13 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm
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
Infographic depicting the main pearls of various types of congenital adrenal hyperplasia for the medical student.
#CAH #algorithm ... #causes #pediatrics ... Endocrinology #Adrenal #pathophysiology
gestational diabetes algorithm
#Infant #Diabetic #Mother #Pediatrics #Neonatology #IDM #NICU #OBGYN #Diagnosis #Pathophysiology #Maternal #Complications #Peds #Newborn
gestational diabetes algorithm ... Diabetic #Mother #Pediatrics ... OBGYN #Diagnosis #Pathophysiology ... #Maternal #Complications
Causes of Growth Discrepancy: Large for Gestational Age - Differential Diagnosis Algorithm
Maternal Factors:
 • Multiparity
 •
Causes of Growth ... Differential Diagnosis Algorithm ... >41 weeks) • Genetic ... Differential #Diagnosis #Algorithm ... #Causes #Obstetrics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Signs/Symptoms/Complications ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Causes of Developmental ... Differential Diagnosis Algorithm ... Syndromic • Genetic ... #Causes #Peds # ... Pediatrics
Causes of Growth Restriction - Small for Gestational Age - Differential Diagnosis Algorithm
Maternal
 • Chronic Maternal
Causes of Growth ... Differential Diagnosis Algorithm ... Chromosomal Anomaly • Genetic ... #Causes #Obstetrics ... #Pediatrics
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
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Alzheimer's (99% of cases ... Alzheimer's (1% of cases ... Signs / Symptoms / Complications ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis