34 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
patterns seen in Inborn ... 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
pathophysiology of the inborn ... the lab values table ... MetabolicEmergency #Genetics ... Pathophysiology #Diagnosis #Algorithm ... Peds #Pediatrics #Table
Some of the techniques used for Antenatal Diagnosis

Amniocentesis 
 - Chromosome/micro-array and DNA analysis 
 -
Enzyme analysis of inborn ... Preimplantation genetic ... invasive surgery, e.g ... Non-invasive genetic ... Laboratory #Obstetrics #OBGyn
Causes of Growth Discrepancy: Large for Gestational Age - Differential Diagnosis Algorithm
Maternal Factors:
 • Multiparity
 •
Differential Diagnosis Algorithm ... >41 weeks) • Genetic ... disorder (e.g. ... Differential #Diagnosis #Algorithm ... Causes #Obstetrics #OBGyn
Causes of Recurrent Pregnancy Loss - Differential Diagnosis Algorithm
Environmental:
 • Toxin (organic solvents, mercury, lead)
 •
Differential Diagnosis Algorithm ... phase deficiency Genetic ... Differential #Diagnosis #Algorithm ... Causes #Obstetrics #OBGyn
Short Stature - Differential Diagnosis Algorithm
Normal Variant, Normal Puberty Onset (BA = CA)
 • Familial Short
Differential Diagnosis Algorithm ... Dysplasias • (e.g ... Fibrosis, CHF) • Inborn ... • CNS Tumors (e.g ... Differential #Diagnosis #Algorithm
Causes of Pelvic Organ Prolapse - Differential Diagnosis Algorithm
Herniation of one or more pelvic organs
Risk factors:
Differential Diagnosis Algorithm ... Risk factors: genetics ... Differential #Diagnosis #Algorithm ... Causes #Gynecology #OBGyn
Primary Amenorrhea Differential Diagnosis Framework

Workup:
 • β-HCG, TSH and PRL
 • Breast Tanner Staging
 • FSH,
Workup: • β-HCG ... Diagnosis #pediatrics #obgyn ... #gynecology #algorithm
Abnormal Lipid Profiles - Differential Diagnosis Algorithm

Increased Cholesterol and Triglycerides 
 - Genetic Causes
Differential Diagnosis Algorithm ... Triglycerides - Genetic ... Increased LDL Genetic ... Increased Estrogen (e.g ... Differential #Diagnosis #Algorithm
Etiologies of Hypernatremia - Differential Diagnosis
GI losses / Insensible losses
Sodium Overload
Transcellular Movement of Water
Central Diabetes Insipidus
- Various rare genetic ... - Medications (e.g ... renal diseases (e.g ... - Various rare genetic ... Differential #Diagnosis #Table