Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan

Muhammad Usman Rashid,Faiz Ali Khan,Noor Muhammad,Asif Loya,Ute Hamann 대한암학회 2019 Cancer Research and Treatment Vol.51 No.3

Purpose Partner and localizer of BRCA2 (PALB2) is a breast cancer susceptibility gene that plays an important role in DNA repair. This is the first study assessing the prevalence of PALB2 mutations in early-onset and familial breast/ovarian cancer patients from Pakistan. Materials and Methods PALB2 mutation screening was performed in 370 Pakistani patients with early-onset and familial breast/ovarian cancer, who were negative for BRCA1, BRCA2, TP53, CHEK2, and RAD51C mutations, using denaturing high-performance liquid chromatography analysis. Mutations were confirmed by DNA sequencing. Novel PALB2 alterations were analyzed for their potential effect on protein function or splicing using various in silico prediction tools. Three-hundred and seventy-two healthy controls were screened for the presence of the identified (potentially) functional mutations. Results A novel nonsense mutation, p.Y743*, was identified in one familial breast cancer patient (1/127, 0.8%). Besides, four in silico-predicted potentially functional mutations including three missense mutations and one 5' untranslated region mutation were identified: p.D498Y, novel p.G644R, novel p.E744K, and novel c.-134_-133delTCinsGGGT. The mutations p.Y743* and p.D498Y were identified in two familial patients diagnosed with unilateral or synchronous bilateral breast cancer at the ages of 29 and 39, respectively. The other mutations were identified in an early-onset (! 30 years of age) breast cancer patient each. All five mutations were absent in 372 healthy controls suggesting that they are disease associated. Conclusion Our findings show that PALB2 mutations account for a small proportion of early-onset and hereditary breast/ovarian cancer cases in Pakistan.

Elimination of solidification shrinkage defects in the casting of aluminum alloy

Rashid Ali,Muhammad Zafar,Tareq Manzoor,Woo-Young Kim,Muhammad Usman Rashid,Syed Zameer Abbas,Behzad Ahmed Zai,Muddassir Ali 대한기계학회 2022 JOURNAL OF MECHANICAL SCIENCE AND TECHNOLOGY Vol.36 No.5

In this study, the analysis is carried out to optimize in-gate position and size of riser for casting mold. The baseline size of riser for the casting of boat propeller is based on geometric modulus and thermal analysis. The riser size is analyzed with thermal-volumetric numerical calculations to predict critical fraction solid (CFS) time and temperature gradient in casting. Simulation predictions are compared with inspection results of actual castings and found good qualitative agreement. The riser reached CFS temperature well before the castings’ cross-sectional transition regions. In feeding the molten metal, the in-gate is placed where the section modulus of casting is higher. However, the tongue of sand at in-gate increases the local cooling rate, resulting in early solidification and blockage of feeding path. The increase in riser size and in-gate position results in elimination of shrinkage cavities. An optical microscopy of the casting critical region is carried out to investigate the effect of numerical measures on internal closed microporosity and microstructure morphology.

Optimality of Linear MIMO Detection for 5G Systems via 1-Opt Local Search

Khurshid Kiran,Khan Adnan Ahmed,Siddiqui Muhammad Haroon,Hadi M. Usman,Rashid Imran,Imran Muhammad 대한전기학회 2021 Journal of Electrical Engineering & Technology Vol.16 No.2

Multiple input multiple output (MIMO) symbol detection problem belongs to non-deterministic polynomial acceptable hard combinatorial optimization (CO) class. One of the key trials in design of MIMO scheme is to develop a low complexity detection algorithm without much compromise in performance. Detection approaches proposed in the literature can be split into non-linear and linear algorithms. Vertical Bell-Labs Layered Space Time (V-BLAST) and Sphere Decoder (SD) are non-linear methods used for extracting transmitted data; whereas, Zero-Forcing (ZF) and Minimum Mean Square Error (MMSE) detections are comparatively in complex and eff ectual linear techniques. In this work, the heuristic 1-Opt local search method used for solving computationally hard combinatorial optimization problems is applied to the ZF and MMSE detection algorithms. First, simple MIMO decoding using ZF and MMSE is accomplished to fi nd the estimated symbol then the transmitted symbol is calculated using the heuristic 1-opt approach by means of the estimated symbol. Simulation results demonstrate that 1-opt search when applied to the ZF and MMSE displays better bit error rate (BER) performance than the simple ZF and MMSE detectors. It is also verifi ed through simulations that the proposed 1-Opt based detectors display better BER performance as compared to the complex nonlinear VBLAST and SD at considerably reduced complexity. Hence, the proposed detectors are appropriate for eff ective hardware implementations.

Inherent irreversibility in unsteady magnetohydrodynamic nanofluid flow past a slippery permeable vertical plate with fractional-order derivative

Khan Zafar H,Makinde Oluwole D,Usman Muhammad,Ahmad Rashid,Khan Waqar A,Huang Zaitang 한국CDE학회 2023 Journal of computational design and engineering Vol.10 No.5

This study focuses on fractional-order derivatives for the unsteady flow of magnetohydrodynamic (MHD) methanol-iron oxide (CH3OH-Fe3O4) nanofluid over a permeable vertical plate. The utilization of fractional-order derivatives provides a mathematical representation of the flow model. The concluding model, consisting of a system of fractional-order transient partial differential equations, has been solved using the finite difference method, and graphical illustrations demonstrate the effects of key parameters on the flow field. Velocity and temperature profiles provide insights into nanofluid behavior. Additionally, essential quantities such as skin friction coefficient, Nusselt number, Bejan number, and entropy generation rate have been depicted graphically. Comparison with previous studies authenticates the accuracy of the anticipated model, contributing to new intuitions into MHD nanofluid flow over a permeable vertical plate. It is worth noting that the current model, incorporating fractional-order derivatives, contributes to understanding the physical characteristics of MHD CH3OH-Fe3O4 nanofluid flow over a permeable vertical plate, research that has not been extensively explored before.

Investigation on the Beneficiation of Fluorite-ore using a mixture of Oleic acid and Palmitic acid via Froth Flotation

Aiman Fatima,Syed Sheraz Daood,Shafia Inaam,Zaeem Bin Babar,Ashfaq Ahmed,Muhammad Zafar,Tahir Maqsood Qaisrani,Abdul Razzaq,Muhammad Usman Rashid,Sunhyung Kim,Young-Kwon Park 대한환경공학회 2023 Environmental Engineering Research Vol.28 No.3

Fluorite (fluorspar), an important industrial mineral ore, is one of the major raw materials for the production of hydrofluoric acid. Naturally occurring fluorite ore contains gangue minerals, primarily silica (SiO2) and calcite (CaCO3). The beneficiation of fluorspar is needed to mitigate the severity of operational issues. Several studies on fluorspar beneficiation using the froth floatation technique have been executed, but the process is restricted by the use of minerals acids to remove calcite. In this study, a novel scheme for fluorspar beneficiation was investigated for the floatation of fluorite and depression of calcite and other gangue minerals simultaneously without the use of mineral acids. Moreover, mixtures of saturated and unsaturated fatty acids (oleic acid and palmitic acid) were used instead of mineral acids. Various parameters were investigated, such as the weight percent of the feed-slurry, feed pH, the effect of reagents on the process selectivity, and the effect of feed boiling and dilution on the up-gradation of fluorspar. The adopted methodology with tested reagents resulted a 67 wt. % reduction of CO32− and 75 wt. % reduction of SiO2 in gangue material at a pH 10 for the feed slurry. Fluorspar purity increased from 65–75 wt. % to 95 wt. % after the boiling and dilution steps, respectively.