26 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Syndrome Signs/Symptoms ... > Neonatal and infantile ... #pathophysiology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Feedback Loop: Growth Hormone (GH)
Growth Hormone:
 • Liver -> GHR activates JAK-STAT pathway -> Incr IGF1
Growth Hormone: • Liver ... lipolysis Signs/Symptoms ... #FeedbackLoop #endocrinology ... #pathophysiology
Graves’ Disease: Pathogenesis and Clinical Findings
B & T lymphocyte mediated autoimmunity attack TSH receptor -> Continuous
Pathogenesis and Clinical ... etiology Signs/Symptoms ... GravesDisease #pathophysiology ... #endocin #endocrinology ... #symptoms #signs
Complications of Measles: Pathogenesis and Clinical Findings
 • ADEM -> Fever, headache, neck stiffness, BBD, mental
Pathogenesis and Clinical ... N/V, elevated liver ... diagnosis #signs #symptoms ... #pathophysiology
Acute Fatty Liver of Pregnancy (AFLP)
Pathophysiology:
 • Defect in fetal free fatty acid metabolism products →
Acute Fatty Liver ... Pregnancy (AFLP) Pathophysiology ... postpartum): • Initial symptoms ... Maternal Support - Critical ... diagnosis #management #pathophysiology
Primary Hyperthyroidism - Pathogenesis and Clinical Findings

Note: Although rare, gestational diseases can lead to thyrotoxicosis due
Pathogenesis and Clinical ... Signs/Symptoms: ... Hyperthyroidism #endocrinology ... #pathophysiology
Growth Hormone Excess - Pathogenesis and clinical findings
 • Acromegaly and gigantism share the same pathophysiology
Pathogenesis and clinical ... share the same pathophysiology ... diagnosis #signs #symptoms ... #endocrinology ... #pathophysiology
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Pathogenesis and Clinical ... chromosome 21) Signs / Symptoms ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Hypothyroid Myopathy
Very common (up to 80% ) in patients with hypothyroidism
Pathophysiology:
 • T4 deficiency leads to
hypothyroidism Pathophysiology ... fibers Spectrum of Clinical ... Hypothyroid #Myopathy #pathophysiology ... #signs #symptoms ... #endocrinology