5 results
VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) Syndrome
Clinical Syndrome:
 • Common Clinical Features: alveolitis, ear and
enzyme, X-linked, Autoinflammatory ... hematopoietic stem cells ... blood myeloid cells ... NEJM Review: https ... #E1 #Xlinked #Autoinflammatory
Some of the techniques used for Antenatal Diagnosis

Amniocentesis 
 - Chromosome/micro-array and DNA analysis 
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techniques used for Antenatal ... genetic analysis of cells ... surgery, e.g. laser photo-coagulation ... transfusion syndrome ... rhesus status #Antenatal
Schistocytes - The arrows point to schistocytes which are fragmented red blood cells. Also called schizocytes,
schizocytes, these cells ... shapes of red cells ... In the right photo ... hemolytic- uremic syndromes ... Clinical #Path #BloodSmear
SAPHO Syndrome Summary

What?
SAPHO syndrome is a rare chronic inflammatory disorder of bone, joint, and skin characterized
Etiology unknown: Autoinflammatory ... lower-extremity joints Diagnosis ... • A clinical diagnosis ... , breast bone, pelvis ... #Rheumatology #diagnosis
Pyoderma Gangrenosum (PG)
50 M Crohn’s dz had a small pustule on the ankle 4 mo ago
Diagnosis? ... considered an autoinflammatory ... neutrophils & T-cells ... #PG #clinical #photo