8 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 ... Peds #Pediatrics #Table ... #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 # ... Peds #Pediatrics #Table
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
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 ... Low #Magnesium #Table ... #Classification
Causes of Dysuria - Differential Diagnosis Algorithm
Pyuria - Leukocytes on Dipstick/Microscopy
 - Bacteriuria & Hematuria -
Causes of Dysuria - Differential ... Diagnosis Algorithm ... • Upper ... Neoplasm - Non-Pathogenic ... #Diagnosis #Algorithm
Pragmatic diagnostic algorithm for hypokalemia. 
***Typical presentations: 
 • Vomiting: urine Na/Cl > 1.6, low urine
Pragmatic diagnostic algorithm ... confirmed via genetic ... dependent upon local laboratory ... hypokalemia #diagnosis #differential ... #algorithm #nephrology
6/02/2022 UPDATE: This assay is designed to detect non-variola orthopoxviruses, including monkeypox virus. It is not
monkeypox virus or to differentiate ... should use this algorithm ... reference level Laboratory ... See table below ... #SmallPox #Laboratory
PFAPA Syndrome - Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis

EPIDEMIOLOGY:
PFAPA is the most common syndrome entailing
DIFFERENTIAL DIAGNOSIS ... neutropenia (CyN) This genetic ... likelihood of an acute upper ... not have a known pathogenic