Background: Information to kin is one of the major ethical problems of the new genetics. In France, the revised bioethics law in 2011 created the possibility for patients to authorize professionals, under certain conditions, to directly contact their relatives at risk. Beyond this, other actors, such as GPs, could however play a role in this process.
Methods: Our article is based on an ethnographic-type sociological study by observations and semi-structured interviews with patients (n=59) and genetic professionals (n=16) that took place from 2014 to 2016 in three genetic hospital wards in France and Canada. It focuses particularly on genetic predispositions to breast and ovarian cancers as well as genetic hemochromatosis.
Results: Because of its position as a primary care specialist, the general practitioner can play a decisive role in the process of informing relatives about genetic disorders. Upstream of the genetic test, the generalist, thanks to his knowledge of the family context of his patients, can play a referral role towards a specialized consultation. Downstream, it can also ensure a more effective follow-up of the information procedures undertaken by its patients thanks to the medical follow-up that it carries out.
Conclusion: The data collected during our study highlight the unprecedented place that could be that of the general practitioner in the field of prevention in genetics. At the articulation between primary care and highly specialized care, it is the figure of the "family" doctor who seems to be called here to be renewed by genetics.
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http://dx.doi.org/10.1016/j.respe.2018.07.003 | DOI Listing |
J Surg Res
January 2025
Department of Surgery, Washington University School of Medicine, Saint Louis, Missouri.
Background: Radioactive iodine (RAI) is a common treatment for various thyroid diseases. Previous studies have suggested susceptibility of parathyroid glands to the mutagenic effect of RAI and the development of primary hyperparathyroidism (PHPT). We tested the possible link between prior RAI treatment, disease presentation, and treatment outcomes.
View Article and Find Full Text PDFJ Pediatr Nurs
January 2025
University of Padua, Laboratory of Studies and Evidence Based Nursing, Department of Cardiac, Thoracic, Vascular Sciences and Public Health, Padua, Italy.
Purpose: The primary challenge in infant care is developing a comprehensive, rapid, and reliable assessment tool that is minimally dependent on subjective evaluations and applicable in various inpatient settings. This study aims to develop and assess the structural validity of the Infant Nursing Assessment Scale (INA), enabling a comprehensive evaluation of hospitalized newborns and infants.
Design And Methods: A development and validation study based on cross-sectional design was undertaken.
J Neurosurg Pediatr
January 2025
1Division of Neurosurgery, Department of Surgery.
Objective: The current neurosurgical treatment for intraventricular hemorrhage (IVH) of prematurity resulting in posthemorrhagic hydrocephalus (PHH) seeks to reduce intracranial pressure with temporary and then permanent CSF diversion. In contrast, neuroendoscopic lavage (NEL) directly addresses the intraventricular blood that is hypothesized to damage the ependyma and parenchyma, leading to ventricular dilation and hydrocephalus. The authors sought to determine the feasibility of NEL in PHH.
View Article and Find Full Text PDFJ Med Internet Res
January 2025
Division of Clinical Pathology, Department of Pathology, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan.
Background: Sepsis, a critical global health challenge, accounted for approximately 20% of worldwide deaths in 2017. Although the Sequential Organ Failure Assessment (SOFA) score standardizes the diagnosis of organ dysfunction, early sepsis detection remains challenging due to its insidious symptoms. Current diagnostic methods, including clinical assessments and laboratory tests, frequently lack the speed and specificity needed for timely intervention, particularly in vulnerable populations such as older adults, intensive care unit (ICU) patients, and those with compromised immune systems.
View Article and Find Full Text PDFJCO Oncol Pract
January 2025
Section of Hematology & Oncology, Department of Medicine, University of Oklahoma Health Sciences Center, Stephenson Cancer Center, Oklahoma City, OK.
Purpose: Older adults with cancer have unique needs, which likely influence surgical outcomes in the geriatric oncology population. We conducted a systematic review to describe the literature focused on perioperative supportive care interventions for older adults with cancer undergoing surgery.
Methods: Following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, we performed a comprehensive search using the Ovid MEDLINE, CINAHL, and Embase databases for literature published from January 2010 to October 2023.
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