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<meta name="description" content="Neurofibromatosis type 2 [NF2; MIM # 101000] is an autosomal dominant disorder characterised by the occurrence of vestibular schwannomas (VSs), schwannomas of other cranial, spinal and cutaneous nerves, cranial and spinal meningiomas and/or other central nervous system (CNS) tumours (e.g., ependymom …"><meta name="keywords" content="pmid:27958595, PMC5225790, doi:10.14639/0392-100X-1093, Review, M Ruggieri, A D Praticò, D G Evans, Biological Therapy*, Child, Humans, Neurofibromatosis 2 / complications, Neurofibromatosis 2 / diagnosis, Neurofibromatosis 2 / genetics, Neurofibromatosis 2 / therapy*, PubMed Abstract, NIH, NLM, NCBI, National Institutes of Health, National Center for Biotechnology Information, National Library of Medicine, MEDLINE"><meta name="robots" content="index,nofollow,noarchive"><meta property="og:title" content="Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies - PubMed"><meta property="og:url" content="https://pubmed.ncbi.nlm.nih.gov/27958595/"><meta property="og:description" content="Neurofibromatosis type 2 [NF2; MIM # 101000] is an autosomal dominant disorder characterised by the occurrence of vestibular schwannomas (VSs), schwannomas of other cranial, spinal and cutaneous nerves, cranial and spinal meningiomas and/or other central nervous system (CNS) tumours (e.g., ependymom …"><meta property="og:image" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg"><meta property="og:image:secure_url" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg"><meta property="og:type" content="website"><meta property="og:site_name" content="PubMed"><meta name="twitter:domain" content="pubmed.ncbi.nlm.nih.gov"><meta name="twitter:card" content="summary_large_image"><meta name="twitter:title" content="Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies - PubMed"><meta name="twitter:url" content="https://pubmed.ncbi.nlm.nih.gov/27958595/"><meta name="twitter:description" content="Neurofibromatosis type 2 [NF2; MIM # 101000] is an autosomal dominant disorder characterised by the occurrence of vestibular schwannomas (VSs), schwannomas of other cranial, spinal and cutaneous nerves, cranial and spinal meningiomas and/or other central nervous system (CNS) tumours (e.g., ependymom …"><meta name="twitter:image" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg">
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<meta name="citation_authors" content="Ruggieri M;Praticò AD;Serra A;Maiolino L;Cocuzza S;Di Mauro P;Licciardello L;Milone P;Privitera G;Belfiore G;Di Pietro M;Di Raimondo F;Romano A;Chiarenza A;Muglia M;Polizzi A;Evans DG;">
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|
||
Clipboard <span class="amount-in-clipboard"></span>
|
||
</a>
|
||
</div>
|
||
|
||
<span class="search-input-link user-guide-link" role="navigation" aria-label="User guide">
|
||
<a href="/help/"
|
||
data-ga-category="featured_link"
|
||
data-ga-action="user_guide">
|
||
User Guide
|
||
</a>
|
||
</span>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
|
||
</form>
|
||
|
||
|
||
<div id="article-page-header">
|
||
<div id="article-top-actions-bar" class="article-top-actions-bar">
|
||
<div class="inner-wrap">
|
||
<div class="actions-container">
|
||
<div class="return-to-search">
|
||
|
||
|
||
</div>
|
||
|
||
<div class="multiple-results-actions " role="region" aria-label="save, email, send to">
|
||
<button id="save-results-panel-trigger"
|
||
type="button"
|
||
class="save-results save-results-panel-trigger"
|
||
aria-expanded="false"
|
||
aria-controls="save-action-panel"
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="open">
|
||
Save
|
||
</button><button id="email-results-panel-trigger"
|
||
type="button"
|
||
class="email-results email-results-panel-trigger"
|
||
aria-expanded="false"
|
||
aria-controls="email-action-panel"
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="open">
|
||
Email
|
||
</button><div class="more-actions dropdown-block"><button id="more-actions-trigger"
|
||
type="button"
|
||
class="trigger more-actions-trigger"
|
||
ref="linksrc=show_moreactions_btn"
|
||
aria-label="Send to"
|
||
aria-controls="more-actions-dropdown">Send to</button><div id="more-actions-dropdown" class="dropdown dropdown-container" hidden><div class="content"><ul class="more-actions-links"><li><a class="clipboard-panel-trigger dropdown-block-link "
|
||
href="#"
|
||
role="button"
|
||
data-ga-category="save_share"
|
||
data-ga-action="clipboard"
|
||
data-ga-label="send">
|
||
Clipboard
|
||
</a></li><li><a role="button" class="dropdown-block-link bibliography-trigger-target" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F27958595%2F%23open-bibliography-panel">My Bibliography</a></li><li><a role="button" class="dropdown-block-link collections-trigger-target" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F27958595%2F%23open-collections-panel">Collections</a></li><li><a role="button" class="citation-manager-panel-trigger dropdown-block-link citation-manager-trigger-target" href="#">Citation manager</a></li></ul></div></div></div>
|
||
</div>
|
||
|
||
|
||
|
||
<div class="display-options" data-format-key="format"
|
||
data-default-format-value="abstract"
|
||
data-current-format-value="abstract" role="region">
|
||
<button
|
||
class="trigger usa-button"
|
||
title="Change format"
|
||
data-ga-category="display_options"
|
||
data-ga-action="display_options_dialog">
|
||
<span class="button-label">Display options</span>
|
||
</button>
|
||
|
||
<div class="dropdown" hidden>
|
||
<div class="title">
|
||
Display options
|
||
</div>
|
||
|
||
<div class="content">
|
||
|
||
<div class="format-container">
|
||
<span class="option-label">
|
||
Format
|
||
</span>
|
||
<select name="format" data-initial-value="abstract" aria-label="Display format" id="article-display-format">
|
||
<option value="abstract">Abstract</option>
|
||
|
||
<option value="pubmed">PubMed</option>
|
||
|
||
<option value="pmid">PMID</option>
|
||
|
||
</select>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
</div>
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="ZWSFJIIt5CXR9Hon4WCC07xfAXrac5wngJCKmybPFdKl38udHffEuf3T819m5G4H">
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="article-panels-container" class="article-panels-container">
|
||
<div id="save-action-panel" class="save-action-panel action-panel" aria-hidden="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Save citation to file
|
||
</h2>
|
||
<form id="save-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/results-export-ids/"
|
||
data-by-search-action="/results-export-search-data/"
|
||
data-by-ids-action="/results-export-ids/"
|
||
method="post"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="ZWSFJIIt5CXR9Hon4WCC07xfAXrac5wngJCKmybPFdKl38udHffEuf3T819m5G4H">
|
||
|
||
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="save-action-format" class="action-panel-label">
|
||
Format:
|
||
</label>
|
||
<select id="save-action-format" name="results-format" class="action-panel-selector">
|
||
<option value="summary-text">Summary (text)</option>
|
||
<option value="pubmed-text">PubMed</option>
|
||
<option value="pmid">PMID</option>
|
||
<option value="abstract">Abstract (text)</option>
|
||
<option value="csv">CSV</option>
|
||
</select>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Saving..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="save">
|
||
Create file
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Save citations to file' panel"
|
||
ref="linksrc=close_save_panel"
|
||
aria-controls="save-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div id="email-action-panel"
|
||
class="email-action-panel action-panel"
|
||
aria-hidden="true"
|
||
data-recaptcha-script-url="https://www.recaptcha.net/recaptcha/enterprise.js?render=explicit&onload=onloadCaptchaCallback"
|
||
data-recaptcha-enabled="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Email citation
|
||
</h2>
|
||
<form id="email-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/send-email/"
|
||
data-by-search-action="/results-export-email-by-search-data/"
|
||
data-by-ids-action="/send-email/"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post"
|
||
method="post"
|
||
>
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="ZWSFJIIt5CXR9Hon4WCC07xfAXrac5wngJCKmybPFdKl38udHffEuf3T819m5G4H">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<span class="action-panel-label">
|
||
Subject:
|
||
</span>
|
||
<span class="email-subject" id="email-subject" aria-label="Email subject">1 selected item: 27958595 - PubMed</span>
|
||
<input type="hidden" name="email-subject" value="1 selected item: 27958595"/>
|
||
<input type="hidden" name="email-subject-hash" value="83b901ac309c38349590a14509003253bd3bc20cedba8032dfee467c300cebe7"/>
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="email-to" class="action-panel-label required-field-asterisk">
|
||
To:
|
||
</label>
|
||
<input type="email" aria-label="Recipient Email Address" placeholder="email@example.com" id="email-to" class="email-to" pattern="^[a-zA-Z0-9_.+-]+@[a-zA-Z0-9-]+\.[a-zA-Z0-9-.]+$" maxlength="100" required>
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="email-from" class="action-panel-label">
|
||
From:
|
||
</label>
|
||
<input type="email" aria-label="Sender Email Address" placeholder="email@example.com" id="email-from" class="email-from" pattern="^[a-zA-Z0-9_.+-]+@[a-zA-Z0-9-]+\.[a-zA-Z0-9-.]+$" maxlength="256">
|
||
</div>
|
||
|
||
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="email-citation-format" class="action-panel-label">
|
||
Format:
|
||
</label>
|
||
<select id="email-citation-format" name="citation-format" class="action-panel-selector email-citation-format">
|
||
<option selected="selected" value="summary">Summary</option>
|
||
<option value="summary-text">Summary (text)</option>
|
||
<option value="abstract">Abstract</option>
|
||
