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Objective: Scleroderma-associated autoantibodies (SSc-Abs) are specific in participants (pts) with systemic sclerosis and are associated with organ involvement. Our objective was to assess the influence of baseline SSc-Abs on the trajectories of the clinical outcome assessments (COAs) in a phase III randomized controlled trial.
Methods: We used data on both the groups who received placebo (Pbo) and tocilizumab from the focuSSced trial.
Paediatricians' Perspectives Surrounding Identification and Management of Early Childhood Disorders in the United States.
Child Care Health Dev
January 2025
Medical College of Georgia, Augusta University, Augusta, Georgia, USA.
Background: Since 2001, the American Academy of Pediatrics has released and twice revised guidelines tasking paediatricians with screening children for developmental disorders, but diagnoses are often delayed. Paediatricians in the United States are also responsible for referring patients with identified concerns for services and for managing their long-term care.
Objectives: This review aims to chronologically synthesize available literature about paediatricians' perspectives surrounding their roles in identifying and managing early childhood disorders and to identify how future interventions can best address these perspectives.
The PRO-AGE Tool and Its Association With Post Discharge Outcomes in Older Adults Admitted From the Emergency Department.
J Am Geriatr Soc
January 2025
Geriatric Research, Education and Clinical Center, James J. Peters VA Medical Center, Bronx, New York, USA.
Background: Existing risk scores assessing geriatric vulnerability in the emergency department (ED) have shown limited predictive power, especially in diverse populations. We investigated the relationship of a quick and easy-to-administer geriatric vulnerability scoring system with functional decline and mortality in older patients admitted to multiple hospitals through the ED in the United States (US) and Brazil (BR).
Method: Federated, international, multicenter observational study of hospitalized ED patients aged ≥ 65 from US and BR.
Identification of a cryptic unbalanced translocation Der(22)t(12;22)(q24.33;q13.33) in a large Chinese family with Phelan-McDermid syndrome by nanopore sequencing.
Sci Rep
January 2025
Reproductive Medicine Center, Jiangxi Maternal and Child Health Hospital, 318 Bayi Avenue, Nanchang, 330006, China.
To explore the genetic cause of a four-generation severe intellectual disability in a Chinese family using nanopore sequencing and to provide genetic counseling and reproductive guidance for family members. Multiple genetic analyses of the proband and family members were performed, including chromosome karyotype analysis, whole exome sequencing, nanopore sequencing, PCR amplification, and Sanger sequencing. The results of G-binding karyotyping, CGG repeats for FMR1, GGC repeats for NOTCH2NCL, and trio-whole-exome sequencing were negative for the proband and his parents.
View Article and Find Full Text PDFEvaluation of anti-citrullinated and anti-carbamylated antibodies in mexicans with rheumatoid arthritis and at-risk individuals.
Rev Invest Clin
January 2025
Unidad de Investigación Biomédica de Zacatecas-IMSS, Zacatecas, Zac., Mexico.
Background: Rheumatoid arthritis (RA) diagnosis is a challenge in the initial phases of the disease when clinical symptoms are only starting to develop. Early diagnosis and treatment can promote long-term remission, reduce disability, and improve cardiovascular outcomes. Autoantibodies can help in the diagnosis and identification of RA patients in the early phases of the disease, but scarce information has been reported for the Mexican population.
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