7 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
of information: Pediatrics ... , UpToDate #Pediatrics ... #Diagnosis #Algorithm ... #Differential # ... Neonatology #Peds #Pediatrics
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
from UpToDate and Pediatrics ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... Neonatology #Peds #Pediatrics ... #Table #NICU #Genetics
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Causes of Developmental ... Delay - Differential ... Diagnosis Algorithm ... Syndromic • Genetic ... Pediatrics
Causes of Growth Restriction - Small for Gestational Age - Differential Diagnosis Algorithm
Maternal
 • Chronic Maternal
Causes of Growth ... Gestational Age - Differential ... Diagnosis Algorithm ... Chromosomal Anomaly • Genetic ... #Pediatrics
Causes of Urinary Incontinence - Differential Diagnosis Algorithm
 - Transient - Easily reversible cause (DIAPPERS)
Incontinence - Differential ... Diagnosis Algorithm ... Contraction - Signs ... #Diagnosis #Algorithm ... #Mnemonic #Geriatrics
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
Alzheimer - 1st cause ... (parkinsonian signs ... hyperorality, - 25% genetic ... MNCD #Dementia #Differential ... Workup #Diagnosis #Geriatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics