Search results for: B. M. Alshammari

Authors: Hamoud Alshammari, Adnan Almezani, Hamdan Alshammari, Faris Alharbi

Abstract:

In this study we have examined of antimicrobial activity for unripe Juglan Regia phenolic extracts against a wide range of pathogenic microorganisms. Walnut (Juglans regia L.) is a member of Juglandaceae family used as a remedy in folk medicine. Leaves, barks, fruits and husk (peel) reported to harbor distinctive medical effect. In our study, we examined the anti-microbial effect against a set of gram positive and negative bacteria and even we have tested them against eukaryotic candida strains in a concentration gradual manner. Ethyl acetate extract of J. regia had the best antibacterial activity when compared with ciprofloxacin. The Minimum inhibition concentration for S. aureus, P. aerogenosa and S. epidermidis MIC was 0.85 mg/mL.

Keywords: antimicrobial, J. regia, S. aureus, phytochemistry

Procedia PDF Downloads 164

Authors: Talal Alshammari, Nasser Alshammari, Mohamed Sedky, Chris Howard

Abstract:

With the widespread adoption of the Internet-connected devices, and with the prevalence of the Internet of Things (IoT) applications, there is an increased interest in machine learning techniques that can provide useful and interesting services in the smart home domain. The areas that machine learning techniques can help advance are varied and ever-evolving. Classifying smart home inhabitants’ Activities of Daily Living (ADLs), is one prominent example. The ability of machine learning technique to find meaningful spatio-temporal relations of high-dimensional data is an important requirement as well. This paper presents a comparative evaluation of state-of-the-art machine learning techniques to classify ADLs in the smart home domain. Forty-two synthetic datasets and two real-world datasets with multiple inhabitants are used to evaluate and compare the performance of the identified machine learning techniques. Our results show significant performance differences between the evaluated techniques. Such as AdaBoost, Cortical Learning Algorithm (CLA), Decision Trees, Hidden Markov Model (HMM), Multi-layer Perceptron (MLP), Structured Perceptron and Support Vector Machines (SVM). Overall, neural network based techniques have shown superiority over the other tested techniques.

Keywords: activities of daily living, classification, internet of things, machine learning, prediction, smart home

Procedia PDF Downloads 305

Authors: Ahmad Alshammari, Abdulaziz Bagabas, Muhamad Assulami

Abstract:

Rhodamine B (RB) is a toxic dye used extensively in textile industry, which must be remediated before its drainage to the environment. In the present study, supported gold nanoparticles on commercially available titania and zincite were successfully prepared and then their activity on the photodegradation of RB under UV-A light irradiation were evaluated. The synthesized photocatalysts were characterized by ICP, BET, XRD, and TEM. Kinetic results showed that Au/TiO2 was an inferior photocatalyst to Au/ZnO. This observation could be attributed to the strong reflection of UV irradiation by gold nanoparticles over TiO2 support.

Keywords: supported AuNPs, semiconductor photocatalyst, photodegradation, rhodamine B

Procedia PDF Downloads 410

Authors: Faisal AlShammari, Abdulmajid Addali

Abstract:

Monitoring the conditions of rotating machinery as bearing is important in order to improve its stability of works. Acoustic emission (AE) and vibration analysis are some of the most accomplished techniques used for this purpose. Acoustic emission has the ability to detect the initial phase of component degradation. Moreover, it has been observed that the success of vibration analysis does not take place below 100 rpm rotational speed. This because the energy generated below 100 rpm rotational speed is not detectable using conventional vibration. From this pint, this paper has presented a focused review of using acoustic emission techniques for monitoring bearings condition.

