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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.
See: Condition Record
Immotile cilia syndrome due to defective radial spokes
MedGen UID:
137933
•Concept ID:
C0340035
•
Disease or Syndrome
See: Condition Record
5p partial monosomy syndrome
Immotile cilia syndrome due to defective radial spokes

Professional guidelines

PubMed

Lymphangioleiomyomatosis: pathogenesis, clinical features, diagnosis, and management.
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
Pathophysiology, Transmission, Diagnosis, and Treatment of Coronavirus Disease 2019 (COVID-19): A Review.
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
Evaluation and Management of Children with Obstructive Sleep Apnea Syndrome.
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

Congenital diaphragmatic hernia.
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
Persistent pulmonary hypertension of the newborn.
Mandell E, Kinsella JP, Abman SH
Pediatr Pulmonol 2021 Mar;56(3):661-669. doi: 10.1002/ppul.25073. PMID: 32930508
Genetic causes of surfactant protein abnormalities.
Nogee LM
Curr Opin Pediatr 2019 Jun;31(3):330-339. doi: 10.1097/MOP.0000000000000751. PMID: 31090574Free PMC Article
Cardiorespiratory abnormalities during epileptic seizures.
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
Kartagener's Syndrome.
Dhar DK, Ganguly KC, Alam S, Hossain A, Sarker UK, Das BK, Haque MJ
Mymensingh Med J 2009 Jan;18(1):75-9. PMID: 19182755

Diagnosis

Congenital diaphragmatic hernia.
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
Neonatal nasal obstruction.
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
Congenital diaphragmatic hernia-associated pulmonary hypertension.
Gupta VS, Harting MT
Semin Perinatol 2020 Feb;44(1):151167. Epub 2019 Jul 30 doi: 10.1053/j.semperi.2019.07.006. PMID: 31519366
The multiple dimensions of Platypnea-Orthodeoxia syndrome: A review.
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
VACTERL/VATER Association.
Solomon BD
Orphanet J Rare Dis 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. PMID: 21846383Free PMC Article

Therapy

Congenital diaphragmatic hernia.
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
Current and Future Treatments in Primary Ciliary Dyskinesia.
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
Persistent pulmonary hypertension of the newborn.
Mandell E, Kinsella JP, Abman SH
Pediatr Pulmonol 2021 Mar;56(3):661-669. doi: 10.1002/ppul.25073. PMID: 32930508
Primary ciliary dyskinesia.
Lobo LJ, Zariwala MA, Noone PG
QJM 2014 Sep;107(9):691-9. Epub 2014 Mar 19 doi: 10.1093/qjmed/hcu063. PMID: 24652656
Ambroxol in the 21st century: pharmacological and clinical update.
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

Congenital central pulmonary artery anomalies: Part 2.
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
Congenital central pulmonary artery anomalies: Part 1.
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
Genetic causes of surfactant protein abnormalities.
Nogee LM
Curr Opin Pediatr 2019 Jun;31(3):330-339. doi: 10.1097/MOP.0000000000000751. PMID: 31090574Free PMC Article
Pulmonary complications of abdominal wall defects.
Panitch HB
Paediatr Respir Rev 2015 Jan;16(1):11-7. Epub 2014 Oct 23 doi: 10.1016/j.prrv.2014.10.004. PMID: 25458796
VACTERL/VATER Association.
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

Lung disease manifestations in Down syndrome.
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
Personalized medicine for patients with COPD: where are we?
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
Genomics, microbiomics, proteomics, and metabolomics in bronchopulmonary dysplasia.
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
Prenatal prediction of pulmonary hypoplasia.
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
Pediatric septorhinoplasty.
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

Digestive system manifestations and clinical significance of coronavirus disease 2019: A systematic literature review.
Ye L, Yang Z, Liu J, Liao L, Wang F
J Gastroenterol Hepatol 2021 Jun;36(6):1414-1422. Epub 2020 Dec 22 doi: 10.1111/jgh.15323. PMID: 33150978
Respiratory care in familial dysautonomia: Systematic review and expert consensus recommendations.
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
First trimester ultrasound tests alone or in combination with first trimester serum tests for Down's syndrome screening.
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
Craniofacial and upper airway morphology in adult obstructive sleep apnea patients: A systematic review and meta-analysis of cephalometric studies.
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
Neonatal pulmonary hypertension.
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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