9 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Metabolism A table ... See IEM schema for ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #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 ... #Table #IEM #NICU
Etiologies of Hypernatremia - Differential Diagnosis
GI losses / Insensible losses
Sodium Overload
Transcellular Movement of Water
Central Diabetes Insipidus
Hypernatremia - Differential ... Diagnosis GI losses ... - Various rare genetic ... #Diagnosis #Table ... #Causes
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
neuropsychological assessment ... (parkinsonian signs ... hyperorality, - 25% genetic ... MNCD #Dementia #Differential ... #Geriatrics #Workup
Maculopapular Rashes - THE ALGORITHMIC APPROACH 

The term maculopapule is a portmanteau, a combination
of macule and
macule and papule (Table ... diagnosis; however ... rashes but without signs ... pathognomonic for SJS or EM ... require further assessment
Uncommon Causes of Noncardiogenic Pulmonary Edema (NCPE) - Differential Diagnosis Framework

High Altitude Pulmonary Edema:
 • Accumulation
Edema (NCPE) - Differential ... Diagnosis Framework ... • Other common assessment ... and diffuse Neurogenic ... diagnosis #NCPE
It is important to recognize Acute Decompensated Heart Failure (ADHF) as more than just simply a
The assessment of ... Signs of congestion ... the determined cause ... #diagnosis #differential ... cardiology #treatment #table
Newborn Infant - Routine Examination

Birthweight, gestational age and birthweight percentile are noted.
General observation Of the baby's
is also a late sign ... paediatrician or geneticist ... always needs urgent assessment ... Examination #Peds #Pediatrics ... #Diagnosis
Rhabdomyolysis - Differential Diagnosis Framework
Rhabdomyolysis = Destruction of skeletal muscle with leakage of contents into circulation.
Differential Diagnosis ... Compression • Genetic ... Amphetamines, LSD UW IM ... #Diagnosis #Causes ... #nephrology #table