Gene Carriers
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Cancers ◽  
2021 ◽  
Vol 13 (21) ◽  
pp. 5554
Author(s):  
Alessandro Prete ◽  
Antonio Matrone ◽  
Carla Gambale ◽  
Valeria Bottici ◽  
Virginia Cappagli ◽  
...  

Multiple Endocrine Neoplasia 2 (MEN2) is a hereditary cancer syndrome for developing medullary thyroid cancer (MTC) due to germline mutations of RET gene. Subjects harboring a germline RET mutation without any clinical signs of MTC are defined as gene carriers (GCs), for whom guidelines propose a prophylactic thyroid surgery. We evaluate if active surveillance of GCs, pursuing early thyroid surgery, can be safely proposed and if it allows safely delaying thyroid surgery in children until adolescence/adulthood. We prospectively followed 189 GCs with moderate or high risk germline RET mutation. Surgery was planned in case of: elevated basal calcitonin (bCT) and/or stimulated CT (sCT); surgery preference of subjects (or parents, if subject less than 18 years old); other reasons for thyroid surgery. Accordingly, at RET screening, we sub-grouped GCs in subjects who promptly were submitted to thyroid surgery (Group A, n = 67) and who were not (Group B, n = 122). Group B was further sub-grouped in subjects who were submitted to surgery during their active surveillance (Group B1, n = 22) and who are still in follow-up (Group B2, n = 100). Group A subjects presented significantly more advanced age, bCT and sCT compared to Group B. Mutation RETV804M was the most common variant in both groups but it was significantly less frequent in Group A than B. Analyzing age, bCT, sCT and genetic landscape, Group B1 subjects differed from Group B2 only for sCT at last evaluation. Group A subjects presented more frequently MTC foci than Group B1. Moreover, Group A MTCs presented more aggressive features (size, T and N) than Group B1. Accordingly, at the end of follow-up, all Group B1 subjects presented clinical remission, while 6 and 12 Group A MTC patients had structural and biochemical persistent disease, respectively. Thank to active surveillance, only 13/63 subjects younger than 18 years at RET screening have been operated on during childhood and/or adolescence. In Group B1, three patients, while actively surveilled, had the possibility to reach the age of 18 (or older) and two patients the age of 15, before being submitted to thyroid surgery. In Group B2, 12 patients become older than 18 years and 17 older than 15 years. In conclusion, we demonstrated that an active surveillance pursuing an early thyroid surgery could be safely recommended in GCs. This patient-centered approach permits postponing thyroid surgery in children until their adolescence/adulthood. At the same time, we confirmed that genetic screening allows finding hidden MTC cases that otherwise would be diagnosed much later.


2021 ◽  
Author(s):  
Samuel RC Hewitt ◽  
Alice J White ◽  
Sarah L Mason ◽  
Roger A Barker

ABSTRACT Objectives Insight is an important predictor of quality of life in Huntington's disease and other neurodegenerative conditions. However, estimating insight with traditional methods such as questionnaires is challenging and subject to limitations. This study experimentally quantified metacognitive insight into cognitive performance in Huntington's disease gene-carriers. Methods We dissociated perceptual decision-making performance and metacognitive insight into performance in healthy controls (n=29), premanifest (n=19) and early-manifest (n=10) Huntington's disease gene-carriers. Insight was operationalised as the degree to which a participant's confidence in their performance was informative of their actual performance (metacognitive efficiency) and estimated using a computational model (HMeta-d). Results We found that pre and early-manifest Huntington's disease gene-carriers were impaired in making perceptual decisions compared to controls. Gene-carriers required more evidence in favour of the correct choice to achieve similar performance and perceptual impairments were increased in those with manifest disease. Surprisingly, despite marked perceptual impairments, Huntington's disease gene-carriers retained metacognitive insight into their perceptual performance. This was the case after controlling for confounding variables and regardless of disease stage. Conclusion We report for the first time a dissociation between impaired cognition and intact metacognition (trial-by-trial insight) in the early-stages of a neurodegenerative disease. This unexpected finding contrasts with the prevailing assumption that cognitive deficits are associated with impaired insight. Future studies should investigate how intact metacognitive insight could be used by some early Huntington's disease gene-carriers to positively impact their quality of life. Key words: Huntington's disease, decision-making, cognition, insight, metacognition


2021 ◽  
Vol 29 (9) ◽  
pp. 636-647
Author(s):  
Jeil Lee ◽  
Seunghye Park ◽  
Yong-Eun Kwon ◽  
Eugeney Oh ◽  
Dong Woon Kim ◽  
...  

2021 ◽  
Author(s):  
Mehrnoosh Kazemi Ashtiyani ◽  
Behnam Hajipour-Verdom ◽  
Mohammad Satari ◽  
Parviz Abdolmaleki ◽  
Saman Hosseinkhani ◽  
...  

Abstract BackgroundNon-viral gene carriers because of their limited side effects, biocompatibility, simplicity and taking the advantages of electrostatic interactions have shown noticeable potential in gene delivery. The low transfection rate of non-viral vectors under physiological conditions is a significant issue. MethodsWe investigated the efficacy of hydrophilic and hydrophobic groups on gene carriers such as two synthesized amphiphilic polymer of dextran-stearic acid-spermine (DSASP) with verified lipid and amine conjugations that associated with Fe3O4 superparamagnetic nanoparticles to promote the target delivery and decrease the transfection time using static magnetic field.ResultsOur findings illustrate that magnetic nanoparticles are spherical with positive surface charges and superparamagnetic behaviors. The DSASP–pDNA/MNPs offered a strong pDNA condensation, protection against DNase degradation, significant cell viability in HEK 293T cells. Although conjugations of spermine play a critical role in transfection efficiency, amphiphilic polymer with more derivatives of stearic acid showed better transfection yields. ConclusionDSASP amphiphilic magnetic carriers offer new insights for gene delivery due to the amine contents and ameliorate the uptake of complexes via cell membrane based on its hydrophilic surface.


