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<meta name="keywords" content="C3280574, csf2rb, csf2rb deficiency, csf2rb hereditary pulmonary alveolar proteinosis, disease or syndrome, hereditary pulmonary alveolar proteinosis caused by mutation in csf2rb, pap due to csf2rb deficiency, pulmonary alveolar proteinosis 5, smdp5, surfactant metabolism dysfunction, pulmonary, 5, surfactant metabolism dysfunction, pulmonary, type 5, 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="Pulmonary surfactant metabolism dysfunction-5 (SMDP5) is an autosomal recessive lung disorder manifest clinically and pathologically as pulmonary alveolar proteinosis (PAP). PAP is a rare lung disease characterized by the ineffective clearance of surfactant by alveolar macrophages. This results in the accumulation of surfactant-derived lipoproteinaceous material in the alveoli and terminal bronchioles, causing respiratory failure (summary by Greenhill and Kotton, 2009). For a general phenotypic description and a discussion of genetic heterogeneity of pulmonary surfactant metabolism dysfunction, see SMDP1 (265120)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=482204
|
||
ConceptID=C3280574
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Surfactant metabolism dysfunction, pulmonary, 5<span class="h1sub">(SMDP5)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482204</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:">C3280574</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>CSF2RB DEFICIENCY; PAP DUE TO CSF2RB DEFICIENCY; PULMONARY ALVEOLAR PROTEINOSIS 5; SMDP5</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="CSF2RB - ID: 1439 - NCBI Gene" href="/gene/1439" class="medgenPMinfo">CSF2RB</a> (22q12.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013712" target="_blank">MONDO:0013712</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/614370" target="_blank">614370</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">Pulmonary surfactant metabolism dysfunction-5 (SMDP5) is an autosomal recessive lung disorder manifest clinically and pathologically as pulmonary alveolar proteinosis (PAP). PAP is a rare lung disease characterized by the ineffective clearance of surfactant by alveolar macrophages. This results in the accumulation of surfactant-derived lipoproteinaceous material in the alveoli and terminal bronchioles, causing respiratory failure (summary by Greenhill and Kotton, 2009). For a general phenotypic description and a discussion of genetic heterogeneity of pulmonary surfactant metabolism dysfunction, see SMDP1 (265120). [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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||
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<div class="portlet mgSection" id="ID_117">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />There are several types of surfactant dysfunction, which are identified by the genetic cause of the condition. One type, called SP-B deficiency, causes respiratory distress syndrome in newborns. Other types, known as SP-C dysfunction and ABCA3 deficiency, have signs and symptoms that range from mild to severe.<br /><br />Less severe forms of surfactant dysfunction cause gradual onset of breathing problems in children or adults. Signs and symptoms of these milder forms are abnormally rapid breathing (tachypnea); low concentrations of oxygen in the blood (hypoxemia); and an inability to grow or gain weight at the expected rate (failure to thrive).<br /><br />The signs and symptoms of surfactant dysfunction can vary in severity. The most severe form of this condition causes respiratory distress syndrome in newborns. Affected babies have extreme difficulty breathing and are unable to get enough oxygen. The lack of oxygen can damage the baby's brain and other organs. This syndrome leads to respiratory failure, and most babies with this form of the condition do not survive more than a few months.<br /><br />Surfactant dysfunction is a lung disorder that causes breathing problems. This condition results from abnormalities in the composition or function of surfactant, a mixture of certain fats (called phospholipids) and proteins that lines the lung tissue and makes breathing easy. Without normal surfactant, the tissue surrounding the air sacs in the lungs (the alveoli) sticks together (because of a force called surface tension) after exhalation, causing the alveoli to collapse. As a result, filling the lungs with air on each breath becomes very difficult, and the delivery of oxygen to the body is impaired. <a target="_blank" href="https://medlineplus.gov/genetics/condition/surfactant-dysfunction">https://medlineplus.gov/genetics/condition/surfactant-dysfunction</a></div></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_3938"><div><strong>Dyspnea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3938</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.">C0013404</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3938">Feature record</a> | <a href="/medgen?term=%22Dyspnea%22%5BClinical%20Features%5D%20OR%203938%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11197"><div><strong>Respiratory insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11197</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.">C0035229</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impairment of gas exchange within the lungs secondary to a disease process, neoplasm, or trauma, possibly resulting in hypoxia, hypercarbia, or both, but not requiring intubation or mechanical ventilation. Patients are normally managed with pharmaceutical therapy, supplemental oxygen, or both.