13 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm ... #Differential # ... Neonatology #Peds
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
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 ... /Symptoms/Complications ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Hypochloremia - Differential Diagnosis Algorithm

Cause - Decreased Intake:
 • Low salt in diet
 • Exclusive D5W
Hypochloremia - Differential ... Diagnosis Algorithm ... Cause - Decreased ... - Gitelman SIGNS ... #Pathophysiology
Meralgia paresthetica: Pathogenesis and Clinical Findings
Compression/injury of Lateral Femoral Cutaneous Nerve (LFCN) -> Meralgia paresthetica
 •
Only: - Decreased ... MeralgiaParesthetica #MSK #pathophysiology ... #differential # ... diagnosis #signs ... #symptoms
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
Signs of immunodeficiency ... Genetic Predisposition ... humoral immunity Signs ... /Symptoms/Findings ... Agammaglobulinemia #XLinked #pathophysiology
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
Uncommon Causes of Noncardiogenic Pulmonary Edema (NCPE) - Differential Diagnosis Framework

High Altitude Pulmonary Edema:
 • Accumulation
Edema (NCPE) - Differential ... • Signs/Symptoms ... • Signs/Symptoms ... - The classic signs ... edema #causes #differential
Spinal Cord Disorders - Differential Diagnosis Framework

Spinal cord neurological lesion:
Clinical findings:
 • Symptoms and signs below
Cord Disorders - Differential ... and signs below ... Cauda equina- decreased ... diagnosis #neurology #differential ... #algorithm
Heat Illnesses and Heat Stroke - Differential Diagnosis Framework

Heat Cramps:
 • Muscle pain or spasm -
Heat Stroke - Differential ... Collapse: • Pathophysiology ... → Syncope • Signs ... /Symptoms: - Lightheadedness ... sweaty skin - Decreased