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1.
Nature ; 2024 Jun 11.
Article in English | MEDLINE | ID: mdl-38862026

ABSTRACT

Human spaceflight has historically been managed by government agencies, such as the NASA Twins Study1, but new commercial spaceflight opportunities have opened spaceflight to a broader population. In 2021, the SpaceX Inspiration4 mission launched the first-ever all civilian crew to low Earth orbit, which included the youngest American astronaut (age 29), novel in-flight experimental technologies (handheld ultrasound imaging, smartwatch wearables, and immune profiling), ocular alignment measurements, and new protocols for in-depth, multi-omic molecular and cellular profiling. Here we report the primary findings from the 3-day spaceflight mission, which induced a broad range of physiological and stress responses, neurovestibular changes indexed by ocular misalignment, and altered neurocognitive functioning, some of which match long-term spaceflight2, but almost all of which did not differ from baseline (pre-flight) after return to Earth. Overall, these preliminary civilian spaceflight data suggest that short-duration missions do not pose a significant health risk, and moreover present a rich opportunity to measure the earliest phases of adaptation to spaceflight in the human body at anatomical, cellular, physiologic, and cognitive levels. Finally, these methods and results lay the foundation for an open, rapidly expanding biomedical database for astronauts3, which can inform countermeasure development for both private and government-sponsored space missions.

2.
J Hazard Mater ; 472: 134463, 2024 Jul 05.
Article in English | MEDLINE | ID: mdl-38723486

ABSTRACT

Per- and polyfluoroalkyl substances (PFAS) are a class of toxic manufactured chemicals in commercial and consumer products. They are resistant to environmental degradation and mobile in soil, air, and water. This study used the introduced bivalve Corbicula fluminea as a passive biomonitor at sampling locations in a primary drinking water source in Virginia, USA. Many potential PFAS sources were identified in the region. Perfluorohexane sulfonate (PFHxS) and 6:2 fluorotelomer sulfonic acid (6:2 FTS) levels were highest downstream of an airport. The highest levels of short-chain carboxylic acids were in locations downstream of a wastewater treatment plant. Measured PFAS concentrations varied by location in C. fluminea, sediment, and surface water samples. Two compounds were detected across all three mediums. Calculated partitioning coefficients confirm bioaccumulation of PFAS in C. fluminea and sorption to sediment. C. fluminea bioaccumulated two PFAS not found in the other mediums. Perfluoroalkyl carboxylic acids and short-chain compounds dominated in clam tissue, which contrasts with findings of accumulation of longer-chain and perfluorosulfonic acids in fish. These findings suggest the potential for using bivalves to complement other organisms to better understand the bioaccumulation of PFAS and their fate and transport in a freshwater ecosystem.


Subject(s)
Corbicula , Fluorocarbons , Water Pollutants, Chemical , Animals , Water Pollutants, Chemical/analysis , Fluorocarbons/analysis , Corbicula/metabolism , Corbicula/chemistry , Environmental Monitoring/methods , Geologic Sediments/chemistry , Geologic Sediments/analysis , Biological Monitoring , Virginia
3.
J Minim Access Surg ; 2024 Jan 09.
Article in English | MEDLINE | ID: mdl-38214295

ABSTRACT

ABSTRACT: Endoscopic thyroidectomy is a minimally invasive surgical approach that has become popular due to its cosmetic advantages and reduced post-operative discomfort. Central to the success of this procedure is the accurate identification of the midline, which becomes a challenge in endoscopic surgeries. We propose a novel method of using methylene blue, a Food and Drug Administration-approved dye, which offers the ability to clearly mark the midline, enhancing orientation and reducing the potential for injury to critical anatomical structures. Although using methylene blue has many benefits, there are drawbacks, including the requirement for intraoperative ultrasonography. Continued research and clinical experience will be critical in improving and extending its use in the field of thyroid surgery.

