18 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... > Neonatal and infantile ... Syndrome #genetics #pathophysiology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... a scrotum #21HydroxylaseDeficiency ... #21OHD #pathophysiology ... endocrinology #peds #pediatrics
Systemic Lupus Erythematosus: Gastrointestinal Manifestations
 - Thrombosis of vessels in the pancreas, Vasculitis -> Acute Pancreatitis
Pancreatitis - Elevated Liver ... Complications #pathophysiology ... #signs #symptoms ... #diagnosis
Acute Fatty Liver of Pregnancy (AFLP)
Pathophysiology:
 • Defect in fetal free fatty acid metabolism products →
Pregnancy (AFLP) Pathophysiology ... postpartum): • Initial symptoms ... ) Differential Diagnosis ... obstetrics #obgyn #diagnosis ... #management #pathophysiology
Osteoporosis: Pathogenesis and risk factors

 • Age > 30 (post-peak bone mass)
 • Post-menopausal women ->
IBD • Chronic liver ... #Osteoporosis #pathophysiology ... #signs #symptoms ... #diagnosis
Complications of Measles: Pathogenesis and Clinical Findings
 • ADEM -> Fever, headache, neck stiffness, BBD, mental
N/V, elevated liver ... Complications #diagnosis ... #signs #symptoms ... #pathophysiology
Pediatric Parasomnias and Nightmares: Pathogenesis and clinical findings

Parasomnias - Micro-arousal episodes during SWS ->
Intense activation of
Pediatric Parasomnias ... Parasomnias #Nightmares #Pediatrics ... #Peds #pathophysiology ... #symptoms #pharmacology ... #diagnosis
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
chromosome 21) Signs / Symptoms ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Metformin Associated Lactic Acidosis (MALA) 

Pathophysiology of MALA
 - Metformin interferes with the activity of the
Acidosis (MALA) Pathophysiology ... cycle found in the liver ... anaerobic metabolism Diagnosis ... also includes symptoms ... Toxicity #Toxicology #Diagnosis
Primary Biliary Cirrhosis (PBC) - Summary

PBC Epidemiology:
 • Female:Male 9:1
 • Common European descent
 • Age:
65 years PBC Pathophysiology ... cholestasis → Cirrhosis/Liver ... PBC Signs and Symptoms ... or higher • Liver ... Differential Diagnosis