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<meta name="keywords" content="C4521680, deafness, autosomal dominant 34, with or without inflammation, dfna34, disease or syndrome, hearing loss, autosomal dominant 34, with or without inflammation, nlrp3, 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="DFNA34 is an autosomal dominant form of postlingual, slowly progressive sensorineural hearing loss with variable severity and variable additional features. Some patients have pure hearing loss without significant additional features, whereas some patients have features of an autoinflammatory disorder with systemic manifestations, including periodic fevers, arthralgias, and episodic urticaria. The disorder results from abnormally increased activation of the inflammatory pathway, and treatment with an IL1 receptor antagonist (see 147679) may be effective if started early (summary by Nakanishi et al., 2017)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1626346
|
||
ConceptID=C4521680
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hearing loss, autosomal dominant 34, with or without inflammation<span class="h1sub">(DFNA34)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1626346</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:">C4521680</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION</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="NLRP3 - ID: 114548 - NCBI Gene" href="/gene/114548" class="medgenPMinfo">NLRP3</a> (1q44)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0033261" target="_blank">MONDO:0033261</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/617772" target="_blank">617772</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">
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||
<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">DFNA34 is an autosomal dominant form of postlingual, slowly progressive sensorineural hearing loss with variable severity and variable additional features. Some patients have pure hearing loss without significant additional features, whereas some patients have features of an autoinflammatory disorder with systemic manifestations, including periodic fevers, arthralgias, and episodic urticaria. The disorder results from abnormally increased activation of the inflammatory pathway, and treatment with an IL1 receptor antagonist (see 147679) may be effective if started early (summary by Nakanishi et al., 2017). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
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</div>
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||
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<div class="portlet mgSection" id="ID_102">
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||
<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_13917"><div><strong>Arthralgia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>13917</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.">C0003862</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Joint pain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/13917">Feature record</a> | <a href="/medgen?term=%22Arthralgia%22%5BClinical%20Features%5D%20OR%2013917%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9149"><div><strong>Headache</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9149</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.">C0018681</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9149">Feature record</a> | <a href="/medgen?term=%22Headache%22%5BClinical%20Features%5D%20OR%209149%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2043"><div><strong>Arthritis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2043</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.">C0003864</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inflammation of a joint.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2043">Feature record</a> | <a href="/medgen?term=%22Arthritis%22%5BClinical%20Features%5D%20OR%202043%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1093"><div><strong>Conjunctivitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1093</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.">C0009763</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inflammation of the conjunctiva.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1093">Feature record</a> | <a href="/medgen?term=%22Conjunctivitis%22%5BClinical%20Features%5D%20OR%201093%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_96929"><div><strong>Lymphadenopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96929</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.">C0497156</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Enlargement (swelling) of a lymph node.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96929">Feature record</a> | <a href="/medgen?term=%22Lymphadenopathy%22%5BClinical%20Features%5D%20OR%2096929%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5169"><div><strong>Fever</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5169</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.">C0015967</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Body temperature elevated above the normal range.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5169">Feature record</a> | <a href="/medgen?term=%22Fever%22%5BClinical%20Features%5D%20OR%205169%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_798670"><div><strong>Periodic fever</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>798670</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.">C0015974</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Episodic fever that recurs at regular intervals.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/798670">Feature record</a> | <a href="/medgen?term=%22Periodic%20fever%22%5BClinical%20Features%5D%20OR%20798670%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_22587"><div><strong>Urticaria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>22587</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.">C0042109</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/22587">Feature record</a> | <a href="/medgen?term=%22Urticaria%22%5BClinical%20Features%5D%20OR%2022587%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 metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fever</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_798670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Periodic fever</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1093" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Conjunctivitis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96929" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lymphadenopathy</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_22587" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Urticaria</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_2043" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthritis</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_9149" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Headache</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_13917" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthralgia</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/34003176">ACG Clinical Guidelines: Prevention, Diagnosis, and Treatment of Clostridioides difficile Infections.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kelly CR,
|
||
Fischer M,
|
||
Allegretti JR,
|
||
LaPlante K,
|
||
Stewart DB,
|
||
Limketkai BN,
|
||
Stollman NH</span><br />
|
||
<span class="medgenPMjournal">Am J Gastroenterol</span>
|
||
2021 Jun 1;116(6):1124-1147.
|
||
doi: 10.14309/ajg.0000000000001278.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34003176" target="_blank">34003176</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29275977">Diagnosis of multiple sclerosis: 2017 revisions of the McDonald criteria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thompson AJ,
|
||
Banwell BL,
|
||
Barkhof F,
|
||
Carroll WM,
|
||
Coetzee T,
|
||
Comi G,
|
||
Correale J,
|
||
Fazekas F,
|
||
Filippi M,
|
||
Freedman MS,
|
||
Fujihara K,
|
||
Galetta SL,
|
||
Hartung HP,
|
||
Kappos L,
|
||
Lublin FD,
|
||
Marrie RA,
|
||
Miller AE,
|
||
Miller DH,
|
||
Montalban X,
|
||
Mowry EM,
|
||
Sorensen PS,
|
||
Tintoré M,
|
||
Traboulsee AL,
|
||
Trojano M,
|
||
Uitdehaag BMJ,
|
||
Vukusic S,
|
||
Waubant E,
|
||
Weinshenker BG,
|
||
Reingold SC,
|
||
Cohen JA</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2018 Feb;17(2):162-173.
