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<!--
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||
UID=10814
|
||
ConceptID=C0032290
|
||
-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Aspiration pneumonia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10814</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.">C0032290</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Aspiration pneumonia (disease)</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Aspiration pneumonia (422588002); Inhalation pneumonia (422588002)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0011951">HP:0011951</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0000265" target="_blank">MONDO:0000265</a></td></tr>
|
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</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_content ln">Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0032290[DISCUI]&test_type=Clinical" ref="ncbi_uid=10814">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=10814" ref="ncbi_uid=10814">V</a></span></span><span class="TLline">Aspiration pneumonia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/19750" ref="tree=MeSH" title="MedGen record for Disease, Respiratory Tract">Disease, Respiratory Tract</a></span><ul><li><span class="TLline"><a href="/medgen/7399" ref="tree=MeSH" title="MedGen record for Disorder of lung">Disorder of lung</a></span><ul><li><span class="TLline"><a href="/medgen/10813" ref="tree=MeSH" title="MedGen record for Pneumonia">Pneumonia</a></span><ul><li><span class="matched_ds">Aspiration pneumonia</span><ul><li><span class="TLline"><a href="/medgen/868708" ref="tree=MeSH" title="MedGen record for Acute aspiration pneumonia">Acute aspiration pneumonia</a></span></li><li><span class="TLline"><a href="/medgen/19362" ref="tree=MeSH" title="MedGen record for Lipid pneumonia">Lipid pneumonia</a></span><ul><li><span class="TLline"><a href="/medgen/538619" ref="tree=MeSH" title="MedGen record for Endogenous lipoid pneumonia">Endogenous lipoid pneumonia</a></span></li><li><span class="TLline"><a href="/medgen/1778104" ref="tree=MeSH" title="MedGen record for Exogenous lipoid pneumonia">Exogenous lipoid pneumonia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/152887" ref="tree=MeSH" title="MedGen record for Recurrent aspiration pneumonia">Recurrent aspiration pneumonia</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_75551"><div><strong>Marshall-Smith syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75551</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.">C0265211</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The Marshall-Smith syndrome (MRSHSS) is a malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia (Adam et al., 2005).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75551">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_332113"><div><strong>CEDNIK syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332113</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.">C1836033</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome (CEDNIK) refers to a unique constellation of clinical manifestations including global developmental delay with hypotonia, roving eye movements or nystagmus, poor motor skills, and impaired intellectual development with speech delay. More variable features include microcephaly, feeding difficulties, seizures, ocular anomalies, hearing loss, and nonspecific dysmorphic facial features. Palmoplantar keratoderma and ichthyosis or neuropathy develop in some patients. Brain magnetic resonance imaging (MRI) shows varying degrees of cerebral dysgenesis, including absence of the corpus callosum and cortical dysplasia, as well as hypomyelination, white matter loss, and white matter signal anomalies suggestive of a leukodystrophy. Some patients may show developmental regression; many die in childhood (Fuchs-Telem et al., 2011; Mah-Som et al., 2021). With more patients being reported, several authors (Diggle et al., 2017; Llaci et al., 2019; Mah-Som et al., 2021) have observed that the dermatologic features and peripheral neuropathy show reduced penetrance and are more variable manifestations of this disorder, as they are not observed in all patients with biallelic SNAP29 mutations.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332113">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341818"><div><strong>Yunis-Varon syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341818</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.">C1857663</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Yunis-Varon syndrome (YVS) is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341818">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_477139"><div><strong>Multiple congenital anomalies-hypotonia-seizures syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>477139</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.">C3275508</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple congenital anomalies-hypotonia-seizures syndrome-2 (MCAHS2) is an X-linked recessive neurodevelopmental disorder characterized by dysmorphic features, neonatal hypotonia, early-onset myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems. Some affected individuals die in infancy (summary by Johnston et al., 2012). The phenotype shows clinical variability with regard to severity and extraneurologic features. However, most patients present in infancy with early-onset epileptic encephalopathy associated with developmental arrest and subsequent severe neurologic disability; these features are consistent with a form of developmental and epileptic encephalopathy (DEE) (summary by Belet et al., 2014, Kato et al., 2014). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of MCAHS, see MCAHS1 (614080). For a discussion of nomenclature and genetic heterogeneity of DEE, see 308350. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/477139">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_894554"><div><strong>Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>894554</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.">C4085597</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CHOPS syndrome is a disorder involving multiple abnormalities that are present from birth (congenital). The name "CHOPS" is an abbreviation for a list of features of the disorder including cognitive impairment, coarse facial features, heart defects, obesity, lung (pulmonary) involvement, short stature, and skeletal abnormalities.