36 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 #Differential ... #Neonatology #Peds
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 ... #Neonatology #Peds ... #Pediatrics #Table ... #NICU #Genetics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Syndrome Signs/Symptoms ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Etiologies of Hypoaldosteronism

Hyporeninemic Hypoaldosteronism (Low Renin, Low Aldosterone)
 - Diabetic Nephropathy 
 - NSAIDs
Non-Hyporeninemic Hypoaldosteronism (Normal
insufficiency - Critical ... illness - Genetic ... Hypoaldosteronism #Differential ... Aldosterone #Comparison #Table ... #Causes
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... enzyme 21-OHase causes ... Signs/Symptoms/Complications ... #genetics #endocrinology ... #peds #pediatrics
Chronic Hypertensive Retinopathy: Pathogenesis and clinical findings

Ophthalmic Artery Hypertension
Stage 1: Mild/vasoconstrictive
 • Acute and chronic vasospasm
Pathogenesis and clinical ... Hypertension Stage ... -> AV nicking Stage ... #Retinopathy #pathophysiology ... diagnosis #signs #symptoms
Refeeding Syndrome Overview

What Is It?
	• Electrolyte/fluid shifts caused by initiation of nutrition in severely malnourished patient.
severe clinical ... Post-operative state ... overload) Other Symptoms ... Syndrome #Nutrition #Differential ... #Diagnosis #Pathophysiology
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
survival is 93-95% Pathophysiology ... renal failure Clinical ... are not caused ... patients have no symptoms ... Self-limiting, chronic but stable
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
workup 1) Clinical ... MRI, iADL scale, ... Alzheimer - 1st cause ... hyperorality, - 25% genetic ... MNCD #Dementia #Differential
Acute Fatty Liver of Pregnancy (AFLP)
Pathophysiology:
 • Defect in fetal free fatty acid metabolism products →
Pregnancy (AFLP) Pathophysiology ... postpartum): • Initial symptoms ... = nonspecific (nausea ... infiltration) Differential ... Maternal Support - Critical