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<meta name="keywords" content="C2712334, aspiration, aspiration into respiratory tract, finding, pulmonary aspiration, 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="Inspiration of a foreign object into the airway." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Aspiration (Concept Id: C2712334)
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<!--
UID=751786
ConceptID=C2712334
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Aspiration</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>751786</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)&#10;Click for more information.">C2712334</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Aspiration into respiratory tract; Pulmonary aspiration</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Aspiration into respiratory tract (413585005)</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:0002835">HP:0002835</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">Inspiration of a foreign object into the airway. [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>
<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="TLline">Aspiration</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/866322" ref="tree=MeSH" title="MedGen record for Abnormality of the respiratory system">Abnormality of the respiratory system</a></span><ul><li><span class="TLline"><a href="/medgen/220360" ref="tree=MeSH" title="MedGen record for Abnormal respiratory system physiology">Abnormal respiratory system physiology</a></span><ul><li><span class="matched_ds">Aspiration</span></li></ul></li></ul></li></ul></li></ul></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_11713"><div><strong>Tay-Sachs disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11713</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)&#10;Click for more information."><span class="highlight" style="background-color:">C0039373</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">HEXA disorders are best considered as a disease continuum based on the amount of residual beta-hexosaminidase A (HEX A) enzyme activity. This, in turn, depends on the molecular characteristics and biological impact of the HEXA pathogenic variants. HEX A is necessary for degradation of GM2 ganglioside; without well-functioning enzymes, GM2 ganglioside builds up in the lysosomes of brain and nerve cells. The classic clinical phenotype is known as Tay-Sachs disease (TSD), characterized by progressive weakness, loss of motor skills beginning between ages three and six months, decreased visual attentiveness, and increased or exaggerated startle response with a cherry-red spot observable on the retina followed by developmental plateau and loss of skills after eight to ten months. Seizures are common by 12 months with further deterioration in the second year of life and death occurring between ages two and three years with some survival to five to seven years. Subacute juvenile TSD is associated with normal developmental milestones until age two years, when the emergence of abnormal gait or dysarthria is noted followed by loss of previously acquired skills and cognitive decline. Spasticity, dysphagia, and seizures are present by the end of the first decade of life, with death within the second decade of life, usually by aspiration. Late-onset TSD presents in older teens or young adults with a slowly progressive spectrum of neurologic symptoms including lower-extremity weakness with muscle atrophy, dysarthria, incoordination, tremor, mild spasticity and/or dystonia, and psychiatric manifestations including acute psychosis. Clinical variability even among affected members of the same family is observed in both the subacute juvenile and the late-onset TSD phenotypes.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/11713">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_78657"><div><strong>Tay-Sachs disease, variant AB</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78657</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)&#10;Click for more information.">C0268275</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Acute infantile GM2 activator deficiency is a neurodegenerative disorder in which infants, who are generally normal at birth, have progressive weakness and slowing of developmental progress between ages four and 12 months. An ensuing developmental plateau is followed by progressively rapid developmental regression. By the second year of life decerebrate posturing, difficulty in swallowing, and worsening seizures lead to an unresponsive vegetative state. Death usually occurs between ages two and three years.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/78657">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_332072"><div><strong>DK1-congenital disorder of glycosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332072</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)&#10;Click for more information.">C1835849</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">DOLK-congenital disorder of glycosylation (DOLK-CDG, formerly known as congenital disorder of glycosylation type Im) is an inherited condition that often affects the heart but can also involve other body systems. The pattern and severity of this disorder's signs and symptoms vary among affected individuals.\n\nIndividuals with DOLK-CDG typically develop signs and symptoms of the condition during infancy or early childhood. Nearly all individuals with DOLK-CDG develop a weakened and enlarged heart (dilated cardiomyopathy). Other frequent signs and symptoms include recurrent seizures; developmental delay; poor muscle tone (hypotonia); and dry, scaly skin (ichthyosis). Less commonly, affected individuals can have distinctive facial features, kidney disease, hormonal abnormalities, or eye problems.\n\nIndividuals with DOLK-CDG typically do not survive into adulthood, often because of complications related to dilated cardiomyopathy, and some do not survive past infancy.