\n\nChildren with CHOPS syndrome have intellectual disability and delayed development of skills such as sitting and walking. Characteristic facial features include a round face; thick hair; thick eyebrows that grow together in the middle (synophrys); wide-set, bulging eyes with long eyelashes; a short nose; and down-turned corners of the mouth.\n\nMost affected individuals are born with a heart defect called patent ductus arteriosus (PDA). The ductus arteriosus is a connection between two major arteries, the aorta and the pulmonary artery. This connection is open during fetal development and normally closes shortly after birth. However, the ductus arteriosus remains open, or patent, in babies with PDA. If untreated, this heart defect causes infants to breathe rapidly, feed poorly, and gain weight slowly; in severe cases, it can lead to heart failure. Multiple heart abnormalities have sometimes been found in children with CHOPS syndrome. In addition to PDA, affected individuals may have ventricular septal defect, which is a defect in the muscular wall (septum) that separates the right and left sides of the heart's lower chamber.\n\nPeople with CHOPS syndrome have abnormalities of the throat and airways that cause momentary cessation of breathing while asleep (obstructive sleep apnea). These abnormalities can also cause affected individuals to breathe food or fluids into the lungs accidentally, which can lead to a potentially life-threatening bacterial lung infection (aspiration pneumonia) and chronic lung disease. Affected individuals are shorter than more than 97 percent of their peers and are overweight for their height. They also have skeletal differences including unusually short fingers and toes (brachydactyly) and abnormally-shaped spinal bones (vertebrae).\n\nOther features that can occur in CHOPS syndrome include a small head size (microcephaly); hearing loss; clouding of the lens of the eye (cataract); a single, horseshoe-shaped kidney; and, in affected males, undescended testes (cryptorchidism).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/894554">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_924576"><div><strong>MIRAGE syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>924576</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.">C4284088</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MIRAGE syndrome is an acronym for the major findings of myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. Cytopenias are typically seen soon after birth; thrombocytopenia is the most common followed by anemia and pancytopenia. Recurrent infections from early infancy include pneumonia, urinary tract infection, gastroenteritis, meningitis, otitis media, dermatitis, subcutaneous abscess, and sepsis. Reported genital phenotypes in those with 46,XY karyotype included hypospadias, microphallus, bifid shawl scrotum, ambiguous genitalia, or complete female genitalia. Hypoplastic or dysgenetic ovaries have been reported in females. Gastrointestinal complications include chronic diarrhea and esophageal dysfunction. Moderate-to-severe developmental delay is reported in most affected individuals. Autonomic dysfunction and renal dysfunction are also reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/924576">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648420"><div><strong>Mitochondrial complex 1 deficiency, nuclear type 33</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648420</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.">C4748840</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648420">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1757992"><div><strong>Combined oxidative phosphorylation deficiency 51</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1757992</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.">C5436703</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Combined oxidative phosphorylation deficiency-51 (COXPD51) is an autosomal recessive disorder characterized by a Leigh syndrome phenotype (see 256000). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1757992">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1751884"><div><strong>Mitochondrial complex 2 deficiency, nuclear type 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1751884</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.">C5436934</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial complex II deficiency nuclear type 3 (MC2DN3) is an autosomal recessive multisystemic metabolic disorder with a highly variable phenotype. Some patients may have an encephalomyopathic picture with episodic developmental regression, loss of motor skills, hypotonia, ataxia, dystonia, and seizures or myoclonus. Other patients present in infancy with hypertrophic cardiomyopathy, which may be fatal. Laboratory studies show increased serum lactate and mitochondrial complex II deficiency in muscle and fibroblasts (summary by Jackson et al., 2014 and Alston et al., 2015). For a discussion of genetic heterogeneity of MC2DN, see MC2DN1 (252011).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1751884">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794169"><div><strong>Facioscapulohumeral muscular dystrophy 3, digenic</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794169</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.">C5561959</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Facioscapulohumeral muscular dystrophy-3 (FSHD3) is a digenic muscle disorder characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs. Muscle involvement is usually asymmetric, and other muscle groups may become involved with progression of the disease (summary by Hamanaka et al., 2020). For a discussion of genetic heterogeneity of FSHD, see FSHD1 (158900).