22 results
Giant Cell (Temporal) Arteritis: Pathogenesis and investigations
Risk Factors:
 - Unclear environmental triggers (may be viral, not
Cell (Temporal) Arteritis ... not proven) - Genetic ... yrs old; F>M Signs ... Anemia - Giant cells ... #Pathophysiology
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
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings

 - Infectious Agents - 50% have
predisposition - Various genetic ... various inflammatory cells ... Arthralgia's (common), arthritis ... HenochScholeinPurpura #Pathophysiology ... #Diagnosis #Signs
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
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
Vasculitis - Differential Diagnosis Framework

When to Consider Vasculitis:
• Purpura, ischemic skin lesions
• Mononeuritis multiplex
• Hematuria, proteinuria,
purpura: Strong sign ... GCA (Giant Cell Arteritis ... Multinucleated giant cells ... mucositis • Rash, arthritis ... and often causes arthritis
VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) Syndrome
Clinical Syndrome:
 • Common Clinical Features: alveolitis, ear and
recurrent fevers, vasculitis ... • giant cell arteritis ... (4%) Genetic Features ... hematopoietic stem cells ... blood myeloid cells
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
Rheumatoid arthritis (RA): Extra-articular manifestations
Skin: 
 • Inflammation of skin (esp. over areas of stress) forms
Rheumatoid arthritis ... blood vessels (vasculitis ... RheumatoidArthritis #RA #pathophysiology ... #signs #symptoms