Virtual Reality-Induced Modification of Vestibulo-Ocular Reflex Gain in Posturography Tests.

Background: The aim of the study was to demonstrate the influence of virtual reality (VR) exposure on postural stability and determine the mechanism of this influence. Methods: Twenty-six male participants aged 21-23 years were included, who underwent postural stability assessment twice before and after a few minute of single VR exposure. The VR projection was a computer-generated simulation of the surrounding scenery. Postural stability was assessed using the Sensory Organization Test (SOT), using Computerized Dynamic Posturography (CDP). Results: The findings indicated that VR exposure affects the visual and vestibular systems. Significant differences (p < 0.05) in results before and after VR exposure were observed in tests on an unstable surface. It was confirmed that VR exposure has a positive influence on postural stability, attributed to an increase in the sensory weight of the vestibular system. Partial evidence suggested that the reduction in vestibulo-ocular reflex (VOR) reinforcement may result in an adaptive shift to the optokinetic reflex (OKR). Conclusions: By modifying the process of environmental perception through artificial sensory simulation, the influence of VR on postural stability has been demonstrated. The validity of this type of research is determined by the effectiveness of VR techniques in the field of vestibular rehabilitation.

Visibility, impact, and applications of bibliometric software tools through citation analysis.

This study examines the visibility, impact, and applications of bibliometric software tools in the peer-reviewed literature through a "Cited Reference Search" using the Web of Science (WOS) database. A total of 2882 citing research articles to eight bibliometric software tools were extracted from the WOS Core Collection between 2010 and 2021. These citing articles are analyzed by publication year, country, publication title, publisher, open access level, funding agency, and WOS category. Mentions of bibliometric software tools in Author Keywords and KeyWords Plus are also compared. The VOSviewer software is utilized to identify specific research areas by discipline from the keyword co-occurrences of the citing articles. The findings reveal that while bibliometric software tools are making a noteworthy impact and contribution to research, their visibility through referencing, Author Keywords, and KeyWords Plus is limited. This study serves as a clarion call to raise awareness and initiate discussions on the citing practices of software tools in scholarly publications.

Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.

BACKGROUND: This study aimed to identify and resolve discordant variant interpretations across clinical molecular genetic laboratories through the Canadian Open Genetics Repository (COGR), an online collaborative effort for variant sharing and interpretation. METHODS: Laboratories uploaded variant data to the Franklin Genoox platform. Reports were issued to each laboratory, summarising variants where conflicting classifications with another laboratory were noted. Laboratories could then reassess variants to resolve discordances. Discordance was calculated using a five-tier model (pathogenic (P), likely pathogenic (LP), variant of uncertain significance (VUS), likely benign (LB), benign (B)), a three-tier model (LP/P are positive, VUS are inconclusive, LB/B are negative) and a two-tier model (LP/P are clinically actionable, VUS/LB/B are not). We compared the COGR classifications to automated classifications generated by Franklin. RESULTS: Twelve laboratories submitted classifications for 44 510 unique variants. 2419 variants (5.4%) were classified by two or more laboratories. From baseline to after reassessment, the number of discordant variants decreased from 833 (34.4% of variants reported by two or more laboratories) to 723 (29.9%) based on the five-tier model, 403 (16.7%) to 279 (11.5%) based on the three-tier model and 77 (3.2%) to 37 (1.5%) based on the two-tier model. Compared with the COGR classification, the automated Franklin classifications had 94.5% sensitivity and 96.6% specificity for identifying actionable (P or LP) variants. CONCLUSIONS: The COGR provides a standardised mechanism for laboratories to identify discordant variant interpretations and reduce discordance in genetic test result delivery. Such quality assurance programmes are important as genetic testing is implemented more widely in clinical care.

Retrospective testing of respiratory specimens for COVID-19 to assess for earlier SARS-CoV-2 infections in Alberta, Canada.