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/332072">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_349091"><div><strong>Cleft larynx, posterior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349091</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)&#10;Click for more information.">C1859083</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/349091">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_424842"><div><strong>X-linked Opitz G/BBB syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>424842</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)&#10;Click for more information.">C2936904</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">MID1-related Opitz G/BBB syndrome (MID1-OS) is characterized by facial anomalies (hypertelorism, prominent forehead, widow's peak, broad nasal bridge, anteverted nares), genitourinary abnormalities (hypospadias, cryptorchidism, and hypoplastic/bifid scrotum), and laryngotracheoesophageal defects. Developmental delay and intellectual disability are observed in about 30% of affected males. Cleft lip and/or palate are present in approximately half of affected males. Other malformations (present in &lt;50% of affected males) include congenital heart defects, imperforate or ectopic anus, and midline brain defects (Dandy-Walker malformation and agenesis or hypoplasia of the corpus callosum and/or cerebellar vermis). Wide clinical variability occurs even among members of the same family. Female heterozygotes usually manifest hypertelorism only.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/424842">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_462055"><div><strong>Rett syndrome, congenital variant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462055</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)&#10;Click for more information.">C3150705</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">FOXG1 syndrome is characterized by moderate-to-profound developmental delay and intellectual disability, postnatal growth deficiency, congenital or postnatal microcephaly, hyperkinetic/dyskinetic movement disorder, hypotonia, neurobehavioral/psychiatric manifestations (motor stereotypies, impairment of social interaction, abnormal sleep patterns, unexplained episodes of crying, restlessness, and bruxism), feeding difficulties with poor weight gain, strabismus, seizures, spasticity, gastroesophageal reflux, and aspiration. Some individuals have cortical visual impairment, kyphosis, scoliosis, and/or abnormal breathing. Characteristic neuroimaging findings include corpus callosum anomalies (especially a marked, filiform thinning of the rostrum of the corpus callosum), a simplified gyral pattern, and hyperplasia of the fornices.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/462055">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_477078"><div><strong>Ogden syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>477078</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)&#10;Click for more information.">C3275447</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Ogden syndrome (OGDNS) is an X-linked neurodevelopmental disorder characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia. Many patients also have cardiac malformations or arrhythmias (summary by Popp et al., 2015).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/477078">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)&#10;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.&#13; For a discussion of genetic heterogeneity of MCAHS, see MCAHS1 (614080).&#13; For a discussion of nomenclature and genetic heterogeneity of DEE, see 308350.&#13; 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_761278"><div><strong>Hereditary sensory and autonomic neuropathy type 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>761278</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)&#10;Click for more information.">C3539003</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Hereditary sensory and autonomic neuropathy type VI (HSAN6) is a severe autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine injection (summary by Edvardson et al., 2012).&#13; For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1 (162400).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/761278">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_762040"><div><strong>Pontine tegmental cap dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>762040</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)&#10;Click for more information.">C3541340</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Pontine tegmental cap dysplasia (PTCD) refers to a neurologic condition characterized by a distinct pattern of hindbrain malformations apparent on brain imaging. The abnormalities affect the pons, medulla, and cerebellum. In neuroradiologic studies, the ventral side of the pons is flattened, whereas there is vaulting ('capping') of the dorsal pontine border into the fourth ventricle. Affected individuals show a variety of neurologic deficits, most commonly sensorineural deafness, impaired cranial nerve function, and variable psychomotor retardation (summary by Barth et al., 2007).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/762040">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_813851"><div><strong>Amyotrophic lateral sclerosis type 21</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>813851</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)&#10;Click for more information.">C3807521</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Amyotrophic lateral sclerosis-21 (ALS21) is an autosomal dominant neurodegenerative disorder affecting upper and lower motor neurons, resulting in muscle weakness and respiratory failure. Some patients may develop myopathic features or dementia (summary by Johnson et al., 2014).&#13; For a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (105400).