Publications by authors named "Scott Richard"

We study the general periodic motion of a set of three point vortices in the plane, as well as the potentially chaotic motion of one or more tracer particles. While the motion of three vortices is simple in that it can only be periodic, the actual orbits can be surprisingly complex and varied. This rich behavior arises from the existence of both co-linear and equilateral relative equilibria (steady motion in a rotating frame of reference).

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Purpose: As part of the 100,000 Genomes Project, we set out to assess the potential viability and clinical impact of reporting genetic variants associated with drug-induced toxicity for patients with cancer recruited for whole-genome sequencing (WGS) as part of a genomic medicine service.

Methods: Germline WGS from 76,805 participants was analyzed for pharmacogenetic (PGx) variants in four genes (, , , ) associated with toxicity induced by five drugs used in cancer treatment (capecitabine, fluorouracil, mercaptopurine, thioguanine, irinotecan). Linking genomic data with prescribing and hospital incidence records, a phenome-wide association study (PheWAS) was performed to identify whether phenotypes indicative of adverse drug reactions (ADRs) were enriched in drug-exposed individuals with the relevant PGx variants.

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Article Synopsis
  • The quality of female eggs is crucial to reproductive lifespan, heavily influenced by the presence of the right number of chromosomes (euploidy), with common errors in meiosis leading to egg aneuploidy.
  • Researchers used a genetic biobank to identify 404 genes associated with higher rates of egg aneuploidy, highlighting the role of the kinesin protein family in this process.
  • They demonstrated that specific genetic variants in kinesin genes can cause increased aneuploidy in mouse eggs and validated that certain variants accelerate reproductive aging, paving the way for potential noninvasive biomarkers to assess egg quality in fertility medicine.
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Introduction: District hospitals in KwaZulu-Natal Province, South Africa, do not have onsite specialist dermatology services. Doctors at these hospitals use WhatsApp instant messaging to informally seek advice from dermatologists and colleagues before possible referral. They have expressed the need to formalise WhatsApp teledermatology.

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Background: As opportunities grow for resource-constrained countries to use eHealth (digital health) to strengthen health systems, a dilemma arises. Wise eHealth investments require adequate appraisal to address opportunity costs. Economic appraisal techniques conventionally utilised for this purpose require sufficient economic expertise and adequate data that are frequently in short supply in low- and middle-income countries.

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Article Synopsis
  • Scientists are collecting a lot of genetic information from many people around the world to help improve medicine and health care for everyone.
  • To make the most out of this data, we need to work together and make it easier to share it safely and fairly.
  • The article talks about ways to get better at sharing this data, including using new technology and engaging with communities, and suggests 12 important steps we can all take to make this happen.
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Purpose And Scope: The aim of this position statement is to provide recommendations regarding the delivery of genomic testing to patients with rare disease in the UK and Ireland. The statement has been developed to facilitate timely and equitable access to genomic testing with reporting of results within commissioned turnaround times.

Methods Of Statement Development: A 1-day workshop was convened by the UK Association for Clinical Genomic Science and attended by key stakeholders within the NHS Genomic Medicine Service, including clinical scientists, clinical geneticists and patient support group representatives.

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The countercurrent opinion given in this paper is that the optimal management of frozen embryo transfers (FET) is not a one-size-fits-all matter, but rather one that should be decided after considering all the various parameters and options. This choice should notably encompass patients' individual characteristics - including variable risks of obstetric complications - and weigh out the respective advantages of each FET option in each case. While there may be real advantages for natural-cycle FET in many cases, these need to be balanced against both practical and clinical issues.

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Unlabelled: The intersectional risks of children in United States immigrant communities include environmental exposures. Pesticide exposures and their biological outcomes are not well characterized in this population group. We assessed pesticide exposure and related these exposures to DNA double-strand breaks (DSBs) in Latinx children from rural, farmworker families (FW;  = 30) and from urban, non-farmworker families (NFW;  = 15) living in North Carolina.