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11197">Feature record</a> | <a href="/medgen?term=%22Respiratory%20insufficiency%22%5BClinical%20Features%5D%20OR%2011197%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68549"><div><strong>Exertional dyspnea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68549</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.">C0231807</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68549">Feature record</a> | <a href="/medgen?term=%22Exertional%20dyspnea%22%5BClinical%20Features%5D%20OR%2068549%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1763046"><div><strong>Pulmonary alveolar proteinosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1763046</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.">C5400698</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Accumulation of amorphous PAS-positive material in the space between alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1763046">Feature record</a> | <a href="/medgen?term=%22Pulmonary%20alveolar%20proteinosis%22%5BClinical%20Features%5D%20OR%201763046%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1779663"><div><strong>Ground-glass opacification</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1779663</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.">C5539411</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within which margins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1779663">Feature record</a> | <a href="/medgen?term=%22Ground-glass%20opacification%22%5BClinical%20Features%5D%20OR%201779663%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1779791"><div><strong>Interlobular septal thickening</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1779791</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.">C5539418</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Presence of thickening of the interlobular septa of the lungs as seen on a CT scan.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1779791">Feature record</a> | <a href="/medgen?term=%22Interlobular%20septal%20thickening%22%5BClinical%20Features%5D%20OR%201779791%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1640956"><div><strong>Anti-granulocyte-macrophage colony stimulating factor antibody positivity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1640956</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.">C4703382</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of autoantibodies in the serum that react against granulocyte-macrophage colony stimulating factor.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1640956">Feature record</a> | <a href="/medgen?term=%22Anti-granulocyte-macrophage%20colony%20stimulating%20factor%20antibody%20positivity%22%5BClinical%20Features%5D%20OR%201640956%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 the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1640956" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anti-granulocyte-macrophage colony stimulating factor antibody positivity</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_3938" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyspnea</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68549" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Exertional dyspnea</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1779663" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ground-glass opacification</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1779791" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Interlobular septal thickening</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1763046" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary alveolar proteinosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11197" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Respiratory insufficiency</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/36262981">Profound Effect of Pulmonary Surfactant on the Treatment of Preterm Infants with Respiratory Distress Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu L,
|
||
Deng Q</span><br />
|
||
<span class="medgenPMjournal">Contrast Media Mol Imaging</span>
|
||
2022;2022:4166994.
|
||
Epub 2022 Oct 3
|
||
doi: 10.1155/2022/4166994.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36262981" target="_blank">36262981</a><a href="/pmc/articles/PMC9550487" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27225960">Considerations in the management of hypoxemic respiratory failure and persistent pulmonary hypertension in term and late preterm neonates.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lakshminrusimha S,
|
||
Konduri GG,
|
||
Steinhorn RH</span><br />
|
||
<span class="medgenPMjournal">J Perinatol</span>
|
||
2016 Jun;36 Suppl 2:S12-9.
|
||
doi: 10.1038/jp.2016.44.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27225960" target="_blank">27225960</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19561506">Alveolar proteinosis syndrome: pathogenesis, diagnosis, and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huizar I,
|
||
Kavuru MS</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Pulm Med</span>
|
||
2009 Sep;15(5):491-8.
|
||
doi: 10.1097/MCP.0b013e32832ea51c.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19561506" target="_blank">19561506</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(surfactant%20metabolism%20dysfunction%2C%20pulmonary%2C%205)%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 (14)</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/38366632">Multiple serum biomarkers associate with mortality and interstitial lung disease progression in systemic sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Parker MJS,
|
||
Jee AS,
|
||
Hansen D,
|
||
Proudman S,
|
||
Youssef P,
|
||
Kenna TJ,
|
||
Stevens W,
|
||
Nikpour M,
|
||
Sahhar J,
|
||
Corte TJ</span><br />
|
||
<span class="medgenPMjournal">Rheumatology (Oxford)</span>
|
||
2024 Nov 1;63(11):2981-2988.
|
||
doi: 10.1093/rheumatology/keae110.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38366632" target="_blank">38366632</a><a href="/pmc/articles/PMC11534140" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32897035">Inhaled Molgramostim Therapy in Autoimmune Pulmonary Alveolar Proteinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Trapnell BC,
|
||
Inoue Y,
|
||
Bonella F,
|
||
Morgan C,
|
||
Jouneau S,
|
||
Bendstrup E,
|
||
Campo I,
|
||
Papiris SA,
|
||
Yamaguchi E,
|
||
Cetinkaya E,
|
||
Ilkovich MM,
|
||
Kramer MR,
|
||
Veltkamp M,
|
||
Kreuter M,
|
||
Baba T,
|
||
Ganslandt C,
|
||
Tarnow I,
|
||
Waterer G,
|
||
Jouhikainen T;
|
||
IMPALA Trial Investigators</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2020 Oct 22;383(17):1635-1644.
