10 results
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
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... delayed puberty -> Infertility ... PraderWilli #Syndrome #genetics ... pathophysiology #peds ... #pediatrics
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
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
MetabolicEmergency #Genetics ... Pathophysiology #Diagnosis ... #Algorithm #Differential ... #Neonatology #Peds ... #Pediatrics #Table
Causes of Acute Pediatric Cough - Differential Diagnosis Algorithm
No Fever, No Tachypnea
 - Normal Chest Auscultation
Causes of Acute Pediatric ... Cough - Differential ... Diagnosis Algorithm ... Bronchitis - No URTI Symptoms ... #Causes #Peds #
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... Hirsutism & acne • Infertility ... pathophysiology #genetics ... endocrinology #peds ... #pediatrics
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Developmental Delay - Differential ... Diagnosis Algorithm ... Syndromic • Genetic ... #Causes #Peds # ... Pediatrics
Combination of Skin Findings and Arthritis in Pediatrics Patient - Differential Diagnosis
Malar rash: 
 • A
Patient - Differential ... Diagnosis Malar ... not be seen try focus ... #diagnosis #peds ... #pediatrics
Age Distribution of Hypertension Etiologies
< 1 month
 - Renal arterial thrombosis
 - Congenital renal disease
 -
- Mendelian genetic ... Causes #Secondary #diagnosis ... #differential # ... age #pediatrics ... #peds
Pyogenic liver abscess in children
Common bacterial causes in children:
 • S.aureus
 • Strep spp
 • Enteric
from contiguous focus ... liver #abscess #pediatrics ... #children #peds ... #differential # ... diagnosis #hepatology