PURPOSE: Genetic testing in consanguineous families advances the general comprehension of pathophysiological pathways. However, short stature (SS) genetics remain unexplored in a defined consanguineous cohort. This study examines a unique pediatric cohort from Sulaimani, Iraq, aiming to inspire a genetic testing algorithm for similar populations. METHODS: Among 280 SS referrals from 2018-2020, 64 children met inclusion criteria (from consanguineous families; height ≤ -2.25 SD), 51 provided informed consent (30 females; 31 syndromic SS) and underwent investigation, primarily via exome sequencing. Prioritized variants were evaluated by the American College of Medical Genetics and Genomics standards. A comparative analysis was conducted by juxtaposing our findings against published gene panels for SS. RESULTS: A genetic cause of SS was elucidated in 31 of 51 (61%) participants. Pathogenic variants were found in genes involved in the GH-IGF-1 axis (GHR and SOX3), thyroid axis (TSHR), growth plate (CTSK, COL1A2, COL10A1, DYM, FN1, LTBP3, MMP13, NPR2, and SHOX), signal transduction (PTPN11), DNA/RNA replication (DNAJC21, GZF1, and LIG4), cytoskeletal structure (CCDC8, FLNA, and PCNT), transmembrane transport (SLC34A3 and SLC7A7), enzyme coding (CYP27B1, GALNS, and GNPTG), and ciliogenesis (CFAP410). Two additional participants had Silver-Russell syndrome and 1 had del22q.11.21. Syndromic SS was predictive in identifying a monogenic condition. Using a gene panel would yield positive results in only 10% to 33% of cases. CONCLUSION: A tailored testing strategy is essential to increase diagnostic yield in children with SS from consanguineous populations.
- Keywords
- Consanguinity, Genetic testing algorithm, Pediatric endocrinology, Short stature, Short stature genes,
- MeSH
- Algorithms MeSH
- Child MeSH
- Genetic Testing * methods MeSH
- Humans MeSH
- Adolescent MeSH
- Dwarfism * genetics epidemiology diagnosis MeSH
- Consanguinity MeSH
- Child, Preschool MeSH
- Pedigree MeSH
- Exome Sequencing MeSH
- Body Height genetics MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Adolescent MeSH
- Male MeSH
- Child, Preschool MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Geographicals
- Iraq epidemiology MeSH
Accurate analysis of sperm cell flagellar dynamics plays a crucial role in understanding sperm motility as flagella parameters determine cell behavior in the spatiotemporal domain. In this study, we introduce a novel approach by harnessing Genetic Algorithms (GA) to analyze sperm flagellar motion characteristics and compare the results with the traditional decomposition method based on Fourier analysis. Our analysis focuses on extracting key parameters of the equation approximating flagellar shape, including beating period time, bending amplitude, mean curvature, and wavelength. Additionally, we delve into the extraction of phase constants and initial swimming directions, vital for the comprehensive study of sperm cell pairs and bundling phenomena. One significant advantage of GA over Fourier analysis is its ability to integrate sperm cell motion data, enabling a more comprehensive analysis. In contrast, Fourier analysis neglects sperm cell motion by transitioning to a sperm-centered coordinate system (material system). In our comparative study, GA consistently outperform the Fourier analysis-based method, yielding a remarkable reduction in fitting error of up to 70% and on average by 45%. An in-depth exploration of the sperm cell motion becomes indispensable in a wide range of applications from complexities of reproductive biology and medicine, to developing soft flagellated microrobots.
