BPPV Simulation: A Powerful Tool to Understand and Optimize the Diagnostics and Treatment of all Possible Variants of BPPV.
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ABSTRACT:
SUBMITTER: Bhandari A
PROVIDER: S-EPMC8032929 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:To analyze the mechanism and clinical significance of Benign paroxysmal positional vertigo (BPPV) fatigability and discuss how to eliminate BPPV fatigability. A physical simulation model of BPPV was developed to observe the effect of the Dix-Hallpike test on otolith location and explore strategies to eliminate fatigability. Dix-Hallpike test can keep the otoliths in the lower arm of the posterior semicircular canal away from the ampulla. When the head is tilted 30° forward, the otolith slides to the lower arm near the ampulla, which is sufficient to ensure that the starting position of the otolith is consistent when the Dix-Hallpike test is repeated. When the head is tilted 60° forward, the otolith can enter the ampulla and reach the bottom of the crista ampullaris, which leads to long latency because the otolith sliding in the ampulla does not cause an obvious hydrodynamic effect during the Dix-Hallpike test. The otoliths located on the short arm side of the posterior semicircular canal will break away from the short arm side and enter the utricle when the head is tilted 120° forward. The stable and consistent nystagmus induced by the improved diagnostic test may be a more important feature of BPPV.
| S-EPMC9121120 | biostudies-literature
Project description:The objective of this research was to investigate the mechanism of canal switching in benign paroxysmal positional vertigo through a virtual simulation model. Using Unity 3D software and a built-in NVIDIA Physx physics engine, the virtual simulation software is developed using a browser-server architecture, and different models are imported. Based on the benign paroxysmal positional vertigo virtual simulation model, we constructed five different virtual reality scenes of diagnosis and treatment, set otoliths in different positions of the semicircular canals, and analyzed the effects of diagnostic and therapeutic procedures on otolith location. Through the analysis of otolith movement in five virtual scenes, we found that canal switching may be caused by otoliths in the utricle entering the semicircular canal in the supine position. Then, we used different methods to reposition the otolith, improved the repositioning maneuver, and explored in depth the mechanism of the canal switching. The results showed that the main reason for the canal switch is that in the supine position, the otolith in the utricle enters the semicircular canal. The repositioning maneuvers, including the Epley maneuver and Barbecue maneuver, will not directly lead to the canal switch in the ipsilateral inner ear. The supine roll maneuver leads to the otolith in the utricle entering the posterior or lateral semicircular canal, which is the most likely mechanism for canal switching.
| S-EPMC9326062 | biostudies-literature
Project description:Background. Most genetic disorders are caused by single nucleotide variations (SNVs) or small insertion/deletions (indels). High throughput sequencing has broadened the catalogue of human variation, including common polymorphisms, rare variations or disease causing mutations. However, identifying one variation among hundreds or thousands of others is still a complex task for biologists, geneticists and clinicians. Results. We have developed VaRank, a command-line tool for the ranking of genetic variants detected by high-throughput sequencing. VaRank scores and prioritizes variants annotated either by Alamut Batch or SnpEff. A barcode allows users to quickly view the presence/absence of variants (with homozygote/heterozygote status) in analyzed samples. VaRank supports the commonly used VCF input format for variants analysis thus allowing it to be easily integrated into NGS bioinformatics analysis pipelines. VaRank has been successfully applied to disease-gene identification as well as to molecular diagnostics setup for several hundred patients. Conclusions. VaRank is implemented in Tcl/Tk, a scripting language which is platform-independent but has been tested only on Unix environment. The source code is available under the GNU GPL, and together with sample data and detailed documentation can be downloaded from http://www.lbgi.fr/VaRank/.
| S-EPMC4358652 | biostudies-literature
Project description:BackgroundMolecular diagnostics has become essential in the identification of many infectious and neglected diseases, and the detection of nucleic acids often serves as the gold standard technique for most infectious agents. However, established techniques like polymerase chain reaction (PCR) are time-consuming laboratory-bound techniques while rapid tests such as Lateral Flow Immunochromatographic tests often lack the required sensitivity and/or specificity.Methods/principle findingsHere we present an affordable, highly mobile alternative method for the rapid identification of infectious agents using pulse-controlled amplification (PCA). PCA is a next generation nucleic acid amplification technology that uses rapid energy pulses to heat microcyclers (micro-scale metal heating elements embedded directly in the amplification reaction) for a few microseconds, thus only heating a small fraction of the reaction volume. The heated microcyclers cool off nearly instantaneously, resulting in ultra-fast heating and cooling cycles during which classic amplification of a target sequence takes place. This reduces the overall amplification time by a factor of up to 10, enabling a sample-to-result workflow in just 15 minutes, while running on a small and portable prototype device. In this proof of principle study, we designed a PCA-assay for the detection of Yersinia pestis to demonstrate the efficacy of this technology. The observed detection limits were 434 copies per reaction (purified DNA) and 35 cells per reaction (crude sample) respectively of Yersinia pestis.Conclusions/significancePCA offers fast and decentralized molecular diagnostics and is applicable whenever rapid, on-site detection of infectious agents is needed, even under resource limited conditions. It combines the sensitivity and specificity of PCR with the rapidness and simplicity of hitherto existing rapid tests.
