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Publication
Journal: American Journal of Medical Genetics, Part A
February/23/2022
Abstract
Chromosomal microarray analysis using single nucleotide polymorphism probes can detect regions of homozygosity (ROH). This confers a potential utility in revealing autosomal recessive (AR) diseases and uniparental disomy (UPD). Results of genetic testing among pediatric patients from 2015 to 2019 were evaluated. Diagnostic findings with detected ROH from large consecutive case series in the literature were reviewed. Of 2050 pediatric patients, 65 (3%) had one or more ROH and 31 (53%) had follow-up whole exome sequencing (WES) and methylation studies. Seven homozygous variants were detected and four of them from three patients (9.6%) were within the detected ROH and classified as pathogenic or likely pathogenic variants for AR diseases. One patient (3%) had segmental UPD15q for a diagnosis of Prader-Willi syndrome. Additive diagnostic yield from ROH reporting was at least 0.2% (4/2050) of pediatric patients. These results were consistent with findings from several large case series reported in the literature. Detecting ROH had an estimated baseline predictive value of 10% for AR diseases and 3% for UPD. Consanguinity revealed by multiple ROH was a strong predictor for AR diseases. These results provide evidence for genetic counseling and recommendation of follow-up WES and methylation studies for pediatric patients reported with ROH.
Keywords: array comparative genomic hybridization (aCGH); autosomal recessive (AR) disease; pathogenic variant; regions of homozygosity (ROH); uniparental disomy (UPD); whole exome sequencing (WES).
Publication
Journal: Research
February/23/2022
Abstract
Adenoid cystic carcinoma, also known as cylindroma, is one of the rare and unexplored clinical presentations of lung cancer, for which existing knowledge is scarce. This case report discusses a presentation of this tumor in the right lung, which subsequently extended to the left atrium through the right superior pulmonary vein. The extension of this rare tumor into the left atrium makes this case both uniquely distinctive and clinically relevant. The management strategy opted for this case was a right posterolateral thoracotomy and right pneumonectomy with partial resection of the left atrium. The desired outcome of this report is to shed light on the unusual clinical pathophysiology, register its atypical extensions, and navigate surgeons who may encounter this manifestation in the future.
Keywords: Atrial resection; Atypical; Case report; Neoplasm.
Publication
Journal: Journal of Robotic Surgery
February/23/2022
Abstract
This study was undertaken to compare tumor distance to margin after robotic vs. open hepatectomy for colorectal liver metastases (CLM) and to determine the relationship between perioperative variables, surgical approach and tumor distance to margin with overall survival. With IRB approval, we followed 56 patients who underwent a robotic or open hepatectomy for treatment of CLM. The relationships between the tumor distance to margin, operative approach, perioperative variables and survival was determined. The robotic approach yielded greater margins than the open approach (p = 0.04). The robotic vs. open approach had an operative duration of 375 vs. 269 min (p = 0.05), ICU length of stay (LOS) of 0 vs. 1 day (p = 0.01), and hospital LOS of 4 vs. 7 days (p = 0.04). Patients with a tumor distance to margin of ≤ 1 mm and 1.1-9.9 mm had an estimated median survival of 49 months and 24 months, respectively. Estimated median survival for patients with tumor distance to margin of ≥ 10 mm has not been reached but is > 84 months. The use of the robotic approach is associated with greater tumor distance to margin and shorter hospital LOS, but with longer operations. The robotic approach does not compromise oncological margins during resection for CLM.
Keywords: Colorectal metastases; Margin; Robotic hepatectomy.
