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

A table of lab values compiled from UpToDate and
metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... InbornErrors #Metabolism #Neonatology ... #Peds #Pediatrics ... #Table #NICU #Genetics
Rapid Assessment of the Neonate With Sonography (RANS) Scan

Recommended algorithm for RANS scan. 
* Abnormal vital
Recommended algorithm ... Abnormal vital signs ... Sonography #Neonate #Peds ... #Pediatrics #Neonatology
gestational diabetes algorithm
#Infant #Diabetic #Mother #Pediatrics #Neonatology #IDM #NICU #OBGYN #Diagnosis #Pathophysiology #Maternal #Complications #Peds #Newborn
gestational diabetes algorithm ... Mother #Pediatrics #Neonatology ... OBGYN #Diagnosis #Pathophysiology ... Complications #Peds
Giant Cell (Temporal) Arteritis: Pathogenesis and investigations
Risk Factors:
 - Unclear environmental triggers (may be viral, not
not proven) - Genetic ... yrs old; F>M Signs ... Anemia - Giant cells ... Temporal #Arteritis #Pathophysiology ... #Diagnosis #Signs
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings

 - Infectious Agents - 50% have
IgA Vasculitis – ... predisposition - Various genetic ... various inflammatory cells ... HenochScholeinPurpura #Pathophysiology ... #Diagnosis #Signs
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
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
Signs of immunodeficiency ... Genetic Predisposition ... from precursor cells ... humoral immunity Signs ... Agammaglobulinemia #XLinked #pathophysiology
Polyarteritis Nodosa (PAN): Pathogenesis and Clinical Findings

Medical Comorbidities Malignancies (most commonly hairy-cell leukemia)
Immunogenetic Predisposition: patient is
vascular endothelial cells ... PolyarteritisNodosa #Pathophysiology ... #Diagnosis #Signs ... #Symptoms #Vasculitis
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics