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| 1. SOB
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| 2. Chest pain
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| 3. Cough
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| 4. Cyanosis
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| == Tachypnea ==
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|
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| == Bradypnea ==
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| {| class="wikitable"
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| ! rowspan="3" |Diseases
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| ! colspan="10" |Clinical manifestations
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| ! colspan="5" rowspan="2" |Diagnosis
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| ! rowspan="3" |Associated features
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| |-
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| ! colspan="6" |Symptoms
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| ! colspan="4" |Physical exam
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| |-
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| !Chest pain
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| !Dyspnea
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| !Orthopnea
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| !Fever
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| !Palpitations
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| !Poor
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| quality sleep
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| !Cyanosis
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| !JVD
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| !Peripheral edema
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| !Auscultation
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| !ABGs
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| !Lab findings
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| !Imaging
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| !Spirometry
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| !Gold standard
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| |-
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| ![[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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| !-
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| !+
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| !+
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| !-
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| !+/-
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| !+
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| !+
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| !+/-
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| !+/-
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| !
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| * Normal
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| !↓[[Oxygen|O2]], ↑[[CO2]]
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| !
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| * [[PHOX2B]] [[Screening test|screening testing]] via fragment analysis or sequencing tests
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| * [[Polysomnography]]
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| !
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| * [[Brain imaging|Brain MRI]] (exclude other [[Brainstem|brainstem lesions]])
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| !Normal
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| !
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| * [[PHOX2B|Molecular testing for PHOX2B mutations]]
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| !
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| * [[Hirschsprung's disease|Hirschsprung disease]]
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| * [[Neural crest cell|Neural crest tumors]]
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| * Box-shaped face
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| * [[Meiosis]]
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| * [[Strabismus]]
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| |-
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| ![[Asphyxia]]
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| !-
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| !+
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| !+/-
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| !-
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| !+/-
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| !+
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| !+
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| !+/-
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| !+/-
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| !
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| * [[Systolic murmurs|Systolic murmur]]
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| !↓[[Oxygen|O2]], ↑[[CO2]]
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| !
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| * Abnormal [[renal function tests]]
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|
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| * [[Cardiac troponin I (cTnI) and T (cTnT)|Cardiac troponin T and I ↑]]
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| !
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| * [[Chest X-ray|CXR]] typically shows [[cardiomegaly]]
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| * [[Echocardiography]] (to exclude other [[Structural heart diseases|structural heart diseases]])
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| !Normal
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| !
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| * The fetal [[Biophysical profile|biophysical profile score (BPS)]] shows loss of [[Acceleration|accelerations of the fetal heart rate]], decreased body movement, [[breathing]], [[hypotonia]] and decreased [[Amniotic fluid|amniotic fluid volume]]
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| !
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| * [[Acute respiratory distress syndrome|Acute respiratory distress syndrome (RDS)]]
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| * [[Meconium aspiration syndrome|Meconium aspiration syndrome (MAS)]]
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| * [[Necrotizing enterocolitis]]
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| |-
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| ![[Arnold-Chiari malformation|Chiari II malformation (Arnold-Chiari)]]
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| !-
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| !+
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| !+
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| !-
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| !+
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| !+
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| !-
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| !-
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| !-
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| !
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| * [[Stridor]]
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| !Normal
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| !_
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| !
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| * [[Ct scan|CT Scan of Brain]] ([[hydrocephalus]], [[Cerebellar tonsill herniation|herniated cerebellar tonsils]], and a [[Spinal cord|flattened spinal cord]])
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| !_
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| ![[MRI|MRI Brain]]
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| !
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| * [[Myelomeningocele]]
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| * [[Hydrocephalus]]
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| |-
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| ![[Spinal muscular atrophy]]
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| !-
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| !+
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| !+
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| !-
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| !+/-
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| !+
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| !+
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| !-
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| !-
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| !
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| * [[Stridor]]
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| !_
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| !
