9 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... delayed puberty -> Infertility ... • Decr Bone mineral ... 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
SAPHO Syndrome Summary

What?
SAPHO syndrome is a rare chronic inflammatory disorder of bone, joint, and skin characterized
Rheumatic pain Clinical ... : • A clinical ... diagnosis • Rule ... #Rheumatology #diagnosis ... #management #Dermatology
Aplastic Anemia - Overview

Who?
• M = F
• 3 peaks:	1) Childhood	2) 15-25 years	3) >60 years

What?
• Aplastic anemia
Constitutional Syndromes ... Aplastic Anemia Clinical ... Constitutional Syndromes ... Anemia #oncology #hematology ... #diagnosis #management
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
PRES) Overview Clinico-Radiological ... brain PRES Clinical ... PRES-Associated Clinical ... Seizures: Treat with AEDs ... #diagnosis #management
Hemophagocytic Lymphohistiocytosis (HLH)
Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
: Overwhelming clinical ... syndrome associated ... Hemophagocytosis in bone ... #management #treatment ... #hematology
Newborn Infant - Routine Examination

Birthweight, gestational age and birthweight percentile are noted.
General observation Of the baby's
When the diagnosis ... Muscle tone is assessed ... Newborn #Infant #PhysicalExam ... #Examination #Peds ... #Pediatrics #Diagnosis
Macrophage Activation Syndrome (MAS)
Classified among the secondary or acquired forms of haemophagocytic lymphohistiocytosis (sHLH)

What?
A subset of
Macrophage Activation Syndrome ... Clinical Presentation ... Fever is the main clinical ... #Diagnosis #Management ... #Hematology #Rheumatology
Helpful Clinical Features in Evaluating Bleeding Disorders
Age of onset
 • Neonate - in 20% of haemophilias,
Helpful Clinical ... Marfan syndrome, ... Disorders #History #peds ... #pediatrics #diagnosis ... #hematology #primarycare