<option value="abstract-text">Abstract (text)</option>
|
||
|
||
</select>
|
||
</div>
|
||
<div class="include-supplemental-container">
|
||
<input type="checkbox" aria-label="Include MeSH and other data" name="include-supplemental" id="email-include-supplemental" class="email-include-supplemental">
|
||
<label for="email-include-supplemental" class="email-include-supplemental-label">MeSH and other data</label>
|
||
</div>
|
||
|
||
|
||
|
||
<div class="form-field recaptcha ">
|
||
|
||
|
||
|
||
<div class="g-recaptcha" id="id-recaptcha" data-sitekey="6LfsWHMdAAAAAClKbtOpjQ2pMjgsGxvv7NdZW9uI"></div>
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
<div id="captcha-error-message" class="usa-input-error-message captcha-validation-message" role="alert"></div>
|
||
|
||
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Sending..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="send">
|
||
Send email
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Email citations' panel"
|
||
ref="linksrc=close_email_panel"
|
||
aria-controls="email-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
<input type="hidden" name="email-search-details" value="" />
|
||
<input type="hidden" name="email-search-details-hash" value="0e42663a6c3bd85498fcb88798998fed7bfdc45d457db35281e41afe13cc0524" />
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="collections-action-panel"
|
||
class="collections-action-panel action-panel in-progress-dots-panel"
|
||
aria-hidden="true"
|
||
data-collections-open-panel-enabled="false"
|
||
data-collections-open-panel-url-hash="#open-collections-panel">
|
||
<div class="inner-wrap">
|
||
<h3 class="action-panel-heading">
|
||
Add to Collections
|
||
</h3>
|
||
|
||
|
||
<form id="collections-action-panel-form"
|
||
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
|
||
data-existing-collections-url="/list-existing-collections/"
|
||
data-add-to-existing-collection-url="/add-to-existing-collection/"
|
||
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
|
||
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
|
||
data-myncbi-max-collection-name-length="100"
|
||
data-add-to-collection-max-amount="1000"
|
||
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="ZWSFJIIt5CXR9Hon4WCC07xfAXrac5wngJCKmybPFdKl38udHffEuf3T819m5G4H">
|
||
|
||
|
||
|
||
<div class="choice-group" role="radiogroup">
|
||
<ul class="radio-group-items">
|
||
<li>
|
||
<input type="radio"
|
||
id="collections-action-panel-new"
|
||
class="collections-new"
|
||
name="collections"
|
||
value="new"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="collections_radio_new">
|
||
<label for="collections-action-panel-new">Create a new collection</label>
|
||
</li>
|
||
<li>
|
||
<input type="radio"
|
||
id="collections-action-panel-existing"
|
||
class="collections-existing"
|
||
name="collections"
|
||
value="existing"
|
||
checked="true"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="collections_radio_existing">
|
||
<label for="collections-action-panel-existing">Add to an existing collection</label>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
|
||
<div class="controls-wrapper">
|
||
<div class="action-panel-control-wrap new-collections-controls">
|
||
<label for="collections-action-panel-add-to-new" class="action-panel-label required-field-asterisk">
|
||
Name your collection:
|
||
</label>
|
||
<input
|
||
type="text"
|
||
name="add-to-new-collection"
|
||
id="collections-action-panel-add-to-new"
|
||
class="collections-action-add-to-new"
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"
|
||
maxlength="100"
|
||
data-ga-category="save_share"
|
||
data-ga-action="create_collection"
|
||
data-ga-label="non_favorties_collection">
|
||
<div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
|
||
Name must be less than 100 characters
|
||
</div>
|
||
</div>
|
||
<div class="action-panel-control-wrap existing-collections-controls">
|
||
<label for="collections-action-panel-add-to-existing" class="action-panel-label">
|
||
Choose a collection:
|
||
</label>
|
||
<select id="collections-action-panel-add-to-existing"
|
||
class="action-panel-selector collections-action-add-to-existing"
|
||
data-ga-category="save_share"
|
||
data-ga-action="select_collection"
|
||
data-ga-label="($('#collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'">
|
||
</select>
|
||
<div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your collection due to an error<br>
|
||
<a href="#">Please try again</a>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="add">
|
||
Add
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Add to Collections' panel"
|
||
ref="linksrc=close_collections_panel"
|
||
aria-controls="collections-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="bibliography-action-panel"
|
||
class="bibliography-action-panel action-panel in-progress-dots-panel"
|
||
aria-hidden="true"
|
||
data-bibliography-open-panel-enabled="false"
|
||
data-bibliography-open-panel-url-hash="#open-bibliography-panel">
|
||
<div class="inner-wrap">
|
||
<h3 class="action-panel-heading">
|
||
Add to My Bibliography
|
||
</h3>
|
||
<form id="bibliography-action-panel-form"
|
||
class="bibliography-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
|
||
data-add-to-bibliography-max-amount="100"
|
||
data-add-to-bibliography-batch-size="10"
|
||
data-bibliography-delegates-url="/list-bibliography-delegates/"
|
||
data-add-to-bibliography-url="/add-to-bibliography/"
|
||
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
|
||
data-mybib-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/mybibliography/">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="ZWSFJIIt5CXR9Hon4WCC07xfAXrac5wngJCKmybPFdKl38udHffEuf3T819m5G4H">
|
||
|
||
|
||
|
||
<div class="action-panel-control-wrap bibliographies-controls">
|
||
<div class="choice-group">
|
||
<ul class="bibliographies-action-add radio-group-items">
|
||
<li>
|
||
<input name="bibliography" id="my-bibliography" class="my-bibliography" type="radio" checked/>
|
||
<label for="my-bibliography">My Bibliography</label>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="bibliographies-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your delegates due to an error<br>
|
||
<a href="#">Please try again</a>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore>
|
||
Add
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Add to bibliography' panel"
|
||
ref="linksrc=close_bibliography_panel"
|
||
aria-controls="bibliography-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="mybib"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div id="saved-search-action-panel" class="saved-search-action-panel action-panel " aria-hidden="true"
|
||
data-saved-search-open-panel-enabled="false"
|
||
data-saved-search-open-panel-url-hash="#open-saved-search-panel">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Your saved search
|
||
</h2>
|
||
|
||
<form id="saved-search-action-panel-form"
|
||
class="saved-search-action-panel-form action-panel-content action-form"
|
||
data-create-saved-search-url="/create-saved-search/"
|
||
data-try-search-terms-url="/try-search-term/"
|
||
data-saved-search-root-url="https://www.ncbi.nlm.nih.gov/myncbi/searches/">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="ZWSFJIIt5CXR9Hon4WCC07xfAXrac5wngJCKmybPFdKl38udHffEuf3T819m5G4H">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-name" class="action-panel-label saved-search-name-label required-field-asterisk">
|
||
Name of saved search:
|
||
</label>
|
||
<input maxlength="200"
|
||
type="text"
|
||
name="saved-search-name"
|
||
id="saved-search-name"
|
||
class="saved-search-name"
|
||
value=""
|
||
required
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/">
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-term" class="action-panel-label required-field-asterisk">
|
||
Search terms:
|
||
</label>
|
||
<textarea name="saved-search-term" id="saved-search-term" class="saved-search-term" required></textarea>
|
||
</div>
|
||
<div class="test-search-term-wrap">
|
||
<a href="#" class="try-search-term">Test search terms</a>
|
||
</div>
|
||
<div class="choice-group action-panel-extra-margin-top">
|
||
<span class="action-panel-label" id="fieldset-label">
|
||
Would you like email updates of new search results?
|
||
</span>
|
||
<fieldset id="saved-search-alert" aria-describedby="fieldset-label">
|
||
<legend class="usa-sr-only">Saved Search Alert Radio Buttons</legend>
|
||
<ul class="radio-group-items">
|
||
<li>
|
||
<input type="radio" id="saved-search-alert-yes" class="saved-search-alert-yes" name="saved-search-alert" value="yes" checked>
|
||
<label for="saved-search-alert-yes" class="action-panel-label">Yes</label>
|
||
</li>
|
||
<li>
|
||
<input aria-label="No radio input" type="radio" id="saved-search-alert-no" class="saved-search-alert-no" name="saved-search-alert" value="no">
|
||
<label for="saved-search-alert-no" class="action-panel-label">No</label>
|
||
</li>
|
||
</ul>
|
||
</fieldset>
|
||
</div>
|
||
|
||
<div class="alert-schedule-wrap">
|
||
<div class="action-panel-control-wrap">
|
||
<label class="action-panel-label">
|
||
Email:
|
||
</label>
|
||
<span aria-label="Email address" id="saved-search-email" class="action-panel-label"><span class="action-panel-label-bold"></span> (<a class="myncbi-account-settings" href="https://www.ncbi.nlm.nih.gov/account/settings/">change</a>)</span>
|
||
</div>
|
||
<div class="action-panel-control-wrap action-panel-extra-margin-top">
|
||
<label for="saved-search-frequency" class="action-panel-label">
|
||
Frequency:
|
||
</label>
|
||
<select id="saved-search-frequency" class="no-border-panel-selector saved-search-frequency">
|
||
<option value="monthly">Monthly</option>
|
||
<option value="weekly">Weekly</option>
|
||
<option value="daily">Daily</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap saved-search-monthly-additional">
|
||
<label for="saved-search-monthly-on-day" class="action-panel-label">
|
||
Which day?
