ORCID Profile
0000-0002-2797-0782
Current Organisation
University of Tasmania
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Publisher: Elsevier BV
Date: 02-2012
Publisher: AIP Publishing
Date: 09-2023
DOI: 10.1063/5.0170225
Publisher: Elsevier BV
Date: 04-2014
Publisher: Elsevier BV
Date: 03-2016
Publisher: Wiley
Date: 1991
Abstract: The clinical similarity with the X-linked muscular dystrophies and the uniqueness of the homology between the DMD-like and the 1.8 kb sequences at the carboxyterminal domain of the dystrophin gene led to the suggestion that this 6q sequence might be a strong candidate for one of the autosomal recessive muscular dystrophies. Thus, we tested, through linkage analysis, if 6q probes flanking the dystrophin-homologous sequence are linked to the gene responsible for limb-girdle dystrophy (LGMD). A total of 226 in iduals (57 patients and 169 unaffected relatives) from 19 large unrelated Brazilian families was studied. Results of two-point analysis excluded linkage with MYB (6q22-23) and ESR (6q24-q27) at 8 = 0.10 and with TCP1 (6q25-q27) at 0 = 0.05, indicating that the LGMD gene is not in the 6q23-q27 region. Therefore, the dystrophin-homologue sequence is not the gene responsible for LGMD.
Publisher: Springer Science and Business Media LLC
Date: 13-02-2015
Publisher: Elsevier BV
Date: 2013
Publisher: Elsevier BV
Date: 02-2014
Publisher: Elsevier BV
Date: 03-2014
Publisher: Elsevier BV
Date: 06-2015
Publisher: Elsevier BV
Date: 07-2014
Publisher: Elsevier BV
Date: 08-2012
Publisher: Elsevier BV
Date: 08-2019
Publisher: Oxford University Press (OUP)
Date: 31-01-2013
DOI: 10.1093/BRAIN/AWS348
Abstract: Mutations in the TPM2 gene, which encodes β-tropomyosin, are an established cause of several congenital skeletal myopathies and distal arthrogryposis. We have identified a TPM2 mutation, p.K7del, in five unrelated families with nemaline myopathy and a consistent distinctive clinical phenotype. Patients develop large joint contractures during childhood, followed by slowly progressive skeletal muscle weakness during adulthood. The TPM2 p.K7del mutation results in the loss of a highly conserved lysine residue near the N-terminus of β-tropomyosin, which is predicted to disrupt head-to-tail polymerization of tropomyosin. Recombinant K7del-β-tropomyosin incorporates poorly into sarcomeres in C2C12 myotubes and has a reduced affinity for actin. Two-dimensional gel electrophoresis of patient muscle and primary patient cultured myotubes showed that mutant protein is expressed but incorporates poorly into sarcomeres and likely accumulates in nemaline rods. In vitro studies using recombinant K7del-β-tropomyosin and force measurements from single dissected patient myofibres showed increased myofilament calcium sensitivity. Together these data indicate that p.K7del is a common recurrent TPM2 mutation associated with mild nemaline myopathy. The p.K7del mutation likely disrupts head-to-tail polymerization of tropomyosin, which impairs incorporation into sarcomeres and also affects the equilibrium of the troponin/tropomyosin-dependent calcium switch of muscle. Joint contractures may stem from chronic muscle hypercontraction due to increased myofibrillar calcium sensitivity while declining strength in adulthood likely arises from other mechanisms, such as myofibre decompensation and fatty infiltration. These results suggest that patients may benefit from therapies that reduce skeletal muscle calcium sensitivity, and we highlight late muscle decompensation as an important cause of morbidity.
