Search results for: genetic programming
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 2462

Search results for: genetic programming

572 Static Application Security Testing Approach for Non-Standard Smart Contracts

Authors: Antonio Horta, Renato Marinho, Raimir Holanda

Abstract:

Considered as an evolution of the Blockchain, the Ethereum platform, besides allowing transactions of its cryptocurrency named Ether, it allows the programming of decentralised applications (DApps) and smart contracts. However, this functionality into blockchains has raised other types of threats, and the exploitation of smart contracts vulnerabilities has taken companies to experience big losses. This research intends to figure out the number of contracts that are under risk of being drained. Through a deep investigation, more than two hundred thousand smart contracts currently available in the Ethereum platform were scanned and estimated how much money is at risk. The experiment was based in a query run on Google Big Query in July 2022 and returned 50,707,133 contracts published on the Ethereum platform. After applying the filtering criteria, the experimentgot 430,584 smart contracts to download and analyse. The filtering criteria consisted of filtering out: ERC20 and ERC721 contracts, contracts without transactions, and contracts without balance. From this amount of 430,584 smart contracts selected, only 268,103 had source codes published on Etherscan, however, we discovered, using a hashing process, that there were contracts duplication. Removing the duplicated contracts, the process ended up with 20,417 source codes, which were analysed using the open source SAST tool smartbugswith oyente and securify algorithms. In the end, there was nearly $100,000 at risk of being drained from the potentially vulnerable smart contracts. It is important to note that the tools used in this study may generate false positives, which may interfere with the number of vulnerable contracts. To address this point, our next step in this research is to develop an application to test the contract in a parallel environment to verify the vulnerability. Finally, this study aims to alert users and companies about the risk on not properly creating and analysing their smart contracts before publishing them into the platform. As any other application, smart contracts are at risk of having vulnerabilities which, in this case, may result in direct financial losses.

Keywords: blockchain, reentrancy, static application security testing, smart contracts

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571 Characteristic and Prevalence of Cleft Lip and Palate Patient in Bandung Cleft Lip and Palate Center: A Descriptive Study

Authors: Kusmayadi Ita Nursita, Sundoro Ali

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Cleft lip and palate are one of the most common congenital abnormalities in the face. It could happen to anyone, but mostly affect Asian population including Indonesia. Factors that influence the occurrence of cleft lip and palate vary from genetic to environmental factors. Children with cleft lip and palate will often have various problems such as airway disorders, eating disorders, speech and language developmental disorders, hearing disorders and psycho-social disorders, one of which is caused by appearance disorders. During his life, the child will experience multidisciplinary surgery and non-surgical treatment and can be accompanied by a psychological and financial burden on himself and his family. In Indonesia, there are no detailed scientific data on the prevalence and characteristic of cleft lip and palate patients. It was mainly caused by the absence of a national level organization, differences in geographical location, and the absence of national guidelines. This study aimed to describe the characteristic and prevalence of cleft lip and palate patients in Bandung Cleft Lip and Palate Center from 1 January 2016 to 31 December 2017. A total of 560 patients were included in the study. The highest percentage of cases are left unilateral cleft lip and palate with higher number of female patient and labioplasty as the most often surgical procedure to be conducted in Bandung Cleft Lip and Palate Center. In order to improve quality of life in patients with cleft lip and palate, early recognition and early treatment based on actual comprehensive data should be conducted. The data from Bandung Cleft Lip and Palate Center as one of the largest center of cleft lip and palate in West Java Indonesia hopefully could provide a big step of further comprehensive data collection in Indonesia and for the better overall management of cleft lip and palate in the future.

Keywords: cleft lip, cleft palate, characteristic, prevalence

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570 High Prevalence of Multi-drug Resistant Diarrheagenic Escherichia coli among Hospitalised Diarrheal Patients in Kolkata, India

Authors: Debjani Ghosh, Goutam Chowdhury, Prosenjit Samanta, Asish Kumar Mukhopadhyay

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Acute diarrhoea caused by diarrheagenic Escherichia coli (DEC) is one of the major public health problem in developing countries, mainly in Asia and Africa. DEC consists of six pathogroups, but the majority of the cases were associated with the three pathogropus, enterotoxigenic E. coli (ETEC), enteroaggregative E. coli (EAEC), and enteropathogenic E. coli (EPEC). Hence, we studied the prevalence and antimicrobial resistance of these three major DEC pathogroups in hospitalized diarrheal patients in Kolkata, India, during 2012-2019 with a large sample size. 8,891 stool samples were processed, and 7.8% of them was identified as DEC infection screened by multiplex PCR, in which ETEC was most common (47.7%) followed by EAEC (38.4%) and EPEC (13.9%). Clinical patient history suggested that children <5 years of age were mostly affected with ETEC and EAEC, whereas people within >5-14 years of age were significantly associated with EPEC and ETEC infections. Antibiogram profile showed a high prevalence of multidrug resistant (MDR) isolates among DEC (56.9%), in which 9% were resistant to antibiotics of six different antimicrobial classes. Screening of the antibiotic resistance conferring genes in DEC showed the presence of blaCTX-M (30.2%) in highest number followed by blaTEM (27.5%), tetB (18%), sul2 (12.6%), strA (11.8%), aadA1 (9.8%), blaOXA-1 (9%), dfrA1 (1.6%) and blaSHV (1.2%) which indicates the existence of mobile genetic elements in those isolates. Therefore, the presence of MDR DEC strains in higher number alarms the public health authorities to take preventive measures before the upsurge of the DEC caused diarrhea cases in near future.

Keywords: diarrheagenic escherichia coli, ETEC, EAEC, EPEC

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569 Analysis of Saudi Breast Cancer Patients’ Primary Tumors using Array Comparative Genomic Hybridization

Authors: L. M. Al-Harbi, A. M. Shokry, J. S. M. Sabir, A. Chaudhary, J. Manikandan, K. S. Saini

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Breast cancer is the second most common cause of cancer death worldwide and is the most common malignancy among Saudi females. During breast carcinogenesis, a wide-array of cytogenetic changes involving deletions, or amplification, or translocations, of part or whole of chromosome regions have been observed. Because of the limitations of various earlier technologies, newer tools are developed to scan for changes at the genomic level. Recently, Array Comparative Genomic Hybridization (aCGH) technique has been applied for detecting segmental genomic alterations at molecular level. In this study, aCGH was performed on twenty breast cancer tumors and their matching non-tumor (normal) counterparts using the Agilent 2x400K. Several regions were identified to be either amplified or deleted in a tumor-specific manner. Most frequent alterations were amplification of chromosome 1q, chromosome 8q, 20q, and deletions at 16q were also detected. The amplification of genetic events at 1q and 8q were further validated using FISH analysis using probes targeting 1q25 and 8q (MYC gene). The copy number changes at these loci can potentially cause a significant change in the tumor behavior, as deletions in the E-Cadherin (CDH1)-tumor suppressor gene as well as amplification of the oncogenes-Aurora Kinase A. (AURKA) and MYC could make these tumors highly metastatic. This study validates the use of aCGH in Saudi breast cancer patients and sets the foundations necessary for performing larger cohort studies searching for ethnicity-specific biomarkers and gene copy number variations.

Keywords: breast cancer, molecular biology, ecology, environment

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568 Proteome-Wide Convergent Evolution on Vocal Learning Birds Reveals Insight into cAMP-Based Learning Pathway

Authors: Chul Lee, Seoae Cho, Erich D. Jarvis, Heebal Kim

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Vocal learning, the ability to imitate vocalizations based on auditory experience, is a homoplastic character state observed in different independent lineages of animals such as songbirds, parrots, hummingbirds and human. It has now become possible to perform genome-wide molecular analyses across vocal learners and vocal non-learners with the recent expansion of avian genome data. It was analyzed the whole genomes of human and 48 avian species including those belonging to the three avian vocal learning lineages, to determine if behavior and neural convergence are associated with molecular convergence in divergent species of vocal learners. Analyses of 8295 orthologous genes across bird species revealed 141 genes with amino acid substitutions specific to vocal learners. Out of these, 25 genes have vocal learner specific genetic homoplasies, and their functions were enriched for learning. Several sites in these genes are estimated under convergent evolution and positive selection. A potential role for a subset of these genes in vocal learning was supported by associations with gene expression profiles in vocal learning brain regions of songbirds and human disease that cause language dysfunctions. The key candidate gene with multiple independent lines of the evidences specific to vocal learners was DRD5. Our findings suggest cAMP-based learning pathway in avian vocal learners, indicating molecular homoplastic changes associated with a complex behavioral trait, vocal learning.

Keywords: amino acid substitutions, convergent evolution, positive selection, vocal learning

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567 Technological Innovation and Efficiency of Production of the Greek Aquaculture Industry

Authors: C. Nathanailides, S. Anastasiou, A. Dimitroglou, P. Logothetis, G. Kanlis

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In the present work we reviewed historical data of the Greek Marine aquaculture industry including adoption of new methods and technological innovation. The results indicate that the industry exhibited a rapid rise in production efficiency, employment and adoption of new technologies which reduced outbreaks of diseases, reduced production risk and the price of the farmed fish. The improvements of total quality practices and technological input on the Greek Aquaculture industry include improved survival, growth and body shape of farmed fish, which resulted from development of new aquaculture feeds and the genetic selection of the bloodstock. Also improvements in the quality of the final product were achieved via technological input in the methods and technology applied during harvesting, packaging, and transportation-preservation of farmed fish ensuring high quality of the product from the fish farm to the plate of the consumers. These parameters (health management, nutrition, genetics, harvesting and post-harvesting methods and technology) changed significantly over the last twenty years and the results of these improvements are reflected in the production efficiency of the Aquaculture industry and the quality of the final product. It is concluded that the Greek aquaculture industry exhibited a rapid growth, adoption of technologies and supply was stabilized after the global financial crisis, nevertheless, the development of the Greek aquaculture industry is currently limited by international trade sanctions, credit crunch, and increased taxation and not by limited technology or resources.

Keywords: innovation, aquaculture, total quality, management

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566 Identification of Superior Cowpea Mutant Genotypes, Their Adaptability, and Stability Under South African Conditions

Authors: M. Ntswane, N. Mbuma, M. Labuschagne, A. Mofokeng, M. Rantso

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Cowpea is an essential legume for the nutrition and health of millions of people in different regions. The production and productivity of the crop are very limited in South Africa due to a lack of adapted and stable genotypes. The improvement of nutritional quality is made possible by manipulating the genes of diverse cowpea genotypes available around the world. Assessing the adaptability and stability of the cowpea mutant genotypes for yield and nutritional quality requires examining them in different environments. The objective of the study was to determine the adaptability and stability of cowpea mutant genotypes under South African conditions and to identify the superior genotypes that combine grain yield components, antioxidants, and nutritional quality. Thirty-one cowpea genotypes were obtained from the Agricultural Research Council grain crops (ARC-GC) and were planted in Glen, Mafikeng, Polokwane, Potchefstroom, Taung, and Vaalharts during the 2021/22 summer cropping season. Significant genotype by location interactions indicated the possibility of genetic improvement of these traits. The genotype plus genotype by environment indicated broad adaptability and stability of mutant genotypes. The principal component analysis identified the association of the genotypes with the traits. Phenotypic correlation analysis showed that Zn and protein content were significant and positively correlated and suggested the possibility of indirect selection of these traits. Results from this study could be used to help plant breeders in making informed decisions and developing nutritionally improved cowpea genotypes with the aim of addressing the challenges of poor nutritional quality.

