10 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 #Differential ... #Neonatology #Peds
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
from UpToDate and Pediatrics ... 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 ... • Deletion of critical ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Pediatric Parasomnias and Nightmares: Pathogenesis and clinical findings

Parasomnias - Micro-arousal episodes during SWS ->
Intense activation of
Pediatric Parasomnias ... Pathogenesis and clinical ... system -> • Fear ... Parasomnias #Nightmares #Pediatrics ... #Peds #pathophysiology
Acute Otitis Media: Pathogenesis and Clinical Findings (in Children)
Upper Respiratory Tract Infection: 
 - Bacterial: Streptococcus
Pathogenesis and Clinical ... in the middle ear ... #OtitisMedia #pathophysiology ... symptoms #signs #peds ... #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Meralgia paresthetica: Pathogenesis and Clinical Findings
Compression/injury of Lateral Femoral Cutaneous Nerve (LFCN) -> Meralgia paresthetica
 •
Pathogenesis and Clinical ... inguinal ligament (near ... MeralgiaParesthetica #MSK ... #pathophysiology ... #differential #
Peripartum Cardiomyopathy - Summary
1. Definition
 • Towards the end of pregnancy to 5 months postpartum
Differential Diagnosis ... Genetic predisposition ... with Cardio-OB team ... teratogenic GDMT meds ... with Cardio-OB team
BEE Syndromes - Non-inflammatory Causes

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

Visual or auditory symptoms in
Brain, Eye, and Ear ... meningitis • Genetic ... MRI lesions and clinical ... consistent with MS ... noninflammatory #differential
Transverse Myelitis Overview

Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
in the US each year ... a five to ten-year ... monophasic Pathophysiology ... Transverse Myelitis - Clinical ... management #neurology #differential