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<?xml version="1.0" encoding="utf-8"?>
<feed xmlns="http://www.w3.org/2005/Atom">
<id>https://lijiaxiang98.github.io</id>
<title>Gridea</title>
<updated>2021-01-16T09:56:33.686Z</updated>
<generator>https://github.com/jpmonette/feed</generator>
<link rel="alternate" href="https://lijiaxiang98.github.io"/>
<link rel="self" href="https://lijiaxiang98.github.io/atom.xml"/>
<subtitle>温故而知新</subtitle>
<logo>https://lijiaxiang98.github.io/images/avatar.png</logo>
<icon>https://lijiaxiang98.github.io/favicon.ico</icon>
<rights>All rights reserved 2021, Gridea</rights>
<entry>
<title type="html"><![CDATA[Epilepsy syndromes]]></title>
<id>https://lijiaxiang98.github.io/post/epilepsy-syndromes/</id>
<link href="https://lijiaxiang98.github.io/post/epilepsy-syndromes/">
</link>
<updated>2021-01-16T09:42:58.000Z</updated>
<content type="html"><![CDATA[<h2 id="idiopathic-generalized-epilepsy-syndromes">Idiopathic generalized epilepsy syndromes</h2>
<h3 id="juvenile-myoclonic-epilepsy">Juvenile myoclonic epilepsy</h3>
<ul>
<li>
<p>One of the most common epilepsy, 8 - 18 岁</p>
</li>
<li>
<p>Usually in the <mark><strong>early morning, soon after awakening</strong></mark>.</p>
</li>
<li>
<p><strong>Traid</strong>(单独或同时出现):</p>
</li>
</ul>
<ol>
<li>
<p><strong>Myoclonic seizure</strong>(<mark>Bilateral symmetrical</mark> <strong><a href="https://next.amboss.com/us/article/o500Og#Z01d6df8be10035f023994d8f101e42fe">myoclonic</a> jerks</strong>, without impaired consciousness)</p>
</li>
<li>
<p><strong>Generalized <a href="https://next.amboss.com/us/article/RR0l5f#Z39768e930bb5fa124e30a7cbab2dc9b2">tonic-clonic</a> <a href="https://next.amboss.com/us/article/RR0l5f#Z34c7e6b1cab99047c956783229d49b59">seizures</a></strong> -> happens <strong><mark>in the context of sleep deprivation or alcohol ingestion</mark></strong></p>
</li>
<li>
<p><a href="https://next.amboss.com/us/article/jR0_5f#Z84445f9bf9203c148ad6809c64e170f2">Absence seizures</a> with impaired consciousness <code>Least common</code></p>
</li>
</ol>
<ul>
<li>
<p><strong>Triggers</strong>: sleep deprivation, alcohol consumption, <strong>flickering lights</strong></p>
</li>
<li>
<p><strong>EEG:</strong> Irregular 3–5 Hz polyspikes and waves with <strong>frontocentral predominance</strong></p>
</li>
<li>
<p><strong>治疗:</strong> valproic acid</p>
</li>
<li>
<p>Responds well to <a href="https://next.amboss.com/us/article/-N0Ddg#Zcd438fb2824eb980a6d8940c193890ba">antiseizure drug</a>, <mark><strong>Life-long treatment usually required (high risk of recurrence)</strong></mark></p>
</li>
</ul>
<h3 id="juvenile-absence-epilepsy">Juvenile absence epilepsy</h3>
<ul>
<li>9 - 13 青春期，男女相同</li>
<li><strong>失神发作</strong>：少于 <strong><a href="https://next.amboss.com/us/article/jR0_5f#Z36ac3e42b8ed38dce15bc0ad7c5e9a1c">childhood absence epilepsy</a></strong></li>
<li><mark><strong>80% 有 Tonic-clonic seizures</strong></mark> -> valproic acid 为1线<strong>治疗</strong></li>