Publisher: Elsevier BV
Date: 11-2016
Publisher: Elsevier BV
Date: 05-2018
Publisher: Elsevier BV
Date: 06-2015
Publisher: Elsevier BV
Date: 12-2016
Publisher: Springer Science and Business Media LLC
Date: 08-2013
Publisher: Elsevier BV
Date: 06-2014
Publisher: Elsevier BV
Date: 10-2015
Publisher: Elsevier BV
Date: 11-2018
Publisher: Elsevier BV
Date: 09-2014
Publisher: Elsevier BV
Date: 11-2018
Publisher: Elsevier BV
Date: 03-2016
Publisher: Elsevier BV
Date: 09-2015
Publisher: Elsevier BV
Date: 05-2018
Publisher: Elsevier BV
Date: 2016
Publisher: Elsevier BV
Date: 09-2018
Publisher: Elsevier BV
Date: 02-2020
Publisher: Elsevier BV
Date: 04-2021
Publisher: AIP Publishing
Date: 2023
DOI: 10.1063/5.0139057
Abstract: Thermal convection driven by an internal heat source in a two-dimensional enclosure filled with viscoplastic fluids is investigated numerically. Two vertical side walls of the cavity are isotherms with the same low temperatures, while the horizontal walls are adiabatic and insulated. An exact Bingham model is applied in the constitutive equation for the viscoplastic fluid. A lattice Boltzmann method (LBM) is developed to solve the introduced non-dimensional macroscopic equations, and the derivations of the LBM are presented and discussed. The implemented LBM is validated against previous studies of internal natural convection. The effects of the Rayleigh–Roberts number, the Prandtl number, the aspect ratio of the cavity, and the inclined angle of the enclosure on the yielded/unyielded parts are investigated and reported. The maximum (or critical) Bingham (Bn) and yield (Y) numbers for the studied parameters are investigated through the defined Nusselt number. The results are depicted by the contours of isotherms, streamlines, yielded/unyielded zones, vorticity, and horizontal and vertical velocities. In addition, the temperatures and velocities in the middle of the cavity as well as the Nusselt number are shown and discussed. It was revealed that the maximum (or critical) yield number is independent of Rayleigh–Roberts and Prandtl numbers same as external natural convection. The values of the critical yield number decrease gradually as the inclined angle rises counterclockwise. However, the critical yield number enhances with the increase in the aspect ratio although the augmentation is not linear and steady.
Publisher: National Library of Serbia
Date: 2015
Abstract: In this paper Lattice Boltzmann simulation of turbulent natural convection with large-eddy simulations (LES) in tall enclosures which is filled by air with Pr=0.71 has been studied. Calculations were performed for high Rayleigh numbers (Ra=107-109) and aspect ratios change between 0.5 to 2 (0.5 AR ). The present results are validated by finds of an experimental research at Ra=1.58x109. Effects of the aspect ratios in different Rayleigh numbers are displayed on streamlines, isotherm counters, vertical velocity and temperature at the middle of the cavity, local Nusselt number and average Nusselt number. The average Nusselt number increases with the augmentation of Rayleigh numbers. The increment of the aspect ratio causes heat transfer to decline in different Rayleigh numbers.
Publisher: Elsevier BV
Date: 09-2015
Publisher: AIP Publishing
Date: 2019
DOI: 10.1063/1.5074089
Abstract: In this paper, a two-dimensional double diffusive natural convection in a porous cavity filled with viscoplastic fluids is simulated. The dimensional and non-dimensional macroscopic equations are presented, employing the Papanastasiou model for viscoplastic fluids and the Darcy–Brinkman–Forchheimer model for porous media. An innovative approach based on a modification of the lattice Boltzmann method is explained and validated with previous studies. The effects of the pertinent dimensionless parameters are studied in different ranges. The extensive results of streamlines, isotherms, and isoconcentration contours, yielded/unyielded regions, and local and average Nusselt and Sherwood numbers are presented and discussed.
