6 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Signs/Symptoms ... /Complications: ... Infertility • Decr Bone ... #genetics #pathophysiology ... #peds #pediatrics
Leukemias Overview: ALL, CML, AML, APML, CLL

Acute leukemias > 20% blasts in the peripheral blood smear
rapid onset of symptoms ... develop leukostasis syndrome ... • Tumor lysis syndrome ... Transformation: • Complication ... Leukemia #Hematology #Oncology
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
Chronic Lymphocytic Leukemia - Summary

Cancer affecting lymphocytes/Mature B cell neoplasm
 • Lymphocytes accumulate in large numbers
with no early symptoms ... Warm AIHA • Bone ... • Richter’s Syndrome ... leukemia • Sezary syndrome ... diagnosis #workup #oncology
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
Encephalopathy Syndrome ... Transplantation including bone ... Etiology: • Pathophysiology ... Neurological symptoms ... Seizures: Treat with AEDs
Bulimia Nervosa: Complications
GASTROINTESTINAL
 • Dehydration & inability to digest food -> Constipation
 • Recurrent vomiting exposes
Bulimia Nervosa: Complications ... • Boerhaave syndrome ... hormone levels cause bones ... #pathophysiology ... diagnosis #signs #symptoms