26 results
Gaucher Disease 

Pathophsiology
 • Lysosomal storage disorder
 • Deficiency of ß-glucocerebrosidase
• Accumulation of glucosylceramide in macrophages
Diagnosis
Gaucher Disease ... Pathophsiology ... storage disorder • Deficiency ... #Gauchers #Disease ... Diagnosis #Signs #Symptoms
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
epidemiology of this disease ... history of the disease ... antibodies) -> Complete deficiency ... immunity Signs/Symptoms ... Agammaglobulinemia #XLinked #pathophysiology
Meralgia paresthetica: Pathogenesis and Clinical Findings
Compression/injury of Lateral Femoral Cutaneous Nerve (LFCN) -> Meralgia paresthetica
 •
paresthetica • Symptoms ... 3-6 months of symptom ... intervertebral disc disease ... MeralgiaParesthetica #MSK ... #pathophysiology
Magnesium Deficiency and Alcoholism

Risks associated with Mg deficiency in alcoholism:
 • Affects protein synthesis. energy production,
Magnesium Deficiency ... atherosclerotic CVS disease ... • Depressive symptoms ... • Mg deficiency ... Alcoholism #alcohol #pathophysiology
Causes of Neuromuscular Weakness
 • Spinal Cord: Demyelinating Disease (MS), Epidural abscess, Infarction, Syringomyelia, Tetanus, Transverse
Demyelinating Disease ... (MS), Epidural ... : Acid maltase deficiency ... dermatomyositis, Thyroid disease ... differential #diagnosis #neurology
Central Retinal Artery Occlusion: Pathogenesis and clinical findings
 • Inflammatory Disease: (i.e. GCA, SLE, GPA) ->
• Inflammatory Disease ... , ATIII deficiency ... • Hematologic Disease ... Occlusion #CRAO #pathophysiology ... diagnosis #signs #symptoms
Features of a Sickle Cell Crisis 
Sickle-cell disease - an autosomal recessive blood disorder.
Characterized by red
Sickle-cell disease ... Sickle cell disease ... The underlying pathophysiology ... co-existent G6PD deficiency ... Features #Signs #Symptoms
Refeeding Syndrome Overview

What Is It?
	• Electrolyte/fluid shifts caused by initiation of nutrition in severely malnourished patient.
due to chronic disease ... Hypo-Mg2+ • Vitamin deficiency ... overload) Other Symptoms ... • Vitamin D deficiency ... Differential #Diagnosis #Pathophysiology
Low Alkaline Phosphatase - Hypophosphatasia 

Is Low Alkaline Phosphatase Of Clinical Importance?

ALP enzyme- Discovered in 1923
Low
Malnutrition • Wilson's disease ... • Vitamin C deficiency ... collection with EDTA Pathophysiology ... mineralization Symptoms ... respiratory failure • Neurologic
Multiple Sclerosis - Summary

Multiple Sclerosis (MS) is an autoimmune-mediated neurodegenerative disease of the central nervous system
neurodegenerative disease ... defect SIGNS/SYMPTOMS ... Signs and symptoms ... objective evidence of neurologic ... diagnosis #management #neurology