4.
Ann Biomed Eng ; 52(2): 342-354, 2024 Feb.
Article in English | MEDLINE | ID: mdl-37906375

ABSTRACT

Increased ventilator use during the COVID-19 pandemic resurrected persistent questions regarding mechanical ventilation including the difference between physiological and artificial breathing induced by ventilators (i.e., positive- versus negative-pressure ventilation, PPV vs NPV). To address this controversy, we compare murine specimens subjected to PPV and NPV in ex vivo quasi-static loading and quantify pulmonary mechanics via measures of quasi-static and dynamic compliances, transpulmonary pressure, and energetics when varying inflation frequency and volume. Each investigated mechanical parameter yields instance(s) of significant variability between ventilation modes. Most notably, inflation compliance, percent relaxation, and peak pressure are found to be consistently dependent on the ventilation mode. Maximum inflation volume and frequency note varied dependencies contingent on the ventilation mode. Contradictory to limited previous clinical investigations of oxygenation and end-inspiratory measures, the mechanics-focused comprehensive findings presented here indicate lung properties are dependent on loading mode, and importantly, these dependencies differ between smaller versus larger mammalian species despite identical custom-designed PPV/NPV ventilator usage. Results indicate that past contradictory findings regarding ventilation mode comparisons in the field may be linked to the chosen animal model. Understanding the differing fundamental mechanics between PPV and NPV may provide insights for improving ventilation strategies and design to prevent associated lung injuries.


Subject(s)
Pandemics , Respiratory Mechanics , Humans , Mice , Animals , Respiratory Mechanics/physiology , Lung , Respiration, Artificial/methods , Respiration , Mammals
5.
Braz Dent J ; 34(4): 44-53, 2023.
Article in English | MEDLINE | ID: mdl-37909641

ABSTRACT

This study aimed to evaluate the temperature changes that the different methods of agitation of irrigants promote on the external dental root surface. Nine extracted human lower premolars were standardized by cone-beam computed tomography and used. The root canal was instrumented with a Reciproc 40.06 file. Temperature measurement was performed using K-type thermocouple sensors attached to the middle, cervical, and apical thirds of the teeth. The teeth had their roots immersed in distilled water at 37ºC, which were distributed into 3 experimental groups according to the mechanical agitation methods to be studied. US Group (n=3), Irrisonic Ultrasonic Tip activated through ultrasound; EC Group (n=3), Easyclean Tip coupled to a contra-angle low-speed handpiece; XP Group (n=3), XP-endo Finisher file coupled to an endodontic electrical motor. Temperature measurements were performed simultaneously with agitation and irrigation of intracanal irrigants. Statistical analysis was performed using SPSS software with a significance level of 5%. For multiple comparisons, the Tukey test was used. The association between mechanical agitation methods and root third was statistically significant. Regarding the temperatures recorded on the external surface of the roots, the ultrasonic tip was significantly higher than the XP-endo Finisher file and the Easyclean tip, which did not differ from each other. Regarding the ultrasonic tip, the external temperature in the middle third (39.46ºC) of the root was significantly lower than in the cervical (40.41ºC) and apical third (40.53ºC). None of the agitation methods of irrigants studied presented heating above 47ºC, and their use is safe for periodontal tissues.


Subject(s)
Dental Pulp Cavity , Root Canal Preparation , Humans , Temperature , Root Canal Preparation/methods , Root Canal Irrigants , Root Canal Therapy
6.
Braz. dent. j ; 34(4): 44-53, July-Aug. 2023. tab, graf
Article in English | LILACS-Express | LILACS, BBO - Dentistry | ID: biblio-1520339

