15 results
Kawasaki Disease (Mucocutaneous Lymph Node Syndrome) 
An rare systemic acute febrile vasculitic syndrome. Aetiology unknown. 
Affects
Kawasaki Disease ... acute febrile vasculitic ... #Features #Signs ... #Symptoms #Diagnosis ... #Peds #Pediatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... 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 ... mutations - Down syndrome ... chromosome 21) Signs ... AlzheimersDisease #Dementia #pathophysiology ... #signs #symptoms
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
Vasculitis and Vasculitides - Differential Diagnosis Framework

When to Consider Vasculitis:
 • Purpura, ischemic skin lesions
 •
tract, and often causes ... : • Behçet Syndrome ... • Cogan Syndrome ... Presentation - Systemic Symptoms ... purpura: strong sign
Growth Hormone Excess - Pathogenesis and clinical findings
 • Acromegaly and gigantism share the same pathophysiology
• Other rare causes ... Carpal Tunnel Syndrome ... Cardiovascular disease ... Overproduction #diagnosis #signs ... #symptoms #endocrinology
Vasculitis - Differential Diagnosis Framework

When to Consider Vasculitis:
• Purpura, ischemic skin lesions
• Mononeuritis multiplex
• Hematuria, proteinuria,
Presentation: Systemic Symptoms ... purpura: Strong sign ... • Progressive symptoms ... tract, and often causes ... • Cogan syndrome
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Rheumatoid arthritis (RA): Extra-articular manifestations
Skin: 
 • Inflammation of skin (esp. over areas of stress) forms
blood vessels (vasculitis ... inflammation tends to cause ... interstitial lung disease ... /pulmonary fibrosis ... #signs #symptoms
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 ... are not caused ... Pulmonary: dyspnea ... #Signs #Symptoms