28 results
Inherited Non-hemolytic Disorders of Hyperbilirubinemia 

== Disorders of Conjugation ==
Gilbert Syndrome:
 • 5-10% of the population
as jaundice on clinical ... examination; nonspecific symptoms ... Newborn: associated ... Congenital #bilirubin #hepatology ... #diagnosis #gastroenterology
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Signs/Symptoms ... Infertility • Decr Bone ... pathophysiology #peds ... #pediatrics
Staphylococcal Scalded Skin Syndrome (SSSS)

A 5-year-old girl presents to the ED with a rash that started
respiratory infection one ... Scalded #Skin #Syndrome ... #SSSS #Clinical ... #Photo #Peds #Pediatrics ... #Dermatology
Osteosarcoma 
Most common primary malignant bone tumor in children 
Most Common Sites of Involvement:
1. Distal femur
proximal femur Clinical ... injury • Systemic symptoms ... #Osteosarcoma #Diagnosis ... Features #Oncology #Peds ... #Pediatrics #BonyTumor
Clinical Classification of Pulmonary Hypertension

1. Pulmonary arterial hypertension from pulmonary vasculopathy
Idiopathic pulmonary arterial hypertension
Heritable gene mutations
Clinical Classification ... mutations - BMPR2 (bone ... hypertension of the newborn ... multifactorial mechanisms Hematologic ... Classification #Diagnosis
SAPHO Syndrome Summary

What?
SAPHO syndrome is a rare chronic inflammatory disorder of bone, joint, and skin characterized
chronic inflammatory disorder ... Autoinflammatory disorder ... Rheumatic pain Clinical ... : • A clinical ... diagnosis • Rule
Cold Agglutinin Disease

3 Types of Cold Sensitive Antibodies:
  1. Cold Agglutinins (CAD)
  2. Donath-Landsteiner
lymphoproliferative disorder ... Cold Agglutinin Syndrome ... infection, autoimmune disorder ... Viral Infection Clinical ... hemolytic #anemia #hematology
Myelodysplastic Syndromes (MDS)

What?
Myelodysplastic syndromes are a group of disorders caused by blood cells that are poorly
Myelodysplastic Syndromes ... are a group of disorders ... age 70 years Symptoms ... Neutropenia • Platelet Disorders ... #diagnosis #hematology
Sweet Syndrome

Acute febrile neutrophilic dermatosis (Sweets Syndrome) is a skin condition characterized by fever and inflamed
Rare Disorder: ... development of skin symptoms ... , breast CA - Hematologic ... skin lesions by one ... #diagnosis #dermatology
Chronic Lymphocytic Leukemia - Summary

Cancer affecting lymphocytes/Mature B cell neoplasm
 • Lymphocytes accumulate in large numbers
Orange or Hep C Clinical ... with no early symptoms ... lymphoproliferative disorders ... • Richter’s Syndrome ... workup #oncology #hematology