The benefit of disclosing test results to next of kin is to improve prognosis and-in some cases-even prevent death though earlier monitoring or preventive therapies. Research on this subject has explored the question of intra-familial communication from the standpoint of patients and relatives but rarely, from the standpoint of healthcare professionals. The purpose of this study was to interview relevant healthcare professionals in France, where legislation framing the issue was recently passed. A qualitative study consisting of semi-structured interviews was set up to get a clearer picture of the challenges arising from this issue, its consequences in terms of medical care-service practices, and the positions that frontline professionals have taken in response to this new legal framework. The findings from eight interviews with 7 clinical geneticists and 1 genetic counselor highlight very different patterns of practices among care services and among the genetic diseases involved. It is equally crucial to investigate other issues such as the nature of genetic testing and its consequences in terms of disclosing results to kin, the question of the role of genetic counseling in the disclosure process, the question of prescription by non-geneticist clinicians, and practical questions linked to information content, consent and medical follow-up for patients and their relatives.
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http://dx.doi.org/10.1007/s10897-015-9896-7 | DOI Listing |
Medicine (Baltimore)
January 2025
Department of Pediatric Hematology, Children's Medical Center, The First Hospital of Jilin University, Changchun, China.
Rationale: This study presents a case of hemoglobin M disease (HMD), a rare inherited disorder characterized by persistent cyanosis and hypoxemia, observed across 3 generations within a single family. The diagnosis of HMD poses significant challenges, particularly in asymptomatic individuals, due to its rarity and the subtlety of its symptoms. Notably, there is a scarcity of reports on methemoglobinemia in pediatric populations, which further complicates early detection and intervention.
View Article and Find Full Text PDFJ Neurosurg Spine
January 2025
1Department of Neurosurgery, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania; and.
Objective: Smartphones and wearable devices can be effective tools to objectively assess patient mobility and well-being before and after spine surgery. In this retrospective observational study, the authors investigated the relationship between these longitudinal perioperative patient activity data and socioeconomic and demographic correlates, assessing whether smartphone-captured metrics may allow neurosurgeons to distinguish intergroup patterns.
Methods: A multi-institutional retrospective study of patients who underwent spinal decompression with and without fusion between 2017 and 2021 was conducted.
JCO Oncol Pract
January 2025
College of Population Health, Thomas Jefferson University, Philadelphia, PA.
Purpose: Financial toxicity (FT) has been linked to higher symptom burden and poorer clinical outcomes for patients with cancer. Despite the availability of validated tools to measure FT, a simple screen remains an unmet need. We evaluated item 12 ("My illness has been a financial hardship to my family and me") of the COmprehensive Score for Financial Toxicity (COST) measure as a single-item FT screening measure.
View Article and Find Full Text PDFPsychol Rep
January 2025
Faculty of Education, Guangxi Normal University, Guilin, China Guangxi College and University Key Laboratory of Cognitive Neuroscience and Applied Psychology, Guilin, China.
Strengths knowledge refers to individuals' perceptions and recognition of their strengths, and is recognized for its protective role in mental health. Family functioning provides certain environmental conditions for the healthy development of family members in physical, psychological, and social aspects, particularly during stressful periods such as the COVID-19 pandemic. It also plays an important role in youth's ability to cope with stressful situations.
View Article and Find Full Text PDFJ Urol
January 2025
Department of Population Health, NYU Grossman School of Medicine, New York, New York.
Purpose: We aimed to determine whether implementation of clinical decision support (CDS) tool integrated into the electronic health record (EHR) of a multi-site academic medical center increased the proportion of patients with American Urological Association (AUA) "high risk" microscopic hematuria (MH) who receive guideline concordant evaluations.
Materials And Methods: We conducted a two-arm cluster randomized quality improvement project in which 202 ambulatory sites from a large health system were randomized to either have their physicians receive at time of test results an automated CDS alert for patients with 'high-risk' MH with associated recommendations for imaging and cystoscopy (intervention) or usual care (control). Primary outcome was met if a patient underwent both imaging and cystoscopy within 180 days from MH result.
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