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 Signs ... /Symptoms/Complications ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Graves’ Disease: Pathogenesis and Clinical Findings
B & T lymphocyte mediated autoimmunity attack TSH receptor -> Continuous
the etiology Signs ... /Symptoms: - Pretibial ... GravesDisease #pathophysiology ... #endocin #endocrinology ... #symptoms #signs
Giant Cell (Temporal) Arteritis: Pathogenesis and investigations
Risk Factors:
 - Unclear environmental triggers (may be viral, not
not proven) - Genetic ... yrs old; F>M Signs ... /Symptoms: - Fever ... Temporal #Arteritis #Pathophysiology ... #Diagnosis #Signs
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
Primary Hyperthyroidism - Pathogenesis and Clinical Findings

Note: Although rare, gestational diseases can lead to thyrotoxicosis due
Signs/Symptoms: ... Hyperthyroidism #endocrinology ... #pathophysiology
Growth Hormone Excess - Pathogenesis and clinical findings
 • Acromegaly and gigantism share the same pathophysiology
share the same pathophysiology ... Overproduction #diagnosis #signs ... #symptoms #endocrinology ... #pathophysiology
Feedback Loop: Growth Hormone (GH)
Growth Hormone:
 • Liver -> GHR activates JAK-STAT pathway -> Incr IGF1
activates lipolysis Signs ... /Symptoms: • GH ... #FeedbackLoop #endocrinology ... #pathophysiology
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 ... /Symptoms/Findings ... Agammaglobulinemia #XLinked #pathophysiology
Acute Otitis Media: Pathogenesis and Clinical Findings (in Children)
Upper Respiratory Tract Infection: 
 - Bacterial: Streptococcus
#OtitisMedia #pathophysiology ... #diagnosis #symptoms ... #signs #peds #pediatrics