|
||
</label>
|
||
<select id="saved-search-monthly-on-day" class="no-border-panel-selector">
|
||
<option value="Sunday">The first Sunday</option>
|
||
<option value="Monday">The first Monday</option>
|
||
<option value="Tuesday">The first Tuesday</option>
|
||
<option value="Wednesday">The first Wednesday</option>
|
||
<option value="Thursday">The first Thursday</option>
|
||
<option value="Friday">The first Friday</option>
|
||
<option value="Saturday">The first Saturday</option>
|
||
<option value="day">The first day</option>
|
||
<option value="weekday">The first weekday</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap saved-search-weekly-additional">
|
||
<label for="saved-search-weekly-on-day" class="action-panel-label">
|
||
Which day?
|
||
</label>
|
||
<select id="saved-search-weekly-on-day" class="no-border-panel-selector saved-search-weekly-on-day">
|
||
<option value="Sunday">Sunday</option>
|
||
<option value="Monday">Monday</option>
|
||
<option value="Tuesday">Tuesday</option>
|
||
<option value="Wednesday">Wednesday</option>
|
||
<option value="Thursday">Thursday</option>
|
||
<option value="Friday">Friday</option>
|
||
<option value="Saturday">Saturday</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-report" class="action-panel-label">
|
||
Report format:
|
||
</label>
|
||
<select id="saved-search-report" class="no-border-panel-selector saved-search-report">
|
||
<option value="DocSum">Summary</option>
|
||
<option value="DocSumText">Summary (text)</option>
|
||
<option value="Abstract">Abstract</option>
|
||
<option value="AbstractText">Abstract (text)</option>
|
||
<option value="MEDLINE">PubMed</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-amount" class="action-panel-label">
|
||
Send at most:
|
||
</label>
|
||
<select id="saved-search-amount" class="no-border-panel-selector saved-search-amount">
|
||
<option value="1">1 item</option>
|
||
<option value="5" selected>5 items</option>
|
||
<option value="10">10 items</option>
|
||
<option value="20">20 items</option>
|
||
<option value="50">50 items</option>
|
||
<option value="100">100 items</option>
|
||
<option value="200">200 items</option>
|
||
</select>
|
||
</div>
|
||
<div>
|
||
<input type="checkbox" id="saved-search-send-if-no-result" class="saved-search-send-if-no-result" name="saved-search-send-if-no-result">
|
||
<label for="saved-search-send-if-no-result" class="action-panel-label smaller-checkbox">
|
||
Send even when there aren't any new results
|
||
</label>
|
||
</div>
|
||
<div class="action-panel-control-wrap option-text-in-email-wrap">
|
||
<label for="saved-search-email-text" class="action-panel-label">
|
||
Optional text in email:
|
||
</label>
|
||
<textarea name="saved-search-email-text"
|
||
id="saved-search-email-text"
|
||
class="saved-search-email-text"></textarea>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Saving..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="save">
|
||
Save
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Your saved search' panel"
|
||
ref="linksrc=close_saved_search_panel"
|
||
aria-controls="saved-search-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="citation-manager-action-panel" class="citation-manager-action-panel action-panel" aria-hidden="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Create a file for external citation management software
|
||
</h2>
|
||
<form id="citation-manager-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/results-export-ids/"
|
||
data-by-search-action="/results-export-search-data/"
|
||
data-by-ids-action="/results-export-ids/"
|
||
method="post"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="ZWSFJIIt5CXR9Hon4WCC07xfAXrac5wngJCKmybPFdKl38udHffEuf3T819m5G4H">
|
||
|
||
|
||
|
||
<input name="results-format" type="hidden" value="pubmed"/>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Sending..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="citation_manager"
|
||
data-ga-label="save">
|
||
Create file
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Send citations to citation manager' panel"
|
||
ref="linksrc=close_citation_manager_panel"
|
||
aria-controls="citation-manager-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="citation_manager"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div id="rss-action-panel" class="rss-action-panel action-panel " aria-hidden="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Your RSS Feed
|
||
</h2>
|
||
|
||
<form id="rss-action-panel-form"
|
||
class="rss-action-panel-form action-panel-content action-form"
|
||
data-create-rss-feed-url="/create-rss-feed-url/"
|
||
data-search-form-term-value="">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="ZWSFJIIt5CXR9Hon4WCC07xfAXrac5wngJCKmybPFdKl38udHffEuf3T819m5G4H">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="rss-name" class="action-panel-label required-field-asterisk">
|
||
Name of RSS Feed:
|
||
</label>
|
||
<input maxlength="200"
|
||
placeholder="Name"
|
||
type="text"
|
||
name="rss-name"
|
||
id="rss-name"
|
||
class="rss-name"
|
||
value=''
|
||
required
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/">
|
||
</div>
|
||
|
||
<div class="rss-limit-wrap">
|
||
<div class="action-panel-control-wrap action-panel-extra-margin-top">
|
||
<label for="rss-limit" class="action-panel-label">
|
||
Number of items displayed:
|
||
</label>
|
||
<select id="rss-limit" class="no-border-panel-selector rss-limit">
|
||
<option value="5">5</option>
|
||
<option value="10">10</option>
|
||
<option value="15" selected="selected">15</option>
|
||
<option value="20">20</option>
|
||
<option value="50">50</option>
|
||
<option value="100">100</option>
|
||
</select>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Creating..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="save">
|
||
Create RSS
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Your RSS' panel"
|
||
ref="linksrc=close_rss_panel"
|
||
aria-controls="rss-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap rss-link-copy-wrap">
|
||
<label for="rss-link" class="usa-sr-only">RSS Link</label>
|
||
<input placeholder="Your RSS Feed Link" type="text" name="rss-link" id="rss-link" class="rss-link" title="RSS Link">
|
||
<button
|
||
type="button"
|
||
disabled
|
||
class="rss-link-copy-button disabled"
|
||
data-ga-category="save_share"
|
||
data-ga-action="rss"
|
||
data-ga-label="copy">
|
||
Copy
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="article-page" id="article-page" data-article-pmid="27958595">
|
||
<aside class="page-sidebar">
|
||
<div class="inner-wrap">
|
||
|
||
<div class="full-text-links">
|
||
<div class="full-view">
|
||
<h3 class="title">
|
||
Full text links
|
||
</h3>
|
||
<div class="full-text-links-list">
|
||
<a class="link-item
|
||
|
||
dialog-focus"
|
||
href="https://doi.org/10.14639/0392-100X-1093"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=False&PrId=9341&itool=Abstract-def&log$=linkouticon&uid=27958595&db=pubmed&nlmid=8213019"
|
||
title="See full text options at Pacini Editore"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="Pacini Editore"
|
||
data-ga-label="27958595"
|
||
><img src="https://cdn.ncbi.nlm.nih.gov/corehtml/query/egifs/https:--www.actaitalica.it-public-site-images-vbarberi-mceclip0.png" alt="Pacini Editore full text link"><span class="text">
|
||
|
||
Pacini Editore
|
||
|
||
</span></a><a class="link-item
|
||
pmc
|
||
"
|
||
href="https://pmc.ncbi.nlm.nih.gov/articles/pmid/27958595/"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=True&PrId=3494&itool=Abstract-def&log$=linkouticon&uid=27958595&db=pubmed&nlmid=8213019"
|
||
title="Free full text at PubMed Central"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="PMC"
|
||
data-ga-label="27958595"
|
||
><span class="text">
|
||
|
||
Free PMC article
|
||
|
||
</span></a>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<div class="short-view">
|
||
<a href="#" class="full-text-links-button full-text-links-dialog-trigger">
|
||
Full text links
|
||
</a>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div class="actions-buttons sidebar"><h3 class="title">Actions</h3><div class="inner-wrap"><button class="citation-button citation-dialog-trigger"
|
||
aria-label="Open dialog with citation text in different styles"
|
||
data-ga-category="save_share"
|
||
data-ga-action="cite"
|
||
data-ga-label="open"
|
||
data-all-citations-url="/27958595/citations/"
|
||
data-citation-style="nlm"
|
||
data-pubmed-format-link="/27958595/export/"><span class="button-label">Cite</span></button><link type="text/css" href="ncbi-overlay-block/src/overlay-block.css"><div class="collections-button-container" data-article-id="27958595" data-article-db="pubmed"><button class="collections-button collections-dialog-trigger"
|
||
aria-label="Save article in MyNCBI collections."