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Publication
Journal: Geriatrics and Gerontology International
February/23/2022
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Publication
Journal: International Journal of Cancer
February/23/2022
Abstract
Previous research found tobacco smoking and solid fuel use for cooking to increase the risk of chronic liver disease mortality, but previous cohort studies have not investigated their independent and joint associations with liver cancer incidence in contemporary China. The China Kadoorie Biobank (CKB) study recruited 0.5 million adults aged 30-79 years from 10 areas across China during 2004-2008. Participants reported detailed smoking and fuel use information at baseline. After an 11.1-year median follow-up via electronic record linkage, we recorded 2,997 liver cancer cases. Overall, 29.4% participants were current smokers. Among those who cooked at least once per month, 48.8% always used solid fuels (i.e. coal or wood) for cooking. Tobacco smoking and solid fuel use for cooking were independently associated with increased risks of liver cancer, with HRs (95% CIs) of 1.28 (1.15-1.42) and 1.25 (1.03-1.52), respectively. The more cigarettes consumed each day, the earlier the age of starting smoking, or the longer duration of solid fuels exposure, the higher the risk (Ptrend <0.001, =0.001, =0.018, respectively). Compared with never smokers who had always used clean fuels (i.e. gas or electricity), ever-smokers who had always used solid fuels for cooking had a 67% (95% CIs: 1.29-2.17) higher risk. Among Chinese adults, tobacco smoking and solid fuel use for cooking were independently associated with higher risk of liver cancer incidence. Stronger association was observed with higher number of daily cigarette consumption, the earlier age of starting smoking and longer duration of solid fuel use. This article is protected by copyright. All rights reserved.
Keywords: Liver cancer; Prospective cohort study; Solid fuel; Tobacco smoking.
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Publication
Journal: Biological Trace Element Research
February/23/2022
Abstract
Green evolutionary products such as biologically fabricated nanoparticles (NPs) pose a hazard to aquatic creatures. Herein, biogenic silver nanoparticles (AgNPs) were synthesized by the reaction between ionic silver (AgNO3) and aqueous onion peel extract (Allium cepa L). The synthesized biogenic AgNPs were characterized with UV-Visible spectrophotometer, XRD, FT-IR, and TEM with EDS analysis; then, their toxicity was assessed on common carp fish (Cyprinus carpio) using biomarkers of haematological alterations, oxidative stress, histological changes, differential gene expression patterns, and bioaccumulation. The 96 h lethal toxicity was analysed with various concentrations (2, 4, 6, 8, and 10 mg/l) of biogenic AgNPs. Based on 96 h LC50, sublethal concentrations (1/15th, 1/10th, and 1/5th) were given to C. carpio for 28 days. At the end of experiment, the bioaccumulations of Ag content were accumulated mainly in the gills, followed by the liver and muscle. At an interval of 7 days, the haematological alterations showed significance (p < 0.05) and elevation of antioxidant defence mechanism reveals the toxicity of biogenic synthesized AgNPs. Adverse effects on oxidative stress were probably related to the histopathological damage of its vital organs like gill, liver, and muscle. Finally, the fish treated with biogenic synthesized AgNPs were significantly (p < 0.05) downregulates the oxidative stress genes such as Cu-Zn SOD, CAT, GPx1a, GST-α, CYP1A, and Nrf-2 expression patterns. The present study provides evidence of biogenic synthesized AgNPs influence on the aquatic life through induction of oxidative stress.
Keywords: Aneurysm; Bioaccumulation; Cyprinus carpio; Necrotic pancreatic tissue; Oxidative stress.
Publication
Journal: European radiology experimental
February/23/2022
Abstract
Background: Passive paramagnetic markers on magnetic resonance imaging (MRI)-compatible endovascular devices induce susceptibility artifacts, enabling MRI-visibility and real-time MRI-guidance. Optimised visibility is crucial for automatic detection and device tracking but depends on MRI technical parameters and marker characteristics. We assessed marker visibility and automatic detection robustness for varying MRI parameters and marker characteristics in a pulsatile flow phantom.
Methods: Guidewires with varying iron(II,III) oxide nanoparticle (IONP) concentration markers were imaged using gradient-echo (GRE) and balanced steady-state free precession (bSSFP) sequences at 3 T. Furthermore, echo time (TE), slice thickness (ST) and phase encoding direction (PED) were varied. Artifact width was measured and contrast-to-noise ratios were calculated. Marker visibility and image quality were scored by two MRI interventional radiologists. Additionally, a deep learning model for automatic marker detection was trained and the effects of the parameters on detection performance were evaluated. Two-tailed Wilcoxon signed-rank tests were used (significance level, p < 0.05).
