The Calgary Guide to Understanding Disease @TheCalgaryGuide
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Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
Anaphylaxis: Signs and Symptoms
Anaphylaxis: when any egg of three conditions is met:
1. Acute onset of skin/mucosal
Anaphylaxis: Signs ... Acute onset of skin ... symptoms in the acute ... #Anaphylaxis #pathophysiology ... #immunology #diagnosis
Systemic Lupus Erythematosus: Gastrointestinal Manifestations
 - Thrombosis of vessels in the pancreas, Vasculitis -> Acute Pancreatitis
Vasculitis -> Acute ... - Budd Chiari Syndrome ... Complications #pathophysiology ... #signs #symptoms ... #diagnosis
Acute Spinal Cord Injuries: Pathogenesis and clinical findings
 • Anterior Cord Syndrome -> Anterior spinal artery
Acute Spinal Cord ... Anterior Cord Syndrome ... weakness and #Acute ... #diagnosis #pathophysiology ... #signs #symptoms
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
mutations - Down syndrome ... chromosome 21) Signs ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Growth Hormone Excess - Pathogenesis and clinical findings
 • Acromegaly and gigantism share the same pathophysiology
Carpal Tunnel Syndrome ... Overproduction #diagnosis ... #signs #symptoms ... #endocrinology ... #pathophysiology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
40% of patients diagnosed ... Signs of immunodeficiency ... Genetic Predisposition ... Agammaglobulinemia #XLinked #pathophysiology ... #immunology
Acute Otitis Media: Pathogenesis and Clinical Findings (in Children)
Upper Respiratory Tract Infection: 
 - Bacterial: Streptococcus
Acute Otitis Media ... #OtitisMedia #pathophysiology ... #diagnosis #symptoms ... #signs #peds #pediatrics
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings

 - Infectious Agents - 50% have
predisposition - Various genetic ... nephrotic/nephritic syndrome ... HenochScholeinPurpura #Pathophysiology ... #Diagnosis #Signs