| 1. |
- Clark, M. S., et al.
(author)
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Deciphering mollusc shell production: the roles of genetic mechanisms through to ecology, aquaculture and biomimetics
- 2020
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In: Biological Reviews. - : Wiley. - 1464-7931 .- 1469-185X. ; 95:6, s. 1812-37
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Journal article (peer-reviewed)abstract
- Most molluscs possess shells, constructed from a vast array of microstructures and architectures. The fully formed shell is composed of calcite or aragonite. These CaCO(3)crystals form complex biocomposites with proteins, which although typically less than 5% of total shell mass, play significant roles in determining shell microstructure. Despite much research effort, large knowledge gaps remain in how molluscs construct and maintain their shells, and how they produce such a great diversity of forms. Here we synthesize results on how shell shape, microstructure, composition and organic content vary among, and within, species in response to numerous biotic and abiotic factors. At the local level, temperature, food supply and predation cues significantly affect shell morphology, whilst salinity has a much stronger influence across latitudes. Moreover, we emphasize how advances in genomic technologies [e.g. restriction site-associated DNA sequencing (RAD-Seq) and epigenetics] allow detailed examinations of whether morphological changes result from phenotypic plasticity or genetic adaptation, or a combination of these. RAD-Seq has already identified single nucleotide polymorphisms associated with temperature and aquaculture practices, whilst epigenetic processes have been shown significantly to modify shell construction to local conditions in, for example, Antarctica and New Zealand. We also synthesize results on the costs of shell construction and explore how these affect energetic trade-offs in animal metabolism. The cellular costs are still debated, with CaCO(3)precipitation estimates ranging from 1-2 J/mg to 17-55 J/mg depending on experimental and environmental conditions. However, organic components are more expensive (similar to 29 J/mg) and recent data indicate transmembrane calcium ion transporters can involve considerable costs. This review emphasizes the role that molecular analyses have played in demonstrating multiple evolutionary origins of biomineralization genes. Although these are characterized by lineage-specific proteins and unique combinations of co-opted genes, a small set of protein domains have been identified as a conserved biomineralization tool box. We further highlight the use of sequence data sets in providing candidate genes forin situlocalization and protein function studies. The former has elucidated gene expression modularity in mantle tissue, improving understanding of the diversity of shell morphology synthesis. RNA interference (RNAi) and clustered regularly interspersed short palindromic repeats - CRISPR-associated protein 9 (CRISPR-Cas9) experiments have provided proof of concept for use in the functional investigation of mollusc gene sequences, showing for example that Pif (aragonite-binding) protein plays a significant role in structured nacre crystal growth and that theLsdia1gene sets shell chirality inLymnaea stagnalis. Much research has focused on the impacts of ocean acidification on molluscs. Initial studies were predominantly pessimistic for future molluscan biodiversity. However, more sophisticated experiments incorporating selective breeding and multiple generations are identifying subtle effects and that variability within mollusc genomes has potential for adaption to future conditions. Furthermore, we highlight recent historical studies based on museum collections that demonstrate a greater resilience of molluscs to climate change compared with experimental data. The future of mollusc research lies not solely with ecological investigations into biodiversity, and this review synthesizes knowledge across disciplines to understand biomineralization. It spans research ranging from evolution and development, through predictions of biodiversity prospects and future-proofing of aquaculture to identifying new biomimetic opportunities and societal benefits from recycling shell products.
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| 2. |
- Spagnuolo, R., et al.
(author)
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Deregulation of SGK1 in Ulcerative Colitis: A Paradoxical Relationship Between Immune Cells and Colonic Epithelial Cells
- 2018
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In: Inflammatory Bowel Diseases. - : Oxford University Press (OUP). - 1078-0998 .- 1536-4844. ; 24:9, s. 1967-1977
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Journal article (peer-reviewed)abstract
- Background: Inflammatory bowel disease (IBD) is due to the interaction of genetic and environmental factors that trigger an unbalanced immune response ultimately resulting in the peculiar inflammatory reaction. Experimental models of IBD point to a role of T-cell-derived cytokines (Th17) and to SGK1 as mediator of the Th17 switch. We hypothesize that SGK1, a salt inducible kinase, directs lymphocytic behavior and tissue damage. Methods: Eleven controls and 32 ulcerative colitis (UC) patients were randomized according to endoscopic Mayo score. Mucosal biopsies from different intestinal tracts were analyzed by immunohistochemistry and quantitative real-time polymerase chain reaction to check the expression of disease markers including SGK1. Peripheral blood mononuclear cells (PBMCs) from patients and controls were analyzed by fluorescence-activated cell sorting. Finally, an in vitro cell model was developed to test the hypothesis. Results: SGK1 mRNA and protein expression in lesional areas of UC patients were lower than in normal peri-lesional areas of the same patients and in normal tissues of healthy controls. SGK1 expression was increased in PBMCs from UC patients, particularly in the CD4+ cell population, enriched in Th17 cells. IL17/IL13 was increased in patients and correlated with SGK1 expression. Genetically engineered Jurkat cells confirmed the effect of SGK1 overexpression on viability of RKO cells. Conclusions: These observations suggest a pathogenic mechanism whereby SGK1 overexpression in CD4+ T cells induces the secretion of the inflammatory cytokines IL17 and IL13, which downregulate the expression of SGK1 in target tissues. Our data suggest a novel hypothesis in the pathogenesis of UC, integrating colonic epithelial cells and lymphocytes.
