17 results
Characteristic clinical manifestations of Down syndrome 
 
Typical craniofacial appearance 
 • Round face and flat
• Brushfield spots ... iris (pigmented spots ... #Downs #Syndrome ... #PhysicalExam # ... Features #Signs
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... fractures • Short ... #genetics #pathophysiology
Pisa Syndrome (pleurothotonus) on Physical Exam
A tonic flexion of the trunk of the body to one
Pisa Syndrome (pleurothotonus ... by: - drugs (e.g ... Pathophysiology: ... FatimahDandan #Pisa #Syndrome ... pleurothotonus #PhysicalExam
Leukostasis vs Tumor Lysis Syndrome
Leukostasis:
 • Pathophysiology: Large, immature blasts and high WBC count cause hyperviscosity
vs Tumor Lysis Syndrome ... Leukostasis: • Pathophysiology ... WBC >100k, + lab signs ... : • Pathophysiology ... unless worrisome EKG
Feedback Loop: Growth Hormone (GH)
Growth Hormone:
 • Liver -> GHR activates JAK-STAT pathway -> Incr IGF1
activates lipolysis Signs ... deficiency: - Short ... tissue expansion (e.g ... endocrinology #pathophysiology
Refeeding Syndrome: Pathogenesis and clinical findings

Patients at Risk of Refeeding Syndrome:
 - Little or no nutritional
Refeeding Syndrome ... Risk of Refeeding Syndrome ... Low BMI < 18.5 kg ... #diagnosis #pathophysiology ... #symptoms #signs
Multiple Sclerosis - Summary

Multiple Sclerosis (MS) is an autoimmune-mediated neurodegenerative disease of the central nervous system
• Or brainstem syndromes ... • Lhermitte’s sign ... Signs and symptoms ... VEP’s: EEG of visual ... taper 3-7 days - Short
Guillain-Barre Syndrome - Summary

Acute AIDP that presents with rapidly progressive flaccid weakness

Epidemiology:
 • 1-2 cases/100,000 per
Guillain-Barre Syndrome ... Guillain-Barre Pathophysiology ... • Weakness: Starts ... Miller Fisher Syndrome ... Electrodiagnostic studies - EMG
Causes of ST Segment Elevation - Differential Diagnosis Framework

STEMI:
 • Upsloping convex STE: "Pardee's sign" +
STE: "Pardee's sign ... interval J Wave Syndromes ... involved • Brugada Syndrome ... (Eiffel Tower sign ... #ekg #electrocardiogram
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
survival is 93-95% Pathophysiology ... of diagnosis (e.g ... Specific sarcoidosis syndromes ... • Heerfordt syndrome ... Diagnosis #Management #Signs