9 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... delayed puberty -> Infertility ... #genetics #pathophysiology ... #peds #pediatrics
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... Tetralogy #Fallot #diagnosis ... management #cardiology #peds
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
CPPD vs Gout

== CPPD == 

Think About CPPD When:
 • Self-limited synovitis after surgery/trauma (> 65
disease states Pathophysiology ... precipitates with calcium ... culture used to diagnose ... • Metabolic syndrome ... #rheumatology #Diagnosis
Pseudogout Summary - Calcium Pyrophosphate Deposition Disease (CPPD)

Pathophysiology:
Pyrophosphate produced by chondrocytes likely precipitates with calcium to
Pseudogout Summary - Calcium ... ) Pathophysiology ... culture used to diagnose ... Crowned Dens Syndrome ... #Rheumatology #diagnosis
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
malignancy Pathophysiology ... phenytoin, minoxidil), genetic ... Beckwith Wiedemann syndrome ... #Management #Endocrinology ... #Treatment #Pathophysiology
Causes of Hypocalcemia by Clinical Cause

Acute illness: pancreatitis, tumor lysis, severe illness - Secondary hyperparathyroidism from
low circulating calcium ... hypocalcemia - Genetic ... Malabsorption syndrome ... #Differential #Diagnosis ... #Endocrinology
Causes of Hypocalcemia - Differential Diagnosis
Decreased calcium absorption
 • Vitamin D deficiency
    -
- Differential Diagnosis ... Decreased calcium ... Malabsorption Syndromes ... Hypoparathyroidism - Genetic ... #Causes #endocrinology
Bulimia Nervosa: Complications
GASTROINTESTINAL
 • Dehydration & inability to digest food -> Constipation
 • Recurrent vomiting exposes
• Boerhaave syndrome ... > Amenorrhea & Infertility ... Calcium, VitD) and ... Complications #pathophysiology ... #diagnosis #signs