|
||
Epub 2020 Sep 7
|
||
doi: 10.1056/NEJMoa1913590.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32897035" target="_blank">32897035</a><a href="/pmc/articles/PMC8083051" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30846703">Pulmonary alveolar proteinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Trapnell BC,
|
||
Nakata K,
|
||
Bonella F,
|
||
Campo I,
|
||
Griese M,
|
||
Hamilton J,
|
||
Wang T,
|
||
Morgan C,
|
||
Cottin V,
|
||
McCarthy C</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2019 Mar 7;5(1):16.
|
||
doi: 10.1038/s41572-019-0066-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30846703" target="_blank">30846703</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15269312">Higher versus lower positive end-expiratory pressures in patients with the acute respiratory distress syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brower RG,
|
||
Lanken PN,
|
||
MacIntyre N,
|
||
Matthay MA,
|
||
Morris A,
|
||
Ancukiewicz M,
|
||
Schoenfeld D,
|
||
Thompson BT;
|
||
National Heart, Lung, and Blood Institute ARDS Clinical Trials Network</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2004 Jul 22;351(4):327-36.
|
||
doi: 10.1056/NEJMoa032193.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15269312" target="_blank">15269312</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10220702">The role of cardiopulmonary bypass and surfactant in pulmonary decompensation after surgery for congenital heart disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paul DA,
|
||
Greenspan JS,
|
||
Davis DA,
|
||
Russo P,
|
||
Antunes MJ</span><br />
|
||
<span class="medgenPMjournal">J Thorac Cardiovasc Surg</span>
|
||
1999 May;117(5):1025-6.
|
||
doi: 10.1016/S0022-5223(99)70388-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10220702" target="_blank">10220702</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Surfactant%20metabolism%20dysfunction%2C%20pulmonary%2C%205%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 (166)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30846703">Pulmonary alveolar proteinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Trapnell BC,
|
||
Nakata K,
|
||
Bonella F,
|
||
Campo I,
|
||
Griese M,
|
||
Hamilton J,
|
||
Wang T,
|
||
Morgan C,
|
||
Cottin V,
|
||
McCarthy C</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2019 Mar 7;5(1):16.
|
||
doi: 10.1038/s41572-019-0066-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30846703" target="_blank">30846703</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26508177">New ATP-binding cassette A3 mutation causing surfactant metabolism dysfunction pulmonary type 3.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Piersigilli F,
|
||
Peca D,
|
||
Campi F,
|
||
Corsello M,
|
||
Landolfo F,
|
||
Boldrini R,
|
||
Danhaive O,
|
||
Dotta A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Int</span>
|
||
2015 Oct;57(5):970-4.
|
||
Epub 2015 Aug 19
|
||
doi: 10.1111/ped.12673.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26508177" target="_blank">26508177</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23001804">Pulmonary alveolar proteinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang T,
|
||
Lazar CA,
|
||
Fishbein MC,
|
||
Lynch JP 3rd</span><br />
|
||
<span class="medgenPMjournal">Semin Respir Crit Care Med</span>
|
||
2012 Oct;33(5):498-508.
|
||
Epub 2012 Sep 21
|
||
doi: 10.1055/s-0032-1325160.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23001804" target="_blank">23001804</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9499810">Surfactant: a review of its functions and relevance in adult respiratory disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hamm H,
|
||
Kroegel C,
|
||
Hohlfeld J</span><br />
|
||
<span class="medgenPMjournal">Respir Med</span>
|
||
1996 May;90(5):251-70.
|
||
doi: 10.1016/s0954-6111(96)90097-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9499810" target="_blank">9499810</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8936652">Pathophysiology of congenital diaphragmatic hernia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nobuhara KK,
|
||
Wilson JM</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Surg</span>
|
||
1996 Nov;5(4):234-42.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8936652" target="_blank">8936652</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Surfactant%20metabolism%20dysfunction%2C%20pulmonary%2C%205%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 (65)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34737187">Liraglutide Improves Forced Vital Capacity in Individuals With Type 2 Diabetes: Data From the Randomized Crossover LIRALUNG Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">López-Cano C,
