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新生儿严重甲状旁腺功能亢进症:基因型/表现型间相关性和应用pamidronate作为抢救措施
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作者 Waller S. Kurzawinski T. +2 位作者 spitz l. W.G.Van’t Hoff 高蕊 《世界核心医学期刊文摘(儿科学分册)》 2005年第3期31-31,共1页
家族性低尿钙性高钙血症(FHH)是一种常染色体显性遗传性疾病。该病因钙敏感受体(CaSR)的基因发生杂合性突变引起。而在那些CaSR的基因纯合性突变的患儿则会罹患新生儿严重甲状旁腺功能亢进(NSHPT)症。与相对良性且无症状的:FHH不同,NSH... 家族性低尿钙性高钙血症(FHH)是一种常染色体显性遗传性疾病。该病因钙敏感受体(CaSR)的基因发生杂合性突变引起。而在那些CaSR的基因纯合性突变的患儿则会罹患新生儿严重甲状旁腺功能亢进(NSHPT)症。与相对良性且无症状的:FHH不同,NSHPT 者如果不进行甲状旁腺切除则有生命危险。笔者报道了3例NSHPT病例。 展开更多
关键词 PAMIDRONATE 高钙血症 甲状旁腺切除 钙敏感受体 生命危险 表现型 纯合性 无症状 杂合性 遗传性疾病
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新生儿巨大脐突的分期修补
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作者 Pacilli M. spitz l. +2 位作者 Kiely E.M. A. Pierro 杨周岐 《世界核心医学期刊文摘(儿科学分册)》 2005年第11期52-53,共2页
Background/Purpose: The aim of this study was to analyze the outcome of giant omphalocele repaired in the neonatal period. Methods: Twelve consecutive (1997-2004)-neonates with giant omphalocele (defect >6 cm with ... Background/Purpose: The aim of this study was to analyze the outcome of giant omphalocele repaired in the neonatal period. Methods: Twelve consecutive (1997-2004)-neonates with giant omphalocele (defect >6 cm with liver herniation) were reviewed. A silo of Prolene mesh (Ethicon) was attached to the fascia and the defect was closed without opening the amniotic sac after sequential reduction. In 2 neonates with ruptured omphalocele a plastic sheet was inserted below the mesh. Data are reported as median and range. Results: Gestational age was 38 weeks (range, 32-40 weeks) and birth weight was 2.9 kg (range, 1.0-3.1 kg). The final closure was achieved at 26 days (range, 16-62 days). Three neonates (25%) died before fi-nal closure (causes: ruptured omphalocele, lung hypoplasia, cardiac anomalies, and intestinal failure). In the 9 surviving neonates, mechanical ventilation was required for 8 days (range, 2-20 days), hospital stay was 42 days (range, 23-73 days), and full enteral feeding was achieved on day 12 (range, 4-53 days). Complications included wound infection in 5 neonates and midgut volvulus in 1. Prophylactic Ladd’s procedure was performed laparoscopically at a later stage in 4 children. At laparoscopy, intraperitoneal adhesions were minimal and the central liver did not preclude the operation. The 9 survivors are all well after 46 months (range, 12-67 months). Conclusions: Giant omphalocele can be safely repaired in the neonatal period without opening the amniotic sac. Intestinal malrotation should be excluded and Ladd’s procedure can be performed laparoscopically at a later stage. 展开更多
关键词 脐突 肠旋转不良 中肠扭转 腹壁缺损 羊膜囊 肺发育不良 腹腔镜手术 肝中叶 疾病后期 肠功能
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