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The effect of caregiver opinion leaders to increase demand for evidence-based practices for youth anxiety: A cluster randomized controlled trial.
Implement Res Pract
January 2025
Department of Psychology, Temple University, Philadelphia, PA, USA.
Background: Dissemination initiatives have the potential to increase consumer knowledge of and engagement with evidence-based treatments (e.g., cognitive behavioral therapy [CBT]).
View Article and Find Full Text PDFSeminoma Diagnosed by Multicancer Detection Testing: A Case Report.
SAGE Open Med Case Rep
January 2025
Division of General Internal Medicine, Department of Medicine, Mayo Clinic, Rochester, MN, USA.
A 67-year-old male with positive signals for neuroendocrine and head/neck cancer on a commercially available multicancer detection test underwent an extensive negative diagnostic workup at a local hospital. Referred to our medical center for advanced imaging and endoscopic procedures ultimately led to the diagnosis of an early-stage seminoma with eventual orchiectomy. This case highlights challenges in evaluating positive multicancer detection results, emphasizing the need for a broader understanding of how to interpret these testing results to fully evaluate complex cases, as well as the need for protocolized follow-up approaches to a positive multicancer detection test.
View Article and Find Full Text PDFImproving prenatal diagnosis with combined karyotyping, CNV-seq and QF-PCR: a comprehensive analysis of chromosomal abnormalities in high-risk pregnancies.
Front Genet
January 2025
Department of Laboratory, The Second People's Hospital of Yibin City, Yibin, Sichuan, China.
Objective: This study aims to assess the diagnostic efficacy of a combined approach integrating chromosomal karyotyping, copy number variation sequencing (CNV-seq), and quantitative fluorescence polymerase chain reaction (QF-PCR) in detecting chromosomal abnormalities in high-risk pregnancies.
Methods: This retrospective study analyzed 617 high-risk pregnancies undergoing prenatal diagnosis from February 2023 to August 2024, with amniotic fluid samples concurrently analyzed using karyotyping, CNV-seq, and QF-PCR. We evaluated clinical characteristics, diagnostic yields, and inter-method concordance rates.
Total Anomalous Pulmonary Venous Return, Marfan Syndrome, and Severe Combined Immunodeficiency: A Lethal Combination?
World J Pediatr Congenit Heart Surg
January 2025
Division of Cardiothoracic Surgery, The Heart Institute, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
The authors present an exceptionally rare case of a newborn in whom total anomalous pulmonary venous return (TAPVR) had been diagnosed prenatally and in whom genetic testing after neonatal cardiac repair confirmed a missense variant of the gene consistent with Marfan syndrome as well as a gene mutation associated with severe combined immunodeficiency. To the authors' knowledge, this is the first reported case with this unique combination. Neonatal TAPVR repair was undertaken with a good postoperative outcome and survival until the last follow-up.
View Article and Find Full Text PDFA prospective study of diagnostic testing and hospital charges after brief resolved unexplained event.
J Pediatr Gastroenterol Nutr
January 2025
Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, Massachusetts, USA.
Objectives: To evaluate diagnostic testing frequency/yield and determine drivers of hospital charges in a prospective cohort of infants with brief resolved unexplained event (BRUE) to test the hypothesis that length of stay (LOS), low-yield diagnostic testing, and repeat hospital visits increase costs.
Methods: We conducted a prospective cohort study of infants admitted after BRUE to determine how clinical practice impacts the cost of care. Charge data from our institution's billing records database included room and board, diagnostics, medications, and professional fees for index hospitalizations and 6-month follow-ups.
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