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Aspiration

MedGen UID:
472619
Concept ID:
C0700198
Pathologic Function
Synonyms: Pulmonary aspiration
SNOMED CT: Pulmonary aspiration (68052005); Aspiration (68052005)
 
HPO: HP:0002835

Definition

Inspiration of a foreign object into the airway. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAspiration

Conditions with this feature

Tay-Sachs disease
MedGen UID:
11713
Concept ID:
C0039373
Disease or Syndrome
Hexosaminidase A deficiency results in a group of neurodegenerative disorders caused by intralysosomal storage of the specific glycosphingolipid, GM2 ganglioside. The prototype hexosaminidase A deficiency is Tay-Sachs disease, also known as the acute infantile variant. Tay-Sachs disease is characterized by progressive weakness, loss of motor skills, decreased attentiveness, and increased startle response beginning between ages three and six months with progressive evidence of neurodegeneration including: seizures, blindness, spasticity, eventual total incapacitation, and death, usually before age four years. The juvenile (subacute), chronic, and adult-onset variants of hexosaminidase A deficiency have later onsets, slower progression, and more variable neurologic findings, including: progressive dystonia, spinocerebellar degeneration, motor neuron disease, and, in some individuals with adult-onset disease, a bipolar form of psychosis.
Opitz-Frias syndrome
MedGen UID:
104493
Concept ID:
C0175696
Disease or Syndrome
X-linked Opitz G/BBB syndrome (XLOS) is a multiple congenital anomaly disorder characterized by facial anomalies (ocular hypertelorism, prominent forehead, widow's peak, broad nasal bridge, anteverted nares), laryngotracheoesophageal defects, and genitourinary abnormalities (hypospadias, cryptorchidism, and hypoplastic/bifid scrotum). Developmental delay and intellectual disability are observed in about 50% of affected males. Cleft lip and/or palate are present in approximately 50% of affected individuals. Other malformations present in fewer than 50% of individuals 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 carriers usually manifest only ocular hypertelorism.
Tay-Sachs disease, variant AB
MedGen UID:
78657
Concept ID:
C0268275
Disease or Syndrome
The GM2-gangliosidoses are a group of disorders caused by excessive accumulation of ganglioside GM2 and related glycolipids in the lysosomes, mainly of neuronal cells. GM2-gangliosidosis AB variant is characterized by normal hexosaminidase A (HEXA; 606869) and hexosaminidase B (HEXB; 606873) but the inability to form a functional GM2 activator complex. The clinical and biochemical phenotype of the AB variant is very similar to that of classic Tay-Sachs disease (see 272800) (Gravel et al., 2001).
Opitz G/BBB syndrome
MedGen UID:
321463
Concept ID:
C1801950
Disease or Syndrome
Features of the Opitz GBBB syndrome include hypertelorism or telecanthus; laryngotracheoesophageal cleft; clefts of lip, palate, and uvula; swallowing difficulty and hoarse cry; genitourinary defects, especially hypospadias in males and splayed labia majora in females; mental retardation; developmental delay; and congenital heart defects. The Opitz GBBB syndrome was earlier thought to be 2 separate X-linked syndromes called the G syndrome and the BBB syndrome; both were listed in the X-linked catalog as recently as the seventh edition of MIM (1986). The Opitz GBBB syndrome is genetically heterogeneous, with both autosomal dominant and X-linked (300000) forms. Robin et al. (1996) compared the phenotypic features of the X-linked and autosomal forms. They found that anteverted nares and posterior pharyngeal cleft were seen only in the X-linked form. However, all other manifestations of the syndrome, such as hypertelorism, swallowing difficulties, hypospadias, and developmental delay, were seen in both forms.
Hyperekplexia hereditary
MedGen UID:
332019
Concept ID:
C1835614
Disease or Syndrome
Hereditary hyperekplexia (HPX) is characterized by generalized stiffness immediately after birth that normalizes during the first years of life; excessive startle reflex (eye blinking and a flexor spasm of the trunk) to unexpected (particularly auditory) stimuli; and a short period of generalized stiffness following the startle response during which voluntary movements are impossible. Exaggerated head-retraction reflex (HRR) consisting of extension of the head followed by violent flexor spasms of limbs and neck muscles elicited by tapping the tip of the nose is observed in most children. Other findings include periodic limb movements in sleep (PLMS) and hypnagogic (occurring when falling asleep) myoclonus. Sudden infant death (SIDS) has been reported. Intellect is usually normal; mild intellectual disability may occur.
Myopathy, distal, 2
MedGen UID:
342950
Concept ID:
C1853723
Disease or Syndrome
Amyotrophic lateral sclerosis-21 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). For a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (105400).
Novak syndrome
MedGen UID:
349091
Concept ID:
C1859083
Disease or Syndrome
Pontine tegmental cap dysplasia
MedGen UID:
762040
Concept ID:
C3541340
Disease or Syndrome
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).

