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

A table of lab values compiled from UpToDate and
metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics
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
Lupus (SLE): Mucocutaneous Manifestations

 • Langerhan cells and keratinocytes release cytokines -> localized inflammatory response ->
• Langerhan cells ... removal of these cells ... Livedo Reticularis, Vasculitis ... Manifestations #pathophysiology ... #diagnosis #signs
Transverse Myelitis Overview

Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
monophasic Pathophysiology ... • Bilateral signs ... Pleocytosis > 100 cells ... - Sjogren - Vasculitis