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This report illustrates the value of whole genome sequencing (WGS) in elucidating the genetic cause of disease in patients with primary immunodeficiency (PID). As sequencing costs decline, we predict that utilization of next generation sequencing (NGS) in the clinical setting will increase.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5037571 | PMC |
http://dx.doi.org/10.1016/j.jaci.2015.02.040 | DOI Listing |
Am J Emerg Med
September 2025
Department of Surgical Education, Orlando Regional Medical Center, Orlando, FL, USA; Department of Surgery, Division of Trauma and Surgical Critical Care, Orlando Regional Medical Center, Orlando, FL, USA. Electronic address:
Background: There is conflicting literature regarding mortality outcomes associated with REBOA usage in patients with severe thoracic or abdominal trauma. Our study aims to assess the benefits and negative implications of REBOA use in adult trauma patients in hemorrhagic shock with severe thoracic or abdominal injuries.
Methods: This retrospective cohort analysis utilized the American College of Surgeons Trauma Quality Improvement Program Participant Use File (ACS-TQIP-PUF) database from 2017 to 2023 to evaluate adult patients with severe isolated thoracic or abdominal trauma undergoing REBOA placement.
Turk J Pediatr
September 2025
Division of Allergy and Asthma, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Türkiye.
Animal allergens, particularly those from cats, dogs, and horses, are significant risk factors for the development of allergic diseases in childhood. Managing animal allergies requires allergen avoidance and, when this is not feasible, specific immunotherapy. Patient history remains the cornerstone of diagnosis, providing the foundation for diagnostic algorithms.
View Article and Find Full Text PDFJMIR Res Protoc
September 2025
Department of Medical Oncology, Early Phase Unit, Georges-François Leclerc Centre, Dijon, France.
Background: Sarcomas are rare cancer with a heterogeneous group of tumors. They affect both genders across all age groups and present significant heterogeneity, with more than 70 histological subtypes. Despite tailored treatments, the high metastatic potential of sarcomas remains a major factor in poor patient survival, as metastasis is often the leading cause of death.
View Article and Find Full Text PDFJMIR Hum Factors
September 2025
Media Psychology Lab, Department of Communication Science, KU Leuven, Leuven, Belgium.
Background: Out-of-hospital cardiac arrests (OHCAs) are a leading cause of death worldwide, yet first responder apps can significantly improve outcomes by mobilizing citizens to perform cardiopulmonary resuscitation before professional help arrives. Despite their importance, limited research has examined the psychological and behavioral factors that influence individuals' willingness to adopt these apps.
Objective: Given that first responder app use involves elements of both technology adoption and preventive health behavior, it is essential to examine this behavior from multiple theoretical perspectives.
Retina
September 2025
Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA.
Purpose: To report outcomes of suprachoroidal hemorrhage (SCH).
Methods: Retrospective non-randomized study of eyes with SCH from two sites (1/1/2013-12/31/2022). The primary outcome was the 6-month change in visual acuity (VA).