Keywords: condition monitoring, stress wave analysis, low-speed bearings, bearing defect diagnosis

Procedia PDF Downloads 277

Authors: Mohamed Arbi Khlifi, Badr M. Alshammari

Abstract:

This paper discusses the general methods to saturation in the steady-state, two axis (d & q) frame models of synchronous machines. In particular, the important role of the magnetic coupling between the d-q axes (cross-magnetizing phenomenon), is demonstrated. For that purpose, distinct methods of saturation modeling of dumper synchronous machine with cross-saturation are identified, and detailed models synthesis in d-q axes. A number of models are given in the final developed form. The procedure and the novel models are verified by a critical application to prove the validity of the method and the equivalence between all developed models is reported. Advantages of some of the models over the existing ones and their applicability are discussed.

Keywords: cross-magnetizing, models synthesis, synchronous machine, saturated modeling, state-space vectors

Procedia PDF Downloads 420

Authors: Bibi Alajmi, Israa Alshammari

Abstract:

This study investigates diversity strands covered in courses offered by library and information sciences (LIS) graduate programs. It aims to identify the extent to which these programs prepare students to work in diverse communities. Information was collected from 17 ALA-accredited MLIS programs. Diversity-related topics were identified and categorized. The methodology consisted of content analysis of course syllabi. The findings show that coverage of diversity-related content in LIS graduate curricula is increasing at a slow but significant rate, and is often a low priority. Apart from LIS graduate courses for future librarians and information professionals in public libraries, school libraries, and museums providing services to young adults and children, there is not enough interest in the provision of services to diverse communities.

Keywords: diversity, multiculturalism, inclusion, equality, gender

Procedia PDF Downloads 107

Authors: Badr M. Alshammari, T. Guesmi

Abstract:

This study presents a modified version of the artificial bee colony (ABC) algorithm by including a local search technique for solving the non-convex economic power dispatch problem. The local search step is incorporated at the end of each iteration. Total system losses, valve-point loading effects and prohibited operating zones have been incorporated in the problem formulation. Thus, the problem becomes highly nonlinear and with discontinuous objective function. The proposed technique is validated using an IEEE benchmark system with ten thermal units. Simulation results demonstrate that the proposed optimization algorithm has better convergence characteristics in comparison with the original ABC algorithm.

Keywords: economic power dispatch, artificial bee colony, valve-point loading effects, prohibited operating zones

Procedia PDF Downloads 218

Authors: Khaled Alshammari

Abstract:

Ciprofloxacin (CIP) is a common antibiotic drug used as a strudy electron donor that interacts with dynamic π -acceptors such as 2,3-dinitrosalsylic acid (HDNS) and Tetracyanoethylene (TCNE) for synthesizing a new model of charge transfer (CT) complexes. The synthesized complexes were identified using diverse analytical methods such as UV–vis spectra, photometric titration measurements, FT-IR, HNMR Spectroscopy, and thermogravimetric analysis techniques (TGA/DTA). The stoichiometries for all the formed complexes were found to be a 1:1 M ratio between the reactants. The characteristic spectroscopic properties such as transition dipole moment (µ), oscillator strength (f), formation constant (KCT), ionization potential (ID), standard free energy (∆G), and energy of interaction (ECT) for the CT-complexes were collected. The developed CT complexes were tested for their toxicity on main organs, antimicrobial activity, antioxidant activity, and biofilm formation.

Keywords: biological, biofilm, toxicity, thermal analysis, charge transfer, spectroscopy

Procedia PDF Downloads 11

Authors: Badr M. Alshammari, Mohamed A. Khlifi

Abstract:

This paper presents the analysis of DC/DC converter including a comparative study of control methods to extract the maximum power and to track the maximum power point (MPP) from photovoltaic (PV) systems under changeable environmental conditions. This paper proposes two methods of maximum power point tracking algorithm for photovoltaic systems, based on the first hand on P&O control and the other hand on the first order IC. The MPPT system ensures that solar cells can deliver the maximum power possible to the load. Different algorithms are used to design it. Here we compare them and simulate the photovoltaic system with two algorithms. The algorithms are used to control the duty cycle of a DC-DC converter in order to boost the output voltage of the PV generator and guarantee the operation of the solar panels in the Maximum Power Point (MPP). Simulation and experimental results show that the proposed algorithms can effectively improve the efficiency of a photovoltaic array output.

