Publications by authors named "M Yamazaki-Nakashimada"
Background: 22q11 deletion syndrome consists of a variable grouping of phenotypic features and immunological defects secondary to the loss of genetic material located in the 22q11.2 band. The 22q11 deletion spectrum encompasses different syndromes related to the same etiology and with overlapping anomalies, including DiGeorge syndrome, velocardiofacial syndrome, among others.
View Article and Find Full Text PDFBackground: Multisystem inflammatory syndrome (MIS-C) represents a diagnostic challenge because of its overlap with Kawasaki disease, Kawasaki disease shock syndrome, and toxic shock syndrome. Macrophage activation syndrome (MAS) is a frequently fatal complication of various pediatric inflammatory disorders and has been reported in MIS-C. Early diagnosis and prompt initiation by immune modulating therapies are essential for effectively managing MAS.
View Article and Find Full Text PDFArticle Synopsis
- The study aimed to investigate the epidemiology and outcomes of multisystem inflammatory syndrome in children (MIS-C) across 16 Latin American countries from August 2020 to June 2022.
- Out of 1239 children with MIS-C, the majority were previously healthy, with common symptoms including abdominal pain and conjunctival injection, and nearly half required intensive care.
- The overall death rate was 4.88%, notably higher for those not initially diagnosed with MIS-C, emphasizing the need for improved awareness and early detection of the syndrome.
Purpose: Chronic granulomatous disease (CGD) is an inherited immunodeficiency caused by pathogenic variants of genes encoding the enzyme complex NADPH oxidase. In countries where tuberculosis (TB) is endemic and the Bacillus Calmette-Guérin (BCG) vaccine is routinely administered, mycobacteria are major disease-causing pathogens in CGD. However, information on the clinical evolution and treatment of mycobacterial diseases in patients with CGD is limited.
View Article and Find Full Text PDF