...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Journal of neurology >Identifying Niemann-Pick type C in early-onset ataxia: two quick clinical screening tools
【24h】

Identifying Niemann-Pick type C in early-onset ataxia: two quick clinical screening tools

机译：识别早发性共济失调的尼曼匹克C型：两种快速的临床筛查工具

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Niemann-Pick disease type C (NP-C) is a rare multisystemic lysosomal disorder which, albeit treatable, is still starkly underdiagnosed. As NP-C features early onset ataxia (EOA) in 85-90 % of cases, EOA presents a promising target group for undiagnosed NP-C patients. Here, we assessed the ability of the previously established NP-C suspicion index (SI) and a novel abbreviated '2/3 SI' tool for rapid appraisal of suspected NP-C in unexplained EOA. This was a retrospective observational study comparing 'NP-C EOA' cases (EOA patients with confirmed NP-C) with non-NP-C EOA controls (EOA patients negative for NP-C gene mutations). NP-C risk prediction scores (RPS) from both the original and 2/3 SIs were calculated and their discriminatory performance evaluated. Among 133 patients (47 NP-C EOA cases; 86 non-NP-C EOA controls), moderate (40-69 points) and high (aeyen70 points) RPS were common based on original SI assessments in non-NP-C EOA controls [16 (19 %) and 8 (9 %), respectively], but scores aeyen70 points were far more frequent [46 (98 %)] among NP-C EOA cases. RPS cut-off values provided 98 % sensitivity and 91 % specificity for NP-C at 70-point cut-off, and ROC analysis revealed an AUC of 0.982. Using the 2/3 SI, 90 % of NP-C EOA cases had scores of 2 or 3, and RPS analysis showed an AUC of 0.961. In conclusion, the NP-C SI and the new, quick-to-apply 2/3 SI distinguished well between NP-C and non-NP-C patients, even in EOA populations with high background levels of broadly NPC-compatible multisystemic disease features. While the original SI showed the greatest sensitivity, both tools reliably aided identification of patients with unexplained EOA who warranted further investigation for NP-C.
机译：尼曼-匹克病C型（NP-C）是一种罕见的多系统溶酶体疾病，尽管可以治疗，但仍未得到充分诊断。由于NP-C在85-90％的病例中具有早期发作的共济失调（EOA），因此EOA为未诊断的NP-C患者提供了一个有希望的目标人群。在这里，我们评估了先前建立的NP-C怀疑指数（SI）的能力，以及一种新型的“ 2/3 SI”缩写工具，用于快速评估无法解释的EOA中的可疑NP-C。这是一项回顾性观察性研究，将“ NP-C EOA”病例（确诊为NP-C的EOA患者）与非NP-C EOA对照（对于NP-C基因突变为阴性的EOA患者）进行了比较。计算原始SI和2/3 SI的NP-C风险预测得分（RPS），并评估其区分性能。在133例患者（47例NP-C EOA病例; 86例非NP-C EOA对照）中，根据非NP-C EOA对照的原始SI评估，中度（40-69分）和高（aeyen70分）RPS常见[分别为16（19％）和8（9％）]，但在NP-C EOA病例中，aeyen70分的得分更为频繁[46（98％）]。 RPS临界值在70点临界值下为NP-C提供了98％的灵敏度和91％的特异性，ROC分析显示AUC为0.982。使用2/3 SI，有90％的NP-C EOA病例得分为2或3，RPS分析显示AUC为0.961。总之，NP-C SI和新的快速应用的2/3 SI在NP-C和非NP-C患者之间有很好的区别，即使在背景水平高且广泛与NPC兼容的多系统疾病的EOA人群中也是如此特征。虽然最初的SI表现出最大的敏感性，但是这两种工具都能可靠地帮助鉴定原因不明的EOA患者，因此有必要对NP-C进行进一步研究。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号