|
||
Epub 2017 Dec 21
|
||
doi: 10.1016/S1474-4422(17)30470-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29275977" target="_blank">29275977</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27217054">Sepsis: pathophysiology and clinical management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gotts JE,
|
||
Matthay MA</span><br />
|
||
<span class="medgenPMjournal">BMJ</span>
|
||
2016 May 23;353:i1585.
|
||
doi: 10.1136/bmj.i1585.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27217054" target="_blank">27217054</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(hearing%20loss%2C%20autosomal%20dominant%2034%2C%20with%20or%20without%20inflammation)%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 (27297)</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/33976384">Targeting inflammation in atherosclerosis - from experimental insights to the clinic.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Soehnlein O,
|
||
Libby P</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Drug Discov</span>
|
||
2021 Aug;20(8):589-610.
|
||
Epub 2021 May 11
|
||
doi: 10.1038/s41573-021-00198-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33976384" target="_blank">33976384</a><a href="/pmc/articles/PMC8112476" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31417011">Inflammation and cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh N,
|
||
Baby D,
|
||
Rajguru JP,
|
||
Patil PB,
|
||
Thakkannavar SS,
|
||
Pujari VB</span><br />
|
||
<span class="medgenPMjournal">Ann Afr Med</span>
|
||
2019 Jul-Sep;18(3):121-126.
|
||
doi: 10.4103/aam.aam_56_18.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31417011" target="_blank">31417011</a><a href="/pmc/articles/PMC6704802" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29589535">Signaling Pathways in Inflammation and Anti-inflammatory Therapies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yeung YT,
|
||
Aziz F,
|
||
Guerrero-Castilla A,
|
||
Arguelles S</span><br />
|
||
<span class="medgenPMjournal">Curr Pharm Des</span>
|
||
2018;24(14):1449-1484.
|
||
doi: 10.2174/1381612824666180327165604.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29589535" target="_blank">29589535</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21828139">How I treat hemophagocytic lymphohistiocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jordan MB,
|
||
Allen CE,
|
||
Weitzman S,
|
||
Filipovich AH,
|
||
McClain KL</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2011 Oct 13;118(15):4041-52.
|
||
Epub 2011 Aug 9
|
||
doi: 10.1182/blood-2011-03-278127.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21828139" target="_blank">21828139</a><a href="/pmc/articles/PMC3204727" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12490960">Inflammation in atherosclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Libby P</span><br />
|
||
<span class="medgenPMjournal">Nature</span>
|
||
2002 Dec 19-26;420(6917):868-74.
|
||
doi: 10.1038/nature01323.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12490960" target="_blank">12490960</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hearing%20loss%2C%20autosomal%20dominant%2034%2C%20with%20or%20without%20inflammation%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 (223533)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37047492">Inflammatory Processes in Alzheimer's Disease-Pathomechanism, Diagnosis and Treatment: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Twarowski B,
|
||
Herbet M</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 Mar 30;24(7)
|
||
doi: 10.3390/ijms24076518.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37047492" target="_blank">37047492</a><a href="/pmc/articles/PMC10095343" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34243621">Genetics, pathophysiology, diagnosis, treatment, management, and prevention of migraine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khan J,
|
||
Asoom LIA,
|
||
Sunni AA,
|
||
Rafique N,
|
||
Latif R,
|
||
Saif SA,
|
||
Almandil NB,
|
||
Almohazey D,
|
||
AbdulAzeez S,
|
||
Borgio JF</span><br />
|
||
<span class="medgenPMjournal">Biomed Pharmacother</span>
|
||
2021 Jul;139:111557.
|
||
Epub 2021 May 17
|
||
doi: 10.1016/j.biopha.2021.111557.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34243621" target="_blank">34243621</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32892387">An inflammation classification system using cytokine parameters.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roe K</span><br />
|
||
<span class="medgenPMjournal">Scand J Immunol</span>
|
||
2021 Feb;93(2):e12970.
|
||
Epub 2020 Sep 18
|
||
doi: 10.1111/sji.12970.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32892387" target="_blank">32892387</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29882133">Markers of Inflammation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Germolec DR,
|
||
Shipkowski KA,
|
||
Frawley RP,
|
||
Evans E</span><br />
|
||
<span class="medgenPMjournal">Methods Mol Biol</span>
|
||
2018;1803:57-79.