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/813851">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_903483"><div><strong>Acrofacial dysostosis Cincinnati type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>903483</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)&#10;Click for more information.">C4225317</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The Cincinnati type of acrofacial dysostosis is a ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without extrafacial skeletal defects (Weaver et al., 2015). In addition, a significant number of neurologic abnormalities have been reported, ranging from mild delays to refractory epilepsy, as well as an increased incidence of congenital heart defects, primarily septal in nature (Smallwood et al., 2023).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/903483">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_934729"><div><strong>Developmental and epileptic encephalopathy, 38</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934729</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)&#10;Click for more information.">C4310762</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Developmental and epileptic encephalopathy-38 (DEE38) is an autosomal recessive neurologic and neurodegenerative disorder characterized by the onset of various type of seizures usually between about 4 and 7 months of age. Prior to the onset of seizures, most infants show severely impaired global development, hypotonia with poor head control, and visual inattention with roving eye movements and nystagmus. Seizures are usually refractory to treatment and associated with status epilepticus. Patients have little or no development with inability to walk or speak, spasticity or abnormal movements, and often cortical blindness. There is failure to thrive, and many require tube-feeding. Death in early childhood due to aspiration or intractable epilepsy may occur. The disorder is associated with a defect in GPI-anchoring of membrane-bound proteins (summary by Palmer et al., 2016; Davids et al., 2020).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.&#13; For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/934729">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1647581"><div><strong>Hyperekplexia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1647581</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)&#10;Click for more information.">C4551954</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Hyperekplexia is an early-onset neurologic disorder characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli. Affected individuals have brief episodes of intense, generalized hypertonia in response to stimulation. Neonates may have prolonged periods of rigidity and are at risk for sudden death from apnea or aspiration. Many affected infants have inguinal hernias. The symptoms tend to resolve after infancy, but adults may have increased startle-induced falls and/or experience nocturnal muscle jerks (summary by Ryan et al., 1992).&#13; Genetic Heterogeneity of Hyperekplexia&#13; See also HKPX2 (614619), caused by mutation in the GLRB gene (138492) on chromosome 4q31; HKPX3 (614618), caused by mutation in the GLYT2 gene (SLC6A5; 604159) on chromosome 11p15; and HKPX4 (618011), caused by mutation in the ATAD1 gene (614452) on chromosome 10q23.&#13; Hyperekplexia can also occur in developmental and epileptic encephalopathy-8 (DEE8; 300607), caused by mutation in the ARHGEF9 gene (300429).&#13; See also sporadic stiff-man syndrome (184850) and the 'Jumping Frenchmen of Maine' (244100).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1647581">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1684682"><div><strong>Oculopharyngodistal myopathy 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684682</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)&#10;Click for more information.">C5231388</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Oculopharyngodistal myopathy-1 (OPDM1) is an autosomal dominant disorder characterized by adult-onset ptosis, external ophthalmoplegia, facial muscle weakness, distal limb muscle weakness and atrophy, and pharyngeal involvement, resulting in dysphagia and dysarthria. Skeletal muscle biopsy shows myopathic changes with rimmed vacuoles. There are variable manifestations of the disorder regarding muscle involvement and severity (summary by Ishiura et al., 2019).&#13; Genetic Heterogeneity of Oculopharyngodistal Myopathy&#13; See also OPDM2 (618940), caused by trinucleotide repeat expansion in the GIPC1 gene (605072) on chromosome 19p13; OPDM3 (619473), caused by trinucleotide repeat expansion in the NOTCH2NLC gene (618025) on chromosome 1q21; and OPDM4 (619790), caused by trinucleotide repeat expansion in the RILPL1 gene (614092) on chromosome 12q24.&#13; Oculopharyngeal muscular dystrophy (OPMD; 164300) is a similar disorder with overlapping features. It is caused by a similar heterozygous trinucleotide repeat expansion in the PABPN1 gene (602279) (summary by Durmus et al., 2011).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1684682">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1684884"><div><strong>Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684884</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)&#10;Click for more information.">C5231442</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Halperin-Birk syndrome (HLBKS) is an autosomal recessive neurodevelopmental disorder characterized by structural brain defects, spastic quadriplegia with multiple contractures, profound developmental delay, seizures, dysmorphism, cataract, and optic nerve atrophy. Death occurs in early childhood (Halperin et al., 2019).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1684884">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1684689"><div><strong>Neuromuscular disease and ocular or auditory anomalies with or without seizures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684689</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)&#10;Click for more information.">C5231483</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Neuromuscular oculoauditory syndrome (NMOAS) is a neurodevelopmental disorder with variable features including hypotonia, nonspecific developmental delay, and ear deformity or sensorineural deafness. Features may be reminiscent of Aicardi syndrome (see 304050), with chorioretinal lacunae, infantile spasms, and agenesis of the corpus callosum (Paine et al., 2019).