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Exosomal lncRNAs secreted by cancer cells can serve as potential biomarkers in the diagnosis and prognosis of various tumours. Here, we are committed to explore the diagnostic and prognostic value of serum exosomal XIST secreted by tumour cells to predict recurrence in patients with triple-negative breast cancer (TNBC). Significant increments in XIST and exo-XIST from tumour tissues and blood serum were found in reoccurring TNBC patients by comparison with non-recurrences. Levels of serum exo-XIST were only significantly increased in TNBC recurrence and no association with other clinicopathological parameters. Additionally, serum exo-XIST levels could be served as an assessment of change in the load of triple-negative breast cancer. Expressions of exo-XIST were markedly decreased after resection of the primary breast tumours and obviously elevated at the time of recurrence. Finally, an obvious association was identified between serum exo-XIST levels and a poorer overall survival (OS) in TNBC patients. Levels of serum exo-XIST may serve as a diagnostic and prognostic biomarker to predict the recurrent TNBC-loading status.Nursing and nurses have become reliant on qualitative methods to understand the meaning of nursing care, and many nurse researchers use Heideggerian Interpretivist phenomenology approaches. Often these nurses are unaware of Martin Heidegger's role in the German National Socialist Party of the 1930s and his allegiance to fascist ideology. We ask can a bad person have good ideas? In line with pragmatic thinkers such as Richard Rorty, we argue that instead of value judgements on people and their ideas, nurses should consider ideas as a product of a historical/social and political time and space. In urging a critical political engagement, we argue for a Husserlian approach. In opposition to Heidegger's interpretivist phenomenology approach, in which the hegemony of the day is integral to the phenomena being studied, we propose that a more expressive, collaborative engagement using Husserlian descriptive phenomenology approach would serve better in encouraging a more critical engagement with how ideas are used by groups of people, how some groups might be advantaged and others disadvantaged. Our conclusion is that the separation of ideas from political and social context is dangerous, and nurses, including nurse researchers, must understand how their research ideas and methods influence and are influenced by political agendas.Phelan-McDermid syndrome (PMS, OMIM #606232), also known as chromosome 22q13 deletion syndrome, is a rare genetic disorder characterized by intellectual disability, hypotonia, delayed or absent speech, motor impairment, autism spectrum disorder, behavioral anomalies, and minor aspecific dysmorphic features. Haploinsufficiency of SHANK3, due to intragenic deletions or point mutations, is sufficient to cause many neurobehavioral features of PMS. However, several additional genes located within larger 22q13 deletions can contribute to the great interindividual variability observed in the PMS phenotype. This review summarizes the phenotypic contributions predicted for 213 genes distributed along the largest 22q13.2-q13.33 terminal deletion detected in our sample of 63 PMS patients by array-CGH analysis, spanning 9.08 Mb. Genes have been grouped into four categories (1) genes causing human diseases with an autosomal dominant mechanism, or (2) with an autosomal recessive mechanism; (3) morphogenetically relevant genes, either involved in human diseases with additive co-dominant, polygenic, and/or multifactorial mechanisms, or implicated in animal models but not yet documented in human pathology; (4) protein coding genes either functionally nonrelevant, with unknown function, or pathogenic through mechanisms other than haploinsufficiency; piRNAs, noncoding RNAs, miRNAs, novel transcripts and pseudogenes. Our aim is to understand genotype-phenotype correlations in PMS patients and to provide clinicians with a conceptual framework to promote evidence-based genetic work-ups, clinical assessments, and therapeutic interventions.Wolf-Hirschhorn syndrome (WHS) is a contiguous gene disorder consisting of prenatal and postnatal growth deficiency, distinctive craniofacial features, intellectual disability, and seizures. The condition is caused by a partial loss of material from the distal portion of the short arm of chromosome 4 (4p16.3). While there are many reports of individuals with WHS, useful data on long-term survival and life status of adults with the syndrome are very limited. There are only 11 reports of individuals over the age of 18 years in the literature. Establishing the medical manifestations of adults with WHS would be helpful in establishing appropriate health supervision guidelines. This study was one component of a two-part investigation on adults with WHS. This patient-reported outcomes study (PROS) was accomplished by using the registry of rare diseases at Sanford Research, Coordination of Rare Diseases (CoRDS)at Sanford. Thirty family members or caretakers of 30 adults with WHS/4p- entered into the CoRDS registry and completed some or all of the survey data. Twelve caretakers completed the recently-added survey on activities of daily living. Two of the individuals with WHS were partly independent while 10 required total care. The results provide novel information on daily life and independence in adults with WHS. Importantly, the majority of caretakers reported that the adults were in good health. The data from both parts of the study will contribute to our knowledge of the natural history of the syndrome and guide in establishing appropriate health supervision guidelines for adults with WHS.Trees in northern latitude ecosystems are projected to experience increasing drought stress as a result of rising air temperatures and changes in precipitation patterns in northern latitude ecosystems. However, most drought-related studies on high-latitude boreal forests (>50°N) have