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"Gardner, R"
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Maternal polycystic ovary syndrome and the risk of autism spectrum disorders in the offspring: a population-based nationwide study in Sweden
Although many studies indicate the interplay of genetic and environmental factors in the etiology of autism spectrum disorder (ASD), our limited understanding of the underlying mechanisms hampers the development of effective ways of detecting and preventing the disorder. Recent studies support the hypothesis that prenatal androgen exposure contributes to the development of ASD. This would suggest that maternal polycystic ovary syndrome (PCOS), a condition associated with excess androgens, would increase the risk of ASD in the offspring. We conducted a matched case–control study nested within the total population of Sweden (children aged 4–17 who were born in Sweden from 1984 to 2007). The sample consisted of 23 748 ASD cases and 208 796 controls, matched by birth month and year, sex and region of birth. PCOS and ASD were defined from ICD codes through linkage to health-care registers. Maternal PCOS increased the odds of ASD in the offspring by 59%, after adjustment for confounders (odds ratio (OR) 1.59, 95% confidence interval (CI) 1.34–1.88). The odds of offspring ASD were further increased among mothers with both PCOS and obesity, a condition common to PCOS that is related to more severe hyperandrogenemia (OR 2.13, 95% CI 1.46–3.10). Risk estimates did not differ between sexes. In conclusion, children of women with PCOS appear to have a higher risk of developing ASD. This finding awaits confirmation, and exploration of potentially underlying mechanisms, including the role of sex steroids in the etiology of ASD.
Journal Article
Down these strange streets
A collection of seventeen short urban fantasy stories by various authors featuring vampires, werewolves, witches, zombies, and other creatures of the night.
Book
Promise and Progress of an HIV-1 Cure by Adeno-Associated Virus Vector Delivery of Anti-HIV-1 Biologics
Despite the success of antiretroviral therapy (ART) at suppressing HIV-1 infection, a cure that eradicates all HIV-1-infected cells has been elusive. The latent viral reservoir remains intact in tissue compartments that are not readily targeted by the host immune response that could accelerate the rate of reservoir decline during ART. However, over the past decade, numerous broadly neutralizing antibodies (bNAbs) have been discovered and characterized. These bNAbs have also given rise to engineered antibody-like inhibitors that are just as or more potent than bNAbs themselves. The question remains whether bNAbs and HIV-1 inhibitors will be the effective \"kill\" to a shock-and-kill approach to eliminate the viral reservoir. Additional research over the past few years has sought to develop recombinant adeno-associated virus (rAAV) vectors to circumvent the need for continual administration of bNAbs and maintain persistent expression in a host. This review discusses the advancements made in using rAAV vectors for the delivery of HIV-1 bNAbs and inhibitors and the future of this technology in HIV-1 cure research. Numerous groups have demonstrated with great efficacy that rAAV vectors can successfully express protective concentrations of bNAbs and HIV-1 inhibitors. Yet, therapeutic concentrations, especially in non-human primate (NHP) models, are not routinely achieved. As new studies have been reported, more challenges have been identified for utilizing rAAV vectors, specifically how the host immune response limits the attainable concentrations of bNAbs and inhibitors. The next few years should provide improvements to rAAV vector delivery that will ultimately show whether they can be used for expressing bNAbs and HIV-1 inhibitors to eliminate the HIV-1 viral reservoir.
Journal Article
The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients
Hydatidiform mole is an aberrant human pregnancy characterized by early embryonic arrest and excessive trophoblastic proliferation. Recurrent hydatidiform moles are defined by the occurrence of at least two hydatidiform moles in the same patient. Fifty to eighty percent of patients with recurrent hydatidiform moles have biallelic pathogenic variants in NLRP7 or KHDC3L. However, in the remaining patients, the genotypic types of the moles are unknown. We characterized 80 new hydatidiform mole tissues, 57 of which were from patients with no mutations in the known genes, and we reviewed the genotypes of a total of 123 molar tissues. We also reviewed mutation analysis in 113 patients with recurrent hydatidiform moles. While all hydatidiform moles from patients with biallelic NLRP7 or KHDC3L mutations are diploid biparental, we demonstrate that those from patients without mutations are highly heterogeneous and only a small minority of them are diploid biparental (8%). The other mechanisms that were found to recur in patients without mutations are diploid androgenetic monospermic (24%) and triploid dispermic (32%); the remaining hydatidiform moles were misdiagnosed as moles due to errors in the analyses and/or their unusual mechanisms. We compared three parameters of genetic susceptibility in patients with and without mutations and show that patients without mutations are mostly from non-familial cases, have fewer reproductive losses, and more live births. Our data demonstrate that patients with recurrent hydatidiform moles and no mutations in the known genes are, in general, different from those with mutations; they have a milder genetic susceptibility and/or a multifactorial etiology underlying their recurrent hydatidiform moles. Categorizing these patients according to the genotypic types of their recurrent hydatidiform moles may facilitate the identification of novel genes for this entity.
