8 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
SAPHO Syndrome Summary

What?
SAPHO syndrome is a rare chronic inflammatory disorder of bone, joint, and skin characterized
Etiology unknown: Autoinflammatory ... • A clinical diagnosis ... other etiology • Laboratory ... , breast bone, pelvis ... #Rheumatology #diagnosis
Some of the techniques used for Antenatal Diagnosis

Amniocentesis 
 - Chromosome/micro-array and DNA analysis 
 -
for Antenatal Diagnosis ... genetic analysis of cells ... surgery, e.g. laser photo-coagulation ... transfusion syndrome ... #Laboratory #Obstetrics
Rapid, increasing signs of extrapyramidal symptoms (EPS) is an important key feature of NMS. EPS, associated
A laboratory profile ... and white blood cells ... Laboratory findings ... #Diagnosis #Serotonin ... #Syndrome #NMS
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
Causes of Lactate Elevation, Lactic Acidosis - Differential Diagnosis

The most common causes of hyperlactatemia are usually:
- Differential Diagnosis ... e.g., uptake by cells ... - assess other laboratory ... or diagnostic tests ... - Compartment syndrome
PFAPA Syndrome - Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis

EPIDEMIOLOGY:
PFAPA is the most common syndrome entailing
believed to be an autoinflammatory ... The diagnosis of ... Familial cold autoinflammatory ... , - Muckle–Wells ... #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