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_button"
|
||
data-collections-open-dialog-enabled="false"
|
||
data-collections-open-dialog-url="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F27958595%2F%23open-collections-dialog"
|
||
data-in-collections="false"><span class="button-label">Collections</span></button><div class="overlay" role="dialog"><div id="collections-action-dialog"
|
||
class="dialog collections-dialog"
|
||
aria-hidden="true"><div class="title">Add to Collections</div><div class="collections-action-panel action-panel"><form id="collections-action-dialog-form"
|
||
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
|
||
data-existing-collections-url="/list-existing-collections/"
|
||
data-add-to-existing-collection-url="/add-to-existing-collection/"
|
||
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
|
||
data-myncbi-max-collection-name-length="100"
|
||
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/"><input type="hidden" name="csrfmiddlewaretoken" value="ZWSFJIIt5CXR9Hon4WCC07xfAXrac5wngJCKmybPFdKl38udHffEuf3T819m5G4H"><div class="choice-group" role="radiogroup"><ul class="radio-group-items"><li><input type="radio"
|
||
id="collections-action-dialog-new"
|
||
class="collections-new"
|
||
name="collections"
|
||
value="new"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_radio_new"><label for="collections-action-dialog-new">Create a new collection</label></li><li><input type="radio"
|
||
id="collections-action-dialog-existing"
|
||
class="collections-existing"
|
||
name="collections"
|
||
value="existing"
|
||
checked="true"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_radio_existing"><label for="collections-action-dialog-existing">Add to an existing collection</label></li></ul></div><div class="controls-wrapper"><div class="action-panel-control-wrap new-collections-controls"><label for="collections-action-dialog-add-to-new" class="action-panel-label required-field-asterisk">
|
||
Name your collection:
|
||
</label><input
|
||
type="text"
|
||
name="add-to-new-collection"
|
||
id="collections-action-dialog-add-to-new"
|
||
class="collections-action-add-to-new"
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"
|
||
maxlength="100"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="create_collection"
|
||
data-ga-label="non_favorties_collection"><div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
|
||
Name must be less than 100 characters
|
||
</div></div><div class="action-panel-control-wrap existing-collections-controls"><label for="collections-action-dialog-add-to-existing" class="action-panel-label">
|
||
Choose a collection:
|
||
</label><select id="collections-action-dialog-add-to-existing"
|
||
class="action-panel-selector collections-action-add-to-existing"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="select_collection"
|
||
data-ga-label="($('.collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'"></select><div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your collection due to an error<br><a href="#">Please try again</a></div></div></div><div class="action-panel-actions"><button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="add">
|
||
Add
|
||
</button><button class="action-panel-cancel"
|
||
aria-label="Close 'Add to Collections' panel"
|
||
ref="linksrc=close_collections_panel"
|
||
aria-controls="collections-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button></div></form></div></div></div></div><button class="more-actions-button more-actions-dialog-trigger"
|
||
title="Open dialog with more actions to take"
|
||
ref="linksrc=more_actions_btn"></button><div class="display-options" data-format-key="format"
|
||
data-default-format-value="abstract"
|
||
data-current-format-value="abstract" role="region"><button
|
||
class="trigger usa-button"
|
||
title="Change format"
|
||
data-ga-category="display_options"
|
||
data-ga-action="display_options_dialog"><span class="button-label">Display options</span></button><div class="dropdown" hidden><div class="title">
|
||
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</a></li></ul></div></div></div><span class="period">. </span><span class="cit">2016 Oct;36(5):345-367.</span>
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Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies
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Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies
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><sup class="key">1</sup> Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Italy.</li>
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><sup class="key">5</sup> Unit of Paediatric Radiology, AOU "Policlinico-Vittorio Emanuele", Catania, Italy.</li>
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><sup class="key">7</sup> Division of Hematology, AOU "Policlinico-Vittorio Emanuele", University of Catania, Italy.</li>
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<li data-affiliation-id="short-view-affiliation-8"
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<p>
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Neurofibromatosis type 2 [NF2; MIM # 101000] is an autosomal dominant disorder characterised by the occurrence of vestibular schwannomas (VSs), schwannomas of other cranial, spinal and cutaneous nerves, cranial and spinal meningiomas and/or other central nervous system (CNS) tumours (e.g., ependymomas, astrocytomas). Additional features include early onset cataracts, optic nerve sheath meningiomas, retinal hamartomas, dermal schwannomas (i.e., NF2-plaques), and (few) café-au-lait spots. Clinically, NF2 children fall into two main groups: (1) congenital NF2 - with bilateral VSs detected as early as the first days to months of life, which can be stable/asymptomatic for one-two decades and suddenly progress; and (2) severe pre-pubertal (Wishart type) NF2- with multiple (and rapidly progressive) CNS tumours other-than-VS, which usually present first, years before VSs [vs. the classical adult (Gardner type) NF2, with bilateral VSs presenting in young adulthood, sometimes as the only disease feature]. Some individuals can develop unilateral VS associated with ipsilateral meningiomas or multiple schwannomas localised to one part of the peripheral nervous system [i.e., mosaic NF2] or multiple non-VS, non-intradermal cranial, spinal and peripheral schwannomas (histologically proven) [schwannomatosis]. NF2 is caused by mutations in the NF2 gene at chromosome 22q12.1, which encodes for a protein called merlin or schwannomin, most similar to the exrin-readixin-moesin (ERM) proteins; mosaicNF2 is due to mosaic phenomena for the NF2 gene, whilst schwannomatosis is caused by coupled germ-line and mosaic mutations either in the SMARCB1 gene [SWNTS1; MIM # 162091] or the LZTR1 gene [SWNTS2; MIM # 615670] both falling within the 22q region and the NF2 gene. Data driven from in vitro and animal studies on the merlin pathway [e.g., post-translational and upstream/downstream regulation] allowed biologically targeted treatment strategies [e.g., Lapatinib, Erlotinib, Bevacizumab] aimed to multiple tumour shrinkage and/or regression and tumour arrest of progression with functional improvement.
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La neurofibromatosi tipo 2 [NF2] è una malattia genetica a trasmissione autosomica dominante [MIM # 101000]. Clinicamente è caratterizzata da: (1) schwannomi bilaterali del (VIII) nervo acustico/vestibolare; (2) cataratta giovanile o amartomi retinici; (3) schwannomi a carico dei nervi periferici e dei nervi cranici; (4) tumori multipli del sistema nervoso centrale (es., meningiomi, astrocitomi, ependimomi); (5) lesioni cutanee: (a) placche NF2 (schwannomi cutanei); (b) (poche) macchie caffellatte; (6) “malformazioni dello sviluppo corticale cerebrale”. La prevalenza della (forma sintomatica di) NF2 nella popolazione generale è di 1 su 100.000-200.000 individui con un’incidenza di 1 su 33.000 nati. La forma classica a esordio nel giovane adulto è conosciuta come forma di Gardner, (esordio intorno ai 20-30 anni d’età) con manifestazioni legate agli schwannomi bilaterali del nervo acustico/vestibolare (diminuzione/perdita progressiva dell’udito, tinnito, vertigini) e/o più raramente con manifestazioni da (altri) tumori del sistema nervoso centrale e/o periferico. In età pediatrica il fenotipo è diverso (forma di Wishart): per primi compaiono abitualmente i tumori del sistema nervoso centrale in assenza di schwannomi vestibolari; si possono avere macchie caffellatte e placche NF2 e solo dopo anni i tumori del nervo cranico VIII e di altri nervi cranici. Il quadro è più grave. Esiste anche una forma “congenita” ad esordio nei primi giorni/mesi di vita, con schwannomi vestibolari di piccole dimensioni (stabili nel tempo: anche per anni/decenni ma con improvvisa e rapida progressione) e numerose placche NF2; in questa forma le altre manifestazioni (es. meningiomi, altri tumori, altri schwannomi) sono spesso più gravi e progressive delle altre forme. Il gene responsabile della NF2 è localizzato sul cromosoma 22q12.1. Il prodotto genico della NF2 è conosciuto con il nome di schwannomina o merlina [dalla famiglia di proteine 4.1 del tipo moesina-ezrina-radixina/ERM alla quale appartiene il gene della NF2) e ha funzioni di regolazione della crescita e del rimodellamento cellulare (soppressione della crescita cellulare e della tumorigenesi)]. Alcune persone possono presentare tutte le (o parte delle) manifestazioni della NF2 in un emilato o in segmenti corporei circoscritti [NF2 a mosaico]. Altre persone presentano schwannomi (confermati istologicamente) dei nervi periferici (non intradermici) e/o delle radici gangliari in assenza di tumori del nervo vestibolare (o di altri nervi cranici: anche se in alcuni casi vi possono essere anche tumori unilaterali o bilaterali del nervo acustico/vestibolare e/o dei nervi cranici misti) o di altri segni diagnostici per la NF2 [Schwannomatosi, SWNTS]. L’esordio in questa forma è intorno ai 30 anni d’età (sono conosciuti casi in età pediatrica) con tumori in svariate sedi (abitualmente tronco e arti). Si conoscono due forme principali: (1) SWNTS1 [MIM # 162091] causata da alterazioni del gene SMARCB1 [regolatore della cromatina actina-dipendente associato alla matrice e correlato alle proteina SWI/SBF, sub-famiglia B, membro di tipo 1; MIM # 601607], sul cromosoma 22q11.23 (posizione centromerica rispetto al gene della NF2); (2) SWNTS2 [MIM # 615670] causata da alterazioni del gene LZTR1 [regolatore della trascrizione di tipo 1 legato alla Leucina; MIM # 600574], cromosoma 22q11.21 (posizione centromerica rispetto al gene SMARCB1) che codifica per una proteina, membro della super-famiglia BTB-kelch. Il meccanismo molecolare della Schwannomatosi comprende: (1) mutazione germinale del gene SMARCB1 o del gene LZTR1; (2) ampia delezione all’interno del cromosoma 22 (con perdita del gene NF2 e dell’allele intatto SMARCB1 o LZTR1); e (3) mutazione somatica dell’allele intatto del gene NF2 [meccanismo conosciuto come “four hits”: “Quadrupla alterazione” (su entrambi gli alleli dei due geni SWNTS/NF2), con tre passaggi consecutivi]. Negli ultimi anni, accanto alle tradizionali terapie chirurgiche e/o radioterapiche sono stati anche impiegati diversi farmaci “biologici” (es., Lapatinib e Bevacizumab) con effetti di riduzione/arresto della crescita dei tipici tumori NF2.
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<p>
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<strong class="sub-title">
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Keywords:
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</strong>
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Childhood NF2; Congenital NF2; Eearly onset NF2; Merlin; Mosaic NF2; Paediatric NF2; Schwannomatosis.
