30 results
Gaucher Disease 

Pathophsiology
 • Lysosomal storage disorder
 • Deficiency of ß-glucocerebrosidase
• Accumulation of glucosylceramide in macrophages
Diagnosis
Gaucher Disease ... Pathophsiology ... storage disorder • Deficiency ... in GBA1 gene Clinical ... #Diagnosis #Signs
Tree in Bud Sign
The Tree-in-Bud sign represents Endobronchial spread in a linear branching pattern and centrilobular
Tree in Bud Sign ... The Tree-in-Bud sign ... #diagnosis #clinical ... #radiology #ChestCT ... #pathophysiology
Plain radiography of the abdomen revealed calcification of both adrenal glands. A homozygous mutation in LIPA
confirmed the diagnosis ... , or Wolman’s disease ... and gut, which causes ... #clincial #peds ... NEJM #Wolmans #radiology
Widened Pulse Pressure - Differential Diagnosis and Pathophysiology

Pulse pressure is the difference between the systolic blood
and Pathophysiology ... • Severe iron deficiency ... coronary heart disease ... #Pathophysiology ... #causes #cardiology
Krabbe Disease 

Check out this interesting case of Krabbe disease, a rare genetic leukodystrophy. Diagnosis was
this interesting case ... Diagnosis was made ... leukodystrophy w/ deficiency ... #Diagnosis #MRI ... #Clinical #Radiology
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Alzheimer’s Disease ... Pathogenesis and Clinical ... chromosome 21) Signs ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis
Refeeding Syndrome Overview

What Is It?
	• Electrolyte/fluid shifts caused by initiation of nutrition in severely malnourished patient.
severe clinical ... due to chronic disease ... • Vitamin D deficiency ... #Differential #Diagnosis ... #Pathophysiology
Central Retinal Artery Occlusion: Pathogenesis and clinical findings
 • Inflammatory Disease: (i.e. GCA, SLE, GPA) ->
Pathogenesis and clinical ... retinal edema caused ... Occlusion #CRAO #pathophysiology ... ophthalmology #diagnosis ... #signs #symptoms
Growth Hormone Excess - Pathogenesis and clinical findings
 • Acromegaly and gigantism share the same pathophysiology
Pathogenesis and clinical ... • Other rare causes ... Cardiovascular disease ... Overproduction #diagnosis ... #signs #symptoms
Hemophagocytic Lymphohistiocytosis (HLH)
Pathophysiology: Triggering factor (infection,...)→Activation of CD8 T cells (IFN-y) → Excessive activation of macrophages
Lymphohistiocytosis (HLH) Pathophysiology ... accumulation of clinical ... Assessment • Clinical ... • Autoimmune diseases ... Cellular immune deficiency