13 results
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
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
Maculopapular - Diagnostic Algorithm
Pathophysiology:
- Catch-all term with a wide range of potential pathophysiologic mechanisms and causative
Maculopapular - Diagnostic Algorithm ... Pathophysiology ... Ill-appearing, vital sign ... #Diagnosis #Dermatology ... Color #Targetoid #Algorithm
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
Erythroderma - Diagnostic Algorithm. Pathophysiology: 1) Extensive cutaneous capillary dilation, results in widespread exfoliation of the
Erythroderma - Diagnostic Algorithm ... Pathophysiology: ... Skin-homing T-cells ... #Diagnosis #Dermatology ... Erythroderma #Nikolsky #Algorithm
Eosinophil Disorders Testing Algorithm
INDICATIONS FOR TESTING:
 • Peripheral blood eosinophilia/hypereosinophilia uncovered incidentally during medical evaluation or
Disorders Testing Algorithm ... Eosinophilia, 500-1,500 cells ... organ-specific signs ... Eosinophil #Disorders #Algorithm ... Differential #diagnosis #hematology
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
Lymphomas and Lymphoproliferative Disorders - Differential Diagnosis Algorithm
Hodgkin Lymphoma ~40% - Characteristic For Reed-Sternberg (RS) Cells
Differential Diagnosis Algorithm ... (LP) tumour B cells ... Classification #pathophysiology ... #Hematology #Diagnosis ... #differential #algorithm
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