Keywords: cowpea seeds, adaptability, stability, mineral elements, protein content

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565 Using the Weakest Precondition to Achieve Self-Stabilization in Critical Networks

Authors: Antonio Pizzarello, Oris Friesen

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Networks, such as the electric power grid, must demonstrate exemplary performance and integrity. Integrity depends on the quality of both the system design model and the deployed software. Integrity of the deployed software is key, for both the original versions and the many that occur throughout numerous maintenance activity. Current software engineering technology and practice do not produce adequate integrity. Distributed systems utilize networks where each node is an independent computer system. The connections between them is realized via a network that is normally redundantly connected to guarantee the presence of a path between two nodes in the case of failure of some branch. Furthermore, at each node, there is software which may fail. Self-stabilizing protocols are usually present that recognize failure in the network and perform a repair action that will bring the node back to a correct state. These protocols first introduced by E. W. Dijkstra are currently present in almost all Ethernets. Super stabilization protocols capable of reacting to a change in the network topology due to the removal or addition of a branch in the network are less common but are theoretically defined and available. This paper describes how to use the Software Integrity Assessment (SIA) methodology to analyze self-stabilizing software. SIA is based on the UNITY formalism for parallel and distributed programming, which allows the analysis of code for verifying the progress property p leads-to q that describes the progress of all computations starting in a state satisfying p to a state satisfying q via the execution of one or more system modules. As opposed to demonstrably inadequate test and evaluation methods SIA allows the analysis and verification of any network self-stabilizing software as well as any other software that is designed to recover from failure without external intervention of maintenance personnel. The model to be analyzed is obtained by automatic translation of the system code to a transition system that is based on the use of the weakest precondition.

Keywords: network, power grid, self-stabilization, software integrity assessment, UNITY, weakest precondition

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564 Surveillance of Hepatitis C Virus Genotype Circulating in North India

Authors: Shantanu Prakash, Suruchi Shukla, Amita Jain

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Introduction: The hepatitis C virus (HCV) is a major public health problem and a leading cause of chronic liver disease. Injection drug use and individuals receiving blood and blood products are the primary modes of HCV transmission. Our study aims to establish the prevalent genotypes/ subtypes of HCV circulating in Uttar Pradesh, North India, as reported from a tertiary care hospital. Methods: It is a retrospective observational analysis of consecutive 404 HCV RNA positive cases referred to our hospital during September 2014 to April 2017. The study was approved by an institutional ethics committee. Written informed consent was taken from each participant. Clinical and demographic details of these patients were recorded using predesigned questionnaires. All the laboratory testing was carried on stored serum sample of enrolled cases. Genotyping of all 404 strains was done by Sanger’s sequencing of the core region. The phylogenetic analysis of 179 HCV strains with high -quality sequencing data was performed. Results: The distribution of prevalent genotypes/ subtypes as noted in the present study was; Genotype (GT)1a [n-101(25%)], GT1b [n-12(2.9%)], GT1c [1(0.25%)], GT3a [275(68.07%)], GT3b [9(2.2%)], GT3g [2(0.49%)], GT3i [3(0.74%)], and GT4a [1(0.24%)]. HCV genotypes GT2, GT5 and GT6 were not detected from our region. Sequence analysis showed high genotypic variability in HCV GT3. Phylogenetic analysis showed that HCV GT3 and GT1 circulating in our region were related to Indian strains reported earlier. Conclusions: HCV genotypes 3a and 1a are commonest circulating genotypes in Uttar Pradesh (UP), India.

Keywords: Hepatitis C virus, genetic variation, bioinformatics, genotype, HCV

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563 Complex Management of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

Authors: Abdullah A. Al Qurashi, Hattan A. Hassani, Bader K. Alaslap

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Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) is an uncommon, inheritable cardiac disorder characterized by the progressive substitution of cardiac myocytes by fibro-fatty tissues. This pathologic substitution predisposes patients to ventricular arrhythmias and right ventricular failure. The underlying genetic defect predominantly involves genes encoding for desmosome proteins, particularly plakophilin-2 (PKP2). These aberrations lead to impaired cell adhesion, heightening the susceptibility to fibrofatty scarring under conditions of mechanical stress. Primarily, ARVD/C affects the right ventricle, but it can also compromise the left ventricle, potentially leading to biventricular heart failure. Clinical presentations can vary, spanning from asymptomatic individuals to those experiencing palpitations, syncopal episodes, and, in severe instances, sudden cardiac death. The establishment of a diagnostic criterion specifically tailored for ARVD/C significantly aids in its accurate diagnosis. Nevertheless, the task of early diagnosis is complicated by the disease's frequently asymptomatic initial stages, and the overall rarity of ARVD/C cases reported globally. In some cases, as exemplified by the adult female patient in this report, the disease may advance to terminal stages, rendering therapies like Ventricular Tachycardia (VT) ablation ineffective. This case underlines the necessity for increased awareness and understanding of ARVD/C to aid in its early detection and management. Through such efforts, we aim to decrease morbidity and mortality associated with this challenging cardiac disorder.

