33 results
Harlequin Ichthyosis

Rare genetic disorder that results in thickened skin over nearly the entire surface of the
Ichthyosis Rare genetic ... Harlequin #Ichthyosis #clinical ... #physicalexam #pediatrics ... #genetics #dermatology
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... > Neonatal and infantile ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... cardiology #peds #pediatrics ... #treatment
Treatments for Sickle Cell disease

#Sicklecell #sicklecelldisease #sicklecellanemia, #sicklecells #sickle #hematology #anemia #clinical #pediatrics #FOAM #FOAMed
Treatments for Sickle ... sicklecells #sickle #hematology ... #anemia #clinical ... #pediatrics #FOAM
Acute-on-Chronic Liver Failure (ACLF) Clinical Guidelines

ACLF = possibly reversible condition in those with CLD (± cirrhosis)
Acute-on-Chronic Liver ... Failure (ACLF) Clinical ... months without treatment ... disease, liver ... Failure #Cirrhosis #Hepatology
Alzheimer's Disease - Summary
 • Epidemiology
 • Pathophysiology
 • Risk Factors
 • Presentation
 • Diagnosis
 •
Epidemiology • Pathophysiology ... Diagnosis • Treatment ... • Clinical Course ... diagnosis #management #geriatrics
Acute Fatty Liver of Pregnancy (AFLP)
Pathophysiology:
 • Defect in fetal free fatty acid metabolism products →
Acute Fatty Liver ... Pregnancy (AFLP) Pathophysiology ... Maternal Support - Critical ... #Pregnancy #hepatology ... diagnosis #management #pathophysiology
Hemophagocytic Lymphohistiocytosis (HLH)
Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
: Overwhelming clinical ... an underlying genetic ... Diagnosis via genetic ... lymph node, or liver ... #hematology
TRALI vs TACO - Transfusion Reactions
TRALI:
 • Epidemiology: 0.1% of transfused patientsl
 • Risk factors: Critical
Risk factors: Critical ... blood donor • Pathophysiology ... : 33% • Treatment ... : No • Treatment ... Transfusion #Reactions #hematology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics