成人发病白血病:一个实用指南,最近的治疗更新,以及未来的方向
Karthik Muthusamy1, Ajith Sivadasan2, Luke Dixon3
1Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, United States.
Frontiers in neurology
|August 11, 2023
概括
成人发病性白血病 (AOLD) 很少见,但由于症状与已获得的疾病重叠而具有挑战性. 通过全面评估进行早期诊断对于有效治疗和管理这些白质疾病至关重要.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 放射学 放射学是一门学科.
背景情况:
- 成人发病型白血病 (AOLD) 是一组罕见的遗传白质疾病.
- 错误诊断是常见的,因为与已获得的神经疾病的重叠.
- 对AOLDs的全谱和诊断方法还没有得到很好的定义.
研究的目的:
- 提出一种实用的方法来诊断成年人中的AOLD.
- 审查常见的AOLD,它们的表现,以及神经成像发现.
- 讨论最近的治疗进展和诊断算法.
主要方法:
- 关于成人发病白血病的文献综述.
- 对临床,放射和遗传评估策略的分析.
- 讨论所获得的模仿和诊断挑战.
主要成果:
- 提出了一种综合诊断算法,整合了临床,放射和遗传数据.
- 详细介绍了AOLD常见和不常见的表现.
- 强调了分子确认对预后和治疗的重要性.
结论:
- 高可疑指数和综合诊断方法对于早期AOLD诊断至关重要.
- 及时诊断有助于治疗启动,临床试验招生和遗传咨询.
- 基因测试的进步正在改善对AOLDs的理解和管理.
相关概念视频
Lysosomal Hydrolases
3.8K
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
3.8K
Parkinson's Disease: Overview
598
Neurodegenerative disorders are progressive diseases that cause irreversible damage and loss to neurons in specific brain areas. Examples of these disorders include Parkinson's disease, Alzheimer's disease, Multiple Sclerosis (MS), and Amyotrophic Lateral Sclerosis (ALS). These disorders share characteristics such as proteinopathies, selective neuronal vulnerability, and a complex interplay between genetic and environmental factors. The primary therapeutic goal for these conditions is...
598
Alzheimer's Disease: Overview
521
Alzheimer's Disease (AD) is a continually advancing neurodegenerative disorder, distinguished by escalating memory loss, cognitive dysfunction, and dementia. The disease unfolds in three stages: preclinical, mild cognitive impairment (MCI), and dementia. Its onset is insidious, and the progression gradual, with the cause not well explained by other disorders.
The clinical diagnosis of AD hinges on the presence of memory and other cognitive impairments. Biomarkers, such as changes in Aβ...
The clinical diagnosis of AD hinges on the presence of memory and other cognitive impairments. Biomarkers, such as changes in Aβ...
521
Alzheimer's Disease: Treatment
215
Alzheimer's Disease (AD), a neurodegenerative disorder, is pathologically identified by amyloid plaques and neurofibrillary tangles composed of tau protein. AD pharmacotherapy aims to manage cognitive symptoms, delay disease progression, and treat behavioral symptoms. The treatment is primarily symptomatic and palliative, with no definitive disease-modifying therapy available. Cholinesterase inhibitors, including donepezil (Aricept), rivastigmine (Exelon), and galantamine (Razadyne), are...
215
Parkinson's Disease: Treatment
299
Neurodegenerative disorders, such as Parkinson's Disease (PD), involve the gradual and irreversible destruction of neurons in particular brain areas. These disorders exhibit standard features like proteinopathies, selective vulnerability of some neurons, and an interaction of intrinsic properties, genetics, and environmental influences in neural injury.
Parkinson's Disease is primarily a result of the loss of dopaminergic neurons in the substantia nigra pars compacta. The cornerstone of...
Parkinson's Disease is primarily a result of the loss of dopaminergic neurons in the substantia nigra pars compacta. The cornerstone of...
299
Myasthenia Gravis: Overview and Treatment
1.6K
Myasthenia gravis is a neuromuscular transmission disorder characterized by weakness and increased fatigability of skeletal muscles. It is an autoimmune disease affecting approximately one in 2000 people, where antibodies against the α1 subunit of nicotinic acetylcholine receptors are produced.
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which...
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which...
1.6K