ABSTRACT

Abstract This study aimed to evaluate the temperature changes that the different methods of agitation of irrigants promote on the external dental root surface. Nine extracted human lower premolars were standardized by cone-beam computed tomography and used. The root canal was instrumented with a Reciproc 40.06 file. Temperature measurement was performed using K-type thermocouple sensors attached to the middle, cervical, and apical thirds of the teeth. The teeth had their roots immersed in distilled water at 37ºC, which were distributed into 3 experimental groups according to the mechanical agitation methods to be studied. US Group (n=3), Irrisonic Ultrasonic Tip activated through ultrasound; EC Group (n=3), Easyclean Tip coupled to a contra-angle low-speed handpiece; XP Group (n=3), XP-endo Finisher file coupled to an endodontic electrical motor. Temperature measurements were performed simultaneously with agitation and irrigation of intracanal irrigants. Statistical analysis was performed using SPSS software with a significance level of 5%. For multiple comparisons, the Tukey test was used. The association between mechanical agitation methods and root third was statistically significant. Regarding the temperatures recorded on the external surface of the roots, the ultrasonic tip was significantly higher than the XP-endo Finisher file and the Easyclean tip, which did not differ from each other. Regarding the ultrasonic tip, the external temperature in the middle third (39.46ºC) of the root was significantly lower than in the cervical (40.41ºC) and apical third (40.53ºC). None of the agitation methods of irrigants studied presented heating above 47ºC, and their use is safe for periodontal tissues.


Resumo Este estudo teve como objetivo avaliar as mudanças de temperatura que os diferentes métodos de agitação de irrigantes promovem na superfície externa da raiz dentária. Nove pré-molares humanos extraídos foram padronizados por tomografia computadorizada de feixe cônico e usados. O canal radicular foi instrumentado com uma lima Reciproc 40.06 de 25 mm. A medição da temperatura foi realizada usando sensores termopares do tipo K fixados nos terços médio, cervical e apical dos dentes. Os dentes tiveram suas raízes imersas em água destilada a 37ºC, as quais foram distribuídas em 3 grupos experimentais de acordo com os métodos de agitação mecânica a serem estudados. Grupo US (n=3), Ponta Irrisonic Ultrasonic ativado por ultrassom; Grupo EC (n=3), Ponta Easyclean acoplada a um contra-ângulo de baixa rotação; Grupo XP (n=3), Lima XP-endo Finisher acoplada a um motor elétrico endodôntico. As medições de temperatura foram realizadas simultaneamente com agitação e irrigação de irrigantes intracanal. A análise estatística foi realizada no software SPSS com nível de significância de 5%. Para comparações múltiplas, foi utilizado o teste de Tukey. A associação entre métodos de agitação mecânica e terço radicular foi estatisticamente significativa. Em relação às temperaturas registradas na superfície externa das raízes, a ponta ultrassônica foi significativamente maior que a lima XP-endo Finisher e a ponta Easyclean, que não diferiram entre si. Com relação à ponta ultrassônica, a temperatura externa no terço médio (39,46ºC) da raiz foi significativamente menor do que nos terços cervical (40,41ºC) e apical (40,53ºC). Nenhum dos métodos de agitação dos irrigantes estudados (Irrisonic, XP-endo Finisher e Easyclean) apresentou aquecimento acima de 47ºC, sendo seu uso seguro para os tecidos periodontais.

8.
Radiography (Lond) ; 29(4): 792-799, 2023 07.
Article in English | MEDLINE | ID: mdl-37271011

ABSTRACT

INTRODUCTION: Academic integrity among radiographers and nuclear medicine technologists/scientists in both higher education and scientific writing has been challenged by advances in artificial intelligence (AI). The recent release of ChatGPT, a chatbot powered by GPT-3.5 capable of producing accurate and human-like responses to questions in real-time, has redefined the boundaries of academic and scientific writing. These boundaries require objective evaluation. METHOD: ChatGPT was tested against six subjects across the first three years of the medical radiation science undergraduate course for both exams (n = 6) and written assignment tasks (n = 3). ChatGPT submissions were marked against standardised rubrics and results compared to student cohorts. Submissions were also evaluated by Turnitin for similarity and AI scores. RESULTS: ChatGPT powered by GPT-3.5 performed below the average student performance in all written tasks with an increasing disparity as subjects advanced. ChatGPT performed better than the average student in foundation or general subject examinations where shallow responses meet learning outcomes. For discipline specific subjects, ChatGPT lacked the depth, breadth, and currency of insight to provide pass level answers. CONCLUSION: ChatGPT simultaneously poses a risk to academic integrity in writing and assessment while affording a tool for enhanced learning environments. These risks and benefits are likely to be restricted to learning outcomes of lower taxonomies. Both risks and benefits are likely to be constrained by higher order taxonomies. IMPLICATIONS FOR PRACTICE: ChatGPT powered by GPT3.5 has limited capacity to support student cheating, introduces errors and fabricated information, and is readily identified by software as AI generated. Lack of depth of insight and appropriateness for professional communication also limits capacity as a learning enhancement tool.


