13 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Metabolism A table ... See IEM schema for ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #NICU #Genetics ... #IEM #Laboratory
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
the lab values table ... MetabolicEmergency #Genetics ... #Diagnosis #Algorithm ... Peds #Pediatrics #Table ... #IEM #NICU #InbornErrors
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
Hypomagnesemia - Etiologies by Mechanism

Decreased GI Uptake 
 - Poor dietary intake (particularly common in alcoholics)
syndrome - Genetic ... Low #Magnesium #Table ... #Classification ... #Causes #Workup
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology
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
Hypersensitivity Types and Their Mechanisms
Type I - lgE - Soluble antigen
 - Allergen-specific lgE antibodies bind
Type II - IgG or IgM ... Ill - IgG and IgM ... Hypersensitivity #Types #Classification ... #Pathophysiology ... Diagnosis #Reactions #Table
Summary table of types of hypersensitivity reactions. 
Type 1
 - Mediators: lgE
 - Antigen Form: Soluble
Summary table of ... Allergen-specific lgE causes ... Mediators: IgG/ IgM ... types #allergy #table ... #classification
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
Genetic Predisposition ... to produce all classes ... IgA, IgG, and IgM ... Agammaglobulinemia #XLinked #pathophysiology