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1684689">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1708579"><div><strong>Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1708579</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)&#10;Click for more information.">C5394517</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities (NEDSHBA) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay, severe to profound intellectual impairment, early-onset refractory seizures, hypotonia, failure to thrive, and progressive microcephaly. Brain imaging shows cerebral atrophy, thin corpus callosum, and myelination defects. Death in childhood may occur (summary by Marafi et al., 2020).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1708579">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1794184"><div><strong>Neurodevelopmental disorder with hypotonia and dysmorphic facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794184</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)&#10;Click for more information.">C5561974</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Neurodevelopmental disorder with hypotonia and dysmorphic facies (NEDHYDF) is characterized by global developmental delay and hypotonia apparent from birth. Affected individuals have variably impaired intellectual development, often with speech delay and delayed walking. Seizures are generally not observed, although some patients may have single seizures or late-onset epilepsy. Most patients have prominent dysmorphic facial features. Additional features may include congenital cardiac defects (without arrhythmia), nonspecific renal anomalies, joint contractures or joint hyperextensibility, dry skin, and cryptorchidism. There is significant phenotypic variability in both the neurologic and extraneurologic manifestations (summary by Tan et al., 2022).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1794184">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1809351"><div><strong>Developmental and epileptic encephalopathy 100</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1809351</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)&#10;Click for more information.">C5676932</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Developmental and epileptic encephalopathy-100 (DEE100) is a severe neurologic disorder characterized by global developmental delay and onset of variable types of seizures in the first months or years of life. Most patients have refractory seizures and show developmental regression after seizure onset. Affected individuals have ataxic gait or inability to walk and severe to profoundly impaired intellectual development, often with absent speech. Additional more variable features may include axial hypotonia, hyperkinetic movements, dysmorphic facial features, and brain imaging abnormalities (summary by Schneider et al., 2021).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1809351">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_903483" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acrofacial dysostosis Cincinnati type</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_813851" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amyotrophic lateral sclerosis type 21</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349091" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cleft larynx, posterior</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1809351" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy 100</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934729" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy, 38</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (20)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_332072" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">DK1-congenital disorder of glycosylation</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_761278" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary sensory and autonomic neuropathy type 6</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1647581" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperekplexia 1</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_1794184" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with hypotonia and dysmorphic facies</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1708579" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684884" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684689" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuromuscular disease and ocular or auditory anomalies with or without seizures</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684682" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculopharyngodistal myopathy 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_477078" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ogden syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_762040" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pontine tegmental cap dysplasia</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462055" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rett syndrome, congenital variant</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_11713" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tay-Sachs disease</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_424842" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked Opitz G/BBB syndrome</a></div></span></div></div>
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<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/38182527">International evidence-based Kyoto guidelines for the management of intraductal papillary mucinous neoplasm of the pancreas.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ohtsuka T,
Fernandez-Del Castillo C,
Furukawa T,
Hijioka S,
Jang JY,
Lennon AM,
Miyasaka Y,
Ohno E,
Salvia R,
Wolfgang CL,
Wood LD</span><br />
<span class="medgenPMjournal">Pancreatology</span>
2024 Mar;24(2):255-270.
Epub 2023 Dec 28
doi: 10.1016/j.pan.2023.12.009.