Results: Medan artifact width (IQR) was larger in bSSFP compared to GRE images (12.7 mm (11.0-15.2) versus 8.4 mm (6.5-11.0)) (p < 0.001) and showed a positive relation with TE and IONP concentration. Switching PED and doubling ST had limited effect on artifact width. Image quality assessment scores were higher for GRE compared to bSSFP images. The deep learning model automatically detected the markers. However, the model performance was reduced after adjusting PED, TE, and IONP concentration.
Conclusion: Marker visibility was sufficient and a large range of artifact sizes was generated by adjusting TE and IONP concentration. Deep learning-based marker detection was feasible but performance decreased for altered MR parameters. These factors should be considered to optimise device visibility and ensure reliable automatic marker detectability in MRI-guided endovascular interventions.
Keywords: Deep learning; Endovascular procedures; Magnetic resonance imaging; Phantom studies; Pulsatile flow.
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Publication
Journal: Spine Deformity
February/23/2022
Abstract
Purpose: To establish expert consensus on various parameters that constitute elevated risk during spinal deformity surgery and potential preventative strategies that may minimize the risk of intraoperative neuromonitoring (IONM) events and postoperative neurological deficits.
Methods: Through a series of surveys and a final virtual consensus meeting, the Delphi method was utilized to establish consensus among a group of expert spinal deformity surgeons. During iterative rounds of voting, participants were asked to express their agreement (strongly agree, agree, disagree, strongly disagree) to include items in a final set of guidelines. Consensus was defined as ≥ 80% agreement among participants. Near-consensus was ≥ 60% but < 80% agreement, equipoise was ≥ 20% but < 60%, and consensus to exclude was < 20%.
Results: Fifteen of the 15 (100%) invited expert spinal deformity surgeons agreed to participate. There was consensus to include 22 determinants of high-risk (8 patient factors, 8 curve and spinal cord factors, and 6 surgical factors) and 21 preventative strategies (4 preoperative, 14 intraoperative, and 3 postoperative) in the final set of best practice guidelines.
Conclusion: A resource highlighting several salient clinical factors found in high-risk spinal deformity patients as well as strategies to prevent neurological events was successfully created through expert consensus. This is intended to serve as a reference for surgeons and other clinicians involved in the care of spinal deformity patients.
Level of evidence: Level V.
Keywords: Expert consensus; High-risk; Intraoperative neuromonitoring; Neurological deficit; Prevention; Spinal deformity.
Publication
Journal: Experimental Brain Research
February/23/2022
Abstract
Self-motion perception refers to the ability to perceive how the body is moving through the environment. Perception of self-motion has been shown to depend upon the locomotor action patterns used to move the body through the environment. Two separate lines of enquiry have led to the establishment of two distinct theories regarding this effect. One theory has proposed that distances travelled during locomotion are perceived via higher order perceptual variables detected by the haptic perceptual system. This theory proposes that two higher order haptic perceptual variables exist, and that the implication of one of these variables depends upon the type of gait pattern that is used. A second theory proposes that self-motion is perceived via a higher order perceptual variable termed multimodally specified energy expenditure (MSEE). This theory proposes that the effect of locomotor actions patterns upon self-motion perception is related to changes in the metabolic cost of locomotion per unit of perceptually specified traversed distance. Here, we test the hypothesis that the development of these distinct theories is the result of different choices in methodology. The theory of gait type has been developed based largely on the results of homing tasks, whereas the effect of MSEE has been developed based on the results of distance matching tasks. Here we test the hypothesis that the seemly innocuous change in experimental design from using a homing task to using a distance matching task changes the type of perceptual variables implicated in self-motion perception. To test this hypothesis, we closely replicated a recent study of the effect of gait type in all details bar one-we investigated a distance matching task rather than a homing task. As hypothesized, this change yielded results consistent with the predictions of MSEE, and distinct from gait type. We further show that, unlike the effect of gait type, the effect of MSEE is unaffected by the availability of vision. In sum, our findings support the existence of two distinct types of higher order perceptual variables in self-motion perception. We discuss the roles of these two types of perceptual variables in supporting effective human wayfinding.
Keywords: Distance perception; Haptic perceptual system; Homing; Odometry; Self-motion; Visual perceptual system.
