8 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Signs/Symptoms ... fractures • Short ... • Obesity -> Type ... pathophysiology #peds #pediatrics
Hemophagocytic Lymphohistiocytosis (HLH)
Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
: Overwhelming clinical ... syndrome associated ... Diagnosis: HLH signs ... Lymphohistiocytosis #diagnosis #management ... #treatment #hematology
Common Variable Immunodeficiency (CVID)

What?
CVID: Immunodeficiency disorder with hypogammaglobulinemia -> increased infection risk secondary to impaired B-cell
to 8 years Clinical ... Granulomatous lymphocytic interstitial ... : • Nephrotic syndrome ... (Epstein-Barr syndrome ... hypogammaglobulinemia #immunology #hematology
Sjogren's Syndrome Overview

Epidemiology:
• F > M: 9:1
• 5-6th Decades (can be any age)

Autoimmune exocrinopathy multisystemic disease
Sjogren's Syndrome ... IV RTA, TYPE I ... salivary ducts Clinical ... #Rheumatology # ... Diagnosis #Management
SAPHO Syndrome Summary

What?
SAPHO syndrome is a rare chronic inflammatory disorder of bone, joint, and skin characterized
Rheumatic pain Clinical ... Diagnosis: • A clinical ... #Rheumatology # ... diagnosis #management ... #Dermatology
Hypereosinophilia Syndrome (HES) - Diagnosis and Management
Definition: An absolute eosinophil count (AEC) greater than 1500 and
Hypereosinophilia Syndrome ... Diagnosis and Management ... than 1500 and clinical ... disorders HES Types ... eosinophilia #diagnosis #hematology
Anti-NXP-2 Dermatomyositis

What?
DM with generalized subcutaneous edema
Pts have more myalgias, more severe weakness, and an increased prevalence
, and back and shoulders ... auricular papules Clinical ... Dermatomyositis #diagnosis #management ... #rheumatology # ... dermatology
Relapsing Polychondritis

What is it?
Recurrent inflammation of the cartilage in the body (Autoimmune disorder)

Who?
• Most frequently: 40
the most common clinical ... Diagnosis: • Clinical ... Antibodies to type ... Polychondritis #rheumatology ... #diagnosis #management