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| * [[Electromyography]] shows [[Fibrillation|fibrillations]] and positive sharp waves
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| !_
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| !_
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| ![[Genetic testing|Molecular genetic testing]] by detection of [[homozygous]] [[Deletion (genetics)|deletions]] of [[exons]] 7 of the [[SMN1|SMN1 gene]]
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| !
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| * Progressive [[muscle weakness]] and [[atrophy]]
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| |-
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| ![[Guillain-Barré syndrome]]
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| !-
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| !+
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| !+/-
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| !-
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| !+
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| !+/-
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| !-
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| !-
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| !-
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| !
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| * [[Decreased breath sounds|Diminished breath sounds]]
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| * [[Diminished bowel sounds|Absence of bowel sound]]
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| !↓[[Oxygen|O2]], ↑[[Carbon dioxide|CO2]]
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| !
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| * Albuminocytologic [[Dissociation (chemistry)|dissociation]] on [[CSF analysis]]
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| !
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| * [[MRI]] shows [[Anterior nerve roots|selective anterior nerve root enhancement]]
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| !↓[[FEV1]]
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|
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| ↓[[FVC]]
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|
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| ↓[[Total lung capacity|TLC]]
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| !
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| * [[Nerve conduction studies|Nerve conduction studies (NCS)]] and [[EMG|needle electromyography (EMG)]]
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| !
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| * Preceded by mild [[respiratory]] or [[Gastrointestinal tract|GIT infection]]
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| * Ascending fashion of [[weakness]]
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| |-
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| ![[Phrenic nerve paralysis|Phrenic nerve injury]]
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| !+/-
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| !+
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| !+
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| !+/-
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| !-
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| !+/-
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| !-
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| !-
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| !-
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| !
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| * Normal
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| !Normal
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| !
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| * [[Complete blood count|CBC]] (to rule out [[anemia]] as the cause of [[dyspnea]])
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| * [[Thyroid function tests|Thyroid function tests]]
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| !
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| * [[Chest X-ray|CXR]] shows unilateral or bilateral [[Diaphragmatic dysfunction|diaphragmatic flattening]]
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| !↓[[Tidal volume|Vt]], ↑[[RV]]
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|
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| [[Anatomical|(anatomical)]]
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| !
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| * Fluoroscopic "sniff" test ([[Thoracic diaphragm|diaphragmatic]] movement is observed fluoroscopically while the patient sniffs forcefully)
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| !
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| * [[Respiratory system|Respiratory]] insufficiency
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| |-
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| ![[Myasthenia gravis]]
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| !-
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| !+
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| !+/-
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| !-
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| !-
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| !+
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| !-
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| !-
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| !-
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| !
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| * [[Abdominal breathing|Paradoxical abdominal breathing]]
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| !↓[[Oxygen|O2]], ↑[[Carbon dioxide|CO2]]
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| !
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| * Anti-AChR ab
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| * Anti–striated muscle ab
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| * Anti-MuSK ab
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| !
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| * [[CT-scans|CT]] may show [[Anterior mediastinum|anterior mediastinal mass]] ([[thymoma]])
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| !↓[[FEV1]],↓[[FVC]]
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|
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| ↓[[Total lung capacity|TLC]]
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| !
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| * Anti–[[acetylcholine receptor]] [[antibody test]]
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| !
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| * [[Ptosis]]
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| * [[Diplopia]]
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| * [[Fatigue]]
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| |-
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| ![[Muscular dystrophy]]<ref name="pmid7699962">{{cite journal| author=Takasugi T, Ishihara T, Kawamura J, Sasaki K, Toyoda T, Oosumi M et al.| title=[Blood gas changes in Duchenne type muscular dystrophy]. | journal=Nihon Kyobu Shikkan Gakkai Zasshi | year= 1995 | volume= 33 | issue= 1 | pages= 17-22 | pmid=7699962 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7699962 }} </ref><ref name="pmid25755201">{{cite journal| author=Mayer OH, Finkel RS, Rummey C, Benton MJ, Glanzman AM, Flickinger J et al.| title=Characterization of pulmonary function in Duchenne Muscular Dystrophy. | journal=Pediatr Pulmonol | year= 2015 | volume= 50 | issue= 5 | pages= 487-94 | pmid=25755201 | doi=10.1002/ppul.23172 | pmc=4402127 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25755201 }} </ref>
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| !+/-
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| !+
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| !+/-
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| !-
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| !+/-
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| !+/-
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| !-
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| !+/-
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| !+/-
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| !