Keywords: arrhythmogenic right ventricular dysplasia, cardiac disease, interventional cardiology, cardiac electrophysiology

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562 A Cross-Sectional Study on Management of Common Mental Disorders Among Patients Living with HIV/AIDS Attending Antiretroviral Treatment (ART) Clinic in Hoima Regional Referral Hospital Uganda

Authors: Agodo Mugenyi Herbert

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Background: A high prevalence of both HIV infection and mental disorders exists in Sub-Saharan Africa, however there is little integration of care for mental health disorders among HIV-infected individuals. The study aimed at determining the management of common mental disorders among HIV/AIDS clients attending Antiretroviral clinic in Hoima regional referral hospital. Significancy of the study: The information generated by this study would help mental health advocates, ministry of health, Civil society organizations in HIV programming to advocate for enhanced mental health care for PLWHA. The result will be used in policy development and lobbying for integration of mental health care in HIV/AIDS care. Methods: This study applied a cross sectional design. It involved data collection from clients with HIV/AIDS attending ART clinic in Hoima regional referral hospital at one specific point in time. It aimed at providing data on the entire population under study. Data was collected from Hoima Regional Referral Hospital at the ART clinic. Data analysis was performed using SPSS version 24. Results: 66 HIV/AIDS clients and 10 health workers in the ART clinic who participated fully completed the study. The overall prevalence of at least one form of mental disorder was 83%. Majority of the health care practitioner do not use pharmacological, psychological, and social interventions to manage such disorders. Conclusion: These results are suggestive of a significant proportion of the HIV-infected patients experiencing psychological difficulty for which they do not receive treatment Recommendations: Current care practices applied to patients with HIV/AIDS should be integrated more generally to include treatment services to identify and manage common mental disorders.

Keywords: common mental disorders, mental health, mental illness, and severe mental illness

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561 Dislocation Density-Based Modeling of the Grain Refinement in Surface Mechanical Attrition Treatment

Authors: Reza Miresmaeili, Asghar Heydari Astaraee, Fereshteh Dolati

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In the present study, an analytical model based on dislocation density model was developed to simulate grain refinement in surface mechanical attrition treatment (SMAT). The correlation between SMAT time and development in plastic strain on one hand, and dislocation density evolution, on the other hand, was established to simulate the grain refinement in SMAT. A dislocation density-based constitutive material law was implemented using VUHARD subroutine. A random sequence of shots is taken into consideration for multiple impacts model using Python programming language by utilizing a random function. The simulation technique was to model each impact in a separate run and then transferring the results of each run as initial conditions for the next run (impact). The developed Finite Element (FE) model of multiple impacts describes the coverage evolution in SMAT. Simulations were run to coverage levels as high as 4500%. It is shown that the coverage implemented in the FE model is equal to the experimental coverage. It is depicted that numerical SMAT coverage parameter is adequately conforming to the well-known Avrami model. Comparison between numerical results and experimental measurements for residual stresses and depth of deformation layers confirms the performance of the established FE model for surface engineering evaluations in SMA treatment. X-ray diffraction (XRD) studies of grain refinement, including resultant grain size and dislocation density, were conducted to validate the established model. The full width at half-maximum in XRD profiles can be used to measure the grain size. Numerical results and experimental measurements of grain refinement illustrate good agreement and show the capability of established FE model to predict the gradient microstructure in SMA treatment.

Keywords: dislocation density, grain refinement, severe plastic deformation, simulation, surface mechanical attrition treatment

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560 Measurement and Monitoring of Graduate Attributes via iCGPA Implementation and ACADEMIA Programming: UNIMAS Case Study

Authors: Shanti Faridah Salleh, Azzahrah Anuar, Hamimah Ujir, Rohana Sapawi, Wan Hashim Wan Ibrahim, Noraziah Abdul Wahab, Majina Sulaiman, Raudhah Ahmadi, Al-Khalid Othman, Johari Abdullah

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Integrated Cumulative Grade Point Average or iCGPA is an evaluation and reporting system that represents a comprehensive development of students’ achievement in their academic programs. Universiti Malaysia Sarawak, UNIMAS has started its implementation of iCGPA in 2016. iCGPA is driven by the Outcome-Based Education (OBE) system that has been long integrated into the higher education in Malaysia. iCGPA is not only a tool to enhance the OBE concept through constructive alignment but it is also an integrated mechanism to assist various stakeholders in making decisions or planning for program improvement. The outcome of this integrated system is the reporting of students’ academic performance in terms of cognitive (knowledge), psychomotor (skills), and affective (attitude) of which the students acquire throughout the duration of their study. The iCGPA reporting illustrates the attainment of student’s attribute in the eight domains of learning outcomes listed in the Malaysian Qualifications Framework (MQF). This paper discusses on the implementation of iCGPA in UNIMAS on the policy and strategy to direct the whole university to implement the iCGPA. The steps and challenges in integrating the exsting Outcome-Based Education and utilising iCGPA as a tool to quantify the students’ achievement are also highlighted in this paper. Finally, the ACADEMIA system, which is a dedicated centralised program ensure the implementation of iCGPA is a success has been developed. This paper discusses the structure and the analysis of ACADEMIA program and concludes the analysis made on the improvement made on the implementation of constructive alignment in all 40 programs involves in iCGPA implementation.