Publication
Journal: Attention, Perception & Psychophysics
February/23/2022
Abstract
Categorization at different levels of abstraction have distinct time courses, but the different levels are often considered separately. Superordinate-level categorization is typically faster than basic-level categorization at ultra-rapid exposure durations (< 33 ms) while basic-level categorization is faster than superordinate-level categorization at longer exposure durations. This difference may be due to a competitive dynamic between levels of categorization. By leveraging object substitution masking, we found a distinct time course of masking effects for each level of categorization. Superordinate-level categorization showed a masking effect earlier than basic-level categorization. However, when basic-level categorization first showed a masking effects, superordinate-level categorization was spared despite its earlier masking effect. This unique pattern suggests a trade-off between the two levels of categorization over time. Such an effect supports an account of categorization that depends on the interaction of perceptual encoding, selective attention, and competition between levels of category representation.
Keywords: Object categorization; Object substitution masking; Temporal dynamics; Time course.
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Publication
Journal: Journal of Biomedical Optics
February/23/2022
Abstract
Significance: Diffuse correlation spectroscopy (DCS) is an optical technique that measures blood flow non-invasively and continuously. The time-domain (TD) variant of DCS, namely, TD-DCS has demonstrated a potential to improve brain depth sensitivity and to distinguish superficial from deeper blood flow by utilizing pulsed laser sources and a gating strategy to select photons with different pathlengths within the scattering tissue using a single source-detector separation. A quantitative tool to predict the performance of TD-DCS that can be compared with traditional continuous wave DCS (CW-DCS) currently does not exist but is crucial to provide guidance for the continued development and application of these DCS systems.
Aims: We aim to establish a model to simulate TD-DCS measurements from first principles, which enables analysis of the impact of measurement noise that can be utilized to quantify the performance for any particular TD-DCS system and measurement geometry.
Approach: We have integrated the Monte Carlo simulation describing photon scattering in biological tissue with the wave model that calculates the speckle intensity fluctuations due to tissue dynamics to simulate TD-DCS measurements from first principles.
Results: Our model is capable of simulating photon counts received at the detector as a function of time for both CW-DCS and TD-DCS measurements. The effects of the laser coherence, instrument response function, detector gate delay, gate width, intrinsic noise arising from speckle statistics, and shot noise are incorporated in the model. We have demonstrated the ability of our model to simulate TD-DCS measurements under different conditions, and the use of our model to compare the performance of TD-DCS and CW-DCS under a few typical measurement conditions.
Conclusion: We have established a Monte Carlo-Wave model that is capable of simulating CW-DCS and TD-DCS measurements from first principles. In our exploration of the parameter space, we could not find realistic measurement conditions under which TD-DCS outperformed CW-DCS. However, the parameter space for the optimization of the contrast to noise ratio of TD-DCS is large and complex, so our results do not imply that TD-DCS cannot indeed outperform CW-DCS under different conditions. We made our code available publicly for others in the field to find use cases favorable to TD-DCS. TD-DCS also provides a promising way to measure deep brain tissue dynamics using a short source-detector separation, which will benefit the development of technologies including high density DCS systems and image reconstruction using a limited number of source-detector pairs.
Keywords: Monte Carlo; blood flow; noise model; time-domain diffuse correlation spectroscopy; wave propagation.
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Publication
Journal: Front Fungal Biol
February/23/2022
Abstract
Domestication provides a window into adaptive change. Over the course of 2 decades of laboratory culture, a strain of the nematode-specific fungus Drechmeria coniospora became more virulent during its infection of Caenorhabditis elegans. Through a close comparative examination of the genome sequences of the original strain and its more pathogenic derivative, we identified a small number of non-synonymous mutations in protein-coding genes. In one case, the mutation was predicted to affect a gene involved in hypoxia resistance and we provide direct corroborative evidence for such an effect. The mutated genes with functional annotation were all predicted to impact the general physiology of the fungus and this was reflected in an increased in vitro growth, even in the absence of C. elegans. While most cases involved single nucleotide substitutions predicted to lead to a loss of function, we also observed a predicted restoration of gene function through deletion of an extraneous tandem repeat. This latter change affected the regulatory subunit of a cAMP-dependent protein kinase. Remarkably, we also found a mutation in a gene for a second protein of the same, protein kinase A, pathway. Together, we predict that they result in a stronger repression of the pathway for given levels of ATP and adenylate cyclase activity. Finally, we also identified mutations in a few lineage-specific genes of unknown function that are candidates for factors that influence virulence in a more direct manner.
