Ignoring Distant Genealogic Loops Leads to False-positives in Homozygosity Mapping

Distant consanguineous loops are often unknown or ignored during homozygosity mapping analysis. This may potentially lead to an increased rate of false-positive linkage results. We show that failure to take into account the distant loops may seriously underestimate the degree of consanguinity, especially for people from genetically isolated populations; in 6 Alzheimer's disease (AD) patients the distant loops accounted for 57.7 % of inbreeding on average. Theoretical evaluation showed that ignoring distant loops, which account for 18-75% of inbreeding, inflates the frequency of false positive conclusions substantially in 2-point linkage analysis, up to several hundred times. In multipoint linkage analysis of the 6 AD patients a chromosome-wide "empirical" significance of 5% corresponded to a true false positive rate of 11.1%. We show that converting multiple loops to a hypothetical loop capturing all inbreeding may be a convenient solution to avoid false positive results. When extended genealogic data are not available a hypothetical loop may still be constructed based on genomic data.     

Predicting development of sustained unresponsiveness to milk oral immunotherapy using epitope-specific antibody binding profiles

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Chromatin interactions in differentiating keratinocytes reveal novel atopic dermatitis– and psoriasis-associated genes

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阈值校正方式对PET脑显像统计参数图分析显示结果的影响

目的 探讨各种阈值校正方法对统计参数图(SPM)软件统计比较结果显示的影响.方法 利用Hoffman标准脑模型制作缺损模型PET成像与正常模型PET成像,进行统计参数图的统计比较.并选取脑梗死患者与健康检查者进行统计参数图的统计比较.结果 校正与非校正产生的结果有差异,其中族错误率(FWE)校正(P=5×10-2)得到的统计分析结果激活区最少及最小,其次是错误发现率(FDR)校正(P=5×10-2),非校正方式(P=1×10-3)得到的激活区最多及最大.但FDR校正效果不稳定,有时不如不校正.结论 统计参数图软件中FWE校正方法可明显降低假阳性,得到的结果可信度稳定地高于非校正方法.     

Anastomotic false aneurysms with aortic Dacron graft after twenty-five years

One of the early diamond crimped knitted polyester (Dacron) grafts was surgically excised after implantation for 25 years in the aorto-billiac position because of false aneurysm formation at the three anastomotic sites. The sutures were no longer visible. While the areas around the false aneurysm were poorly incorporated, the graft limbs were well encapsulated with some endothelial-like cells on the luminal surface. The integrity of the graft was well preserved despite mild fraying and the disruption of one stitch.     

Giant aneurysm of the calloso-marginal artery

A giant aneurysm of the right callosomarginal artery is reported in a 3-month-old child. This location is rare: including our case reported here, only three cases have been described. Clinicoradiological findings are presented and the surgical procedure is illustrated.     

乳腺疾病红外扫描假阳性假阴性图象204例病理分析

我院在１９９１年至１９９５年间使用电脑红外乳腺诊断仪检查１４１０例门诊和住院乳腺病人。通过红外诊断与病理诊断的综合分析，其中有８１例假阴性，有１２３假阳性。本文从病理角度讨论假性图象的成因。结果表明，病灶的小血管数、炎细胞数、纤维反应和上皮增生程度是红外扫描显示各种不同影象的主要因素。某些特殊的恶性病变，上述四项病变指标不足，显示假阴性影象。反之，某些良性病变，由于病变的特性使上述四项指标增强，则显示假阳性影象。     

Conservative management of renal artery pseudoaneurysm following partial nephrectomy

A bleeding renal artery pseudoaneurysm is a recognised complication occurring after partial nephrectomy. The bleeding is usually suspected when a patient presents with haematuria following the procedure and the reported management is with radiologically guided embolisation. We report a case of renal artery pseudoaneurysm successfully managed conservatively, giving another potential management option in non-torrential haemorrhage.     

KRASP1于KRAS基因突变检测中的潜在影响

目的 论证KRAS假基因对KRAS基因突变检测结果存在潜在性影响.方法 检测5个确证结直肠癌的肿瘤组织序列,并以序列比对的方式对KRASP1与KRAS基因进行同源性比较与分析.结果 KRASP1与KRAS存在高度同源性.在KRAS基因突变检测的实验中,KRASP1的存在对扩增类反应产生一定的不良影响,影响程度与检测方法的类型以及实验的设计有关.结论 KRASP1的产生与其原始序列可能是来自于同期的KRAS基因的一个转录本,并随着时间的推移逐渐差异化,但仍保留着大部分的相似性,并有进一步的分析所证实.KRASP1对KRAS基因突变检测结果存在潜在影响,如何避免同源性干扰将取决于分子诊断方法的实验设计.