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

A table of lab values compiled from UpToDate and
metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Table #NICU #Genetics
Acute Pancreatitis - Pathophysiology

#Pancreatitis #Pathophysiology #diagnosis #symptoms #signs #algorithm
Pancreatitis - Pathophysiology ... #Pancreatitis #Pathophysiology ... diagnosis #symptoms #signs ... #algorithm
Maculopapular - Diagnostic Algorithm
Pathophysiology:
- Catch-all term with a wide range of potential pathophysiologic mechanisms and causative
Maculopapular - Diagnostic Algorithm ... Pathophysiology ... - Pathophysiology ... Ill-appearing, vital sign ... Color #Targetoid #Algorithm
Giant Cell (Temporal) Arteritis: Pathogenesis and investigations
Risk Factors:
 - Unclear environmental triggers (may be viral, not
not proven) - Genetic ... yrs old; F>M Signs ... Temporal #Arteritis #Pathophysiology ... #Diagnosis #Signs
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... PraderWilli #Syndrome #genetics ... #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
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 ... Agammaglobulinemia #XLinked #pathophysiology
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Clinical Findings Genetics ... > Keratoconus Signs ... Ring • Munson's sign ... • Rizutti's Sign ... #Keratoconus #pathophysiology
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings

 - Infectious Agents - 50% have
predisposition - Various genetic ... HenochScholeinPurpura #Pathophysiology ... #Diagnosis #Signs