孤立与多重出生缺陷的分类:基于人口的登记册的自动化过程
Renata H Benjamin1, Joanne M Nguyen2, Margaret Drummond-Borg2
1Department of Epidemiology, Human Genetics, and Environmental Sciences, The University of Texas Health Science Center at Houston (UTHealth) School of Public Health, Houston, Texas, USA.
American journal of medical genetics. Part A
|May 21, 2024
概括
研究人员开发了自动化方法来将出生缺陷分类为孤立或多个,考虑发育关系. 这提高了分析先天缺陷原因和对先前研究的影响的准确性.
科学领域:
- 流行病学 流行病学
- 医学遗传学 医学遗传学
- 公共卫生 公共卫生
背景情况:
- 流行病学研究经常区分单独的和多重的出生缺陷.
- 将缺陷分类为孤立的和多个的缺陷可能是具有挑战性的,特别是当考虑与发展相关的同时发生的条件时.
研究的目的:
- 开发和应用自动化分类程序,以区分分离与多个出生缺陷的分离,并考虑与发育相关的缺陷.
- 在大型注册表中提高出生缺陷分析的准确性.
主要方法:
- 开发了自动分类算法,以识别孤立与多个出生缺陷.
- 将这些程序应用于来自德克萨斯州出生缺陷登记处 (1999-2018) 的235,544例非综合征病例数据集.
- 分析了孤立缺陷的比例,并确定了针对特定条件的与发育相关的同时发生的缺陷.
主要成果:
- 89%的非综合征病例被归类为具有孤立缺陷.
- 在脊柱裂变 (44%),下肢缩小缺陷 (44%) 和全脑 (32%) 的病例中,很大一部分是与发育相关的缺陷.
- 在43个特定缺陷中,孤立缺陷的比例差异很大 (25%-92%).
结论:
- 计算发育关系的自动分类对准确的出生缺陷分析至关重要.
- 这些发现凸显了在风险因素关联研究中需要考虑孤立与多个缺陷和发育关系的必要性.
- 对解释先前的出生缺陷研究和注册表方法的含义.
相关概念视频
Teratogenicity
2.4K
The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
2.4K
Mechanistic Models: Compartment Models in Individual and Population Analysis
37
Mechanistic models are utilized in individual analysis using single-source data, but imperfections arise due to data collection errors, preventing perfect prediction of observed data. The mathematical equation involves known values (Xi), observed concentrations (Ci), measurement errors (εi), model parameters (ϕj), and the related function (ƒi) for i number of values. Different least-squares metrics quantify differences between predicted and observed values. The ordinary least...
37
Documentation of Nursing Diagnosis
1.2K
The nurse documents nursing diagnoses and enters them into the patient record. The identified patient's nursing diagnosis is either written out with a plan of care or entered into the electronic health record.
In some settings, data-driven computerized decision support systems are in place, allowing for more accurate nursing diagnoses. The database within one of these systems includes diagnostic labels defining characteristics, activities, and indicators for nursing. A nurse enters...
In some settings, data-driven computerized decision support systems are in place, allowing for more accurate nursing diagnoses. The database within one of these systems includes diagnostic labels defining characteristics, activities, and indicators for nursing. A nurse enters...
1.2K
Pedigree Analysis
84.2K
Overview
84.2K
Probability Laws
40.8K
Overview
40.8K
Intellectual Disability
49
Intellectual disability (ID) is a neurodevelopmental condition characterized by deficits in intellectual and adaptive functioning that manifest during the developmental period. This condition encompasses challenges in reasoning, memory, problem-solving, and learning, accompanied by impairments in everyday life skills, such as communication, self-care, and social interactions. Intellectual disability affects approximately 1% of the population in the United States, impacting an estimated 5...
49