- Keywords
- Biological motion, Flagellum deformation, Genetic algorithm, Motion analysis, Sperm cell dynamics,
- Publication type
- Journal Article MeSH
As the significance and complexity of solar panel performance, particularly at their maximum power point (MPP), continue to grow, there is a demand for improved monitoring systems. The presence of variable weather conditions in Maroua, including potential partial shadowing caused by cloud cover or urban buildings, poses challenges to the efficiency of solar systems. This study introduces a new approach to tracking the Global Maximum Power Point (GMPP) in photovoltaic systems within the context of solar research conducted in Cameroon. The system utilizes Genetic Algorithm (GA) and Backstepping Controller (BSC) methodologies. The Backstepping Controller (BSC) dynamically adjusts the duty cycle of the Single Ended Primary Inductor Converter (SEPIC) to align with the reference voltage of the Genetic Algorithm (GA) in Maroua's dynamic environment. This environment, characterized by intermittent sunlight and the impact of local factors and urban shadowing, affects the production of energy. The Genetic Algorithm is employed to enhance the efficiency of BSC gains in Maroua's solar environment. This optimization technique expedites the tracking process and minimizes oscillations in the GMPP. The adaptability of the learning algorithm to specific conditions improves energy generation, even in the challenging environment of Maroua. This study introduces a novel approach to enhance the efficiency of photovoltaic systems in Maroua, Cameroon, by tailoring them to the specific solar dynamics of the region. In terms of performance, our approach surpasses the INC-BSC, P&O-BSC, GA-BSC, and PSO-BSC methodologies. In practice, the stabilization period following shadowing typically requires fewer than three iterations. Additionally, our Maximum Power Point Tracking (MPPT) technology is based on the Global Maximum Power Point (GMPP) methodology, contrasting with alternative technologies that prioritize the Local Maximum Power Point (LMPP). This differentiation is particularly relevant in areas with partial shading, such as Maroua, where the use of LMPP-based technologies can result in power losses. The proposed method demonstrates significant performance by achieving a minimum 33% reduction in power losses.
- Keywords
- Backstepping controller, Genetic algorithm, Maximum power point tracking, Partial shading effects, Photovoltaic array,
- Publication type
- Journal Article MeSH
- Retracted Publication MeSH
In this paper, we analysed the steady state fluorescence spectra of cell suspensions containing healthy and carcinoma fibroblast mouse cells, using a genetic-algorithm-spectra-decomposition software (GASpeD). In contrast to other deconvolution algorithms, such as polynomial or linear unmixing software, GASpeD takes into account light scatter. In cell suspensions, light scatter plays an important role as it depends on the number of cells, their size, shape, and coagulation. The measured fluorescence spectra were normalized, smoothed and deconvoluted into four peaks and background. The wavelengths of intensities' maxima of lipopigments (LR), FAD, and free/bound NAD(P)H (AF/AB) of the deconvoluted spectra matched published data. In deconvoluted spectra at pH = 7, the fluorescence intensities of the AF/AB ratio in healthy cells was always higher in comparison to carcinoma cells. In addition, the AF/AB ratio in healthy and carcinoma cells were influenced differently by changes in pH. In mixtures of healthy and carcinoma cells, AF/AB decreases when more than 13% of carcinoma cells are present. Expensive instrumentation is not required, and the software is user friendly. Due to these attributes, we hope that this study will be a first step in the development of new cancer biosensors and treatments with the use of optical fibers.
- Keywords
- cancer biosensor, cell suspension auto-fluorescence, endogenous fluorophores, genetic algorithm, steady state fluorescence,
- MeSH
- Algorithms * MeSH
- Cell Culture Techniques MeSH
- Fluorescence MeSH
- Spectrometry, Fluorescence MeSH
- Carcinoma * MeSH
- Mice MeSH
- Software MeSH
- Animals MeSH
- Check Tag
- Mice MeSH
- Animals MeSH
- Publication type
- Journal Article MeSH
Modelling the influence of high-energy ionising radiation on the properties of materials with polymeric matrix using advanced artificial intelligence tools plays an important role in the research and development of new materials for various industrial applications. It also applies to effective modification of existing materials based on polymer matrices to achieve the desired properties. In the presented work, the effects of high-energy electron beam radiation with various doses on the dynamic mechanical properties of melamine resin, phenol-formaldehyde resin, and nitrile rubber blend have been studied over a wide temperature range. A new stiffness-temperature model based on Weibull statistics of the secondary bonds breaking during the relaxation transitions has been developed to quantitatively describe changes in the storage modulus with temperature and applied radiation dose until the onset of the temperature of the additional, thermally-induced polymerisation reactions. A global search real-coded genetic algorithm has been successfully applied to optimise the parameters of the developed model by minimising the sum-squared error. An excellent agreement between the modelled and experimental data has been found.
