27 results
diagnosis symptoms pediatrics management complications differential neurology syndrome algorithm cellulitis clinical glaucoma iem inbornerrors metabolism neonatology nicu otitismedia rheumatology table
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... presentations in acute ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Neonatology #Peds
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
for diagnosing acute ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Retinoblastoma: Pathogenesis and clinical findings • Sporadic mutation -> One allele of RB1 tumor suppressor gene
Retinoblastoma Signs ... - Decreased visual ... Retinoblastoma #pathophysiology ... #ophthalmology ... #diagnosis #signs
Keratoconus: Pathogenesis and Clinical Findings Genetics • Family history of keratoconus • Ehlers-Danlos syndrome • Down, Turner,
Clinical Findings Genetics ... > Keratoconus Signs ... • Rizutti's Sign ... #Keratoconus #pathophysiology ... #ophthalmology
Acute Otitis Media: Complications Infection and inflammation of the middle ear - Prolonged obstruction of e. tube
Acute Otitis Media ... middle ear - Distal ... becomes more severe Signs ... Complications #pathophysiology ... #symptoms #signs
Xeropthalmia: Pathogenesis and Ocular Manifestations Decr Visual pigment -> Keratinization, thickening & non-wetting of the conjunctiva
Manifestations Decr Visual ... #Xeropthalmia #pathophysiology ... #ophthalmology ... #diagnosis #signs
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Optic Neuritis - Diagnosis and Management • Epidemiology: Female (75%), 18-50 years, caucasian • Symptoms: Moderate visual
Symptoms: Moderate visual ... orbital pain, (Sub)acute ... Unilateral • Signs ... < 4 weeks, No visual ... #rheumatology #ophthalmology
Anterior ischemic optic neuropathy (AION) - Recognition of giant cell arteritis (GCA) 1) Is visual loss caused
(GCA) 1) Is visual ... Definition: acute ... 50 years • Visual ... Doppler US : halo sign ... #Rheumatology #Ophthalmology
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