坏血病:罕见疾病还是罕见诊断?

IF 17.7 1区 化学 Q1 CHEMISTRY, MULTIDISCIPLINARY Accounts of Chemical Research Pub Date : 2024-02-28 DOI:10.4103/jets.jets_108_23
D. Gaieski
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引用次数: 0

摘要

坏血病是一种由缺乏抗坏血酸引起的疾病,曾经是一种极为常见的疾病,但在后现代社会中,这种疾病现在被认为是一种罕见疾病。医生并没有接受过将坏血病作为高危患者的可能诊断的培训;相反,为了完整起见,坏血病被认为是一种罕见的诊断,需要添加到鉴别诊断中。 我们试图描述一位医生在繁忙的急诊医学学术生涯中接诊的坏血病患者。1993 年至 2023 年期间,一位医生在美国中东部五家设有急诊科 (ED) 的学术教学医院接诊的患者病例系列。文中描述了每位患者的症状和体征、已知坏血病风险因素、维生素 C 水平、临床过程和治疗结果。 1993 年至 2023 年间,12 名被诊断患有坏血病的患者在急诊室接受了 14 次初步评估。每位患者都有维生素 C 摄入不足的已知风险因素。所有患者都有提示坏血病的临床表现,除一人外,其他所有患者在急诊室采集的血清样本中都检测到血清维生素 C 含量低于正常水平。 一位医生在长达三十年的时间里发现了 12 例坏血病病例,这凸显了对高危人群进行坏血病筛查的重要性,并提出了坏血病不是一种罕见疾病,而是一种罕见诊断的假设。这一研究假设应在进一步的研究中进行调查。
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Scurvy: A Rare Disease or a Rare Diagnosis?
Scurvy, the disease state caused by ascorbic acid deficiency, was once an extremely common disease but is now thought to be a rare disease in postmodern societies. Physicians are not trained to consider scurvy as a possible diagnosis in patients at risk; rather, it is considered a rare diagnosis to add to a differential for completeness’s sake. We sought to describe the scorbutic patients seen by one physician during a busy academic emergency medicine career. Case series of patients seen by one physician between 1993 and 2023 at five academic teaching hospitals with Emergency Departments (EDs) in the mid-Eastern United States. Presenting signs and symptoms, known scurvy risk factors, Vitamin C levels, clinical course, and outcome for each patient are described. There were 14 presentations by 12 patients diagnosed with scurvy who were initially evaluated in the ED between 1993 and 2023. Each patient had a known risk factor for inadequate Vitamin C intake. All had clinical findings suggestive of scurvy and all but one had a subnormal serum Vitamin C level detected on serum samples sent from the ED. The detection of 12 cases of scurvy by one physician over a three-decade period highlights the importance of screening for scurvy in at-risk populations and generates the hypothesis that scurvy is not a rare disease but rather a rare diagnosis. This research hypothesis should be investigated in further studies.
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来源期刊
Accounts of Chemical Research
Accounts of Chemical Research 化学-化学综合
CiteScore
31.40
自引率
1.10%
发文量
312
审稿时长
2 months
期刊介绍: Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.
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