Publisher: AIP Publishing
Date: 03-2022
DOI: 10.1063/5.0084694
Abstract: A mesoscopic method based on a lattice Boltzmann method (LBM) for simulation of Newtonian and non-Newtonian nanofluids has been introduced. This investigation is a continuation of our recent study [G. H. R. Kefayati and A. Bassom, “A lattice Boltzmann method for single and two phase models of nanofluids: Newtonian and non-Newtonian nanofluids,” Phys. Fluids 33, 102008 (2021)], which proposed a two-dimensional LBM for a non-homogeneous model of nanofluids with Brownian diffusion and thermophoresis. Here, this model is improved by considering thermodynamic consistency, deposition rate, nanoparticle thermal dispersion, and hydrodynamic interactions around the nanoparticles, which are evaluated and reported in some thermodynamic and experimental observations. The proposed method is also developed for three-dimensional cases, applying all the above-mentioned elements. The revised macroscopic governing equations of mass (one for the carrier fluid and the other for the nanoparticles), momentum, and energy by considering the newly mentioned elements are presented, and then the proposed LBM, which has the ability to recover equations, is introduced while the derivations and proofs are provided. Different elements of the present code are validated with previous studies and demonstrated good agreement. To apply and evaluate the model in a case study, natural convection of Newtonian, shear-thinning, and viscoplastic nanofluids in a side-heated two-dimensional square enclosure and in a cubic cavity are investigated. The results for various volume fractions of nanofluids and Grashof numbers are shown in the formats of isotherms, streamlines, nanoparticle distributions, and local and average Nusselt numbers on the hot wall. In addition, the yielded/unyielded regions for viscoplastic nanofluids are defined and depicted.
Publisher: Elsevier BV
Date: 02-2015
Publisher: Elsevier BV
Date: 07-2015
Publisher: Elsevier BV
Date: 09-2017
Publisher: Begell House
Date: 2012
Publisher: The Company of Biologists
Date: 2019
DOI: 10.1242/DMM.041244
Abstract: X-linked myopathy with excessive autophagy (XMEA) is a muscle genetic disease associated to weakness of proximal muscles. It is caused by mutations in the VMA21 gene, coding for a chaperone that functions in the vacuolar ATPase (v-ATPase) assembly. Mutations associated to lower content of assembled v-ATPases lead to an increase in lysosomal pH, culminating in a partial blockage of macroautophagy, with accumulation of vacuoles of undigested content. Here, we studied a five-year-old boy affected by XMEA, caused by a small indel in the VMA21 gene. Detection of sarcoplasmic Lc3-positive vacuoles in his muscle biopsy confirmed an autophagy defect. To understand how autophagy is regulated in XMEA myogenesis, we used patient-derived muscle cells to evaluate autophagy during in vitro muscle differentiation. An increase in lysosomal pH was observed in patient's cells, compatible with predicted functional defect of his mutation. Additionally, there was an increase in autophagic flux in XMEA myotubes. Interestingly, we observed that differentiation of XMEA myoblasts is altered, with increased myotube formation observed through higher fusion index, which was not dependent on lysosomal acidification. Moreover, no variation in the expression of myogenic factors nor the presence of regenerating fibers in the patient's muscle were observed. Since myoblast fusion is a tightly regulated process, the uncontrolled fusion of XMEA myoblasts might generate cells that are not as functional as normal muscle cells. Our data bring new evidences for the reason of a predominant muscle involvement, in the context of the XMEA phenotype.