Recent clinical studies

Etiology

Miyata E, Tanaka A, Emori H, Taruya A, Miyai S, Sakagoshi N
Gen Thorac Cardiovasc Surg 2017 Feb;65(2):96-101. Epub 2016 Sep 9 doi: 10.1007/s11748-016-0710-8. PMID: 27613432
Scaparra E, Peschel O, Kirchhoff C, Reiser M, Kirchhoff SM
Eur J Med Res 2016 Nov 1;21(1):43. doi: 10.1186/s40001-016-0237-6. PMID: 27802829Free PMC Article
Akata K, Yatera K, Yamasaki K, Kawanami T, Naito K, Noguchi S, Fukuda K, Ishimoto H, Taniguchi H, Mukae H
BMC Pulm Med 2016 May 11;16(1):79. doi: 10.1186/s12890-016-0235-z. PMID: 27169775Free PMC Article
Piegeler T, Roessler B, Goliasch G, Fischer H, Schlaepfer M, Lang S, Ruetzler K
Resuscitation 2016 May;102:70-4. Epub 2016 Feb 26 doi: 10.1016/j.resuscitation.2016.02.017. PMID: 26921473
Fior-Gozlan M, Giovannini D, Rabeyrin M, Mc Leer-Florin A, Laverrière MH, Bichard P
Cancer Cytopathol 2016 May;124(5):330-9. Epub 2015 Dec 23 doi: 10.1002/cncy.21667. PMID: 26700399

Diagnosis

Miyata E, Tanaka A, Emori H, Taruya A, Miyai S, Sakagoshi N
Gen Thorac Cardiovasc Surg 2017 Feb;65(2):96-101. Epub 2016 Sep 9 doi: 10.1007/s11748-016-0710-8. PMID: 27613432
Olivecrona GK, Lagerqvist B, Fröbert O, Gudnason T, Maeng M, Råmunddal T, Haupt J, Kellerth T, Stewart J, Sarno G, Jensen J, Östlund O, James SK
BMC Cardiovasc Disord 2016 Apr 1;16:62. doi: 10.1186/s12872-016-0238-y. PMID: 27036735Free PMC Article
Fior-Gozlan M, Giovannini D, Rabeyrin M, Mc Leer-Florin A, Laverrière MH, Bichard P
Cancer Cytopathol 2016 May;124(5):330-9. Epub 2015 Dec 23 doi: 10.1002/cncy.21667. PMID: 26700399
Sakai K, Hirano H, Watanabe Y, Tohara H, Sato E, Sato K, Katakura A
J Oral Rehabil 2016 Feb;43(2):103-10. Epub 2015 Oct 3 doi: 10.1111/joor.12349. PMID: 26432521
Festic E, Soto JS, Pitre LA, Leveton M, Ramsey DM, Freeman WD, Heckman MG, Lee AS
Chest 2016 Mar;149(3):649-59. Epub 2016 Jan 12 doi: 10.1378/chest.15-0789. PMID: 26203916

Therapy

Miyata E, Tanaka A, Emori H, Taruya A, Miyai S, Sakagoshi N
Gen Thorac Cardiovasc Surg 2017 Feb;65(2):96-101. Epub 2016 Sep 9 doi: 10.1007/s11748-016-0710-8. PMID: 27613432
Gonçalves FC, Andres MP, Passman LJ, Gonçalves MO, Podgaec S
Int J Gynaecol Obstet 2016 Jul;134(1):3-7. Epub 2016 Mar 11 doi: 10.1016/j.ijgo.2015.10.021. PMID: 27039054
Olivecrona GK, Lagerqvist B, Fröbert O, Gudnason T, Maeng M, Råmunddal T, Haupt J, Kellerth T, Stewart J, Sarno G, Jensen J, Östlund O, James SK
BMC Cardiovasc Disord 2016 Apr 1;16:62. doi: 10.1186/s12872-016-0238-y. PMID: 27036735Free PMC Article
Piegeler T, Roessler B, Goliasch G, Fischer H, Schlaepfer M, Lang S, Ruetzler K
Resuscitation 2016 May;102:70-4. Epub 2016 Feb 26 doi: 10.1016/j.resuscitation.2016.02.017. PMID: 26921473
Studer P, Räber G, Ott D, Candinas D, Schnüriger B
Int J Surg 2016 Mar;27:21-5. Epub 2016 Jan 20 doi: 10.1016/j.ijsu.2016.01.043. PMID: 26804349

