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1.
Adv Sci (Weinh) ; 10(32): e2302652, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37787152

RESUMO

Modern paints and coatings are designed for a variety of applications, ranging from fine art to extraterrestrial thermal control. These systems can be engineered to provide lasting color, but there are a limited number of materials that can undergo transient changes in their visual appearance in response to external stimuli without requirements for advanced fabrication strategies. The authors describe color-changing paint formulations that leverage the redox-dependent absorption profile of xanthommatin, a small-molecule colorant found throughout biology, and the electronic properties of titanium dioxide, a ubiquitous whitening agent in commercial coatings. This combination yields reversible photoreduction upon exposure to sunlight, shifting from the oxidized (yellow) form of xanthommatin, to the reduced (red) state. The extent of photoreduction is dependent on the loading density and size of titanium dioxide particles, generating changes in hue angle as large as 77% upon irradiation. These coatings can be blended with non-responsive supplemental colorants to expand the accessible color palette, and irradiated through masks to create transient, disappearing artwork. These formulations demonstrate energy-efficient photochromism using a simple combination of a redox-active dye and metal oxide semiconductor, highlighting the utility of these materials for the development of optically dynamic light-harvesting materials.

2.
EBioMedicine ; 95: 104759, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37619450

RESUMO

BACKGROUND: Hip minimum joint space width (mJSW) provides a proxy for cartilage thickness. This study aimed to conduct a genome-wide association study (GWAS) of mJSW to (i) identify new genetic determinants of mJSW and (ii) identify which mJSW loci convey hip osteoarthritis (HOA) risk and would therefore be of therapeutic interest. METHODS: GWAS meta-analysis of hip mJSW derived from plain X-rays and DXA was performed, stratified by sex and adjusted for age and ancestry principal components. Mendelian randomisation (MR) and cluster analyses were used to examine causal effect of mJSW on HOA. FINDINGS: 50,745 individuals were included in the meta-analysis. 42 SNPs, which mapped to 39 loci, were identified. Mendelian randomisation (MR) revealed little evidence of a causal effect of mJSW on HOA (ORIVW 0.98 [95% CI 0.82-1.18]). However, MR-Clust analysis suggested the null MR estimates reflected the net effect of two distinct causal mechanisms cancelling each other out, one of which was protective, whereas the other increased HOA susceptibility. For the latter mechanism, all loci were positively associated with height, suggesting mechanisms leading to greater height and mJSW increase the risk of HOA in later life. INTERPRETATIONS: One group of mJSW loci reduce HOA risk via increased mJSW, suggesting possible utility as targets for chondroprotective therapies. The second group of mJSW loci increased HOA risk, despite increasing mJSW, but were also positively related to height, suggesting they contribute to HOA risk via a growth-related mechanism. FUNDING: Primarily funded by the Medical Research Council and Wellcome Trust.


Assuntos
Estudo de Associação Genômica Ampla , Osteoartrite do Quadril , Humanos , Osteoartrite do Quadril/diagnóstico por imagem , Osteoartrite do Quadril/genética , Articulações , Análise por Conglomerados , Análise da Randomização Mendeliana
3.
Invest Ophthalmol Vis Sci ; 64(10): 14, 2023 Jul 03.
Artigo em Inglês | MEDLINE | ID: mdl-37440261

RESUMO

Purpose: The aim of this systematic review was to investigate the available data on the epidemiology of oculocutaneous albinism (OCA) around the world, and to determine whether a generalizable, worldwide prevalence figure could be proposed. Methods: Extensive literature search strategies were conducted, interrogating PubMed, Scopus, and Web of Science, to locate relevant literature. Ultimately 34 studies reporting original data were included for analysis. Results: Findings showed that most data were outdated, and only 6 of 34 articles (18%) were published after 2010. There were few good studies with sound methodology and large, clearly defined population samples. Only a small proportion of countries worldwide (26/193 [13%]) have produced prevalence figures for OCA. By continent, African studies were disproportionately represented (15/34 [44%]). The highest prevalence rates (range, 1 in 22 to 1 in 1300; mean, 1 in 464) were reported in population isolates. The mean prevalence from four African countries was 1 in 4264 (range, 1 in 1755 to 1 in 7900). Prevalence for three countries in Europe (mean, 1 in 12,000; range, 1 in 10,000 to 1 in 15,000) may be underestimated, as the phenotype, in fair-skinned populations, may be missed or misdiagnosed as ocular albinism or isolated visual impairment. Population rates may vary depending on local cultural factors (e.g., consanguineous matings) and may change over time. Conclusions: The prevalence of OCA varies widely between continents and population groups, and it is often influenced by local factors. It was not possible, therefore, to determine a single, generalizable worldwide prevalence rate for OCA, although continental rates for Africa and Europe are useful.


