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<meta name="keywords" content="C5394063, cild44, ciliary dyskinesia, primary, 44, ciliary dyskinesia, primary, 44, without situs inversus, disease or syndrome, nek10, 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="Primary ciliary dyskinesia-44 (CILD44) is an autosomal recessive disorder characterized by recurrent sinopulmonary infections resulting from defective mucociliary clearance. Affected individuals have onset of symptoms in infancy or early childhood, and the repetitive nature of the disorder results in bronchiectasis. Although respiratory epithelial cell motile cilia are shorter than normal and overall ciliary motion is decreased, nasal nitric oxide, radial ciliary structure, and ciliary beat frequency are normal. In addition, patients do not have situs inversus (summary by Chivukula et al., 2020). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1716408
|
||
ConceptID=C5394063
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Ciliary dyskinesia, primary, 44<span class="h1sub">(CILD44)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1716408</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:">C5394063</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>CILIARY DYSKINESIA, PRIMARY, 44, WITHOUT SITUS INVERSUS</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="NEK10 - ID: 152110 - NCBI Gene" href="/gene/152110" class="medgenPMinfo">NEK10</a> (3p24.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0032914" target="_blank">MONDO:0032914</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/618781" target="_blank">618781</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>
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<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">Primary ciliary dyskinesia-44 (CILD44) is an autosomal recessive disorder characterized by recurrent sinopulmonary infections resulting from defective mucociliary clearance. Affected individuals have onset of symptoms in infancy or early childhood, and the repetitive nature of the disorder results in bronchiectasis. Although respiratory epithelial cell motile cilia are shorter than normal and overall ciliary motion is decreased, nasal nitric oxide, radial ciliary structure, and ciliary beat frequency are normal. In addition, patients do not have situs inversus (summary by Chivukula et al., 2020). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
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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_75620"><div><strong>Heterotaxy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75620</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.">C0266642</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75620">Feature record</a> | <a href="/medgen?term=%22Heterotaxy%22%5BClinical%20Features%5D%20OR%2075620%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_14234"><div><strong>Bronchiectasis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14234</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.">C0006267</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/14234">Feature record</a> | <a href="/medgen?term=%22Bronchiectasis%22%5BClinical%20Features%5D%20OR%2014234%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107919"><div><strong>Recurrent sinusitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107919</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.">C0581354</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A recurrent form of sinusitis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107919">Feature record</a> | <a href="/medgen?term=%22Recurrent%20sinusitis%22%5BClinical%20Features%5D%20OR%20107919%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_337630"><div><strong>Reduced forced vital capacity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337630</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.">C1846678</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal reduction in the amount of air a person can expel following maximal inspiration.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337630">Feature record</a> | <a href="/medgen?term=%22Reduced%20forced%20vital%20capacity%22%5BClinical%20Features%5D%20OR%20337630%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_767344"><div><strong>Decreased nasal nitric oxide</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767344</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.">C3554430</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced level of nasal nitric oxide (nNO). Current American Thoracic Society/European Respiratory Society (ATS/ERS) guidelines for nNO measurements recommend air aspiration via a nasal probe while the subject exhales through the mouth against resistance in order to maintain velum closure.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767344">Feature record</a> | <a href="/medgen?term=%22Decreased%20nasal%20nitric%20oxide%22%5BClinical%20Features%5D%20OR%20767344%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_924182"><div><strong>Neonatal respiratory distress</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>924182</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.">C4281993</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Respiratory difficulty as newborn.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/924182">Feature record</a> | <a href="/medgen?term=%22Neonatal%20respiratory%20distress%22%5BClinical%20Features%5D%20OR%20924182%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1687063"><div><strong>Reduced forced expiratory volume in one second</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1687063</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.">C5139283</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal reduction in the amount of air a person can forcefully expel in one second.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1687063">Feature record</a> | <a href="/medgen?term=%22Reduced%20forced%20expiratory%20volume%20in%20one%20second%22%5BClinical%20Features%5D%20OR%201687063%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_45253"><div><strong>Otitis media</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45253</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.">C0029882</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inflammation or infection of the middle ear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/45253">Feature record</a> | <a href="/medgen?term=%22Otitis%20media%22%5BClinical%20Features%5D%20OR%2045253%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868031"><div><strong>Abnormal sweat electrolytes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868031</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.">C4022422</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868031">Feature record</a> | <a href="/medgen?term=%22Abnormal%20sweat%20electrolytes%22%5BClinical%20Features%5D%20OR%20868031%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_868031" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal sweat electrolytes</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_45253" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Otitis media</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_14234" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bronchiectasis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_767344" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased nasal nitric oxide</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_924182" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neonatal respiratory distress</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107919" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent sinusitis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1687063" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced forced expiratory volume in one second</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_337630" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced forced vital capacity</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_75620" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heterotaxy</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/37933800">Fertility care among people with primary ciliary dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schreck LD,
|
||
Goutaki M,
|
||
Jörger P,
|
||
Dexter K,
|
||
Manion M,
|
||
Christin-Maitre S,
|
||
Maitre B;
