[洛伦佐的油和肾上腺脑白质萎缩症检查用于进行文献检索和分析的人工智能工具]。

Harefuah Pub Date : 2024-12-01
Or Degany, Michal Meir, Sharon Einav
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引用次数: 0

摘要

简介:肾上腺脑白质营养不良是一种以异质性表型为特征的遗传代谢疾病。其严重的形式,被称为脑肾上腺白质营养不良,包括不可预测的脑损伤和进行性中枢神经系统恶化。这种罕见的疾病之所以出名,是因为在一部好莱坞电影中,一个患有这种疾病的孩子的意大利父母据说发现了一种治疗这种疾病的药物。但是现实生活并不像电影那样,造血干细胞移植仍然是在疾病早期诊断的患者的标准治疗方法。这篇文章描述了一个在疾病晚期被诊断为脑肾上腺白质营养不良的病人。文献检索旨在确定防止进一步恶化的治疗方法,建议采用基于自体造血干细胞的基因治疗和代谢治疗。Consensus是一个基于聊天gpt的人工智能工具,经过数百万份科学出版物的培训,旨在进行循证文献搜索和分析。本案例采用共识法进行平行文献综述。虽然生成的输出不包含幻觉(这是其他大型语言模型经常出现的问题),但所选文章的质量及其在特定情况下的解释不如经验丰富的研究人员或医生所达到的水平。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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[LORENZO'S OIL AND ADRENOLEUKODYSTROPHY EXAMINING AN ARTIFICIAL INTELLIGENCE TOOL INTENDED FOR CONDUCTING LITERATURE SEARCHES AND ANALYSES].

Introduction: Adrenoleukodystrophy is a genetic metabolic disorder characterized by a heterogeneous phenotype. Its severe form, known as cerebral adrenoleukodystrophy, involves unpredictable cerebral damage and progressive central nervous system deterioration. This rare condition became famous because of a Hollywood movie in which the Italian parents of a child with the condition supposedly discovered a medication for treating the condition. But real life does not emulate movies and hematopoietic stem cell transplantation remains the standard of care for patients diagnosed at an early disease stage. This article describes a patient with cerebral adrenoleukodystrophy diagnosed at an advanced disease stage. The literature search aimed to identify therapies to prevent further deterioration suggested autologous hematopoietic stem cell-based gene therapy and metabolic therapies. Consensus is a Chat GPT-based AI tool trained on millions of scientific publications, intended for conducting evidence-based literature searches and analyses. The case presented was used to conduct a parallel literature review using Consensus. While the generated output contained no hallucinations (a problem often seen with other large language models), the quality of the selected articles and their interpretation in the context of the specific case fell short of that achieved by experienced researchers or physicians.

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