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 ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Post-Traumatic Stress Disorder (PTSD)
Neurochemical abnormalities
 • Hyper-vigilance
 • Emotional hyper-arousal
 • Exaggerated startle reflex
 • Anxiety
of trauma • Avoidance ... BehavioralDisorder #Pathophysiology ... diagnosis #symptoms #signs
Obsessive-Compulsive Disorder (OCD): Pathogenesis and clinical findings

Psychological Hypothesis
 • Cognitive behavioral model: Emotional disturbance arising from
or stimuli • Avoidance ... regions suspected Genetics ... Diagnosis #Psychiatry #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 ... 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
Avoidant Personality Disorder (AVPD): Pathogenesis and Clinical Findings
 • Restraint - Shows excessive restraint in intimate
Avoidant Personality ... inferior #AVPD #Avoidant ... Diagnosis #Psychiatry #Criteria ... #Signs #Symptoms
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Clinical Findings Genetics ... > Keratoconus Signs ... Ring • Munson's sign ... • Rizutti's Sign ... #Keratoconus #pathophysiology
Panic Disorder: Pathogenesis and clinical findings
Social Factors
 • Parenting and infant attachment
 • Childhood illness/abuse
 •
Neurotic personality Genetics ... Experiential Avoidance ... • Avoidance of ... BehavioralDisorder #Pathophysiology ... diagnosis #symptoms #signs
Major Depressive Disorder (MDD): Pathogenesis and Clinical Findings

Symptoms (included in DSM 5 criteria) - Present during
included in DSM 5 criteria ... MoodDisorders #Diagnosis #Pathophysiology ... #Signs #Symptoms
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