<span class="bold">PMID: </span><a href="/pubmed/38182527" target="_blank">38182527</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37648062">European society of Clinical Microbiology and Infectious Diseases guidelines on diagnosis and treatment of brain abscess in children and adults.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bodilsen J,
D'Alessandris QG,
Humphreys H,
Iro MA,
Klein M,
Last K,
Montesinos IL,
Pagliano P,
Sipahi OR,
San-Juan R,
Tattevin P,
Thurnher M,
de J Treviño-Rangel R,
Brouwer MC;
ESCMID Study Group for Infections of the Brain (ESGIB)</span><br />
<span class="medgenPMjournal">Clin Microbiol Infect</span>
2024 Jan;30(1):66-89.
Epub 2023 Aug 29
doi: 10.1016/j.cmi.2023.08.016.
<span class="bold">PMID: </span><a href="/pubmed/37648062" target="_blank">37648062</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37358008">2023 European Thyroid Association Clinical Practice Guidelines for thyroid nodule management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Durante C,
Hegedüs L,
Czarniecka A,
Paschke R,
Russ G,
Schmitt F,
Soares P,
Solymosi T,
Papini E</span><br />
<span class="medgenPMjournal">Eur Thyroid J</span>
2023 Oct 1;12(5)
Epub 2023 Aug 14
doi: 10.1530/ETJ-23-0067.
<span class="bold">PMID: </span><a href="/pubmed/37358008" target="_blank">37358008</a><a href="/pmc/articles/PMC10448590" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22aspiration%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 (4000)</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/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/24893784">Ultrasound assessment of gastric content and volume.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Van de Putte P,
Perlas A</span><br />
<span class="medgenPMjournal">Br J Anaesth</span>
2014 Jul;113(1):12-22.
Epub 2014 Jun 3
doi: 10.1093/bja/aeu151.
<span class="bold">PMID: </span><a href="/pubmed/24893784" target="_blank">24893784</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.
doi: 10.1056/NEJM200103013440908.
<span class="bold">PMID: </span><a href="/pubmed/11228282" target="_blank">11228282</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aspiration%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 (31482)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/36607208">Dysphagia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McIntosh E</span><br />
<span class="medgenPMjournal">Home Healthc Now</span>
2023 Jan-Feb 01;41(1):36-41.
doi: 10.1097/NHH.0000000000001134.
<span class="bold">PMID: </span><a href="/pubmed/36607208" target="_blank">36607208</a></div>
<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/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/28750782">Aspiration Pneumonia in the Dog: A Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sherman R,
Karagiannis M</span><br />
<span class="medgenPMjournal">Top Companion Anim Med</span>
2017 Mar;32(1):1-7.
Epub 2017 May 27
doi: 10.1053/j.tcam.2017.05.003.
<span class="bold">PMID: </span><a href="/pubmed/28750782" target="_blank">28750782</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aspiration%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 (40713)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/38357937">Cumulative live birth rate of in vitro fertilization cycle via progestin-primed ovarian stimulation versus gonadotropin-releasing hormone antagonist protocol in infertile women with normal ovarian reserve: an open-label, randomized controlled trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ye H,
Shi L,
Quan X,
Hou M,
Ma H,
Xue S,
Yu Z,
Chen Q,
Sun L</span><br />
<span class="medgenPMjournal">Hum Fertil (Camb)</span>
2024 Dec;27(1):2316005.
Epub 2024 Feb 15
doi: 10.1080/14647273.2024.2316005.
<span class="bold">PMID: </span><a href="/pubmed/38357937" target="_blank">38357937</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30239412">Updates in emergency airway management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Carlson JN,
Wang HE</span><br />
<span class="medgenPMjournal">Curr Opin Crit Care</span>
2018 Dec;24(6):525-530.
doi: 10.1097/MCC.0000000000000552.
