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Abnormal respiratory system physiology

MedGen UID:
220360
Concept ID:
C1260922
Finding
Synonyms: abnormal breathing; Functional respiratory abnormality
SNOMED CT: Abnormal breathing (386813002); Breathing abnormal (386813002); Breathing problem (386813002); Respiration abnormal (386813002)
 
HPO: HP:0002795

Definition

When you''re short of breath, it''s hard or uncomfortable for you to take in the oxygen your body needs. You may feel as if you''re not getting enough air. Sometimes you can have mild breathing problems because of a stuffy nose or intense exercise. But shortness of breath can also be a sign of a serious disease.CHAR(13) Many conditions can make you feel short of breath:CHAR(13) -Lung conditions such as asthma, emphysema, or pneumonia. CHAR(13) -Problems with your trachea or bronchi, which are part of your airway system. CHAR(13) -Heart disease can make you feel breathless if your heart cannot pump enough blood to supply oxygen to your body. CHAR(13) -Anxiety and panic attacks. CHAR(13) -Allergies. CHAR(13) If you often have trouble breathing, it is important to find out the cause.CHAR(13) [from MedlinePlus]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal respiratory system physiology

Conditions with this feature

5p partial monosomy syndrome
MedGen UID:
41345
Concept ID:
C0010314
Disease or Syndrome
Cri-du-chat syndrome was first described by Lejeune et al. (1963) as a hereditary congenital syndrome associated with deletion of part of the short arm of chromosome 5. The deletions can vary in size from extremely small and involving only band 5p15.2 to the entire short arm. Although the majority of deletions arise as new mutations, approximately 12% result from unbalanced segregation of translocations or recombination involving a pericentric inversion in one of the parents.
Immotile cilia syndrome due to defective radial spokes
MedGen UID:
137933
Concept ID:
C0340035
Disease or Syndrome

Professional guidelines

PubMed

McCarthy C, Gupta N, Johnson SR, Yu JJ, McCormack FX
Lancet Respir Med 2021 Nov;9(11):1313-1327. Epub 2021 Aug 27 doi: 10.1016/S2213-2600(21)00228-9. PMID: 34461049
Wiersinga WJ, Rhodes A, Cheng AC, Peacock SJ, Prescott HC
JAMA 2020 Aug 25;324(8):782-793. doi: 10.1001/jama.2020.12839. PMID: 32648899
Bitners AC, Arens R
Lung 2020 Apr;198(2):257-270. Epub 2020 Mar 12 doi: 10.1007/s00408-020-00342-5. PMID: 32166426Free PMC Article

Recent clinical studies

Etiology

Tonni G, Koçak Ç, Grisolia G, Rizzo G, Araujo Júnior E, Werner H, Ruano R, Sepulveda W, Bonasoni MP, Lituania M; “International Perinatology Research Group (IPRG)”
Fetal Pediatr Pathol 2023 Aug;42(4):651-674. Epub 2023 May 17 doi: 10.1080/15513815.2023.2206905. PMID: 37195727
Zani A, Chung WK, Deprest J, Harting MT, Jancelewicz T, Kunisaki SM, Patel N, Antounians L, Puligandla PS, Keijzer R
Nat Rev Dis Primers 2022 Jun 1;8(1):37. doi: 10.1038/s41572-022-00362-w. PMID: 35650272
Mandell E, Kinsella JP, Abman SH
Pediatr Pulmonol 2021 Mar;56(3):661-669. doi: 10.1002/ppul.25073. PMID: 32930508
Kothare SV, Singh K
Sleep Med 2014 Dec;15(12):1433-9. Epub 2014 Sep 3 doi: 10.1016/j.sleep.2014.08.005. PMID: 25311834
Vatti RR, Teuber SS
Clin Rev Allergy Immunol 2012 Aug;43(1-2):45-56. doi: 10.1007/s12016-011-8277-8. PMID: 21858482

Diagnosis

Dehner LP, Schultz KAP, Hill DA
Pediatr Dev Pathol 2023 May-Jun;26(3):241-249. Epub 2023 Feb 21 doi: 10.1177/10935266221146823. PMID: 37334833
Zani A, Chung WK, Deprest J, Harting MT, Jancelewicz T, Kunisaki SM, Patel N, Antounians L, Puligandla PS, Keijzer R
Nat Rev Dis Primers 2022 Jun 1;8(1):37. doi: 10.1038/s41572-022-00362-w. PMID: 35650272
Alvo A, Villarroel G, Sedano C
Eur Arch Otorhinolaryngol 2021 Oct;278(10):3605-3611. Epub 2021 Jan 3 doi: 10.1007/s00405-020-06546-y. PMID: 33388986
Agrawal A, Palkar A, Talwar A
Respir Med 2017 Aug;129:31-38. Epub 2017 May 31 doi: 10.1016/j.rmed.2017.05.016. PMID: 28732833
Solomon BD
Orphanet J Rare Dis 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. PMID: 21846383Free PMC Article

