生殖系遗传变异是否会影响抗药性的手术结果?
Paula Marques1, Patrick B Moloney2, Caihong Ji3
1Adult Genetic Epilepsy (AGE) Program, Krembil Brain Institute, Toronto Western Hospital, University Health Network, University of Toronto, Toronto, Ontario, Canada; Division of Neurology, University Health Network, University of Toronto, Toronto, Ontario, Canada.
Epilepsy research
|August 21, 2024
概括
遗传检测结果不应阻止手术评估. 患有特定遗传性类型的患者,如通道病变,可以获得良好的外科治疗结果,包括通过缓性手术减少发作.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 发病学 (Epileptology) 是一个专业的学科.
背景情况:
- 耐药性 (DRE) 在患者管理中提出了重大挑战.
- 术前评估对于确定DRE患者的手术候选人至关重要.
- 遗传变异在DRE手术结果中的作用是正在进行的研究领域.
研究的目的:
- 调查基因的致病变体与DRE患者的手术结果之间的相关性.
- 根据不同的遗传异常来比较手术候选和结果.
主要方法:
- 对接受手术前评估的成年DRE患者的回顾性分析.
- 包括具有致病性 (P) 或可能致病性 (LP) 生殖系变异的患者.
- 分类为切除性手术 (RS) 和非切除性手术候选人 (NRSC) 组,NRSC进一步分为息性手术或没有手术.
主要成果:
- 确定了142名患有P/LP变体的患者;36人接受了RS,106人是NRSC.
- 离子通道和突触基因的变异在NRSC (48%) 和RS (14%) 中更为普遍.
- 切除性手术患者,特别是结核性硬化综合体患者,表现良好 (47% Engel I/II). 在切除时,道病变患者的治疗结果更好 (71% Engel I/II) 比mTOR病变患者 (41% Engel I/II) 更好. 在NRSC中,性手术在65%的病例中导致≥50%的发作减少.
结论:
- 基因组发现,包括通道病变,不应阻止术前评估或手术.
- 适当选择具有遗传变异的DRE患者可以实现有利的外科手术结果.
- 建议对未来的注册进行进一步的洞察,以了解接受手术的单一性的结果.
相关概念视频
01:18Antiepileptic Drugs: GABAergic Pathway Potentiators
351
γ-aminobutyric acid or GABA, plays a pivotal role as an inhibitory neurotransmitter in the brain. GABA pathway potentiators, also known as GABAergic drugs, are a class of pharmaceutical agents designed to enhance the functioning of the GABAergic system. These medications primarily treat epilepsy, a neurological disorder characterized by recurrent seizures.
The key GABA pathway potentiators used in epilepsy management are as follows.
Benzodiazepines are a well-known class of drugs used for...
The key GABA pathway potentiators used in epilepsy management are as follows.
Benzodiazepines are a well-known class of drugs used for...
351
01:24Arteries of the Lower Limbs
181
Epilepsy is a chronic neurological disease marked by recurrent, unpredictable seizures. These seizures are caused by abnormal electrical discharges in the brain, leading to behavior, sensation, or consciousness alterations. They can also cause transient impairment of awareness, interfering with daily activities.
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...
181
01:20Antiepileptic Drugs: Modulators of Neurotransmitter Release Mediated by SV2A Protein
273
Antiepileptic drugs, such as levetiracetam (Keppra) and brivaracetam (Briviact), have emerged as crucial tools in managing epilepsy. These medications exert their therapeutic effects by targeting the synaptic vesicle protein SV2A, a transmembrane glycoprotein primarily found in the brain.
SV2A is a transmembrane glycoprotein located predominantly in the brain, modulating the release of neurotransmitters for neuronal communication. Both levetiracetam and brivaracetam exhibit a high affinity for...
SV2A is a transmembrane glycoprotein located predominantly in the brain, modulating the release of neurotransmitters for neuronal communication. Both levetiracetam and brivaracetam exhibit a high affinity for...
273
01:19Factors Affecting Drug Biotransformation: Biological
128
Biological factors significantly impact drug metabolism, influencing drug clearance, efficacy, and potential toxicity.
Species differences: Variations in enzyme systems across species can cause disparities in drug metabolism. For instance, humans may metabolize certain drugs faster than rodents, altering therapeutic effects.
Strain differences: Genetic variations within a species can result in differing enzyme activity, impacting drug response and toxicity. For example, some mouse strains may...
Species differences: Variations in enzyme systems across species can cause disparities in drug metabolism. For instance, humans may metabolize certain drugs faster than rodents, altering therapeutic effects.
Strain differences: Genetic variations within a species can result in differing enzyme activity, impacting drug response and toxicity. For example, some mouse strains may...
128
01:20Antiepileptic Drugs: Potassium Channel Activators
150
Ezocgabine or retigabine, an antiepileptic drug of remarkable efficacy, has revolutionized the management of seizures. It is a potassium channel activator, explicitly targeting the family of Q subtype potassium channels. It enhances the transmembrane potassium currents, regulating neuronal excitability. This action stabilizes the resting membrane potential, a pivotal factor in mitigating the hyperexcitability that characterizes epilepsy.
Ezogabine has gained approval as an adjunctive treatment...
Ezogabine has gained approval as an adjunctive treatment...
150
01:21Factors Affecting Drug Response: Overview
1.9K
When it comes to infants and young children, they are typically administered smaller doses of medication in comparison to adults. This is primarily because their organ functions still need to fully develop, meaning their bodies are not as efficient at metabolizing or eliminating drugs. Additionally, their blood-brain barrier is more permeable than in adults. As a result, high concentrations of drugs can easily penetrate the central nervous system (CNS), potentially leading to neurological...
1.9K