9 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
from UpToDate and Pediatrics ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... Neonatology #Peds #Pediatrics ... #Table #NICU #Genetics
Hypocalcemia Workup - Differential Diagnosis Algorithm
 • Low Magnesium, High Magnesium - Functional Hypoparathyroidism
 • High
Hypocalcemia Workup ... Differential Diagnosis Algorithm ... Hypoparathyroidism: Autoimmune, Genetic ... #Hypocalcemia #Workup ... #nephrology #calcium
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
Diagnosis and workup ... (parkinsonian signs ... hyperorality, - 25% genetic ... #Diagnosis #Geriatrics ... #Workup
Acute Kidney Injury - AKI Workup Algorithm and Differential Diagnosis
Baseline Investigations: full blood count with differential,
Kidney Injury - AKI Workup ... Algorithm and Differential ... clinical context and signs ... #Injury #AKI #Workup ... #Algorithm #Differential
Hypophosphatemia - Differential Diagnosis Algorithm
Appropriately Low Kidney Phosphate Excretion:
 • Decreased GI Absorption: Chronic Diarrhea, Antacids,
Differential Diagnosis Algorithm ... Alkalosis, Tumor Genesis ... Differential #Diagnosis #Algorithm ... #nephrology #phosphorus ... #workup
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Weakness - Differential Diagnosis Framework

Approach To Weakness:
 • Non-neuromuscular disorder (Cardiac, pulmonary etc)
 • CNS ->
Lack of UMN/LMN signs ... Malignancy-associated myositis • Genetic ... dystrophies Work ... aminotransferases • Serology ... Differential #Diagnosis #neurology