Subject(s)
Artificial Intelligence , Diagnostic Imaging , Humans , Radiography , Learning , Software
9.
Microb Ecol ; 86(3): 2086-2096, 2023 Oct.
Article in English | MEDLINE | ID: mdl-37088849

ABSTRACT

Bacteria residing in the guts of pollinating insects play a key role in nutrient acquisition, digestion, and resistance to pests and diseases. Imbalances in microbial flora in response to environmental change and stress can therefore impact insect health and resilience. This study is aimed at defining the core gut microbiome of the Australian native stingless bee, Tetragonula carbonaria, and exploring the impact of colony transplantation on gut health. The gut microbiomes of nine forager bees from natural (log) and manufactured (box) hives were examined via 16S rRNA gene amplicon sequencing. Some differences were observed at the ASV level between the microbiomes of log and box hive bees. However, a core microbiome, dominated by Lactobacillus spp., unclassified Acetobacteraceae spp., and Bombella spp., was maintained. Further, the inferred functional potential of the microbiomes was consistent across all individuals. This study highlights that although hive transplantation has an impact on the overall diversity of stingless bee gut microbiomes, it is unlikely to have a significant negative impact on the overall health and resilience of the colony.


Subject(s)
Gastrointestinal Microbiome , Microbiota , Urticaria , Bees , Animals , Australia , RNA, Ribosomal, 16S/genetics
10.
Sci Rep ; 13(1): 4564, 2023 03 20.
Article in English | MEDLINE | ID: mdl-36941463

ABSTRACT

Tissue remodeling in pulmonary disease irreversibly alters lung functionality and impacts quality of life. Mechanical ventilation is amongst the few pulmonary interventions to aid respiration, but can be harmful or fatal, inducing excessive regional (i.e., local) lung strains. Previous studies have advanced understanding of diseased global-level lung response under ventilation, but do not adequately capture the critical local-level response. Here, we pair a custom-designed pressure-volume ventilator with new applications of digital image correlation, to directly assess regional strains in the fibrosis-induced ex-vivo mouse lung, analyzed via regions of interest. We discuss differences between diseased and healthy lung mechanics, such as distensibility, heterogeneity, anisotropy, alveolar recruitment, and rate dependencies. Notably, we compare local and global compliance between diseased and healthy states by assessing the evolution of pressure-strain and pressure-volume curves resulting from various ventilation volumes and rates. We find fibrotic lungs are less-distensible, with altered recruitment behaviors and regional strains, and exhibit disparate behaviors between local and global compliance. Moreover, these diseased characteristics show volume-dependence and rate trends. Ultimately, we demonstrate how fibrotic lungs may be particularly susceptible to damage when contrasted to the strain patterns of healthy counterparts, helping to advance understanding of how ventilator induced lung injury develops.


Subject(s)
Lung Diseases , Quality of Life , Mice , Animals , Lung , Respiration, Artificial/methods
11.
Proc Natl Acad Sci U S A ; 119(19): e2119967119, 2022 05 10.
Article in English | MEDLINE | ID: mdl-35507875

ABSTRACT

Science has traditionally been driven by curiosity and followed one goal: the pursuit of truth and the advancement of knowledge. Recently, ethics, empathy, and equity, which we term "the 3Es," are emerging as new drivers of research and disrupting established practices. Drawing on our own field of GIScience (geographic information science), our goal is to use the geographic approach to accelerate the response to the 3Es by identifying priority issues and research needs that, if addressed, will advance ethical, empathic, and equitable GIScience. We also aim to stimulate similar responses in other disciplines. Organized around the 3Es we discuss ethical issues arising from locational privacy and cartographic integrity, how our ability to build knowledge that will lead to empathy can be curbed by data that lack representativeness and by inadvertent inferential error, and how GIScientists can lead toward equity by supporting social justice efforts and democratizing access to spatial science and its tools. We conclude with a call to action and invite all scientists to join in a fundamentally different science that responds to the 3Es and mobilizes for change by engaging in humility, broadening measures of excellences and success, diversifying our networks, and creating pathways to inclusive education. Science united around the 3Es is the right response to this unique moment where society and the planet are facing a vast array of challenges that require knowledge, truth, and action.


