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CT结肠成像用于结直肠癌筛查、诊断和术前分期中的不良事件:来自日本全国的调查研究

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国际医学放射学杂志 2018年第1期 118-118页

作者： K.Nagata K.Takabayashi T.Yasuda M.hirayama S.Endo R.Nozaki 赵玉娇 Committee for Quality Assessment of Colorectal Cancer Screening Japanese Society of Gastrointestinal Cancer Screening

摘要目的回顾性分析CT结肠成像(CTC)用于结直肠癌筛查、诊断和术前分期各检查项目与不良事件发生频率和大小的相关性。方法采用在线问卷的形式对日本全国CTC

关键词：术前分期不良事件结直肠癌 CT 结肠成像

日本血吸虫虫卵毛蚴中带信号序列基因的全长cDNA序列分析

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中国血吸虫病防治杂志 2006年第1期18卷 10-14页

作者：余传信殷旭仁菊池三惠子平山谦二朱荫昌江苏省血吸虫病防治研究所无锡214064 日本长崎大学热带医学研究所分子与免疫遗传室

目的对带有信号序列的日本血吸虫虫卵毛蚴基因的全长cDNA序列进行分析。方法根据日本血吸虫虫卵毛蚴中带信号序列的cDNA片段序列设计合成基因特异性引物。以虫卵的第一链全长cDNA为模板,采用套式PCR,快速扩增带信号序列的虫卵毛蚴cDNA的... 详细信息

目的对带有信号序列的日本血吸虫虫卵毛蚴基因的全长cDNA序列进行分析。方法根据日本血吸虫虫卵毛蚴中带信号序列的cDNA片段序列设计合成基因特异性引物。以虫卵的第一链全长cDNA为模板,采用套式PCR,快速扩增带信号序列的虫卵毛蚴cDNA的5′、3′末端片段,将特异性扩增片段进行TA克隆与序列分析。将每个带信号序列的虫卵毛蚴cDNA片段序列与其5′、3′末端片段序列进行比对和拼接,构建每个带信号序列的虫卵毛蚴基因的完整全长cDNA序列,对部分带信号序列虫卵毛蚴基因的信号序列所对应的基因组序列结构进行分析。结果本研究分析了30个带有信号序列的cDNA片段,其中16个片段的5′、3′末端cDNA序列被成功扩增,并测定了它们的DNA序列,通过序列比对和拼接,获得了该16个虫卵毛蚴基因的全长cDNA序列。对开放阅读框演绎的氨基酸序列进行分析,发现基因SjP4001与SjP1531的信号肽序列完全相同,而基因SjP3742和SjP1183的信号肽氨基酸序列甚为相似,从而进一步证明不同的基因可拥有相同或相似的信号肽。基因组序列分析表明,基因SjP1183的信号肽基因序列与成熟肽基因序列通过交替拼接(alternativesplicing)方式进行拼接;而基因SjP4001、SjP1531、SjP3742的信号肽基因序列与成熟肽基因序列之间可能是通过转移拼接的方式进行拼接。结论确定了16个带有信号序列的虫卵毛蚴基因的全长cDNA序列,虫卵毛蚴基因可通过交替拼接方式或转移拼接方式获得信号肽序列。

关键词：日本血吸虫基因克隆全长cDNA序列拼接模式

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具有NOTCH3 S180C的CADASIL患者发病年龄和幻觉提前

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世界核心医学期刊文摘（神经病学分册） 2006年第3期2卷 18-18页

作者： Nakamura T. Watanabe H. hirayama M. G. Sobue 高中宝 Department of Neurology Nagoya University Graduate School of Medicine 65 Tsurumai-cho Showa-ku Nagoya 466-8550 Japan

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited disease leading to strokes and vascular dementia. The average age of onset for stroke is 45 years with a range of about 30 to 70 years. We describe a Japanese CADASIL family showing S180C in the exon 4 of NOTCH3, presenting an anticipation of the onset age for stroke. MRI demonstrated a similar extent of white matter involvement in younger and older individuals, supporting the presence of anticipation. In addition, hallucinations in 71%of affected patients, and delusions in 57%were also described. Our findings in this family suggest that a specific NOTCH3 mutation was related to unique clinical features, although such correlations have seldom been encountered in CADASIL.

关键词：发病年龄 CADASIL NOTCH3 S180C 皮质下梗死脑白质病血管性痴呆遗传性疾病受

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纯自主神经功能衰竭和多系统萎缩进展及预后的对比研究

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世界核心医学期刊文摘（神经病学分册） 2005年第10期1卷 26-26页

作者： Mabuchi N. hirayama M. Koike Y. G. Sobue 李一明 Department of Neurology Nagoya University Graduate School of Medicine Nagoya 466- 8550 Japan Dr.

Objective: To clarify the progression of autonomic symptoms and functional de terioration in pure autonomic failure (PAF), particularly in comparison with mul tiple system atrophy (MSA). Methods: The investigation involved eight patients w ith PAF (M/F=7/1; mean age at onset, 57 years) and 22 with probable MSA matched for age at onset (M/F=14/8; onset 56 years). Subjects were followed up for neuro logical symptoms, activities of daily living, and autonomic function for more th an seven years. Autonomic functional tests were carried out. Results: In PAF, fa inting or sudomotor dysfunction occurred first, followed by constipation and syn cope. Urinary dysfunction developed late, and respiratory dysfunction was not ev ident. This clinical course contrasted sharply with that in MSA, where early uri nary dysfunction usually proceeded to sudomotor dysfunction or orthostatic hypot ension (p=0.004), followed by respiratory dysfunction (p=0.0004). Results of pha rmacological tests also distinguished PAF from MSA. Progression and prognosis in patients with PAF did not worsen, unlike the steady progressive autonomic dysfu nction in MSA (p < 0.0001, p < 0.0001, p=0.0009, and p=0.003, for progression to modified Rankin scale grade III, IV, V, and death, respectively). Conclusions: The time course and pattern of progression of autonomic failure differed signifi cantly between PAF and MSA. Patients with PAF had slower functional deterioratio n and a better prognosis.

关键词：多系统萎缩泌尿功能障碍呼吸功能障碍发病年龄神经症状随访内容自主功能直立性低血压时间过程临床进展

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