21 results
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 #Differential ... #Table #IEM #NICU
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Metabolism A table ... from UpToDate and Pediatrics ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... Neonatology #Peds #Pediatrics ... #Table #NICU #Genetics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Risk factor for Late ... chromosome 21) Signs ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... , vomiting • Late ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Pediatric SVT - Management Algorithm
Identify SVT:
 • HR not variable
 • Abrupt rate changes
 • Infants:
Pediatric SVT - ... variable • Abrupt rate ... Monitors, Pads AP Stable ... Signs of shock or ... Algorithm #peds #Pediatric
CRIES is a 10-point scale, using a physiologic basis similar to APGAR: Crying; Requires increased oxygen
Increased vital signs ... 1995) CRIES (Table ... been validated to date ... Diagnosis #Peds #Pediatrics
Features That Differentiate Acute Pericarditis from Myocardial Ischemia or Infarction and Pulmonary Embolism

In contrast to the
Features That Differentiate ... pericarditis, making it difficult ... to differentiate ... Pericarditis #Symptoms #Signs ... Presentation #comparison #Table
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
roughly double this rate ... Signs of immunodeficiency ... Genetic Predisposition ... humoral immunity Signs ... Agammaglobulinemia #XLinked #pathophysiology
Lung Abscess - Diagnosis and Management Summary

Lung Abscess Etiology:
 • Necrosis of lung parenchyma by a
Lung Abscess Pathophysiology ... weight loss • Late ... CXR upright or lat ... Lung Abscess Differential ... Abscess #pulmonary #differential