The Calgary Guide to Understanding Disease @TheCalgaryGuide
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pathophysiology diagnosis psychiatry genetics gh growthhormone pediatrics peds pituitary 21hydroxylasedeficiency 21ohd acute alzheimersdisease anorexianervosa caudaequina chronic closedangle dementia diabetes diabeticketoacidosis
Growth Hormone Excess - Pathogenesis and clinical findings • Acromegaly and gigantism share the same pathophysiology
Growth Hormone Excess ... GH excess prior ... Carpal Tunnel Syndrome ... Overproduction #diagnosis #signs ... #symptoms #endocrinology
Primary Hyperthyroidism - Pathogenesis and Clinical Findings Note: Although rare, gestational diseases can lead to thyrotoxicosis due
thyrotoxicosis due to excess ... hyperthyroidism due to excess ... Signs/Symptoms: ... Hyperthyroidism #endocrinology
Systemic Lupus Erythematosus: Gastrointestinal Manifestations - Thrombosis of vessels in the pancreas, Vasculitis -> Acute Pancreatitis
- Budd Chiari Syndrome ... Gastrointestinal #Complications ... pathophysiology #signs ... #symptoms #diagnosis
Keratoconus: Pathogenesis and Clinical Findings Genetics • Family history of keratoconus • Ehlers-Danlos syndrome • Down, Turner,
Ehlers-Danlos syndrome ... Turner, Marfan syndromes ... / Symptoms / Complications ... • Rizutti's Sign ... pathophysiology #ophthalmology
Retinoblastoma: Pathogenesis and clinical findings • Sporadic mutation -> One allele of RB1 tumor suppressor gene
Retinoblastoma Signs ... / Symptoms / Complications ... pathophysiology #ophthalmology ... #diagnosis #signs ... #symptoms
Feedback Loop: Growth Hormone (GH) Growth Hormone: • Liver -> GHR activates JAK-STAT pathway -> Incr IGF1
activates lipolysis Signs ... /Symptoms: • GH ... lipid • GH excess ... #FeedbackLoop #endocrinology
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 / Complications ... geriatrics #diagnosis #signs ... #symptoms
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... /Complications: ... #PraderWilli #Syndrome
Cauda Equina Syndrome Causes: • Large lumbar degenerative disc herniation (central) • Severe lumbar spondylosis • Neoplasm
Cauda Equina Syndrome ... lumbar spine Signs ... / Symptoms / Complications ... #CaudaEquina #Syndrome ... #signs
Bulimia Nervosa: Signs and Symptoms Associated Psychological / Behavioural Features • Feelings of shame, guilt and embarrassment
Bulimia Nervosa: Signs ... and Symptoms Associated ... related to complications ... weight Russell's Sign ... inducing vomiting #BulimiaNervosa
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