- Keywords
- Weibull distribution, dynamic mechanical analysis, electron-beam irradiation, genetic algorithm, resin-rubber blends,
- Publication type
- Journal Article MeSH
BACKGROUND: Despite the established value of genomic testing strategies, practice guidelines for their use do not exist in many indications. OBJECTIVES: We sought to validate a recently introduced scoring algorithm for dystonia, predicting the diagnostic utility of whole-exome sequencing (WES) based on individual phenotypic aspects (age-at-onset, body distribution, presenting comorbidity). METHODS: We prospectively enrolled a set of 209 dystonia-affected families and obtained summary scores (0-5 points) according to the algorithm. Singleton (N = 146), duo (N = 11), and trio (N = 52) WES data were generated to identify genetic diagnoses. RESULTS: Diagnostic yield was highest (51%) among individuals with a summary score of 5, corresponding to a manifestation of early-onset segmental or generalized dystonia with coexisting non-movement disorder-related neurological symptoms. Sensitivity and specificity at the previously suggested threshold for implementation of WES (3 points) was 96% and 52%, with area under the curve of 0.81. CONCLUSIONS: The algorithm is a useful predictive tool and could be integrated into dystonia routine diagnostic protocols. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson Movement Disorder Society.
- Keywords
- diagnostic yield, dystonia, exome sequencing, prediction, rare disease, scoring algorithm,
- MeSH
- Algorithms MeSH
- Dystonic Disorders * genetics MeSH
- Dystonia * diagnosis genetics MeSH
- Genetic Testing MeSH
- Humans MeSH
- Parkinson Disease * MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
In this paper, we introduce an improved water strider algorithm designed to solve the inverse form of the Burgers-Huxley equation, a nonlinear partial differential equation. Additionally, we propose a physics-informed neural network to address the same inverse problem. To demonstrate the effectiveness of the new algorithm and conduct a comparative analysis, we compare the results obtained using the improved water strider algorithm against those derived from the original water strider algorithm, a genetic algorithm, and a physics-informed neural network with three hidden layers. Solving the inverse form of nonlinear partial differential equations is crucial in many scientific and engineering applications, as it allows us to infer unknown parameters or initial conditions from observed data. This process is often challenging due to the complexity and nonlinearity of the equations involved. Meta-heuristic algorithms and neural networks have proven to be effective tools in addressing these challenges. The numerical results affirm the efficiency of our proposed method in solving the inverse form of the Burgers-Huxley equation. The best results were obtained using the improved water strider algorithm and the physics-informed neural network with 10,000 iterations. With this iteration count, the mean absolute error of these algorithms is O ( 10 - 4 ) . Additionally, the improved water strider algorithm is nearly four times faster than the physics-informed neural network. All algorithms were executed on a computing system equipped with an Intel(R) Core(TM) i7-7500U processor and 12.00 GB of RAM, and were implemented in MATLAB.
- Keywords
- Artificial intelligence, Burgers-Huxley equation, Genetic algorithm, Physics-informed neural networks, Water strider algorithm,
- Publication type
- Journal Article MeSH
Edge computing is a novel technology, which is closely related to the concept of Internet of Things. This technology brings computing resources closer to the location where they are consumed by end-users-to the edge of the cloud. In this way, response time is shortened and lower network bandwidth is utilized. Workflow scheduling must be addressed to accomplish these goals. In this paper, we propose an enhanced firefly algorithm adapted for tackling workflow scheduling challenges in a cloud-edge environment. Our proposed approach overcomes observed deficiencies of original firefly metaheuristics by incorporating genetic operators and quasi-reflection-based learning procedure. First, we have validated the proposed improved algorithm on 10 modern standard benchmark instances and compared its performance with original and other improved state-of-the-art metaheuristics. Secondly, we have performed simulations for a workflow scheduling problem with two objectives-cost and makespan. We performed comparative analysis with other state-of-the-art approaches that were tested under the same experimental conditions. Algorithm proposed in this paper exhibits significant enhancements over the original firefly algorithm and other outstanding metaheuristics in terms of convergence speed and results' quality. Based on the output of conducted simulations, the proposed improved firefly algorithm obtains prominent results and managed to establish improvement in solving workflow scheduling in cloud-edge by reducing makespan and cost compared to other approaches.
