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![[Congenital central hypoventilation syndrome|Central hypoventilation syndrome CHS]] | ![[Congenital central hypoventilation syndrome|Central hypoventilation syndrome CHS]]<ref name="pmid12640453">{{cite journal| author=Amiel J, Laudier B, Attié-Bitach T, Trang H, de Pontual L, Gener B et al.| title=Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. | journal=Nat Genet | year= 2003 | volume= 33 | issue= 4 | pages= 459-61 | pmid=12640453 | doi=10.1038/ng1130 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12640453 }} </ref><ref name="pmid14608649">{{cite journal| author=Weese-Mayer DE, Berry-Kravis EM, Zhou L, Maher BS, Silvestri JM, Curran ME et al.| title=Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b. | journal=Am J Med Genet A | year= 2003 | volume= 123A | issue= 3 | pages= 267-78 | pmid=14608649 | doi=10.1002/ajmg.a.20527 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14608649 }} </ref><ref name="pmid1256944">{{cite journal| author=Shannon DC, Marsland DW, Gould JB, Callahan B, Todres ID, Dennis J| title=Central hypoventilation during quiet sleep in two infants. | journal=Pediatrics | year= 1976 | volume= 57 | issue= 3 | pages= 342-6 | pmid=1256944 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1256944 }} </ref> | ||
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Revision as of 20:21, 23 February 2018
1. SOB 2. Chest pain 3. Cough 4. Cyanosis
Tachypnea
Bradypnea
Diseases | Clinical manifestations | Diagnosis | Associated features | |||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Symptoms | Physical exam | |||||||||||||||
Chest pain | Dyspnea | Orthopnea | Fever | Palpitations | Poor
quality sleep |
Cyanosis | JVD | Peripheral edema | Auscultation | ABGs | Lab findings | Imaging | Spirometry | Gold standard | ||
Central hypoventilation syndrome CHS[1][2][3] | - | + | + | - | +/- | + | + | +/- | +/- |
|
↓O2, ↑CO2 |
|
|
Normal |
| |
Asphyxia | - | + | +/- | - | +/- | + | + | +/- | +/- | ↓O2, ↑CO2 |
|
|
Normal |
|
||
Chiari II malformation (Arnold-Chiari) | - | + | + | - | + | + | - | - | - | Normal | _ | _ | MRI Brain | |||
Spinal muscular atrophy | - | + | + | - | +/- | + | + | - | - | _ |
|
_ | _ | Molecular genetic testing by detection of homozygous deletions of exons 7 of the SMN1 gene |
| |
Guillain-Barré syndrome | - | + | +/- | - | + | +/- | - | - | - | ↓O2, ↑CO2 |
|
↓FEV1
↓FVC ↓TLC |
| |||
Phrenic nerve injury | +/- | + | + | +/- | - | +/- | - | - | - |
|
Normal |
|
|
↓Vt, ↑RV |
|
|
Myasthenia gravis | - | + | +/- | - | - | + | - | - | - | ↓O2, ↑CO2 |
|
|
↓FEV1,↓FVC
↓TLC |
|||
Muscular dystrophy[4][5] | +/- | + | +/- | - | +/- | +/- | - | +/- | +/- | ↓O2, ↑CO2 |
|
↓FVC, ↓PEF |
| |||
Pneumonia | + | + | +/- | + | +/- | +/- | - | - | - | Normal | Lobar consolidation | Normal | Normal | Productive cough | ||
Aspiration | +/- | + | +/- | + | +/- | +/- | + | - | - | Normal |
|
↓Vt, ↑RV | Bronchoscopy | |||
Obstructive sleep apnea[6] | + | + | +/- | - | +/- | + | +/- | +/- | +/- | ↓O2, ↑CO2 |
|
↑FRC | Polysomnography | |||
Pulmonary hypoplasia | - | + | +/- | - | +/- | +/- | + | - | - |
|
↓O2, ↑CO2 |
|
↑RV | _ | ||
Metabolic alkalosis | - | + | +/- | - | +/- | +/- | - | +/- | +/- | _ | ↓O2, ↑CO2 | _ | _ | _ | ||
Sepsis | - | + | - | + | +/- | +/- | - | - | - | Normal | ↓O2, ↑CO2 | Normal | Normal | SIRS criteria | ||
ROHHAD[7][8][9] | - | + | +/- | - | +/- | + | +/- | - | - | ↓O2, ↑CO2 |
|
↓Vt | _ |
|
Obstructive lung Diseases
Restrictive lung Diseases
Wheeze
- ↑ Amiel J, Laudier B, Attié-Bitach T, Trang H, de Pontual L, Gener B; et al. (2003). "Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome". Nat Genet. 33 (4): 459–61. doi:10.1038/ng1130. PMID 12640453.
- ↑ Weese-Mayer DE, Berry-Kravis EM, Zhou L, Maher BS, Silvestri JM, Curran ME; et al. (2003). "Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b". Am J Med Genet A. 123A (3): 267–78. doi:10.1002/ajmg.a.20527. PMID 14608649.
- ↑ Shannon DC, Marsland DW, Gould JB, Callahan B, Todres ID, Dennis J (1976). "Central hypoventilation during quiet sleep in two infants". Pediatrics. 57 (3): 342–6. PMID 1256944.
- ↑ Takasugi T, Ishihara T, Kawamura J, Sasaki K, Toyoda T, Oosumi M; et al. (1995). "[Blood gas changes in Duchenne type muscular dystrophy]". Nihon Kyobu Shikkan Gakkai Zasshi. 33 (1): 17–22. PMID 7699962.
- ↑ Mayer OH, Finkel RS, Rummey C, Benton MJ, Glanzman AM, Flickinger J; et al. (2015). "Characterization of pulmonary function in Duchenne Muscular Dystrophy". Pediatr Pulmonol. 50 (5): 487–94. doi:10.1002/ppul.23172. PMC 4402127. PMID 25755201.
- ↑ Abdeyrim A, Zhang Y, Li N, Zhao M, Wang Y, Yao X; et al. (2015). "Impact of obstructive sleep apnea on lung volumes and mechanical properties of the respiratory system in overweight and obese individuals". BMC Pulm Med. 15: 76. doi:10.1186/s12890-015-0063-6. PMC 4513967. PMID 26209328.
- ↑ duRivage SK, Winter RJ, Brouillette RT, Hunt CE, Noah Z (1985). "Idiopathic hypothalamic dysfunction and impaired control of breathing". Pediatrics. 75 (5): 896–8. PMID 3991276.
- ↑ FISHMAN LS, SAMSON JH, SPERLING DR (1965). "PRIMARY ALVEOLAR HYPOVENTILATION SYNDROME (ONDINE'S CURSE)". Am J Dis Child. 110: 155–61. PMID 14320765.
- ↑ Paz-Priel I, Cooke DW, Chen AR (2011). "Cyclophosphamide for rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome". J Pediatr. 158 (2): 337–9. doi:10.1016/j.jpeds.2010.07.006. PMC 3976575. PMID 20727534.