20 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
presentations in acute ... MetabolicEmergency #Genetics ... #Pathophysiology ... Diagnosis #Algorithm #Differential ... #Neonatology #Peds
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
for diagnosing acute ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Causes of Developmental ... Delay - Differential ... Syndromic • Genetic ... Mechanical (e.g. dental ... #Peds #Pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Uncommon Causes of Noncardiogenic Pulmonary Edema (NCPE) - Differential Diagnosis Framework

High Altitude Pulmonary Edema:
 • Accumulation
Edema (NCPE) - Differential ... of acute respiratory ... • Signs/Symptoms ... Embolism: • Acute ... #differential #
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
Alzheimer - 1st cause ... body dementia - Visual ... (parkinsonian signs ... hyperorality, - 25% genetic ... MNCD #Dementia #Differential
Cullen's sign. Lipase 1,781. Bruising in the skin around the umbilicus. This sign is named after
associated with acute ... conditions that cause ... Pathophysiology: ... pregnancy, or other causes ... is a visual cue
Leukostasis vs Tumor Lysis Syndrome
Leukostasis:
 • Pathophysiology: Large, immature blasts and high WBC count cause hyperviscosity
Leukostasis: • Pathophysiology ... high WBC count cause ... dizziness, tinnitus, visual ... - ACS, AKI, acute ... WBC >100k, + lab signs
Acute Closed Angle Glaucoma: Pathogenesis and Clinical Findings
OPHTHALMIC EMERGENCY: Early detection is essential, but most patients
Acute Closed Angle ... • Significant cause ... most frequent cause ... damage & blindness Signs ... ClosedAngle #Glaucoma #pathophysiology
Thiamine Deficiency - Differential Diagnosis Framework and Clinical Manifestations

Causes of Thiamine Deficiency:
 • Poor intake:
	- Diets
Thiamine Deficiency - Differential ... Manifestations Causes ... neuropathy of the distal ... Manifestations #Differential ... beriberi #nutrition #pathophysiology