9 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... /Complications: ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Leukostasis vs Tumor Lysis Syndrome
Leukostasis:
 • Pathophysiology: Large, immature blasts and high WBC count cause hyperviscosity
Leukostasis: • Pathophysiology ... priapism • Lab values ... sudden death • Lab values ... TLS #diagnosis #management ... #hematology
Acute Fatty Liver of Pregnancy (AFLP)
Pathophysiology:
 • Defect in fetal free fatty acid metabolism products →
Pregnancy (AFLP) Pathophysiology ... postpartum): • Initial symptoms ... Monitor and Treat Complications ... Liver #Pregnancy #hepatology ... #pathophysiology
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
The 6 C’s of Primary Sclerosing Cholangitis (PSC)
PSC is a chronic, cholestatic, immune-mediated disease characterized by
CHOLANGITIS - Genetic ... Care focuses on symptom ... liver disease management ... Cholangitis #diagnosis #management ... #summary #Hepatology
Nutrition in Cirrhosis: Dos and Don’ts
Screening:
 • Patients at risk for RFH-Nutritional Prioritizing Tool
 • Low
Nutrition in Cirrhosis ... you do for other complications ... #Nutrition #Cirrhosis ... #diet #management ... #hepatology #pathophysiology
Giant cell arteritis (GCA)

Giant cell arteritis (GCA) definition: Most common systemic inflammatory vasculitis in older adults
and ophthalmic complications ... or sed rate): Value ... GCA, but normal values ... Temporal #Signs #Symptoms ... #Diagnosis #Management
Hemophagocytic Lymphohistiocytosis (HLH)

High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
recognition and management ... Familial) HLH: - Genetic ... Common Signs and Symptoms ... Pathophysiology ... #Hematology #HemeOnc
TAFRO

TAFRO syndrome was first described in 2010, standing for:
- Thrombocytopenia
- Anasarca
- Fever
- Reticulin fibrosis
- Organomegaly

TAFRO syndrome
IGG4 - Hepatic cirrhosis ... cell lymphoma Pathophysiology ... and the systemic symptoms ... TAFRO #diagnosis #management ... #rheumatology #