Sandbox:iqra: Difference between revisions

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* [[Hydrocephalus]]                 
* [[Hydrocephalus]]                 
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![[Spinal muscular atrophy]]
![[Spinal muscular atrophy]]<ref name="pmid26515624">{{cite journal| author=Kolb SJ, Kissel JT| title=Spinal Muscular Atrophy. | journal=Neurol Clin | year= 2015 | volume= 33 | issue= 4 | pages= 831-46 | pmid=26515624 | doi=10.1016/j.ncl.2015.07.004 | pmc=4628728 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26515624  }} </ref><ref name="pmid26022173">{{cite journal| author=Darras BT| title=Spinal muscular atrophies. | journal=Pediatr Clin North Am | year= 2015 | volume= 62 | issue= 3 | pages= 743-66 | pmid=26022173 | doi=10.1016/j.pcl.2015.03.010 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26022173  }} </ref><ref name="pmid22516079">{{cite journal| author=Mercuri E, Bertini E, Iannaccone ST| title=Childhood spinal muscular atrophy: controversies and challenges. | journal=Lancet Neurol | year= 2012 | volume= 11 | issue= 5 | pages= 443-52 | pmid=22516079 | doi=10.1016/S1474-4422(12)70061-3 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22516079  }} </ref>
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Revision as of 20:32, 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] - + + - +/- + + +/- +/-
  • Normal
 ↓O2, ↑CO2 Normal
Asphyxia[4][5][6] - + +/- - +/- + + +/- +/- ↓O2, ↑CO2 Normal
Chiari II malformation (Arnold-Chiari)[7][8][9] - + + - + + - - - Normal _ _ MRI Brain
Spinal muscular atrophy[10][11][12] - + + - +/- + + - - _ _ _ 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
 Normal ↓Vt, ↑RV

(anatomical)

  • Fluoroscopic "sniff" test (diaphragmatic movement is observed fluoroscopically while the patient sniffs forcefully)
Myasthenia gravis - + +/- - - + - - - ↓O2, ↑CO2
  • Anti-AChR ab
  • Anti–striated muscle ab
  • Anti-MuSK ab
 ↓FEV1,↓FVC

↓TLC

Muscular dystrophy[13][14] +/- + +/- - +/- +/- - +/- +/- ↓O2, ↑CO2 ↓FVC, ↓PEF
Pneumonia + + +/- + +/- +/- - - - Normal Lobar consolidation Normal Normal Productive cough
Aspiration +/- + +/- + +/- +/- + - - Normal ↓Vt, ↑RV Bronchoscopy
Obstructive sleep apnea[15] + + +/- - +/- + +/- +/- +/- ↓O2, ↑CO2 ↑FRC Polysomnography
Pulmonary hypoplasia - + +/- - +/- +/- + - - ↓O2, ↑CO2 ↑RV _
Metabolic alkalosis - + +/- - +/- +/- - +/- +/- _ ↓O2, ↑CO2 _ _ _
Sepsis - + - + +/- +/- - - - Normal ↓O2, ↑CO2 Normal Normal SIRS criteria
ROHHAD[16][17][18] - + +/- - +/- + +/- - - ↓O2, ↑CO2 ↓Vt _

Obstructive lung Diseases

Restrictive lung Diseases

Wheeze

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ 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.
  4. ↑ Gluckman PD, Wyatt JS, Azzopardi D, Ballard R, Edwards AD, Ferriero DM; et al. (2005). "Selective head cooling with mild systemic hypothermia after neonatal encephalopathy: multicentre randomised trial". Lancet. 365 (9460): 663–70. doi:10.1016/S0140-6736(05)17946-X. PMID 15721471.
  5. ↑ Shankaran S, Laptook AR, Ehrenkranz RA, Tyson JE, McDonald SA, Donovan EF; et al. (2005). "Whole-body hypothermia for neonates with hypoxic-ischemic encephalopathy". N Engl J Med. 353 (15): 1574–84. doi:10.1056/NEJMcps050929. PMID 16221780.
  6. ↑ Kluckow M (2011). "Functional echocardiography in assessment of the cardiovascular system in asphyxiated neonates". J Pediatr. 158 (2 Suppl): e13–8. doi:10.1016/j.jpeds.2010.11.007. PMID 21238700.
  7. ↑ Sarnat HB (2008). "Disorders of segmentation of the neural tube: Chiari malformations". Handb Clin Neurol. 87: 89–103. doi:10.1016/S0072-9752(07)87006-0. PMID 18809020.
  8. ↑ Marin-Padilla M, Marin-Padilla TM (1981). "Morphogenesis of experimentally induced Arnold--Chiari malformation". J Neurol Sci. 50 (1): 29–55. PMID 7229658.
  9. ↑ Gilbert JN, Jones KL, Rorke LB, Chernoff GF, James HE (1986). "Central nervous system anomalies associated with meningomyelocele, hydrocephalus, and the Arnold-Chiari malformation: reappraisal of theories regarding the pathogenesis of posterior neural tube closure defects". Neurosurgery. 18 (5): 559–64. PMID 3714003.
  10. ↑ Kolb SJ, Kissel JT (2015). "Spinal Muscular Atrophy". Neurol Clin. 33 (4): 831–46. doi:10.1016/j.ncl.2015.07.004. PMC 4628728. PMID 26515624.
  11. ↑ Darras BT (2015). "Spinal muscular atrophies". Pediatr Clin North Am. 62 (3): 743–66. doi:10.1016/j.pcl.2015.03.010. PMID 26022173.
  12. ↑ Mercuri E, Bertini E, Iannaccone ST (2012). "Childhood spinal muscular atrophy: controversies and challenges". Lancet Neurol. 11 (5): 443–52. doi:10.1016/S1474-4422(12)70061-3. PMID 22516079.
  13. ↑ 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.
  14. ↑ 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.
  15. ↑ 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.
  16. ↑ 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.
  17. ↑ FISHMAN LS, SAMSON JH, SPERLING DR (1965). "PRIMARY ALVEOLAR HYPOVENTILATION SYNDROME (ONDINE'S CURSE)". Am J Dis Child. 110: 155–61. PMID 14320765.
  18. ↑ 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.
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