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<meta name="keywords" content="C1858556, disease or syndrome, fbn1, mass phenotype, mass syndrome, mitral valve prolapse, aortic enlargement, skin and skeletal findings, mitral valve-aorta-skeleton-skin syndrome, octd, overlap connective tissue disease, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="A genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individuals symptoms." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=346932
|
||
ConceptID=C1858556
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">MASS syndrome<span class="h1sub">(OCTD)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346932</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1858556</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>MASS PHENOTYPE; OCTD; OVERLAP CONNECTIVE TISSUE DISEASE</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="FBN1 - ID: 2200 - NCBI Gene" href="/gene/2200" class="medgenPMinfo">FBN1</a> (15q21.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011431" target="_blank">MONDO:0011431</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/604308" target="_blank">604308</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99715">ORPHA99715</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">A genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individuals symptoms. [from <a title="Monarch Initiative" href="https://monarchinitiative.org/" class="defSource" target="_blank">MONDO</a>]</div>
|
||
</div>
|
||
|
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<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_2047"><div><strong>Arachnodactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0003706</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally long and slender fingers (spider fingers).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2047">Feature record</a> | <a href="/medgen?term=%22Arachnodactyly%22%5BClinical%20Features%5D%20OR%202047%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_362"><div><strong>Aortic aneurysm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>362</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0003486</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/362">Feature record</a> | <a href="/medgen?term=%22Aortic%20aneurysm%22%5BClinical%20Features%5D%20OR%20362%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7671"><div><strong>Mitral valve prolapse</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7671</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026267</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7671">Feature record</a> | <a href="/medgen?term=%22Mitral%20valve%20prolapse%22%5BClinical%20Features%5D%20OR%207671%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_322966"><div><strong>Ascending aortic dissection</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322966</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1836653</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322966">Feature record</a> | <a href="/medgen?term=%22Ascending%20aortic%20dissection%22%5BClinical%20Features%5D%20OR%20322966%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_323048"><div><strong>Disproportionate tall stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>323048</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1836996</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/323048">Feature record</a> | <a href="/medgen?term=%22Disproportionate%20tall%20stature%22%5BClinical%20Features%5D%20OR%20323048%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_377094"><div><strong>Dural ectasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>377094</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1851712</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/377094">Feature record</a> | <a href="/medgen?term=%22Dural%20ectasia%22%5BClinical%20Features%5D%20OR%20377094%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11348"><div><strong>Scoliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11348</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0036439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an abnormal lateral curvature of the spine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11348">Feature record</a> | <a href="/medgen?term=%22Scoliosis%22%5BClinical%20Features%5D%20OR%2011348%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57643"><div><strong>Pectus carinatum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57643</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0158731</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57643">Feature record</a> | <a href="/medgen?term=%22Pectus%20carinatum%22%5BClinical%20Features%5D%20OR%2057643%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57541"><div><strong>Striae distensae</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57541</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0152459</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Acquired Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Striae%20distensae%22%5BClinical%20Features%5D%20OR%2057541%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_41704"><div><strong>Ectopia lentis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41704</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0013581</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41704">Feature record</a> | <a href="/medgen?term=%22Ectopia%20lentis%22%5BClinical%20Features%5D%20OR%2041704%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arachnodactyly</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_362" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aortic aneurysm</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_322966" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ascending aortic dissection</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7671" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitral valve prolapse</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41704" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectopia lentis</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57541" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Striae distensae</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57643" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pectus carinatum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11348" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scoliosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_377094" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dural ectasia</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_323048" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Disproportionate tall stature</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39670624">Perioperative management of patients with mediastinal mass syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hachenberg T,
|
||
Schilling T,
|
||
Kretzschmar M</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Anaesthesiol</span>
|
||
2025 Feb 1;38(1):58-64.
|
||
Epub 2024 Dec 6
|
||
doi: 10.1097/ACO.0000000000001453.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39670624" target="_blank">39670624</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38246802">IgG4-related kidney disease: Clinicopathologic features, differential diagnosis, and mimics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gilani SI,