|
||
COVID-PCD Patient Advisory Group,
|
||
Kuehni CE,
|
||
Pedersen ESL</span><br />
|
||
<span class="medgenPMjournal">Pediatr Pulmonol</span>
|
||
2024 Feb;59(2):281-290.
|
||
Epub 2023 Nov 7
|
||
doi: 10.1002/ppul.26743.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37933800" target="_blank">37933800</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37449771">Treatment response to pulmonary exacerbation in primary ciliary dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gatt D,
|
||
Shaw M,
|
||
Waters V,
|
||
Kritzinger F,
|
||
Solomon M,
|
||
Dell S,
|
||
Ratjen F</span><br />
|
||
<span class="medgenPMjournal">Pediatr Pulmonol</span>
|
||
2023 Oct;58(10):2857-2864.
|
||
Epub 2023 Jul 14
|
||
doi: 10.1002/ppul.26599.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37449771" target="_blank">37449771</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36571235">Using electrical impedance tomography to characterize lung impairment of children with primary ciliary dyskinesia: A pilot cross-sectional study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pensabene M,
|
||
Gambazza S,
|
||
Carta F,
|
||
Rocchi A,
|
||
Lelii M,
|
||
Madini B,
|
||
Hassan V,
|
||
Piotto M,
|
||
Patria MF</span><br />
|
||
<span class="medgenPMjournal">Pediatr Pulmonol</span>
|
||
2023 Apr;58(4):1051-1058.
|
||
Epub 2022 Dec 29
|
||
doi: 10.1002/ppul.26293.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36571235" target="_blank">36571235</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(ciliary%20dyskinesia%2C%20primary%2C%2044)%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 (3)</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/38609095">Objective sputum colour assessment and clinical outcomes in bronchiectasis: data from the European Bronchiectasis Registry (EMBARC).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aliberti S,
|
||
Ringshausen FC,
|
||
Dhar R,
|
||
Haworth CS,
|
||
Loebinger MR,
|
||
Dimakou K,
|
||
Crichton ML,
|
||
De Soyza A,
|
||
Vendrell M,
|
||
Burgel PR,
|
||
McDonnell M,
|
||
Skrgat S,
|
||
Maiz Carro L,
|
||
de Roux A,
|
||
Sibila O,
|
||
Bossios A,
|
||
van der Eerden M,
|
||
Kauppi P,
|
||
Wilson R,
|
||
Milenkovic B,
|
||
Menendez R,
|
||
Murris M,
|
||
Borekci S,
|
||
Munteanu O,
|
||
Obradovic D,
|
||
Nowinski A,
|
||
Amorim A,
|
||
Torres A,
|
||
Lorent N,
|
||
Van Braeckel E,
|
||
Altenburg J,
|
||
Shoemark A,
|
||
Shteinberg M,
|
||
Boersma W,
|
||
Goeminne PC,
|
||
Elborn JS,
|
||
Hill AT,
|
||
Welte T,
|
||
Blasi F,
|
||
Polverino E,
|
||
Chalmers JD;
|
||
EMBARC Registry Investigators</span><br />
|
||
<span class="medgenPMjournal">Eur Respir J</span>
|
||
2024 Apr;63(4)
|
||
Epub 2024 Apr 18
|
||
doi: 10.1183/13993003.01554-2023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38609095" target="_blank">38609095</a><a href="/pmc/articles/PMC11024393" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37933800">Fertility care among people with primary ciliary dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schreck LD,
|
||
Goutaki M,
|
||
Jörger P,
|
||
Dexter K,
|
||
Manion M,
|
||
Christin-Maitre S,
|
||
Maitre B;
