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

A table of lab values compiled from UpToDate and
Metabolism A table ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... Peds #Pediatrics #Table ... #NICU #Genetics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology
Hypochloremia - Differential Diagnosis Algorithm

Cause - Decreased Intake:
 • Low salt in diet
 • Exclusive D5W
Differential Diagnosis Algorithm ... Cause - Decreased ... - Gitelman SIGNS ... Differential #Diagnosis #Algorithm ... #Pathophysiology
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 ... to produce all classes ... humoral immunity Signs ... Agammaglobulinemia #XLinked #pathophysiology
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings

 - Infectious Agents - 50% have
predisposition - Various genetic ... periumbilical region), nausea ... HenochScholeinPurpura #Pathophysiology ... #Diagnosis #Signs
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
countries (11-24 cases ... survival is 93-95% Pathophysiology ... symptoms are not caused ... Self-limiting, chronic but stable ... Diagnosis #Management #Signs
It is important to recognize Acute Decompensated Heart Failure (ADHF) as more than just simply a
Signs of poor perfusion ... Signs of congestion ... the determined cause ... #differential #algorithm ... cardiology #treatment #table
Panic Disorder: Pathogenesis and clinical findings
Social Factors
 • Parenting and infant attachment
 • Childhood illness/abuse
 •
Neurotic personality Genetics ... sweating, trembling, nausea ... BehavioralDisorder #Pathophysiology ... diagnosis #symptoms #signs
Hemophagocytic Lymphohistiocytosis (HLH)

High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
hyperinflammatory syndrome caused ... Familial) HLH: - Genetic ... Presentation • Common Signs ... Pathophysiology