12 results
Gaucher Disease 

Pathophsiology
 • Lysosomal storage disorder
 • Deficiency of ß-glucocerebrosidase
• Accumulation of glucosylceramide in macrophages
Diagnosis
Pathophsiology ... Lysosomal storage disorder ... Osteonecrosis, bone ... #Diagnosis #Signs ... #Symptoms
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms ... Infertility • Decr Bone ... #genetics #pathophysiology ... #peds #pediatrics
Short Bowel Syndrome - Acute and Chronic Adverse Signs and Symptoms of Ileal Resection
 • Dehydration
Short Bowel Syndrome ... and Symptoms of ... Nephropathy • Bone ... #Signs #Symptoms ... Ileal #Resection #pathophysiology
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Ehlers-Danlos syndrome ... Turner, Marfan syndromes ... rubbing • Atopic diseases ... / Symptoms / Complications ... #Keratoconus #pathophysiology
Causes of Peripheral and Central Vertigo
PERIPHERAL VERTIGO
1. Benign paroxysmal positional vertigo (BPPV) - Short-lived (typically less
Vascular disorders ... (Wallenberg's syndrome ... the headache (in one ... Syndrome usually ... varying neurologic signs
Spinal Cord Disorders - Differential Diagnosis Framework

Spinal cord neurological lesion:
Clinical findings:
 • Symptoms and signs below
and signs below ... decreased muscle tone ... Sarcoidosis, Behcet disease ... MCTD, Sjogren syndrome ... differential #algorithm
Chronic Lymphocytic Leukemia - Summary

Cancer affecting lymphocytes/Mature B cell neoplasm
 • Lymphocytes accumulate in large numbers
with no early symptoms ... Physical Exam/Signs ... cells can indicate disease ... lymphoproliferative disorders ... • Richter’s Syndrome
Sweet Syndrome

Acute febrile neutrophilic dermatosis (Sweets Syndrome) is a skin condition characterized by fever and inflamed
with systemic disease ... Rare Disorder: ... Episcleritis Signs ... and Symptoms: ... skin lesions by one
Adhesive Capsulitis (Frozen Shoulder) - Pathogenesis and Clinical Findings

 • Primary (Idiopathic): Unknown etiology, but associated
with autoimmune disorders ... mellitus, thyroid disease ... FrozenShoulder #pathophysiology ... #diagnosis #symptoms ... #signs #stages
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
Shock, Autoimmune disease ... Etiology: • Pathophysiology ... Neurological symptoms ... mean 58 mg/dL in one ... Seizures: Treat with AEDs