|
||
COVID-PCD Patient Advisory Group,
|
||
Kuehni CE,
|
||
Pedersen ESL</span><br />
|
||
<span class="medgenPMjournal">Pediatr Pulmonol</span>
|
||
2024 Feb;59(2):281-290.
|
||
Epub 2023 Nov 7
|
||
doi: 10.1002/ppul.26743.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37933800" target="_blank">37933800</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37449771">Treatment response to pulmonary exacerbation in primary ciliary dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gatt D,
|
||
Shaw M,
|
||
Waters V,
|
||
Kritzinger F,
|
||
Solomon M,
|
||
Dell S,
|
||
Ratjen F</span><br />
|
||
<span class="medgenPMjournal">Pediatr Pulmonol</span>
|
||
2023 Oct;58(10):2857-2864.
|
||
Epub 2023 Jul 14
|
||
doi: 10.1002/ppul.26599.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37449771" target="_blank">37449771</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26167768">An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wheway G,
|
||
Schmidts M,
|
||
Mans DA,
|
||
Szymanska K,
|
||
Nguyen TT,
|
||
Racher H,
|
||
Phelps IG,
|
||
Toedt G,
|
||
Kennedy J,
|
||
Wunderlich KA,
|
||
Sorusch N,
|
||
Abdelhamed ZA,
|
||
Natarajan S,
|
||
Herridge W,
|
||
van Reeuwijk J,
|
||
Horn N,
|
||
Boldt K,
|
||
Parry DA,
|
||
Letteboer SJF,
|
||
Roosing S,
|
||
Adams M,
|
||
Bell SM,
|
||
Bond J,
|
||
Higgins J,
|
||
Morrison EE,
|
||
Tomlinson DC,
|
||
Slaats GG,
|
||
van Dam TJP,
|
||
Huang L,
|
||
Kessler K,
|
||
Giessl A,
|
||
Logan CV,
|
||
Boyle EA,
|
||
Shendure J,
|
||
Anazi S,
|
||
Aldahmesh M,
|
||
Al Hazzaa S,
|
||
Hegele RA,
|
||
Ober C,
|
||
Frosk P,
|
||
Mhanni AA,
|
||
Chodirker BN,
|
||
Chudley AE,
|
||
Lamont R,
|
||
Bernier FP,
|
||
Beaulieu CL,
|
||
Gordon P,
|
||
Pon RT,
|
||
Donahue C,
|
||
Barkovich AJ,
|
||
Wolf L,
|
||
Toomes C,
|
||
Thiel CT,
|
||
Boycott KM,
|
||
McKibbin M,
|
||
Inglehearn CF;
|
||
UK10K Consortium;
|
||
University of Washington Center for Mendelian Genomics,
|
||
Stewart F,
|
||
Omran H,
|
||
Huynen MA,
|
||
Sergouniotis PI,
|
||
Alkuraya FS,
|
||
Parboosingh JS,
|
||
Innes AM,
|
||
Willoughby CE,
|
||
Giles RH,
|
||
Webster AR,
|
||
Ueffing M,
|
||
Blacque O,
|
||
Gleeson JG,
|
||
Wolfrum U,
|
||
Beales PL,
|
||
Gibson T,
|
||
Doherty D,
|
||
Mitchison HM,
|
||
Roepman R,
|
||
Johnson CA</span><br />
|
||
<span class="medgenPMjournal">Nat Cell Biol</span>
|
||
2015 Aug;17(8):1074-1087.
|
||
Epub 2015 Jul 13
|
||
doi: 10.1038/ncb3201.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26167768" target="_blank">26167768</a><a href="/pmc/articles/PMC4536769" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12162599">Primary ciliary dyskinesia: age at diagnosis and symptom history.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coren ME,
|
||
Meeks M,
|
||
Morrison I,
|
||
Buchdahl RM,
|
||
Bush A</span><br />
|
||
<span class="medgenPMjournal">Acta Paediatr</span>
|
||
2002;91(6):667-9.
