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Evolution of sleep disordered breathing in infants with achondroplasia.
Sleep Breath
January 2025
McGovern Medical School University of Texas Health, Houston, TX, USA.
Purpose: Children with achondroplasia (ACH) are at risk for sudden death in infancy due to sleep disordered breathing (SDB) and foramen magnum stenosis (FMS). Sleep studies and neuroimaging are performed in infants with ACH, but interpretation of infant studies is challenging. We sought to describe baseline data on polysomnography (PSG) indices in infants with achondroplasia as well as effects of age and surgery on these parameters.
View Article and Find Full Text PDFThe ACTION VAD Registry: A Collective Five-Year Experience.
J Heart Lung Transplant
January 2025
Department of Pediatrics, Medical College of Wisconsin and Herma Heart Institute, Children's Wisconsin; Milwaukee, WI.
Background: The Advanced Cardiac Therapies Improving Outcomes Network (ACTION) began in 2018 as a collaborative learning health system committed to improving outcomes in pediatric heart failure, including children and adults with congenital heart disease, supported with ventricular assist devices (VADs). This report describes patient and device characteristics, and outcomes through 1-year post-implant.
Methods: The ACTION VAD registry report was created from data submitted to the ACTION learning network from April 2018-June 2023.
Background: LIGHT (oLaparib In HRD-Grouped Tumor types; NCT02983799) prospectively evaluated olaparib treatment in patients with platinum-sensitive relapsed ovarian cancer (PSROC) assigned to cohorts by known BRCA mutation (BRCAm) and homologous recombination deficiency (HRD) status: germline BRCAm (gBRCAm), somatic BRCAm (sBRCAm), HRD-positive non-BRCAm, and HRD-negative. At the primary analysis, olaparib treatment demonstrated activity across all cohorts, with greatest efficacy in terms of objective response rate and progression-free survival observed in the g/sBRCAm cohorts. The authors report final overall survival (OS).
View Article and Find Full Text PDFApproach to the Patient with Achondroplasia - New Considerations for Diagnosis, Management and Treatment.
J Clin Endocrinol Metab
January 2025
Division of Orthogenetics, Department of Pediatrics, Nemours Children's Hospital, Delaware, 1600 Rockland Road, Wilmington, DE, 19803, USA.
Achondroplasia is the most common disproportionate short-stature skeletal dysplasia. Features associated with achondroplasia are rhizomelia, macrocephaly, midface hypoplasia, and typical cognition. Potential medical complications include foramen magnum stenosis, hydrocephalus, middle ear dysfunction, obstructive and central sleep apnea, spinal stenosis and genu varum.
View Article and Find Full Text PDFA new screener predicts Toddlers' language development from age 2-3: The QUILS:TOD.
Infant Behav Dev
January 2025
University of Delaware, Newark, DE, USA.
Language interventions may yield greater benefits for younger children than their older counterparts, making it critical to evaluate children's language skills as early as possible. Yet, assessing young children's language presents many challenges, such as limited attention spans, low expressive language, and hesitancy to speak with an unfamiliar examiner. To address these challenges, the Quick Interactive Language Screener for Toddlers (QUILS:TOD; for children 24- to 36-months of age) was developed as a quick, tablet-based language screener capable of assessing children's vocabulary, syntax, and word learning skills.
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