We hypothesized that ethical criteria that guide the use of preimplantation genetic testing (PGT) could be used to inform policies about expanded use of non-invasive prenatal screening (NIPS). We used a systematic review of reasons approach to assess ethical criteria used to justify using (or not using) PGT for genetic conditions. Out of 1135 identified documents, we retained and analyzed 216 relevant documents. Results show a clear distinction in acceptability of PGT for medical vs. non-medical conditions. Criteria to decide on use of PGT for medical conditions are largely based on their severity, but there is no clear definition of "severity". Instead, characteristics of the condition that relate to severity are used as sub-criteria to assess severity. We found that characteristics that are used as sub-criteria for assessing severity include monogenic etiology, high penetrance, absence of treatment, early age of onset, shortened lifespan, and reduced quality of life. Consensus about the use of PGT is highest for conditions that meet most of these criteria. There is no consensus around the acceptability of using PGT to detect non-medical conditions. We propose that the same severity criteria could be used by policymakers to assess the acceptability of using other genetic tests in screening and practice, including for the use of NIPS for additional conditions as indications broaden.
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http://dx.doi.org/10.1038/s41431-024-01714-8 | DOI Listing |
Forensic Sci Med Pathol
January 2025
LaTIM, Inserm UMR 1101, 22 Avenue Camille-Desmoulins, CS 93837, Brest cedex, 29238, France.
Pneumopericardium (PPC) is defined by the presence of gas in the pericardial cavity, often leading to cardiac tamponade and a high mortality rate. This report describes a case involving a 33-year-old man found deceased a few meters from a knife, his clothes intact, with no resuscitation attempt made. A knotted scarf was tightly fastened around his neck, without ligature mark.
View Article and Find Full Text PDFEndocrine
January 2025
Department of Health Management, Chronic Health Management Laboratory, Henan Provincial People's Hospital, Zhengzhou, 450003, China.
Background: The impact of fatty liver disease on lumbar bone mineral density (BMD) represents an intriguing area of study, particularly in light of established research linking obesity to bone metabolism. However, there remains limited investigation into the correlation between quantifying liver fat content (LFC) and lumbar BMD among overweight and obese populations, particularly within the Chinese demographic. This study aims to accurately quantify LFC and investigate its association with lumbar BMD in overweight or obese individuals.
View Article and Find Full Text PDFEndocrine
January 2025
Department of Zoology, Institute of Science, Banaras Hindu University, Varanasi, Uttar Pradesh, India.
The word "cancer" evokes myriad emotions, ranging from fear and despair to hope and determination. Cancer is aptly defined as a complex and multifaceted group of diseases that has unapologetically led to the loss of countless lives and affected innumerable families across the globe. The battle with cancer is not only a physical battle, but also an emotional, as well as a psychological skirmish for patients and for their loved ones.
View Article and Find Full Text PDFRes Child Adolesc Psychopathol
January 2025
Department of Psychiatry and Behavioral Health, Penn State College of Medicine, Hershey, PA, USA.
This study examined the interplay of psychopathic traits, executive functioning, and antisocial behavior among adjudicated youth, with a focus on the potential moderating role of executive function. The current study uses data from the Pathways to Desistance dataset was examined, utilizing the Psychopathy Checklist: Youth Version (PCL-YV) and the Stroop Color-Word Task to measure psychopathic traits and executive functioning, respectively. Violent and property offending frequencies were self-reported.
View Article and Find Full Text PDFJ Orthop Traumatol
January 2025
Unità Operativa di Ortopedia e Traumatologia, APSS Trento, Largo Medaglie d'oro, 9, 38121, Trento, Italy.
Background: The Masquelet induced membrane technique is a surgical procedure that allows the reconstruction of segmental bone defects using a relatively simple approach that requires minimal resources from both the healthcare facility and the patient. Historically applied to the lower limb, this technique is gaining increasing attention in the literature for its use in the upper limb.
Methods: A systematic review of the literature was conducted using the PubMed and Google Scholar databases to identify all studies reporting the outcomes of the Masquelet induced membrane technique in the long bones of the upper limb (humerus, radius, and ulna) with a sample size of at least 3 patients.
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