Publication
Journal: International journal of older people nursing
February/23/2022
Abstract
Background: Iconographical Falls Efficacy Scale (Icon-FES) is the first visual scale for fear of falling. Unlike the others, Icon-FES, including 30 items offers a unique perspective to assess the fear of falling by providing more precise contexts.
Objectives: The study aimed to introduce the 30-item Icon-FES, the first visual content fear of falling scale, into Turkish and to explore its psychometric properties.
Methods: First, the Turkish language validity of Icon-FES was ensured by following the forward-backward translation protocol. A total of 150 older adults independent in their daily living activities were included in the study. Falls Efficacy Scale International (FES-I) and Activities Specific Balance and Confidence Scale (ABC), which are frequently preferred in the literature for the same purpose, were used to provide the criterion validity of the scale. The exploratory factor analysis method was utilised for the construct validity of the scale.
Results: Factor analysis revealed a two-factor structure. 52.22% of the total variance was explained with single-factor analysis. In the criterion validity analysis, while there was a strong positive correlation between Icon-FES and FES-I (r = 0.910, p < 0.01), a strong negative correlation was found between Icon-FES and ABC (r = -0.887, p < 0.01). The Cronbach Alpha value for the internal consistency of the scale was calculated as 0.965. The intraclass correlation coefficient between two measurements performed one-week interval was found to be 0.985 (p < 0.001).
Conclusion: The study showed that Icon-FES is a valid, reliable and rapid result assessment tool for community-dwelling older adults without cognitive dysfunction.
Keywords: accidental falls; ageing; fear; geriatric assessment; independent living.
Publication
Journal: Journal of Clinical Nursing
February/23/2022
Abstract
Aim and objectives: This study investigated the incidence of thirst and contributing factors in intensive care unit (ICU) patients by analysing differences in physiologic, psychological, and disease- and environment-related parameters in ICU patients with vs without thirst.
Background: Little is known about the factors that influence thirst, and there are no standardised methods for identifying at-risk patients in the ICU. Previous studies generalised the risk of thirst in ICU patients because of a lack of data on relevant variables. Here, we examined the factors contributing to thirst based on symptom management theory.
Design: Prospective descriptive design.
Methods: Physiologic, psychological, disease-related and environment-related data were collected for 301 patients from 4 ICUs (medical, surgical, cardiac and emergency ICUs) of a hospital from 15 December 2017-10 July 2019 through a screening interview, questionnaires and from electronic medical records. The data were analysed with descriptive statistics, the t-test and chi-squared test, and by logistic regression. Binary stepwise logistic regression was used to identify thirst-associated factors. The findings are reported according to the STROBE checklist for cross-sectional studies.
Results: In total, 210/301 (69.8%) ICU patients experienced thirst. Risk factors were nil per os order (odds ratio [OR] = 4.10, 95% confidence interval [CI]: 1.44-11.69), surgery (OR = 2.96, 95% CI: 1.11-7.93), high glucose (OR = 3.36, 95% CI: 1.01-11.17) and greater disease severity (OR = 1.13, 95% CI: 1.02-1.24).
Conclusion: Thirst is common in ICU patients. Timely detection of patients' thirst and identification of those at high risk by ICU nurses can ensure the implementation of effective and safe interventions.
Relevance to clinical practice: The results of this study highlight the need to evaluate thirst symptoms in patients with severe disease and develop relief strategies for fasting, perioperative, and hyperglycaemic patients and others who are at high risk of thirst.
Keywords: intensive care unit; risk factor; thirst.
