周期性中性:一个病例报告和文献综述
Jun-Li Li1, Jing-Jing Zhao1, Rui-Jun Li1
1Department of Pediatrics, Inner Mongolia Autonomous Region Maternal and Child Health Hospital Hohhot 010000, Inner Mongolia, China.
American journal of translational research
|March 17, 2025
概括
循环性中性缺血症 (CyN) 是一种罕见的疾病,其特点是周期性低中性粒细胞计数. 基因检测,特别是ELANE突变,对于诊断复发性感染儿童的CyN至关重要.
科学领域:
- 血液学 血液学 血液学
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
背景情况:
- 循环性中性缺血症 (CyN) 是一种罕见的血液学疾病.
- 它的特点是中性粒细胞数量的反复,可预测的下降.
- 这导致对感染的易感性增加.
研究的目的:
- 提高对循环性中性衰竭的理解和诊断.
- 突出基因测试在CyN诊断中的作用.
- 介绍一个被诊断为CyN的儿童的案例研究.
主要方法:
- 来自患有复发性感染的儿科患者的临床数据的分析.
- 关于周期性中性和相关遗传突变的文献综述.
- 进行骨髓形态和遗传检测 (ELANE基因).
主要成果:
- 一个19个月大的孩子每14-47天出现一次周期性感染,口腔和中性质衰竭.
- 骨髓形态是正常的.
- 基因检测显示了异合的ELANE突变,证实了周期性中性衰竭的诊断.
结论:
- 随着颗粒细胞衰减的周期性临床表现,需要进行骨髓和遗传检测.
- 基因检测是周期性中性质的关键诊断工具.
- 早期诊断CyN可以及时管理和治疗.
相关概念视频
Chi-square Analysis
The chi-square test is a statistical hypothesis test. It is used to check whether there is a significant difference between an expected value and an observed value. In the context of genetics, it enables us to either accept or reject a hypothesis, based on how much the observed values deviate from the expected values.
The chi-square test was developed by Pearson in 1990.
The first step of performing a Chi-square analysis is to establish a null hypothesis, which assumes that there is no real...
The chi-square test was developed by Pearson in 1990.
The first step of performing a Chi-square analysis is to establish a null hypothesis, which assumes that there is no real...
Sex Linked Disorders
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Single Nucleotide Polymorphisms-SNPs
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
Hazard Ratio
The hazard ratio (HR) is a widely used measure in clinical trials to compare the risk of events, such as death or disease recurrence, between two groups over time. It reflects the ratio of hazard rates—the instantaneous risk of the event occurring—between a treatment group and a control group. This measure provides valuable insights into the relative effectiveness of a treatment by assessing how the risk of an event differs between the two groups.
For example, in a clinical trial evaluating a...
For example, in a clinical trial evaluating a...
Infectious Diseases and Their Occurrence
Infectious diseases appear in populations through various transmission patterns, influenced by pathogen characteristics, population immunity, environmental conditions, and social behavior. Understanding these patterns is essential for effective public health surveillance and intervention. These categories—sporadic, outbreak, epidemic, pandemic, and endemic—help frame the nature and scope of disease events.Sporadic diseases occur irregularly and infrequently, without a predictable temporal or...
Amebiasis
Entamoeba histolytica, a protozoan parasite, is responsible for intestinal and extraintestinal amebiasis. Though a significant proportion of infections remain asymptomatic, approximately 50 million individuals annually are estimated to present with clinical disease, resulting in up to 100,000 deaths globally. The disease burden is disproportionately high in regions with lower socioeconomic status, such as parts of India, Africa, Mexico, and Latin America.Etiology and TransmissionThe infective...


