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Evaluating the impact of modeling choices on the performance of integrated genetic and clinical models.
Genet Med
December 2024
Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN; Center for Digital Genomic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN; Department of Psychiatry and Behavioral Sciences, Vanderbilt University Medical Center, Nashville, TN. Electronic address:
Purpose: The value of genetic information for improving the performance of clinical risk prediction models has yielded variable conclusions. Many methodological decisions have the potential to contribute to differential results. We performed multiple modeling experiments integrating clinical and demographic data from electronic health records (EHR) with genetic data to understand which decisions may affect performance.
View Article and Find Full Text PDFImplementation of an Early Referral Programme for Patients With Hand Arthralgia.
J Eval Clin Pract
February 2025
Instituto Mexicano del Seguro Social, IMSS Hospital General de Zona Número 17, Monterrey, Nuevo León, México.
Introduction: Rheumatoid arthritis (RA) is a progressive autoimmune inflammatory disease. According to the European League Against Rheumatism (EULAR), the stages of RA progression include pre-RA, preclinical RA, inflammatory arthralgia, arthralgia with positive antibodies, arthralgia suspected of progressing to RA, undifferentiated arthritis and finally established RA. According to the Community Oriented Program for Control of Rheumatic Diseases (COPCORD), the prevalence of RA in Mexico is 1.
View Article and Find Full Text PDFPediatric Soft Tissue Sarcoma in Limb-Girdle Muscular Dystrophy: Molecular Findings and Clinical Implications.
Am J Case Rep
December 2024
Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.
BACKGROUND Limb-girdle muscular dystrophy recessive 1 (LGMDR1) is an autosomal recessive degenerative muscle disorder characterized by progressive muscular weakness caused by pathogenic variants in the CAPN3 gene. Desmoplastic small round cell tumors (DSRCT) are ultra-rare and aggressive soft tissue sarcomas usually in the abdominal cavity, molecularly characterized by the presence of a EWSR1::WT1 fusion transcript. Mouse models of muscular dystrophy, including LGMDR1, present an increased risk of soft tissue sarcomas.
View Article and Find Full Text PDFPurpose: To examine associations between clinical measures (self-reported and clinician-administered) and subsequent injury rates in the year after concussion return to play (RTP) among adolescent athletes.
Methods: We performed a prospective, longitudinal study of adolescents ages 13-18 years. Each participant was initially assessed within 21 days of concussion and again within 5 days of receiving RTP clearance from their physician.
Swallowing, speech and voice impairments in head and neck cancer patients treated at a multidisciplinary integrated patient unit.
Int J Lang Commun Disord
December 2024
Hearing, Speech & Language Center, Sheba Medical Center, Tel Hashomer, Israel.
Background: Head and neck cancer (HNC) is amongst the 10 most common cancers worldwide and has a major effect on patients' quality of life. Given the complexity of this unique group of patients, a multidisciplinary team approach is preferable. Amongst the debilitating sequels of HNC and/or its treatment, swallowing, speech and voice impairments are prevalent and require the involvement of speech-language pathologists (SLPs).
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