been conducted in North America, with few studies quantifying the response in European and Eurasian boreal forests. Here, we tested how daily whole-tree transpiration (Q, Liters day-1 ) and Q normalized for mean daytime vapor pressure deficit (QDZ , Liters day-1 kPa-1 ) were affected by the historic 2018 drought in Europe. More specifically, we examined how tree species, size, and topographic position affected drought response in high-latitude mature boreal forest trees. We monitored 30 Pinus sylvestris (pine) and 30 Picea abies (spruce) trees distributed across a topographic gradient in northern Sweden. In general, pine showed a greater QDZ control compared to spruce during periods of severe drought (standardized precipitation-evapotranspiration index SPEI less then -1.5), suggesting that the latter are more sensitive to drought. Overall, QDZ reductions (using non-drought QDZ as reference) were less pronounced in larger trees during severe drought, but there was a species-specific pattern QDZ reductions were greater in pine trees at high elevations and greater in spruce trees at lower elevations. Despite lower QDZ during severe drought, drought spells were interspersed with small precipitation events and overcast conditions, and QDZ returned to pre-drought conditions relatively quickly. This study highlights unique species-specific responses to drought, which are additionally driven by a codependent interaction among tree size, relative topographic position, and unique regional climate conditions.Zymoseptoria tritici, the causal agent of Septoria tritici blotch, is a fungal wheat pathogen that causes significant global yield losses. Within Z. tritici populations, quantitative differences in virulence among different isolates are commonly observed; however, the genetic components that underpin these differences remain elusive. In this study, intraspecific comparative transcriptomic analysis was used to identify candidate genes that contribute to differences in virulence on the wheat cultivar WW2449. This led to the identification of a multicopy gene that was not expressed in the high-virulence isolate when compared to the medium- and low-virulence isolates. Further investigation suggested this gene resides in a 7.9-kb transposon. Subsequent long-read sequencing of the isolates used in the transcriptomic analysis confirmed that this gene did reside in an active Class II transposon, which is composed of four genes named REP9-1 to -4. Silencing and overexpression of REP9-1 in two distinct genetic backgrounds demonstrated that its expression alone reduces the number of pycnidia produced by Z. tritici during infection. The REP9-1 gene identified within a Class II transposon is the first discovery of a gene in a transposable element that influences the virulence of Z. tritici. This discovery adds further complexity to genetic loci that contribute to quantitative virulence in this important pathogen.
Patient-reported outcome measures (PROMs) are questionnaires that collect health outcomes directly from the people who experience them. This review critically synthesizes information on generic and selected condition-specific PROMs to describe trends and contemporary issues regarding their development, validation and application.
We reviewed academic and grey literature on validated PROMs by searching databases, prominent websites, Google Scholar and Google Search. The identification of condition-specific PROMs was limited to common conditions and those with a high burden of disease (eg cancers, cardiovascular disorders). Trends and contemporary issues in the development, validation and application of PROMs were critically evaluated.
The search yielded 315 generic and condition-specific PROMs. The largest numbers of measures were identified for generic PROMs, musculoskeletal conditions and cancers. The earliest published PROMs were in mental health-related conditions. The number of PROMs grew substantially between 1980s and 2000s but slowed more recently. The number of publications discussing PROMs continues to increase. Issues identified include the use of computer-adaptive testing and increasing concerns about the appropriateness of using PROMs developed and validated for specific purposes (eg research) for other reasons (eg clinical decision making).
The term PROM is a relatively new designation for a range of measures that have existed since at least the 1960s. Although literature on PROMs continues to expand, challenges remain in selecting reliable and valid tools that are fit-for-purpose from the many existing instruments.
Consumers were not directly involved in this review; however, its outcome will be used in programmes that engage and partner with consumers.
Consumers were not directly involved in this review; however, its outcome will be used in programmes that engage and partner with consumers.In this paper, we call for an ontological and reflexive turn in first-year nursing education. An ontological turn focuses on formation, the 'being' and 'becoming' of a nurse, and emphasizes the value of nursing knowledge. First-year nursing students often possess romanticized ideals about being a nurse that devalues the knowledge and expertise of nurses. We posit a thoughtful ontological orientation within nursing education that shifts the emphasis toward becoming skillful nurses, with expertise grounded in nursing perspectives. A focus on formation includes discussions regarding ideologies, dominant perspectives, and reflexive explorations of students' views of nursing juxtaposed with the realities of nursing practice. selleckchem We propose ontologic reflexivity as an approach to consider what perspectives are prioritized (or not) within the nursing classroom. Within pedagogical dialogic spaces, ontologic reflexivity calls on educators to create opportunities for students to learn the value of nursing knowledge along with other forms of knowledge.
My Website: https://www.selleckchem.com/peptide/gp91ds-tat.html
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