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794169">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794173"><div><strong>Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794173</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.">C5561963</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital central hypoventilation syndrome-2 and autonomic dysfunction (CCHS2) is an autosomal recessive disorder characterized by shallow breathing and apneic spells apparent in the neonatal period. Affected infants require mechanical ventilation due to impaired ventilatory response to hypercapnia, as well as tube feeding due to poor swallowing, aspiration, and gastrointestinal dysmotility. Some patients have other features of autonomic dysfunction, including bladder dysfunction, sinus bradycardia, and temperature dysregulation. Although mild global developmental delay with learning difficulties and seizures were present in the single family reported, it was unclear if these features were related to the hypoventilation phenotype (Spielmann et al., 2017). For a discussion of genetic heterogeneity of CCHS, see CCHS1 (209880).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794173">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1799165"><div><strong>Combined oxidative phosphorylation defect type 25</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1799165</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.">C5567742</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activity. Characteristics of this disease hypotonia, global developmental delay, neonatal onset of progressive pectus carinatum without other skeletal abnormalities, poor growth, sensorineural hearing loss, dysmorphic features and brain abnormalities such as cerebral atrophy, quadriventricular dilatation and thin corpus callosum posteriorly.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1799165">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_332113" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">CEDNIK syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794173" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_894554" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1799165" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined oxidative phosphorylation defect type 25</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1757992" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined oxidative phosphorylation deficiency 51</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (12)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Facioscapulohumeral muscular dystrophy 3, digenic</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75551" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Marshall-Smith syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_924576" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">MIRAGE syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648420" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex 1 deficiency, nuclear type 33</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1751884" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex 2 deficiency, nuclear type 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_477139" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple congenital anomalies-hypotonia-seizures syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341818" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Yunis-Varon syndrome</a></div></span></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/38508837">Dysphagia after stroke: research advances in treatment interventions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Labeit B,
|
||
Michou E,
|
||
Trapl-Grundschober M,
|
||
Suntrup-Krueger S,
|
||
Muhle P,
|
||
Bath PM,
|
||
Dziewas R</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2024 Apr;23(4):418-428.
|
||
doi: 10.1016/S1474-4422(24)00053-X.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38508837" target="_blank">38508837</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36333037">Neurocritical Care Aspects of Ischemic Stroke Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Qaryouti D,
|
||
Greene-Chandos D</span><br />
|
||
<span class="medgenPMjournal">Crit Care Clin</span>
|
||
2023 Jan;39(1):55-70.
|
||
Epub 2022 Oct 1
|
||
doi: 10.1016/j.ccc.2022.07.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36333037" target="_blank">36333037</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33448766">Dysphagia: Evaluation and Collaborative Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wilkinson JM,
|
||
Codipilly DC,
|
||
Wilfahrt RP</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2021 Jan 15;103(2):97-106.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33448766" target="_blank">33448766</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22aspiration%20pneumonia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (258)</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/37871952">Aspiration pneumonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Girard V,
|
||
Bai AD</span><br />
|
||
<span class="medgenPMjournal">CMAJ</span>
|
||
2023 Oct 23;195(41):E1417.
|
||
doi: 10.1503/cmaj.230628.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37871952" target="_blank">37871952</a><a href="/pmc/articles/PMC10593196" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35488832">Aspiration pneumonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Niederman MS,
|
||
Cilloniz C</span><br />
|
||
<span class="medgenPMjournal">Rev Esp Quimioter</span>
|
||
2022 Apr;35 Suppl 1(Suppl 1):73-77.
|
||
Epub 2022 Apr 22
|
||
doi: 10.37201/req/s01.17.2022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35488832" target="_blank">35488832</a><a href="/pmc/articles/PMC9106188" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34087609">Aspiration pneumonia: A renewed perspective and practical approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Almirall J,
|
||
Boixeda R,
|
||
de la Torre MC,
|
||
Torres A</span><br />
|
||
<span class="medgenPMjournal">Respir Med</span>
|
||
2021 Aug-Sep;185:106485.
|
||
Epub 2021 May 26
|
||
doi: 10.1016/j.rmed.2021.106485.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34087609" target="_blank">34087609</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30763196">Aspiration Pneumonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mandell LA,
|
||
Niederman MS</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2019 Feb 14;380(7):651-663.
|
||
doi: 10.1056/NEJMra1714562.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30763196" target="_blank">30763196</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11228282">Aspiration pneumonitis and aspiration pneumonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marik PE</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2001 Mar 1;344(9):665-71.