Publication
Journal: STAR Protoc
February/23/2022
Abstract
Caenorhabditis elegans is an exceptionally transparent model to analyze calcium (Ca2+) signals, but available protocols for neuronal Ca2+ imaging may not be suitable for studying glial cells. Here, we present a detailed protocol for glial Ca2+ imaging in C. elegans following three different approaches including chemical, mechanical, and optogenetic stimulation. We also provide the details for imaging analysis using Image-J. For complete details on the use and execution of this protocol, please refer to Duan et al. (2020).
Keywords: Behavior; Microscopy; Model Organisms; Neuroscience.
Publication
Journal: Neurological Sciences
February/23/2022
Abstract
Introduction: Spinocerebellar ataxia type 3 (SCA-ATXN3) is a genetic neurodegenerative disease characterized by progressive cerebellar ataxia and other variable findings, including Parkinsonian syndrome. There is no disease-modifying treatment for SCA-ATXN3, so symptom-based management predominates. We aim to illustrate the disease's phenotypic variability and describe the effectiveness of advanced therapies in Parkinsonian symptoms.
Cases: We present two patients with a predominant levodopa-responsive Parkinsonian phenotype, combined with cerebellar features. We achieved an optimal control of Parkinsonian symptoms with a carbidopa-levodopa intestinal gel infusion pump.
Conclusions: We should suspect an SCA-ATXN3 etiology in patients with syndromes resembling an early-onset Parkinson disease with an autosomal dominant pattern. These patients could benefit from anti-Parkinsonian treatments, including levodopa intestinal gel infusion pump.
Keywords: Levodopa infusion; Levodopa response; Levodopa treatment; Parkinsonian phenotype; SCA-3; SCA-ATXN3.
Publication
Journal: Journal of Community Psychology
February/23/2022
Abstract
This study identified resilience processes at the individual, family, and community levels among Filipino migrant domestic workers (MDWs). Resilience processes highlight strengths and resources that can enhance positive adaptation to problems that affect this vulnerable migrant group. Data came from focus groups and key informant interviews involving 27 MDWs and 7 key informants. Data was analyzed using thematic analysis and organized according to the socioecological model. Results revealed 7 resilience processes. Financial coping, health management, and spirituality were found across levels. Companionship and emotional support are transacted within family and community levels, whereas expanding knowledge and support occurs at individual and community levels. MDWs and their families prioritize each family member, whereas the community provides legal support. Resilience processes exist across ecological levels. However, individual resilience processes are insufficient, thus necessitating collective agency through familial and community resilience processes and building social structures that facilitate resilience.
Keywords: Filipino; domestic work; migration; multisystem; resilience; social support; socioecology.
Publication
Journal: Clinical and Experimental Medicine
February/23/2022
Abstract
The incidence of oropharyngeal cancers (OPC) is increasing in the world. Among OPC, those induced by human papillomaviruses have a better prognosis than non-HPV-associated OPC. The objective of this study was to highlight the relevance of HPV16 load, HPV16 DNA integration and HPV16-L1 serology on progression-free survival and overall survival of OPC patients. The PAPILLOPHAR cohort consists of 362 patients with oropharyngeal squamous cell carcinomas prospectively followed up for 5 years after treatment. Tumor biopsies and sera were collected at inclusion to investigate tumor HPV DNA/RNA characteristics and HPV16 L1 serology, respectively. Twenty-seven percent of tumor biopsies were HPV DNA- and RNA-positive and HPV16 represented 93% of HPV-positive cases. Among them, neither HPV16 viral load nor HPV16 DNA integration was associated with overall survival (OS) or progression-free survival (PFS). In contrast, high anti-HPV16 L1 antibody titers were significantly associated with a better OS and PFS. This study reveals that HPV16 load and integration are not relevant prognosis biomarkers in OPC patients.Clinical Relevance: High levels of HPV16 L1 antibodies may be useful to predict OPC patient outcome following treatment.ClinicalTrials.gov Identifier: NCT00918710, May 2017.
Keywords: Biomarker; Oropharyngeal cancer; Papillomavirus; Prognosis.