Publisher: Elsevier BV
Date: 05-2018
Publisher: Elsevier BV
Date: 11-2016
Publisher: Elsevier BV
Date: 07-2013
Publisher: AIP Publishing
Date: 11-2022
DOI: 10.1063/5.0124292
Abstract: We present an updated comprehensive macroscopic model of nanofluids, considering a revisited local thermal non-equilibrium (LTNE) condition to study the temperature difference between carrier fluid and nanoparticles. A new relation for thermal conductivity of solid and liquid phases in the LTNE condition is introduced which considers the possible particle aggregation. This model is thermodynamically consistent and covers the non-Newtonian models of nanofluids, including power-law and viscoplastic ones. A mesoscopic scheme based on the lattice Boltzmann method (LBM) which satisfies the presented macroscopic equations is introduced and derived. This investigation is a further development of our recent studies[G. H. R. Kefayati and A. Bassom, “A lattice Boltzmann method for single and two phase models of nanofluids: Newtonian and non-Newtonian nanofluids,” Phys. Fluids 33, 102008 (2021) G. H. R. Kefayati, “A two- and three-dimensional mesoscopic method for an updated non-homogeneous model of Newtonian and non-Newtonian nanofluids,” Phys. Fluids 34, 032003 (2022).] for simulating and analyzing nanofluids by a two-phase model. To assess the present numerical method, it is studied for a benchmark problem of natural convection in a cavity. The dimensional and non-dimensional macroscopic equations for the mentioned benchmark are defined and the implemented non-dimensional relations of LBM are shown. The present approach is verified with the obtained results of the mixture approach and a previous two-phase model, which demonstrated the accuracy of the presented method. The results including the temperature distributions of the solid and fluid phases, the nanoparticles distributions, and fluid flow behavior as well as the yielded/unyielded sections for the viscoplastic nanofluids are shown and discussed for the defined non-dimensional parameters. It was also demonstrated that the previous proposed thermal conductivity model of nanofluids in the LTNE approach generates a significantly different value compared to experimental results, and the current suggested model produces reliable results to the experimental ones.
Publisher: Springer Science and Business Media LLC
Date: 14-03-2014
Publisher: Elsevier BV
Date: 03-2015
Publisher: Elsevier BV
Date: 2018
Publisher: Wiley
Date: 27-12-2011
DOI: 10.1002/HTJ.20402
Publisher: Elsevier BV
Date: 05-2019
Publisher: Springer Science and Business Media LLC
Date: 13-11-2013
Publisher: Informa UK Limited
Date: 09-12-2014
Publisher: Elsevier BV
Date: 10-2016
Publisher: AIP Publishing
Date: 03-2021
DOI: 10.1063/5.0042526
Abstract: A mesoscopic method based on the lattice Boltzmann method for thermal–solutal incompressible non-Newtonian power-law fluids through porous media is introduced. The macroscopic equations of different representative element volume (REV) models of porous media are presented, and the equations of power-law fluids through porous media for various REV models reported. The general mesoscopic model for two- and three-dimensional cases are presented, and their derivations shown. To demonstrate the ability of the proposed method, natural convection and double-diffusive natural convection of Newtonian and power-law fluids in porous cavities are studied, and the results are validated against previous findings. Finally, double-diffusive natural convection in a porous cubic cavity filled with a non-Newtonian power-law fluid is simulated by the proposed method.
Publisher: AIP Publishing
Date: 2023
DOI: 10.1063/5.0130947
Abstract: A finite difference lattice Boltzmann method (FDLBM) for the simulation of mud and debris flows for one-dimensional cases has been introduced. The proposed FDLBM recovers the generalized equations of mud and debris flows, that is, an unsteady one-dimensional Saint-Venant equation, including the effects of the non-Newtonian behavior of the mixture of water and soil, contraction–expansion losses (or large eddy loss), wind force, various geometries, and lateral inflow or outflow. The proposed FDLBM can be implemented for various non-Newtonian viscoplastic constitutive models of the studied mud and debris flows. The method is validated against previous studies for several benchmark cases, including steady-state problems, hydraulic jump tests, dam breaks with dry and wet beds, and slope dam break floods. Finally, the Anhui debris dam failure flood was investigated by this approach, and the results demonstrated a good agreement with the observed computational and field tests.
