳医院2006年10月至2009年3月收治的、经病理确诊且有完整临床资料的慢性外源性过敏性肺泡炎7例,对其病理组织学形态和临床资料进行综合分析,并对文献进行复习.结果 7例慢性外源性过敏性肺泡炎患者,男性4例,女性3例,年龄30～65岁,平均年龄48岁,均表现为慢性起病,5例因近期加重入院,其中4例有刺激性气体或粉尘、宠物接触史;2例常见过敏原检测阳性;胸部高分辨CT显示小叶中心性小结节影及纤维条索影、磨玻璃影和小叶间隔增厚;支气管肺泡灌洗液淋巴细胞数量增高,CD4+/CD8+细胞比值＜1;肺功能检查均显示肺活量降低、肺总量降低、呼吸总气道阻力增高及周边气道阻力增高为主.5例行开胸肺活检,2例行肺移植手术.病理组织学均表现为:细支气管周围慢性炎及间质纤维化,不典型非干酪性上皮样肉芽肿,支气管腔内可见上皮样吞噬细胞渗出和新生的纤维息肉样组织形成;5例开胸肺活检的病例支气管腔内可见中性粒细胞渗出,5例均确诊为慢性外源性过敏性肺泡炎伴急性发作;2例慢性外源性过敏性肺泡炎终末纤维化期行肺移植手术.结论 慢性外源性过敏性肺泡炎组织病理学表现具有一定的诊断特征,但与其他诸多弥漫性肺实质性疾病具有相似的病理改变,须结合病史、影像学等临床信息综合分析,从而明确诊断,进行有效治疗.     

Detection and full genomic analysis of G6P[9] human rotavirus in Japan

A rare genotype G6P[9] was identified in two human group A rotavirus strains designated as KF14 and KF17, that were detected in stool specimens from children with diarrhea in Japan. VP7 gene sequences of these two strains were identical and genetically closely related to G6 human rotavirus strains reported in European countries and the United States. To our knowledge, this is the first report of detection of a G6 human rotavirus in Japan. For further genetic analysis to elucidate the origin of the G6 rotavirus, nearly full-length sequences of all 11 RNA segments were determined for the KF17 strain. The complete genomic constellation of KF17 was determined as G6-P[9]-I2-R2-C2-M2-A3-N2-T3-E3-H3, a novel genotype constellation for human rotavirus. Phylogenetic analysis indicated that VP6, VP1-3, and NSP2 genes of KF17 clustered with bovine-like G6 human strains and some animal strains into sub-lineages distinct from those of common DS-1-like G2 human rotaviruses. On the other hand, KF17 genes encoding VP4, NSP1, and NSP3-5 showed high sequence identities to the human G3P[9] strain AU-1, and clustered with AU-1 and some feline strains within the same lineage. These findings suggested that the G6P[9] human rotavirus detected in Japan may have occurred through reassortment among uncommon bovine-like human rotaviruses and human/feline AU-1-like rotaviruses.     

甲状腺球蛋白抗体对电化学发光免疫分析法测定甲状腺球蛋白的影响

采用电化学发光免疫分析法(ECLIA)同时测定甲状腺球蛋白(Tg)、自身甲状腺球蛋白抗体(TgAb)值,并用回收实验研究TgAb对Tg测定值的影响。甲状腺疾病患者血样84例,测定Tg、TgAb。回收实验分为三组。第一组分别加入50、100和200 ng/ml的标准Tg;第二组TgAb≥4 000 IU/ml的血样对倍稀释5次,分别测定Tg、TgAb值,并加入100 ng/ml标准Tg;第三组TgAb浓度梯度组,分别加入100 ng/ml标准Tg。计算回收率(R)。结果显示血清对倍稀释后,TgAb实测值逐渐下降;Tg实测值、Tg计算值逐渐上升,两者的差值随稀释倍数的增加而增大。当R<80%时,有22人(91.7%)TgAb>115 IU/ml。ECLIA测定Tg时,TgAb的干扰导致Tg测定值低于真实值,并呈浓度依赖性。TgAb的存在是导致回收率降低的主要原因。     