|
||
Ciudin A,
|
||
Sánchez E,
|
||
Tinahones FJ,
|
||
Barbé F,
|
||
Dalmases M,
|
||
García-Ramírez M,
|
||
Soto A,
|
||
Gaeta AM,
|
||
Pellitero S,
|
||
Martí R,
|
||
Hernández C,
|
||
Simó R,
|
||
Lecube A</span><br />
|
||
<span class="medgenPMjournal">Diabetes</span>
|
||
2022 Feb 1;71(2):315-320.
|
||
doi: 10.2337/db21-0688.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34737187" target="_blank">34737187</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32897035">Inhaled Molgramostim Therapy in Autoimmune Pulmonary Alveolar Proteinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Trapnell BC,
|
||
Inoue Y,
|
||
Bonella F,
|
||
Morgan C,
|
||
Jouneau S,
|
||
Bendstrup E,
|
||
Campo I,
|
||
Papiris SA,
|
||
Yamaguchi E,
|
||
Cetinkaya E,
|
||
Ilkovich MM,
|
||
Kramer MR,
|
||
Veltkamp M,
|
||
Kreuter M,
|
||
Baba T,
|
||
Ganslandt C,
|
||
Tarnow I,
|
||
Waterer G,
|
||
Jouhikainen T;
|
||
IMPALA Trial Investigators</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2020 Oct 22;383(17):1635-1644.
|
||
Epub 2020 Sep 7
|
||
doi: 10.1056/NEJMoa1913590.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32897035" target="_blank">32897035</a><a href="/pmc/articles/PMC8083051" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23001804">Pulmonary alveolar proteinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang T,
|
||
Lazar CA,
|
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Fishbein MC,
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Lynch JP 3rd</span><br />
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<span class="medgenPMjournal">Semin Respir Crit Care Med</span>
|
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2012 Oct;33(5):498-508.
|
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Epub 2012 Sep 21
|
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doi: 10.1055/s-0032-1325160.
|
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<span class="bold">PMID: </span><a href="/pubmed/23001804" target="_blank">23001804</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15269312">Higher versus lower positive end-expiratory pressures in patients with the acute respiratory distress syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brower RG,
|
||
Lanken PN,
|
||
MacIntyre N,
|
||
Matthay MA,
|
||
Morris A,
|
||
Ancukiewicz M,
|
||
Schoenfeld D,
|
||
Thompson BT;
|
||
National Heart, Lung, and Blood Institute ARDS Clinical Trials Network</span><br />
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<span class="medgenPMjournal">N Engl J Med</span>
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2004 Jul 22;351(4):327-36.
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|
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<span class="bold">PMID: </span><a href="/pubmed/15269312" target="_blank">15269312</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9499810">Surfactant: a review of its functions and relevance in adult respiratory disorders.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Hamm H,
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Kroegel C,
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Hohlfeld J</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/9499810" target="_blank">9499810</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Surfactant%20metabolism%20dysfunction%2C%20pulmonary%2C%205%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 (152)</a></div><h3 class="subhead">Prognosis</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/38366632">Multiple serum biomarkers associate with mortality and interstitial lung disease progression in systemic sclerosis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Parker MJS,
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Jee AS,
|
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Hansen D,
|
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Proudman S,
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Youssef P,
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Kenna TJ,
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Stevens W,
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Nikpour M,
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Sahhar J,
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Corte TJ</span><br />
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<span class="medgenPMjournal">Rheumatology (Oxford)</span>
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|
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doi: 10.1093/rheumatology/keae110.
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<span class="bold">PMID: </span><a href="/pubmed/38366632" target="_blank">38366632</a><a href="/pmc/articles/PMC11534140" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/34737187">Liraglutide Improves Forced Vital Capacity in Individuals With Type 2 Diabetes: Data From the Randomized Crossover LIRALUNG Study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">López-Cano C,
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Ciudin A,
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Sánchez E,
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Tinahones FJ,
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Barbé F,
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Dalmases M,
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García-Ramírez M,
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Soto A,
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Gaeta AM,
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Pellitero S,
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Martí R,
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Hernández C,
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Simó R,
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Lecube A</span><br />
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<span class="medgenPMjournal">Diabetes</span>
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2022 Feb 1;71(2):315-320.
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||
doi: 10.2337/db21-0688.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34737187" target="_blank">34737187</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23001804">Pulmonary alveolar proteinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang T,
|
||
Lazar CA,
|
||
Fishbein MC,
|
||
Lynch JP 3rd</span><br />
|
||
<span class="medgenPMjournal">Semin Respir Crit Care Med</span>
|
||
2012 Oct;33(5):498-508.
|
||
Epub 2012 Sep 21
|
||
doi: 10.1055/s-0032-1325160.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23001804" target="_blank">23001804</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15269312">Higher versus lower positive end-expiratory pressures in patients with the acute respiratory distress syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brower RG,
|
||
Lanken PN,
|
||
MacIntyre N,
|
||
Matthay MA,
|
||
Morris A,
|
||
Ancukiewicz M,
|
||
Schoenfeld D,
|
||
Thompson BT;
|
||
National Heart, Lung, and Blood Institute ARDS Clinical Trials Network</span><br />
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<span class="medgenPMjournal">N Engl J Med</span>
