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

A table of lab values compiled from UpToDate and
for diagnosing acute ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
Irritable Bowel Syndrome (IBS) - Pathophysiology, Diagnosis and Management Algorithm
Risk factors: Previous acute enteric infection, Female
(IBS) - Pathophysiology ... and Management Algorithm ... factors: Previous acute ... factors affecting symptom ... common: Food, Acute
Acute Spinal Cord Injuries: Pathogenesis and clinical findings
 • Anterior Cord Syndrome -> Anterior spinal artery
Acute Spinal Cord ... weakness and #Acute ... #diagnosis #pathophysiology ... #signs #symptoms ... #msk #orthopedics
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
survival is 93-95% Pathophysiology ... and progressive Acute ... rarely preceded by acute ... anterior/posterior MSK ... : ACUTE, fever,
Lymphomas and Lymphoproliferative Disorders - Differential Diagnosis Algorithm
Hodgkin Lymphoma ~40% - Characteristic For Reed-Sternberg (RS) Cells
Differential Diagnosis Algorithm ... pattern of spread, B symptoms ... Treated Like Acute ... Amy Chung, MD, MSc ... Classification #pathophysiology
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
Etiology: • Pathophysiology ... Neurological symptoms ... : Acute onset 2 ... , ADEM, Acute toxic ... Seizures: Treat with AEDs
PFAPA Syndrome - Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis

EPIDEMIOLOGY:
PFAPA is the most common syndrome entailing
fever (FMF) PATHOPHYSIOLOGY ... reporting such symptoms ... tender • Other symptoms ... several other symptoms ... neutropenia (CyN) This genetic