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</p>
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<p class="copyright" id="copyright">
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© Copyright by Società Italiana di Otorinolaringologia e Chirurgia Cervico-Facciale, Rome, Italy.
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</p>
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<p class="disclaimer" id="disclaimer">
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<a href="/disclaimer/" target="_blank" data-ga-category="literature_resources"
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data-ga-action="disclaimer_link" data-ga-label="under_abstract">PubMed Disclaimer</a>
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</p>
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<div class="figures" id="figures">
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Figures
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<a class="figure-link"
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data-image-alt="Fig. 1."
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data-figure-id="F1">
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<img class="figure-thumb" itemprop="thumbnail"
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id="article-image-0"
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src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3055/5225790/18c2c6736ba4/0392-100X-36-345-g001.gif"
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alt="Fig. 1." />
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<div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true">
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<div class="caption-wrap">
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<strong class="figure-label">
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<p> Fig. 1. </p>
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<div class="figure-caption-contents"><p> Close view up of the… </p></div>
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<strong class="figure-label">
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<p> Fig. 1. </p>
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<div class="figure-caption-contents"><p> Close view up of the skin of a child with NF2 showing multiple… </p></div>
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<figcaption id="figure-caption-0" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
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<strong class="figure-label">
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Fig. 1.
|
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<div class="figure-caption-contents">Close view up of the skin of a child with NF2 showing multiple café-au-lait spots of different size and shape (the largest are indicated by white arrows): note the paler brownish colour and the irregular size and margins.</div>
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<img class="figure-thumb" itemprop="thumbnail"
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id="article-image-1"
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src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3055/5225790/dd5470aa8a21/0392-100X-36-345-g002a.gif"
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alt="Fig. 2." />
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<meta itemprop="height" itemtype="http://schema.org/ImageObject" content="510">
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<strong class="figure-label">
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<p> Fig. 2. </p>
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<div class="figure-caption-contents"><p> Close view up of the… </p></div>
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<strong class="figure-label">
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<p> Fig. 2. </p>
|
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<div class="figure-caption-contents"><p> Close view up of the skin of a toddler with "congenital" onset NF2… </p></div>
|
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</div>
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<figcaption id="figure-caption-1" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
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<strong class="figure-label">
|
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Fig. 2.
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents">Close view up of the skin of a toddler with "congenital" onset NF2 showing classical NF2 plaques (in atypical locations) over (A) the fingers (black arrows) and (B) the knee (white arrows).</div>
|
||
|
||
|
||
|
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|
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</figcaption>
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|
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<a class="figure-link"
|
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href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3055/5225790/3d4adc227582/0392-100X-36-345-g002b.jpg"
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data-image-alt="Fig. 2."
|
||
data-pmc-id="PMC5225790"
|
||
data-figure-id="F2">
|
||
<img class="figure-thumb" itemprop="thumbnail"
|
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id="article-image-2"
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src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3055/5225790/dd5470aa8a21/0392-100X-36-345-g002a.gif"
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alt="Fig. 2." />
|
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</a>
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<p> Fig. 2. </p>
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<div class="figure-caption-contents"><p> Close view up of the… </p></div>
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<strong class="figure-label">
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<p> Fig. 2. </p>
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<div class="figure-caption-contents"><p> Close view up of the skin of a toddler with "congenital" onset NF2… </p></div>
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</div>
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<strong class="figure-label">
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Fig. 2.
|
||
</strong>
|
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|
||
|
||
|
||
<div class="figure-caption-contents">Close view up of the skin of a toddler with "congenital" onset NF2 showing classical NF2 plaques (in atypical locations) over (A) the fingers (black arrows) and (B) the knee (white arrows).</div>
|
||
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</figcaption>
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id="article-image-3"
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src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3055/5225790/b7f3c6fe10e0/0392-100X-36-345-g003a.gif"
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<p> Fig. 3. </p>
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<div class="figure-caption-contents"><p> (A) Magnified view of the… </p></div>
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|
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<p> Fig. 3. </p>
|
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<div class="figure-caption-contents"><p> (A) Magnified view of the eye in an NF2 child showing subcapsular lens… </p></div>
|
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<strong class="figure-label">
|
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Fig. 3.
|
||
</strong>
|
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|
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|
||
<div class="figure-caption-contents">(A) Magnified view of the eye in an NF2 child showing subcapsular lens opacities (white arrow); and (B) Axial T2- weighted magnetic resonance image of the brain in a child with "congenital" NF2 showing a hypointense area (white arrows) in the intra-orbital region ("intra-orbital meningioma").</div>
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<a class="figure-link"
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data-image-width="704"
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|
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data-image-alt="Fig. 3."
|
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data-pmc-id="PMC5225790"
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data-figure-id="F3">
|
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<img class="figure-thumb" itemprop="thumbnail"
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id="article-image-4"
|
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src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3055/5225790/b7f3c6fe10e0/0392-100X-36-345-g003a.gif"
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<strong class="figure-label">
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<p> Fig. 3. </p>
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<div class="figure-caption-contents"><p> (A) Magnified view of the… </p></div>
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<strong class="figure-label">
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<p> Fig. 3. </p>
|
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<div class="figure-caption-contents"><p> (A) Magnified view of the eye in an NF2 child showing subcapsular lens… </p></div>
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<strong class="figure-label">
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Fig. 3.
|
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|
||
<div class="figure-caption-contents">(A) Magnified view of the eye in an NF2 child showing subcapsular lens opacities (white arrow); and (B) Axial T2- weighted magnetic resonance image of the brain in a child with "congenital" NF2 showing a hypointense area (white arrows) in the intra-orbital region ("intra-orbital meningioma").</div>
|
||
|
||
|
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|
||
|
||
</figcaption>
|
||
|
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|
||
</figure>
|
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|
||
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|
||
itemscope itemtype="http://schema.org/ImageObject"
|
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|
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data-slide-index="5"
|
||
data-label-slug="fig-4">
|
||
<a class="figure-link"
|
||
href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3055/5225790/d590606a5938/0392-100X-36-345-g004a.jpg"
|
||
itemprop="contentUrl"
|
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aria-describedby="figure-caption-5"
|
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role="button"
|
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data-image-width="751"
|
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data-image-height="959"
|
||
data-image-alt="Fig. 4."
|
||
data-pmc-id="PMC5225790"
|
||
data-figure-id="F4">
|
||
<img class="figure-thumb" itemprop="thumbnail"
|
||
id="article-image-5"
|
||
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3055/5225790/31f609cb1e0b/0392-100X-36-345-g004a.gif"
|
||
alt="Fig. 4." />
|
||
</a>
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<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="751">
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|
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|
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|
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|
||
|
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|
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<strong class="figure-label">
|
||
<p> Fig. 4. </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Axial T2-weighted (A) and T1-weighted… </p></div>
|
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|
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|
||
|
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|
||
</div>
|
||
</div>
|
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|
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<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
|
||
|
||
|
||
|
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|
||
|
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|
||
<strong class="figure-label">
|
||
<p> Fig. 4. </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Axial T2-weighted (A) and T1-weighted contrast enhanced (gadolinium) (B) magnetic resonance images of… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
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|
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<figcaption id="figure-caption-5" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
Fig. 4.
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents">Axial T2-weighted (A) and T1-weighted contrast enhanced (gadolinium) (B) magnetic resonance images of the brain in an adolescent with Nf2 showing bilateral schwannomas (as hypointense lesions: white arrows) with intracanalar extension (outer white arrows); (C) Coronal T1-weighted contrast enhanced (gadolinium) magnetic resonance image of the brain in a child with NF2 showing bilateral schwannomas (as hyperintense lesions: white arrows) and multiple meningiomas (black arrows).</div>
|
||
|
||
|
||
|
||
|
||
</figcaption>
|
||
|
||
|
||
</figure>
|
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|
||
<figure class="figure-item tail"
|
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itemscope itemtype="http://schema.org/ImageObject"
|
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itemprop="associatedMedia"
|
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data-slide-index="6"
|
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data-label-slug="fig-4">
|
||
<a class="figure-link"
|
||
href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3055/5225790/f9f7c6f496cf/0392-100X-36-345-g004b.jpg"
|
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itemprop="contentUrl"
|
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aria-describedby="figure-caption-6"
|
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role="button"
|
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data-image-width="748"
|
||
data-image-height="978"
|
||
data-image-alt="Fig. 4."
|
||
data-pmc-id="PMC5225790"
|
||
data-figure-id="F4">
|
||
<img class="figure-thumb" itemprop="thumbnail"
|
||
id="article-image-6"
|
||
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3055/5225790/31f609cb1e0b/0392-100X-36-345-g004a.gif"
|
||
alt="Fig. 4." />
|
||
</a>
|
||
|
||
<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="748">
|
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<meta itemprop="height" itemtype="http://schema.org/ImageObject" content="978">
|
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|
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<div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true">
|
||
|
||
<div class="caption-wrap">
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Fig. 4. </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Axial T2-weighted (A) and T1-weighted… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Fig. 4. </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Axial T2-weighted (A) and T1-weighted contrast enhanced (gadolinium) (B) magnetic resonance images of… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
<figcaption id="figure-caption-6" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
Fig. 4.
