3 results
VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) Syndrome
Clinical Syndrome:
 • Common Clinical Features: alveolitis, ear and
enzyme, X-linked, Autoinflammatory ... blood myeloid cells ... NEJM Review: https ... #E1 #Xlinked #Autoinflammatory ... #Somatic #rheumatology
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
SAPHO Syndrome Summary

What?
SAPHO syndrome is a rare chronic inflammatory disorder of bone, joint, and skin characterized
Etiology unknown: Autoinflammatory ... • A clinical diagnosis ... , breast bone, pelvis ... #Rheumatology # ... diagnosis #management