|
||
doi: 10.1007/978-1-4939-8549-4_5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29882133" target="_blank">29882133</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24452074">Autoinflammatory diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rubartelli A</span><br />
|
||
<span class="medgenPMjournal">Immunol Lett</span>
|
||
2014 Oct;161(2):226-30.
|
||
Epub 2014 Jan 19
|
||
doi: 10.1016/j.imlet.2013.12.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24452074" target="_blank">24452074</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hearing%20loss%2C%20autosomal%20dominant%2034%2C%20with%20or%20without%20inflammation%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 (162476)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33976384">Targeting inflammation in atherosclerosis - from experimental insights to the clinic.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Soehnlein O,
|
||
Libby P</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Drug Discov</span>
|
||
2021 Aug;20(8):589-610.
|
||
Epub 2021 May 11
|
||
doi: 10.1038/s41573-021-00198-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33976384" target="_blank">33976384</a><a href="/pmc/articles/PMC8112476" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33329511">Treatment of Sarcoidosis: A Multidisciplinary Approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gerke AK</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2020;11:545413.
|
||
Epub 2020 Nov 19
|
||
doi: 10.3389/fimmu.2020.545413.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33329511" target="_blank">33329511</a><a href="/pmc/articles/PMC7732561" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32192660">Inflammation in Heart Failure: JACC State-of-the-Art Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Murphy SP,
|
||
Kakkar R,
|
||
McCarthy CP,
|
||
Januzzi JL Jr</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
2020 Mar 24;75(11):1324-1340.
|
||
doi: 10.1016/j.jacc.2020.01.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32192660" target="_blank">32192660</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27345422">The Cardiovascular Biology of Glucagon-like Peptide-1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Drucker DJ</span><br />
|
||
<span class="medgenPMjournal">Cell Metab</span>
|
||
2016 Jul 12;24(1):15-30.
|
||
Epub 2016 Jun 23
|
||
doi: 10.1016/j.cmet.2016.06.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27345422" target="_blank">27345422</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25113839">Cancer-related fatigue--mechanisms, risk factors, and treatments.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bower JE</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Clin Oncol</span>
|
||
2014 Oct;11(10):597-609.
|
||
Epub 2014 Aug 12
|
||
doi: 10.1038/nrclinonc.2014.127.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25113839" target="_blank">25113839</a><a href="/pmc/articles/PMC4664449" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hearing%20loss%2C%20autosomal%20dominant%2034%2C%20with%20or%20without%20inflammation%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 (187514)</a></div><h3 class="subhead">Prognosis</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/39216091">Inflammation, Cholesterol, Lipoprotein(a), and 30-Year Cardiovascular Outcomes in Women.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ridker PM,
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<div class="nl"><a target="_blank" href="/pubmed/32591853">Epidemiology and burden of sepsis acquired in hospitals and intensive care units: a systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Markwart R,
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<div class="nl"><a target="_blank" href="/pubmed/29149936">Epidemiology and Outcomes.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Tillmann B,
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2018 Jan;34(1):15-27.
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<span class="bold">PMID: </span><a href="/pubmed/29149936" target="_blank">29149936</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28930191">Dietary Inflammatory Index and Colorectal Cancer Risk-A Meta-Analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Shivappa N,
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Godos J,
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2017 Sep 20;9(9)
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<div class="nl"><a target="_blank" href="/pubmed/16424713">Sepsis in European intensive care units: results of the SOAP study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Vincent JL,
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Sakr Y,
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Sprung CL,
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Ranieri VM,
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Reinhart K,
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Gerlach H,
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Moreno R,
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Carlet J,
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Le Gall JR,
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<span class="medgenPMjournal">Crit Care Med</span>
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2006 Feb;34(2):344-53.
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hearing%20loss%2C%20autosomal%20dominant%2034%2C%20with%20or%20without%20inflammation%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 (116096)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/34360768">Inflammation-Related Biomarkers for the Prediction of Prognosis in Colorectal Cancer Patients.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Yamamoto T,
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Obama K</span><br />
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<span class="medgenPMjournal">Int J Mol Sci</span>
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2021 Jul 27;22(15)
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<span class="bold">PMID: </span><a href="/pubmed/34360768" target="_blank">34360768</a><a href="/pmc/articles/PMC8348168" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29954746">Imaging Cardiovascular Calcification.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wang Y,
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Osborne MT,
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Tung B,
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Li M,
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Li Y</span><br />
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<span class="medgenPMjournal">J Am Heart Assoc</span>
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2018 Jun 28;7(13)
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doi: 10.1161/JAHA.118.008564.