<li>预后较好，60%治疗后无发作，可转化为<strong>Juvenile myoclonic epilepsy</strong></li>
</ul>
<h3 id="childhood-absence-epilepsy">Childhood absence epilepsy</h3>
<ul>
<li>
<p>6-7岁，女孩多见，遗传</p>
</li>
<li>
<p><strong>失神发作</strong></p>
<ol>
<li>
<p>lasting <strong>5–10 seconds</strong>，发作频繁，up to 100x/d</p>
</li>
<li>
<p>无肌阵挛</p>
</li>
<li>
<p><strong>Amnestic</strong> during seizures</p>
</li>
<li>
<p><strong>Lip smacking, eye fluttering or head nodding are common</strong></p>
</li>
</ol>
</li>
<li>
<p><strong>非典型失神发作</strong>：<strong>more gradual</strong> onset and ending, <strong>duration of > 30 seconds</strong>.</p>
</li>
<li>
<p><strong>Triggers:</strong> <mark>hyperventilation</mark>, lights</p>
</li>
<li>
<p>治疗：<strong>Ethosuximide</strong>, 预后好，80%药物治疗后无发作</p>
<blockquote>
<p>★<em>九版书为 sodium valproate</em></p>
<p>Both <a href="https://next.amboss.com/us/article/-N0Ddg#Z92315e6aac25479596341610d7d4e742">ethosuximide</a> and sodium <a href="https://next.amboss.com/us/article/-N0Ddg#Zfe47f4f5fb7f8de32f7919dc8909896e">valproate</a> have a similar efficacy in preventing <a href="https://next.amboss.com/us/article/jR0_5f#Z84445f9bf9203c148ad6809c64e170f2">absence seizures</a> in <a href="https://next.amboss.com/us/article/jR0_5f#Z36ac3e42b8ed38dce15bc0ad7c5e9a1c">childhood absence epilepsy</a>. However, the risk of attentional dysfunction is higher with sodium <a href="https://next.amboss.com/us/article/-N0Ddg#Zfe47f4f5fb7f8de32f7919dc8909896e">valproate</a> than <a href="https://next.amboss.com/us/article/-N0Ddg#Z92315e6aac25479596341610d7d4e742">ethosuximide</a>.</p>
</blockquote>
</li>
</ul>
<h2 id="symptomatic-or-cryptogenic-generalized-epilepsy-syndromes">Symptomatic or cryptogenic generalized epilepsy syndromes</h2>
<blockquote>
<p>These syndromes <mark>do not respond well to <a href="https://next.amboss.com/us/article/-N0Ddg#Zcd438fb2824eb980a6d8940c193890ba">antiseizure drug</a> therapy</mark> and are commonly associated with <strong>developmental delays</strong>, as well as <strong>motor</strong> and <strong>cognitive impairments</strong>.</p>
</blockquote>
<figure data-type="image" tabindex="1"><img src="https://lijiaxiang98.github.io/post-images/1610790429799.png" alt="" loading="lazy"></figure>
<h3 id="infantile-spasmswest-syndrome">Infantile spasms(<strong><a href="https://next.amboss.com/us/article/jR0_5f#Z7e909d273a484ecf5eee446f36de8794">West syndrome</a></strong>)</h3>
<ul>
<li>3–7 months(<strong>1年内发病</strong>)</li>
</ul>
]]></content>
</entry>
<entry>
<title type="html"><![CDATA[Charcot-Marie-Tooth disease]]></title>
<id>https://lijiaxiang98.github.io/post/Charcot-Marie-Tooth disease/</id>
<link href="https://lijiaxiang98.github.io/post/Charcot-Marie-Tooth disease/">
</link>
<updated>2021-01-15T16:41:56.000Z</updated>
<content type="html"><![CDATA[<p>Hereditary motor sensory neuropathies (HMSN), 腓骨肌萎缩症</p>
<p><mark><strong>对称性</strong></mark>、缓慢进行性的<strong>四肢周围神经髓鞘脱失和轴索变性</strong>，造成肢体 <strong><mark>远端</mark></strong> 肌肉的<strong>萎缩</strong>和无力。</p>