|
||
doi: 10.1080/080352502760069089.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12162599" target="_blank">12162599</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ciliary%20dyskinesia%2C%20primary%2C%2044%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 (27)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39048631">Recognizing clinical features of primary ciliary dyskinesia in the perinatal period.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mapala L,
|
||
Kumar M,
|
||
Canakis AM,
|
||
Hailu E,
|
||
Kopel LS,
|
||
Shapiro AJ</span><br />
|
||
<span class="medgenPMjournal">J Perinatol</span>
|
||
2024 Nov;44(11):1700-1706.
|
||
Epub 2024 Jul 24
|
||
doi: 10.1038/s41372-024-02068-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39048631" target="_blank">39048631</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38609095">Objective sputum colour assessment and clinical outcomes in bronchiectasis: data from the European Bronchiectasis Registry (EMBARC).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aliberti S,
|
||
Ringshausen FC,
|
||
Dhar R,
|
||
Haworth CS,
|
||
Loebinger MR,
|
||
Dimakou K,
|
||
Crichton ML,
|
||
De Soyza A,
|
||
Vendrell M,
|
||
Burgel PR,
|
||
McDonnell M,
|
||
Skrgat S,
|
||
Maiz Carro L,
|
||
de Roux A,
|
||
Sibila O,
|
||
Bossios A,
|
||
van der Eerden M,
|
||
Kauppi P,
|
||
Wilson R,
|
||
Milenkovic B,
|
||
Menendez R,
|
||
Murris M,
|
||
Borekci S,
|
||
Munteanu O,
|
||
Obradovic D,
|
||
Nowinski A,
|
||
Amorim A,
|
||
Torres A,
|
||
Lorent N,
|
||
Van Braeckel E,
|
||
Altenburg J,
|
||
Shoemark A,
|
||
Shteinberg M,
|
||
Boersma W,
|
||
Goeminne PC,
|
||
Elborn JS,
|
||
Hill AT,
|
||
Welte T,
|
||
Blasi F,
|
||
Polverino E,
|
||
Chalmers JD;
|
||
EMBARC Registry Investigators</span><br />
|
||
<span class="medgenPMjournal">Eur Respir J</span>
|
||
2024 Apr;63(4)
|
||
Epub 2024 Apr 18
|
||
doi: 10.1183/13993003.01554-2023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38609095" target="_blank">38609095</a><a href="/pmc/articles/PMC11024393" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35149751">Transmission electron microscopy study of suspected primary ciliary dyskinesia patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rezaei M,
|
||
Soheili A,
|
||
Ziai SA,
|
||
Fakharian A,
|
||
Toreyhi H,
|
||
Pourabdollah M,
|
||
Ghorbani J,
|
||
Karimi-Galougahi M,
|
||
Mahdaviani SA,
|
||
Hasanzad M,
|
||
Eslaminejad A,
|
||
Ghaffaripour HA,
|
||
Mahmoudian S,
|
||
Rodafshani Z,
|
||
Mirenayat MS,
|
||
Varahram M,
|
||
Marjani M,
|
||
Tabarsi P,
|
||
Mansouri D,
|
||
Jamaati HR,
|
||
Velayati AA</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2022 Feb 11;12(1):2375.
|
||
doi: 10.1038/s41598-022-06370-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35149751" target="_blank">35149751</a><a href="/pmc/articles/PMC8837606" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32253119">Implementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baz-Redón N,
|
||
Rovira-Amigo S,
|
||
Paramonov I,
|
||
Castillo-Corullón S,
|
||
Cols Roig M,
|
||
Antolín M,
|
||
García Arumí E,
|
||
Torrent-Vernetta A,
|
||
de Mir Messa I,
|
||
Gartner S,
|
||
Iglesias Serrano I,
|
||
Caballero-Rabasco MA,
|
||
Asensio de la Cruz Ó,
|
||
Vizmanos-Lamotte G,
|
||
Martín de Vicente C,
|
||
Martínez-Colls MDM,
|
||
Reula A,
|
||
Escribano A,
|
||
Dasí F,
|
||
Armengot-Carceller M,
|
||
Polverino E,
|
||
Amengual Pieras E,
|
||
Amaro-Rodríguez R,
|
||
Garrido-Pontnou M,
|
||
Tizzano E,
|
||
Camats-Tarruella N,
|
||
Fernández-Cancio M,
|
||
Moreno-Galdó A</span><br />
|
||
<span class="medgenPMjournal">Arch Bronconeumol (Engl Ed)</span>
|
||
2021 Mar;57(3):186-194.
|
||
Epub 2020 Apr 3
|
||
doi: 10.1016/j.arbres.2020.02.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32253119" target="_blank">32253119</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19410200">Primary ciliary dyskinesia: when to suspect the diagnosis and how to confirm it.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hogg C</span><br />
