23 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Signs/Symptoms ... sleep apnea, cor pulmonale ... #genetics #pathophysiology ... #peds #pediatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Alzheimer’s Disease ... Pathogenesis and Clinical ... mutations - Down syndrome ... chromosome 21) Signs ... #signs #symptoms
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Pathogenesis and Clinical ... Findings Genetics ... > Keratoconus Signs ... Ring • Munson's sign ... • Rizutti's Sign
Pott's Disease in Tuberculosis - Diagnosis and Management Summary
Epidemiology:
 - Typically from TB endemic areas
 -
Pott's Disease in ... extrapulmonary cases ... Clinical Signs ... years - May have signs ... decreased reflexes Pathophysiology
Fat Embolism Syndrome
Trauma to the long bone or pelvis accounts for —9096 of cases. The diagnosis
Pathophysiology ... onset widespread pulmonary ... FES is a clinical ... #Diagnosis #Signs ... #Symptoms
Leukostasis vs Tumor Lysis Syndrome
Leukostasis:
 • Pathophysiology: Large, immature blasts and high WBC count cause hyperviscosity
Leukostasis: • Pathophysiology ... high WBC count cause ... WBC >100k, + lab signs ... TLS #diagnosis #management ... #hematology
Growth Hormone Excess - Pathogenesis and clinical findings
 • Acromegaly and gigantism share the same pathophysiology
Pathogenesis and clinical ... • Other rare causes ... Carpal Tunnel Syndrome ... Cardiovascular disease ... Overproduction #diagnosis #signs
Bullous Pemphigoid - Diagnosis and Management Summary
Pathophysiology: Autoantibody-mediated damage to epithelial basement membrane -> separation of
Summary Pathophysiology ... epidermis from dermis Clinical ... Signs/Symptoms/ ... - Erosions and crusts ... #dermatology
Hemophagocytic Lymphohistiocytosis (HLH)
Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
: Overwhelming clinical ... syndrome associated ... age, however the disease ... Diagnosis: HLH signs ... and symptoms can
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
Diagnosis and Management ... survival is 93-95% Pathophysiology ... renal failure Clinical ... are not caused ... #Signs #Symptoms