1. |
- Tran, Ngoc Hieu, et al.
(författare)
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Genetic profiling of Vietnamese population from large-scale genomic analysis of non-invasive prenatal testing data
- 2020
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Ingår i: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 10:1
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Tidskriftsartikel (refereegranskat)abstract
- The under-representation of several ethnic groups in existing genetic databases and studies have undermined our understanding of the genetic variations and associated traits or diseases in many populations. Cost and technology limitations remain the challenges in performing large-scale genome sequencing projects in many developing countries, including Vietnam. As one of the most rapidly adopted genetic tests, non-invasive prenatal testing (NIPT) data offers an alternative untapped resource for genetic studies. Here we performed a large-scale genomic analysis of 2683 pregnant Vietnamese women using their NIPT data and identified a comprehensive set of 8,054,515 single-nucleotide polymorphisms, among which 8.2% were new to the Vietnamese population. Our study also revealed 24,487 disease-associated genetic variants and their allele frequency distribution, especially 5 pathogenic variants for prevalent genetic disorders in Vietnam. We also observed major discrepancies in the allele frequency distribution of disease-associated genetic variants between the Vietnamese and other populations, thus highlighting a need for genome-wide association studies dedicated to the Vietnamese population. The resulted database of Vietnamese genetic variants, their allele frequency distribution, and their associated diseases presents a valuable resource for future genetic studies.
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2. |
- Buist, Mirka, et al.
(författare)
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Development and Validation of a Wearable Device to Provide Rich Somatosensory Stimulation for Rehabilitation After Sensorimotor Impairment
- 2023
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Ingår i: IEEE Transactions on Biomedical Circuits and Systems. - : Institute of Electrical and Electronics Engineers (IEEE). - 1932-4545 .- 1940-9990. ; 17:3, s. 547-557
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Tidskriftsartikel (refereegranskat)abstract
- Training sensory discrimination of the skin has the potential to reduce chronic pain due to sensorimotor impairments and increase sensorimotor function. Currently, there is no such device that can systematically provide rich skin stimulation suitable for a training protocol for individuals with amputation or major sensory impairment. This study describes the development and validation of a non-invasive wearable device meant to repeatedly and safely deliver somatosensory stimulations. The development was guided by a structured design control process to ensure the verifiability and validity of the design outcomes. Two sub-systems were designed: 1) a tactile display for touch and vibration sensations, and 2) a set of bands for sliding, pressure, and strain sensations. The device was designed with a versatile structure that allows for its application on different body parts. We designed a device-paired interactive computer program to enable structured sensory training sessions. Validation was performed with 11 individuals with intact limbs whose upper arm tactile sensitivity was measured over 5 training sessions. Tactile discrimination and perception threshold were measured using the standard 2-point discrimination and Semmes-Weinstein monofilament tests, respectively. The results of the monofilament test showed a significant improvement (p = 0.011), but the improvement was not significant for the 2-point discrimination test(p = 0.141). These promising results confirm the potential of the proposed training to increase the sensory acuity in the upper arms of individuals with intact limbs. Further studies will be conducted to determine how to transfer the findings of this work to improve the pain and/or functional rehabilitation in individuals with sensorimotor impairments.
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3. |
- Buist, Mirka, et al.
(författare)
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Novel Wearable Device for Mindful Sensorimotor Training: Integrating Motor Decoding and Somatosensory Stimulation for Neurorehabilitation
- 2024
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Ingår i: IEEE Transactions on Neural Systems and Rehabilitation Engineering. - : Institute of Electrical and Electronics Engineers (IEEE). - 1558-0210 .- 1534-4320. ; 32, s. 1515-1523
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Tidskriftsartikel (refereegranskat)abstract
- Sensorimotor impairment is a prevalent condition requiring effective rehabilitation strategies. This study introduces a novel wearable device for Mindful Sensorimotor Training (MiSMT) designed for sensory and motor rehabilitation. Our MiSMT device combines motor training using myoelectric pattern recognition along sensory training using two tactile displays. This device offers a comprehensive solution, integrating electromyography and haptic feedback, lacking in existing devices. The device features eight electromyography channels, a rechargeable battery, and wireless Bluetooth or Wi-Fi connectivity for seamless communication with a computer or mobile device. Its flexible material allows for adaptability to various body parts, ensuring ease of use in diverse patients. The two tactile displays, with 16 electromagnetic actuators each, provide touch and vibration sensations up to 250 Hz. In this proof-of-concept study, we show improved two-point discrimination after 5 training sessions in participants with intact limbs (p=0.047). We also demonstrated successful acquisition, processing, and decoding of myoelectric signals in offline and online evaluations. In conclusion, the MiSMT device presents a promising tool for sensorimotor rehabilitation by combining motor execution and sensory training benefits. Further studies are required to assess its effectiveness in individuals with sensorimotor impairments. Integrating mindful sensory and motor training with innovative technology can enhance rehabilitation outcomes and improve the quality of life for those with sensorimotor impairments.