- Keywords
- Edge computing, Firefly algorithm, Genetic operator, Quasi-reflection-based learning, Swarm intelligence, Workflow scheduling,
- Publication type
- Journal Article MeSH
Objective.The current practices of designing neural networks rely heavily on subjective judgment and heuristic steps, often dictated by the level of expertise possessed by architecture designers. To alleviate these challenges and streamline the design process, we propose an automatic method, a novel approach to enhance the optimization of neural network architectures for processing intracranial electroencephalogram (iEEG) data.Approach.We present a genetic algorithm, which optimizes neural network architecture and signal pre-processing parameters for iEEG classification.Main results.Our method improved the macroF1 score of the state-of-the-art model in two independent datasets, from St. Anne's University Hospital (Brno, Czech Republic) and Mayo Clinic (Rochester, MN, USA), from 0.9076 to 0.9673 and from 0.9222 to 0.9400 respectively.Significance.By incorporating principles of evolutionary optimization, our approach reduces the reliance on human intuition and empirical guesswork in architecture design, thus promoting more efficient and effective neural network models. The proposed method achieved significantly improved results when compared to the state-of-the-art benchmark model (McNemar's test,p≪ 0.01). The results indicate that neural network architectures designed through machine-based optimization outperform those crafted using the subjective heuristic approach of a human expert. Furthermore, we show that well-designed data preprocessing significantly affects the models' performance.
- Keywords
- deep learning, genetic algorithms, intracranial EEG, neural network, optimization,
- MeSH
- Electroencephalography methods MeSH
- Electrocorticography * MeSH
- Humans MeSH
- Neural Networks, Computer * MeSH
- Signal Processing, Computer-Assisted MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
This research introduces the Multi-Objective Liver Cancer Algorithm (MOLCA), a novel approach inspired by the growth and proliferation patterns of liver tumors. MOLCA emulates the evolutionary tendencies of liver tumors, leveraging their expansion dynamics as a model for solving multi-objective optimization problems in engineering design. The algorithm uniquely combines genetic operators with the Random Opposition-Based Learning (ROBL) strategy, optimizing both local and global search capabilities. Further enhancement is achieved through the integration of elitist non-dominated sorting (NDS), information feedback mechanism (IFM) and Crowding Distance (CD) selection method, which collectively aim to efficiently identify the Pareto optimal front. The performance of MOLCA is rigorously assessed using a comprehensive set of standard multi-objective test benchmarks, including ZDT, DTLZ and various Constraint (CONSTR, TNK, SRN, BNH, OSY and KITA) and real-world engineering design problems like Brushless DC wheel motor, Safety isolating transformer, Helical spring, Two-bar truss and Welded beam. Its efficacy is benchmarked against prominent algorithms such as the non-dominated sorting grey wolf optimizer (NSGWO), multiobjective multi-verse optimization (MOMVO), non-dominated sorting genetic algorithm (NSGA-II), decomposition-based multiobjective evolutionary algorithm (MOEA/D) and multiobjective marine predator algorithm (MOMPA). Quantitative analysis is conducted using GD, IGD, SP, SD, HV and RT metrics to represent convergence and distribution, while qualitative aspects are presented through graphical representations of the Pareto fronts. The MOLCA source code is available at: https://github.com/kanak02/MOLCA.
- Keywords
- Engineering design optimization, Liver cancer algorithm, MOLCA, Multi objective optimization, Non-dominated solution, Pareto front, Pareto solution,
- Publication type
- Journal Article MeSH