<p>★CMT 患者临床表现的严重程度差异较大，<strong>可仅有弓形足</strong>，甚至<strong>无任何临床症状</strong>，仅在偶然的神经电生理检查中发现异常。而有些患者则<strong>出现严重的肌肉无力和萎缩</strong>。</p>
<h2 id="分类-types-i-vii-type-x-x-linked">分类: Types I-VII; Type X (X-linked)</h2>
<ul>
<li>
<p><strong>CMT1</strong>: 多为常染色显性遗传，Demyelinating form 脱髓鞘型 => ↓NCV(Nerve conduction velocity), <strong>PMP 22</strong>突变, 70%</p>
</li>
<li>
<p><strong>CMT2</strong>: 多为常染色显性遗传，Axonal form 轴索变性型 => NCV 正常或接近正常 20%</p>
</li>
<li>
<p>CMT3：婴儿期起病，称为 Dejerine-Sottas disease (<strong>severe</strong> sensorimotor neuropathy that frequently <strong>extends to the proximal muscles</strong>, and is associated with skeletal abnormalities such as <strong>scoliosis</strong>)</p>
</li>
<li>
<p>CMT4: 常染色隐性遗传，称为Refsum disease</p>
</li>
<li>
<p><strong>CMTX</strong>: X连锁，<strong>GJB1</strong> 突变，20%</p>
</li>
</ul>
<blockquote>
<p>CMT 的<strong>任何一型</strong>（包括脱髓鞘型）<strong>均存在轴索变性</strong>，且轴索丢失的程度是影响 神经损伤的主要因素 。</p>
</blockquote>
<h3 id="cmt1">CMT1</h3>
<p><strong>Cause:</strong> mutations in <mark><em>PMP22</em> (CMT1A, peripheral myelin protein-22)</mark>, <mark><em>MPZ</em>(CMT1B, myelin protein zero)</mark> genes (encode for myelin sheath proteins)</p>
<p>常染色显性遗传，脱髓鞘型 => ↓NCV(Nerve conduction velocity)</p>
<p>★<strong>自主神经</strong>和<strong>脑神经</strong>一般不受累。</p>
<p><strong>Diagnostics:</strong></p>
<ol>
<li>
<p>Nerve biopsy: repeated demyelinationand <strong><mark>remyelination</mark></strong> evident in large nerve fibers (<strong><mark>onion peel appearance</mark></strong>)</p>
<blockquote>
<p>CMT 1 型可以<strong>触及粗大的周围神经</strong>，尤其是<strong>耳大神经</strong>和<strong>尺神经</strong></p>
</blockquote>
</li>
<li>
<p>Nerve conduction studies: ↓ impulse conduction velocity</p>
</li>
</ol>
<p><strong>Clinical Features:</strong></p>
<ol>
<li>
<p><strong>小腿开始的肌萎缩</strong></p>
<ul>
<li><a href="https://www.amboss.com/us/knowledge/Cellular_changes_and_adaptive_responses#Za78e93e8d8af6655bfa6f64569ad19e2">Atrophy</a> of the calf muscles -> <a href="https://www.amboss.com/us/knowledge/Peripheral_nerve_injuries#Zbb2234eb409b82043629ee23dffb366e">Foot drop</a> -> Steppage gait 跨域步态</li>
<li>足部肌肉萎缩 -> <strong><mark>Pes cavus deformity</mark></strong>，<strong><mark><a href="https://www.amboss.com/us/knowledge/Toe_deformities#Z1210a6f3cdf5cf727680095fc2325187">Hammer toe</a></mark></strong></li>
</ul>
</li>
</ol>
<figure data-type="image" tabindex="1"><img src="https://lijiaxiang98.github.io/post-images/1610781396048.png" alt="" loading="lazy"></figure>
<ul>
<li>
<p>累及<strong>小腿全部肌群</strong>和<strong>大腿的下 1/3</strong> 时，整个下肢呈倒立的香槟酒瓶状 -> <strong>鹤腿</strong>(<strong>“stork legs”</strong>)</p>
</li>
<li>
<p>After <strong>several years</strong>, Intrinsic hand muscule may become involved. 波及手肌和前臂肌 => 系纽扣、开锁等动作困难。</p>
<blockquote>
<p>CMT 肌肉萎缩很少超过肘部和大腿的中 1/3 。</p>
</blockquote>
</li>
</ul>
<ol>
<li>
<p><strong>感觉障碍:</strong> 不突出，occurs late，深、浅感觉减退多呈手套-袜套样改变，★如果没有感觉损害的体征，肌电图也无感觉障碍的证据则应考虑其他诊断的可能，如<strong>远端型肌萎缩症</strong>。</p>
</li>
<li>
<p><strong>腱反射减低或消失</strong></p>
</li>
</ol>
<h3 id="cmt2">CMT2</h3>