| S-EPMC7875409 | biostudies-literature
Project description:BackgroundNext-generation sequencing (NGS) is an efficient tool used for identifying pathogenic variants that cause Mendelian disorders. However, the lack of bioinformatics training of researchers makes the interpretation of identified variants a challenge in terms of precision and efficiency. In addition, the non-standardized phenotypic description of human diseases also makes it difficult to establish an integrated analysis pathway for variant annotation and interpretation. Solutions to these bottlenecks are urgently needed.ResultsWe develop a tool named "Cruxome" to automatically annotate and interpret single nucleotide variants (SNVs) and small insertions and deletions (InDels). Our approach greatly simplifies the current burdensome task of clinical geneticists and scientists to identify the causative pathogenic variants and build personal knowledge reference bases. The integrated architecture of Cruxome offers key advantages such as an interactive and user-friendly interface and the assimilation of electronic health records of the patient. By combining a natural language processing algorithm, Cruxome can efficiently process the clinical description of diseases to HPO standardized vocabularies. By using machine learning, in silico predictive algorithms, integrated multiple databases and supplementary tools, Cruxome can automatically process SNVs and InDels variants (trio-family or proband-only cases) and clinical diagnosis records, then annotate, score, identify and interpret pathogenic variants to finally generate a standardized clinical report following American College of Medical Genetics and Genomics/ Association for Molecular Pathology (ACMG/AMP) guidelines. Cruxome also provides supplementary tools to examine and visualize the genes or variations in historical cases, which can help to better understand the genetic basis of the disease.ConclusionsCruxome is an efficient tool for annotation and interpretation of variations and dramatically reduces the workload for clinical geneticists and researchers to interpret NGS results, simplifying their decision-making processes. We present an online version of Cruxome, which is freely available to academics and clinical researchers. The site is accessible at http://114.251.61.49:10024/cruxome/ .
| S-EPMC8173893 | biostudies-literature
Project description:Patients diagnosed with chromosome microdeletions or duplications, known as copy number variants (CNVs), present a unique opportunity to investigate the relationship between patient genotype and cell phenotype. CNVs have high genetic penetrance and give a good correlation between gene locus and patient clinical phenotype. This is especially effective for the study of patients with neurodevelopmental disorders (NDD), including those falling within the autism spectrum disorders (ASD). A key question is whether this correlation between genetics and clinical presentation at the level of the patient can be translated to the cell phenotypes arising from the neurodevelopment of patient induced pluripotent stem cells (iPSCs).Here, we examine how iPSCs derived from ASD patients with an associated CNV inform our understanding of the genetic and biological mechanisms underlying the aetiology of ASD. We consider selection of genetically characterised patient iPSCs; use of appropriate control lines; aspects of human neurocellular biology that can capture in vitro the patient clinical phenotype; and current limitations of patient iPSC-based studies. Finally, we consider how future research may be enhanced to maximise the utility of CNV patients for research of pathological mechanisms or therapeutic targets.
| S-EPMC7268297 | biostudies-literature
Project description:Background The preferred supine roll test for the diagnosis of horizontal semicircular canal BPPV has several disadvantages, including difficulty in locating the affected ear, inconsistent nystagmus performance on repeated testing, and lack of a typical latency period, resulting in insensitive diagnosis. Objectives To investigate novel diagnostic techniques with more scientific design, more accessible application, and better diagnostic sensitivity and specificity. Materials and methods Based on clinical microscopic CT data, we created a virtual simulation model of BPPV using Unity software. The physical simulation of the traditional supine roll test was performed to observe and analyse the movement of the otoliths, whose initial position was the typical stable position. In addition, the normal vectors of the plane and crista ampullaris of the horizontal semicircular canal were measured using 3D Slicer software. Based on this, we analyzed the critical steps for designing diagnostic maneuvers for BPPV in the horizontal semicircular canal. For a more accurate diagnosis of horizontal semicircular canal BPPV, it is critical to rotate the horizontal semicircular canal to be parallel to gravity. It is also necessary to move the otolith by swinging the head. As a result, we developed two diagnostic maneuvers: the 60° roll test and the prone roll test. We also performed simulations to observe otolith movement and predict nystagmus performance. Conclusions The 60° roll test and the prone roll test can complement the supine roll test. Compared to the supine roll test, they not only effectively differentiate canalolithiasis from cupulolithiasis, but also make it easier to determine the position of the otoliths, and the characteristics of the nystagmus are more pronounced. Significant diagnostic features have significant potential benefits for home and telemedicine.