|
||
2004 Jul 22;351(4):327-36.
|
||
doi: 10.1056/NEJMoa032193.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15269312" target="_blank">15269312</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10220702">The role of cardiopulmonary bypass and surfactant in pulmonary decompensation after surgery for congenital heart disease.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Paul DA,
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Greenspan JS,
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Davis DA,
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Russo P,
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Antunes MJ</span><br />
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<span class="medgenPMjournal">J Thorac Cardiovasc Surg</span>
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1999 May;117(5):1025-6.
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doi: 10.1016/S0022-5223(99)70388-0.
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<span class="bold">PMID: </span><a href="/pubmed/10220702" target="_blank">10220702</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Surfactant%20metabolism%20dysfunction%2C%20pulmonary%2C%205%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 (60)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38366632">Multiple serum biomarkers associate with mortality and interstitial lung disease progression in systemic sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Parker MJS,
|
||
Jee AS,
|
||
Hansen D,
|
||
Proudman S,
|
||
Youssef P,
|
||
Kenna TJ,
|
||
Stevens W,
|
||
Nikpour M,
|
||
Sahhar J,
|
||
Corte TJ</span><br />
|
||
<span class="medgenPMjournal">Rheumatology (Oxford)</span>
|
||
2024 Nov 1;63(11):2981-2988.
|
||
doi: 10.1093/rheumatology/keae110.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38366632" target="_blank">38366632</a><a href="/pmc/articles/PMC11534140" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32897035">Inhaled Molgramostim Therapy in Autoimmune Pulmonary Alveolar Proteinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Trapnell BC,
|
||
Inoue Y,
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||
Bonella F,
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||
Morgan C,
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Jouneau S,
|
||
Bendstrup E,
|
||
Campo I,
|
||
Papiris SA,
|
||
Yamaguchi E,
|
||
Cetinkaya E,
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||
Ilkovich MM,
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||
Kramer MR,
|
||
Veltkamp M,
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||
Kreuter M,
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||
Baba T,
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||
Ganslandt C,
|
||
Tarnow I,
|
||
Waterer G,
|
||
Jouhikainen T;
|
||
IMPALA Trial Investigators</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2020 Oct 22;383(17):1635-1644.
|
||
Epub 2020 Sep 7
|
||
doi: 10.1056/NEJMoa1913590.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32897035" target="_blank">32897035</a><a href="/pmc/articles/PMC8083051" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29566461">Surfactant deficiency syndrome in an infant with a C-terminal frame shift in ABCA3: A case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akil N,
|
||
Fischer AJ</span><br />
|
||
<span class="medgenPMjournal">Pediatr Pulmonol</span>
|
||
2018 May;53(5):E12-E14.
|
||
Epub 2018 Mar 22
|
||
doi: 10.1002/ppul.23994.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29566461" target="_blank">29566461</a><a href="/pmc/articles/PMC5947115" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15269312">Higher versus lower positive end-expiratory pressures in patients with the acute respiratory distress syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brower RG,
|
||
Lanken PN,
|
||
MacIntyre N,
|
||
Matthay MA,
|
||
Morris A,
|
||
Ancukiewicz M,
|
||
Schoenfeld D,
|
||
Thompson BT;
|
||
National Heart, Lung, and Blood Institute ARDS Clinical Trials Network</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2004 Jul 22;351(4):327-36.
|
||
doi: 10.1056/NEJMoa032193.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15269312" target="_blank">15269312</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6892755">Inhalation injury in burns.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Head JM</span><br />
|
||
<span class="medgenPMjournal">Am J Surg</span>
|
||
1980 Apr;139(4):508-12.
|
||
doi: 10.1016/0002-9610(80)90328-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6892755" target="_blank">6892755</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Surfactant%20metabolism%20dysfunction%2C%20pulmonary%2C%205%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 (90)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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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=C3280574%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (15)</a></li>
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||
<li><a href="/gtr/tests?term=C3280574%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (19)</a></li>
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<li><a href="/gtr/tests?term=C3280574%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=C3280574%5bDISCUI%5d" target="_blank">See all (22)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/SURFACTANT+METABOLISM+DYSFUNCTION%2C+PULMONARY%2C+5/9368" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/surfactant_metabolism_dysfunction_pulmonary_5" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Surfactant%20metabolism%20dysfunction,%20pulmonary,%205" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/surfactant-dysfunction" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/15793/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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