Background: The first case of coronavirus disease 2019 (COVID-19) in Alberta, Canada, was confirmed on March 5, 2020. Because the virus testing criteria had changed significantly over this time period, we wanted to ascertain whether previous cases of COVID-19 had been missed in the province. Methods: Our aim was to retrospectively evaluate specimens submitted for respiratory virus testing from December 1, 2019, through March 7, 2020, for undetected severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections before the first confirmed case. Results: Testing of 23,517 samples (representing 23,394 patients) identified 1 patient positive for SARS-CoV-2. This specimen was collected on February 24, 2020, from a patient with symptoms consistent with COVID-19 who had recently returned from the western United States. Phylogenetic analysis confirmed this viral isolate belonged to lineage B.1. The epidemiology of this case is consistent with those of other early cases before sustained community transmission, which included a travel history outside of Canada. Conclusion: This exercise provides support that local public health pandemic planning was satisfactory and timely.

Historique: Le premier cas de maladie à coronavirus 2019 (COVID-19) en Alberta, au Canada, a été confirmé le 15 mars 2020. Puisque les critères de dépistage ont beaucoup évolué pendant cette période, les chercheurs voulaient vérifier si des cas antérieurs de COVID-19 avaient été omis dans la province. Méthodologie: Les chercheurs ont procédé à l'évaluation rétrospective d'échantillons soumis en vue du dépistage d'un virus respiratoire entre le 1er décembre 2019 et le 7 mars 2020, afin de retracer les infections par le coronavirus 2 du syndrome respiratoire aigu sévère (SARS-CoV-2) non décelées avant le premier cas confirmé. Résultats: Le dépistage de 23 517 échantillons (représentant 23 394 patients) a fait ressortir un patient positif au SARS-CoV-2. Le prélèvement avait été effectué le 24 février 2020 chez un patient éprouvant des symptômes correspondant à la COVID-19 revenu récemment de l'ouest des États-Unis. L'analyse phylogénétique a confirmé que l'isolat viral appartenait à la lignée B.1. L'épidémiologie de ce cas est compatible avec celle des autres premiers cas précédant une transmission communautaire soutenue, qui incluait un voyage à l'extérieur du Canada. Conclusion: Cet exercice appuie la pertinence et la rapidité de la planification sanitaire locale de la pandémie.

The effect of subjective perception of cognition on emotional functioning in adults with long-term neurological and neuropsychiatric disorders.

Purpose: To examine effects of subjective perception and objective status of cognition on emotional functioning in a sample of adults with long-term neurological and neuropsychiatric disorders.Method: N = 65. Subjective measures were derived from the self-ratings on the Problem Checklist (PCL) from the HI-FI; the objective status was represented by combined externally standardised scores on neuropsychological tests across three cognitive domains: verbal memory, executive functioning, and psychomotor speed.Results: No relationship was found between self-ratings of cognitive competence and performance on neuropsychological tests. Based on the results of the multiple regression analysis, approximately 40% of the variability in emotional functioning was explained by self-perceived cognitive and physical competence, while the addition of objective measures of cognition increased predictive capacity by only 1.3%. The awareness scores were calculated as the difference between objective performance scores and self-ratings of cognition. Overall, the sample demonstrated a tendency towards low awareness of cognitive deficits. Patients who overestimated cognitive deficits self-rated emotional functioning at a significantly lower level, while those with average or low awareness of deficits were equally emotionally content.Conclusions: Self-perception of competence, rather than objective level of functioning influence emotional well-being and quality of life in individuals with long-term disabilities in our study.IMPLICATIONS FOR REHABILITATIONCognitive deficits are common consequences of neurological dysfunction.This study shows that self-perception of cognitive competence, rather than objective level of cognitive functioning has critical influence on emotional well-being and perceived quality of life.An addition of psychotherapeutic intervention directed at alleviation of self-perception bias is likely to improve emotional well-being and enhance efficiency of rehabilitation efforts in patients with long-term disabilities due to neurological disorders.Based on our findings, patients with long-term disabilities could benefit from psychotherapy to improve their self-perception and quality of life.

Substance-Based Bibliometrics: Identifying Research Gaps by Counting and Analyzing Substances.

Identifying research gaps and generating research questions are often a first step in developing ideas for writing a research paper or grant proposal. The concept of substance-based bibliometrics uses the counts of substances in the scientific literature to better understand, assess, and clarify the state and impact of information in the chemical sciences. Connecting substances indexed to specific bioactivity or target indicators can lead to assessing the biochemical, biological, and medicinal relevance of substances as well as developing ideas for expanding drug design and discovery through identifying and modifying the structural features of molecules. This study uses Chemical Abstracts through the SciFinder database to count for the occurrence of substances in the scientific literature. The study sets out search strategies for discovering potential research gaps and new ideas through visualization of chemical structures with known bioactivity and target indicators. The author recommends that subject librarians integrate research gap training in their bibliographic instruction classes, particularly to upper-level undergraduate and graduate chemistry students.