Assuntos
Albinismo Ocular , Albinismo Oculocutâneo , Humanos , Mutação , Prevalência , Albinismo Oculocutâneo/epidemiologia , Albinismo Oculocutâneo/diagnóstico , Fenótipo , Albinismo Ocular/epidemiologia , Albinismo Ocular/genética
4.
Front Genet ; 14: 1137922, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37234869

RESUMO

Objective: Genetic variants cause a significant portion of developmental disorders and intellectual disabilities (DD/ID), but clinical and genetic heterogeneity makes identification challenging. Compounding the issue is a lack of ethnic diversity in studies into the genetic aetiology of DD/ID, with a dearth of data from Africa. This systematic review aimed to comprehensively describe the current knowledge from the African continent on this topic. Method: Applicable literature published up until July 2021 was retrieved from PubMed, Scopus and Web of Science databases, following PRISMA guidelines, focusing on original research reports on DD/ID where African patients were the focus of the study. The quality of the dataset was assessed using appraisal tools from the Joanna Briggs Institute, whereafter metadata was extracted for analysis. Results: A total of 3,803 publications were extracted and screened. After duplicate removal, title, abstract and full paper screening, 287 publications were deemed appropriate for inclusion. Of the papers analysed, a large disparity was seen between work emanating from North Africa compared to sub-Saharan Africa, with North Africa dominating the publications. Representation of African scientists on publications was poorly balanced, with most research being led by international researchers. There are very few systematic cohort studies, particularly using newer technologies, such as chromosomal microarray and next-generation sequencing. Most of the reports on new technology data were generated outside Africa. Conclusion: This review highlights how the molecular epidemiology of DD/ID in Africa is hampered by significant knowledge gaps. Efforts are needed to produce systematically obtained high quality data that can be used to inform appropriate strategies to implement genomic medicine for DD/ID on the African continent, and to successfully bridge healthcare inequalities.

5.
J Org Chem ; 86(21): 15085-15095, 2021 11 05.
Artigo em Inglês | MEDLINE | ID: mdl-34641678

RESUMO

1H NMR spectroscopy is a powerful tool for the conformational analysis of ortho-phenylene foldamers in solution. However, as o-phenylenes are integrated into ever more complex systems, we are reaching the limits of what can be analyzed by 1H- and 13C-based NMR techniques. Here, we explore fluorine labeling of o-phenylene oligomers for analysis by 19F NMR spectroscopy. Two series of fluorinated oligomers have been synthesized. Optimization of monomers for Suzuki coupling enables an efficient stepwise oligomer synthesis. The oligomers all adopt well-folded geometries in solution, as determined by 1H NMR spectroscopy and X-ray crystallography. 19F NMR experiments complement these methods well. The resolved singlets of one-dimensional 19F{1H} spectra are very useful for determining relative conformer populations. The additional information from two-dimensional 19F NMR spectra is also clearly valuable when making 1H assignments. The comparison of 19F isotropic shielding predictions to experimental chemical shifts is not, however, currently sufficient by itself to establish o-phenylene geometries.


Assuntos
Fluoretos , Flúor , Cristalografia por Raios X , Espectroscopia de Ressonância Magnética , Conformação Molecular
6.
Clin Case Rep ; 9(4): 2144-2148, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33936654

RESUMO

First reported case of Takenouchi-Kosaki syndrome in an African patient with a de novo likely pathogenic missense variant identified in the CDC42 gene.

7.
Sports Health ; 10(3): 228-233, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29272209

RESUMO

BACKGROUND: Outcomes after anterior cruciate ligament reconstruction (ACLR) are highly variable. Previous studies have failed to report the relationship between fear, objective measures of function, and reinjury rates. The purpose of this study was to determine whether fear was related to functional performance measures and risk of second ACL injury after ACLR and return to sport (RTS). HYPOTHESIS: Fear will be associated with performance on functional testing and second ACL injury rate. STUDY DESIGN: Prospective cohort study. LEVEL OF EVIDENCE: Level 2. METHODS: A total of 40 patients cleared to RTS after ACLR completed the Tampa Scale of Kinesiophobia (TSK-11), hop testing, and quadriceps strength testing, bilaterally. Patients were tracked for 12 months after RTS to identify the incidence of second ACL injury. Chi-square analyses determined whether patients with high fear (TSK-11, ≥17) were more likely to have lower levels of activity, greater asymmetry on functional testing, and higher reinjury rates. RESULTS: Patients with greater fear on the TSK-11 (≥17) at RTS were 4 times (odds ratio [OR], 3.73; 95% CI, 0.98-14.23) more likely to report lower levels of activity, 7 times (OR, 7.1; 95% CI, 1.5-33.0) more likely to have a hop limb symmetry lower than 95%, and 6 times (OR, 6.0; 95% CI, 1.3-27.8) more likely to have quadriceps strength symmetry lower than 90%. Patients who went on to suffer an ipsilateral second ACL injury had a greater TSK-11 score at the time of RTS (mean, 19.8 ± 4.0) than those who did not suffer a second ACL injury (mean, 16.4 ± 3.6) ( P = 0.03). Patients with a TSK-11 score of 19 or greater at the time of RTS were 13 times (relative risk, 13.0; 95% CI, 2.1-81.0) more likely to suffer a second ACL tear within 24 months after RTS. CONCLUSION: Patients with greater self-reported fear were less active, presented with lower single-leg hop performance and isometric quadriceps strength, and had an increased risk of suffering a second ACL injury in the 24 months after RTS. CLINICAL RELEVANCE: Self-reported fear of movement/reinjury after ACLR at the time of RTS may be an important measure to incorporate into discharge criteria prior to release to return to pivoting and cutting sports after ACLR.


Assuntos
Lesões do Ligamento Cruzado Anterior/psicologia , Lesões do Ligamento Cruzado Anterior/cirurgia , Traumatismos em Atletas/psicologia , Traumatismos em Atletas/cirurgia , Medo , Volta ao Esporte , Adolescente , Lesões do Ligamento Cruzado Anterior/fisiopatologia , Reconstrução do Ligamento Cruzado Anterior , Traumatismos em Atletas/fisiopatologia , Humanos , Força Muscular/fisiologia , Projetos Piloto , Estudos Prospectivos , Músculo Quadríceps/fisiologia , Recidiva , Fatores de Risco , Autorrelato
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