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
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings

 - Infectious Agents - 50% have
IgA Vasculitis – ... predisposition - Various genetic ... nephrotic/nephritic syndrome ... HenochScholeinPurpura #Pathophysiology ... Diagnosis #Signs #Symptoms
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
Genetic Predisposition ... immunity Signs/Symptoms ... undetectable levels of IgA ... , IgG, and IgM ... Agammaglobulinemia #XLinked #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
Growth Hormone Excess - Pathogenesis and clinical findings
 • Acromegaly and gigantism share the same pathophysiology
share the same pathophysiology ... Bitemporal hemianopsia IGF ... Carpal Tunnel Syndrome ... diagnosis #signs #symptoms ... endocrinology #pathophysiology
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
mutations - Down syndrome ... chromosome 21) Signs / Symptoms ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Panic Disorder: Pathogenesis and clinical findings
Social Factors
 • Parenting and infant attachment
 • Childhood illness/abuse
 •
Neurotic personality Genetics ... Psychological Symptoms ... PanicDisorder #Anxiety #BehavioralDisorder ... #Pathophysiology ... #diagnosis #symptoms
Acute Otitis Media: Pathogenesis and Clinical Findings (in Children)
Upper Respiratory Tract Infection: 
 - Bacterial: Streptococcus
#OtitisMedia #pathophysiology ... #diagnosis #symptoms ... #signs #peds #pediatrics
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Clinical Findings Genetics ... Ehlers-Danlos syndrome ... Turner, Marfan syndromes ... Keratoconus Signs / Symptoms ... #Keratoconus #pathophysiology
Childhood Immunization Schedule: Why we immunize
 • Diphtheria Toxin -> URT inflammation causes pseudomembrane with hardened
hemorrhagic rash; symptoms ... non-specific viral symptoms ... #Immunization #peds ... #pediatrics #pathophysiology