Charcot-Marie-Tooth disease (CMT) affects the peripheral nervous system. It is generally inherited in an autosomal dominant pattern, but also is inherited in recessive or an X-linked pattern. The degree of severity ca...Charcot-Marie-Tooth disease (CMT) affects the peripheral nervous system. It is generally inherited in an autosomal dominant pattern, but also is inherited in recessive or an X-linked pattern. The degree of severity can vary greatly from patient to patient, even within the same family. Traditionally, the different classes of CMT have been divided into demyelinating forms and axonal forms. Until 10 years ago, the genetic basis of CMT disease was largely unknown. An intrachromosomal duplication on chromosome 17 was found in 1991, and a point mutation in the peripheral myelin protein-22 gene was discovered in 1992. The work starts a new stage of the molecular basis of this large group of peripheral neuropathies. In this review, we will summarize what is known today about the genetics of CMT, and what we have learned about the underlying disease mechanisms.展开更多
Laminopathies are genetic diseases that encompass a wide spectrum of phenotypes with diverse tissue pathologies and result mainly from mutations in the LMNA gene encoding nuclear lamin A/C. To date, at least 9 differe...Laminopathies are genetic diseases that encompass a wide spectrum of phenotypes with diverse tissue pathologies and result mainly from mutations in the LMNA gene encoding nuclear lamin A/C. To date, at least 9 different human diseases, which superficially seem to share little with one another, result from LMNA mutations. The position of the mutation within LMNA appears to be associated with the phenotypes. This review gives an overview of genotype-phenotype relationship and describes recent advances in animal models and pathogenic mechanisms.展开更多
目的 探讨英国国家早期预警评分（national early warning score, NEWS）、改良早期预警评分（modified early warning score，MEWS）和急诊脓毒症死亡风险评分（mortality in emergency department sepsis score，MEDS）对急诊感染患...目的 探讨英国国家早期预警评分（national early warning score, NEWS）、改良早期预警评分（modified early warning score，MEWS）和急诊脓毒症死亡风险评分（mortality in emergency department sepsis score，MEDS）对急诊感染患者预后的评估价值，并探究新的评分方法。 方法 回顾性分析2016-01～2016-08就诊于清华大学附属北京清华长庚医院急诊科的215例感染患者，记录性别、年龄、既往基础疾病、就诊时生命体征、感染部位及相关实验室检验，分别进行NEWS、MEWS和MEDS，以进入研究后28 d生存情况分为死亡组与存活组，分析两组间各评分差异。为探究新的评分方法，进一步应用Logistic回归分析评估各因素与28 d预后的关系，并最终获得拟合方程。应用受试者工作特征曲线（ROC曲线）比较各评分系统及拟合方程对28 d预后的预测能力。结果 215例急性感染患者28 d 病死率为14.88%。死亡组NEWS、MEWS和MEDS均高于存活组。单因素Logistic回归分析显示，年龄、恶性肿瘤病史、心率、呼吸频率、收缩压、血氧饱和度（SpO2）、血小板、红细胞压积、血肌酐（serum creatinine, Scr）、肾小球滤过率（estimated glomerular filtration rate, eGFR）是28 d死亡的预测因素（P＜0.05）。NEWS、MEWS、MEDS和联合多变量建立的拟合方程对28 d死亡预测的ROC曲线下面积分别为0.881、0.757、0.935和0.954。NEWS与MEDS比较差异无统计学意义（P＞0.05），与MEWS比较差异有统计学意义（P＜0.01）。联合多变量后建立的拟合方程敏感度最佳，曲线下面积最大，优于MEWS（P＜0.01）及NEWS（P＜0.05）。结论 MEDS的预测能力同NEWS能力相当，优于MEWS。联合MEDS与心率、Scr获得的拟合方程的预测能力更优于NEWS和MEWS。展开更多
文摘Charcot-Marie-Tooth disease (CMT) affects the peripheral nervous system. It is generally inherited in an autosomal dominant pattern, but also is inherited in recessive or an X-linked pattern. The degree of severity can vary greatly from patient to patient, even within the same family. Traditionally, the different classes of CMT have been divided into demyelinating forms and axonal forms. Until 10 years ago, the genetic basis of CMT disease was largely unknown. An intrachromosomal duplication on chromosome 17 was found in 1991, and a point mutation in the peripheral myelin protein-22 gene was discovered in 1992. The work starts a new stage of the molecular basis of this large group of peripheral neuropathies. In this review, we will summarize what is known today about the genetics of CMT, and what we have learned about the underlying disease mechanisms.
文摘Laminopathies are genetic diseases that encompass a wide spectrum of phenotypes with diverse tissue pathologies and result mainly from mutations in the LMNA gene encoding nuclear lamin A/C. To date, at least 9 different human diseases, which superficially seem to share little with one another, result from LMNA mutations. The position of the mutation within LMNA appears to be associated with the phenotypes. This review gives an overview of genotype-phenotype relationship and describes recent advances in animal models and pathogenic mechanisms.
