6 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... sleep apnea, cor pulmonale ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
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
TRALI vs TACO - Transfusion Reactions
TRALI:
 • Epidemiology: 0.1% of transfused patientsl
 • Risk factors: Critical
blood donor • Pathophysiology ... ARDS to explain symptoms ... transfusion • Pathophysiology ... , and CXR with pulmonary ... Transfusion #Reactions #hematology
Differentiation Syndrome in APML
Epidemiology:
 • Incidence: common in APL (2-48% depending on the study)
 • Triggers:
ATRA treatment Pathophysiology ... Imaging: CXR- pulmonary ... Diagnosis: >3 symptoms ... diagnosis #management #hematology
Childhood Immunization Schedule: Why we immunize
 • Diphtheria Toxin -> URT inflammation causes pseudomembrane with hardened
invade URT & via hematologic ... hemorrhagic rash; symptoms ... causes CNS and hematologic ... Immunization #peds #pediatrics ... #pathophysiology
Hemophagocytic Lymphohistiocytosis (HLH)

High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
or triggers) is crucial ... Familial) HLH: - Genetic ... Common Signs and Symptoms ... Pathophysiology ... Diagnosis #Management #Hematology