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Taste and smell function in Wolfram syndrome.

Wolfram 综合征的味觉和嗅觉功能。

  • 影响因子:4.06
  • DOI:10.1186/s13023-020-1335-7
  • 作者列表:"Alfaro R","Doty T","Narayanan A","Lugar H","Hershey T","Pepino MY
  • 发表时间:2020-02-22
Abstract

BACKGROUND:Wolfram syndrome is a rare genetic disease characterized by insulin-dependent diabetes, optic nerve atrophy, sensorineural hearing loss and neurodegeneration. Although olfactory dysfunction, a classical clinical marker of neurodegenerative processes, has been reported in Wolfram syndrome, its use as a clinical marker in Wolfram is limited due to data scarcity. In addition, it is unknown whether Wolfram syndrome affects the sense of taste. METHODS:Smell and taste perception were assessed in participants with Wolfram syndrome (n = 40) who were 15.1 ± 6.0 years of age (range: 5.1-28.7 years) and two sex- and age-matched control groups: one group with type 1 diabetes mellitus (T1D; n = 25) and a healthy control group (HC; n = 29). Smell sensitivity was assessed by measuring n-butanol detection thresholds and smell identification by using the University of Pennsylvania Smell Identification Test (UPSIT). Taste function was assessed using NIH Toolbox, which includes the assessment of sucrose (sweet) taste preference, and perceived intensity of sucrose, sodium chloride (salty), and quinine hydrochloride (bitter) both in the tip of the tongue (regional test) and the whole mouth. RESULTS:Smell sensitivity was not significantly different among groups; however, smell identification was impaired in Wolfram syndrome, as reflected by significantly lower UPSIT scores in Wolfram syndrome compared to HC and T1D (P < 0.001). Compared to participants in the control groups, participants with Wolfram syndrome had a blunted perception of sweetness and saltiness when taste stimuli were applied regionally (P < 0.05), but differences in perceived intensity were no longer significant among groups when taste stimuli were tasted with the whole mouth. Groups preferred similar sucrose concentrations. CONCLUSION:Wolfram syndrome was associated with olfactory dysfunction. However, the olfactory dysfunction was qualitative (related to smell identification) and not secondary to olfactory insensitivity or diabetes, suggesting is arising from dysfunction in central olfactory brain regions. In contrast to olfaction, and despite decreased perception of taste intensity in the anterior tongue, the sense of taste was overall well-conserved in individuals with Wolfram syndrome. Future longitudinal studies of taste and smell perception in Wolfram syndrome will be important to determine the use of the chemical senses as clinical markers of disease progression.

摘要

背景: Wolfram 综合征是一种罕见的遗传性疾病,以胰岛素依赖型糖尿病、视神经萎缩、感音神经性聋和神经退行性病变为特征。虽然 Wolfram 综合征报道了嗅觉障碍,一种神经退行性疾病的经典临床标志物,但由于数据稀缺,其作为 Wolfram 临床标志物的使用受到限制。此外,还不知道 Wolfram 综合征是否会影响味觉。 方法: 在年龄为 15.1 ± 6.0 岁 (范围: 5.1-28.7 岁) 的 Wolfram 综合征 (n = 40) 参与者中评估嗅觉和味觉和两个性别和年龄匹配的对照组: 1 组 1 型糖尿病 (T1D; n = 25) 和健康对照组 (HC; n = 29)。通过测量正丁醇检测阈值和使用宾夕法尼亚大学气味鉴定试验 (UPSIT) 进行气味敏感性评估。使用 NIH 工具箱评估味觉功能,包括评估蔗糖 (甜) 味觉偏好,以及蔗糖、氯化钠 (咸) 和盐酸奎宁 (苦) 的感知强度无论是在舌尖 (区域测试) 和整个口。 结果: 各组间嗅觉敏感性无显著差异; 然而,Wolfram 综合征的嗅觉识别受损,表现为 Wolfram 综合征的 UPSIT 评分显著低于 HC 和 T1D (p

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关键词: 暂无
翻译标题与摘要 下载文献
影响因子:19.14
发表时间:2020-01-01
来源期刊:Nature Medicine
DOI:10.1038/s41591-019-0724-8
作者列表:["Artzi, Nitzan Shalom","Shilo, Smadar","Hadar, Eran","Rossman, Hagai","Barbash-Hazan, Shiri","Ben-Haroush, Avi","Balicer, Ran D.","Feldman, Becca","Wiznitzer, Arnon","Segal, Eran"]

METHODS:Leveraging the availability of nationwide electronic health records from over 500,000 pregnancies in Israel, a machine-learning approach offers an alternative means of predicting gestational diabetes at high accuracy in the early stages of pregnancy. Gestational diabetes mellitus (GDM) poses increased risk of short- and long-term complications for mother and offspring^ 1 – 4 . GDM is typically diagnosed at 24–28 weeks of gestation, but earlier detection is desirable as this may prevent or considerably reduce the risk of adverse pregnancy outcomes^ 5 , 6 . Here we used a machine-learning approach to predict GDM on retrospective data of 588,622 pregnancies in Israel for which comprehensive electronic health records were available. Our models predict GDM with high accuracy even at pregnancy initiation (area under the receiver operating curve (auROC) = 0.85), substantially outperforming a baseline risk score (auROC = 0.68). We validated our results on both a future validation set and a geographical validation set from the most populated city in Israel, Jerusalem, thereby emulating real-world performance. Interrogating our model, we uncovered previously unreported risk factors, including results of previous pregnancy glucose challenge tests. Finally, we devised a simpler model based on just nine questions that a patient could answer, with only a modest reduction in accuracy (auROC = 0.80). Overall, our models may allow early-stage intervention in high-risk women, as well as a cost-effective screening approach that could avoid the need for glucose tolerance tests by identifying low-risk women. Future prospective studies and studies on additional populations are needed to assess the real-world clinical utility of the model.

关键词: 暂无
翻译标题与摘要 下载文献
影响因子:4.34
发表时间:2020-01-27
DOI:10.1128/AAC.01777-19
作者列表:["Lowes DJ","Hevener KE","Peters BM"]

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