神经纤维素瘤病1 (雷克林豪森氏病) 的发生
1Division of Dermatology, Department of Medicine of Sensory and Motor Organs, Faculty of Medicine, Tottori University, Yonago, Japan.
The Keio journal of medicine
|August 27, 2023
概括
神经纤维素瘤1 (NF1) 管理正在通过新的诊断标准,分子测试和针对性疗法 (如为plexiform神经纤维瘤治疗的塞卢美替尼布) 取得进展. 早期检测和多学科护理对于日本的NF1患者至关重要.
科学领域:
- 遗传学 遗传学 是一个
- 在瘤学瘤学.
- 儿科 儿科 儿科
背景情况:
- 神经纤维化1 (NF1) 或·雷克林豪森病是一种常见的遗传疾病,影响神经系统和骨.
- NF1是由NF1基因突变引起的,导致RAS/MAPK通路过度激活和各种临床特征.
- 最近的进展包括修订的诊断标准 (2021年) 和在日本增加分子测试的可用性.
研究的目的:
- 总结最近在NF1表现的诊断,临床特征和治疗方面的进展.
- 突出针对日本背景的NF1护理方面的进展.
- 确定解决NF1患者未满足需求的未来方向.
主要方法:
- 关于NF1.1的最新文献和临床指导方针的审查.
- 对诊断标准和治疗进展的分析.
- 专注于日本医疗保健系统在NF1管理方面的进展.
主要成果:
- 日本NF1分子检测和遗传咨询的可用性.
- 为2021年提出的NF1国际诊断标准的修订.
- 在日本,在2022年批准塞卢梅替尼布用于小儿形神经纤维瘤.
- 重点是对NF1患者的年龄特定监测和多学科护理.
结论:
- 在NF1诊断和治疗方面取得了显著进展,特别是在向治疗方面.
- 多学科护理和患者教育仍然是管理NF1复杂表现的关键.
- 需要进一步的研究来解决剩余的挑战,并改善日本NF1患者的治疗结果.
更多相关视频
08:57Author Spotlight: Genetically Engineered Mouse Models and Pathological Characterization of Neurofibromatosis Type 1 Associated Tumors
Published on: May 17, 2024
2.0K
09:33Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens
Published on: August 25, 2023
1.2K
相关概念视频
Neurulation
42.1K
Neurulation is the embryological process which forms the precursors of the central nervous system and occurs after gastrulation has established the three primary cell layers of the embryo: ectoderm, mesoderm, and endoderm. In humans, the majority of this system is formed via primary neurulation, in which the central portion of the ectoderm—originally appearing as a flat sheet of cells—folds upwards and inwards, sealing off to form a hollow neural tube. As development proceeds, the...
42.1K
The Retinoblastoma Gene
4.1K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.1K
Neural Regulation
39.5K
Digestion begins with a cephalic phase that prepares the digestive system to receive food. When our brain processes visual or olfactory information about food, it triggers impulses in the cranial nerves innervating the salivary glands and stomach to prepare for food.
39.5K
Nervous Tissue: Neuron Types
2.9K
Neurons, the fundamental units of the nervous system, can be classified based on both their structural and functional characteristics.
Structurally, neurons are categorized into three main types: multipolar, bipolar, and unipolar (or pseudounipolar). Multipolar neurons, which are the most common type in the brain and spinal cord, as well as all motor neurons, possess multiple dendrites and a single axon.
Bipolar neurons, on the other hand, have one primary dendrite and one axon. They are...
Structurally, neurons are categorized into three main types: multipolar, bipolar, and unipolar (or pseudounipolar). Multipolar neurons, which are the most common type in the brain and spinal cord, as well as all motor neurons, possess multiple dendrites and a single axon.
Bipolar neurons, on the other hand, have one primary dendrite and one axon. They are...
2.9K
Enzyme-linked Receptors
78.7K
Enzyme-linked receptors are proteins that act as both receptor and enzyme, activating multiple intracellular signals. This is a large group of receptors that include the receptor tyrosine kinase (RTK) family. Many growth factors and hormones bind to and activate the RTKs.
Neurotrophin (NT) receptors are a family of RTKs, including trkA, trkB, and trkC (tropomyosin-related kinase) receptors. TrkA is specific for nerve growth factor (NGF), neurotrophin-6, and neurotrophin-7. TrkB binds...
Neurotrophin (NT) receptors are a family of RTKs, including trkA, trkB, and trkC (tropomyosin-related kinase) receptors. TrkA is specific for nerve growth factor (NGF), neurotrophin-6, and neurotrophin-7. TrkB binds...
78.7K
Disorders of the Nervous Tissue
1.4K
Nervous tissue is a vital component of the human body's communication system, enabling us to perceive and respond to stimuli. However, like all other tissues, it is vulnerable to disorders and diseases that can significantly impact our neurological functioning.
Homeostatic Imbalances:
Alzheimer's disease manifests as a gradual decline in memory and cognitive abilities, attributed to the buildup of amyloid plaques and neurofibrillary tangles in the brain.
Parkinson's disease arises from the...
Homeostatic Imbalances:
Alzheimer's disease manifests as a gradual decline in memory and cognitive abilities, attributed to the buildup of amyloid plaques and neurofibrillary tangles in the brain.
Parkinson's disease arises from the...
1.4K