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| * [[Midsystolic murmur|Mid-systolic murmur]]
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| !↓[[Oxygen|O2]], ↑[[Carbon dioxide|CO2]]
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| !
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| * [[CPK elevation|Elevated CPK levels]]
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| * [[ECG]] shows [[right ventricular strain]]
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| !
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| * [[Ultrasonography]] shows [[Echogenicity|increased echogenicity]] in the affected [[Muscle|muscles]]
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| !↓[[FVC]], ↓[[Peak expiratory flow|PEF]]
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| !
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| * [[Genetic testing]] for [[Dystrophin|mutation of the dystrophin gene (DMD)]]
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| !
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| * Waddling, wide- based [[gait]]
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| * [[Gowers' sign|Gower sign]]
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| |-
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| ![[Pneumonia]]
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| !+
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| !+
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| !+/-
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| !+
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| !+/-
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| !+/-
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| !-
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| !-
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| !-
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| !
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| * [[Wheeze]], [[Rhonchi]] and [[Crackles]]
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| !Normal
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| !
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| * [[Neutrophilia|↑WBC (neutrophilia)]]
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| ![[Lobar pneumonia|Lobar consolidation]]
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| !Normal
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| !Normal
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| ![[Productive cough]]
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| |-
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| ![[Aspiration pneumonia|Aspiration]]
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| !+/-
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| !+
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| !+/-
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| !+
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| !+/-
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| !+/-
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| !+
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| !-
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| !-
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| !
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| * [[Decreased breath sounds|Diminished breath sounds]]
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| !Normal
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| !
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| * [[WBC|↑WBC]]
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| * [[Blood cultures]]
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| !
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| * [[Chest X-ray|CXR]] shows [[atelectasis]]
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| !↓[[Tidal volume|Vt]], ↑[[Residual volume|RV]]
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| ![[Bronchoscopy]]
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| !
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| * [[Choking]]
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| |-
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| ![[Obstructive sleep apnea]]<ref name="pmid26209328">{{cite journal| author=Abdeyrim A, Zhang Y, Li N, Zhao M, Wang Y, Yao X et al.| title=Impact of obstructive sleep apnea on lung volumes and mechanical properties of the respiratory system in overweight and obese individuals. | journal=BMC Pulm Med | year= 2015 | volume= 15 | issue= | pages= 76 | pmid=26209328 | doi=10.1186/s12890-015-0063-6 | pmc=4513967 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26209328 }} </ref>
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| !+
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| !+
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| !+/-
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| !-
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| !+/-
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| !+
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| !+/-
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| !+/-
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| !+/-
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| !
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| * [[Wheeze]]
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| * [[Systolic ejection murmur|Systolic ejection murmur]]
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| !↓[[Oxygen|O2]], ↑[[Carbon dioxide|CO2]]
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| !
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| * [[Polysomnography]]
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| !
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| * [[MRI]] shows [[enlarged adenoids]], [[tonsils]] and [[soft palate]]
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| !↑FRC
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| ![[Polysomnography]]
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| !
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| * [[Snoring|Loud snoring]]
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|
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| * [[Depression]]
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| * [[Hypertension]]
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| * [[Coronary heart disease|Coronary artery disease]]
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| |-
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| !Pulmonary hypoplasia
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| !-
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| !+
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| !+/-
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| !-
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| !+/-
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| !+/-
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| !+
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| !-
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| !-
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| !
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| * [[Diminished bowel sounds|Breath sounds may be decreased or absent]] on the side of [[hypoplasia]]
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| !↓[[Oxygen|O2]], ↑[[Carbon dioxide|CO2]]
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| !