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4. |
- Elsner, Franz, et al.
(författare)
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Cosmology inference from a biased density field using the EFT-based likelihood
- 2020
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Ingår i: Journal of Cosmology and Astroparticle Physics. - : IOP Publishing. - 1475-7516. ; :1
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Tidskriftsartikel (refereegranskat)abstract
- The effective-field-theory (EFT) approach to the clustering of galaxies and other biased tracers allows for an isolation of the cosmological information that is protected by symmetries, in particular the equivalence principle, and thus is robust to the complicated dynamics of dark matter, gas, and stars on small scales. All existing implementations proceed by making predictions for the lowest-order n-point functions of biased tracers, as well as their covariance, and comparing with measurements. Recently, we presented an EFT-based expression for the conditional probability of the density field of a biased tracer given the matter density field, which in principle uses information from arbitrarily high order n-point functions. Here, we report results based on this likelihood by applying it to halo catalogs in real space, specifically an inference of the power spectrum normalization sigma(8). We include bias terms up to second order as well as the leading higher-derivative term. For a cutoff value of Lambda = 0.1 hMpc(-1), we recover the ground-truth value of sigma(8) to within 95% CL for different halo samples and redshifts. We discuss possible sources for the remaining systematic bias in sigma(8) as well as future developments.
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5. |
- Forslund, Emelie Butler, et al.
(författare)
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A Protocol for Comprehensive Analysis of Gait in Individuals with Incomplete Spinal Cord Injury
- 2024
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Ingår i: Methods and Protocols. - : MDPI AG. - 2409-9279. ; 7:3
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Tidskriftsartikel (refereegranskat)abstract
- This is a protocol for comprehensive analysis of gait and affecting factors in individuals with incomplete paraplegia due to spinal cord injury (SCI). A SCI is a devastating event affecting both sensory and motor functions. Due to better care, the SCI population is changing, with a greater proportion retaining impaired ambulatory function. Optimizing ambulatory function after SCI remains challenging. To investigate factors influencing optimal ambulation, a multi-professional research project was grounded with expertise from clinical rehabilitation, neurophysiology, and biomechanical engineering from Karolinska Institutet, the Spinalis Unit at Aleris Rehab Station (Sweden's largest center for specialized neurorehabilitation), and the Promobilia MoveAbility Lab at KTH Royal Institute of Technology. Ambulatory adults with paraplegia will be consecutively invited to participate. Muscle strength, sensitivity, and spasticity will be assessed, and energy expenditure, 3D movements, and muscle function (EMG) during gait and submaximal contractions will be analyzed. Innovative computational modeling and data-driven analyses will be performed, including the identification of clusters of similar movement patterns among the heterogeneous population and analyses that study the link between complex sensorimotor function and movement performance. These results may help optimize ambulatory function for persons with SCI and decrease the risk of secondary conditions during gait with a life-long perspective.
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6. |
- Nguyen, Nhat-Minh, et al.
(författare)
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Impacts of the physical data model on the forward inference of initial conditions from biased tracers
- 2021
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Ingår i: Journal of Cosmology and Astroparticle Physics. - : IOP Publishing. - 1475-7516. ; :3
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Tidskriftsartikel (refereegranskat)abstract
- We investigate the impact of each ingredient in the employed physical data model on the Bayesian forward inference of initial conditions from biased tracers at the field level. Specifically, we use dark matter halos in a given cosmological simulation volume as tracers of the underlying matter density field. We study the effect of tracer density, grid resolution, gravity model, bias model and likelihood on the inferred initial conditions. We find that the cross-correlation coefficient between true and inferred phases reacts weakly to all ingredients above, and is well predicted by the theoretical expectation derived from a Gaussian model on a broad range of scales. The bias in the amplitude of the inferred initial conditions, on the other hand, depends strongly on the bias model and the likelihood. We conclude that the bias model and likelihood hold the key to an unbiased cosmological inference. Together they must keep the systematics - which arise from the sub-grid physics that are marginalized over - under control in order to obtain an unbiased inference.