Keywords: constructive alignment, holistic graduates, mapping of assessment, programme outcome

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559 Assessment of Lactic Acid Bacteria of Probiotic Potentials in Dairy Produce in Saudi Arabia

Authors: Rashad R. Al-Hindi

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The aim of this study was to isolate and identify lactic acid bacteria and evaluate their therapeutic and food preservation importance. Ninety-three suspected lactic acid bacteria (LAB) were isolated from thirteen different raw and fermented milk of indigenous sources in the Kingdom of Saudi Arabia. The identification of forty-six selected LAB strains and genetic relatedness were performed based on 16S rDNA gene sequence comparison. The LAB counts in certain samples were higher under microaerobic than anaerobic conditions. The identified LAB belonged to genera Enterococcus (16 strains), Lactobacillus (9 strains), Weissella (10 strains), Streptococcus (8 strains) and Lactococcus (3 strains). Phylogenetic tree generated from the full-length (~1.6 kb) sequences confirmed previous findings. Utilization of shorter 16S rDNA sequences (~1.0 kb) also discriminated among strains of which V2 region was the most effective. None of the strains exhibited resistance to clinically relevant antibiotics or undesirable hemolytic activity, while they differed in other probiotic characteristics, e.g., tolerance to acidic pH, resistance to bile salt, and antibacterial activity. In conclusion, the isolates Lactobacillus casei MSJ1, Lactobacillus casei Dwan5, Lactobacillus plantarum EyLan2 and Enterococcus faecium Gail-BawZir8 are likely the best probiotic LAB and we speculate that studying the synergistic effects of bacterial combinations might result in the occurrence of more effective probiotic potential. We argue that the raw and fermented milk of animals hosted in Saudi Arabia, especially stirred yogurt (Laban) made from camel milk, are rich in LAB with promising probiotics potential.

Keywords: fermented foods, lactic acid bacteria, probiotics, Saudi Arabia

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558 Stroke Rehabilitation via Electroencephalogram Sensors and an Articulated Robot

Authors: Winncy Du, Jeremy Nguyen, Harpinder Dhillon, Reinardus Justin Halim, Clayton Haske, Trent Hughes, Marissa Ortiz, Rozy Saini

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Stroke often causes death or cerebro-vascular (CV) brain damage. Most patients with CV brain damage lost their motor control on their limbs. This paper focuses on developing a reliable, safe, and non-invasive EEG-based robot-assistant stroke rehabilitation system to help stroke survivors to rapidly restore their motor control functions for their limbs. An electroencephalogram (EEG) recording device (EPOC Headset) and was used to detect a patient’s brain activities. The EEG signals were then processed, classified, and interpreted to the motion intentions, and then converted to a series of robot motion commands. A six-axis articulated robot (AdeptSix 300) was employed to provide the intended motions based on these commends. To ensure the EEG device, the computer, and the robot can communicate to each other, an Arduino microcontroller is used to physically execute the programming codes to a series output pins’ status (HIGH or LOW). Then these “hardware” commends were sent to a 24 V relay to trigger the robot’s motion. A lookup table for various motion intensions and the associated EEG signal patterns were created (through training) and installed in the microcontroller. Thus, the motion intention can be direct determined by comparing the EEG patterns obtaibed from the patient with the look-up table’s EEG patterns; and the corresponding motion commends are sent to the robot to provide the intended motion without going through feature extraction and interpretation each time (a time-consuming process). For safety sake, an extender was designed and attached to the robot’s end effector to ensure the patient is beyond the robot’s workspace. The gripper is also designed to hold the patient’s limb. The test results of this rehabilitation system show that it can accurately interpret the patient’s motion intension and move the patient’s arm to the intended position.

Keywords: brain waves, EEG sensor, motion control, robot-assistant stroke rehabilitation

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557 Genome Analysis of Lactobacillus Plantarum and Lactobacillus Brevis Isolated From Traditionally Fermented Ethiopian Kocho and Their Probiotic Properties

Authors: Guesh Mulaw, Haile Beruhulay, Anteneh Tesfaye, Tesfaye Sisay Diriba Muleta

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Probiotics are live microorganisms that, when administered in adequate amounts, promote the health of a consumer. The present work aims to study the whole genome sequence of probiotic strains of lactic acid bacteria (LAB) isolated from traditional Ethiopian fermented kocho for bacteriocin production and to evaluate their probiotic properties. LAB were isolated from traditionally fermented kocho samples and characterized following standard methods. Accordingly, a total of 150 LAB were isolated, of which 7 (4.67%) isolates showed 50.52-74.05% and 33.33-62.40% survival rates at pH 2 for 3 and 6 h, respectively. The 7 acid-tolerant isolates were also tolerated 0.3% bile salt for 24 h with 88.96 to 98.10% survival. The acid and bile salt-tolerant LAB isolates also inhibited some reference foodborne pathogenic bacteria to varying degrees. All 7 acid- and bile salt-tolerant isolates were susceptible to ampicillin, tetracycline and erythromycin. However, the potent isolates showed remarkable resistance to kanamycin. Likewise, four of the 7 isolates were resistant to streptomycin, but three of the 7 isolates were sensitive to streptomycin. The identification of the seven selected probiotic LAB isolates and their genetic relatedness was performed based on whole-genome sequence comparisons. Consequently, these isolates belonged to Lactobacillus species, including 6 Lb. plantarum, 1 Lb. brevis. Among the 7 potential probiotic LAB strains, BAGEL predicted 2 bacteriocin for class II in the genome of 7 strains. The 7 Lactobacillus strains were found to be potentially useful for producing functional products and could be suitable probiotic candidates for food processing industries

Keywords: ferneted foods, kocho, probiotics, lactic acid bacteria

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556 Single Protoplast of Murraya paniculata L. Jack Regenerated Into Plantlets