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents">Axial T2-weighted (A) and T1-weighted contrast enhanced (gadolinium) (B) magnetic resonance images of the brain in an adolescent with Nf2 showing bilateral schwannomas (as hypointense lesions: white arrows) with intracanalar extension (outer white arrows); (C) Coronal T1-weighted contrast enhanced (gadolinium) magnetic resonance image of the brain in a child with NF2 showing bilateral schwannomas (as hyperintense lesions: white arrows) and multiple meningiomas (black arrows).</div>
|
||
|
||
|
||
|
||
|
||
</figcaption>
|
||
|
||
|
||
</figure>
|
||
|
||
<figure class="figure-item tail"
|
||
itemscope itemtype="http://schema.org/ImageObject"
|
||
itemprop="associatedMedia"
|
||
data-slide-index="7"
|
||
data-label-slug="fig-4">
|
||
<a class="figure-link"
|
||
href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3055/5225790/d4eb2a17ec9e/0392-100X-36-345-g004c.jpg"
|
||
itemprop="contentUrl"
|
||
aria-describedby="figure-caption-7"
|
||
role="button"
|
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data-image-width="790"
|
||
data-image-height="710"
|
||
data-image-alt="Fig. 4."
|
||
data-pmc-id="PMC5225790"
|
||
data-figure-id="F4">
|
||
<img class="figure-thumb" itemprop="thumbnail"
|
||
id="article-image-7"
|
||
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3055/5225790/31f609cb1e0b/0392-100X-36-345-g004a.gif"
|
||
alt="Fig. 4." />
|
||
</a>
|
||
|
||
<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="790">
|
||
<meta itemprop="height" itemtype="http://schema.org/ImageObject" content="710">
|
||
|
||
|
||
<div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true">
|
||
|
||
<div class="caption-wrap">
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Fig. 4. </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Axial T2-weighted (A) and T1-weighted… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Fig. 4. </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Axial T2-weighted (A) and T1-weighted contrast enhanced (gadolinium) (B) magnetic resonance images of… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
<figcaption id="figure-caption-7" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
Fig. 4.
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents">Axial T2-weighted (A) and T1-weighted contrast enhanced (gadolinium) (B) magnetic resonance images of the brain in an adolescent with Nf2 showing bilateral schwannomas (as hypointense lesions: white arrows) with intracanalar extension (outer white arrows); (C) Coronal T1-weighted contrast enhanced (gadolinium) magnetic resonance image of the brain in a child with NF2 showing bilateral schwannomas (as hyperintense lesions: white arrows) and multiple meningiomas (black arrows).</div>
|
||
|
||
|
||
|
||
|
||
</figcaption>
|
||
|
||
|
||
</figure>
|
||
|
||
<figure class="figure-item tail"
|
||
itemscope itemtype="http://schema.org/ImageObject"
|
||
itemprop="associatedMedia"
|
||
data-slide-index="8"
|
||
data-label-slug="fig-5">
|
||
<a class="figure-link"
|
||
href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3055/5225790/091a86083d44/0392-100X-36-345-g005.jpg"
|
||
itemprop="contentUrl"
|
||
aria-describedby="figure-caption-8"
|
||
role="button"
|
||
data-image-width="754"
|
||
data-image-height="1027"
|
||
data-image-alt="Fig. 5."
|
||
data-pmc-id="PMC5225790"
|
||
data-figure-id="F5">
|
||
<img class="figure-thumb" itemprop="thumbnail"
|
||
id="article-image-8"
|
||
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3055/5225790/67e91b8403b2/0392-100X-36-345-g005.gif"
|
||
alt="Fig. 5." />
|
||
</a>
|
||
|
||
<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="754">
|
||
<meta itemprop="height" itemtype="http://schema.org/ImageObject" content="1027">
|
||
|
||
|
||
<div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true">
|
||
|
||
<div class="caption-wrap">
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Fig. 5. </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Coronal T2-weighted magnetic resonance image… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Fig. 5. </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Coronal T2-weighted magnetic resonance image of the brain showing a hyperintense aspect of… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
<figcaption id="figure-caption-8" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
Fig. 5.
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents">Coronal T2-weighted magnetic resonance image of the brain showing a hyperintense aspect of the right hemi-tongue (seen in the left side of the Fig.: white arrows), which is atrophic because of a schwannoma of the 12th cranial nerve (note the normal aspect of the contralateral tongue delineated by the dashed white arrows).</div>
|
||
|
||
|
||
|
||
|
||
</figcaption>
|
||
|
||
|
||
</figure>
|
||
|
||
<figure class="figure-item tail"
|
||
itemscope itemtype="http://schema.org/ImageObject"
|
||
itemprop="associatedMedia"
|
||
data-slide-index="9"
|
||
data-label-slug="fig-6">
|
||
<a class="figure-link"
|
||
href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3055/5225790/d3059fe3b22d/0392-100X-36-345-g006a.jpg"
|
||
itemprop="contentUrl"
|
||
aria-describedby="figure-caption-9"
|
||
role="button"
|
||
data-image-width="665"
|
||
data-image-height="800"
|
||
data-image-alt="Fig. 6."
|
||
data-pmc-id="PMC5225790"
|
||
data-figure-id="F6">
|
||
<img class="figure-thumb" itemprop="thumbnail"
|
||
id="article-image-9"
|
||
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3055/5225790/16c6566acffe/0392-100X-36-345-g006a.gif"
|
||
alt="Fig. 6." />
|
||
</a>
|
||
|
||
<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="665">
|
||
<meta itemprop="height" itemtype="http://schema.org/ImageObject" content="800">
|
||
|
||
|
||
<div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true">
|
||
|
||
<div class="caption-wrap">
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Fig. 6. </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Axial T1-weighted contrast enhanced (gadolinium)… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Fig. 6. </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Axial T1-weighted contrast enhanced (gadolinium) (A-B) magnetic resonance images of the brain showing… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
<figcaption id="figure-caption-9" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
Fig. 6.
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents">Axial T1-weighted contrast enhanced (gadolinium) (A-B) magnetic resonance images of the brain showing multiple meningiomas as hyperintense lesions ("meningiomatosis").</div>
|
||
|
||
|
||
|
||
|
||
</figcaption>
|
||
|
||
|
||
</figure>
|
||
|
||
<figure class="figure-item tail"
|
||
itemscope itemtype="http://schema.org/ImageObject"
|
||
itemprop="associatedMedia"
|
||
data-slide-index="10"
|
||
data-label-slug="fig-6">
|
||
<a class="figure-link"
|
||
href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3055/5225790/525064ac9aeb/0392-100X-36-345-g006b.jpg"
|
||
itemprop="contentUrl"
|
||
aria-describedby="figure-caption-10"
|
||
role="button"
|
||
data-image-width="670"
|
||
data-image-height="875"
|
||
data-image-alt="Fig. 6."
|
||
data-pmc-id="PMC5225790"
|
||
data-figure-id="F6">
|
||
<img class="figure-thumb" itemprop="thumbnail"
|
||
id="article-image-10"
|
||
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3055/5225790/16c6566acffe/0392-100X-36-345-g006a.gif"
|
||
alt="Fig. 6." />
|
||
</a>
|
||
|
||
<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="670">
|
||
<meta itemprop="height" itemtype="http://schema.org/ImageObject" content="875">
|
||
|
||
|
||
<div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true">
|
||
|
||
<div class="caption-wrap">
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Fig. 6. </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Axial T1-weighted contrast enhanced (gadolinium)… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Fig. 6. </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Axial T1-weighted contrast enhanced (gadolinium) (A-B) magnetic resonance images of the brain showing… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
<figcaption id="figure-caption-10" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
Fig. 6.
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents">Axial T1-weighted contrast enhanced (gadolinium) (A-B) magnetic resonance images of the brain showing multiple meningiomas as hyperintense lesions ("meningiomatosis").</div>
|
||
|
||
|
||
|
||
|
||
</figcaption>
|
||
|
||
|
||
</figure>
|
||
|
||
<figure class="figure-item tail"
|
||
itemscope itemtype="http://schema.org/ImageObject"
|
||
itemprop="associatedMedia"
|
||
data-slide-index="11"
|
||
data-label-slug="fig-7">
|
||
<a class="figure-link"
|
||
href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3055/5225790/99e07fbc6eb5/0392-100X-36-345-g007a.jpg"
|
||
itemprop="contentUrl"
|
||
aria-describedby="figure-caption-11"
|
||
role="button"
|
||
data-image-width="643"
|
||
data-image-height="828"
|
||
data-image-alt="Fig. 7."
|
||
data-pmc-id="PMC5225790"
|
||
data-figure-id="F7">
|
||
<img class="figure-thumb" itemprop="thumbnail"
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id="article-image-11"
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src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3055/5225790/222ea765af73/0392-100X-36-345-g007a.gif"
|
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alt="Fig. 7." />
|
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|
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<strong class="figure-label">
|
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<p> Fig. 7. </p>
|
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</strong>
|
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|
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|
||
<div class="figure-caption-contents"><p> Sagittal (A) and axial (B)… </p></div>
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<strong class="figure-label">
|
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<p> Fig. 7. </p>
|
||
</strong>
|
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|
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|
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|
||
<div class="figure-caption-contents"><p> Sagittal (A) and axial (B) T2-weighted magnetic resonance images of the spinal cord… </p></div>
|
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<figcaption id="figure-caption-11" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
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<strong class="figure-label">
|
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Fig. 7.
