41 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
Rheumatoid Arthritis Summary
MCP and PIP Involvement, Spares DIP, Carpal Tunnel, Sicca Syndrome, Epi/Scleritis, Heart Disease, Rheumatoid
PIP Involvement, Spares ... Scleritis, Heart Disease ... Nodules, Pulmonary Disease ... and ILD Complications ... rheumatology #signs #symptoms
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
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Alzheimer’s Disease ... chromosome 21) Signs / Symptoms ... / Complications ... AlzheimersDisease #Dementia #pathophysiology ... diagnosis #signs #symptoms
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... /Complications: ... fractures • Short ... Syndrome #genetics #pathophysiology
Refeeding Syndrome Overview

What Is It?
	• Electrolyte/fluid shifts caused by initiation of nutrition in severely malnourished patient.
severe clinical complications ... due to chronic disease ... overload) Other Symptoms ... • Vitamin D deficiency ... Differential #Diagnosis #Pathophysiology
Risk Factors and Signs of Copper Deficiency
Risk Factors:
 • Gastrointestinal: Previous upper bowel resection/bariatric surgery, Inflammatory
Signs of Copper Deficiency ... Inflammatory bowel disease ... Chronic diarrhoea, Short ... drkeithsiau #Copper #Deficiency ... #riskfactors #symptoms
Feedback Loop: Growth Hormone (GH)
Growth Hormone:
 • Liver -> GHR activates JAK-STAT pathway -> Incr IGF1
lipolysis Signs/Symptoms ... : • GH deficiency ... : - Short ... endocrinology #pathophysiology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
21-Hydroxylase Deficiency ... amount of enzyme deficiency ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology
Xeropthalmia: Pathogenesis and Ocular Manifestations

Decr Visual pigment -> Keratinization, thickening & non-wetting of the conjunctiva
with vitamin A deficiency ... conjunctiva) • Bitot's spots ... #Xeropthalmia #pathophysiology ... diagnosis #signs #symptoms