Subject(s)
Empathy , Geographic Information Systems , Information Science , Ethics
13.
Sci Rep ; 12(1): 7094, 2022 05 02.
Article in English | MEDLINE | ID: mdl-35501363

ABSTRACT

Respiratory pathologies alter the structure of the lung and impact its mechanics. Mice are widely used in the study of lung pathologies, but there is a lack of fundamental mechanical measurements assessing the interdependent effect of varying inflation volumes and cycling frequency. In this study, the mechanical properties of five male C57BL/6J mice (29-33 weeks of age) lungs were evaluated ex vivo using our custom-designed electromechanical, continuous measure ventilation apparatus. We comprehensively quantify and analyze the effect of loading volumes (0.3, 0.5, 0.7, 0.9 ml) and breathing rates (5, 10, 20 breaths per minute) on pulmonary inflation and deflation mechanical properties. We report means of static compliance between 5.4-16.1 µl/cmH2O, deflation compliance of 5.3-22.2 µl/cmH2O, percent relaxation of 21.7-39.1%, hysteresis of 1.11-7.6 ml•cmH2O, and energy loss of 39-58% for the range of four volumes and three rates tested, along with additional measures. We conclude that inflation volume was found to significantly affect hysteresis, static compliance, starting compliance, top compliance, deflation compliance, and percent relaxation, and cycling rate was found to affect only hysteresis, energy loss, percent relaxation, static compliance and deflation compliance.


Subject(s)
Insufflation , Lung , Animals , Lung Compliance , Lung Volume Measurements , Male , Mice , Mice, Inbred C57BL
14.
Respir Res ; 23(1): 92, 2022 Apr 11.
Article in English | MEDLINE | ID: mdl-35410291

ABSTRACT

BACKGROUND: Mechanical ventilation is often employed to facilitate breathing in patients suffering from respiratory illnesses and disabilities. Despite the benefits, there are risks associated with ventilator-induced lung injuries and death, driving investigations for alternative ventilation techniques to improve mechanical ventilation, such as multi-oscillatory and high-frequency ventilation; however, few studies have evaluated fundamental lung mechanical local deformations under variable loading. METHODS: Porcine whole lung samples were analyzed using a novel application of digital image correlation interfaced with an electromechanical ventilation system to associate the local behavior to the global volume and pressure loading in response to various inflation volumes and breathing rates. Strains, anisotropy, tissue compliance, and the evolutionary response of the inflating lung were analyzed. RESULTS: Experiments demonstrated a direct and near one-to-one linear relationship between applied lung volumes and resulting local mean strain, and a nonlinear relationship between lung pressures and strains. As the applied air delivery volume was doubled, the tissue surface mean strains approximately increased from 20 to 40%, and average maximum strains measured 70-110%. The tissue strain anisotropic ratio ranged from 0.81 to 0.86 and decreased with greater inflation volumes. Local tissue compliance during the inflation cycle, associating evolutionary strains in response to inflation pressures, was also quantified. CONCLUSION: Ventilation frequencies were not found to influence the local stretch response. Strain measures significantly increased and the anisotropic ratio decreased between the smallest and greatest tidal volumes. Tissue compliance did not exhibit a unifying trend. The insights provided by the real-time continuous measures, and the kinetics to kinematics pulmonary linkage established by this study offers valuable characterizations for computational models and establishes a framework for future studies to compare healthy and diseased lung mechanics to further consider alternatives for effective ventilation strategies.