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents">Sagittal (A) and axial (B) T2-weighted magnetic resonance images of the spinal cord in a child with NF2 showing round hyperintense lesions of the cervical cord at the C1 level (intraspinal ependymoma).</div>
|
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||
</figcaption>
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|
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data-label-slug="fig-7">
|
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<a class="figure-link"
|
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href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3055/5225790/694e8a15a244/0392-100X-36-345-g007b.jpg"
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itemprop="contentUrl"
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aria-describedby="figure-caption-12"
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role="button"
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data-image-width="716"
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data-image-alt="Fig. 7."
|
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data-pmc-id="PMC5225790"
|
||
data-figure-id="F7">
|
||
<img class="figure-thumb" itemprop="thumbnail"
|
||
id="article-image-12"
|
||
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3055/5225790/222ea765af73/0392-100X-36-345-g007a.gif"
|
||
alt="Fig. 7." />
|
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|
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<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="716">
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<div class="caption-wrap">
|
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|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Fig. 7. </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Sagittal (A) and axial (B)… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
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|
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<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
|
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|
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|
||
|
||
|
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|
||
|
||
<strong class="figure-label">
|
||
<p> Fig. 7. </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Sagittal (A) and axial (B) T2-weighted magnetic resonance images of the spinal cord… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
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|
||
<figcaption id="figure-caption-12" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
Fig. 7.
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents">Sagittal (A) and axial (B) T2-weighted magnetic resonance images of the spinal cord in a child with NF2 showing round hyperintense lesions of the cervical cord at the C1 level (intraspinal ependymoma).</div>
|
||
|
||
|
||
|
||
|
||
</figcaption>
|
||
|
||
|
||
</figure>
|
||
|
||
<figure class="figure-item tail"
|
||
itemscope itemtype="http://schema.org/ImageObject"
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itemprop="associatedMedia"
|
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data-slide-index="13"
|
||
data-label-slug="fig-8">
|
||
<a class="figure-link"
|
||
href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3055/5225790/1c73d5d5e068/0392-100X-36-345-g008a.jpg"
|
||
itemprop="contentUrl"
|
||
aria-describedby="figure-caption-13"
|
||
role="button"
|
||
data-image-width="732"
|
||
data-image-height="582"
|
||
data-image-alt="Fig. 8."
|
||
data-pmc-id="PMC5225790"
|
||
data-figure-id="F8">
|
||
<img class="figure-thumb" itemprop="thumbnail"
|
||
id="article-image-13"
|
||
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3055/5225790/f906a02b165b/0392-100X-36-345-g008a.gif"
|
||
alt="Fig. 8." />
|
||
</a>
|
||
|
||
<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="732">
|
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<meta itemprop="height" itemtype="http://schema.org/ImageObject" content="582">
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<div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true">
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||
<div class="caption-wrap">
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Fig. 8. </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Axial T1-weighted contrast enhanced (gadolinium)… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Fig. 8. </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Axial T1-weighted contrast enhanced (gadolinium) (A-B) magnetic resonance images of the spinal cord… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
<figcaption id="figure-caption-13" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
Fig. 8.
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents">Axial T1-weighted contrast enhanced (gadolinium) (A-B) magnetic resonance images of the spinal cord in an adolescent with NF2, showing (A) an intradural meningioma (white arrow) and (B) two schwannomas of the spinal nerves (white arrows).</div>
|
||
|
||
|
||
|
||
|
||
</figcaption>
|
||
|
||
|
||
</figure>
|
||
|
||
<figure class="figure-item tail"
|
||
itemscope itemtype="http://schema.org/ImageObject"
|
||
itemprop="associatedMedia"
|
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data-slide-index="14"
|
||
data-label-slug="fig-8">
|
||
<a class="figure-link"
|
||
href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3055/5225790/26262047fe47/0392-100X-36-345-g008b.jpg"
|
||
itemprop="contentUrl"
|
||
aria-describedby="figure-caption-14"
|
||
role="button"
|
||
data-image-width="736"
|
||
data-image-height="581"
|
||
data-image-alt="Fig. 8."
|
||
data-pmc-id="PMC5225790"
|
||
data-figure-id="F8">
|
||
<img class="figure-thumb" itemprop="thumbnail"
|
||
id="article-image-14"
|
||
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3055/5225790/f906a02b165b/0392-100X-36-345-g008a.gif"
|
||
alt="Fig. 8." />
|
||
</a>
|
||
|
||
<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="736">
|
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<div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true">
|
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|
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<div class="caption-wrap">
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Fig. 8. </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Axial T1-weighted contrast enhanced (gadolinium)… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Fig. 8. </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Axial T1-weighted contrast enhanced (gadolinium) (A-B) magnetic resonance images of the spinal cord… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
<figcaption id="figure-caption-14" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
Fig. 8.
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents">Axial T1-weighted contrast enhanced (gadolinium) (A-B) magnetic resonance images of the spinal cord in an adolescent with NF2, showing (A) an intradural meningioma (white arrow) and (B) two schwannomas of the spinal nerves (white arrows).</div>
|
||
|
||
|
||
|
||
|
||
</figcaption>
|
||
|
||
|
||
</figure>
|
||
|
||
<figure class="figure-item tail"
|
||
itemscope itemtype="http://schema.org/ImageObject"
|
||
itemprop="associatedMedia"
|
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data-slide-index="15"
|
||
data-label-slug="fig-9">
|
||
<a class="figure-link"
|
||
href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3055/5225790/30e1883fdb90/0392-100X-36-345-g009.jpg"
|
||
itemprop="contentUrl"
|
||
aria-describedby="figure-caption-15"
|
||
role="button"
|
||
data-image-width="783"
|
||
data-image-height="752"
|
||
data-image-alt="Fig. 9."
|
||
data-pmc-id="PMC5225790"
|
||
data-figure-id="F9">
|
||
<img class="figure-thumb" itemprop="thumbnail"
|
||
id="article-image-15"
|
||
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3055/5225790/a25fd04236d8/0392-100X-36-345-g009.gif"
|
||
alt="Fig. 9." />
|
||
</a>
|
||
|
||
<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="783">
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<meta itemprop="height" itemtype="http://schema.org/ImageObject" content="752">
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<div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true">
|
||
|
||
<div class="caption-wrap">
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Fig. 9. </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Axial T1-weighted magnetic resonance image… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Fig. 9. </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Axial T1-weighted magnetic resonance image of the brain in a child with a… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
<figcaption id="figure-caption-15" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
Fig. 9.
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents">Axial T1-weighted magnetic resonance image of the brain in a child with a congenital form of NF2 obtained at age 4 months showing bilateral vestibular schwannomas (case 1, ref. 34).</div>
|
||
|
||
|
||
|
||
|
||
</figcaption>
|
||
|
||
|
||
</figure>
|
||
|
||
<figure class="figure-item tail"
|
||
itemscope itemtype="http://schema.org/ImageObject"
|
||
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|
||
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|
||
data-label-slug="fig-10">
|
||
<a class="figure-link"
|
||
href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3055/5225790/c11a43f86fe7/0392-100X-36-345-g010.jpg"
|
||
itemprop="contentUrl"
|
||
aria-describedby="figure-caption-16"
|
||
role="button"
|
||
data-image-width="800"
|
||
data-image-height="600"
|
||
data-image-alt="Fig. 10."
|
||
data-pmc-id="PMC5225790"
|
||
data-figure-id="F10">
|
||
<img class="figure-thumb" itemprop="thumbnail"
|
||
id="article-image-16"
|
||
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3055/5225790/3322283fa046/0392-100X-36-345-g010.gif"
|
||
alt="Fig. 10." />
|
||
</a>
|
||
|
||
<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="800">
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<meta itemprop="height" itemtype="http://schema.org/ImageObject" content="600">
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<div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true">
|
||
|
||
<div class="caption-wrap">
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Fig. 10. </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><i> Merlin-signalling pathway </i> - In more…</div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Fig. 10. </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><i> Merlin-signalling pathway </i> - In more recent years, several lines of evidence have suggested…</div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
<figcaption id="figure-caption-16" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
Fig. 10.
