11 results
pediatrics diagnosis table iem inbornerrors management neonatology nicu syndrome 21hydroxylasedeficiency 21ohd acute algorithm closed closedangle differential encephalopathy endocrinology keratoconus laboratory
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... inborn errors of metabolism ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Neonatology #Peds
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
Inborn Errors of Metabolism ... diagnosing acute metabolic ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics
Glaucoma - Emergency Department Management - All patients should get emergency ophthalmologic consultation - Start with eye drops
Glaucoma - Emergency ... get emergency ophthalmologic ... or refractory symptoms ... blocker) - Topical meds ... #Glaucoma #Open
Retinoblastoma: Pathogenesis and clinical findings • Sporadic mutation -> One allele of RB1 tumor suppressor gene
Retinoblastoma Signs / Symptoms ... • Secondary glaucoma ... Retinoblastoma #pathophysiology ... #ophthalmology ... diagnosis #signs #symptoms
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Acute Closed Angle Glaucoma: Pathogenesis and Clinical Findings OPHTHALMIC EMERGENCY: Early detection is essential, but most patients
Acute Closed Angle Glaucoma ... lights are a key symptom ... blindness Signs / Symptoms ... #pathophysiology ... #ophthalmology
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
Keratoconus: Pathogenesis and Clinical Findings Genetics • Family history of keratoconus • Ehlers-Danlos syndrome • Down, Turner,
Clinical Findings Genetics ... Keratoconus Signs / Symptoms ... #Keratoconus #pathophysiology ... #ophthalmology
Posterior Reversible Encephalopathy Syndrome (PRES) Overview Clinico-Radiological Syndrome, characterized by: • Headache • Seizures • Altered mental
Etiology: • Pathophysiology ... Neurological symptoms ... Drug toxicity, Metabolic ... Seizures: Treat with AEDs
Retinopathy of Prematurity: Pathogenesis and clinical findings Increased metabolic demand of growing eye -> Excessive VEGF production ->
findings Increased metabolic ... #Prematurity #peds ... #pediatrics #pathophysiology ... #ophthalmology
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