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diagnosis management inbornerrors neonatology nicu pediatrics rhabdomyolysis treatment acromegaly algorithm ammonia comparison encephalopathy endocrinology fever hematology hemeonc hemophagocytic hlh hyperammonemia
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
A table of lab ... See IEM schema for ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #NICU #Genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
the lab values table ... MetabolicEmergency #Genetics ... Diagnosis #Algorithm #Differential ... #Neonatology #Peds ... #IEM #NICU #InbornErrors
Schematic representation of the major sources of ammonia production and its excretory pathway (GI = gastrointestinal,
and decreased metabolism ... rare): - Reye syndrome ... (Peds) - Primary ... deficiency #Ammonia #Pathophysiology ... Hyperammonemia #Differential
Rhabdomyolysis - Differential Diagnosis and Management Summary Trauma: • Immobilization, Crush iniury, Compartment syndrome, Electrical injury Exertional: •
Rhabdomyolysis - Differential ... , Heat stroke, Metabolic ... Dermatomyositis) AKI - Pathophysiology ... per day until stable ... Management #Summary #causes
Rhabdomyolysis - Differential Diagnosis Framework Rhabdomyolysis = Destruction of skeletal muscle with leakage of contents into circulation.
Compression • Genetic ... Neuroleptic malignant syndrome ... • Metabolic and ... #Diagnosis #Causes ... #nephrology #table
Posterior Reversible Encephalopathy Syndrome (PRES) Overview Clinico-Radiological Syndrome, characterized by: • Headache • Seizures • Altered mental
Etiology: • Pathophysiology ... Reversible course Differential ... Drug toxicity, Metabolic ... the underlying cause ... until cause identified
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook Clinical Presentation: • Classic Acromegaly: frontal
Hypogonad (50%) • Metabolic ... Differential Diagnosis ... phenytoin, minoxidil), genetic ... Beckwith Wiedemann syndrome ... or refractory cases
Hemophagocytic Lymphohistiocytosis (HLH) High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
hyperinflammatory syndrome ... caused by uncontrolled ... Familial) HLH: - Genetic ... Pathophysiology ... Diagnosis #Management #Hematology
Hyperthermic Toxidromes Five toxidromes may present with overlapping features: hyperthermia, rhabdomyolysis, altered mental status/seizures. • Sympathomimetic -
• Serotonin Syndrome ... pharmacogenetic disease caused ... by genetic susceptibility ... Toxidromes #comparison #table ... #diagnosis #differential
PFAPA Syndrome - Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis EPIDEMIOLOGY: PFAPA is the most common syndrome entailing
fever (FMF) PATHOPHYSIOLOGY ... DIFFERENTIAL DIAGNOSIS ... both diseases are triggered ... neutropenia (CyN) This genetic ... It causes the absolute
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