10 results
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
metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics
“Step by Step” – the new kid on the block – aims to risk stratify this
for each of the components ... of the algorithm ... Management #Pediatrics #Peds ... Infant #StepByStep #Algorithm ... Antibiotics #Risk #Stratification
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
Maculopapular - Diagnostic Algorithm
Pathophysiology:
- Catch-all term with a wide range of potential pathophysiologic mechanisms and causative
Maculopapular - Diagnostic Algorithm ... Pathophysiology ... Ill-appearing, vital sign ... Color #Targetoid #Algorithm ... #Differential #
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Developmental Delay - Differential ... Diagnosis Algorithm ... Syndromic • Genetic ... #Diagnosis #Algorithm ... #Causes #Peds #
Hypochloremia - Differential Diagnosis Algorithm

Cause - Decreased Intake:
 • Low salt in diet
 • Exclusive D5W
Hypochloremia - Differential ... Diagnosis Algorithm ... - Gitelman SIGNS ... Cl⁻ with other components ... #Pathophysiology
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
(parkinsonian signs ... hyperorality, - 25% genetic ... component - Frontal ... MNCD #Dementia #Differential
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
Preoperative Risk Evaluation

Major Pre-Op Questions:
1. Does the patient have any modifiable risk factors that could be
Key Components: ... physical exam - Key components ... event, follow ACC algorithm ... Cataract Plan for Meds ... Risk #Evaluation #stratification