12 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
Abnormal Lipid Profiles - Differential Diagnosis Algorithm

Increased Cholesterol and Triglycerides 
 - Genetic Causes
Lipid Profiles - Differential ... Diagnosis Algorithm ... Increased Estrogen (e.g ... LipidProfiles #Differential ... #Diagnosis #Algorithm
Etiologies of Hypernatremia - Differential Diagnosis
GI losses / Insensible losses
Sodium Overload
Transcellular Movement of Water
Central Diabetes Insipidus
Hypernatremia - Differential ... - Various rare genetic ... - Various rare genetic ... #Diagnosis #Table ... #Causes
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Causes of Developmental ... Delay - Differential ... Diagnosis Algorithm ... Syndromic • Genetic ... #Causes #Peds #
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
deficiency, ... laboratory ... Alzheimer - 1st cause ... hyperorality, - 25% genetic ... component - Frontal ... MNCD #Dementia #Differential
Causes of Growth Discrepancy: Large for Gestational Age - Differential Diagnosis Algorithm
Maternal Factors:
 • Multiparity
 •
Causes of Growth ... Gestational Age - Differential ... Diagnosis Algorithm ... >41 weeks) • Genetic ... #Causes #Obstetrics
Pragmatic diagnostic algorithm for hypokalemia. 
***Typical presentations: 
 • Vomiting: urine Na/Cl > 1.6, low urine
Pragmatic diagnostic algorithm ... confirmed via genetic ... ; interpretation ... dependent upon local laboratory ... hypokalemia #diagnosis #differential
Peripartum Cardiomyopathy - Summary
1. Definition
 • Towards the end of pregnancy to 5 months postpartum
exclude other causes ... Differential Diagnosis ... cardiomyopathy (e.g ... Genetic predisposition ... during Delivery • Stable
Causes of Male Infertility - Differential Diagnosis Algorithm
Sperm Transport:
 • Vasectomy
 • Cystic fibrosis gene mutation
Causes of Male Infertility ... - Differential ... Diagnosis Algorithm ... High FSH/LH: • Genetic ... #Causes #PrimaryCare
It is important to recognize Acute Decompensated Heart Failure (ADHF) as more than just simply a
ECG is vital while ... the determined cause ... #diagnosis #differential ... #algorithm #management ... cardiology #treatment #table