11 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
of information: Pediatrics ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... 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
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
Alzheimer - 1st cause ... hyperorality, - 25% genetic ... MNCD #Dementia #Differential ... #Subtypes #Classification ... #Geriatrics #Workup
Approach to Neonatal Jaundice

Causes of pathologic hyperbilirubinemia can be classified as due to (1) increased bilirubin
Neonatal Jaundice Causes ... Diagnosis #Peds #Pediatrics ... Jaundice #Algorithm #Differential ... #Workup #bilirubinemia
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Causes of Developmental ... Delay - Differential ... Syndromic • Genetic ... Diagnosis #Algorithm #Causes ... #Peds #Pediatrics
Hypomagnesemia - Etiologies by Mechanism

Decreased GI Uptake 
 - Poor dietary intake (particularly common in alcoholics)
syndrome - Genetic ... Hypomagnesemia #Differential ... Magnesium #Table #Classification ... #Causes #Workup
The Dementia Umbrella

Dementia is an umbrella term that describes a collection of symptoms that are caused
symptoms that are caused ... Dementia #Umbrella #Differential ... Types #Subtypes #Classification ... #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 ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
malignancy Pathophysiology ... Differential Diagnosis ... phenytoin, minoxidil), genetic ... Diagnosis and Workup ... or refractory cases
Causes of Growth Restriction - Small for Gestational Age - Differential Diagnosis Algorithm
Maternal
 • Chronic Maternal
Causes of Growth ... Gestational Age - Differential ... Chromosomal Anomaly • Genetic ... Diagnosis #Algorithm #Causes ... #Obstetrics #Pediatrics