Monomicrobial Rothia spp. Bloodstream Infections in Pediatric Patients and Literature Review.

We examined 51 monomicrobial Rothia spp. blood cultures from 2015 to 2024. Seventy-one percent occurred in cancer/hematopoietic cell transplantation patients, of which 97% were treated as true bloodstream infections and 78% followed recent broad-spectrum antibiotics.

Phenotypic findings associated with variation in elastin.

Variation in the elastin gene (ELN) may contribute to connective tissue disease beyond the known disease associations of supravalvar aortic stenosis and cutis laxa. Exome data from MyCode Community Health Initiative participants were analyzed for ELN rare variants (mean allele frequency <1%, not currently annotated as benign). Participants with variants of interest underwent phenotyping by dual chart review using a standardized abstraction tool.

Epidemiological evidence for a hereditary contribution to myasthenia gravis: a retrospective cohort study of patients from North America.

Objectives: To approximate the rate of familial myasthenia gravis and the coexistence of other autoimmune disorders in the patients and their families.

Design: Retrospective cohort study.

Setting: Clinics across North America.

Recurrent homozygous damaging mutation in , encoding a protein disulfide isomerase, in four families with microlissencephaly.

Background: Protein disulfide isomerase (PDI) proteins are part of the thioredoxin protein superfamily. PDIs are involved in the formation and rearrangement of disulfide bonds between cysteine residues during protein folding in the endoplasmic reticulum and are implicated in stress response pathways.

Methods: Eight children from four consanguineous families residing in distinct geographies within the Middle East and Central Asia were recruited for study.