22 results
Gaucher Disease 

Pathophsiology
 • Lysosomal storage disorder
 • Deficiency of ß-glucocerebrosidase
• Accumulation of glucosylceramide in macrophages
Diagnosis
Gaucher Disease Pathophsiology ... Lysosomal storage disorder ... in GBA1 gene Clinical ... Neurological involvement (type ... #Signs #Symptoms
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Signs/Symptoms ... fractures • Short ... • Obesity -> Type ... #genetics #pathophysiology
Causes of Hypokalemia - Differential Diagnosis Algorithm
Defining the cause of hypokalemia starts by measuring urinary K
- Differential Diagnosis ... Algorithm Defining ... of hypokalemia starts ... Clinicians should ... tubular acidosis (type
Causes of Peripheral and Central Vertigo
PERIPHERAL VERTIGO
1. Benign paroxysmal positional vertigo (BPPV) - Short-lived (typically less
Vascular disorders ... insufficiency (VBI) - Should ... most common type ... signs or symptoms ... #differential #diagnosis
Adhesive Capsulitis (Frozen Shoulder) - Pathogenesis and Clinical Findings

 • Primary (Idiopathic): Unknown etiology, but associated
Pathogenesis and Clinical ... with autoimmune disorders ... FrozenShoulder #pathophysiology ... #diagnosis #symptoms ... #signs #stages
Multiple Sclerosis - Summary

Multiple Sclerosis (MS) is an autoimmune-mediated neurodegenerative disease of the central nervous system
• Or brainstem syndromes ... impairment, Mood disorder ... Signs and symptoms ... stimulation Clinical ... #management #neurology
Acute Spinal Cord Injuries: Pathogenesis and clinical findings
 • Anterior Cord Syndrome -> Anterior spinal artery
Pathogenesis and clinical ... Anterior Cord Syndrome ... #diagnosis #pathophysiology ... #signs #symptoms ... #orthopedics #neurology
Neuromyelitis Optica (NMO) - Clinical Manifestations
 • Optic neuritis: Reduced visual acuity, ranging from mild to
Optica (NMO) - Clinical ... Comorbid autoimmune disorders ... Manifestations #diagnosis ... #neurology #symptoms ... #signs
Anterior ischemic optic neuropathy (AION) - Recognition of giant cell arteritis (GCA)

1) Is visual loss caused
acute ischemic disorder ... Clinical manifestations ... Doppler US : halo sign ... Ophthalmology #Diagnosis ... #Algorithm
Restrictive Cardiomyopathy - Diagnosis and Causes
Clinical: Dyspnea, Exercise Intolerance, ↑ "Right Sided-Symptoms" (ascites, hepatomegaly, ↑↑peripheral edema)
Physical
and Causes Clinical ... ↑ "Right Sided-Symptoms ... Hyper-eosinophilc Syndrome ... Sarcomeric Protein Disorders ... differential #cardiology #algorithm