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基于知识的枫糖尿症儿科患者营养素膳食摄入建议

Knowledge-Based Dietary Intake Recommendations of Nutrients for Pediatric Patients with Maple Syrup Urine Disease.

作者信息

Alrige Mayda, Banjar Haneen, Shuaib Taghreed, Ahmed Amal, Gharbawi Raghad

机构信息

Information Systems Department, Faculty of Computing and Information Technology, King Abdulaziz University, Jeddah 21577, Saudi Arabia.

Computer Science Department, Faculty of Computing and Information Technology, King Abdulaziz University, Jeddah 21577, Saudi Arabia.

出版信息

Healthcare (Basel). 2023 Jan 18;11(3):301. doi: 10.3390/healthcare11030301.

DOI:10.3390/healthcare11030301
PMID:36766876
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9914112/
Abstract

Maple syrup urine disease (MSUD) is a metabolic disorder characterized by a difficulty to digest and process proteins necessary for growth. To monitor and maintain the ideal growth of children with MSUD, caregivers need to carefully control the consumption of harmful branched-chain amino acids (BCAAs). The dietary limits of amino acids for MSUD patients are recommended and controlled by pediatricians and metabolic dietitians according to age, height, weight, and the prevailing percentage of amino acids in the body. This study introduces an intelligent dietary tool called MSUD Baby Buddy for caregivers of MSUD patients that tracks the amino acids intake out of baby formulas for babies 0-6 months old. This tool aims to provide accurate recommendations of the appropriate daily intake of protein and BCAAs based on the patients' data, plasma BCAAs, and formula preferences. We use a knowledge-based system, including knowledge acquisition and verification, as well as knowledge management tool validation, and the ripple-down rules are employed for building the system. MSUD Baby Buddy can support the maintenance of adequate amino acid levels and increase awareness about the control of BCAAs. The average usability of MSUD Baby Buddy is 84.25, indicating that the tool is intuitive and may help caregivers to easily determine the recommended doses of formula based on patients' biometric data and preferred formula. On the other hand, interviews with metabolic dietitians revealed some drawbacks, which were addressed to further improve the tool. MSUD Baby Buddy is expected to help caregivers of MSUD patients to independently track nutrient intake and reduce the number of visits to the pediatrician and metabolic dietitian.

摘要

枫糖尿症(MSUD)是一种代谢紊乱疾病,其特征是难以消化和处理生长所需的蛋白质。为了监测和维持MSUD患儿的理想生长状态,护理人员需要仔细控制有害支链氨基酸(BCAAs)的摄入量。MSUD患者的氨基酸饮食限制由儿科医生和代谢营养师根据年龄、身高、体重以及体内氨基酸的现有比例进行推荐和控制。本研究为MSUD患者的护理人员引入了一种名为MSUD Baby Buddy的智能饮食工具,该工具可追踪0至6个月婴儿配方奶粉中的氨基酸摄入量。此工具旨在根据患者数据、血浆BCAAs和配方奶粉偏好,提供蛋白质和BCAAs每日适当摄入量的准确建议。我们使用了一个基于知识的系统,包括知识获取与验证以及知识管理工具验证,并采用了递推规则来构建该系统。MSUD Baby Buddy可以支持维持足够的氨基酸水平,并提高对BCAAs控制的认识。MSUD Baby Buddy的平均可用性为84.25,这表明该工具直观易用,可能有助于护理人员根据患者的生物特征数据和偏好的配方奶粉轻松确定推荐的配方奶粉剂量。另一方面,对代谢营养师的访谈揭示了一些缺点,针对这些缺点进行了改进以进一步完善该工具。预计MSUD Baby Buddy将帮助MSUD患者的护理人员独立追踪营养摄入情况,并减少去看儿科医生和代谢营养师的次数。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4481/9914112/cad7d86b78e7/healthcare-11-00301-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4481/9914112/26e0e67c5384/healthcare-11-00301-g001.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4481/9914112/cad7d86b78e7/healthcare-11-00301-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4481/9914112/26e0e67c5384/healthcare-11-00301-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4481/9914112/921c1627f965/healthcare-11-00301-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4481/9914112/aa04752949e5/healthcare-11-00301-g003.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4481/9914112/cad7d86b78e7/healthcare-11-00301-g005.jpg

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Endocr Metab Immune Disord Drug Targets. 2021;21(4):592-616. doi: 10.2174/1871530321666201223110918.
2
Examining Diabetes Management Apps Recommended From a Google Search: Content Analysis.从谷歌搜索推荐的糖尿病管理应用程序中进行评估:内容分析。
JMIR Mhealth Uhealth. 2019 Jan 16;7(1):e11848. doi: 10.2196/11848.
3
Difficulties in Daily Life and Associated Factors, and QoL of Children with Inherited Metabolic Disease and Their Parents in Japan: A Literature Review.
日本遗传性代谢疾病患儿及其父母的日常生活困难、相关因素及生活质量:文献综述
JIMD Rep. 2017;33:1-10. doi: 10.1007/8904_2016_573. Epub 2016 Jun 26.
4
Metabolic Diet App Suite for inborn errors of amino acid metabolism.用于氨基酸代谢先天性疾病的代谢饮食应用套件。
Mol Genet Metab. 2016 Mar;117(3):322-7. doi: 10.1016/j.ymgme.2015.12.007. Epub 2015 Dec 23.
5
Inherited Metabolic Disorders: Aspects of Chronic Nutrition Management.遗传性代谢紊乱:慢性营养管理的各个方面。
Nutr Clin Pract. 2015 Aug;30(4):502-10. doi: 10.1177/0884533615586201. Epub 2015 Jun 16.