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

A table of lab values compiled from UpToDate and
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
Syndrome Signs/Symptoms ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Causes of Pelvic Organ Prolapse - Differential Diagnosis Algorithm
Herniation of one or more pelvic organs
Risk factors:
Differential Diagnosis Algorithm ... Herniation of one or more ... Risk factors: genetics ... Rectum - Defecatory symptoms ... Differential #Diagnosis #Algorithm
Irritable Bowel Syndrome (IBS) - Pathophysiology, Diagnosis and Management Algorithm
Risk factors: Previous acute enteric infection, Female
Syndrome (IBS) - Pathophysiology ... and Management Algorithm ... factors affecting symptom ... - Less severe, more ... surgery, Menses - More
Attention Deficit Hyperactive Disorder (ADHD): Pathogenesis and clinical findings
 - For diagnosis, must have either 26
children, and is more ... - Males are more ... while females are more ... BehavioralDisorder #Pathophysiology ... signs #psychiatry #criteria
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
Lymphomas and Lymphoproliferative Disorders - Differential Diagnosis Algorithm
Hodgkin Lymphoma ~40% - Characteristic For Reed-Sternberg (RS) Cells
Differential Diagnosis Algorithm ... lymphadenopathy more ... pattern of spread, B symptoms ... Classification #pathophysiology ... #differential #algorithm
Amyotrophic Lateral Sclerosis (ALS) Summary
ALS: combination of the clinical examination finding of amyotrophy with the pathologic
lateral sclerosis Pathophysiology ... fasciculations Common Symptoms ... diagnosis: months - Criteria ... : El Escorial criteria ... at least two or more
Transverse Myelitis Overview

Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
monophasic Pathophysiology ... Diagnostic Criteria ... Bilateral signs and/or symptoms ... compression - More