Keywords: solar cell, DC/DC boost converter, MPPT, photovoltaic system

Procedia PDF Downloads 156

Authors: Faisal Alshammari, Abdulmajid Addali, Mosab Alrashed, Taihiret Alhashan

Abstract:

The application of acoustic emission techniques is gaining popularity, as it can monitor the condition of gears and bearings and detect early symptoms of a defect in the form of pitting, wear, and flaking of surfaces. Early detection of these defects is essential as it helps to avoid major failures and the associated catastrophic consequences. Signal processing techniques are required for early defect detection – in this article, a time domain technique called the Energy Index (EI) is used. This article presents an investigation into the Energy Index’s effectiveness to detect early-stage defect initiation and deterioration, and compares it with the common r.m.s. index, Kurtosis, and the Kolmogorov-Smirnov statistical test. It is concluded that EI is a more effective technique for monitoring defect initiation and development than other statistical parameters.

Keywords: acoustic emission, signal processing, kurtosis, Kolmogorov-Smirnov test

Procedia PDF Downloads 314

Authors: Khaled Alshammari

Abstract:

A facile approach to synthesizing highly active and stable Au/NiO catalysts for the hydrogenation of nitro-aromatics is reported. Preformed gold nanoparticles have been immobilized onto NiO using a colloidal method. In this article, the reduction of 4-nitrophenol with NaBH4 has been used as a model reaction to investigate the catalytic activity of synthesized Au/NiO catalysts. In addition, we report a systematic study of the reduction kinetics and the influence of specific reaction parameters such as (i) temperature, (ii) stirring rate, (iii) sodium borohydride concentration and (iv) substrate/metal molar ratio. The reaction has been performed at a substrate/metal molar ratio of 7.4, a ratio significantly higher than previously reported. The reusability of the catalyst has been examined, with little to no decrease in activity observed over 5 catalytic cycles. Systematic variation of Au loading reveals the successful synthesis of low-cost and efficient Au/NiO catalysts at very low Au content and using high substrate/metal molar ratios.

Keywords: nonochemistry, catalyst, nanoparticles supported, characterization of materials, colloidal nanoparticles

Procedia PDF Downloads 13

Authors: Badr M. Alshammari, T. Guesmi

Abstract:

In this paper, the concept of a non-dominated sorting multi-objective particle swarm optimization with local search (NSPSO-LS) is presented for the optimal design of multimachine power system stabilizers (PSSs). The controller design is formulated as an optimization problem in order to shift the system electromechanical modes in a pre-specified region in the s-plan. A composite set of objective functions comprising the damping factor and the damping ratio of the undamped and lightly damped electromechanical modes is considered. The performance of the proposed optimization algorithm is verified for the 3-machine 9-bus system. Simulation results based on eigenvalue analysis and nonlinear time-domain simulation show the potential and superiority of the NSPSO-LS algorithm in tuning PSSs over a wide range of loading conditions and large disturbance compared to the classic PSO technique and genetic algorithms.

Keywords: multi-objective optimization, particle swarm optimization, power system stabilizer, low frequency oscillations

Procedia PDF Downloads 398

Authors: Ahmad Alshammari

Abstract:

This study focused on exploring the students’ views about the science education in intermediate stage in State of Kuwait. This study used Social-Culture Theory (SCT) as a theoretical framework to understand the science curriculum reform process through the socio-cultural context and to discuss and explain the study findings. This study used a multi-method design, with both quantitative and qualitative methods to collect the data: students’ questionnaires and interviews. The study sample was selected randomly. First, the questionnaire was conducted with 647 students. Then 30 students (5 in each of 6 focus groups) were chosen to conduct the in-depth interviews. The findings of this study indicated the generally negative views of most of the students about the new science curriculum. The findings showed that most of the students have a negative attitude toward science, they have difficulty understanding most of the lessons, and they do not enjoy studying the science subject. This study recommends reviewing the new science curriculum (now currently in use) and taking into account the perspectives of the students about this curriculum. Developing and adapting the new science curriculum took place without taking into consideration the socio-culture and Islamic religion of Kuwaiti students. The MoE should deal with the relationship between science and culture and between science and religion, integrating more relevant science into the curriculum.