基于正则化的磁共振相控阵线圈图像均匀性校正算法

由于能提供更大的扫描视野,更高的信噪比和缩短扫描时间,相控阵线圈已经被广泛使用在磁共振成像(MRI)设备中。相控阵线圈的图像重建合成最常用的是SOS算法,但是SOS算法通常会造成图像的灰度不均匀。这样不仅会直接影响医生诊断的准确性,同时对图像自动分割等后处理技术的使用也会产生不良影响。本文提出一种改进的基于正则化的最小二乘化方法,用于MRI相控阵图像的合成。在该方法中利用均匀的大体线圈和相控阵线圈进行预扫描获得线圈敏感图,通过引入正则函数来控制重建图像的噪声。此外,在正则函数中还使用大体线圈的预扫描图像作为参考图像。使用水模和志愿者成像数据验证,该方法能够有效提高相控阵线圈重建图像的均匀性。     

Treatment of infant postrenal acute renal failure following obstruction due to upper urinary calculi

The surgical emergency treatments and curative effects of postrenal acute renal failure following obstruction due to upper urinary calculi in infants were evaluated. Of the 13 infants with postrenal acute renal failure following obstruction due to upper urinary calculi, 11 received retrograded catheterizations of the ureter with semi-rigid ureteroscopy (F 6.8), and two received open ureterolithotomy. The results showed that only one infant had anuresis and continuous reduction of hemoglobin 5 h after the open ureterolithotomy and received exploration via excision and peritoneal dialysis, and the remaining 12 patients well recovered in this group. The renal function of all the patients was restored without postoperative complications. It is concluded that the retrograded catheterization of the ureter with ureteroscopy is a minimally invasive, safe and effective therapy for postrenal acute renal failure following obstruction due to upper urinary calculi in infants. For those infants whose urethras are thin and small, the open ureterolithotomy is a suitable method. But patients with bleeding tendency need to be corrected prior to the open ureterotomy to remove obstructions.     

携带GJB2基因突变中老年人的听力学特点分析

目的 对中老年人进行GJB2基因突变筛查,探讨携带不同GJB2基因突变的中老年人的听力情况.方法 收集648例中老年人的听力学资料和血样,提取基因组DNA,经聚合酶链反应(polymerase chain reaction,PCR)扩增GJB2基因编码区,利用直接测序方法获得基因型,并应用统计学分析方法研究携带GJB2基因突变的中老年人在不同听力组间的分布情况及携带不同GJB2基因突变中老年人的听力情况.结果 根据听力学资料,将所有中老年人分为四组:正常对照组(A组,157人,24.23%)、轻度听力下降组(B组,199人,30.71%)、中度听力下降组(C组,226人,34.88%)、重度听力下降组(D组,66人,10.19%);通过直接测序的方法,共发现22例分别携带4种移码突变,包括235delC杂合突变(16例,2.78%)、299-300delAT杂合突变(3例,0.46%)、176-191del16杂合突变(1例,0.15%)、512insAACG杂合突变(2例,0.31%);所有突变携带者在不同组间的分布情况为:正常对照组3人(13.64%)、轻度听力下降组6人(27.27%)、中度听力下降组8人(36.36%)、重度听力下降组5人(占22.73%);对四种突变携带者的听力学情况进行分析,176-191del16突变携带者的听力下降程度最轻,而512insAACG突变携带者的听力下降程度最重,经统计学分析, 左耳0.25 kHz频率的平均听阈值在各种突变携带者间的差异具有统计学意义(P=0.03).结论 与整体中老年人群相比,携带GJB2 基因突变的中老年人在中度听力下降组和重度听力下降组间所占的比例增高;各种突变携带者听力下降程度不同.