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diagnosis endocrinology genetics growthhormone peds pituitary 21hydroxylasedeficiency 21ohd alzheimersdisease biliary cholangitis cirrhosis differential excess feedbackloop geriatrics glftap heat heatstroke hepatology
Feedback Loop: Growth Hormone (GH) Growth Hormone: • Liver -> GHR activates JAK-STAT pathway -> Incr IGF1
Growth Hormone (GH ... Growth Hormone: • Liver ... activates lipolysis Signs ... /Symptoms: • GH ... endocrinology #pathophysiology
Growth Hormone Excess - Pathogenesis and clinical findings • Acromegaly and gigantism share the same pathophysiology
share the same pathophysiology ... • Other rare causes ... Overproduction #diagnosis #signs ... #symptoms #endocrinology ... #pathophysiology
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
chromosome 21) Signs ... AlzheimersDisease #Dementia ... #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... > Neonatal and infantile ... Syndrome #genetics #pathophysiology ... #peds #pediatrics
Pituitary Mass Effects - Pathogenesis and Clinical Findings • Pituitary turnors are almost always a benign
For pituitary masses ... following order; GH ... Signs / Symptoms ... Headaches • Nausea ... mnemonic #GLFTAP #pathophysiology
Primary Biliary Cirrhosis (PBC) - Summary PBC Epidemiology: • Female:Male 9:1 • Common European descent • Age:
65 years PBC Pathophysiology ... intralobular bile ducts causes ... failure PBC Signs ... and Symptoms: ... or higher • Liver
Sarcoidosis - Diagnosis and Management Summary Epidemiology 1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
survival is 93-95% Pathophysiology ... are not caused ... heart (2-5%), liver ... Diagnosis #Management #Signs ... #Symptoms
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... endocrinology #peds #pediatrics
Heat Illnesses and Heat Stroke - Differential Diagnosis Framework Heat Cramps: • Muscle pain or spasm -
Muscles, Kidneys, Liver ... Collapse: • Pathophysiology ... → Syncope • Signs ... /Symptoms: - Lightheadedness ... differential #diagnosis #causes
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