Keywords: science education, students views, science curriculum, curriculum development

Procedia PDF Downloads 263

Authors: Badr M. Alshammari, A. Rabeh, A. K. Mohamed

Abstract:

This paper presents the modeling and the control of a grid-connected photovoltaic system (PVS). Firstly, the MPPT control of the PVS and its associated DC/DC converter has been analyzed in order to extract the maximum of available power. Secondly, the control system of the grid side converter (GSC) which is a three-phase voltage source inverter (VSI) has been presented. A special attention has been paid to the control algorithms of the GSC converter during grid voltages imbalances. Especially, three different control objectives are to achieve; the mitigation of the grid imbalance adverse effects, at the point of common coupling (PCC), on the injected currents, the elimination of double frequency oscillations in active power flow, and the elimination of double frequency oscillations in reactive power flow. Simulation results of two control strategies have been performed via MATLAB software in order to demonstrate the particularities of each control strategy according to power quality standards.

Keywords: renewable energies, photovoltaic systems, dc link, voltage source inverter, space vector SVPWM, unbalanced voltage dips, symmetrical components

Procedia PDF Downloads 343

Authors: Badr M. Alshammari, T. Guesmi

Abstract:

In recent years, the combined economic and emission power dispatch is one of the main problems of electrical power system. It aims to schedule the power generation of generators in order to minimize cost production and emission of harmful gases caused by fossil-fueled thermal units such as CO, CO₂, NO_x, and SO₂. To solve this complicated multi-objective problem, an improved version of the particle swarm optimization technique that includes non-dominated sorting concept has been proposed. Valve point loading effects and system losses have been considered. The three-unit and ten-unit benchmark systems have been used to show the effectiveness of the suggested optimization technique for solving this kind of nonconvex problem. The simulation results have been compared with those obtained using genetic algorithm based method. Comparison results show that the proposed approach can provide a higher quality solution with better performance.

Keywords: power dispatch, valve point loading effects, multiobjective optimization, Pareto solutions

Procedia PDF Downloads 245

Authors: B. M. Alshammari, M. A. El-Kady

Abstract:

This paper presents a unified framework for assessment of reserve-based reliability levels in electric power systems. The unified approach is based on reserve-based analysis and assessment of the relationship between available generation capacities and required demand levels. The developed approach takes into account the load variations as well as contingencies which occur randomly causing some generation and/or transmission capacities to be lost (become unavailable). The calculated reserve based indices, which are important to assess the reserve capabilities of the power system for various operating scenarios are therefore probabilistic in nature. They reflect the fact that neither the load levels nor the generation or transmission capacities are known with absolute certainty. They are rather subjects to random variations and consequently. The calculated reserve-based reliability indices are all subjects to random variations where only expected values of these indices can be evaluated. This paper presents a unified approach to reserve-based reliability assessment of power systems using various reserve assessment criteria. Practical applications are also presented for demonstration purposes to the Saudi electricity power grid.

Keywords: assessment, power system, reserve, reliability

Procedia PDF Downloads 581

Authors: Alhulw H. Alshammari, Ahmed Iraqi, S. A. Saad, T. A. Taha

Abstract:

