Monogenic diseases of immune dysregulation should be considered in the evaluation of children presenting with recurrent neutrophilic dermatoses in association with systemic signs of inflammation, autoimmune disease, hematologic abnormalities, and opportunistic or recurrent infections. We report the case of a 2-year-old boy presenting with a neutrophilic dermatosis, found to have a novel likely pathogenic germline variant of the IKAROS Family Zinc Finger 1 (IKZF1) gene; the mutation likely results in a loss of function dimerization defective protein based on reports and studies of similar variants. IKZF1 variants could potentially lead to aberrant neutrophil chemotaxis and development of neutrophilic dermatoses.
View Article and Find Full Text PDFBackground: Calcaneal osteotomies correct hindfoot deformities and are often performed using a minimally invasive technique. The aim was to compare the safety of three calcaneal osteotomy techniques (oblique, chevron with apex anterior and chevron with apex posterior).
Methods: Each osteotomy technique was performed on five cadavers (n = 15).
SAGE Open Med Case Rep
April 2022
Epidermolysis bullosa acquisita is a rare autoimmune disease involving cutaneous blistering and scarring associated with collagen VII autoantibodies. Similarly, collagen VII autoantibodies are present in the majority of Crohn's disease patients and approximately a quarter of epidermolysis bullosa acquisita patients have coexisting Crohn's disease. Treatment options for epidermolysis bullosa acquisita are limited and are largely ineffective.
View Article and Find Full Text PDFObjective: This study aimed to determine whether obesity is independently associated with major adverse clinical outcomes and inflammatory and thrombotic markers in critically ill patients with COVID-19.
Methods: The primary outcome was in-hospital mortality in adults with COVID-19 admitted to intensive care units across the US. Secondary outcomes were acute respiratory distress syndrome (ARDS), acute kidney injury requiring renal replacement therapy (AKI-RRT), thrombotic events, and seven blood markers of inflammation and thrombosis.