<p><strong>Cause:</strong> mutations in <mark><em>MFN2</em></mark> gene (encodes for <strong>mitofusin-2 protein</strong> in neuronal mitochondria) → neuronal death</p>
<p>常染色显性遗传，轴索变性型 => NCV 正常或接近正常</p>
<p><strong>Axonal disease</strong> (no <a href="https://www.amboss.com/us/knowledge/Nerve_tissue,_synapses,_and_neurotransmitters#Z3989c89276a0b832011799ccd3e98f1e">demyelination</a> and remyelination) → no nerve <a href="https://www.amboss.com/us/knowledge/Cellular_changes_and_adaptive_responses#Z2565f5179622b57d8e166369a90801a0">hypertrophy</a>), <strong>no onion peel appearance</strong></p>
<p>★Sparing sensory neurons, resembling <strong>progressive spinal muscular atrophy</strong>, 远端型<strong>脊肌萎缩</strong>症</p>
<h2 id="诊断">诊断</h2>
<p><strong>临床表现</strong>: 儿童或青春期起病 + 缓慢进展的对称性双下肢无力 + ＂鹤腿＂、足下垂、弓形足 + 感觉障碍 + 腱反射反射减弱</p>
<p><strong>电生理</strong>: 运动神经传导速度减慢</p>
<p><strong>神经活检</strong>: 有脱髓鞘和（或）轴索变性</p>
<p><strong>基因检测</strong></p>
<p>★<strong>家族史</strong>: 无明确家族史的患者父母进行神经科检查非常重要</p>
<h2 id="鉴别">鉴别</h2>
<ul>
<li>远端型<strong>肌营养不良</strong>：肌电图呈<strong>肌源性改变</strong>，运动神经传导速度正常；四肢远端逐渐向上发展的肌无力、肌萎缩。</li>
<li>远端型<strong>脊肌萎缩</strong>症：肌萎缩分布和病程与 CMT 2 型相似，<strong>前角细胞损害</strong>(肌电图上可见广泛的纤颤、束颤和巨大动作电位)，<strong>脊旁肌肉</strong>和<strong>颊舌肌或面肌</strong>广泛的失神经支配提示脊肌萎缩症 。</li>
<li>遗传性<strong>共济失调</strong>伴<strong>肌萎缩</strong>症（又称 Roussy-Levy 综合征） ：缓慢进展的病程，有腓骨肌萎缩、弓形足、反射消失、神经传导速度减慢，神经活检有脱髓鞘和洋葱头结构，这些类似 <strong>CMT 1 型</strong>，但是 <mark><strong>有振动觉和位置觉的缺失</strong>，<strong>感觉性共济失调</strong>和<strong>姿势性震颤</strong> 。</mark></li>
</ul>
]]></content>
</entry>
<entry>
<title type="html"><![CDATA[Hello Gridea]]></title>
<id>https://lijiaxiang98.github.io/post/hello-gridea/</id>
<link href="https://lijiaxiang98.github.io/post/hello-gridea/">
</link>
<updated>2018-12-11T16:00:00.000Z</updated>
<summary type="html"><![CDATA[<p>👏 欢迎使用 <strong>Gridea</strong> ！<br>
✍️ <strong>Gridea</strong> 一个静态博客写作客户端。你可以用它来记录你的生活、心情、知识、笔记、创意... ...</p>
]]></summary>
<content type="html"><![CDATA[<p>👏 欢迎使用 <strong>Gridea</strong> ！<br>
✍️ <strong>Gridea</strong> 一个静态博客写作客户端。你可以用它来记录你的生活、心情、知识、笔记、创意... ...</p>
<!-- more -->
<p><a href="https://github.com/getgridea/gridea">Github</a><br>
<a href="https://gridea.dev/">Gridea 主页</a><br>
<a href="http://fehey.com/">示例网站</a></p>
<h2 id="特性">特性👇</h2>
<p>📝 你可以使用最酷的 <strong>Markdown</strong> 语法，进行快速创作</p>
<p>🌉 你可以给文章配上精美的封面图和在文章任意位置插入图片</p>
<p>🏷️ 你可以对文章进行标签分组</p>
<p>📋 你可以自定义菜单，甚至可以创建外部链接菜单</p>
<p>💻 你可以在 <strong>Windows</strong>，<strong>MacOS</strong> 或 <strong>Linux</strong> 设备上使用此客户端</p>
<p>🌎 你可以使用 <strong>𝖦𝗂𝗍𝗁𝗎𝖻 𝖯𝖺𝗀𝖾𝗌</strong> 或 <strong>Coding Pages</strong> 向世界展示，未来将支持更多平台</p>
<p>💬 你可以进行简单的配置，接入 <a href="https://github.com/gitalk/gitalk">Gitalk</a> 或 <a href="https://github.com/SukkaW/DisqusJS">DisqusJS</a> 评论系统</p>
<p>🇬🇧 你可以使用<strong>中文简体</strong>或<strong>英语</strong></p>
<p>🌁 你可以任意使用应用内默认主题或任意第三方主题，强大的主题自定义能力</p>
<p>🖥 你可以自定义源文件夹，利用 OneDrive、百度网盘、iCloud、Dropbox 等进行多设备同步</p>
<p>🌱 当然 <strong>Gridea</strong> 还很年轻，有很多不足，但请相信，它会不停向前 🏃</p>
<p>未来，它一定会成为你离不开的伙伴</p>
<p>尽情发挥你的才华吧！</p>
<p>😘 Enjoy~</p>
]]></content>
</entry>
</feed>