19 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
the lab values table ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm ... Peds #Pediatrics #Table
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Metabolism A table ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... Peds #Pediatrics #Table ... #NICU #Genetics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... • Deletion of critical ... Signs/Symptoms/Complications ... PraderWilli #Syndrome #genetics ... #pathophysiology
Osteoarthritis (OA): Clinical findings
 • Stimulation of joint nociceptors in subchondral bone -> Pain with loading
Osteoarthritis (OA): Clinical ... cartilage means direct ... Osteoarthritis #OA #pathophysiology ... signs #symptoms #complications
Acute Fatty Liver of Pregnancy (AFLP)
Pathophysiology:
 • Defect in fetal free fatty acid metabolism products →
Pregnancy (AFLP) Pathophysiology ... : • Defect in fetal ... Maternal Support - Critical ... Monitor and Treat Complications ... diagnosis #management #pathophysiology
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Pathogenesis and Clinical ... Signs / Symptoms / Complications ... : • Deficit in ... AlzheimersDisease #Dementia #pathophysiology
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
Classification of Pelvic Ring Fractures: Mechanisms, Clinical Features and Complications
 • Anterior Posterior Compression (APC) -
Fractures: Mechanisms, Clinical ... Features and Complications ... Compression (APC) - Direct ... MSK #diagnosis #complications ... #pathophysiology
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
GrepMed Handbook Clinical ... • Macroadenoma direct ... malignancy Pathophysiology ... phenytoin, minoxidil), genetic ... Endocrinology #Treatment #Pathophysiology
Pituitary Mass Effects - Pathogenesis and Clinical Findings
 • Pituitary turnors are almost always a benign
Pathogenesis and Clinical ... less common and affect ... Signs / Symptoms / Complications ... mnemonic #GLFTAP #pathophysiology