In generalized arterial calcification of infancy(OMIM no.208000),calcificat ion of the media and proliferation of the intima lead to arterial stenoses.Most affected patients present with untreatable arterial hypertens...In generalized arterial calcification of infancy(OMIM no.208000),calcificat ion of the media and proliferation of the intima lead to arterial stenoses.Most affected patients present with untreatable arterial hypertension and die within the first months of life.The disease has recently been linked to mutations in ENPP1.We report two siblings with prolonged survival,both of whom carry the co mpound heterozygous ENPP1 mutations C.913C > A and c.1164+2T > A.In both sibli ngs,spontaneous regression of arterial calcifications occurred,and antihyperte nsive treatment could be tapered off gradually.In some patients,the natural co urse of GACI may be more favourable than previously assumed.展开更多
临床研究证实,抗-遗传型Mab能有效治疗致命性肿瘤黑素瘤。在第Ⅱ阶段的临床试验中,研究者发现Mab MK2-23诱导免疫性并使第Ⅳ期黑素瘤患者中60％延长存活期。除ImClone Systems Inc.发展的抗-idMab外,其它Mab模拟抗原不是特别致免疫的。...临床研究证实,抗-遗传型Mab能有效治疗致命性肿瘤黑素瘤。在第Ⅱ阶段的临床试验中,研究者发现Mab MK2-23诱导免疫性并使第Ⅳ期黑素瘤患者中60％延长存活期。除ImClone Systems Inc.发展的抗-idMab外,其它Mab模拟抗原不是特别致免疫的。而MKα-23模拟存在于80～85％黑素瘤细胞上的膜蛋白的高分子量黑素瘤抗体。给予的抗体尚不能消除肿瘤。展开更多
文摘In generalized arterial calcification of infancy(OMIM no.208000),calcificat ion of the media and proliferation of the intima lead to arterial stenoses.Most affected patients present with untreatable arterial hypertension and die within the first months of life.The disease has recently been linked to mutations in ENPP1.We report two siblings with prolonged survival,both of whom carry the co mpound heterozygous ENPP1 mutations C.913C > A and c.1164+2T > A.In both sibli ngs,spontaneous regression of arterial calcifications occurred,and antihyperte nsive treatment could be tapered off gradually.In some patients,the natural co urse of GACI may be more favourable than previously assumed.
文摘临床研究证实,抗-遗传型Mab能有效治疗致命性肿瘤黑素瘤。在第Ⅱ阶段的临床试验中,研究者发现Mab MK2-23诱导免疫性并使第Ⅳ期黑素瘤患者中60％延长存活期。除ImClone Systems Inc.发展的抗-idMab外,其它Mab模拟抗原不是特别致免疫的。而MKα-23模拟存在于80～85％黑素瘤细胞上的膜蛋白的高分子量黑素瘤抗体。给予的抗体尚不能消除肿瘤。
