10 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms ... delayed puberty -> Infertility ... #genetics #pathophysiology ... #peds #pediatrics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
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
additions, for diagnosing ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics ... Laboratory #Patterns #diagnosis
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Developmental Delay - Differential ... Diagnosis Algorithm ... • Genetic Disorder ... #Diagnosis #Algorithm ... #Causes #Peds #
Joint Disorders - Differential Diagnosis Algorithm
Monoarthritis
 • Septic
 • Crystalline
     - Gout
Joint Disorders - Differential ... Diagnosis Algorithm ... arthritis - (Reiter’s syndrome ... should have other symptoms ... Diagnosis #Algorithm
Causes of Male Infertility - Differential Diagnosis Algorithm
Sperm Transport:
 • Vasectomy
 • Cystic fibrosis gene mutation
Causes of Male Infertility ... - Differential ... Diagnosis Algorithm ... High FSH/LH: • Genetic ... Diagnosis #Algorithm
BEE Syndromes - Non-inflammatory Causes

Immune-mediated conditions affecting the Brain, Eye, and Ear

Visual or auditory symptoms in
conjunction with symptoms ... meningitis • Genetic ... consistent with MS ... noninflammatory #differential ... #diagnosis
Lymphomas and Lymphoproliferative Disorders - Differential Diagnosis Algorithm
Hodgkin Lymphoma ~40% - Characteristic For Reed-Sternberg (RS) Cells
Diagnosis Algorithm ... pattern of spread, B symptoms ... Amy Chung, MD, MSc ... Classification #pathophysiology ... #algorithm
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
Etiology: • Pathophysiology ... Neurological symptoms ... Reversible course Differential ... Diagnosis: • ... Seizures: Treat with AEDs
PFAPA Syndrome - Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis

EPIDEMIOLOGY:
PFAPA is the most common syndrome entailing
fever (FMF) PATHOPHYSIOLOGY ... DIFFERENTIAL DIAGNOSIS ... The diagnosis of ... neutropenia (CyN) This genetic ... #Diagnosis