2021 ◽  
Author(s):  
Rachael Scahill ◽  
Paul Zeun ◽  
Katherine Osborne-Crowley ◽  
Eileanoir Johnson ◽  
Sarah Gregory ◽  
...  

2021 ◽  
pp. 34-37
Author(s):  
Р.Х. Беков

Рассмотрены важные аспекты использования геноносителей различных маркерных признаков при создании и селекции гетерозисных гибридов томата для защищенного грунта. Наряду с общими требованиями к родительским компонентам, касающимися продуктивности растений, скороспелости, устойчивости к болезням и т. д., сегодня при селекции на гетерозис для защищенного грунта к исходному материалу предъявляют более высокие требования по наличию хозяйственно полезных признаков. Эти требования касаются типа роста растений, формы, окраски и качества плодов, типа кисти, формы плодоножки и т. д. Представлены характеристики исходного материала для создания гетерозисных гибридов томата, а также даны характеристики полученных гибридов. Исследования, проведенные в отделе селекции ВНИИО (ВНИИ овощеводства – филиал ФГБНУ ФНЦО), показали большую перспективность использования при гетерозисной селекции томата для защищенного грунта геноносителей различных маркерных признаков, особенно признаков, определяющих коричневую окраску эндосперма семян (гены bs и bs-2) и несочлененную плодоножку (ген j-2). Созданные с использованием этих маркерных признаков гибриды и селекционные линии по-своему уникальны и являются приоритетным достижением этого научного учреждения, так как они представляют большой интерес для гетерозисной селекции томата в качестве исходного материала. Целый ряд гибридов F1 включен в Госреестр селекционных достижений, допущенных к использованию (Удача, Голубчик, Клад овощевода, Заур и др.). В связи с развитием фермерского и любительского овощеводства в последние годы определенное внимание было уделено созданию новых мутантных линий с розовыми, малиновыми и темно-коричневыми плодами с высокими вкусовыми качествами (учитывая, что образцы такого типа пользуются повышенным спросом у населения и стоят дороже). При создании новых гетерозисных гибридов были учтены эти признаки родительских форм. Important aspects of the use of gene carriers of various marker traits in the creation and selection of heterotic tomato hybrids for greenhouse industry are considered. Along with the general requirements for the parent components concerning plant productivity, precocity, resistance to diseases, etc., today, when breeding for heterosis for greenhouse industry, higher requirements are imposed on the source material for the presence of economically useful features. These requirements relate to the type of plant growth, shape, colour and quality of fruits, brush type, stem shape, etc. The characteristics of the initial material for creating heterotic tomato hybrids are presented, as well as the characteristics of the resulting hybrids are given. Studies conducted in the breeding department of the ARRIVG (ARRIVG – a branch of the FSBI FSCV) showed great prospects for the use of gene carriers of various marker traits, especially those that determine the brown colour of the seed endosperm (bs and bs-2 genes) and an undifferentiated peduncle (j-2 gene) in the heterosis breeding of tomatoes for greenhouses. Hybrids and breeding lines created using these marker traits are unique in their own way and are a priority achievement of this scientific institution, since they are of great interest for the heterosis breeding of tomato as a basic material. A number of F1 hybrids are included in the State Register of Breeding Achievements allowed for use (Udacha, Golubchik, Klad ovoschevoda, Zaur, etc.). Due to the development of farming and amateur vegetable growing in recent years, some attention has been paid to the creation of new mutant lines with pink, crimson and dark brown fruits with high taste qualities (given that samples of this type are in high demand among the population and are more expensive). When creating new heterotic hybrids, these features of the parent forms were taken into account.


Author(s):  
Eirene I. Germanidis ◽  
Robert Schulz ◽  
Fanny Quandt ◽  
Victor F. Mautner ◽  
Christian Gerloff ◽  
...  

Author(s):  
Mehrnoosh Kazemi Ashtiyani ◽  
Behnam Hajipour-Verdom ◽  
Mohammad Satari ◽  
Parviz Abdolmaleki ◽  
Saman Hosseinkhani

Non-viral gene carriers because of their limited side effects, biocompatibility, simplicity and taking the advantages of electrostatic interactions have shown noticeable potential in gene delivery. The low transfection rate of non-viral vectors under physiological conditions is a significant issue. Here, the aim of this study was to investigate the efficacy of hydrophilic and hydrophobic groups on gene carriers such as two synthesized amphiphilic polymer of dextran-stearic acid-spermine (DSASP) with verified lipid and amine conjugations that associated with Fe3O4 superparamagnetic nanoparticles to promote the target delivery and decrease the transfection time using static magnetic field. Our findings illustrate that magnetic nanoparticles are spherical with positive surface charges and superparamagnetic behaviors. The DSASP–pDNA/MNPs offered a strong pDNA condensation, protection against DNase degradation, significant cell viability in HEK 293T cells and. Although conjugations of spermine play a critical role in transfection efficiency, amphiphilic polymer with more derivatives of stearic acid showed better transfection yields. Therefore, DSASP amphiphilic magnetic carriers offer new insights for gene delivery due to the amine contents and ameliorate the uptake of complexes via cell membrane based on its hydrophilic surface.


Author(s):  
Fang Tang ◽  
Jin-Yu Liu ◽  
Cheng-Yan Wu ◽  
Ya-Xuan Liang ◽  
Zhong-Lin Lu ◽  
...  

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