<span class="bold">PMID: </span><a href="/pubmed/30239412" target="_blank">30239412</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17524425">ICH aspiration and thrombolysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Naval NS,
Nyquist P,
Carhuapoma JR</span><br />
<span class="medgenPMjournal">J Neurol Sci</span>
2007 Oct 15;261(1-2):80-3.
Epub 2007 May 23
doi: 10.1016/j.jns.2007.04.037.
<span class="bold">PMID: </span><a href="/pubmed/17524425" target="_blank">17524425</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15641639">Position paper: gastric lavage.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vale JA,
Kulig K;
American Academy of Clinical Toxicology;
European Association of Poisons Centres and Clinical Toxicologists</span><br />
<span class="medgenPMjournal">J Toxicol Clin Toxicol</span>
2004;42(7):933-43.
doi: 10.1081/clt-200045006.
<span class="bold">PMID: </span><a href="/pubmed/15641639" target="_blank">15641639</a></div>
<div class="nl"><a target="_blank" href="/pubmed/14584013">Preoperative fasting for adults to prevent perioperative complications.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Brady M,
Kinn S,
Stuart P</span><br />
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
2003;(4):CD004423.
doi: 10.1002/14651858.CD004423.
<span class="bold">PMID: </span><a href="/pubmed/14584013" target="_blank">14584013</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aspiration%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 (20165)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/35099619">Mortality from Aspiration Pneumonia: Incidence, Trends, and Risk Factors.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gupte T,
Knack A,
Cramer JD</span><br />
<span class="medgenPMjournal">Dysphagia</span>
2022 Dec;37(6):1493-1500.
Epub 2022 Jan 31
doi: 10.1007/s00455-022-10412-w.
<span class="bold">PMID: </span><a href="/pubmed/35099619" target="_blank">35099619</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35199544">Aspiration syndromes and associated lung injury: incidence, pathophysiology and management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Košutova P,
Mikolka P</span><br />
<span class="medgenPMjournal">Physiol Res</span>
2021 Dec 30;70(Suppl4):S567-S583.
doi: 10.33549/physiolres.934767.
<span class="bold">PMID: </span><a href="/pubmed/35199544" target="_blank">35199544</a><a href="/pmc/articles/PMC9054185" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33826075">Mazzini at 150: the Italian death of a London exile.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mangione S,
Borghi L,
Bianucci R</span><br />
<span class="medgenPMjournal">Intern Emerg Med</span>
2021 Oct;16(7):1755-1758.
Epub 2021 Apr 7
doi: 10.1007/s11739-021-02728-6.
<span class="bold">PMID: </span><a href="/pubmed/33826075" target="_blank">33826075</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32450124">Nutritional challenges in children and adolescents with Down syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nordstrøm M,
Retterstøl K,
Hope S,
Kolset SO</span><br />
<span class="medgenPMjournal">Lancet Child Adolesc Health</span>
2020 Jun;4(6):455-464.
doi: 10.1016/S2352-4642(19)30400-6.
<span class="bold">PMID: </span><a href="/pubmed/32450124" target="_blank">32450124</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17868917">Congenital and neonatal pneumonia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nissen MD</span><br />
<span class="medgenPMjournal">Paediatr Respir Rev</span>
2007 Sep;8(3):195-203.
Epub 2007 Sep 6
doi: 10.1016/j.prrv.2007.07.001.
<span class="bold">PMID: </span><a href="/pubmed/17868917" target="_blank">17868917</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aspiration%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 (17698)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/37548096">Pitfalls in soft tissue cytopathology.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rekhi B,
Qian X,
Domanski HA,
Klijanienko J,
Field A</span><br />
<span class="medgenPMjournal">Cytopathology</span>
2024 Jan;35(1):30-47.
Epub 2023 Aug 7
doi: 10.1111/cyt.13282.
<span class="bold">PMID: </span><a href="/pubmed/37548096" target="_blank">37548096</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33326953">Artificial Intelligence in Thyroid Fine Needle Aspiration Biopsies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kezlarian B,
Lin O</span><br />
<span class="medgenPMjournal">Acta Cytol</span>
2021;65(4):324-329.