Publisher: AIP Publishing
Date: 10-2021
DOI: 10.1063/5.0067744
Abstract: Nanofluids play an important role in many different industries for an improvement of heat transfer. The modeling and simulation of such fluids is developing continuously. Two important models for studying nanofluids are mixture (or single-phase) and two-phase (or Buongiorno) forms, which have been examined in various ways. Non-Newtonian behavior of nanofluids (shear-thinning and viscoplasticity) has been observed in experimental tests and simulated in several studies. However, a lattice Boltzmann method (LBM), which can employ either model depending on the particular non-Newtonian constitutive equation, has not been considered to date within the suite of available numerical methods. Here, we propose a comprehensive LBM to simulate both Newtonian and non-Newtonian nanofluids. The approach has the potential to incorporate any format of extra tensor directly and is independent to the relaxation time the upshot is that our method is appropriate for studying non-Newtonian nanofluids. The derivations for both models are presented and discussed in some detail. To evaluate the proposed method, it was compared with previous studies into a benchmark problem, natural convection in a square enclosure filled with Newtonian nanofluids and non-Newtonian fluids. Then, the applied macroscopic and LBM equations, using the power-law and viscoplastic models, for the benchmark are derived and the results are presented.
Publisher: Informa UK Limited
Date: 15-09-2012
Publisher: Springer Science and Business Media LLC
Date: 05-09-2014
Publisher: Elsevier BV
Date: 2018
Publisher: Elsevier BV
Date: 03-2015
Publisher: Elsevier BV
Date: 08-2018
Publisher: Emerald
Date: 28-12-2012
Publisher: Elsevier BV
Date: 07-2011
Publisher: Elsevier BV
Date: 05-2017
Publisher: Elsevier BV
Date: 04-1991
DOI: 10.1016/0022-510X(91)90070-N
Abstract: Facioscapulohumeral muscular dystrophy (FSH) is an autosomal dominant condition with variable expressivity and age dependent penetrance. Linkage studies still did not exclude regions 11, 2q, 6q, 7p, 8p, 10q, 12p and 14p as possible locations for the FSH gene. In the present study we have analysed 80 in iduals (36 patients and 44 normals) belonging to 8 unrelated Brazilian families with 3 probes located on the long arm of chromosome 6:MHB(6q22-q23), ESR(6q24-q27) and TCP1(6q25-q27). Results of linkage analysis suggest that the gene responsible for FSH muscular dystrophy is not in the region 6q23-q27.
Publisher: Elsevier BV
Date: 04-2014
Publisher: Elsevier BV
Date: 08-2018
Publisher: SAGE Publications
Date: 03-2012
Abstract: Recent progress in scientific research has facilitated accurate genetic and neuropathological diagnosis of congenital myopathies. However, given their relatively low incidence, congenital myopathies remain unfamiliar to the majority of care providers, and the levels of patient care are extremely variable. This consensus statement aims to provide care guidelines for congenital myopathies. The International Standard of Care Committee for Congenital Myopathies worked through frequent e-mail correspondences, periodic conference calls, 2 rounds of online surveys, and a 3-day workshop to achieve a consensus for diagnostic and clinical care recommendations. The committee includes 59 members from 10 medical disciplines. They are organized into 5 working groups: genetics/diagnosis, neurology, pulmonology, gastroenterology/nutrition/speech/oral care, and orthopedics/rehabilitation. In each care area the authors summarize the committee’s recommendations for symptom assessments and therapeutic interventions. It is the committee’s goal that through these recommendations, patients with congenital myopathies will receive optimal care and improve their disease outcome.
Publisher: Elsevier BV
Date: 07-2014
Publisher: Elsevier BV
Date: 10-2014
Publisher: MDPI AG
Date: 03-2020
DOI: 10.3390/EN13051065
Abstract: The condensate on the surface of the minichannel heat exchanger generated during air cooling substantially reduces the heat transfer performance as it works as an evaporator in the air-conditioning system. This has received much attention in scientific communities. In this paper, the effect of operating parameters on the heat transfer performance of a minichannel heat exchanger (MHE) is investigated under an evaporator working condition. An experimental MHE test system is developed for this purpose, and extensive experimental studies are conducted under a wide range of working conditions using the water-cooling method. The inlet air temperature shows a large effect on the overall heat transfer coefficient, while the inlet air relative humidity shows a large effect on the condensate aggregation rate. The airside heat transfer coefficient increases from 66 to 81 W/(m2·K) when the inlet air temperature increases from 30 to 35 °C. While the condensate aggregation rate on the MHE surface increases by up to 1.8 times when the relative humidity increases from 50% to 70%. The optimal air velocity, 2.5 m/s, is identified in terms of the heat transfer rate and airside heat transfer coefficient of the MHE. It is also found that the heat transfer rate and overall heat transfer coefficient increase as the air velocity increases from 1.5 to 2.5 m/s and decreases above 2.5 m/s. Furthermore, a large amount of condensate accumulates on the MHE surface lowering the MHE heat transfer. The inclined installation angle of the MHE in the wind tunnel effectively enhances heat transfer performance on the MHE surface. The experimental results provide useful information for reducing condensate accumulation and enhancing microchannel heat transfer.