|
||
Buglioni A,
|
||
Cornell LD</span><br />
|
||
<span class="medgenPMjournal">Semin Diagn Pathol</span>
|
||
2024 Mar;41(2):88-94.
|
||
Epub 2023 Dec 20
|
||
doi: 10.1053/j.semdp.2023.12.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38246802" target="_blank">38246802</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19384235">Perioperative anaesthetic management of mediastinal mass in adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Erdös G,
|
||
Tzanova I</span><br />
|
||
<span class="medgenPMjournal">Eur J Anaesthesiol</span>
|
||
2009 Aug;26(8):627-32.
|
||
doi: 10.1097/EJA.0b013e328324b7f8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19384235" target="_blank">19384235</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22mass%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (5)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39863972">Otherwise, inoperable. The role of ECMO in thoracic surgery - focus on the mediastinum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pinto C,
|
||
Roncon R,
|
||
Mendogni P</span><br />
|
||
<span class="medgenPMjournal">Port J Card Thorac Vasc Surg</span>
|
||
2025 Jan 25;31(4):15-18.
|
||
doi: 10.48729/pjctvs.540.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39863972" target="_blank">39863972</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36722594">Difficult ventilation in a patient with a giant aortic aneurysm: A challenge for the anesthesiologist.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Montane-Muntane M,
|
||
Ascaso M,
|
||
Rivera-Vallejo L,
|
||
Navarro-Ripoll R</span><br />
|
||
<span class="medgenPMjournal">Ann Card Anaesth</span>
|
||
2023 Jan-Mar;26(1):86-89.
|
||
doi: 10.4103/aca.aca_309_20.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36722594" target="_blank">36722594</a><a href="/pmc/articles/PMC9997479" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35450768">Guidance for assessment of the muscle mass phenotypic criterion for the Global Leadership Initiative on Malnutrition (GLIM) diagnosis of malnutrition.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barazzoni R,
|
||
Jensen GL,
|
||
Correia MITD,
|
||
Gonzalez MC,
|
||
Higashiguchi T,
|
||
Shi HP,
|
||
Bischoff SC,
|
||
Boirie Y,
|
||
Carrasco F,
|
||
Cruz-Jentoft A,
|
||
Fuchs-Tarlovsky V,
|
||
Fukushima R,
|
||
Heymsfield S,
|
||
Mourtzakis M,
|
||
Muscaritoli M,
|
||
Norman K,
|
||
Nyulasi I,
|
||
Pisprasert V,
|
||
Prado C,
|
||
de van der Schuren M,
|
||
Yoshida S,
|
||
Yu Y,
|
||
Cederholm T,
|
||
Compher C</span><br />
|
||
<span class="medgenPMjournal">Clin Nutr</span>
|
||
2022 Jun;41(6):1425-1433.
|
||
Epub 2022 Apr 19
|
||
doi: 10.1016/j.clnu.2022.02.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35450768" target="_blank">35450768</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28754418">Surgical treatment of adrenal carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gaujoux S,
|
||
Weinandt M,
|
||
Bonnet S,
|
||
Reslinger V,
|
||
Bertherat J,
|
||
Dousset B</span><br />
|
||
<span class="medgenPMjournal">J Visc Surg</span>
|
||
2017 Oct;154(5):335-343.
|
||
Epub 2017 Jul 25
|
||
doi: 10.1016/j.jviscsurg.2017.06.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28754418" target="_blank">28754418</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23800581">Aortopathies: etiologies, genetics, differential diagnosis, prognosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paterick TE,
|
||
Humphries JA,
|
||
Ammar KA,
|
||
Jan MF,
|
||
Loberg R,
|
||
Bush M,
|
||
Khandheria BK,
|
||
Tajik AJ</span><br />
|
||
<span class="medgenPMjournal">Am J Med</span>
|
||
2013 Aug;126(8):670-8.
|
||
Epub 2013 Jun 22
|
||
doi: 10.1016/j.amjmed.2013.01.029.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23800581" target="_blank">23800581</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22MASS%20syndrome%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (24)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35450768">Guidance for assessment of the muscle mass phenotypic criterion for the Global Leadership Initiative on Malnutrition (GLIM) diagnosis of malnutrition.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barazzoni R,