Therapy

Zani A, Chung WK, Deprest J, Harting MT, Jancelewicz T, Kunisaki SM, Patel N, Antounians L, Puligandla PS, Keijzer R
Nat Rev Dis Primers 2022 Jun 1;8(1):37. doi: 10.1038/s41572-022-00362-w. PMID: 35650272
Qian L, Mehrabi Nasab E, Athari SM, Athari SS
J Investig Med 2022 Apr;70(4):863-882. Epub 2022 Feb 15 doi: 10.1136/jim-2021-002098. PMID: 35168999Free PMC Article
Paff T, Omran H, Nielsen KG, Haarman EG
Int J Mol Sci 2021 Sep 11;22(18) doi: 10.3390/ijms22189834. PMID: 34575997Free PMC Article
Mandell E, Kinsella JP, Abman SH
Pediatr Pulmonol 2021 Mar;56(3):661-669. doi: 10.1002/ppul.25073. PMID: 32930508
Malerba M, Ragnoli B
Expert Opin Drug Metab Toxicol 2008 Aug;4(8):1119-29. doi: 10.1517/17425255.4.8.1119. PMID: 18680446

Prognosis

Axelsson GT, Gudmundsson G, Pratte KA, Aspelund T, Putman RK, Sanders JL, Gudmundsson EF, Hatabu H, Gudmundsdottir V, Gudjonsson A, Hino T, Hida T, Hobbs BD, Cho MH, Silverman EK, Bowler RP, Launer LJ, Jennings LL, Hunninghake GM, Emilsson V, Gudnason V
Am J Respir Crit Care Med 2022 Aug 1;206(3):337-346. doi: 10.1164/rccm.202110-2296OC. PMID: 35438610Free PMC Article
Nogee LM
Curr Opin Pediatr 2019 Jun;31(3):330-339. doi: 10.1097/MOP.0000000000000751. PMID: 31090574Free PMC Article
Sobol SE
Curr Probl Pediatr Adolesc Health Care 2018 Mar;48(3):82-84. doi: 10.1016/j.cppeds.2018.01.007. PMID: 29571545
Triebwasser JE, Treadwell MC
Semin Fetal Neonatal Med 2017 Aug;22(4):245-249. Epub 2017 Mar 18 doi: 10.1016/j.siny.2017.03.001. PMID: 28325581
Solomon BD
Orphanet J Rare Dis 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. PMID: 21846383Free PMC Article

Clinical prediction guides

Dehner LP, Schultz KAP, Hill DA
Pediatr Dev Pathol 2023 May-Jun;26(3):241-249. Epub 2023 Feb 21 doi: 10.1177/10935266221146823. PMID: 37334833
Axelsson GT, Gudmundsson G, Pratte KA, Aspelund T, Putman RK, Sanders JL, Gudmundsson EF, Hatabu H, Gudmundsdottir V, Gudjonsson A, Hino T, Hida T, Hobbs BD, Cho MH, Silverman EK, Bowler RP, Launer LJ, Jennings LL, Hunninghake GM, Emilsson V, Gudnason V
Am J Respir Crit Care Med 2022 Aug 1;206(3):337-346. doi: 10.1164/rccm.202110-2296OC. PMID: 35438610Free PMC Article
Danopoulos S, Deutsch GH, Dumortier C, Mariani TJ, Al Alam D
Am J Physiol Lung Cell Mol Physiol 2021 Nov 1;321(5):L892-L899. Epub 2021 Sep 1 doi: 10.1152/ajplung.00434.2020. PMID: 34469245Free PMC Article
Triebwasser JE, Treadwell MC
Semin Fetal Neonatal Med 2017 Aug;22(4):245-249. Epub 2017 Mar 18 doi: 10.1016/j.siny.2017.03.001. PMID: 28325581
Funamura JL, Sykes JM
Facial Plast Surg Clin North Am 2014 Nov;22(4):503-8. Epub 2014 Nov 8 doi: 10.1016/j.fsc.2014.07.005. PMID: 25444724

Recent systematic reviews

Alilou S, Zangiabadian M, Pouramini A, Jaberinezhad M, Shobeiri P, Ghozy S, Haseli S, Beizavi Z
Acad Radiol 2023 Dec;30(12):3076-3085. Epub 2023 Jun 6 doi: 10.1016/j.acra.2023.06.002. PMID: 37491177Free PMC Article
Kazachkov M, Palma JA, Norcliffe-Kaufmann L, Bar-Aluma BE, Spalink CL, Barnes EP, Amoroso NE, Balou SM, Bess S, Chopra A, Condos R, Efrati O, Fitzgerald K, Fridman D, Goldenberg RM, Goldhaber A, Kaufman DA, Kothare SV, Levine J, Levy J, Lubinsky AS, Maayan C, Moy LC, Rivera PJ, Rodriguez AJ, Sokol G, Sloane MF, Tan T, Kaufmann H
Respir Med 2018 Aug;141:37-46. Epub 2018 Jun 21 doi: 10.1016/j.rmed.2018.06.017. PMID: 30053970Free PMC Article
Alldred SK, Takwoingi Y, Guo B, Pennant M, Deeks JJ, Neilson JP, Alfirevic Z
Cochrane Database Syst Rev 2017 Mar 15;3(3):CD012600. doi: 10.1002/14651858.CD012600. PMID: 28295158Free PMC Article
Neelapu BC, Kharbanda OP, Sardana HK, Balachandran R, Sardana V, Kapoor P, Gupta A, Vasamsetti S
Sleep Med Rev 2017 Feb;31:79-90. Epub 2016 Jan 30 doi: 10.1016/j.smrv.2016.01.007. PMID: 27039222
Steinhorn RH
Pediatr Crit Care Med 2010 Mar;11(2 Suppl):S79-84. doi: 10.1097/PCC.0b013e3181c76cdc. PMID: 20216169Free PMC Article

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