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diagnosis pediatrics management table hematology iem metabolism neonatology neurology nicu apml causes comparison developmentaldelay differentiation encephalopathy fever headache hemeonc hemophagocytic
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
MetabolicEmergency #Genetics ... #Diagnosis #Algorithm ... #Differential # ... Neonatology #Peds ... Table #IEM #NICU #InbornErrors
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #InbornErrors ... #Neonatology #Peds ... #Table #NICU #Genetics
Causes of Developmental Delay - Differential Diagnosis Algorithm Isolated Domain Delay - Reduced Respiratory Drive: • Cognitive
Developmental Delay - Differential ... Diagnosis Algorithm ... • Genetic Disorder ... #Diagnosis #Algorithm ... #Causes #Peds #
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
Approach to Headaches - Differential Diagnosis Algorithm Red flags (PHANTOMS): • Pattern change, progressively worse, papilledema •
to Headaches - Differential ... Diagnosis Algorithm ... papilledema • Horner syndrome ... artery tenderness, triggered ... ) • Systemic symptoms
Differentiation Syndrome in APML Epidemiology: • Incidence: common in APL (2-48% depending on the study) • Triggers:
Differentiation Syndrome ... the study) • Triggers ... ATRA treatment Pathophysiology ... Diagnosis: >3 symptoms ... initiation • Differential
Posterior Reversible Encephalopathy Syndrome (PRES) Overview Clinico-Radiological Syndrome, characterized by: • Headache • Seizures • Altered mental
Encephalopathy Syndrome ... Etiology: • Pathophysiology ... Neurological symptoms ... Reversible course Differential ... Seizures: Treat with AEDs
Hemophagocytic Lymphohistiocytosis (HLH) High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
hyperinflammatory syndrome ... patients with the HLH syndrome ... Familial) HLH: - Genetic ... Common Signs and Symptoms ... Pathophysiology
Hyperthermic Toxidromes Five toxidromes may present with overlapping features: hyperthermia, rhabdomyolysis, altered mental status/seizures. • Sympathomimetic -
• Serotonin Syndrome ... serotoninergic meds ... disease caused by genetic ... ryanodine receptor) & triggered ... table #diagnosis #differential
PFAPA Syndrome - Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis EPIDEMIOLOGY: PFAPA is the most common syndrome entailing
fever (FMF) PATHOPHYSIOLOGY ... reporting such symptoms ... DIFFERENTIAL DIAGNOSIS ... both diseases are triggered ... neutropenia (CyN) This genetic
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