11 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
from UpToDate and Pediatrics ... See IEM schema for ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Table #NICU #Genetics ... #IEM #Laboratory
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Table #IEM #NICU
Triquetral Fracture
The triquetrum is the second most commonly fractured carpal bone. Look for the "pooping duck
commonly fractured carpal ... "pooping duck sign ... "pooping duck sign ... MH/CCF/CWRU EM ... Orthopedics #Sports #MSK
Scapholunate Dissociation
The spacing between all carpal bones should be 1-2 mm, look for the "Terry Thomas"
spacing between all carpal ... "Terry Thomas" sign ... ("Terry Thomas sign ... MH/CCF/CWRU EM ... Orthopedics #Sports #MSK
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Total Anomalous Pulmonary Venous Return (TAPVR)
 • Introduction
 • Classification
 • Pathophysiology of TAPVR
 • Presentation
Classification • Pathophysiology ... Classic “snowman sign ... Outcomes by Cara ... cardiology #peds #pediatrics
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
Trendelenburg Gait: Pathogenesis and clinical findings

Skeletal Pathology of the Hip
 • Arthritis
 • Congenital hip dysplasia
in the Spinal canal ... Trendelenburg #Gait #pathophysiology ... causes #symptoms #signs ... #diagnosis #msk
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
Signs of immunodeficiency ... Genetic Predisposition ... humoral immunity Signs ... IgA, IgG, and IgM ... Agammaglobulinemia #XLinked #pathophysiology
Scoliosis: Pathogenesis and clinical findings (Cobb Angle > 10 Degrees)

 • Incr Axial rotation of thoracic
intervertebral canal ... #Scoliosis #pathophysiology ... #msk #diagnosis ... #signs #symptoms