15 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... See the lab values ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
A table of lab values ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #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
Trendelenburg Gait: Pathogenesis and clinical findings

Skeletal Pathology of the Hip
 • Arthritis
 • Congenital hip dysplasia
vara • Coxa valga ... Chondrodysplasia Neurologic ... Joint Pain • Valgus ... Trendelenburg #Gait #pathophysiology ... causes #symptoms #signs
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Clinical Findings Genetics ... > Keratoconus Signs ... / Symptoms / Complications ... • Rizutti's Sign ... #Keratoconus #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
Hypochloremia - Differential Diagnosis Algorithm

Cause - Decreased Intake:
 • Low salt in diet
 • Exclusive D5W
Differential Diagnosis Algorithm ... - Gitelman SIGNS ... Differential #Diagnosis #Algorithm ... #Pathophysiology ... #Nephrology #Chloride
Mixed Urinary Incontinence: Pathogenesis and Clinical Findings

Urgency Urinary Incontinence (UUI) -> Urinary leakage preceded by a
Incr PVR if a complication ... Incontinence #Mixed #Pathophysiology ... #Signs #Symptoms ... #Urology #Diagnosis
Giant cell arteritis (GCA)

Giant cell arteritis (GCA) definition: Most common systemic inflammatory vasculitis in older adults
with systemic, neurologic ... and ophthalmic complications ... systemic sx + signs ... or sed rate): Value ... GCA, but normal values
Psoriatic Arthritis: Complications

 • Ocular - Inflammation of middle layer of the eye (the uvea, which
Psoriatic Arthritis: Complications ... inflammation of heart valves ... PsoriaticArthritis #pathophysiology ... #diagnosis #signs ... #symptoms #Complications