Journal Article
The year's best science fiction : thirty-fifth annual collection
Presents some of the best science fiction short stories written in 2017.
Book
Increasing intensity directly increases the perceived warmth of primary colors
There is a long history of linking the perceptions of temperature and color (the “Hue-heat hypothesis”): red (R) and yellow (Y) are often considered warm, whereas blue (B) and green (G) are cool. Past studies, however, have largely used relatively broad-band light at a fixed intensity to test these relations. We tested whether increasing the intensity of highly saturated primary colors would lead to a concomitant change in the perceived temperature of those colors. 20 young healthy participants (
M
= 24.80±3.53 years; 45% female; 5% Hispanic; 45% non-White) with normal color vision were tested. An optical system with a Xenon-arc light source, chromatic filters (peak l = 465, 530, 572, 652 nm), and a circular neutral density wedge to vary intensity were used (5 intensity levels). Temperature perception was assessed using an ordinal scale from – 5 (coolest) to + 5 (warmest). The order of the colors used and the intensity levels were varied randomly. Considering the average across intensity levels, B (-1.87) and G (+ 1.09) were considered the coolest, whereas Y (+ 2.1) and R (+ 3.75) were considered the warmest colors. All colors, however, warmed with increasing intensity. A linear regression fit to the averaged data across luminance explained the majority of the variance: B (r
2
= 0.78), Y (r
2
= 0.93), G (r
2
= 0.98), and R (r
2
= 0.92). Consistent with past data, our results show that color is significantly linked with temperature perception. Increasing the luminance of colors, however, strongly shifts the perception toward increased warmth.
Journal Article
The very best of the best : 35 years of the Year's Best Science Fiction
\"For the first time in a decade, a compilation of the very best in science fiction, from a world authority on the genre. For decades, the Year's Best Science Fiction has been the most widely read short science fiction anthology of its kind. Now, after thirty-five annual collections. comes the ultimate in science fiction anthologies. In The Very Best of the Best, legendary editor Gardner Dozois selects the finest short stories for this landmark collection.\"--Publisher's description.
Book
Developing the INCLUDE Ethnicity Framework—a tool to help trialists design trials that better reflect the communities they serve
Background
Ensuring that a trial is designed so that its participants reflect those who might benefit from the results, or be spared harms, is key to the potential benefits of the trial reaching all they should. This paper describes the process, facilitated by Trial Forge, that was used between July 2019 and October 2020 to develop the INCLUDE Ethnicity Framework, part of the wider INCLUDE initiative from the National Institute for Health Research to improve inclusion of under-served groups in clinical research studies.
Methods
Development of the Framework was done in seven phases: (1) outline, (2) initial draft, (3) stakeholder meeting, (4) modify draft, (5) Stakeholder feedback, (6) applying the Framework and (7) packaging. Phases 2 and 3 were face-to-face meetings. Consultation with stakeholders was iterative, especially phases 4 to 6. Movement to the next phase was done once all or most stakeholders were comfortable with the results of the current phase. When there was a version of the Framework that could be considered final, the Framework was applied to six trials to create a set of examples (phase 6). Finally, the Framework, guidance and examples were packaged ready for dissemination (phase 7).
Results
A total of 40 people from stakeholder groups including patient and public partners, clinicians, funders, academics working with various ethnic groups, trial managers and methodologists contributed to the seven phases of development. The Framework comprises two parts. The first part is a list of four key questions:
Who should my trial apply to?
Are the groups identified likely to respond in different ways?
Will my study intervention make it harder for some groups to engage?
Will the way I have designed the study make it harder for some groups to engage?
The second part is a set of worksheets to help trial teams address these questions. The Framework can be used for any stage of trial, for a healthcare intervention in any disease area. The Framework was launched on 1st October 2020 and is available open access at the Trial Forge website:
https://www.trialforge.org/trial-forge-centre/include/
.
Conclusion
Thinking about the number of people in our trials is not enough: we need to start thinking more carefully about
who
our participants are.
Journal Article