The Calgary Guide to Understanding Disease @TheCalgaryGuide
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Account created for The Calgary Guide to Understanding Disease - Linking pathophysiology to clinical presentation - http://calgaryguide.ucalgary.ca/
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Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... PraderWilli #Syndrome #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 ... / Symptoms / Complications ... #Anaphylaxis #pathophysiology ... #immunology #diagnosis ... #signs #symptoms
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
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
chromosome 21) Signs ... / Symptoms / Complications ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Clinical Findings Genetics ... > Keratoconus Signs ... / Symptoms / Complications ... • Rizutti's Sign ... #Keratoconus #pathophysiology
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
Signs of immunodeficiency ... Genetic Predisposition ... humoral immunity Signs ... Agammaglobulinemia #XLinked #pathophysiology ... #immunology
Acute Otitis Media: Pathogenesis and Clinical Findings (in Children)
Upper Respiratory Tract Infection: 
 - Bacterial: Streptococcus
resolve by 72 hours Complications ... #OtitisMedia #pathophysiology ... diagnosis #symptoms #signs ... #peds #pediatrics
Pituitary Mass Effects - Pathogenesis and Clinical Findings
 • Pituitary turnors are almost always a benign
Signs / Symptoms ... / Complications ... #SideEffects #endocrinology ... mnemonic #GLFTAP #pathophysiology
Diabetic Ketoacidosis (DKA) - Pathogenesis and Clinical Findings
 • Note: in DKA, body K+ is lost
Signs/Symptoms/Complications ... DiabeticKetoacidosis #DKA #pathophysiology ... #endocrinology
Bulimia Nervosa: Signs and Symptoms
Associated Psychological / Behavioural Features
 • Feelings of shame, guilt and embarrassment
Bulimia Nervosa: Signs ... Symptoms related to complications ... BulimiaNervosa #pathophysiology ... #diagnosis #signs ... #symptoms #psychiatry