12 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
Signs and Symptoms of Respiratory Distress Through the Years. 

#signs #symptoms #diagnosis #differential #neonatal #pediatrics #adult
Signs and Symptoms ... #signs #symptoms ... #diagnosis #differential ... #neonatal #pediatrics ... #adult #peds #pulmonary
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 ... #Pediatrics #Table ... #NICU #Genetics
Epiglottitis - Swollen inflamed epiglottis 
Clinical (Rapid onset) 
 • Fever 
 • Sore throat
#Epiglottitis #Signs ... #Causes #Diagnosis ... #Differential # ... Peds #Pediatrics
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 ... PVO Present • Diagnosis ... Classic “snowman sign ... management #cardiology #peds ... #pediatrics #summary
Combination of Skin Findings and Arthritis in Pediatrics Patient - Differential Diagnosis
Malar rash: 
 • A
Patient - Differential ... Diagnosis Malar ... migrans: • Target sign ... #diagnosis #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
Hypochloremia - Differential Diagnosis Algorithm

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

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
disorders (MNCD): Diagnosis ... (parkinsonian signs ... hyperorality, - 25% genetic ... MNCD #Dementia #Differential ... #Geriatrics #Workup