41 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
excluding complex storage ... the lab values table ... MetabolicEmergency #Genetics ... #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
Diabetes Insipidus vs Syndrome of Inappropriate ADH (SIADH) - Comparison Table

Diabetes Insipidus - Inadequate ADH
SIADH -
) - Comparison Table ... SIADH #Comparison #Table ... #Pathophysiology ... #Signs #Symptoms
Ashkenazi Jewish Genetic Screening Algorithm
 • Bloom syndrome
 • Canavan disease
 • Familial dysautonomia
 • Fanconi
Ashkenazi Jewish Genetic ... Screening Algorithm ... hyperinsulinism • Glycogen storage ... Ashkenazi #Jewish #Genetic ... #Screening #Algorithm
Gaucher Disease 

Pathophsiology
 • Lysosomal storage disorder
 • Deficiency of ß-glucocerebrosidase
• Accumulation of glucosylceramide in macrophages
Diagnosis
Gaucher Disease Pathophsiology ... • Lysosomal storage ... Diagnosis #Signs #Symptoms
Acute Pancreatitis - Pathophysiology

#Pancreatitis #Pathophysiology #diagnosis #symptoms #signs #algorithm
Pancreatitis - Pathophysiology ... #Pancreatitis #Pathophysiology ... #diagnosis #symptoms ... #signs #algorithm
Giant Cell (Temporal) Arteritis: Pathogenesis and investigations
Risk Factors:
 - Unclear environmental triggers (may be viral, not
not proven) - Genetic ... old; F>M Signs/Symptoms ... Temporal #Arteritis #Pathophysiology ... Diagnosis #Signs #Symptoms
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... PraderWilli #Syndrome #genetics ... #pathophysiology
Functional Dyspepsia - Pathophysiology, Diagnosis and Management
Risk factors: Non-steroidal anti-inflammatory drugs, Psychological comorbidity, Helicobacter pylori infection,
Functional Dyspepsia - Pathophysiology ... sex, Smoking Symptoms ... : Bothersome symptoms ... Functional #Dyspepsia #Pathophysiology ... Diagnosis #Management #algorithm
Types of Chronic Urinary Incontinence

Type, Prevalence, Pathophysiology and Symptoms:
 - Stress
 - Urge
 - Mixed
 -
Type, Prevalence, Pathophysiology ... and Symptoms: ... Types #Comparison #Table