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><i>Merlin-signalling pathway</i> - In more recent years, several lines of evidence have suggested that Merlin exists in multiple states, which vary from "<i>fully open</i>" to "<i>fully closed</i>" [including "<i>more closed</i>" and "<i>more open</i>" states (see text for further explanation)]. In its "<b><i>more closed</i></b>" frame <b>Merlin</b> is hyperphosphorylated (has many "<b><i>P</i></b>" groups) and connected to cytoskeletal actin (because of an increase in intra-molecular bounds - secondary to the increased "P" groups - which contribute to fold the protein structure) (<b>inactive Merlin</b>): thus, the <i>mitogen-signalling</i> pathway [activated via the PAK and PKA pathways], is active and increases the cellular proliferative phenomena; in its "<b><i>more open</i></b>" frame <b>Merlin</b> is dephosphorylated (has less "<b><i>P</i></b>" groups) and is disconnected from actin (<b>active Merlin</b>): thus, the <i>mitogen-signalling</i> pathway, is inactive and decreases cellular growth, survival and cellular motility. In <i>proliferating cells</i>: (a) interactions between the extracellular matrix and the GFR/RTK/integrin proteins (and their membrane receptors) trigger the Rac1/PAK pathway; and (b) interactions between the GPCR receptors and c-AMP trigger the PKA pathway, both activating in turn the structural changes of Merlin [i.e., phosphorylation, increase in intra-cellular bounds and protein folding], which switches to a "<i>more closed</i>" (inactive) state [<b>A</b>: <i>inactivating pathway</i>]. In <i>contact-inhibited cells</i>, different phosphatases (mediated by the adhesion junctions' molecules and by HA bounds to CD44 receptors), via activation of the MYPT1 dephosphorylation and inhibition of the PAK/PKA pathway, dephosphorylate Merlin (→ switching to active form), which in turn leads to decreased cellular growth [<b>B</b>: <i>activating pathway</i>]. AJs = adhesion junction proteins; c-AMP = cyclic AMP; CD44 = antigen CD44; C-term = carboxy-terminal hydrophilic tail of the Merlin protein; coiledcoil = a structural motif (part) of the Merlin protein in which alpha-helices are coiled together like the strands of a rope; ERM = Ezrinradixin- moesin proteins; FERM = (F)-Four-point-one (4.1) protein-ERM domain of the Merlin protein (amino-terminal); GFR = growth factor receptor; GPCR = G-protein-coupled receptor; HA = hyaluronic acid; MYPT1 = myosin phosphatase target, subunit 1; P = phosphorylation groups; PAK = serine/threonine p21-activated kinase; PKA = protein kinase A enzyme; Rac1 = Rho family small GTP binding proteins; Rho = RAS homologue gene family; RTK = receptor tyrosine kinase; Ser-518 = Serine-518; Thr-230 = Threonine 230; + + + = stimulation; - - - = inhibition (from Ruggieri et al., 2015 and Ruggieri et al., 2015 , adapted and modified).</div>
|
||
|
||
|
||
|
||
|
||
</figcaption>
|
||
|
||
|
||
</figure>
|
||
|
||
<figure class="figure-item tail"
|
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|
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|
||
<a class="figure-link"
|
||
href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3055/5225790/8bdcedf7cd9a/0392-100X-36-345-g011.jpg"
|
||
itemprop="contentUrl"
|
||
aria-describedby="figure-caption-17"
|
||
role="button"
|
||
data-image-width="754"
|
||
data-image-height="564"
|
||
data-image-alt="Fig. 11."
|
||
data-pmc-id="PMC5225790"
|
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data-figure-id="F11">
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<p> Fig. 11. </p>
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<div class="figure-caption-contents"><p> Diagram showing the PIK3/AKT/MAPK signalling… </p></div>
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<p> Fig. 11. </p>
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<div class="figure-caption-contents"><p> Diagram showing the PIK3/AKT/MAPK signalling pathway (see text for explanation): AKT, AK (Akr… </p></div>
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Fig. 11.
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<div class="figure-caption-contents">Diagram showing the PIK3/AKT/MAPK signalling pathway (see text for explanation): AKT, AK (Akr mouse) strain transforming; BRAF, B-raf (rapidly accelerated fibrosarcoma); CRAF, C-raf (rapidly accelerated fibrosarcoma); CREB, cAMP response element-binding protein; 4EBP1, Eukaryotic translation initiation factor 4E-binding protein 1; ERK1, extracellular signal regulated kinase 1; ERK2, extracellular signal regulated kinase 2; GSK3, glycogen synthase kinase 3; HRAS, Harvey rat sarcoma viral (Vras) oncogene homolog; HRAS-GTP, Harvey rat sarcoma viral (V-ras) oncogene homolog glucose triphosphate; KRAS, Kirsten rat sarcoma viral (V-ras) oncogene homolog; KRAS-GTP, Kirsten rat sarcoma viral (V-ras) oncogene homolog glucose triphosphate; GF, growth factor; MAP2K1, mitogen activated protein 2 kinase 1; MAP2K2, mitogen activated protein 2 kinase 2; MDM2, mouse double minute 2 homolog; MEK1, MAPK-extracellular kinase 1; MEK2, MAPK-extracellular kinase 2; mTORC1, mammalian target of rapamycin complex-1; mTORC2, mammalian target of rapamycin complex-2; NFkb, nuclear factor kappa-light-chain-enhancer of activated B cells; NRAS, Neuroblastoma rat sarcoma viral (V-ras) oncogene homolog; NRAS-GTP, Neuroblastoma rat sarcoma viral (V-ras) oncogene homolog glucose triphosphate; p70S6K, protein 70 serine/threonine 6 kinase; p120-GAP, p120-GTPase activating protein; PDK1, Phosphoinositide dependent kinase 1; PIK3, phosphatidylinositol-3-kinase; PIK3CA, phosphatidylinositol- 3-kinase catalytic a subunit; PIK3R, phosphatidylinositol-3-kinase regulatory subunit; PIP2, phosphatidylinositol bi-phosphate; PIP3, phosphatidylinositol tri-phosphate; PP1C, protein phosphatase 1 catalytic subunit C; PTEN, phosphatase and tensin homolog; RAF, rapidly accelerated fibrosarcoma protein; Raptor, regulatory associated protein of mTOR; RAS-GTP, rat sarcoma viral (V-ras) oncogene homolog glucose triphosphate; RASA1, rat sarcoma viral (V-ras) oncogene homolog GTPase activating protein 1; Rictor, rapamycin insensitive companion of mTOR; RTK, tyrosine kinase receptor; SHOC1, suppressor of C. elegans homolog 1 protein; SHOC2, suppressor of C. elegans homolog 2 protein; SOS1, son of Sevenless 1 homolog; SPRED, Sprouty-related EVH1 domain-containing protein 1 (from Ruggieri et al., 2015 , adapted and modified).</div>
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src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3055/5225790/dca1e6409513/0392-100X-36-345-g012.gif"
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<p> Fig. 12. </p>
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<div class="figure-caption-contents"><p> The four hits-three steps model… </p></div>
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<p> Fig. 12. </p>
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<div class="figure-caption-contents"><p> The four hits-three steps model of tumourigenesis in schwannomatosis [in the Fig. the… </p></div>
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Fig. 12.
|
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||
<div class="figure-caption-contents">The four hits-three steps model of tumourigenesis in schwannomatosis [in the Fig. the SMARCB1 gene is represented, but the model is alike for the LZTR1 gene]: (1) during the first step the constitutive SMARCB1 gene is inactivated (1<sup>st</sup> hit); (2) in addition to the constitutional SMARCB1 mutation, a second step consists in the loss of chromosome 22q, or a segment of it, involving the two loci [i.e., the wild-type SMARCB1 gene and the constitutional NF2 gene] (2<sup>nd</sup> and 3<sup>rd</sup> hits); followed (3) by a somatic mutation of the remaining wild-type NF2 allele that constitutes the third step (4<sup>th</sup> hit) giving rise to the local growth of the schwannoma (from Ruggieri et al., 2015 , adapted and modified).</div>
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<p> Fig. 13. </p>
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<div class="figure-caption-contents"><p> VEGF/VEGFR signalling pathway in normal… </p></div>
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<p> Fig. 13. </p>
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<div class="figure-caption-contents"><p> VEGF/VEGFR signalling pathway in normal vs. NF2 Schwann cells [Avastin]: in normal Schwann… </p></div>
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Fig. 13.
|
||
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||
<div class="figure-caption-contents">VEGF/VEGFR signalling pathway in normal vs. NF2 Schwann cells [Avastin]: in normal Schwann cells VEGF (vascular endothelial growth factor), SEMA3A (semaphorin 3 A) and SEMAF (semaphorin F) molecules and VEGFR (VEGF receptors), NRP (neuropilin) and Plexin receptors are normally expressed; in NF2 Schwann cells VEGF are normally expressed vs. lower expressed VEGFR; in addition to that, in NF2 Schwann cells NRP and Plexin receptors are normally expressed vs. lower expressed SEMA3A and SEMAF molecules (see boxes). VEGF typically binds to VEGFR2 [Panel 1] inducing endothelial proliferation, migration and permeability; VEGF can also compete with SEMA3A to bind to Neuropilin (NRP) receptors directly or can form a bridge between VEGFR2 and NRP potentiating its signalling via VEGFR2 [Panel 2]; SEMA3A and SEMAF bind NRP1 and NRP2, respectively, to induce endothelial cell regression and diminished permeability [Panel 3]. Thus, Avastin [an anti-VEGF antibody], when administered in NF2 patients acts not only via VEGFR inhibition (as VEGFR are lower expressed in NF2 Schwann cells) but also because it displaces VEGF from binding to NRP and Plexin receptor, thus allowing SEMA3A and SEMAF to bind to these receptors inducing endothelial cell regression and diminished permeability [see Panel 3 (from Ruggieri et al., 2015 and Ruggieri et al., 2015 , adapted and modified).</div>
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Huson SM, Hughes RAC. A Pathogenetic and Clinical Overview. London: Churchill Livingstone; 1994. The Neurofibromatoses.
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Evans DG. Neurofibromatosis type 2 (NF2): a clinical and molecular review. Orphanet J Rare Dis. 2009;4:16–16.
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Asthagiri AR, Parry DM, Butman JA, et al. Neurofibromatosis type 2. Lancet. 2009;373:1974–1986.
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Evans DG. Neurofibromatosis 2 Bilateral acoustic neurofibromatosis, central neurofibromatosis, NF2, neurofibromatosis type II. Genet Med. 2009;11:599–610.
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</button><div id="keyword-actions-publication-types-0"
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|
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<div id="mesh-terms" class="mesh-terms keywords-section">
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Neurofibromatosis 2 / therapy*
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LinkOut - more resources
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NCI CPTC Antibody Characterization Program
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<li>
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<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
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href="https://www.nih.gov/">NIH</a>
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var meta_nwds_ver = document.createElement('meta');
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jQuery.getScript("https://www.ncbi.nlm.nih.gov/core/alerts/alerts.js", function () {
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