12 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
Lymphomas and Lymphoproliferative Disorders - Differential Diagnosis Algorithm
Hodgkin Lymphoma ~40% - Characteristic For Reed-Sternberg (RS) Cells
Lymphoproliferative Disorders ... Differential Diagnosis Algorithm ... pattern of spread, B symptoms ... Classification #pathophysiology ... #Hematology #Diagnosis
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
Functional GI Disorders in IBD - IBD Algorithm

Background:
 • 25-40% of IBD in remission have IBS
in IBD - IBD Algorithm ... remission have IBS symptoms ... correlation of lBS-type symptoms ... narcotic use FGID Pathphysiology ... IBDAlgorithm #IBD #Algorithm
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
immunodeficiency may appear 3-9 ... Genetic Predisposition ... immunity Signs/Symptoms ... Agammaglobulinemia #XLinked #pathophysiology
Primary Biliary Cirrhosis (PBC) - Summary

PBC Epidemiology:
 • Female:Male 9:1
 • Common European descent
 • Age:
• Female:Male 9: ... 65 years PBC Pathophysiology ... PBC Signs and Symptoms ... diagnosis #workup #hepatology
Panic Disorder: Pathogenesis and clinical findings
Social Factors
 • Parenting and infant attachment
 • Childhood illness/abuse
 •
Panic Disorder: ... Neurotic personality Genetics ... heritability >> Panic Disorder ... BehavioralDisorder #Pathophysiology ... #diagnosis #symptoms
Adhesive Capsulitis (Frozen Shoulder) - Pathogenesis and Clinical Findings

 • Primary (Idiopathic): Unknown etiology, but associated
with autoimmune disorders ... stage, lasts 2 - 9 ... FrozenShoulder #pathophysiology ... #diagnosis #symptoms