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<span class="bold">PMID: </span><a href="/pubmed/29954746" target="_blank">29954746</a><a href="/pmc/articles/PMC6064897" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28639538">Metabolic syndrome: pathophysiology, management, and modulation by natural compounds.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rochlani Y,
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Pothineni NV,
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Kovelamudi S,
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Mehta JL</span><br />
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<span class="medgenPMjournal">Ther Adv Cardiovasc Dis</span>
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2017 Aug;11(8):215-225.
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Epub 2017 Jun 22
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doi: 10.1177/1753944717711379.
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<span class="bold">PMID: </span><a href="/pubmed/28639538" target="_blank">28639538</a><a href="/pmc/articles/PMC5933580" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/24293462">Comorbidities of COPD.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cavaillès A,
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Dixmier A,
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Goupil F,
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Marchand-Adam S,
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<div class="nl"><a target="_blank" href="/pubmed/15915461">Design and validation of a histological scoring system for nonalcoholic fatty liver disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kleiner DE,
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Brunt EM,
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Van Natta M,
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Behling C,
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Contos MJ,
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Ferrell LD,
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Unalp-Arida A,
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Yeh M,
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<span class="medgenPMjournal">Hepatology</span>
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2005 Jun;41(6):1313-21.
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doi: 10.1002/hep.20701.
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<span class="bold">PMID: </span><a href="/pubmed/15915461" target="_blank">15915461</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hearing%20loss%2C%20autosomal%20dominant%2034%2C%20with%20or%20without%20inflammation%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 (157369)</a></div></div>
|
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|
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|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/34968719">Association between knee inflammation and knee pain in patients with knee osteoarthritis: a systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Dainese P,
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Wyngaert KV,
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De Mits S,
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Wittoek R,
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Van Ginckel A,
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Calders P</span><br />
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<span class="medgenPMjournal">Osteoarthritis Cartilage</span>
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2022 Apr;30(4):516-534.
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Epub 2021 Dec 27
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doi: 10.1016/j.joca.2021.12.003.
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<span class="bold">PMID: </span><a href="/pubmed/34968719" target="_blank">34968719</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/31089732">Milk and Dairy Product Consumption and Inflammatory Biomarkers: An Updated Systematic Review of Randomized Clinical Trials.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Ulven SM,
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Holven KB,
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Gil A,
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Rangel-Huerta OD</span><br />
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<span class="medgenPMjournal">Adv Nutr</span>
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2019 May 1;10(suppl_2):S239-S250.
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doi: 10.1093/advances/nmy072.
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<span class="bold">PMID: </span><a href="/pubmed/31089732" target="_blank">31089732</a><a href="/pmc/articles/PMC6518147" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26287637">Dairy products and inflammation: A review of the clinical evidence.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Bordoni A,
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Danesi F,
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Dardevet D,
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Dupont D,
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Fernandez AS,
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Gille D,
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Nunes Dos Santos C,
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Pinto P,
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Re R,
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Rémond D,
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Shahar DR,
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Vergères G</span><br />
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<span class="medgenPMjournal">Crit Rev Food Sci Nutr</span>
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<span class="bold">PMID: </span><a href="/pubmed/26287637" target="_blank">26287637</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/27592340">Inflammation and frailty in the elderly: A systematic review and meta-analysis.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Soysal P,
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Stubbs B,
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Lucato P,
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Luchini C,
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Solmi M,
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Peluso R,
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Sergi G,
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Isik AT,
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Manzato E,
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Maggi S,
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Maggio M,
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Prina AM,
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Cosco TD,
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Wu YT,
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Veronese N</span><br />
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<span class="medgenPMjournal">Ageing Res Rev</span>
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2016 Nov;31:1-8.
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Epub 2016 Aug 31
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doi: 10.1016/j.arr.2016.08.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27592340" target="_blank">27592340</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26140821">Sleep Disturbance, Sleep Duration, and Inflammation: A Systematic Review and Meta-Analysis of Cohort Studies and Experimental Sleep Deprivation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Irwin MR,
|
||
Olmstead R,
|
||
Carroll JE</span><br />
|
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<span class="medgenPMjournal">Biol Psychiatry</span>
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2016 Jul 1;80(1):40-52.
|
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Epub 2015 Jun 1
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doi: 10.1016/j.biopsych.2015.05.014.
|
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<span class="bold">PMID: </span><a href="/pubmed/26140821" target="_blank">26140821</a><a href="/pmc/articles/PMC4666828" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hearing%20loss%2C%20autosomal%20dominant%2034%2C%20with%20or%20without%20inflammation%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (8258)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4521680%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (9)</a></li>
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<li><a href="/gtr/tests?term=C4521680%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (11)</a></li>
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<li><a href="/gtr/tests?term=C4521680%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4521680%5bDISCUI%5d" target="_blank">See all (15)</a></total></li>
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