PulmZoom:在基因介导的呼吸系统疾病中针对基因组的收益率
Sara C Sadreameli1, Molly B Sheridan2, Sumathi I Rachamadugu2
1Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Pediatric pulmonology
|July 22, 2025
概括
向基因组有效诊断呼吸系统遗传疾病,粘膜子组显示最高的诊断产量. 仔细的患者选择提高了这些遗传测试的有效性.
科学领域:
- 遗传学 遗传学 是一个
- 肺部病理学 肺部病理学
- 医学诊断 医学诊断 医学诊断
背景情况:
- 向基因小组为诊断遗传性疾病提供了对外体/基因组测序的经济有效的替代方案.
- 针对呼吸系统疾病的向基因组的诊断产量存在有限的数据.
研究的目的:
- 评估基因介导呼吸系统疾病的向基因面板的诊断产量.
- 为了确定哪些呼吸道子板提供了最高的诊断产量.
主要方法:
- 在5年内对416名接受针对性基因组测试 (PulmZoom) 进行呼吸系统疾病的患者进行了回顾性审查.
- 使用下一代测序 (NGS) 和桑格测序进行变种确认.
主要成果:
- 总体而言,4.1%的测试证实了遗传诊断,1.9%表明了潜在的诊断.
- 粘膜纤维系疾病小组显示出最高的诊断产量,确定囊性纤维化和初级纤维系功能障碍是常见的疾病.
- 21.6%的结果是不确定的,72.4%是负面的.
结论:
- 向基因组是诊断基因介导呼吸系统疾病的宝贵工具.
- 通过肺病学和遗传学子专业评估优化患者选择可以增加面板产量.
- 需要进一步的研究来比较连续测试策略,并进行成本效益分析.
相关概念视频
Common Respiratory Disorders
941
Respiratory disorders, a prevalent health concern globally, are generally divided into two primary categories: upper and lower respiratory tract disorders. The categorization is based on the area of the respiratory system they affect.
Upper respiratory disorders impact the airways above the vocal cords, encompassing areas like the nose, sinuses, and throat. Various conditions fall under this category, including the common cold and allergic rhinitis. These disorders can stem from several causes,...
Upper respiratory disorders impact the airways above the vocal cords, encompassing areas like the nose, sinuses, and throat. Various conditions fall under this category, including the common cold and allergic rhinitis. These disorders can stem from several causes,...
941
Drugs Used in Lower Respiratory Disorders: Overview
595
Lower respiratory tract disorders present challenges that often require skilled and nuanced approaches for effective management. Common ailments, such as asthma and chronic obstructive pulmonary disease (COPD), have prompted the development of intricate treatment strategies involving bronchodilators and anti-inflammatory drugs, each tailored to ease breathing and revitalize the lungs.
Bronchodilators, the first step of respiration enhancement, come in various forms, each with its own mechanism...
Bronchodilators, the first step of respiration enhancement, come in various forms, each with its own mechanism...
595
Asthma: Pathogenesis and Management
599
Asthma is a chronic pulmonary condition involving inflammation of the airways, hyper-reactivity, and reversible obstruction of the airways. This condition can significantly impact a person's quality of life, making breathing difficult and leading to distressing symptoms.
Asthma is classified as allergic and non-allergic. Allergens such as dust mites, pollen, and pet dander trigger allergic asthma, while factors like cold air, intense emotions, or exercise can induce non-allergic asthma.
Asthma is classified as allergic and non-allergic. Allergens such as dust mites, pollen, and pet dander trigger allergic asthma, while factors like cold air, intense emotions, or exercise can induce non-allergic asthma.
599
Asthma-IV: Diagnostic and Management
2.6K
The diagnosis and management of asthma are comprehensive, encompassing clinical assessments, lung function tests, and pharmacological interventions. Here's an overview:
Clinical Assessment for Asthma:
This is the first step in diagnosing and managing asthma. It includes:
Clinical Assessment for Asthma:
This is the first step in diagnosing and managing asthma. It includes:
2.6K
Gene Therapy
25.9K
Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be...
25.9K
Asthma-II: Pathophysiology and Classification
2.9K
Asthma is a prevalent chronic respiratory condition marked by inflammation and hyperresponsiveness of the airways. Its pathophysiology involves complex interactions among inflammatory pathways, immune responses, and neural mechanisms.
Additionally, environmental and genetic factors play crucial roles in determining an individual's susceptibility to asthma and the severity of their condition.
Critical processes in asthma pathophysiology include:
Additionally, environmental and genetic factors play crucial roles in determining an individual's susceptibility to asthma and the severity of their condition.
Critical processes in asthma pathophysiology include:
2.9K