Subject(s)
High-Frequency Ventilation , Respiration , Animals , Humans , Lung , Respiration, Artificial/adverse effects , Swine , Tidal Volume/physiology
15.
Toxics ; 10(2)2022 Feb 16.
Article in English | MEDLINE | ID: mdl-35202275

ABSTRACT

Lower urinary tract dysfunction (LUTD) is nearly ubiquitous in men of advancing age and exerts substantial physical, mental, social, and financial costs to society. While a large body of research is focused on the molecular, genetic, and epigenetic underpinnings of the disease, little research has been dedicated to the influence of environmental chemicals on disease initiation, progression, or severity. Despite a few recent studies indicating a potential developmental origin of male LUTD linked to chemical exposures in the womb, it remains a grossly understudied endpoint in toxicology research. Therefore, we direct this review to toxicologists who are considering male LUTD as a new aspect of chemical toxicity studies. We focus on the LUTD disease process in men, as well as in the male mouse as a leading research model. To introduce the disease process, we describe the physiology of the male lower urinary tract and the cellular composition of lower urinary tract tissues. We discuss known and suspected mechanisms of male LUTD and examples of environmental chemicals acting through these mechanisms to contribute to LUTD. We also describe mouse models of LUTD and endpoints to diagnose, characterize, and quantify LUTD in men and mice.

16.
J Natl Med Assoc ; 114(1): 18-25, 2022 Feb.
Article in English | MEDLINE | ID: mdl-34615602

ABSTRACT

PURPOSE: To determine racial differences in intensive care unit (ICU) mortality outcomes among mechanically ventilated patients with severe coronavirus disease 2019 (COVID-19) infection in a safety net hospital. METHODS: We retrospectively analyzed a cohort of patients ≥ 18 years old with confirmed severe acute respiratory syndrome-CoV-2 disease associated respiratory failure who were treated with invasive mechanical ventilation and admitted to the ICU from May 1, 2020 - July 30 -2020 at Grady Memorial Hospital, Atlanta, Georgia - a safety net hospital. We evaluated the association between mortality and demographics, co-morbidities, inpatient laboratory, and radiological parameters. RESULTS: Among 181 critically ill mechanically ventilated African American patients treated at a safety net hospital, the mortality rate was 33%. On stratified analysis by race (Table 2), mortality rates were significantly higher in African Americans (39%) and Hispanics (26.3%), compared to Whites (18.9%). On multivariate regression, African Americans were 3 times more likely to die in the ICU compared to Whites (OR 3.1 95% CI 1.6 -5.5). Likewise, the likelihood of mortality was higher in Hispanics compared to Whites (OR 1.3 95% CI 1.0 -3.9). CONCLUSIONS: Our study demonstrated a high ICU mortality rate in a cohort of mechanically ventilated patients with severe COVID-19 infection treated at a safety net hospital. African Americans and Hispanics had significantly higher risks of ICU mortality compared to Whites. These study findings further elucidate the disproportionately higher burden of COVID-19 infection in African Americans and Hispanics.


Subject(s)
COVID-19 , Adolescent , COVID-19/therapy , Humans , Intensive Care Units , Respiration, Artificial , Retrospective Studies , SARS-CoV-2 , Safety-net Providers
17.
Genome Res ; 31(12): 2225-2235, 2021 Dec.
Article in English | MEDLINE | ID: mdl-34772701

ABSTRACT

Several large-scale Illumina whole-genome sequencing (WGS) and whole-exome sequencing (WES) projects have emerged recently that have provided exceptional opportunities to discover mobile element insertions (MEIs) and study the impact of these MEIs on human genomes. However, these projects also have presented major challenges with respect to the scalability and computational costs associated with performing MEI discovery on tens or even hundreds of thousands of samples. To meet these challenges, we have developed a more efficient and scalable version of our mobile element locator tool (MELT) called CloudMELT. We then used MELT and CloudMELT to perform MEI discovery in 57,919 human genomes and exomes, leading to the discovery of 104,350 nonredundant MEIs. We leveraged this collection (1) to examine potentially active L1 source elements that drive the mobilization of new Alu, L1, and SVA MEIs in humans; (2) to examine the population distributions and subfamilies of these MEIs; and (3) to examine the mutagenesis of GENCODE genes, ENCODE-annotated features, and disease genes by these MEIs. Our study provides new insights on the L1 source elements that drive MEI mutagenesis and brings forth a better understanding of how this mutagenesis impacts human genomes.