Epub 2020 Dec 16
doi: 10.1159/000512097.
<span class="bold">PMID: </span><a href="/pubmed/33326953" target="_blank">33326953</a><a href="/pmc/articles/PMC8491503" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24124325">Achalasia: a review of clinical diagnosis, epidemiology, treatment and outcomes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">O'Neill OM,
Johnston BT,
Coleman HG</span><br />
<span class="medgenPMjournal">World J Gastroenterol</span>
2013 Sep 21;19(35):5806-12.
doi: 10.3748/wjg.v19.i35.5806.
<span class="bold">PMID: </span><a href="/pubmed/24124325" target="_blank">24124325</a><a href="/pmc/articles/PMC3793135" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21098406">Aspiration and swallowing in Parkinson disease and rehabilitation with EMST: a randomized trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Troche MS,
Okun MS,
Rosenbek JC,
Musson N,
Fernandez HH,
Rodriguez R,
Romrell J,
Pitts T,
Wheeler-Hegland KM,
Sapienza CM</span><br />
<span class="medgenPMjournal">Neurology</span>
2010 Nov 23;75(21):1912-9.
doi: 10.1212/WNL.0b013e3181fef115.
<span class="bold">PMID: </span><a href="/pubmed/21098406" target="_blank">21098406</a><a href="/pmc/articles/PMC2995389" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17885261">Dysphagia bedside screening for acute-stroke patients: the Gugging Swallowing Screen.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Trapl M,
Enderle P,
Nowotny M,
Teuschl Y,
Matz K,
Dachenhausen A,
Brainin M</span><br />
<span class="medgenPMjournal">Stroke</span>
2007 Nov;38(11):2948-52.
Epub 2007 Sep 20
doi: 10.1161/STROKEAHA.107.483933.
<span class="bold">PMID: </span><a href="/pubmed/17885261" target="_blank">17885261</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aspiration%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 (17820)</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/37012128">Meconium-stained amniotic fluid.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gallo DM,
Romero R,
Bosco M,
Gotsch F,
Jaiman S,
Jung E,
Suksai M,
Ramón Y Cajal CL,
Yoon BH,
Chaiworapongsa T</span><br />
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
2023 May;228(5S):S1158-S1178.
Epub 2023 Apr 1
doi: 10.1016/j.ajog.2022.11.1283.
<span class="bold">PMID: </span><a href="/pubmed/37012128" target="_blank">37012128</a><a href="/pmc/articles/PMC10291742" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<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/30977881">Acute osteomyelitis and septic arthritis in children: a systematic review of systematic reviews.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gigante A,
Coppa V,
Marinelli M,
Giampaolini N,
Falcioni D,
Specchia N</span><br />
<span class="medgenPMjournal">Eur Rev Med Pharmacol Sci</span>
2019 Apr;23(2 Suppl):145-158.
doi: 10.26355/eurrev_201904_17484.
<span class="bold">PMID: </span><a href="/pubmed/30977881" target="_blank">30977881</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24893784">Ultrasound assessment of gastric content and volume.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Van de Putte P,
Perlas A</span><br />
<span class="medgenPMjournal">Br J Anaesth</span>
2014 Jul;113(1):12-22.
Epub 2014 Jun 3
doi: 10.1093/bja/aeu151.
<span class="bold">PMID: </span><a href="/pubmed/24893784" target="_blank">24893784</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16269630">Dysphagia after stroke: incidence, diagnosis, and pulmonary complications.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Martino R,
Foley N,
Bhogal S,
Diamant N,
Speechley M,
Teasell R</span><br />
<span class="medgenPMjournal">Stroke</span>
2005 Dec;36(12):2756-63.
Epub 2005 Nov 3
doi: 10.1161/01.STR.0000190056.76543.eb.
<span class="bold">PMID: </span><a href="/pubmed/16269630" target="_blank">16269630</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aspiration%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 (1121)</a></div></div>
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