|
||
<span class="medgenPMjournal">Paediatr Respir Rev</span>
|
||
2009 Jun;10(2):44-50.
|
||
Epub 2009 Apr 9
|
||
doi: 10.1016/j.prrv.2008.10.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19410200" target="_blank">19410200</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ciliary%20dyskinesia%2C%20primary%2C%2044%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 (34)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37449771">Treatment response to pulmonary exacerbation in primary ciliary dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gatt D,
|
||
Shaw M,
|
||
Waters V,
|
||
Kritzinger F,
|
||
Solomon M,
|
||
Dell S,
|
||
Ratjen F</span><br />
|
||
<span class="medgenPMjournal">Pediatr Pulmonol</span>
|
||
2023 Oct;58(10):2857-2864.
|
||
Epub 2023 Jul 14
|
||
doi: 10.1002/ppul.26599.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37449771" target="_blank">37449771</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31559717">Nasal nitric oxide levels in primary ciliary dyskinesia, cystic fibrosis and healthy children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Güney E,
|
||
Emiralioğlu N,
|
||
Cinel G,
|
||
Yalçın E,
|
||
Doğru D,
|
||
Kiper N,
|
||
Özçelik HU</span><br />
|
||
<span class="medgenPMjournal">Turk J Pediatr</span>
|
||
2019;61(1):20-25.
|
||
doi: 10.24953/turkjped.2019.01.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31559717" target="_blank">31559717</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25673230">Lung structure-function correlation in patients with primary ciliary dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boon M,
|
||
Vermeulen FL,
|
||
Gysemans W,
|
||
Proesmans M,
|
||
Jorissen M,
|
||
De Boeck K</span><br />
|
||
<span class="medgenPMjournal">Thorax</span>
|
||
2015 Apr;70(4):339-45.
|
||
Epub 2015 Feb 11
|
||
doi: 10.1136/thoraxjnl-2014-206578.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25673230" target="_blank">25673230</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23948769">Causes and imaging patterns of tree-in-bud opacities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miller WT Jr,
|
||
Panosian JS</span><br />
|
||
<span class="medgenPMjournal">Chest</span>
|
||
2013 Dec;144(6):1883-1892.
|
||
doi: 10.1378/chest.13-1270.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23948769" target="_blank">23948769</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9657584">Airway response of children with primary ciliary dyskinesia to exercise and beta2-agonist challenge.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Phillips GE,
|
||
Thomas S,
|
||
Heather S,
|
||
Bush A</span><br />
|
||
<span class="medgenPMjournal">Eur Respir J</span>
|
||
1998 Jun;11(6):1389-91.
|
||
doi: 10.1183/09031936.98.11061389.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9657584" target="_blank">9657584</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ciliary%20dyskinesia%2C%20primary%2C%2044%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 (9)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39221856">Lung ultrasound in children with primary ciliary dyskinesia or cystic fibrosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marzook N,
|
||
Dubrovsky AS,
|
||
Muchantef K,
|
||
Zielinski D,
|
||
Lands LC,
|
||
Shapiro AJ</span><br />
|
||
<span class="medgenPMjournal">Pediatr Pulmonol</span>
|
||
2024 Dec;59(12):3391-3399.
|
||
Epub 2024 Sep 2
|
||
doi: 10.1002/ppul.27215.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39221856" target="_blank">39221856</a><a href="/pmc/articles/PMC11601007" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37449771">Treatment response to pulmonary exacerbation in primary ciliary dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gatt D,
|
||
Shaw M,
|
||
Waters V,
|
||
Kritzinger F,
|
||
Solomon M,
|
||
Dell S,
|
||
Ratjen F</span><br />
|
||
<span class="medgenPMjournal">Pediatr Pulmonol</span>
|
||
2023 Oct;58(10):2857-2864.
|
||
Epub 2023 Jul 14
|
||
doi: 10.1002/ppul.26599.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37449771" target="_blank">37449771</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37096790">Risk factors for the deterioration of pulmonary function in primary ciliary dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fein V,