Publisher: Elsevier BV
Date: 11-2014
Publisher: Elsevier BV
Date: 02-2014
Publisher: AIP Publishing
Date: 03-2023
DOI: 10.1063/5.0142490
Abstract: Natural convection of Bingham plastics in a cavity with differentially heated walls and an internal heat source is investigated numerically. The governing dimensional and non-dimensional macroscopic equations are presented, and the constitutive equation is written based on an exact Bingham model. The implemented lattice Boltzmann method is explained and showed how to derive the presented governing equations. The code is validated and verified against previous studies and exhibited a good agreement. The results are demonstrated and discussed for various non-dimensional parameters of Rayleigh (R = 102–104), Rayleigh–Roberts (RR = 102–106), Prandtl (Pr = 0.1–100), Bingham (Bn), and Yield (Y) numbers. The effects of the parameters are depicted on isotherms, yielded/unyielded zones, streamlines, and the lines of temperatures and velocities in the middle of the cavity. The maximum (or critical) Yield number (Ym) is found in the studied parameters and reported. The Yield number is independent of the Rayleigh and Prandtl numbers in a fixed ratio of R and RR (Δ = RR/R), like the external and internal convection. However, the alteration of Δ changes the unique value of the Yield number. We considered the three ratios of Δ = 1, 10, and 100 and the single maximum Yield number of the ratios for zero inclined angles (θ=0°) were observed at Ym=0.038,0.073, and 0.38, respectively. The increase in the inclined angle counter-clockwise expands the unyielded zones and declines the maximum Yield number.
Publisher: Elsevier BV
Date: 11-2018
Publisher: MDPI AG
Date: 08-06-2020
DOI: 10.3390/EN13112946
Abstract: Designing the most efficient parabolic trough solar collector (PTSC) is still a demanding and challenging research area in solar energy systems. Two effective recommended methods for this purpose that increase the thermal characteristics of PTSCs are adding turbulators and nanofluids. To study the effects of the two approaches on the energy efficiency of PTSCs, a stainless steel turbulator was used and solid nanoparticles of Cu/SBA-15 were added to the water with the volume concentrations of 0.019% to 0.075%. The generated turbulence in the fluid flow was modeled by the SST k–ω turbulent model. The results in daylight demonstrated that energy efficiency increases steadily by 11:30 a.m., and then, starts to drop gradually due to more irradiations at noon. It was observed that applying the turbulator to the studied PTSC has a significant influence on the enhancement of energy efficiency. Adding the nanoparticles augmented the average Nusselt number inside the solar collector in various studied Reynolds numbers. It was also found that the increase in volume concentrations of nanoparticles enhances heat transfer regularly.
Publisher: Elsevier BV
Date: 07-2016
Publisher: Elsevier BV
Date: 03-2019
Publisher: AIP Publishing
Date: 07-2020
DOI: 10.1063/5.0013977
Abstract: An immersed boundary-lattice Boltzmann method is introduced that can be employed for different thermal and thermo-solutal problems of Newtonian and non-Newtonian fluids. The general macroscopic and mesoscopic equations are presented and discussed. It is shown and proved that the macroscopic equations are satisfied by the proposed lattice Boltzmann equations. This approach removes the limitation of the conventional lattice Boltzmann method in constitutive equations and boundary conditions. To validate the accuracy of the method, it is compared against several cases of complex geometries with curved boundaries for natural convection in enclosures. To demonstrate the ability of this method for the simulation of thermo-solutal flows of non-Newtonian fluids with curved boundaries, double diffusive natural convection of Carreau fluid between a square cylinder and two circular cylinders is investigated and results are reported. Next, double diffusive mixed convection of a Bingham fluid in a cavity with a curved boundary condition is studied.