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Article Synopsis
  • - The female reproductive lifespan is influenced by egg quality, particularly the condition of chromosomes in eggs (euploidy) versus abnormalities (aneuploidy).
  • - Researchers analyzed genetic data from mothers to pinpoint 404 genes associated with high rates of egg aneuploidy, highlighting the role of kinesin protein family genes in this risk.
  • - Experimental studies in mice confirmed that specific variants in kinesin genes lead to increased egg aneuploidy and faster reproductive aging, opening up possibilities for non-invasive egg quality assessments in fertility treatments.
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Recent advances in preimplantation genetic testing for aneuploidy (PGT-A) have significantly enhanced its application in ART, providing critical insights into embryo viability, and potentially reducing both the time spent in fertility treatments and the risk of pregnancy loss. With the integration of next-generation sequencing, PGT-A now offers greater diagnostic precision, although challenges related to segmental aneuploidies and mosaicism remain. The emergence of non-invasive PGT-A (niPGT-A), which analyzes DNA in spent embryo culture media, promises a simpler aneuploidy screening method.

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Study Question: Does intraovarian platelet-rich plasma (PRP) injection increase the number of mature oocytes obtained after controlled ovarian stimulation (COS) in young women with poor ovarian response (POR) undergoing IVF?

Summary Answer: Intraovarian PRP injection procedure does not improve mature oocyte yield after COS in women less than 38 years old with an established IVF history of POR.

What Is Known Already: POR is frequently encountered among the infertile population and the number of women seeking infertility treatment related to POR is increasing. Effective treatment options for this patient population to conceive with autologous oocytes are lacking.

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We recently developed compound FC-7269 for targeting the Molluscum contagiosum virus processivity factor (mD4) and demonstrated its ability to inhibit viral processive DNA synthesis in vitro and cellular infection of an mD4-dependent virus (Antiviral Res 211, 2023,105520). However, despite a thorough medicinal chemistry campaign we were unable to generate a potent second analog as a requisite for drug development. We overcame this impasse, by conjugating a short hydrophobic trivaline peptide to FC-7269 to produce FC-TriVal-7269 which significantly increased antiviral potency and reduced cellular toxicity.

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To understand how chemical exposure can impact health, researchers need tools that capture the complexities of personal chemical exposure. In practice, fine particulate matter (PM) air quality index (AQI) data from outdoor stationary monitors and Hazard Mapping System (HMS) smoke density data from satellites are often used as proxies for personal chemical exposure, but do not capture total chemical exposure. Silicone wristbands can quantify more individualized exposure data than stationary air monitors or smoke satellites.

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Both spontaneously conceived pregnancies and those achieved using assisted reproduction decline with advancing maternal age. In this study, we tested if rapamycin and/or cumulus cells (CCs) from young donors could improve oocyte maturation and euploidy rates of germinal vesicle (GV) stage oocytes obtained from older women of reproductive age. A total of 498 GVs from 201 women >38 years (40.

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Article Synopsis
  • Polycyclic aromatic hydrocarbons (PAHs) are common environmental pollutants linked to various health issues, but understanding their specific sources of exposure is still limited.
  • This study focuses on a New York birth cohort to identify personal characteristics and behaviors that could help predict individual PAH exposure levels.
  • Key findings indicate that factors such as income, time spent outdoors, maternal age, country of birth, transportation type, and season are significant predictors of PAH exposure among pregnant individuals.
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Background: PreciseDx Breast (PDxBr) is a digital test that predicts early-stage breast cancer recurrence within 6-years of diagnosis.

Materials And Methods: Using hematoxylin and eosin-stained whole slide images of invasive breast cancer (IBC) and artificial intelligence-enabled morphology feature array, microanatomic features are generated. Morphometric attributes in combination with patient's age, tumor size, stage, and lymph node status predict disease free survival using a proprietary algorithm.

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