In this work, we present for the first time the study of Raman spectra and dielectric relaxation of polyester polymer-CoFe₂O₄ (5.0, 10.0, 15.0, and 20.0 wt%) nanocomposites. Raman spectroscopy was applied as a sensitive structural identification technique to characterize the polyester-CoFe₂O₄ nanocomposites. The images of AFM confirmed the uniform distribution of CoFe₂O₄ inside the polymer matrix. Dielectric relaxation was employed as an important analytical technique to obtain information about the ability of the polymer nanocomposites to store and filter electrical signals. The dielectric relaxation analyses were carried out on the polyester-CoFe₂O₄ nanocomposites at different temperatures. An increase in dielectric constant ε₁ was observed for all samples with increasing temperatures due to the alignment of the electric dipoles with the applied electric field. In contrast, ε₁ decreased with increasing frequency. This is attributed to the difficulty for the electric dipoles to follow the electric field. The α relaxation peak that appeared at a high frequency shifted to higher frequencies when increasing the temperature. The activation energies for Maxwell-Wagner Sillar (MWS) changed from 0.84 to 1.01 eV, while the activation energies for α relaxations were 0.54 – 0.94 eV. The conduction mechanism for the polyester- CoFe₂O₄ nanocomposites followed the correlated barrier hopping (CBH) model.

Keywords: AC conductivity, activation energy, dielectric permittivity, polyester nanocomposites

Procedia PDF Downloads 75

Authors: Shahd Alshammari

Abstract:

This paper considers one of Margaret Atwood’s short stories ‘Lusus Naturae'. Through a critical lens that makes use of Julia Kristeva’s work on Powers of Horror and abjection, this paper suggests that the monstrous girl is the disabled woman, the abject in society. The monster is used as a metaphor for the unknown, the misunderstood, and the ‘different’ woman. Culturally Relevant Teaching (CRT) is a pedagogy that calls for making course material accessible and relevant to students. Through the study of literary texts, we are able to help create agency inside and outside the classroom. Stories are a necessary part of establishing connections across borders and boundaries. Stories are meant to raise awareness both inside and outside the classroom. The discussion is equally important, and the text is meant to facilitate relevant questions that the students need to consider when it comes to identity. Questions to consider are: what does it mean to be a ‘girl’ today, and what implications and consequences are at hand when you fail to perform this gendered identity? Gender is sometimes a fatal bond in the Middle East, and even more so, is the disability. In the case of our unnamed protagonist, she undergoes a process of un-becoming, a non-linear process of growing up. In a sense, it is a counter-Bildungsroman. The reading of this text emphasizes that a non-linear narrative is sometimes necessary for the female protagonist’s self-awareness and development. Discussion in class facilitates this sense of agency and questioning of gender and disability.

Keywords: disability, gender, literature, pedagogy

Procedia PDF Downloads 614

Authors: Hameed Alshammari

Abstract:

The decarbonisation of the energy sector beyond the 21ˢᵗ century is akin to establishing morally responsible mechanisms that can propagate sustainable livelihoods (Denina et al., 2021). It implies that Kuwait undertakes a re-evaluation of energy generation gaps so as to tap the potential to reduce overreliance on fossil fuel (Si et al., 2020) and align with global views on sustainable energy generation and consumption.(Herrero, Pineda, Villar, & Zambrano, 2020). Without the economic pressure to switch to alternative sources of energy, Kuwait requires a multi-dimensional analysis the energy policies andsources of energy other than fossil fuels (Alsaad, 2021).Currently, Kuwait has an energy system that is highly skewed towards fossil fuels (Alsaad, 2021); hence, the reliance on burning fossil fuels forms part of the core elements of the general inefficient energy systems that have negative consequences to global environmental and economic systems (Kang et al., 2020). This paper undertakes a detailed literature review on factors needed for the development of a framework for the multi-dimensional energy resource analysis in Kuwait. The framework aims aligning the current energy policies in Kuwait with the global decarbonisation drive, to promote sustainable energy strategies.

