49 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Lab patterns seen ... A table of lab ... values compiled ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Table #NICU #Genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
See the lab values ... of information: Pediatrics ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... Pathophysiology #Diagnosis #Algorithm
Harlequin Ichthyosis

Rare genetic disorder that results in thickened skin over nearly the entire surface of the
Ichthyosis Rare genetic ... Harlequin #Ichthyosis #clinical ... #video #physicalexam ... #pediatrics #genetics
Clinical features of varicose vein disease and Trendelenburg Brodie test for venous valve competence
Varicose veins result
Clinical features ... test for venous valve ... absent or faulty valves ... that result in abnormal ... TrendelenburgBrodie #test #physicalexam
Evaluation of suspected incomplete Kawasaki Disease

1. AHA consensus recommendations
2. Infants ≤6 months old on day ≥7
if they have no clinical ... purposes of this algorithm ... those >day 10 with clinical ... Diagnosis #Peds #Pediatrics ... Disease #Incomplete #Algorithm
Liver Function Tests (LFTs) - Normal Values and Interpretation

Alanine aminotransferase (ALT/SGPT) - Liver, cardiac & skeletal
Tests (LFTs) - Normal ... Values and Interpretation ... hepatocellular injury, genetic ... prothrombin time across labs ... LFTs #Laboratory #Values
Causes of Growth Restriction - Small for Gestational Age - Differential Diagnosis Algorithm
Maternal
 • Chronic Maternal
Differential Diagnosis Algorithm ... Chromosomal Anomaly • Genetic ... Placenta Previa • Abnormal ... Differential #Diagnosis #Algorithm ... Causes #Obstetrics #Pediatrics
Krabbe Disease 

Check out this interesting case of Krabbe disease, a rare genetic leukodystrophy. Diagnosis was
disease, a rare genetic ... guide confirmatory lab ... treatment with clinical ... • Symmetric abnormal ... Diagnosis #MRI #Clinical
Gynecomastia - Differential Diagnosis a
nd Workup Algorithm
Gynecomastia is common in clinical practice, affecting ~50% of males
Diagnosis a nd Workup Algorithm ... Gynecomastia is common in clinical ... affecting ~50% of males ... Labs: TSH, Cr, LFTs ... Diagnosis #Workup #Algorithm
Fever of Unknown Origin (FUO) - Further Workup

 • CNS symptoms? Get an LP and imaging
Returning Traveler’ algorithm ... node biopsy • Clinical ... artery biopsy • Lab ... values supporting