Publication
Journal: Cell Genom
February/23/2022
Abstract
The NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-space (AnVIL; https://anvilproject.org) was developed to address a widespread community need for a unified computing environment for genomics data storage, management, and analysis. In this perspective, we present AnVIL, describe its ecosystem and interoperability with other platforms, and highlight how this platform and associated initiatives contribute to improved genomic data sharing efforts. The AnVIL is a federated cloud platform designed to manage and store genomics and related data, enable population-scale analysis, and facilitate collaboration through the sharing of data, code, and analysis results. By inverting the traditional model of data sharing, the AnVIL eliminates the need for data movement while also adding security measures for active threat detection and monitoring and provides scalable, shared computing resources for any researcher. We describe the core data management and analysis components of the AnVIL, which currently consists of Terra, Gen3, Galaxy, RStudio/Bioconductor, Dockstore, and Jupyter, and describe several flagship genomics datasets available within the AnVIL. We continue to extend and innovate the AnVIL ecosystem by implementing new capabilities, including mechanisms for interoperability and responsible data sharing, while streamlining access management. The AnVIL opens many new opportunities for analysis, collaboration, and data sharing that are needed to drive research and to make discoveries through the joint analysis of hundreds of thousands to millions of genomes along with associated clinical and molecular data types.
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Publication
Journal: Psychogeriatrics
February/23/2022
Abstract
Background: The aim of the present study was to explore factors associated with (i) the inability to attend a follow-up assessment in the community-based participatory research (CBPR) framework; (ii) mortality; and (iii) institutionalization, across a 5-year period among older people with cognitive impairment identified via an epidemiological survey.
Methods: The participants were 198 older people whose score on the Mini-Mental State Examination was below 24, and who were living in our CBPR region in the Tokyo metropolitan area. Baseline data included sociodemographic factors, health-related factors, social factors, and assessments by healthcare professionals. Over the following 5 years we observed what happened to the subjects within the CBPR framework. Bivariate and stepwise multiple logistic regression analyses were performed to explore the factors associated with the inability to attend a follow-up assessment, 5-year mortality, and institutionalization.
Results: Participants who did not attend a follow-up assessment tended to live alone. Being older (>80), living with others, frailty, and the need for rights protection and daily living support were associated with increased mortality. Long-term care insurance certification was strongly associated with institutionalization as a natural consequence of the health-care system. Having dementia and low access to doctors were also positively associated with institutionalization.
Conclusions: Older people with cognitive impairment who are living alone are at higher risk of being overlooked by society. To move toward more inclusive communities, the following are recommended: (i) more interventions focusing on older people living alone; (ii) social interventions to detect daily life collapse or rights violations; and (iii) more support to help people with dementia continue living in the community.
Keywords: community living; dementia; institutionalization; living alone; mortality.
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Journal: International Journal of Eating Disorders
February/23/2022
Abstract
Objective: The Compulsive Exercise Test (CET) was developed to assess compulsive exercise in patients with eating disorders (EDs), but originally validated in a nonclinical sample, and psychometric properties were only investigated in small clinical samples. Therefore, the aim of this study was to examine its psychometric properties in a large clinical sample of adolescent and adult inpatients with anorexia nervosa and bulimia nervosa.
Method: A sample of 2,535 German female inpatients with EDs completed the CET and other instruments at admission and discharge. Factor structure (confirmatory [CFA] and exploratory factor analyses [EFA]), internal consistency and construct validity, measurement invariance across age and diagnostic groups, group comparisons of means, as well as sensitivity to change during treatment were assessed.
Results: The CET showed high internal consistency, very good construct validity, and sensitivity to change. CFA indicated a better fit of four-factor and three-factor solutions compared to the original five-factor model. However, subsequent EFA identified an optimum for a five-factor model. Only three subscales were satisfactorily invariant to measurement, but not the CET total score. Only small differences in scores between patient groups were observed.
Discussion: Results support internal consistency, construct validity, and sensitivity to change, whereas factor structure remains inconclusive, questioning the theoretical basis of the CET. There is limited support for using the lack of enjoyment subscale, and only moderate support for using the rigidity subscale in patients with EDs. It is recommended to further explore and/or revise the original CET, including investigation in other samples, for example, male samples.
Keywords: Compulsive Exercise Test; anorexia nervosa; bulimia nervosa; factor analysis; inpatient; psychometric properties; validation.