Keywords: decarbonisation, energy, fossil fuels, multi-dimensional analysis, sustainability

Procedia PDF Downloads 53

Authors: Nasiruddin Khan, Hanan A. Alfawaz, Sobhy M. Yakout, Malak N. K. Khattak, Amani A. Alsaikhan, Areej A. Almousa, Taghreed A. Alsuwailem, Taghreed M. Almjlad, Nada A. Alamri, Sahar G. Alshammari, Nasser M. Al-Daghri

Abstract:

The consumption of coffee as a beverage is increasing in every part of the world. However, its excessive intake might exert negative effects. Our objective was to demonstrate the prevalence and awareness of coffee consumption among Saudi students and its determinants among this section of the population. Nine hundred thirty female students participated from various departments of King Saud University in a survey-based study using a face-to-face interview. The study demonstrates a high prevalence of coffee consumption (88.2%) among students in the Riyadh region. Certain situations such as exams were associated with increased frequency of coffee intake combined with unhealthy dietary habits of adding other ingredients such as sugar and spices in amount more than needed. Unmarried and fresh year students with high academic grades were associated with higher coffee consumption. The main determinants of coffee consumption among university students were high BMI and increased family income level. Continued awareness and basic knowledge, along with understanding the importance of reading food labels, should be provided to young generations. The university students must be cautioned to limit excessive coffee consumption and maintain healthy dietary habits.

Keywords: academic performance, BMI, coffee, health awareness

Procedia PDF Downloads 157

Authors: Faisal AlShammari, Abdulmajid Addali, Mosab Alrashed

Abstract:

It is widely acknowledged that bearing failures are the primary reason for breakdowns in rotating machinery. These failures are extremely costly, particularly in terms of lost production. Roller bearings are widely used in industrial machinery and need to be maintained in good condition to ensure the continuing efficiency, effectiveness, and profitability of the production process. The research presented here is an investigation of the use of acoustic emission (AE) to monitor bearing conditions at low speeds. Many machines, particularly large, expensive machines operate at speeds below 100 rpm, and such machines are important to the industry. However, the overwhelming proportion of studies have investigated the use of AE techniques for condition monitoring of higher-speed machines (typically several hundred rpm, or even higher). Few researchers have investigated the application of these techniques to low-speed machines ( < 100 rpm). This paper addressed this omission and has established which, of the available, AE techniques are suitable for the detection of incipient faults and measurement of fault growth in low-speed bearings. The first objective of this paper program was to assess the applicability of AE techniques to monitor low-speed bearings. It was found that the measured statistical parameters successfully monitored bearing conditions at low speeds (10-100 rpm). The second objective was to identify which commonly used statistical parameters derived from the AE signal (RMS, kurtosis, amplitude and counts) could identify the onset of a fault in the out race. It was found that these parameters effectually identify the presence of a small fault seeded into the outer races. Also, it is concluded that rotational speed has a strong influence on the measured AE parameters but that they are entirely independent of the load under such load and speed conditions.

Keywords: acoustic emission, condition monitoring, NDT, statistical analysis

Procedia PDF Downloads 217

Authors: Khalid Huwaydi Alshammari

Abstract:

The paper examined the extent to which it was necessary for the Saudi Arabian Monetary Agency (SAMA), as a central bank, to update the Banking Control Law 1966 (BCL) in order to gain full independence, while ensuring that SAMA would have enough flexibility to develop the banking industry yet make sound decisions with regard to the issuance of new regulations related to banking supervision.Using a comparative study approach, the paper looked to find the best practices around these issues. The Bank of England, which was recently granted full independence, presented a good opportunity for a case study. The perspectives of the World Bank, the International Monetary Fund and commercial banks in Saudi Arabia are examined, including an analysis of their recommendations regarding SAMA regulations on banking supervision. This paper found several issues are important for SAMA as the central bank in a country which is a member of the G20, and which has recently faced unstable oil prices. The paper also discusses conflicts of interest which arose when the Saudi government became a shareholder in commercial banks while simultaneously regulating SAMA through the Ministry of Finance, resulting in a monopoly which disabled free competition in the banking market. The paper recommends further steps for SAMA to develop the banking industry, which is an important arm of Saudi’s economy, and examines the challenges SAMA faces in updating regulations such as the BCL under Sharia law. The author also suggests practical solutions to the difficulties. The paper found these difficulties could be avoiding them if SAMA focuses on Islamic banking product, and fixed the lacks of regulations of the related laws.