Prognosis

Miyata E, Tanaka A, Emori H, Taruya A, Miyai S, Sakagoshi N
Gen Thorac Cardiovasc Surg 2017 Feb;65(2):96-101. Epub 2016 Sep 9 doi: 10.1007/s11748-016-0710-8. PMID: 27613432
Fior-Gozlan M, Giovannini D, Rabeyrin M, Mc Leer-Florin A, Laverrière MH, Bichard P
Cancer Cytopathol 2016 May;124(5):330-9. Epub 2015 Dec 23 doi: 10.1002/cncy.21667. PMID: 26700399
Castellarnau M, García-Tejedor A, Carreras R, Cayuela E, Ponce J
J Minim Invasive Gynecol 2016 Feb 1;23(2):242-51. Epub 2015 Oct 21 doi: 10.1016/j.jmig.2015.10.006. PMID: 26496806
Sakai K, Hirano H, Watanabe Y, Tohara H, Sato E, Sato K, Katakura A
J Oral Rehabil 2016 Feb;43(2):103-10. Epub 2015 Oct 3 doi: 10.1111/joor.12349. PMID: 26432521
Festic E, Soto JS, Pitre LA, Leveton M, Ramsey DM, Freeman WD, Heckman MG, Lee AS
Chest 2016 Mar;149(3):649-59. Epub 2016 Jan 12 doi: 10.1378/chest.15-0789. PMID: 26203916

Clinical prediction guides

Miyata E, Tanaka A, Emori H, Taruya A, Miyai S, Sakagoshi N
Gen Thorac Cardiovasc Surg 2017 Feb;65(2):96-101. Epub 2016 Sep 9 doi: 10.1007/s11748-016-0710-8. PMID: 27613432
Gonçalves FC, Andres MP, Passman LJ, Gonçalves MO, Podgaec S
Int J Gynaecol Obstet 2016 Jul;134(1):3-7. Epub 2016 Mar 11 doi: 10.1016/j.ijgo.2015.10.021. PMID: 27039054
Studer P, Räber G, Ott D, Candinas D, Schnüriger B
Int J Surg 2016 Mar;27:21-5. Epub 2016 Jan 20 doi: 10.1016/j.ijsu.2016.01.043. PMID: 26804349
Fior-Gozlan M, Giovannini D, Rabeyrin M, Mc Leer-Florin A, Laverrière MH, Bichard P
Cancer Cytopathol 2016 May;124(5):330-9. Epub 2015 Dec 23 doi: 10.1002/cncy.21667. PMID: 26700399
Festic E, Soto JS, Pitre LA, Leveton M, Ramsey DM, Freeman WD, Heckman MG, Lee AS
Chest 2016 Mar;149(3):649-59. Epub 2016 Jan 12 doi: 10.1378/chest.15-0789. PMID: 26203916

Recent systematic reviews

Chang BA, Thamboo A, Burton MJ, Diamond C, Nunez DA
Cochrane Database Syst Rev 2016 Dec 23;12:CD006287. doi: 10.1002/14651858.CD006287.pub4. PMID: 28009937
Gonçalves FC, Andres MP, Passman LJ, Gonçalves MO, Podgaec S
Int J Gynaecol Obstet 2016 Jul;134(1):3-7. Epub 2016 Mar 11 doi: 10.1016/j.ijgo.2015.10.021. PMID: 27039054
Bruschettini M, Romantsik O, Ramenghi LA, Zappettini S, O'Donnell CP, Calevo MG
Cochrane Database Syst Rev 2016 Jan 11;(1):CD011724. doi: 10.1002/14651858.CD011724.pub2. PMID: 26751585
Barbon CE, Steele CM
Otolaryngol Head Neck Surg 2015 Feb;152(2):211-8. Epub 2014 Oct 30 doi: 10.1177/0194599814556239. PMID: 25358345Free PMC Article
Foocharoen T, Foocharoen C, Laopaiboon M, Tiamklang T
Cochrane Database Syst Rev 2014 Nov 22;(11):CD009949. doi: 10.1002/14651858.CD009949.pub2. PMID: 25416525

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