新生儿重症甲状旁腺功能亢进症是一种罕见的危及生命的疾病,在新生儿期表现为严重的高钙血症、甲状旁腺功能亢进和骨质减少。患儿,女,14日龄,生后4天起病,表现为高胆红素血症、纳差、反应差、肌张力低下,严重的高钙血症和甲状旁腺功能...新生儿重症甲状旁腺功能亢进症是一种罕见的危及生命的疾病,在新生儿期表现为严重的高钙血症、甲状旁腺功能亢进和骨质减少。患儿,女,14日龄,生后4天起病,表现为高胆红素血症、纳差、反应差、肌张力低下,严重的高钙血症和甲状旁腺功能亢进。基因检测显示,CASR基因存在未报道过的c.888C > A (p.Ser296Arg)(来源于父亲)、c.1576G > T (p.Glu526Ter)(来源于母亲)复合杂合变异。患儿经多次唑来膦酸静脉滴注,吸吮力、反应及肌张力有好转,血钙开始明显下降但一周后又升高。生后54天患儿行一侧甲状旁腺切除术,血钙有所下降,于生后64天出院。生后17月随访,患儿体格和神经发育迟缓。NSHPT由CASR基因失活变异引起,表现为严重的高钙血症和甲状旁腺功能亢进,伴生长发育迟缓。甲状旁腺全切除术是首选治疗手段,双膦酸盐可能具有一定的疗效。展开更多
Background:To investigate the mechanism of Xuefu Zhuyu decoction in the treatment of diabetes mellitus erectile dysfunction.Methods:Rats with diabetes mellitus erectile dysfunction were developed using streptozocin an...Background:To investigate the mechanism of Xuefu Zhuyu decoction in the treatment of diabetes mellitus erectile dysfunction.Methods:Rats with diabetes mellitus erectile dysfunction were developed using streptozocin and randomly assigned into model,low-dose herbal,and high-dose herbal groups.All rats were administered normal saline or the corresponding drugs by oral gavage for 4 weeks.The related indices were detected using enzyme-linked immunosorbent assays,immunohistochemistry,western blotting,and transmission electron microscopy.Results:The levels of lectin-like oxidized low-density protein receptor-1,endothelin-1,NADH oxidase,vascular cell adhesion molecule-1,and intercellular adhesion molecule-1 in the model group were significantly higher than they were in the mock group but lower than they were in the herbal treatment group.The level of nitric oxide was lower in the model group than was in the mock group but higher than the level in the herbal treatment group.The calcium-sensitive receptor,phospho-protein kinase Cδ/protein kinase Cδ,phosphorylated c-Jun amino-terminal kinase/c-Jun amino-terminal kinase,and phospho-P38 mitogen-activated protein kinase/P38 mitogen-activated protein kinase expression levels in the model group were higher than were in the mock group but lower than were in the herbal treatment group.The structures of the Corpus cavernosum penis endothelial cells were significantly improved in the herbal treatment group than they did in the model group.Conclusion:Xuefu Zhuyu decoction can decrease injury to the endothelium,improve vascular endothelial diastolic and contractive function,and inhibit vascular fibrosis in rats with diabetes mellitus erectile dysfunction.This mechanism may be related to the CaSR/Gq-PLC-PKC pathway.展开更多
文摘新生儿重症甲状旁腺功能亢进症是一种罕见的危及生命的疾病,在新生儿期表现为严重的高钙血症、甲状旁腺功能亢进和骨质减少。患儿,女,14日龄,生后4天起病,表现为高胆红素血症、纳差、反应差、肌张力低下,严重的高钙血症和甲状旁腺功能亢进。基因检测显示,CASR基因存在未报道过的c.888C > A (p.Ser296Arg)(来源于父亲)、c.1576G > T (p.Glu526Ter)(来源于母亲)复合杂合变异。患儿经多次唑来膦酸静脉滴注,吸吮力、反应及肌张力有好转,血钙开始明显下降但一周后又升高。生后54天患儿行一侧甲状旁腺切除术,血钙有所下降,于生后64天出院。生后17月随访,患儿体格和神经发育迟缓。NSHPT由CASR基因失活变异引起,表现为严重的高钙血症和甲状旁腺功能亢进,伴生长发育迟缓。甲状旁腺全切除术是首选治疗手段,双膦酸盐可能具有一定的疗效。
基金supported by Fujian Provincial Natural Science Foundation Project(2020J01243).
文摘Background:To investigate the mechanism of Xuefu Zhuyu decoction in the treatment of diabetes mellitus erectile dysfunction.Methods:Rats with diabetes mellitus erectile dysfunction were developed using streptozocin and randomly assigned into model,low-dose herbal,and high-dose herbal groups.All rats were administered normal saline or the corresponding drugs by oral gavage for 4 weeks.The related indices were detected using enzyme-linked immunosorbent assays,immunohistochemistry,western blotting,and transmission electron microscopy.Results:The levels of lectin-like oxidized low-density protein receptor-1,endothelin-1,NADH oxidase,vascular cell adhesion molecule-1,and intercellular adhesion molecule-1 in the model group were significantly higher than they were in the mock group but lower than they were in the herbal treatment group.The level of nitric oxide was lower in the model group than was in the mock group but higher than the level in the herbal treatment group.The calcium-sensitive receptor,phospho-protein kinase Cδ/protein kinase Cδ,phosphorylated c-Jun amino-terminal kinase/c-Jun amino-terminal kinase,and phospho-P38 mitogen-activated protein kinase/P38 mitogen-activated protein kinase expression levels in the model group were higher than were in the mock group but lower than were in the herbal treatment group.The structures of the Corpus cavernosum penis endothelial cells were significantly improved in the herbal treatment group than they did in the model group.Conclusion:Xuefu Zhuyu decoction can decrease injury to the endothelium,improve vascular endothelial diastolic and contractive function,and inhibit vascular fibrosis in rats with diabetes mellitus erectile dysfunction.This mechanism may be related to the CaSR/Gq-PLC-PKC pathway.