|
||
Jensen GL,
|
||
Correia MITD,
|
||
Gonzalez MC,
|
||
Higashiguchi T,
|
||
Shi HP,
|
||
Bischoff SC,
|
||
Boirie Y,
|
||
Carrasco F,
|
||
Cruz-Jentoft A,
|
||
Fuchs-Tarlovsky V,
|
||
Fukushima R,
|
||
Heymsfield S,
|
||
Mourtzakis M,
|
||
Muscaritoli M,
|
||
Norman K,
|
||
Nyulasi I,
|
||
Pisprasert V,
|
||
Prado C,
|
||
de van der Schuren M,
|
||
Yoshida S,
|
||
Yu Y,
|
||
Cederholm T,
|
||
Compher C</span><br />
|
||
<span class="medgenPMjournal">Clin Nutr</span>
|
||
2022 Jun;41(6):1425-1433.
|
||
Epub 2022 Apr 19
|
||
doi: 10.1016/j.clnu.2022.02.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35450768" target="_blank">35450768</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24210289">Giant intracranial aneurysms in the paediatric population: Suggested management and a review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pruvot AS,
|
||
Curey S,
|
||
Derrey S,
|
||
Castel H,
|
||
Proust F</span><br />
|
||
<span class="medgenPMjournal">Neurochirurgie</span>
|
||
2016 Feb;62(1):20-4.
|
||
Epub 2013 Nov 5
|
||
doi: 10.1016/j.neuchi.2013.06.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24210289" target="_blank">24210289</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23800581">Aortopathies: etiologies, genetics, differential diagnosis, prognosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paterick TE,
|
||
Humphries JA,
|
||
Ammar KA,
|
||
Jan MF,
|
||
Loberg R,
|
||
Bush M,
|
||
Khandheria BK,
|
||
Tajik AJ</span><br />
|
||
<span class="medgenPMjournal">Am J Med</span>
|
||
2013 Aug;126(8):670-8.
|
||
Epub 2013 Jun 22
|
||
doi: 10.1016/j.amjmed.2013.01.029.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23800581" target="_blank">23800581</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22677301">Brain infections.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sarrazin JL,
|
||
Bonneville F,
|
||
Martin-Blondel G</span><br />
|
||
<span class="medgenPMjournal">Diagn Interv Imaging</span>
|
||
2012 Jun;93(6):473-90.
|
||
Epub 2012 Jun 5
|
||
doi: 10.1016/j.diii.2012.04.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22677301" target="_blank">22677301</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18328982">Sclerosing bone disorders.</a></div>
|
||
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22MASS%20syndrome%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (33)</a></div><h3 class="subhead">Therapy</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/39670624">Perioperative management of patients with mediastinal mass syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hachenberg T,
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Schilling T,
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2025 Feb 1;38(1):58-64.
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Epub 2024 Dec 6
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<span class="bold">PMID: </span><a href="/pubmed/39670624" target="_blank">39670624</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Karsenti D,
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Moreno-Garcia M,
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2023 Sep;55(9):796-803.
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<span class="bold">PMID: </span><a href="/pubmed/36849106" target="_blank">36849106</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31196982">Krüppel-like factor 3 inhibition by mutated lncRNA Reg1cp results in human high bone mass syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Yang M,
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Guo Q,
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Peng H,
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Li CJ,
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Su T,
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Zhang YL,
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Lei MX,
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2019 Aug 5;216(8):1944-1964.
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<div class="nl"><a target="_blank" href="/pubmed/26919284">Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Verstraeten A,
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Alaerts M,
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<span class="medgenPMjournal">Hum Mutat</span>
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2016 Jun;37(6):524-31.
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Epub 2016 Mar 14
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<span class="bold">PMID: </span><a href="/pubmed/26919284" target="_blank">26919284</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/16831943">Mechanisms involved in skeletal anabolic therapies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Martin TJ,
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Quinn JM,
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Gillespie MT,
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Ng KW,
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Karsdal MA,
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Sims NA</span><br />
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<span class="medgenPMjournal">Ann N Y Acad Sci</span>
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2006 Apr;1068:458-70.
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<span class="bold">PMID: </span><a href="/pubmed/16831943" target="_blank">16831943</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22MASS%20syndrome%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (14)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/31324475">Computed tomograpy evaluation of ureteral length in children.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Forzini T,
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Demouron M,
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Uhl M,
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Mesureur S,
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Renard C,
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Klein C,
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Haraux E</span><br />
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<span class="medgenPMjournal">J Pediatr Urol</span>
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2019 Oct;15(5):555.e1-555.e5.
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Epub 2019 Jun 21
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doi: 10.1016/j.jpurol.2019.06.011.
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<span class="bold">PMID: </span><a href="/pubmed/31324475" target="_blank">31324475</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/28754418">Surgical treatment of adrenal carcinoma.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gaujoux S,
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Weinandt M,
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Bonnet S,
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Reslinger V,
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Bertherat J,
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Dousset B</span><br />
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<span class="medgenPMjournal">J Visc Surg</span>
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2017 Oct;154(5):335-343.
