41 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Prader-Willi Syndrome Signs ... /Symptoms/Complications ... • Obesity -> Type ... Syndrome #genetics #pathophysiology
Gaucher Disease 

Pathophsiology
 • Lysosomal storage disorder
 • Deficiency of ß-glucocerebrosidase
• Accumulation of glucosylceramide in macrophages
Diagnosis
Gaucher Disease Pathophsiology ... in GBA1 gene Clinical ... Neurological involvement (type ... Disease #Diagnosis #Signs ... #Symptoms
Pott's Disease in Tuberculosis - Diagnosis and Management Summary
Epidemiology:
 - Typically from TB endemic areas
 -
extrapulmonary cases Clinical ... Signs/Symptoms: ... years - May have signs ... decreased reflexes Pathophysiology ... Residency @CMC_IM #Potts
Meralgia paresthetica: Pathogenesis and Clinical Findings
Compression/injury of Lateral Femoral Cutaneous Nerve (LFCN) -> Meralgia paresthetica
 •
Pathogenesis and Clinical ... MeralgiaParesthetica #MSK #pathophysiology ... #differential # ... diagnosis #signs ... #symptoms
Hypothyroid Myopathy
Very common (up to 80% ) in patients with hypothyroidism
Pathophysiology:
 • T4 deficiency leads to
hypothyroidism Pathophysiology ... fast-twitching Type ... slow-twitching Type ... fibers Spectrum of Clinical ... #signs #symptoms
Lower Urinary Tract Infection: Pathogenesis and Clinical Findings

- Predisposing Factors:  Immunocompromised state, diabetes, elderly, female
Pathogenesis and Clinical ... elderly, female (short ... Signs/Symptoms ... UrinaryTractInfection #LUTI #Pathophysiology ... #Signs #Symptoms
Multiple Sclerosis - Summary

Multiple Sclerosis (MS) is an autoimmune-mediated neurodegenerative disease of the central nervous system
Signs and symptoms ... patients with clinically ... stimulation Clinical ... taper 3-7 days - Short ... sclerosis #diagnosis #management
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Pathogenesis and Clinical ... Changes in collagen types ... / Symptoms / Complications ... • Rizutti's Sign ... #Keratoconus #pathophysiology
Bullous Pemphigoid - Diagnosis and Management Summary
Pathophysiology: Autoantibody-mediated damage to epithelial basement membrane -> separation of
Diagnosis and Management ... Summary Pathophysiology ... epidermis from dermis Clinical ... Signs/Symptoms/ ... erosions in ~20% Management
Psoriatic Arthritis: Pathogenesis and Clinical findings

In tendons and connective tissues:
 • Enthesitis  - Pain/tenderness over
Pathogenesis and Clinical ... , ridging, oil spots ... PsoriaticArthritis #pathophysiology ... #diagnosis #signs ... #symptoms