在兄弟姐妹中同时出现慢性非细菌性骨髓炎
Jenny A Patel1, Kristen B Thomas2, Elizabeth H Ristagno3
1Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN, USA.
Modern rheumatology case reports
|August 3, 2024
概括
慢性非细菌性骨髓炎 (CNO) 可以同时影响兄弟姐妹. 没有发现遗传突变,这表明复杂的遗传因素可能是这种罕见的自身炎症性疾病的基础.
科学领域:
- 儿科风湿病学 儿科风湿病学
- 自炎症性疾病 自炎症性疾病
- 遗传学 是一个遗传学.
背景情况:
- 慢性非细菌性骨髓炎 (CNO) 是一种罕见的自身炎症性疾病.
- 最近的进展包括治疗方案,疾病活动工具和分类标准.
- 对于CNO的免疫病原发生,人们对它的理解仍然很差.
研究的目的:
- 报告在兄弟姐妹中同时出现CNO的独特案例.
- 调查家族CNO中的潜在遗传和生物标志物关联.
- 为了解CNO复杂的病因作出贡献.
主要方法:
- 关于兄弟CNO发病的案例报告.
- 基因突变查. 基因突变查.
- 生物标志物分析. 生物标志物分析.
主要成果:
- 在兄弟姐妹中观察到同时出现CNO.
- 在受影响的姐妹中没有发现致病基因突变.
- 兄弟姐妹没有分享类似的生物标志物概况.
结论:
- 家庭性CNO可以在没有可识别的单基因突变的情况下发生.
- 对CNO的遗传倾向可能涉及多基因或多因素遗传.
- 需要进一步的研究来阐明CNO的免疫病原发生.
更多相关视频
18:40Combined In vivo Optical and µCT Imaging to Monitor Infection, Inflammation, and Bone Anatomy in an Orthopaedic Implant Infection in Mice
Published on: October 16, 2014
17.2K
09:09Treatment with Vancomycin Loaded Calcium Sulphate and Autogenous Bone in an Improved Rabbit Model of Bone Infection
Published on: March 14, 2019
9.0K
相关概念视频
Bone Disorders
Aging and its effect on bone remodeling is the most common cause of bone disorders. In young and healthy people, bone deposition and resorption happen at an equal rate to maintain optimal bone health.
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
Acute Pyelonephritis I: Introduction
Pyelonephritis is a bacterial infection that primarily affects the renal parenchyma and collecting system, including the renal pelvis, tubules, and interstitial tissue of one or both kidneys. It can be classified as either acute—a sudden, severe infection—or chronic, which refers to long-term or recurrent kidney infections.The primary cause of acute pyelonephritis (APN) is bacterial infection, with Escherichia coli accounting for approximately 70-80% of cases. Other bacteria, such as Proteus,...
Acute Pyelonephritis II: Diagnostic Studies and Management
Introduction:For diagnosing acute pyelonephritis, a comprehensive patient history is collected to identify symptoms such as dysuria, frequent or urgent urination, flank pain, or costovertebral angle (CVA) tenderness that may suggest a kidney infection.Physical ExaminationDuring the physical examination, CVA tenderness is assessed. This involves gentle percussion over the costovertebral angle, where tenderness often indicates a kidney infection.Diagnostic TestsUrinalysis: Used to identify white...
Atypical Pneumonia
Atypical pneumonia, often caused by Mycoplasma pneumoniae, is a form of pulmonary infection that differs from the classical presentation of bacterial pneumonia in both its cause and clinical symptoms. Mycoplasma pneumoniae is a pleomorphic bacterium notable for its lack of a rigid cell wall. This structural characteristic imparts resistance to beta-lactam antibiotics and significantly influences the bacterium’s behavior within the human host.Other pathogens responsible for the disease include...
Bacterial Meningitis I: Introduction
Bacterial meningitis is a severe, life-threatening inflammation of the meninges, particularly the pia mater and arachnoid mater, affecting the subarachnoid space, ventricles, and cerebrospinal fluid (CSF). If untreated, it can lead to significant neurological complications or death.Causative AgentsCommon pathogens vary with age and immune status. In adults, major organisms include Streptococcus pneumoniae, Neisseria meningitidis, and Haemophilus influenzae. Streptococcus agalactiae (group B...
Bacterial Meningitis II: Pathophysiology
Bacterial meningitis typically begins when pathogens such as Neisseria meningitidis and Streptococcus pneumoniae colonize the nasopharynx and invade the bloodstream. This process is facilitated by bacterial virulence factors, such as polysaccharide capsules, which resist phagocytosis and complement-mediated killing. Less commonly, bacteria reach the central nervous system via contiguous spread from infections like otitis media or sinusitis, through congenital or acquired dural defects, or...