Authors: Hasan Basri Jumin, Danil Endriand Basri

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Isolated protoplast from embryogenic callus of orange Jessamine (Murraya paniculata L. (Jack) cultured and maintained under growth chamber at the temperature +25oC. The parameter observed are the plating efficiency, the number of spherical embryos, heard-shaped embryos-like structure, shoot formation, and plantlets obtained. Treatment was arranged with 0.0, 0.001, 0.01, 0.1 or 1.0 mg 1-1 Naphthalene acetic acid (NAA), and 0, 300, 500 mg 1/l malt extract (ME) and 0.M sorbitol in the medium with 2.5 % sucrose. Interaction between 0.001 mg/l NAA and 500 mg/l was observed the higher percentage of planting efficiency. For embryo development from callus, the media was added to 0.0 mg/l, 0.001 mg/l, 0.01 ,mg/l, 0.1 mg/l, 1.0 mg/l NAA, and 1.0 %, 2.0 %, 3.0 %, 4.0 % sucrose. Media supplemented with 0.01mg/l NAA, and 1.0% sucrose was found to be a suitable medium for the development of spherical somatic embryos. A combination of 0.1 mg/ indole acetic acid (IAA) and 0.1 mg/l zeatin constituted the spherical somatic embryo became heart-shaped embryos-like structure. A combination between GA3 0.1 mg 1/l GA3 and 0.1 mg 1-1 zeatin is looking high, growing the heart-shaped embryos-like structure to form a shoot. Cells were developed into spherical embryos and grew into heart-shaped embryos, and then spherical somatic embryos developed into shoot formation. Sequence from single protoplast to plantlets was obtained by using a low concentration of plant growth regulator and sucrose; This recovery of single protoplast to be completed plantlets is a new technology in plant cell culture, and this could be used in genetic engineering in citrus.

Keywords: heart-shaped-embryos-like-structure, Muraya-paniculata, plant-growth-regulator, spherical- somatic-embryo, single protoplast, glucose

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555 FDX1, a Cuproptosis-Related Gene, Identified as a Potential Target for Human Ovarian Aging

Authors: Li-Te Lin, Chia-Jung Li, Kuan-Hao Tsui

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Cuproptosis, a newly identified cell death mechanism, has attracted attention for its association with various diseases. However, the genetic interplay between cuproptosis and ovarian aging remains largely unexplored. This study aims to address this gap by analyzing datasets related to ovarian aging and cuproptosis. Spatial transcriptome analyses were conducted in the ovaries of both young and aged female mice to elucidate the role of FDX1. Comprehensive bioinformatics analyses, facilitated by R software, identified FDX1 as a potential cuproptosis-related gene with implications for ovarian aging. Clinical infertility biopsies were examined to validate these findings, showing consistent results in elderly infertile patients. Furthermore, pharmacogenomic analyses of ovarian cell lines explored the intricate association between FDX1 expression levels and sensitivity to specific small molecule drugs. Spatial transcriptome analyses revealed a significant reduction in FDX1 expression in aging ovaries, supported by consistent findings in biopsies from elderly infertile patients. Pharmacogenomic investigations indicated that modulating FDX1 could influence drug responses in ovarian-related therapies. This study pioneers the identification of FDX1 as a cuproptosis-related gene linked to ovarian aging. These findings not only contribute to understanding the mechanisms of ovarian aging but also position FDX1 as a potential diagnostic biomarker and therapeutic target. Further research may establish FDX1's pivotal role in advancing precision medicine and therapies for ovarian-related conditions.

Keywords: cuproptosis, FDX1, ovarian aging, biomarker

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554 Gonadal Maturation in Pen Shells Pinna Rudis and Pinna Nobilis Stimulated by Reproductive Neuropeptides

Authors: Ntalamagka N., Sanchis-Benlloch P. J., Mayoral-Serrano R., Tena-Medialdea J., García-March J. R.

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The pen shell Pinna nobilis population has declined dramatically since 2016 due to die-off events observed in the whole extent of the Mediterranean Sea associated with the protozoan Haplosporidium pinnae. As of 2019, it is considered a critically endangered species. Due to its ecological importance and its endangered status, several initiatives have been developed for its salvation and recovery. This research is an effort to understand and control its reproduction under captivity. As a limited number of Pinna nobilis individuals could be used for experimentation, the possibility of using the Pinna rudis as a model animal was explored. The molecular mechanism that regulates the reproduction of both species is unknown; consequently, transcriptomic analysis was performed to identify neuropeptides that are expressed in the key regulatory tissues of the visceral ganglia and gonads of both species. Neuropeptides form an important group of signaling peptides that regulate reproductive, behavioral and physiological functions in molluscs. In total, 17 neuropeptide precursors were identified in P. nobilis and 14 in P. rudis transcriptomes; 14 of them were identical in both species. This affinity verified the genetic similarity of these species at the reproduction level. APGWamide, buccalin, ELH and GnRH were tested in P. rudis and demonstrated their capacity to advance gonadal maturation and trigger spawning while spawning was recorded in P. nobilis after the usage of APGWamide and buccalin. The neuropeptides were administered using intramuscular injection and cholesterol implants following relative literature as well as a new method was developed for external administration without the use of anesthesia using a mathematical model. The know-how of this research will not only lead to the survival of the species but also will narrow the horizons of broodstock conditioning of other similar species.

