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diagnosis disease neurology pediatrics 21hydroxylasedeficiency 21ohd als amyotrophic differential endocrinology evaluation genetics hematology hemeonc hemophagocytic hlh incomplete kawasaki lateral lymphohistiocytosis
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... enzyme 21-OHase causes ... deficiencies present in infants ... Signs/Symptoms/Complications ... endocrinology #peds
Pott's Disease in Tuberculosis - Diagnosis and Management Summary Epidemiology: - Typically from TB endemic areas -
extrapulmonary cases ... Clinical Signs ... years - May have signs ... pain, numbness, decreased ... reflexes Pathophysiology
Evaluation of suspected incomplete Kawasaki Disease 1. AHA consensus recommendations 2. Infants ≤6 months old on day ≥7
Infants ≤6 months ... if they have no clinical ... lack of tapering, decreased ... and lab signs ( ... #Diagnosis #Peds
Amyotrophic Lateral Sclerosis (ALS) Summary ALS: combination of the clinical examination finding of amyotrophy with the pathologic
combination of the clinical ... lateral sclerosis Pathophysiology ... - Causes progressive ... - Fatigue and decreased ... neurology #diagnosis #management
Preoperative Risk Evaluation Major Pre-Op Questions: 1. Does the patient have any modifiable risk factors that could be
event, follow ACC algorithm ... Change in clinical ... are needed: • HgbA1c ... or death (CARP, DECREASE ... medical and surgical management
Transverse Myelitis Overview Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
monophasic Pathophysiology ... Transverse Myelitis - Clinical ... - Reflexes: decreased ... • Bilateral signs ... • Infectious causes
Hemophagocytic Lymphohistiocytosis (HLH) High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
hyperinflammatory syndrome caused ... Onset: Usually in infancy ... Clinical Presentation ... • Common Signs ... Pathophysiology
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