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<span class="bold">PMID: </span><a href="/pubmed/28754418" target="_blank">28754418</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/24439798">Pineal region tumors: Clinical symptoms and syndromes.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rousselle C,
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des Portes V,
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Berlier P,
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Mottolese C</span><br />
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<span class="medgenPMjournal">Neurochirurgie</span>
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2015 Apr-Jun;61(2-3):106-12.
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doi: 10.1016/j.neuchi.2013.08.009.
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<span class="bold">PMID: </span><a href="/pubmed/24439798" target="_blank">24439798</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/23800581">Aortopathies: etiologies, genetics, differential diagnosis, prognosis and management.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Paterick TE,
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Humphries JA,
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Ammar KA,
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Jan MF,
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Loberg R,
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Bush M,
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Khandheria BK,
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<span class="medgenPMjournal">Am J Med</span>
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2013 Aug;126(8):670-8.
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Epub 2013 Jun 22
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doi: 10.1016/j.amjmed.2013.01.029.
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<span class="bold">PMID: </span><a href="/pubmed/23800581" target="_blank">23800581</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/22677301">Brain infections.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sarrazin JL,
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Bonneville F,
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Martin-Blondel G</span><br />
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<span class="medgenPMjournal">Diagn Interv Imaging</span>
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2012 Jun;93(6):473-90.
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<span class="bold">PMID: </span><a href="/pubmed/22677301" target="_blank">22677301</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22MASS%20syndrome%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (16)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39670624">Perioperative management of patients with mediastinal mass syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hachenberg T,
|
||
Schilling T,
|
||
Kretzschmar M</span><br />
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<span class="medgenPMjournal">Curr Opin Anaesthesiol</span>
|
||
2025 Feb 1;38(1):58-64.
|
||
Epub 2024 Dec 6
|
||
doi: 10.1097/ACO.0000000000001453.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39670624" target="_blank">39670624</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35579077">Development and validation of a grading system for assessing muscle mass phenotype using mid-upper arm muscle area and handgrip strength in patients with incurable cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Calixto-Lima L,
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Souza-Silva R,
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Oliveira LC,
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||
Chaves GV,
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Wiegert EVM</span><br />
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<span class="medgenPMjournal">Nutr Clin Pract</span>
|
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2022 Dec;37(6):1385-1399.
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Epub 2022 May 17
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||
doi: 10.1002/ncp.10857.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35579077" target="_blank">35579077</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31324475">Computed tomograpy evaluation of ureteral length in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Forzini T,
|
||
Demouron M,
|
||
Uhl M,
|
||
Mesureur S,
|
||
Renard C,
|
||
Klein C,
|
||
Haraux E</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Urol</span>
|
||
2019 Oct;15(5):555.e1-555.e5.
|
||
Epub 2019 Jun 21
|
||
doi: 10.1016/j.jpurol.2019.06.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31324475" target="_blank">31324475</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16831943">Mechanisms involved in skeletal anabolic therapies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martin TJ,
|
||
Quinn JM,
|
||
Gillespie MT,
|
||
Ng KW,
|
||
Karsdal MA,
|
||
Sims NA</span><br />
|
||
<span class="medgenPMjournal">Ann N Y Acad Sci</span>
|
||
2006 Apr;1068:458-70.
|
||
doi: 10.1196/annals.1346.043.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16831943" target="_blank">16831943</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12050200">Genetic control of susceptibility to osteoporosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ralston SH</span><br />
|
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<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
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2002 Jun;87(6):2460-6.
|
||
doi: 10.1210/jcem.87.6.8621.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12050200" target="_blank">12050200</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22MASS%20syndrome%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (11)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
||
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|
||
|
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|
||
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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|
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|
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1858556%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (58)</a></li>
|
||
<li><a href="/gtr/tests?term=C1858556%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1858556%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (11)</a></li>
|
||
<li><a href="/gtr/tests?term=C1858556%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (60)</a></li>
|
||
<li><a href="/gtr/tests?term=C1858556%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (14)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1858556%5bDISCUI%5d" target="_blank">See all (84)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=604308" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=99715" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=MASS%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22mass%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/MASS+syndrome/4492" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/mccune_albright_syndrome_2" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=MASS%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/8489/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
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<a href="/pubmed/clinical?term=MASS%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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