15 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
Prader-Willi Syndrome Signs ... sleep apnea, cor pulmonale ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Giant Cell (Temporal) Arteritis: Pathogenesis and investigations
Risk Factors:
 - Unclear environmental triggers (may be viral, not
not proven) - Genetic ... yrs old; F>M Signs ... Anemia - Giant cells ... Temporal #Arteritis #Pathophysiology ... #Diagnosis #Signs
Total Anomalous Pulmonary Venous Return (TAPVR)
 • Introduction
 • Classification
 • Pathophysiology of TAPVR
 • Presentation
Total Anomalous Pulmonary ... Classification • Pathophysiology ... Classic “snowman sign ... Total #Anomalous #Pulmonary ... management #cardiology #peds
Diagnostic Algorithm for Suspected Pulmonary Embolism

Well's Criteria for PE
 • Clinical Signs and Symptoms of DVT
Diagnostic Algorithm ... for Suspected Pulmonary ... Embolism Well's ... PE • Clinical Signs ... AcutePE #Diagnosis #Algorithm
Fat Embolism Syndrome
Trauma to the long bone or pelvis accounts for —9096 of cases. The diagnosis
the long bone or pelvis ... Pathophysiology ... onset widespread pulmonary ... Syndrome #Diagnosis #Signs
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 ... from precursor cells ... humoral immunity Signs ... Agammaglobulinemia #XLinked #pathophysiology
Uncommon Causes of Noncardiogenic Pulmonary Edema (NCPE) - Differential Diagnosis Framework

High Altitude Pulmonary Edema:
 • Accumulation
some red blood cells ... • Signs/Symptoms ... • Signs/Symptoms ... - The classic signs ... • Pathophysiology
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