The success of genetic research studies depend on patients' willingness to participate. It is thus important to explore the attitudes of individuals that participate in such studies. This study used qualitative methods to explore how individuals with inherited retinal degenerative disorders (RDD) perceived participating in genetic research and subsequently receiving mutation results. Individual interviews were conducted with all the individuals in the Cape Town Metropolitan area who had received mutation results after participating in a genetic research program (4 individuals). Although experiences differed significantly, the study revealed that the participants had positive attitudes towards participating in the RDD research program. This study illustrates the importance of using qualitative methods in ophthalmic populations to explore important issues.
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http://dx.doi.org/10.1080/13816810701356627 | DOI Listing |
Ann Am Thorac Soc
January 2025
Hangzhou Medical College, Hangzhou, China;
Rationale: Tobacco smoking is a well-established risk factor for idiopathic pulmonary fibrosis (IPF), yet the influence of early-life tobacco exposure on future IPF risk remains poorly understood.
Objectives: To test the hypothesis that early-life tobacco exposure may elevate the risk of developing IPF, with this effect potentially modified by genetic susceptibility to IPF and mediated through accelerated biological aging.
Methods: Using data from over 430,000 participants in the UK Biobank, we performed a prospective cohort study to examine the associations of maternal smoking around birth and age of smoking initiation with IPF risk.
PLoS One
January 2025
Faculty of Sciences and Technology (FAST), Laboratory of Biology and Molecular Typing in Microbiology (LBTMM), University of Abomey-Calavi, Atlantic, Benin.
Background: Antiretroviral treatment increases the risk of accumulation of resistance mutations that negatively impact the possibilities of future treatment. This study aimed to present the frequency of HIV-1 antiretroviral resistance mutations and the genetic diversity among children with virological failure in five pediatric care facilities in Benin.
Methods: A cross-sectional study was carried out from November 20, 2020, to November 30, 2022, in children under 15 years of age who failed ongoing antiretroviral treatment at five facilities care in Benin (VL > 3log10 on two consecutive realizations three months apart).
PLoS One
January 2025
Marie Curie Research Centre, Division of Population Medicine, School of Medicine, Cardiff University, Cardiff, United Kingdom.
To undertake a mixed-methodology implementation study to improve the well-being of men with gastrointestinal late effects following radical radiotherapy for prostate cancer. All men completed a validated screening tool for late bowel effects (ALERT-B) and the Gastrointestinal Symptom Rating Score (GSRS); men with a positive score on ALERT-B were offered management following a peer reviewed algorithm for pelvic radiation disease (PRD). Health-related quality of life (HRQoL) at baseline, 6 and 12 months; and healthcare resource usage (HRU) and patient, support-giver, staff experience and acceptability of staff training (qualitative analysis) were assessed.
View Article and Find Full Text PDFJAMA Netw Open
January 2025
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland.
Importance: Sensitivity to environmental stress and adversity may influence lung cancer risk, highlighting a critical link between psychosocial factors and cancer etiology.
Objective: To evaluate whether genetically estimated sensitivity to environmental stress and adversity is associated with lung cancer risk.
Design, Setting, And Participants: Data were obtained from a genome-wide association study identifying 37 independent genetic variants strongly associated with sensitivity to environmental stress and adversity and a cross-ancestry genome-wide meta-analysis from the International Lung Cancer Consortium.
Appl Microbiol Biotechnol
January 2025
Chair of Microbiology, Technical University of Munich, TUM School of Life Science, Emil-Ramann-Str. 4, 85354, Freising, Germany.
The anaerobic bacterium Clostridium cellulovorans is a promising candidate for the sustainable production of biofuels and platform chemicals due to its cellulolytic properties. However, the genomic engineering of the species is hampered because of its poor genetic accessibility and the lack of genetic tools. To overcome this limitation, a protocol for triparental conjugation was established that enables the reliable transfer of vectors for markerless chromosomal modification into C.
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