Keywords: Saudi Arabian monetary agency, comparative study, banking control law 1966, the bank of England

Procedia PDF Downloads 351

Authors: Kaznah Alshammari, Thomas Beach, Yacine Rezgui

Abstract:

Technological advances in the construction sector are helping to make smart cities a reality by means of cyber-physical systems (CPS). CPS integrate information and the physical world through the use of information communication technologies (ICT). An increasingly common goal in the built environment is to integrate building information models (BIM) with the Internet of Things (IoT) and sensor technologies using CPS. Future advances could see the adoption of digital twins, creating new opportunities for CPS using monitoring, simulation, and optimisation technologies. However, researchers often fail to fully consider the security implications. To date, it is not widely possible to assimilate BIM data and cybersecurity concepts, and, therefore, security has thus far been overlooked. This paper reviews the empirical literature concerning IoT applications in the built environment and discusses real-world applications of the IoT intended to enhance construction practices, people’s lives and bolster cybersecurity. Specifically, this research addresses two research questions: (a) how suitable are the current IoT and CPS security stacks to address the cybersecurity threats facing digital twins in the context of smart buildings and districts? and (b) what are the current obstacles to tackling cybersecurity threats to the built environment CPS? To answer these questions, this paper reviews the current state-of-the-art research concerning digital twins in the built environment, the IoT, BIM, urban cities, and cybersecurity. The results of these findings of this study confirmed the importance of using digital twins in both IoT and BIM. Also, eight reference zones across Europe have gained special recognition for their contributions to the advancement of IoT science. Therefore, this paper evaluates the use of digital twins in CPS to arrive at recommendations for expanding BIM specifications to facilitate IoT compliance, bolster cybersecurity and integrate digital twin and city standards in the smart cities of the future.

Keywords: BIM, cybersecurity, digital twins, IoT, urban cities

Procedia PDF Downloads 130

Authors: Rita Alfattal, Maryam Alfarhan, Adeeb M. Algaith, Buthaina Albash, Reem M. Elshafie, Asma Alshammari, Ahmad Alahmad, Fatima Dashti, Rasha Alsafi, Hind Alsharhan

Abstract:

Defects of respiratory chain complex III (CIII) result in characteristic but rare mitochondrial disorders associated with distinct neuroradiological findings. The underlying molecular defects affecting mitochondrial CIII assembly factors are few and yet to be identified. LYRM7 assembly factor is required for proper CIII assembly where it acts as a chaperone for the Rieske iron‐sulfur (UQCRFS1) protein in the mitochondrial matrix and stabilizing it. We present here the seventeenth individual with LYRM7-associated mitochondrial leukoencephalopathy harboring a previously reported rare pathogenic homozygous LYRM 7 variant, c.2T>C, (p.Met1?). Like previously reported individuals, our 4-year-old male proband presented with recurrent metabolic and lactic acidosis, encephalopathy, and myopathy. Further, he has additional, previously unreported features, including an acute stroke like episode with bilateral central blindness and optic neuropathy, recurrent hyperglycemia and hypertension associated with metabolic crisis. However, he has no signs of psychomotor regression. He has been stable clinically with residual left-sided reduced visual acuity and amblyopia, and no more metabolic crises for 2-year-period while on the mitochondrial cocktail. Although the reported brain MRI findings in other affected individuals are homogenous, it is slightly different in our index, revealing evidence of bilateral almost symmetric multifocal periventricular T2 hyperintensities with hyperintensities of the optic nerves, optic chiasm, and corona radiata but with no cavitation or cystic changes. This report describes new clinical and radiological findings of LYRM7-associated disease. The report also summarizes the clinical and molecular data of previously reported individuals describing the full phenotypic spectrum.

Keywords: LYRM7 gene defect, mitochondrial disease, , lactic acidosis, , genetic disorder

Procedia PDF Downloads 38