新生儿PURA综合征是一种罕见的常染色体显性遗传病,临床表现缺乏特异性。本文收集1例患儿的临床及实验室检查资料,利用Illumina二代测序平台,使用xGen®Exome Research Panel杂交捕获人类全部基因的外显子区及相邻内含子区域,应用...新生儿PURA综合征是一种罕见的常染色体显性遗传病,临床表现缺乏特异性。本文收集1例患儿的临床及实验室检查资料,利用Illumina二代测序平台,使用xGen®Exome Research Panel杂交捕获人类全部基因的外显子区及相邻内含子区域,应用高通量测序仪进行测序,最后进行Sanger验证。发现5号染色体PURA基因的1号外显子存在一个自发的整码杂合变异c.697_699del(p.F233del),根据美国医学遗传学与基因组学学会标准,为致病性整码突变。经检索多个数据库报道罕见,进一步丰富了本病的数据库,拓宽临床医师对于自发基因突变疾病的诊断思路。展开更多
The Jayachamarajapura schist belt in western Dharwar craton, southern India, is predominantly an ultramafics dominant terrain. These rocks have been extensively metamorphosed and altered to serpentinite. The komatiite...The Jayachamarajapura schist belt in western Dharwar craton, southern India, is predominantly an ultramafics dominant terrain. These rocks have been extensively metamorphosed and altered to serpentinite. The komatiite nature of ultramafics is conspicuous. In most of the areas of the belt these ultramafics are massive in nature. However, some of the ultramafic units show layered nature. But, their outcrops are encompassed within the massive komatiitic bodies. These komatiitic ultramafics are predominantly Mg-rich in nature. The layered rocks are also Mg-rich, and their field setting and geochemistry suggest their intermittent occurrence as sills, during the differentiation of peridotitic magma. The layered rocks, which have been intensely serpentinisation show homogenous nature. They are almost wholly made of serpentine with occasional relics of pyroxene. Secondary carbonate mineral is often noticed. Their higher MgO content indicates Mg-rich ultramafic magmatism during Archaean orogeny.展开更多
Thrombotic thrombocytopenia purpura(TTP) was fi rst described in 1924 as a "pathologic alteration of the microvasculature, with detachment or swelling of the endothelium, amorphous material in the sub-endothelial...Thrombotic thrombocytopenia purpura(TTP) was fi rst described in 1924 as a "pathologic alteration of the microvasculature, with detachment or swelling of the endothelium, amorphous material in the sub-endothelial space, and luminal platelet aggregation leading to compromise of the microcirculation". Ticlopidine induced TTP has been highly associated with autoimmune induced reduction in ADAMTS-13 activity. These findings, to a lesser extent, have also been found in clopidogrel induced TTP. We report a case of clopidogrel associated TTP in a patient that presented with acute stroke, renal failure, and non-ST elevation myocardial infarction.展开更多
文摘新生儿PURA综合征是一种罕见的常染色体显性遗传病,临床表现缺乏特异性。本文收集1例患儿的临床及实验室检查资料,利用Illumina二代测序平台,使用xGen®Exome Research Panel杂交捕获人类全部基因的外显子区及相邻内含子区域,应用高通量测序仪进行测序,最后进行Sanger验证。发现5号染色体PURA基因的1号外显子存在一个自发的整码杂合变异c.697_699del(p.F233del),根据美国医学遗传学与基因组学学会标准,为致病性整码突变。经检索多个数据库报道罕见,进一步丰富了本病的数据库,拓宽临床医师对于自发基因突变疾病的诊断思路。
文摘The Jayachamarajapura schist belt in western Dharwar craton, southern India, is predominantly an ultramafics dominant terrain. These rocks have been extensively metamorphosed and altered to serpentinite. The komatiite nature of ultramafics is conspicuous. In most of the areas of the belt these ultramafics are massive in nature. However, some of the ultramafic units show layered nature. But, their outcrops are encompassed within the massive komatiitic bodies. These komatiitic ultramafics are predominantly Mg-rich in nature. The layered rocks are also Mg-rich, and their field setting and geochemistry suggest their intermittent occurrence as sills, during the differentiation of peridotitic magma. The layered rocks, which have been intensely serpentinisation show homogenous nature. They are almost wholly made of serpentine with occasional relics of pyroxene. Secondary carbonate mineral is often noticed. Their higher MgO content indicates Mg-rich ultramafic magmatism during Archaean orogeny.
基金Supported by The "East Carolina Heart Institute"
文摘Thrombotic thrombocytopenia purpura(TTP) was fi rst described in 1924 as a "pathologic alteration of the microvasculature, with detachment or swelling of the endothelium, amorphous material in the sub-endothelial space, and luminal platelet aggregation leading to compromise of the microcirculation". Ticlopidine induced TTP has been highly associated with autoimmune induced reduction in ADAMTS-13 activity. These findings, to a lesser extent, have also been found in clopidogrel induced TTP. We report a case of clopidogrel associated TTP in a patient that presented with acute stroke, renal failure, and non-ST elevation myocardial infarction.