Factors associated with return to work in patients with long-term disabilities due to neurological and neuropsychiatric disorders.

The current study explores factors predicting return to work in a sample of patients with neurological and neuropsychiatric disorders who have attended a prevocational readiness and social skills training programme many years after trauma. Participants were community-dwelling adults with long-term disabilities (N = 67). Results of univariate analyses followed by multivariate logistic regression analysis revealed that both pre-injury (prior) and post-injury (current) factors influenced the likelihood of employment in our sample: prior employment, current employment readiness, current cognitive competence (particularly memory and executive functioning) and emotional adjustment. Our findings demonstrate that both pre-trauma and current factors interact in predicting return to work not only for individuals with traumatic brain injury (TBI), but also for a broader group of patients with long-term disabilities due to a variety of neurological and neuropsychiatric conditions. Thus, our findings provide preliminary support for ongoing long-term management of individuals with long-term disabilities and warrant close attention of future investigators to potential benefits of cognitive remediation, psychotherapy and vocational rehabilitation in terms of maintenance of initial gains and increased probability of return to work many years after trauma.

Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR).

PurposeThe purpose of this study was to develop a national program for Canadian diagnostic laboratories to compare DNA-variant interpretations and resolve discordant-variant classifications using the BRCA1 and BRCA2 genes as a case study.MethodsBRCA1 and BRCA2 variant data were uploaded and shared through the Canadian Open Genetics Repository (COGR; http://www.opengenetics.ca). A total of 5,554 variant observations were submitted; classification differences were identified and comparison reports were sent to participating laboratories. Each site had the opportunity to reclassify variants. The data were analyzed before and after the comparison report process to track concordant- or discordant-variant classifications by three different models.ResultsVariant-discordance rates varied by classification model: 38.9% of variants were discordant when using a five-tier model, 26.7% with a three-tier model, and 5.0% with a two-tier model. After the comparison report process, the proportion of discordant variants dropped to 30.7% with the five-tier model, to 14.2% with the three-tier model, and to 0.9% using the two-tier model.ConclusionWe present a Canadian interinstitutional quality improvement program for DNA-variant interpretations. Sharing of variant knowledge by clinical diagnostic laboratories will allow clinicians and patients to make more informed decisions and lead to better patient outcomes.

Assessing the cost of implementing the 2011 Society of Obstetricians and Gynecologists of Canada and Canadian College of Medical Genetics practice guidelines on the detection of fetal aneuploidies.

BACKGROUND: The Society of Obstetricians and Gynecologists of Canada and the Canadian College of Medical Genetics published guidelines, in 2011, recommending replacement of karyotype with quantitative fluorescent polymerase chain reaction when prenatal testing is performed because of an increased risk of a common aneuploidy. STUDY OBJECTIVE: This study's objective is to perform a cost analysis following the implementation of quantitative fluorescent polymerase chain reaction as a stand-alone test. RESULTS: A total of 658 samples were received between 1 April 2014 and 31 August 2015: 576 amniocentesis samples and 82 chorionic villi sampling. A chromosome abnormality was identified in 14% (93/658) of the prenatal samples tested. The implementation of the 2011 Society of Obstetricians and Gynecologists of Canada and the Canadian College of Medical Genetics guidelines in Edmonton and Northern Alberta resulted in a cost savings of $46 295.80. The replacement of karyotype with chromosomal microarray for some indications would be associated with additional costs. CONCLUSION: The implementation of new test methods may provide cost savings or added costs. Cost analysis is important to consider during the implementation of new guidelines or technologies. © 2017 John Wiley & Sons, Ltd.

Psychometric properties of the HI-FI problem checklist in a sample of adults with neurological and neuropsychiatric disorders: factors contributing to life satisfaction after long-term disability.

