16 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
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 ... Peds #Pediatrics #Table
Causes of Hypomagnesemia - Differential Diagnosis Algorithm
GI LOSS - FeMg < 2-2.5% or 24h Urine Mg
Causes of Hypomagnesemia ... Differential Diagnosis Algorithm ... other EGFR ab • Genetics ... Magnesium #Low #Causes ... Differential #Diagnosis #Algorithm
Causes of Pelvic Organ Prolapse - Differential Diagnosis Algorithm
Herniation of one or more pelvic organs
Risk factors:
Causes of Pelvic ... Differential Diagnosis Algorithm ... Risk factors: genetics ... Differential #Diagnosis #Algorithm ... #Causes #Gynecology
Etiologies of Hypoaldosteronism

Hyporeninemic Hypoaldosteronism (Low Renin, Low Aldosterone)
 - Diabetic Nephropathy 
 - NSAIDs
Non-Hyporeninemic Hypoaldosteronism (Normal
insufficiency - Critical ... illness - Genetic ... Sulfamethoxazole - Genetic ... Aldosterone #Comparison #Table ... #Causes
Hypomagnesemia - Etiologies by Mechanism

Decreased GI Uptake 
 - Poor dietary intake (particularly common in alcoholics)
syndrome - Genetic ... Low #Magnesium #Table ... #Classification ... #Causes #Workup
Refractory Helicobacter Pylori Infection

Causes:
 • Antibiotic resistance (i.e. prior antibiotic exposure to levofloxacin)
 • Non-adherence (i.e.
Pylori Infection Causes ... suppression) • Host genetics ... CYP2C19) • Non-genetics ... diagnosis #management #algorithm
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... enzyme 21-OHase causes ... pathophysiology #genetics
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
workup 1) Clinical ... Alzheimer - 1st cause ... hyperorality, - 25% genetic ... Dementia - 2nd cause ... Differential #Subtypes #Classification
Nail Pathologies - Findings in or Near Nails

Paronychia 

A superficial infection of the proximal and lateral
the Fingers Clinically ... in innervation, genetics ... Local causes include ... Systemic causes ... Pathology #Diagnosis #Clinical