2028 results
Acute Limb Ischemia - Diagnosis and Management
#Diagnosis #Management #Algorithm #Limb #Ischemia #Ischemic #Amputation
Diagnosis #Management #Algorithm ... Ischemia #Ischemic #Amputation
Harlequin Ichthyosis

Rare genetic disorder that results in thickened skin over nearly the entire surface of the
Ichthyosis Rare genetic ... physicalexam #pediatrics #genetics
Metabolism of plasma lipoproteins and related genetic diseases - Familial Hypercholesterolemia
Type I (FAMILIAL HYPERCHYLOMICRONEMIA) 
Type IIA
lipoproteins and related genetic ... #lipoproteins #genetics
Polycythemia vera, Essential thrombocythemia, Primary myelofibrosis Diagnosis Algorithm
 • Polycythemia vera → Blood JAK2 mutation screening
myelofibrosis Diagnosis Algorithm ... vera → Blood JAK2 mutation ... thrombocythemia → Blood mutation ... marrow biopsy with mutation
Causes of Hypercalcemia due to increased Vitamin D levels
 • The BIG 3:
Paraffin-associated granuloma • Genetic ... elasticum, CYP24A1 mutation ... infantile), SLC34A1 mutation
Abnormal Lipid Profiles - Differential Diagnosis Algorithm

Increased Cholesterol and Triglycerides 
 - Genetic Causes
Differential Diagnosis Algorithm ... Triglycerides - Genetic ... Decreased HDL - Genetic ... Increased LDL Genetic ... Differential #Diagnosis #Algorithm
Autosomal Dominant Inheritance
 - Most common mode of Mendelian inheritance 
 - Affected individual carries the
family history (new mutation ... #Inheritance #Genetics
Adrenal Insufficiency - Differential Diagnosis Workup Algorithm
Primary Adrenal Insufficiency:
 • Autoimmune primary adrenal insufficiency
 • Adrenoleukodystrophy,
Diagnosis Workup Algorithm ... Adrenoleukodystrophy, genetic ... Diagnosis #Workup #Algorithm
Algorithm for selection of the young potential living kidney donor candidate. ∗APOL1 genetic testing is recommended
Algorithm for selection ... ∗APOL1 genetic testing ... Criteria #Evaluation #Algorithm
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Table #NICU #Genetics