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| * [[Basic metabolic panel|Abnormal BMP]]
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| * [[Echocardiography]] is done to rule out [[cardiac]] [[complications]]
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| !
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| * [[Chest X-ray|CXR]] shows crowded [[ribs]] and low thoracic-to- abdominal ratio
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| * [[CT scan]] of [[chest]]
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| !↑[[Residual volume|RV]]
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| !_
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| !
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| * [[Myopathic|Myopathic facies]]
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| |-
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| ![[Metabolic alkalosis]]
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| !-
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| !+
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| !+/-
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| !-
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| !+/-
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| !+/-
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| !-
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| !+/-
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| !+/-
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| !_
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| !↓[[Oxygen|O2]], ↑[[Carbon dioxide|CO2]]
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| !
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| * [[Anion gap|Serum Anion Gap]] is elevated
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| * [[Electrolyte disturbance|Abnormal Urine Sodium Ion Concentration]]
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| !_
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| !_
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| !_
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| !
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| * [[Hypokalemia]]
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| |-
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| ![[Sepsis]]
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| !-
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| !+
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| !-
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| !+
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| !+/-
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| !+/-
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| !-
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| !-
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| !-
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| !Normal
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| !↓[[Oxygen|O2]], ↑[[Carbon dioxide|CO2]]
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| !
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| * [[Neutrophilia|CBC shows ↑WBC (neutrophilia)]]
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| !Normal
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| !Normal
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| ![[SIRS|SIRS criteria]]
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| !
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| * [[Chills]]
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| * [[Confusion]]
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| |-
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| !ROHHAD<ref name="pmid3991276">{{cite journal| author=duRivage SK, Winter RJ, Brouillette RT, Hunt CE, Noah Z| title=Idiopathic hypothalamic dysfunction and impaired control of breathing. | journal=Pediatrics | year= 1985 | volume= 75 | issue= 5 | pages= 896-8 | pmid=3991276 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3991276 }} </ref><ref name="pmid14320765">{{cite journal| author=FISHMAN LS, SAMSON JH, SPERLING DR| title=PRIMARY ALVEOLAR HYPOVENTILATION SYNDROME (ONDINE'S CURSE). | journal=Am J Dis Child | year= 1965 | volume= 110 | issue= | pages= 155-61 | pmid=14320765 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14320765 }} </ref><ref name="pmid20727534">{{cite journal| author=Paz-Priel I, Cooke DW, Chen AR| title=Cyclophosphamide for rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome. | journal=J Pediatr | year= 2011 | volume= 158 | issue= 2 | pages= 337-9 | pmid=20727534 | doi=10.1016/j.jpeds.2010.07.006 | pmc=3976575 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20727534 }} </ref>
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| !-
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| !+
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| !+/-
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| !-
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| !+/-
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| !+
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| !+/-
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| !-
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| !-
| |
| !
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| * [[Displaced point of maximal impulse|Displaced cardiac impulse]]
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|
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| * [[P2|Loud pulmonic second heart sound]]
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| !↓[[Oxygen|O2]], ↑[[Carbon dioxide|CO2]]
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| !
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| * [[Serum bicarbonate|Abnormal Serum bicarbonate levels]]
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| * [[Polysomnography|Attended laboratory nocturnal polysomnography]]
| |
| !
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| * [[Lateral]] [[neck]] [[Radiography|radiographs]] shows [[Airway constriction|airway narrowing]]
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| * [[Chest X-ray|CXR]] shows [[Chest wall deformities|chest wall deformity]]
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| !↓[[Tidal volume|Vt]]
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| !_
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| !
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| * [[Hypothalamus|Hypothalamic]] [[Endocrine system|endocrine]] manifestations
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| * [[Tumors]] of [[Neural crest cell|neural crest origin]]
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| |}
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|
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| == Obstructive lung Diseases ==
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|
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| == Restrictive lung Diseases ==
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|
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| == Wheeze ==
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| <references />
| |