查奇综合征的诊断挑战:一种新型变体和临床描述
Samantha Saenz Hinojosa1, Carlos Reyes2, Vanessa I Romero1
1School of Medicine, Universidad San Francisco de Quito, Quito, Ecuador.
在资源有限的地区,诊断像CHARGE综合征这样的罕见遗传疾病可能具有挑战性. 基因测序发现了一种新的突变,在多年错误诊断后帮助诊断.
科学领域:
- 遗传学 遗传学 是一个
- 罕见疾病 罕见疾病
- 医学诊断 医学诊断 医学诊断
背景情况:
- 在资源有限的环境中,不常见的表型会导致诊断延迟和误诊.
- 查奇综合征是一种先天性疾病,影响多个器官,具有诊断挑战.
- 对遗传学专家和测试的有限访问加剧了发展中国家的这些问题.
更多相关视频
06:48Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
Published on: March 23, 2022
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
相关概念视频
Formulating and Validating Nursing Diagnosis II
Risk nursing diagnoses represent clinical judgments of an individual, family, or community more vulnerable to developing the health problem than others...
Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders
Researchers have identified genetic factors that increase susceptibility to schizophrenia, underscoring the intricate interplay between genetics and environment in disease development. At the core of schizophrenia's pathophysiology is excessive dopaminergic neurotransmission within...
Positive Symptoms Schizophrenia: Hallucinations and Delusions
Hallucinations
Hallucinations in...
Autism Spectrum Disorder
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
Documentation of Nursing Diagnosis
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...
Formulating and Validating Nursing Diagnosis I
There are thirteen domains...