|
||
Maier C,
|
||
Schlegtendal A,
|
||
Denz R,
|
||
Koerner-Rettberg C,
|
||
Brinkmann F</span><br />
|
||
<span class="medgenPMjournal">Pediatr Pulmonol</span>
|
||
2023 Jul;58(7):1950-1958.
|
||
Epub 2023 Apr 25
|
||
doi: 10.1002/ppul.26417.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37096790" target="_blank">37096790</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36571235">Using electrical impedance tomography to characterize lung impairment of children with primary ciliary dyskinesia: A pilot cross-sectional study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pensabene M,
|
||
Gambazza S,
|
||
Carta F,
|
||
Rocchi A,
|
||
Lelii M,
|
||
Madini B,
|
||
Hassan V,
|
||
Piotto M,
|
||
Patria MF</span><br />
|
||
<span class="medgenPMjournal">Pediatr Pulmonol</span>
|
||
2023 Apr;58(4):1051-1058.
|
||
Epub 2022 Dec 29
|
||
doi: 10.1002/ppul.26293.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36571235" target="_blank">36571235</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12162599">Primary ciliary dyskinesia: age at diagnosis and symptom history.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coren ME,
|
||
Meeks M,
|
||
Morrison I,
|
||
Buchdahl RM,
|
||
Bush A</span><br />
|
||
<span class="medgenPMjournal">Acta Paediatr</span>
|
||
2002;91(6):667-9.
|
||
doi: 10.1080/080352502760069089.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12162599" target="_blank">12162599</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ciliary%20dyskinesia%2C%20primary%2C%2044%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 (10)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39221856">Lung ultrasound in children with primary ciliary dyskinesia or cystic fibrosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marzook N,
|
||
Dubrovsky AS,
|
||
Muchantef K,
|
||
Zielinski D,
|
||
Lands LC,
|
||
Shapiro AJ</span><br />
|
||
<span class="medgenPMjournal">Pediatr Pulmonol</span>
|
||
2024 Dec;59(12):3391-3399.
|
||
Epub 2024 Sep 2
|
||
doi: 10.1002/ppul.27215.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39221856" target="_blank">39221856</a><a href="/pmc/articles/PMC11601007" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38609095">Objective sputum colour assessment and clinical outcomes in bronchiectasis: data from the European Bronchiectasis Registry (EMBARC).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aliberti S,
|
||
Ringshausen FC,
|
||
Dhar R,
|
||
Haworth CS,
|
||
Loebinger MR,
|
||
Dimakou K,
|
||
Crichton ML,
|
||
De Soyza A,
|
||
Vendrell M,
|
||
Burgel PR,
|
||
McDonnell M,
|
||
Skrgat S,
|
||
Maiz Carro L,
|
||
de Roux A,
|
||
Sibila O,
|
||
Bossios A,
|
||
van der Eerden M,
|
||
Kauppi P,
|
||
Wilson R,
|
||
Milenkovic B,
|
||
Menendez R,
|
||
Murris M,
|
||
Borekci S,
|
||
Munteanu O,
|
||
Obradovic D,
|
||
Nowinski A,
|
||
Amorim A,
|
||
Torres A,
|
||
Lorent N,
|
||
Van Braeckel E,
|
||
Altenburg J,
|
||
Shoemark A,
|
||
Shteinberg M,
|
||
Boersma W,
|
||
Goeminne PC,
|
||
Elborn JS,
|
||
Hill AT,
|
||
Welte T,
|
||
Blasi F,
|
||
Polverino E,
|
||
Chalmers JD;
|
||
EMBARC Registry Investigators</span><br />
|
||
<span class="medgenPMjournal">Eur Respir J</span>
|
||
2024 Apr;63(4)
|
||
Epub 2024 Apr 18
|
||
doi: 10.1183/13993003.01554-2023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38609095" target="_blank">38609095</a><a href="/pmc/articles/PMC11024393" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37449771">Treatment response to pulmonary exacerbation in primary ciliary dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gatt D,
|
||
Shaw M,
|
||
Waters V,
|
||
Kritzinger F,
|
||
Solomon M,
|
||
Dell S,
|
||
Ratjen F</span><br />
|
||
<span class="medgenPMjournal">Pediatr Pulmonol</span>
|
||
2023 Oct;58(10):2857-2864.
|
||
Epub 2023 Jul 14
|
||
doi: 10.1002/ppul.26599.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37449771" target="_blank">37449771</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34133086">Evaluation of age at diagnosis and clinical findings of children with primary ciliary dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Asfuroglu P,