Keywords: neuropeptides, Pinna nobilis, reproduction, transcriptomics

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553 Thermodynamic Modeling and Exergoeconomic Analysis of an Isobaric Adiabatic Compressed Air Energy Storage System

Authors: Youssef Mazloum, Haytham Sayah, Maroun Nemer

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The penetration of renewable energy sources into the electric grid is significantly increasing. However, the intermittence of these sources breaks the balance between supply and demand for electricity. Hence, the importance of the energy storage technologies, they permit restoring the balance and reducing the drawbacks of intermittence of the renewable energies. This paper discusses the modeling and the cost-effectiveness of an isobaric adiabatic compressed air energy storage (IA-CAES) system. The proposed system is a combination among a compressed air energy storage (CAES) system with pumped hydro storage system and thermal energy storage system. The aim of this combination is to overcome the disadvantages of the conventional CAES system such as the losses due to the storage pressure variation, the loss of the compression heat and the use of fossil fuel sources. A steady state model is developed to perform an energy and exergy analyses of the IA-CAES system and calculate the distribution of the exergy losses in the latter system. A sensitivity analysis is also carried out to estimate the effects of some key parameters on the system’s efficiency, such as the pinch of the heat exchangers, the isentropic efficiency of the rotating machinery and the pressure losses. The conducted sensitivity analysis is a local analysis since the sensibility of each parameter changes with the variation of the other parameters. Therefore, an exergoeconomic study is achieved as well as a cost optimization in order to reduce the electricity cost produced during the production phase. The optimizer used is OmOptim which is a genetic algorithms based optimizer.

Keywords: cost-effectiveness, Exergoeconomic analysis, isobaric adiabatic compressed air energy storage (IA-CAES) system, thermodynamic modeling

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552 Modelling, Assessment, and Optimisation of Rules for Selected Umgeni Water Distribution Systems

Authors: Khanyisile Mnguni, Muthukrishnavellaisamy Kumarasamy, Jeff C. Smithers

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Umgeni Water is a water board that supplies most parts of KwaZulu Natal with bulk portable water. Currently, Umgeni Water is running its distribution system based on required reservoir levels and demands and does not consider the energy cost at different times of the day, number of pump switches, and background leakages. Including these constraints can reduce operational cost, energy usage, leakages, and increase performance. Optimising pump schedules can reduce energy usage and costs while adhering to hydraulic and operational constraints. Umgeni Water has installed an online hydraulic software, WaterNet Advisor, that allows running different operational scenarios prior to implementation in order to optimise the distribution system. This study will investigate operation scenarios using optimisation techniques and WaterNet Advisor for a local water distribution system. Based on studies reported in the literature, introducing pump scheduling optimisation can reduce energy usage by approximately 30% without any change in infrastructure. Including tariff structures in an optimisation problem can reduce pumping costs by 15%, while including leakages decreases cost by 10%, and pressure drop in the system can be up to 12 m. Genetical optimisation algorithms are widely used due to their ability to solve nonlinear, non-convex, and mixed-integer problems. Other methods such as branch and bound linear programming have also been successfully used. A suitable optimisation method will be chosen based on its efficiency. The objective of the study is to reduce energy usage, operational cost, and leakages, and the feasibility of optimal solution will be checked using the Waternet Advisor. This study will provide an overview of the optimisation of hydraulic networks and progress made to date in multi-objective optimisation for a selected sub-system operated by Umgeni Water.

Keywords: energy usage, pump scheduling, WaterNet Advisor, leakages

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551 CMPD: Cancer Mutant Proteome Database

Authors: Po-Jung Huang, Chi-Ching Lee, Bertrand Chin-Ming Tan, Yuan-Ming Yeh, Julie Lichieh Chu, Tin-Wen Chen, Cheng-Yang Lee, Ruei-Chi Gan, Hsuan Liu, Petrus Tang

Abstract:

Whole-exome sequencing focuses on the protein coding regions of disease/cancer associated genes based on a priori knowledge is the most cost-effective method to study the association between genetic alterations and disease. Recent advances in high throughput sequencing technologies and proteomic techniques has provided an opportunity to integrate genomics and proteomics, allowing readily detectable mutated peptides corresponding to mutated genes. Since sequence database search is the most widely used method for protein identification using Mass spectrometry (MS)-based proteomics technology, a mutant proteome database is required to better approximate the real protein pool to improve disease-associated mutated protein identification. Large-scale whole exome/genome sequencing studies were launched by National Cancer Institute (NCI), Broad Institute, and The Cancer Genome Atlas (TCGA), which provide not only a comprehensive report on the analysis of coding variants in diverse samples cell lines but a invaluable resource for extensive research community. No existing database is available for the collection of mutant protein sequences related to the identified variants in these studies. CMPD is designed to address this issue, serving as a bridge between genomic data and proteomic studies and focusing on protein sequence-altering variations originated from both germline and cancer-associated somatic variations.

Keywords: TCGA, cancer, mutant, proteome

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550 Integrating Human Rights into Countering Violent Extremism: A Comparative Analysis of Women Without Borders and Hedayah Initiatives

Authors: Portia Muehlbauer

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This paper examines the evolving landscape of preventing and countering violent extremism (PCVE) by delving into the growing importance of integrating human rights principles into violence prevention strategies on the local, community level. This study sheds light on the underlying theoretical frameworks of violent extremism and the influence of gender while investigating the intersection between human rights preservation and violent extremism prevention. To gain practical insight, the research focuses on two prominent international non-governmental organizations, Women without Borders (WwB) and Hedayah, and their distinct PCVE initiatives. WwB adopts a gender-sensitive approach, implementing parental education programs that empower mothers in at-risk communities to prevent the spread of violent extremism. In contrast, Hedayah takes an indirect route, employing capacity building programs that enhance the capabilities of educators, social workers, and psychologists in early intervention, rehabilitation and reintegration efforts. Qualitative data for this comparative analysis was collected through an extensive four-month internship at WwB during the fall of 2020, a three-month internship at Hedayah in the spring of 2021, a thought-provoking semi-structured interview with the executive director of WwB, personal field notes, and a comprehensive discourse analysis of the prevailing literature on human rights considerations in PCVE practices. This study examines the merits and challenges of integrating human rights into PCVE programming through the lens of both organizations, WwB and Hedayah. The findings of this study will inform policymakers, practitioners, and researchers on the intricate relationship between human rights protection and effective PCVE strategies.