Publisher: Elsevier BV
Date: 07-2017
Publisher: Elsevier BV
Date: 08-2015
Publisher: Emerald
Date: 03-10-2016
Abstract: The thermal-diffusion (Soret) and the diffusion-thermo (Dufour) effects play a crucial role in double diffusive mixed convection in a lid-driven cavity but they have not been studied properly by researchers. The purpose of this paper is to investigate effects of Soret and Dufour parameters on double diffusive laminar mixed convection of shear-thinning and Newtonian fluids in a two-sided lid-driven cavity. Finite Difference Lattice Boltzmann method (FDLBM) has been applied to solve the complex problem. This study has been conducted for the certain pertinent parameters of Richardson number (Ri=0.00062-1), power-law index (n=0.2-1), Soret parameter (Sr=−5-5) as Dufour number effects have been investigated from Dr=−5 to 5 at Buoyancy ratio of N=1 and Lewis number of Le=5. Results indicate that the augmentation of Richardson number causes heat and mass transfer to decrease. The fall of the power-law index declines heat and mass transfer at Ri=0.00062 and 0.01 in various Dufour and Soret parameters. At Ri=1, the heat and mass transfer rise with the increment of power-law index for Dr=0 and Sr=0. The least effect of power-law index on heat and mass transfer among the studied Richardson numbers was observed at Ri=1. The positive Dufour numbers augment the heat transfer gradually as the positive Soret numbers enhance the mass transfer. The Dr=−5 and Sr=−5 provokes the negative average Nusselt and Sherwood numbers, respectively, to be generated. The least magnitude of the average Nusselt and Sherwood numbers were obtained at Dr=−1 and Sr=−1, respectively. Soret and Dufour effects in double diffusive mixed convection has not been studied in a lid-driven cavity. In addition. this study has been conducted also for shear-thinning fluids.
Publisher: Wiley
Date: 07-08-2015
DOI: 10.1002/HTJ.21191
Publisher: Elsevier BV
Date: 08-2018
Publisher: Elsevier BV
Date: 2017
Publisher: Elsevier BV
Date: 09-2017
Publisher: Elsevier BV
Date: 07-2015
Publisher: Elsevier BV
Date: 07-2016
Publisher: MDPI AG
Date: 09-10-2022
Abstract: Nemaline myopathy (NM), a structural congenital myopathy, presents a significant clinical and genetic heterogeneity. Here, we compiled molecular and clinical data of 30 Brazilian patients from 25 unrelated families. Next-generation sequencing was able to genetically classify all patients: sixteen families (64%) with mutation in NEB, five (20%) in ACTA1, two (8%) in KLHL40, and one in TPM2 (4%) and TPM3 (4%). In the NEB-related families, 25 different variants, 11 of them novel, were identified splice site (10/25) and frame shift (9/25) mutations were the most common. Mutation c.24579 G C was recurrent in three unrelated patients from the same region, suggesting a common ancestor. Clinically, the “typical” form was the more frequent and caused by mutations in the different NM genes. Phenotypic heterogeneity was observed among patients with mutations in the same gene. Respiratory involvement was very common and often out of proportion with limb weakness. Muscle MRI patterns showed variability within the forms and genes, which was related to the severity of the weakness. Considering the high frequency of NEB mutations and the complexity of this gene, NGS tools should be combined with CNV identification, especially in patients with a likely non-identified second mutation.
Start Date: 2021
End Date: 2023
Funder: University of Tasmania
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