10 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Metabolism A table ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Pediatrics #Table ... #NICU #Genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
the lab values table ... MetabolicEmergency #Genetics ... Pathophysiology #Diagnosis ... #Algorithm #Differential ... #Neonatology #Peds
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
and workup ... 1) Clinical diagnosis ... neuropsychological assessment ... hyperorality, - 25% genetic ... MNCD #Dementia #Differential
Hypomagnesemia - Etiologies by Mechanism

Decreased GI Uptake 
 - Poor dietary intake (particularly common in alcoholics)
syndrome - Genetic ... Hypomagnesemia #Differential ... #Diagnosis #Low ... #Magnesium #Table ... Classification #Causes #Workup
Chronic Diarrhea - Workup
Osmotic:
 • Consider food diary and trial avoiding certain foods or meds, Consider
Chronic Diarrhea - Workup ... certain foods or meds ... Malabsorptive: • Assessment ... Chronic #Diarrhea #Workup ... #diagnosis #differential
Causes of Secondary Hypertension - Differential Diagnosis and Screening Testing
Common causes: 
 • Renal parenchymal disease
Hypertension - Differential ... Diagnosis and Screening ... Epworth Sleepiness Score ... #Screening #Workup ... #table
Neonatal Infant Pain Scale (NIPS)

For infants less than one year of age, the Neonatal Infant Pain
to detect pain (Table ... A score of 0-2 indicates ... A score of 5 or ... #Diagnosis #Peds ... Infants #NIPS #Assessment
For children greater than one year who are preverbal, a well performing scale is the FLACC
scale is the FLACC score ... Consolability (Table ... #Diagnosis #Peds ... PainScale #rFLACC #Assessment
Peripartum Cardiomyopathy - Summary
1. Definition
 • Towards the end of pregnancy to 5 months postpartum
Differential Diagnosis ... Genetic predisposition ... during Delivery • Stable ... teratogenic GDMT meds ... Cardiomyopathy #diagnosis
Hyperthermic Toxidromes
Five toxidromes may present with overlapping features: hyperthermia, rhabdomyolysis, altered mental status/seizures.
 • Sympathomimetic -
serotoninergic meds ... disease caused by genetic ... Toxidromes #comparison #table ... #diagnosis #differential