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| 3. |
- Strömland, Kerstin, 1934, et al.
(author)
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Fetal Alcohol Spectrum Disorders among Children in a Brazilian Orphanage
- 2015
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In: Birth Defects Research Part a-Clinical and Molecular Teratology. - : Wiley. - 1542-0752. ; 103:3, s. 178-185
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Journal article (peer-reviewed)abstract
- Background: The objective was to investigate the frequency of fetal alcohol spectrum disorders (FASD) and ophthalmologic anomalies in orphanage children in Brazil. Methods: A prospective study was performed on 94 children living in an orphanage in Brazil. The children were examined by a multidisciplinary team consisting of specialists in pediatrics, neurology, psychology, neuropsychiatry, and ophthalmology. Results: The main reasons for living in the orphanage, in 61% of the children, were negligence, child abuse, and abandonment. Of all the children studied, 50% had mothers with known alcohol abuse and 47% had one or more diagnoses of neurodevelopmental/behavioral and/or cognitive deficits. General developmental delay was found in 18%, intellectual disability in 3%, cognitive impairment in 27%, attention-deficit/hyperactivity disorder in 14%, and autism in 3%. Altogether 17% had FASD, comprising three children with fetal alcohol syndrome (FAS), six with partial FAS, and seven with alcohol-related neurodevelopmental disorder. 16% had ophthalmological findings such as poor vision, strabismus, and dysmorphology of the optic nerves. Twenty-eight children (30%) were adopted from the orphanage; of these, six had FASD (two FAS, three partial FAS, one alcohol-related neurodevelopmental disorder), five had attention-deficit/hyperactivity disorder, and eight had developmental delay. Conclusion: Nearly half of the children living in the orphanage had neurodevelopmental disorders and a considerable number showed signs of damage from prenatal alcohol exposure. A broader look at the problem of FASD in Brazil and other South American countries is desirable to document the burden of disease and provide data for targeting prevention efforts. Birth Defects Research (Part A) 103:178-185, 2015. (c) 2014 Wiley Periodicals, Inc.
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| 4. |
- Ventura, F., et al.
(author)
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Beyond effectiveness evaluation: Contributing to the discussion on complexity of digital health interventions with examples from cancer care
- 2022
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In: Frontiers in Public Health. - : Frontiers Media SA. - 2296-2565. ; 10
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Journal article (peer-reviewed)abstract
- Digital health interventions (DHIs) have become essential complementary solutions in health care to enhance support and communication at a distance, with evidence of improving patient outcomes. Improving clinical outcomes is a major determinant of success in any health intervention, influencing its funding, development, adoption and implementation in real-world practice. In this article we explore our experiences of developing and testing DHIs to identify and discuss complexity challenges along their intervention research lifecycle. Informed by the case study research approach, we selected three individual DHIs aimed at satisfying the supportive and educational needs of people living with cancer. The Care Expert, the Digi-Do and the Gatapp were underpinned on different complexity frameworks i.e., the Medical Research Council framework and the Non-adoption, Abandonment, Scale-up, Spread and Sustainability framework. This variance on the methodological underpinning was expected to prompt a multifaceted discussion on the complexity dimensions endorsed by each of the frameworks. Our discussion endorses the adoption of mixed-methods research designs, to gather the perspectives of stakeholders and end-users, as well as pragmatic evaluation approaches that value effectiveness outcomes as much as process outcomes. Furthermore, the dissemination and sustainability agenda of DHIs needs to be considered from early-stage development with the inclusion of a business model. This business plan should be worked in partnership with healthcare services, regulatory bodies and industry, aiming to assure the management of the DHI throughout time.
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| 5. |
- Ventura, F., et al.
(author)
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Portuguese translation, cultural adaptation, and validation of the Person-Centred Practice Inventory - Staff (PCPI-S)
- 2023
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In: Ciencia & Saude Coletiva. - 1413-8123. ; 28:11, s. 3347-3366
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Journal article (peer-reviewed)abstract
- Aiming to translate, culturally adapt, and psychometrically evaluate the Person-centred Practice Inventory - Staff (PCPI-S) for Portuguese healthcare professionals, this methodological study was conducted sequentially in two phases. Phase I followed the 10-steps recommendations from the ISPOR taskforce for translation and cultural adaptation of patient reported outcome measures. Phase II comprised a quantitative cross-sectional virtual survey of the translated PCPI-S with healthcare professionals, who were reached through snowball sampling from both primary and specialized care settings. The psychometric properties of the PCPI-S were determined by assessing reliability and construct validity. A sample of 304 healthcare professionals participated in Phase II. Ceiling effects were found. The overall internal consistency was excellent (> 0.9). The confirmatory factor analysis showed a good model fit after minor modifications, revealing construct validity, and supporting the theoretical framework. In conclusion, the three-factorial model of PCPI-S adjusted to the studied sample is a valid and reliable instrument to assess the perceptions of healthcare professionals on person-centred practice in various Portuguese clinical contexts. Considering the ceiling effects, the effect of social desirability should be explored.
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