Publication
Journal: Journal of Veterinary Internal Medicine
February/23/2022
Abstract
Background: Urethral obstruction (UO) has a negative effect on welfare of cats.
Objectives: This study aimed to determine incidence, case management, and outcomes of UO in cats in primary-care practice in the United Kingdom.
Animals: All male cats under veterinary care within the VetCompass database in 2016.
Methods: A retrospective cohort study was performed. The electronic records of all male cats with a clinical note during the study period were searched for UO cases and were manually reviewed for inclusion. Additional demographic and clinical information were extracted on cases.
Results: From the study cohort of 237 825 male cats, there were 1293 incident cases. The estimated UO incidence risk during 2016 was 0.54 (95% CI: 0.51-0.57). Demographic and clinical data were available for 1108 cases. Antibiotics were administered to 641/1108 (57.9%) cases. Overall repeat catheterization rate was 253/854 (29.6%). Repeat catheterization at 48 hours was less frequent in patients with indwelling catheters (10.1%) vs those that had a catheter placed and then immediately removed (14.8%; P = .04). Death during a UO episode was 329/1108 (29.6%), and 285/329 (88.0%) deaths involved euthanasia.
Conclusions and clinical importance: Antibiotics were commonly prescribed in cats for treatment of UO despite minimal evidence in the clinical records of bacterial cystitis. Repeat catheterization was common and case fatality rate during a UO episode was high. Repeat catheterization within 48 hours of elective removal of a urethral catheter was less common in cats that had previously had indwelling catheters. The majority of cats requiring repeat catheterization survived until the end of the study.
Keywords: FLUTD; antibiotics; blocked; feline lower urinary tract disease; primary care; recurrence; urinary blockage.
Publication
Journal: Medicine
February/23/2022
Abstract
In the United States, HIV outbreaks are occurring in areas most affected by the opioid epidemic, including West Virginia (WV). Cultural Theory contends that multiple cultures co-exist within societies distinguished by their differing intensities of rules or norms of behavior ('grid') or degree of group allegiance/individual autonomy ('group'). Accordingly, we would expect that perceptions about HIV, including stigma, correspond with individuals' grid/group attributes. To explore this, we conducted qualitative interviews with people who inject drugs (PWID) recruited from a WV syringe service program. This paper focuses on our unexpected findings on stigma during a coinciding HIV outbreak. PWID living homeless identified as belonging to a 'street family'. Its members were mutually distrustful and constrained by poverty and drug dependence but despite their conflicts, reported openness between each other about HIV + status. Interviewees living with HIV perceived little enacted stigma from peers since the local outbreak. Contrasting stigmatizing attitudes were attributed to the town's mainstream society. The 'High Five' (Hi-V) Club, expressing defiance towards stigmatizing behavior outside the street family, epitomized the tensions between a desire for solidary and mutual support and a fatalistic tendency towards division and distrust. Fatalism may hinder cooperation, solidarity and HIV prevention but may explain perceived reductions in stigma.
Keywords: Cultural Theory; HIV; Injecting drug use; Stigma; West Virginia.
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Journal: ChemBioChem
February/23/2022
Abstract
Current immunotherapeutics often work by directing components of the immune system to recognize biomarkers on the surface of cancer cells to generate an immune response. However, variable changes in biomarker distribution and expression can result in uneven patient response. The development of a more universal tumor-homing strategy has the potential to improve selectivity and extend therapy to cancers with decreased expression or absence of specific biomarkers. Here, we designed a bifunctional agent that exploits the inherent acidic microenvironment of most solid tumors to selectively graft the surface of cancer cells with a formyl peptide receptor ligand (FPRL). Our approach is based on the pH(Low) Insertion Peptide (pHLIP), a unique peptide that selectively targets tumors in vivo by anchoring onto cancer cells in a pH-dependent manner. We establish that selectively remodeling cancer cells with a pHLIP-based FPRL activates formyl peptide receptors on recruited immune cells, potentially initiating an immune response towards tumors.
Keywords: Acidosis; Antitumor agents; Immunochemistry; peptide.
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