|
||
Ramasli Gursoy T,
|
||
Sismanlar Eyuboglu T,
|
||
Aslan AT</span><br />
|
||
<span class="medgenPMjournal">Pediatr Pulmonol</span>
|
||
2021 Aug;56(8):2717-2723.
|
||
Epub 2021 Jun 21
|
||
doi: 10.1002/ppul.25533.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34133086" target="_blank">34133086</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26167768">An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wheway G,
|
||
Schmidts M,
|
||
Mans DA,
|
||
Szymanska K,
|
||
Nguyen TT,
|
||
Racher H,
|
||
Phelps IG,
|
||
Toedt G,
|
||
Kennedy J,
|
||
Wunderlich KA,
|
||
Sorusch N,
|
||
Abdelhamed ZA,
|
||
Natarajan S,
|
||
Herridge W,
|
||
van Reeuwijk J,
|
||
Horn N,
|
||
Boldt K,
|
||
Parry DA,
|
||
Letteboer SJF,
|
||
Roosing S,
|
||
Adams M,
|
||
Bell SM,
|
||
Bond J,
|
||
Higgins J,
|
||
Morrison EE,
|
||
Tomlinson DC,
|
||
Slaats GG,
|
||
van Dam TJP,
|
||
Huang L,
|
||
Kessler K,
|
||
Giessl A,
|
||
Logan CV,
|
||
Boyle EA,
|
||
Shendure J,
|
||
Anazi S,
|
||
Aldahmesh M,
|
||
Al Hazzaa S,
|
||
Hegele RA,
|
||
Ober C,
|
||
Frosk P,
|
||
Mhanni AA,
|
||
Chodirker BN,
|
||
Chudley AE,
|
||
Lamont R,
|
||
Bernier FP,
|
||
Beaulieu CL,
|
||
Gordon P,
|
||
Pon RT,
|
||
Donahue C,
|
||
Barkovich AJ,
|
||
Wolf L,
|
||
Toomes C,
|
||
Thiel CT,
|
||
Boycott KM,
|
||
McKibbin M,
|
||
Inglehearn CF;
|
||
UK10K Consortium;
|
||
University of Washington Center for Mendelian Genomics,
|
||
Stewart F,
|
||
Omran H,
|
||
Huynen MA,
|
||
Sergouniotis PI,
|
||
Alkuraya FS,
|
||
Parboosingh JS,
|
||
Innes AM,
|
||
Willoughby CE,
|
||
Giles RH,
|
||
Webster AR,
|
||
Ueffing M,
|
||
Blacque O,
|
||
Gleeson JG,
|
||
Wolfrum U,
|
||
Beales PL,
|
||
Gibson T,
|
||
Doherty D,
|
||
Mitchison HM,
|
||
Roepman R,
|
||
Johnson CA</span><br />
|
||
<span class="medgenPMjournal">Nat Cell Biol</span>
|
||
2015 Aug;17(8):1074-1087.
|
||
Epub 2015 Jul 13
|
||
doi: 10.1038/ncb3201.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26167768" target="_blank">26167768</a><a href="/pmc/articles/PMC4536769" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ciliary%20dyskinesia%2C%20primary%2C%2044%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 (20)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<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>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/33272932">Therapeutic effect of nebulized hypertonic saline for muco-obstructive lung diseases: a systematic review and meta-analysis with trial sequential analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Y,
|
||
Song A,
|
||
Liu J,
|
||
Dai J,
|
||
Lin J</span><br />
|
||
<span class="medgenPMjournal">J Investig Med</span>
|
||
2021 Mar;69(3):742-748.
|
||
Epub 2020 Dec 3
|
||
doi: 10.1136/jim-2020-001479.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33272932" target="_blank">33272932</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25323224">Nasal nitric oxide screening for primary ciliary dyskinesia: systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Collins SA,
|
||
Gove K,
|
||
Walker W,
|
||
Lucas JS</span><br />
|
||
<span class="medgenPMjournal">Eur Respir J</span>
|
||
2014 Dec;44(6):1589-99.
|
||
Epub 2014 Oct 16
|
||
doi: 10.1183/09031936.00088614.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25323224" target="_blank">25323224</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ciliary%20dyskinesia%2C%20primary%2C%2044%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 (2)</a></div></div>
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5394063%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (5)</a></li>
|
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<li><a href="/gtr/tests?term=C5394063%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
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<li><a href="/gtr/tests?term=C5394063%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (5)</a></li>
|
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<li><a href="/gtr/tests?term=C5394063%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5394063%5bDISCUI%5d" target="_blank">See all (5)</a></total></li>
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