Purpose To assess psychometric properties of the problem checklist (PCL) in a sample of individuals with neurological and neuropsychiatric disorders many years after trauma; to identify factors that impact life satisfaction and promote functional competence after long-term disability. Method Cross-sectional, interview- and assessment-based study. Participants were community-dwelling adults with disabilities resulting from neurological and neuropsychiatric disorders (N = 53), who participated in a pre-vocational readiness and social skills training program. The Problem Checklist from the New York University Head Injury Family Interview (PCL), a battery of self-rated and clinician-rated measures of social/emotional status, and neuropsychological tests were main outcome measures. Results PCL is a valid and reliable instrument with acceptable psychometric properties (reliability coefficients for two scales and the total score are above (0.795). Use of maladaptive coping strategies in our sample was reflected in inverse relationship between depression and denial of disability, and in the tendency to overrate self-reported symptoms by participants with acquired trauma. Considerably lower self-ratings of symptoms across all PCL scales were seen in those of our participants who live with parents. Conclusions The study offers initial support for the use of PCL as a measure of long-term functional outcome in individuals with neurological and neuropsychiatric diagnoses. The goal of rehabilitation in patients with long-term disabilities is increase in life satisfaction. Implications for Rehabilitation An important goal of rehabilitation and training programs for individuals with long-term disabilities due to dysfunction of the central nervous system is to improve their quality of life. The HI-FI Problem Checklist (PCL) is a brief and efficient instrument for assessing functional outcomes after long-term disability. This study demonstrated acceptable psychometric properties of the PCL in a sample of 53 individuals participating in a pre-vocational training program and provided initial support for its utility for patients with various diagnoses.

Utility of the Community Integration Questionnaire in a sample of adults with neurological and neuropsychiatric disorders receiving prevocational training.

PURPOSE: To investigate utility of the Community Integration Questionnaire (CIQ) in a mixed sample of adults with neurological and neuropsychiatric disorders. METHOD: Cross-sectional, interview-based study. Participants were community-dwelling adults with disabilities resulting from neurological and neuropsychiatric disorders (N = 54), who participated in a pre-vocational readiness and social skills training program. Psychometric properties of the Community Integration Questionnaire (CIQ) were assessed and validated against Mayo-Portland Adaptability Inventory (MPAI) and The Problem Checklist from the New York University Head Injury Family Interview (PCL). RESULTS: Based on the revised scoring procedures, psychometric properties of the CIQ Home Competency scale were excellent, followed by the Total score and Social Integration scale. Productive Activity scale had low content validity and a weak association with the total score. Convergent and discriminant validity of the CIQ were demonstrated by correlation patterns with MPAI scales in the expected direction. Significant relationship was found with PCL Physical/Dependency scale. Significant associations were found with sex, living status, and record of subsequent employment. CONCLUSIONS: The results provide support for the use of the CIQ as a measure of participation in individuals with neurological and neuropsychiatric diagnoses and resulting disabilities. IMPLICATIONS FOR REHABILITATION: An important goal of rehabilitation and training programs for individuals with dysfunction of the central nervous system is to promote their participation in social, vocational, and domestic activities. The Community Integration Questionnaire (CIQ) is a brief and efficient instrument for measuring these participation domains. This study demonstrated good psychometric properties and high utility of the CIQ in a sample of 54 individuals participating in a prevocational training program.

Structural and spectroscopic demonstration of agostic C-C interactions in electron-deficient metallacyclobutanes and related cage complexes: possible implications for olefin polymerizations and metatheses.

The reaction of the half-open titanocene, Ti(C5H5)(c-C8H11)(PMe3) (c-C8H11 = cyclooctadienyl), with two equivalents of PhC2SiMe3 leads to their incorporation and coupling to the dienyl fragment. One alkyne inserts into a C-H bond of the central CH2 group of the c-C8H11 ligand's edge-bridge, while the second undergoes a 5+2 coupling with the dienyl fragment, yielding coordinated sigma-allyl and olefin fragments, as demonstrated by X-ray diffraction. Together with the C5H5 and PMe3 coordinations, this leads to a 14-electron count. While the very electron-deficient titanium center passes up potential pi coordination of the allyl fragment, it instead engages in interactions with one or two C-C bonds, and perhaps a C-H bond, as revealed from the structural and spectroscopic data. Similar interactions have been found in electron-deficient metallacyclobutane complexes of titanium and zirconium, but not in the 18-electron molybdenum and tungsten analogues. These and other observations may have implications relating to metatheses and polymerizations of olefins.

Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease.

Congenital heart disease (CHD), comprising structural or functional abnormalities present at birth, is the most common birth defect in humans. Reduced expression of connexin40 (Cx40) has been found in association with atrial fibrillation, and deletion of Cx40 in a mouse model causes various structural heart abnormalities in 18% of heterozygotes. We screened 505 unrelated CHD cases for deletions or duplications of the Cx40 gene (GJA5) by real-time quantitative PCR, in order to determine whether altered copy number of this gene may be associated with a cardiac phenotype in humans. Dosage of Cx40 flanking genes (ACPL1 and Cx50 gene, GJA8) was determined by real-time PCR for all apparent positive cases. In total, 3 cases were found to carry deletions on chromosome 1q21.1 spanning ACPL1, Cx40, and Cx50 genes. Absence of heterozygosity was observed in all 3 index cases over a 1.5- to 3-Mb region. Samples from the parents of two cases were obtained, and microsatellites across 1q21.1 were genotyped. One of the apparently unaffected parents was found to carry this deletion. All 3 index cases presented with obstruction of the aortic arch as the common structural cardiac malformation, and had no consistent dysmorphic features. Genotyping of 520 unrelated normal controls for this deletion was negative. We hypothesize that this 1q21.1 multigene deletion is associated with a range of cardiac defects, with anomalies of the aortic arch being a particular feature.

Integration of combined heteroduplex/restriction fragment length polymorphism analysis on an electrophoresis microchip for the detection of hereditary haemochromatosis.

This work describes an integrated method of enzymatic digestion, heteroduplex analysis (HA) and electrophoretic sizing on a microfluidic chip. HA techniques based on microchip electrophoresis are capable of the high sensitivity detection of subtle mutations such as single nucleotide polymorphisms (SNPs) but are not readily able to detect homozygous mutant genotypes. Such homozygous conditions are commonly encountered with the gene implicated in hereditary haemochromatosis, HFE. We employed the restriction fragment length polymorphism (RFLP) method of mutation detection to complement the HA method in a rapid novel on-chip procedure that separated digested PCR fragments to reliably determine the presence or absence of the most important mutations associated with haemochromatosis. This method was able to distinguish the homozygous mutant, heterozygous and homozygous wildtype genotypes. The mutations investigated here (C282Y, H63D and S65C) are often the mutation targets used in the genetic testing for haemochromatosis. This method provides the extremely specific digestion methods needed for the analysis of the known and relatively common mutations that have a significant probability of occurring in a homozygous form. However, the high sensitivity of the HA method is useful in detecting other mutations of lesser likelihood which, by virtue of their rarity, are likely to be present only in a heterozygous form. Although the conventional methods of analysing these mutations require as much as a day to perform, this microchip method, even without robotics or multiplexed operation, can be performed in about 10 min per sample.

Heteroduplex-based genotyping with microchip electrophoresis and dHPLC.

This work compares the methods of mutation detection via denaturing high-performance liquid chromatography (dHPLC) and a microchip-based heteroduplex analysis (HA) method. The mutations analyzed were 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 with, as additional examples, 188del11 and 5396 + 1G --> A in BRCA1. Our HA method is based upon the use of a replaceable, highly denaturing sieving matrix that has dynamic coating capabilities, rendering our method relatively insensitive to contamination. We have found significant advantages in the microchip analysis in terms of reagent consumption, ease of use, versatility, simplicity of the protocol, the lack of constraints upon sample preparation or content, and the lack of parameters that need be adjusted. Although HA methods have a lower sensitivity than that of dHPLC, the electropherograms of the present HA method appear to provide more information and may allow mutations within the same amplicon to be distinguished. Although the dHPLC method has a remarkably high sensitivity, with this sensitivity there come constraints that may prevent it, in its present form, from being used in some applications, particularly those involving higher levels of integration. The advantages of the present HA method, along with recent developments in microchip-based single-nucleotide polymorphism (SNP) detection and high-throughput arrays, suggest that microchip-based systems could provide compact and integrated platforms capable of large-scale genotyping or mutational screening.