6 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms ... /Complications: ... #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 ... : • Pathophysiology ... sudden death • Lab values ... diagnosis #management #hematology
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 ... endocrinology #peds #pediatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
mutations - Down syndrome ... / Complications ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Bulimia Nervosa: Complications
GASTROINTESTINAL
 • Dehydration & inability to digest food -> Constipation
 • Recurrent vomiting exposes
Bulimia Nervosa: Complications ... and ulcers • Vagus ... • Boerhaave syndrome ... #pathophysiology ... diagnosis #signs #symptoms
TAFRO

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

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