| S-EPMC9981954 | biostudies-literature
Project description:BackgroundDopamine replacement therapy reduces most motor and nonmotor features of Parkinson's disease. However, with disease progression, adjustments of dopaminergics and the application of advanced therapies must be considered.ObjectivesTo validate the OPTIMIPARK questionnaire as a tool to help clinicians make therapeutic decisions on patients treated with levodopa.MethodsWe tested a questionnaire including 9 items encompassing motor and nonmotor signs, complications, and disability in a multicenter, observational, cross-sectional study. A neurologist (neurologist 1 [N1]) assessed patients according to regular clinical practice and blinded to the OPTIMIPARK questionnaire score. Therapeutic decisions were classified as "no changes," "adjustment of conventional treatment," and "advanced therapy indicated." External neurologists (neurologist 3 [N3] and neurologist 4 [N4]), who only knew the patient age, years of disease, and current treatment, made their therapeutic decisions based on the OPTIMIPARK score. Concordance between the criterion of the N1 versus the OPTIMIPARK-based N3-N4 consensus was analyzed applying weighted κ. The area under Receiving Operating Characteristic (ROC) curves was calculated for OPTIMIPARK scores.ResultsA total of 113 patients with Parkinson's disease were included. The OPTIMIPARK-based decision led to a higher proportion of patients requiring therapeutic modification than N1 assessment (74% vs. 60%; P = 0.002). Concordance between the N1 and N3-N4 decisions was moderate, whereas interobserver agreement among N3 and N4 was high. Area Under the Curve(AUC) values of 0.83 and 0.82 were found for "no changes" and "advanced therapy indicated" decisions by the N1 neurologist.ConclusionsOPTIMIPARK might be more sensitive than regular clinical practice in suggesting the need for a therapeutic change. Furthermore, the low and high scores identify with high accuracy well-adjusted patients and candidates for advanced therapy, respectively.
| S-EPMC9631843 | biostudies-literature
Project description:Skin's effectiveness as a barrier to permeation of water and other chemicals rests almost entirely in the outermost layer of the epidermis, the stratum corneum (SC), which consists of layers of corneocytes surrounded by highly organized lipid lamellae. As the only continuous path through the SC, transdermal permeation necessarily involves diffusion through these lipid layers. The role of the SC as a protective barrier is supported by its exceptional lipid composition consisting of ceramides (CERs), cholesterol (CHOL), and free fatty acids (FFAs) and the complete absence of phospholipids, which are present in most biological membranes. Molecular simulation, which provides molecular level detail of lipid configurations that can be connected with barrier function, has become a popular tool for studying SC lipid systems. We review this ever-increasing body of literature with the goals of (1) enabling the experimental skin community to understand, interpret and use the information generated from the simulations, (2) providing simulation experts with a solid background in the chemistry of SC lipids including the composition, structure and organization, and barrier function, and (3) presenting a state of the art picture of the field of SC lipid simulations, highlighting the difficulties and best practices for studying these systems, to encourage the generation of robust reproducible studies in the future. This review describes molecular simulation methodology and then critically examines results derived from simulations using atomistic and then coarse-grained models.
| S-EPMC10116345 | biostudies-literature
Project description:BackgroundWith the completion of a single nucleotide polymorphism (SNP) chip for honey bees, the technical basis of genomic selection is laid. However, for its application in practice, methods to estimate genomic breeding values need to be adapted to the specificities of the genetics and breeding infrastructure of this species. Drone-producing queens (DPQ) are used for mating control, and usually, they head non-phenotyped colonies that will be placed on mating stations. Breeding queens (BQ) head colonies that are intended to be phenotyped and used to produce new queens. Our aim was to evaluate different breeding program designs for the initiation of genomic selection in honey bees.MethodsStochastic simulations were conducted to evaluate the quality of the estimated breeding values. We developed a variation of the genomic relationship matrix to include genotypes of DPQ and tested different sizes of the reference population. The results were used to estimate genetic gain in the initial selection cycle of a genomic breeding program. This program was run over six years, and different numbers of genotyped queens per year were considered. Resources could be allocated to increase the reference population, or to perform genomic preselection of BQ and/or DPQ.ResultsIncluding the genotypes of 5000 phenotyped BQ increased the accuracy of predictions of breeding values by up to 173%, depending on the size of the reference population and the trait considered. To initiate a breeding program, genotyping a minimum number of 1000 queens per year is required. In this case, genetic gain was highest when genomic preselection of DPQ was coupled with the genotyping of 10-20% of the phenotyped BQ. For maximum genetic gain per used genotype, more than 2500 genotyped queens per year and preselection of all BQ and DPQ are required.ConclusionsThis study shows that the first priority in a breeding program is to genotype phenotyped BQ to obtain a sufficiently large reference population, which allows successful genomic preselection of queens. To maximize genetic gain, DPQ should be preselected, and their genotypes included in the genomic relationship matrix. We suggest, that the developed methods for genomic prediction are suitable for implementation in genomic honey bee breeding programs.
| S-EPMC8323320 | biostudies-literature