18.
Infect Prev Pract ; 3(1): 100103, 2021 Mar.
Article in English | MEDLINE | ID: mdl-34316570

ABSTRACT

The critical need for reliable methods to validate decontamination protocols for personal protective equipment (PPE) for re-use during the SARS-CoV-2 pandemic is limited by the need for specialized containment facilities to handle the virus. Hence, we have herein validated the use of a swine coronavirus as a surrogate, and tested the effectiveness of dry heat and ultraviolet (UV) rays for PPE decontamination. Exposure of experimentally contaminated N95 masks and hospital gowns to 60°C for 20 min, and UVC at 1800 mJ/cm2 resulted in a 4-log reduction and inactivation of the surrogate virus. This study provides a novel alternative to validate PPE reprocessing methods.

19.
Science ; 372(6537)2021 04 02.
Article in English | MEDLINE | ID: mdl-33632895

ABSTRACT

Long-read and strand-specific sequencing technologies together facilitate the de novo assembly of high-quality haplotype-resolved human genomes without parent-child trio data. We present 64 assembled haplotypes from 32 diverse human genomes. These highly contiguous haplotype assemblies (average minimum contig length needed to cover 50% of the genome: 26 million base pairs) integrate all forms of genetic variation, even across complex loci. We identified 107,590 structural variants (SVs), of which 68% were not discovered with short-read sequencing, and 278 SV hotspots (spanning megabases of gene-rich sequence). We characterized 130 of the most active mobile element source elements and found that 63% of all SVs arise through homology-mediated mechanisms. This resource enables reliable graph-based genotyping from short reads of up to 50,340 SVs, resulting in the identification of 1526 expression quantitative trait loci as well as SV candidates for adaptive selection within the human population.


Subject(s)
Genetic Variation , Genome, Human , Haplotypes , Female , Genotype , High-Throughput Nucleotide Sequencing , Humans , INDEL Mutation , Interspersed Repetitive Sequences , Male , Population Groups/genetics , Quantitative Trait Loci , Retroelements , Sequence Analysis, DNA , Sequence Inversion , Whole Genome Sequencing
20.
J Cancer Surviv ; 15(6): 906-911, 2021 12.
Article in English | MEDLINE | ID: mdl-33454796

ABSTRACT

PURPOSE: The delivery of oncofertility care remains challenging, and cancer patients increasingly utilize online health information to fill knowledge gaps in their fertility care. The purpose of this study was to evaluate the website content of NCI-designated cancer centers to assess the quantity and quality of patient-oriented information pertaining to fertility preservation (FP). METHODS: We systematically abstracted, evaluated, and compared website content for NCI-designated cancer centers (CC) and comprehensive cancer centers (CCC) pertaining to oncofertility and fertility preservation for both male and female cancer patients. Readability of each website was evaluated using the Flesch-Kincaid grade level and Flesch reading ease score. RESULTS: Overall, 72% of websites mentioned the effect of cancer or cancer therapy on fertility potential. Only 56% of websites had a page devoted solely to the effect of cancer on fertility. Information for female patients was more common than for male patients (59% vs. 50%). CCC websites were more likely to include information about the effects of cancer treatment on fertility, the option for FP and details for FP methods. The majority of websites did not address risks and benefits of FP, moral and ethical considerations, or details about the success rates or costs. The median readability score correlated with a 12th grade reading level. CONCLUSION: Patient-directed information pertaining to oncofertility and FP is inadequate on the majority of websites, and represents a gap in comprehensive cancer care and survivorship planning. Patients who rely primarily on internet-based information regarding oncofertility may not be well-informed about FP options in the critical period between cancer diagnosis and treatment. IMPLICATIONS FOR CANCER SURVIVORS: Cancer patients and survivors interested in future fertility should be referred to reproductive specialists, when possible, for a comprehensive discussion about fertility preservation prior to cancer therapy and fertility options after completing cancer therapy.


Subject(s)
Fertility Preservation , Neoplasms , Comprehension , Female , Fertility , Humans , Internet , Male , Neoplasms/therapy , Referral and Consultation
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