639 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 #Symptoms
Hypothyroid Myopathy
Very common (up to 80% ) in patients with hypothyroidism
Pathophysiology:
 • T4 deficiency leads to
hypothyroidism Pathophysiology ... : • T4 deficiency ... fibers Spectrum of Clinical ... Hypothyroid #Myopathy #pathophysiology ... #signs #symptoms
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
21-Hydroxylase Deficiency ... Pathogenesis and Clinical ... amount of enzyme deficiency ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings

 - Infectious Agents - 50% have
Pathogenesis and Clinical ... Circulating galactose-deficient ... Deficiency in galactosylation ... HenochScholeinPurpura #Pathophysiology ... Diagnosis #Signs #Symptoms
Rickets and Osteomalacia: Pathogenesis and Clinical Findings
 • Calcification inhibitors (excess exposure to A1, Fluoride, etidronate)
Pathogenesis and Clinical ... D or Phosphate deficiency ... D Metabolism: Deficiency ... #Osteomalacia #pathophysiology ... diagnosis #signs #symptoms
Refeeding Syndrome Overview

What Is It?
	• Electrolyte/fluid shifts caused by initiation of nutrition in severely malnourished patient.
may cause severe clinical ... Hypo-Mg2+ • Vitamin deficiency ... overload) Other Symptoms ... • Vitamin D deficiency ... Differential #Diagnosis #Pathophysiology
Scurvy (Vitamin C Deficiency) - Diagnosis and Management

Vitamin C is required for hydroxylation of proline residues
Scurvy (Vitamin C Deficiency ... poor nutrition Clinical ... musculoskeletal symptoms ... Psychiatric symptoms ... : • Vitamin C deficiency
Central Retinal Artery Occlusion: Pathogenesis and clinical findings
 • Inflammatory Disease: (i.e. GCA, SLE, GPA) ->
Pathogenesis and clinical ... Protein C & S deficiency ... , ATIII deficiency ... Occlusion #CRAO #pathophysiology ... diagnosis #signs #symptoms
Low Alkaline Phosphatase - Hypophosphatasia 

Is Low Alkaline Phosphatase Of Clinical Importance?

ALP enzyme- Discovered in 1923
Low
Phosphatase Of Clinical ... • Vitamin C deficiency ... Pernicious anemia/B12 deficiency ... collection with EDTA Pathophysiology ... mineralization Symptoms
Mixed Urinary Incontinence: Pathogenesis and Clinical Findings

Urgency Urinary Incontinence (UUI) -> Urinary leakage preceded by a
Pathogenesis and Clinical ... intrinsic sphincter deficiency ... Incontinence #Mixed #Pathophysiology ... #Signs #Symptoms