12 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
A table of lab ... values compiled ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... Peds #Pediatrics #Table ... #NICU #Genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
See the lab values ... table for supplemental ... MetabolicEmergency #Genetics ... Diagnosis #Algorithm #Differential ... Peds #Pediatrics #Table
Some of the techniques used for Antenatal Diagnosis

Amniocentesis 
 - Chromosome/micro-array and DNA analysis 
 -
Fetal infection — PCR ... transfusion Chorionic villus ... inborn error of metabolism ... Preimplantation genetic ... Non-invasive genetic
Differential Diagnosis of Jaundice, Presentation Pattern #Diagnosis #EM #IM #GI #Jaundice #Pattern #LFTs #Workup #Table #Differential
Differential Diagnosis ... Pattern #Diagnosis #EM ... #IM #GI #Jaundice ... #LFTs #Workup #Table ... #Differential
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 ... - Various rare genetic ... #Diagnosis #Table
Causes of ileitis beyond Crohn’s disease and infections include systemic disorders -spondyloarthropathies, vasculitides, ischemia, and amyloidosis
See below for table ... complements of our GI ... www.ncbi.nlm.nih.gov/pmc ... #Ileitis #Differential ... #Table
Hypomagnesemia - Etiologies by Mechanism

Decreased GI Uptake 
 - Poor dietary intake (particularly common in alcoholics)
Mechanism Decreased GI ... hypomagnesemia Excessive GI ... syndrome - Genetic ... Hypomagnesemia #Differential ... Low #Magnesium #Table
Weakness - Differential Diagnosis Framework

Approach To Weakness:
 • Non-neuromuscular disorder (Cardiac, pulmonary etc)
 • CNS ->
Weakness - Differential ... Radiation • Metabolic ... Hypothyroid • Metabolic ... Malignancy-associated myositis • Genetic ... electromyographic (EMG
Chronic Abdominal Pain Causes - Differential Diagnosis Framework

Many patients with chronic abdominal pain have had prior
Pain Causes - Differential ... dysfunction • PSC ... mesenteric ischemia • GI ... appendages • FMF ... Chronic #Causes #Differential
Causes of Secondary Hypertension - Workup and Differential Diagnosis
Approach (when evaluation should be done):
1. Severe or
Hypertension - Workup and Differential ... with previously stable ... values. 3. ... hypokalemia and metabolic ... Workup #causes #Differential