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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

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
Nogee LM
Curr Opin Pediatr 2019 Jun;31(3):330-339. doi: 10.1097/MOP.0000000000000751. PMID: 31090574Free PMC Article
Vatti RR, Teuber SS
Clin Rev Allergy Immunol 2012 Aug;43(1-2):45-56. doi: 10.1007/s12016-011-8277-8. PMID: 21858482
Keijzer R, Puri P
Semin Pediatr Surg 2010 Aug;19(3):180-5. doi: 10.1053/j.sempedsurg.2010.03.001. PMID: 20610190

Diagnosis

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
Lobo LJ, Zariwala MA, Noone PG
QJM 2014 Sep;107(9):691-9. Epub 2014 Mar 19 doi: 10.1093/qjmed/hcu063. PMID: 24652656
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
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
Lobo LJ, Zariwala MA, Noone PG
QJM 2014 Sep;107(9):691-9. Epub 2014 Mar 19 doi: 10.1093/qjmed/hcu063. PMID: 24652656
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

Newman B, Alkhori N
Pediatr Radiol 2020 Jul;50(8):1030-1040. Epub 2020 Jun 4 doi: 10.1007/s00247-020-04703-3. PMID: 32500159
Newman B, Alkhori N
Pediatr Radiol 2020 Jul;50(8):1022-1029. Epub 2020 May 30 doi: 10.1007/s00247-020-04690-5. PMID: 32474775
Nogee LM
Curr Opin Pediatr 2019 Jun;31(3):330-339. doi: 10.1097/MOP.0000000000000751. PMID: 31090574Free PMC Article
Solomon BD
Orphanet J Rare Dis 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. PMID: 21846383Free PMC Article
Keijzer R, Puri P
Semin Pediatr Surg 2010 Aug;19(3):180-5. doi: 10.1053/j.sempedsurg.2010.03.001. PMID: 20610190

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
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
Franssen FM, Alter P, Bar N, Benedikter BJ, Iurato S, Maier D, Maxheim M, Roessler FK, Spruit MA, Vogelmeier CF, Wouters EF, Schmeck B
Int J Chron Obstruct Pulmon Dis 2019;14:1465-1484. Epub 2019 Jul 9 doi: 10.2147/COPD.S175706. PMID: 31371934Free PMC Article
Lal CV, Bhandari V, Ambalavanan N
Semin Perinatol 2018 Nov;42(7):425-431. Epub 2018 Oct 2 doi: 10.1053/j.semperi.2018.09.004. PMID: 30487069Free PMC Article
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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