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7. |
- Nhat-Minh, Nguyen, et al.
(författare)
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Taking measurements of the kinematic Sunyaev-Zel'dovich effect forward : including uncertainties from velocity reconstruction with forward modeling
- 2020
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Ingår i: Journal of Cosmology and Astroparticle Physics. - : IOP Publishing. - 1475-7516. ; :12
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Tidskriftsartikel (refereegranskat)abstract
- We measure the kinematic Sunyaev-Zel'dovich (kSZ) effect, imprinted by maxBCG clusters, on the Planck SMICA map of the Cosmic Microwave Background (CMB). Our measurement, for the first time, directly accounts for uncertainties in the velocity reconstruction step through the process of Bayesian forward modeling. We show that this often neglected uncertainty budget typically increases the final uncertainty on the measured kSZ signal amplitude by similar or equal to 15% at cluster scales. We observe evidence for the kSZ effect, at a significance of similar or equal to 2 sigma. Our analysis, when applied to future higher-resolution CMB data, together with minor improvements in map-filtering and signal-modeling methods, should yield both significant and unbiased measurements of the kSZ signal, which can then be used to probe and constrain the baryonic content of galaxy clusters and galaxy groups.
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8. |
- Schmidt, Fabian, et al.
(författare)
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A rigorous EFT-based forward model for large-scale structure
- 2019
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Ingår i: Journal of Cosmology and Astroparticle Physics. - : IOP Publishing. - 1475-7516. ; :1
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Tidskriftsartikel (refereegranskat)abstract
- Conventional approaches to cosmology inference from galaxy redshift surveys are based on n-point functions, which are under rigorous perturbative control on sufficiently large scales. Here, we present an alternative approach, which employs a likelihood at the level of the galaxy density field. By integrating out small-scale modes based on effective-field theory arguments, we prove that this likelihood is under perturbative control if certain specific conditions are met. We further show that the information captured by this likelihood is equivalent to the combination of the next-to-leading order galaxy power spectrum, leading-order bispectrum, and BAO reconstruction. Combined with MCMC sampling and MAP optimization techniques, our results allow for fully Bayesian cosmology inference from large-scale structure that is under perturbative control. We illustrate this via a first demonstration of unbiased cosmology inference from nonlinear large-scale structure using this likelihood. In particular, we show unbiased estimates of the power spectrum normalization sigma(8) from a catalog of simulated dark matter halos, where nonlinear information is crucial in breaking the b(1) - sigma(8) degeneracy.
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9. |
- Thi Tuyet-Hanh, Tran, et al.
(författare)
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Climate Variability and Dengue Hemorrhagic Fever in Hanoi, Viet Nam, During 2008 to 2015
- 2018
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Ingår i: Asia Pacific journal of public health. - : Sage Publications. - 1941-2479 .- 1010-5395. ; 30:6, s. 532-541
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Tidskriftsartikel (refereegranskat)abstract
- Dengue fever/dengue hemorrhagic fever (DF/DHF) has been an important public health challenge in Viet Nam and worldwide. This study was implemented in 2016-2017 using retrospective secondary data to explore associations between monthly DF/DHF cases and climate variables during 2008 to 2015. There were 48 175 DF/DHF cases reported, and the highest number of cases occurred in November. There were significant correlations between monthly DF/DHF cases with monthly mean of evaporation (r = 0.236, P < .05), monthly relative humidity (r = −0.358, P < .05), and monthly total hours of sunshine (r = 0.389, P < .05). The results showed significant correlation in lag models but did not find direct correlations between monthly DF/DHF cases and monthly average rainfall and temperature. The study recommended that health staff in Hanoi should monitor DF/DHF cases at the beginning of epidemic period, starting from May, and apply timely prevention and intervention measures to avoid the spreading of the disease in the following months. A larger scale study for a longer period of time and adjusting for other potential influencing factors could better describe the correlations, modelling/projection, and developing an early warning system for the disease, which is important under the impacts of climate change and climate variability.
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