Background: Over the past 20 years, studies have revealed that the communication of a pre-symptomatic test (PST) result for late-onset diseases, such as Huntington’s disease (HD), doesn’t cause psychological disturbance. This cross-sectional study investigated the middle- (4 years) to long-term (7 and 10 years) psychological impact of PST for 3 autosomal dominant late-onset diseases: HD, Machado-Joseph disease (DMJ) and familial amyloid polyneuropathy (FAP).
Method: The study included 203 subjects: 170 (84%) agreed to make the PST for FAP, 29 (14%) for HD and 4 (2%) for MJD. They were mostly women (58%) and married (67%). It was considered the cutoffs points: 4 years (middle-term) and 7 and 10 years (long-term) indicating the time after receiving the TPS results.
Results: women and widows (oldest) presented the highest mean values for almost all BSI dimensions and the highest values correspond to the obsessive-compulsive dimension. MJD participants presented the highest mean values. No differences were found concerning the PST test results while participants are still asymptomatic. Psychopathology was only present in symptomatic carriers.
Conclusions: The onset of the disease seems to assume the trigger for psychological disturbance, regardless the time that has elapsed since the PST result communication or the individual carrier/non-carrier condition.
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http://dx.doi.org/10.7334/psicothema2016.298 | DOI Listing |
Sci Rep
December 2024
Department of Mechanical Engineering, School of Science and Engineering, The American University in Cairo, AUC Avenue, 11835, New Cairo, Egypt.
This study investigates the ablation performance of Inconel 718, a nickel-based superalloy, and metal matrix polycrystalline diamond (MMPCD), a super composite, using a nano-second (ns) pulsed laser across a range of ablation conditions. Single trenches varying in energy fluence and scanning speeds were created, analyzing the experimental responses in terms of ablation rate and surface roughness. Using regression techniques, models were developed to understand these relationships.
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December 2024
School of Environmental Science, The University of Shiga Prefecture, Hassakacho, Hikone, 2500, 522-8533, Japan.
Mangrove forests are increasingly recognized as vital blue carbon ecosystems due to their high carbon sequestration capacity, primarily through the accumulation of soil organic carbon (SOC). Recent research highlights that, in addition to SOC, dissolved inorganic carbon (DIC), particularly in the form of bicarbonate (HCO₃⁻), plays a crucial role in carbon sequestration by being exported from these ecosystems to adjacent coastal waters. This study aims to investigate the previously unexamined mechanisms behind bicarbonate production in mangrove soils.
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December 2024
Laboratoire Campus de Biotechnologies Végétales, Département de Biologie Végétale, Faculté des Sciences et Techniques, Université Cheikh Anta Diop, Dakar-Fann, Dakar, 10700, Senegal.
Cowpea is a seed legume, important for food and nutritional security in Africa's arid and semi-arid zones. Despite its importance, cowpea is experiencing a loss of genetic diversity due to climate change. Therefore, this study aimed to evaluate the genetic variability of 33 cowpea mutant collections using 20 SSR and 13 ISSR markers.
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December 2024
Department of Biochemistry and Molecular Biology, Medical University of Lublin, 20-093, Lublin, Poland.
Using Fourier Transform Infrared spectroscopy (FTIR), it is possible to show chemical composition of materials and / or profile chemical changes occurring in tissues, cells, and body fluids during onset and progression of diseases. For diagnostic application, the use of blood would be the most appropriate in biospectroscopy studies since, (i) it is easily accessible and, (ii) enables frequent analyses of biochemical changes occurring in pathological states. At present, different studies have investigated potential of serum, plasma and sputum being alternative biofluids for lung cancer detection using FTIR.
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December 2024
Research Department of Early Life Imaging, School of Biomedical Engineering and Imaging Sciences, King's College London, London, UK.
Purpose: Human brain development during gestation is complex, as both structure and function are rapidly forming. Structural imaging methods using MRI are well developed to explore these changes, but functional imaging tools are lacking. Low-field MRI is a promising modality to bridge this gap.
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