|
||
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<div class="portlet_content ln"><span class="medgenPMauthor">Tulunay-Ugur OE,
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<div class="nl"><a target="_blank" href="/pubmed/38387648">Anaerobic Antibiotic Coverage in Aspiration Pneumonia and the Associated Benefits and Harms: A Retrospective Cohort Study.</a></div>
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Srivastava S,
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<div class="nl"><a target="_blank" href="/pubmed/38387648">Anaerobic Antibiotic Coverage in Aspiration Pneumonia and the Associated Benefits and Harms: A Retrospective Cohort Study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bai AD,
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Srivastava S,
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Digby GC,
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Girard V,
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<div class="nl"><a target="_blank" href="/pubmed/35099619">Mortality from Aspiration Pneumonia: Incidence, Trends, and Risk Factors.</a></div>
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Knack A,
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<div class="nl"><a target="_blank" href="/pubmed/35199544">Aspiration syndromes and associated lung injury: incidence, pathophysiology and management.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/17868917">Congenital and neonatal pneumonia.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/39426815">Debunking myths in radiology: ending pre-contrast fasting.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/39426815" target="_blank">39426815</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/38387648">Anaerobic Antibiotic Coverage in Aspiration Pneumonia and the Associated Benefits and Harms: A Retrospective Cohort Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bai AD,
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Srivastava S,
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Digby GC,
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Girard V,
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Razak F,
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Verma AA</span><br />
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<span class="medgenPMjournal">Chest</span>
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Epub 2024 Feb 20
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doi: 10.1016/j.chest.2024.02.025.
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<span class="bold">PMID: </span><a href="/pubmed/38387648" target="_blank">38387648</a><a href="/pmc/articles/PMC11251078" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33961884">Double Heart-Shaped Silhouette.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ono R,
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Kitagawa I</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/30996170">Management of Dysphagia in Patients with Parkinson's Disease and Related Disorders.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Umemoto G,
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|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9513300">Predictors of aspiration pneumonia: how important is dysphagia?</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Langmore SE,
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||
Terpenning MS,
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||
Schork A,
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Chen Y,
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Murray JT,
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Lopatin D,
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Loesche WJ</span><br />
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<span class="medgenPMjournal">Dysphagia</span>
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doi: 10.1007/PL00009559.
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aspiration%20pneumonia%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 (1454)</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/36008745">The diagnosis of aspiration pneumonia in older persons: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yoshimatsu Y,
|
||
Melgaard D,
|
||
Westergren A,
|
||
Skrubbeltrang C,
|
||
Smithard DG</span><br />
|
||
<span class="medgenPMjournal">Eur Geriatr Med</span>
|
||
2022 Oct;13(5):1071-1080.
|
||
Epub 2022 Aug 25
|
||
doi: 10.1007/s41999-022-00689-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36008745" target="_blank">36008745</a><a href="/pmc/articles/PMC9409622" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33405973">Interventions to Prevent Aspiration Pneumonia in Older Adults: An Updated Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santos JMLG,
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||
Ribeiro Ó,
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||
Jesus LMT,
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||
Matos MAC</span><br />
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<span class="medgenPMjournal">J Speech Lang Hear Res</span>
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2021 Feb 17;64(2):464-480.
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Epub 2021 Jan 6
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doi: 10.1044/2020_JSLHR-20-00123.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33405973" target="_blank">33405973</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32677660">Poor oral hygiene, oral microorganisms and aspiration pneumonia risk in older people in residential aged care: a systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Khadka S,
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Khan S,
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King A,
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Goldberg LR,
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Crocombe L,
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Bettiol S</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/32677660" target="_blank">32677660</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/27102184">Screening Accuracy for Aspiration Using Bedside Water Swallow Tests: A Systematic Review and Meta-Analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Brodsky MB,
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Suiter DM,
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González-Fernández M,
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Michtalik HJ,
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Frymark TB,
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2016 Jul;150(1):148-63.
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Epub 2016 Apr 19
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<span class="bold">PMID: </span><a href="/pubmed/27102184" target="_blank">27102184</a><a href="/pmc/articles/PMC4980548" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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||
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<div class="nl"><a target="_blank" href="/pubmed/24893784">Ultrasound assessment of gastric content and volume.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Van de Putte P,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aspiration%20pneumonia%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 (139)</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=C0032290%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0032290%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (2)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0032290%5bDISCUI%5d" target="_blank">See all (2)</a></total></li>
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