18 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Pathogenesis and clinical ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
Clinically Important Vitamins and Vitamin Deficiency States
Fat-soluble Vitamins: 
 • Vitamin A - Xerophthalmia, night blindness,
Clinically Important ... Wernicke-Korsakoff syndrome ... #differential # ... diagnosis #signs ... #symptoms #nutrition
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
21-Hydroxylase Deficiency ... Pathogenesis and Clinical ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... endocrinology #peds
Refeeding Syndrome Overview

What Is It?
	• Electrolyte/fluid shifts caused by initiation of nutrition in severely malnourished patient.
may cause severe clinical ... overload) Other Symptoms ... • Vitamin D deficiency ... #Nutrition #Differential ... #Diagnosis #Pathophysiology
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings

 - Infectious Agents - 50% have
Pathogenesis and Clinical ... nephrotic/nephritic syndrome ... HenochScholeinPurpura #Pathophysiology ... #Diagnosis #Signs ... #Symptoms
Fatigue and IBD Algorithm
 • 40-50% patients have fatigue despite clinical remission
 • Risk factors: BMI,
fatigue despite clinical ... Receptor (sTfR) to differentiate ... restricted diet/deficiency ... symptoms even if ... #diagnosis #management
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
Diagnosis and Management ... survival is 93-95% Pathophysiology ... renal failure Clinical ... Sarcoidosis #Diagnosis #Management ... #Signs #Symptoms
Behçet's Syndrome
Systemic disease associated with inflammation of multiple organs, small-vessel vasculitis and large-vessel vasculopathy
Epidemiology:
 • Young
association • M > F Clinical ... (Clinical Dx). ... Behcet disease) Differential ... #diagnosis #management ... #signs #symptoms
Spinal Cord Disorders - Differential Diagnosis Framework

Spinal cord neurological lesion:
Clinical findings:
 • Symptoms and signs below
Cord Disorders - Differential ... neurological lesion: Clinical ... and signs below ... MCTD, Sjogren syndrome ... #algorithm
Myasthenia Gravis Overview

Myasthenia Gravis is an autoimmune disorder of the postsynaptic neuromuscular junction.  Ab to
life-threatening Differential ... test - Cogan sign ... - Peek sign ... immunosuppressants - Meds ... Gravis #diagnosis #management