7 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 ... #NICU #Genetics ... #IEM #Laboratory
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)
disorders (MNCD): Diagnosis ... deficiency, ... laboratory ... hyperorality, - 25% genetic ... MNCD #Dementia #Differential ... #Subtypes #Classification
Hypomagnesemia - Etiologies by Mechanism

Decreased GI Uptake 
 - Poor dietary intake (particularly common in alcoholics)
syndrome - Genetic ... Hypomagnesemia #Differential ... #Diagnosis #Low ... #Magnesium #Table ... #Classification
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
6/02/2022 UPDATE: This assay is designed to detect non-variola orthopoxviruses, including monkeypox virus. It is not
monkeypox virus or to differentiate ... 2022-lab-advisory-CLARIFICATION-CDC_Publishes_Non-variola_Orthopoxvirus_PCR_Testing_Procedure ... reference level Laboratory ... See table below ... #SmallPox #Laboratory