Keywords: preventing and countering violent extremism, human rights, counterterrorism, peacebuilding, capacity building programs, gender studies

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549 Family Planning Programming for Youths and Adolescents in Nigeria

Authors: Ashimolowo Olubunmi

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Contraception use helps prevent pregnancy as well as health-related challenges, most especially among youths and girls. Our communities are bedeviled with many problems, including rape, defilement, neglect by the spouse, and intimate partner violence. Current interventions target only adults, with most facilities having youth and unfriendly adolescent services. To further support the need for this research, especially with our target beneficiaries, the partnership embarked on qualitative evidence-finding research through focus group discussions and in-depth-interview in Abeokuta and Ibadan (the capital cities of Ogun). The Focus Group Discussion (FGD) sessions were held in the state with adolescents (10-18 years) and young women (18-30 years). The result revealed that teenagers and youths who receive formal and sexual education on abstinence, and birth control methods, are likely to have healthier sexual behaviours through the promotion of abstinence and the use of condoms and other forms of contraceptives at their first intercourse, thereby protecting themselves against HIV/AIDs (Human Immunodeficiency Virus/Acquired immunodeficiency syndrome. The result further revealed that parents do not discuss issues around Adolescent and Sexual Reproductive Health (ASRH) with their adolescent girls, leading to gaps in knowledge of ASRH. Stakeholders’ involvement and trust are low. Respondents noted that there were few outreaches on ASRH and that youth-friendly adolescent centres are not common in the community. Respondents noted that there were few outreaches on ASRH organised within the community. Also, youth-friendly services were not common. There is a need to work with all stakeholders to promote those foundational life skills on pubertal changes, menstruation, and sexual life to prepare youths and girls for challenges ahead through sex education; we should work to institutionalize youth and adolescent-friendly Sexual and Reproductive Health (SRH) in our communities.

Keywords: contraception, family planning, focus group discussion, adolescents

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548 Hypervirulent Klebsiella Pneumoniae in a South African Tertiary Hospital – Clinical Profile, Genetic Determinants and Virulence in Caenorhabditis Elegans

Authors: Dingiswayo Likhona, Arko-Cobbah Emmanuel, Carolina Pohl, Nthabiseng Z. Mokoena, Jolly Musoke

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A distinct strain of Klebsiella pneumoniae (K. pneumoniae), referred to as hypervirulent (hvKp), is associated with invasive infections such as an invasive pyogenic liver abscess in young and healthy individuals. In South Africa, limited information is known about the prevalence and virulence of this hvKp strain. Thus, this study aimed to determine the prevalence of hvKp and virulence-associated factors in K. pneumoniae isolates from one of the largest Tertiary hospitals in a South African province. A total of 74 K. pneumoniae isolates were received from Pelonomi National Health Laboratory Services (NHLS), Bloemfontein. Virulence-associated genes (rmpA, capsule serotype K1/K2, iroB, and irp2) were screened, and the virulence of hvKp vs. classical Klebsiella pneumoniae (cKp) was investigated using Caenorhabditis elegans nematode model. The iutA (aerobactin transporter) gene was used as a primary biomarker of hvKp. An average of 12% (9/74) of cases were defined as hvKp. Moreover, hvKp was found to be significantly more virulent in vivo Caenorhabditis elegans relative to cKp. The virulence-associated genes (rmpA, iroB, hmv phenotype, and capsule K1/K2) were significantly (p< 0.05) associated with hvKp. Findings from this study confirm the presence of hvKp in one large Tertiary hospital in South Africa. However, the low prevalence and mild to moderate clinical presentation suggest a marginal threat to public health. Further studies in different settings are required to establish the true potential impact of hvKp in developing countries.

Keywords: hypervirulent klebsiella pneumoniae, virulence, caenorhabditis elegans, aerobactin (iutA)

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547 The Effect of Cow Reproductive Traits on Lifetime Productivity and Longevity

Authors: Lāsma Cielava, Daina Jonkus, Līga Paura

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The age of first calving (AFC) is one of the most important factors that have a significant impact on cow productivity in different lactations and its whole life. A belated AFC leads to reduced reproductive performance and it is one of the main reasons for reduced longevity. Cows that calved in time period from 2001-2007 and in this time finished at least four lactations were included in the database. Data were obtained from 68841 crossbred Holstein Black and White (HM), crossbred Latvian Brown (LB), and Latvian Brown genetic resources (LBGR) cows. Cows were distributed in four groups depending on age at first calving. The longest lifespan was conducted for LBGR cows, but they were also characterized with lowest lifetime milk yield and life day milk yield. HM breed cows had the shortest lifespan, but in the lifespan of 2862.2 days was obtained in average 37916.4 kg milk accordingly 13.2 kg milk in one life day. HM breed cows were also characterized with longer calving intervals (CI) in first four lactations, but LBGR cows had the shortest CI in the study group. Age at first calving significantly affected the length of CI in different lactations (p<0.05). HM cows that first time calved >30 months old in the fourth lactation had the longest CI in all study groups (421.4 days). The LBGR cows were characterized with the shortest CI, but there was slight increase in second and third lactation. Age at first calving had a significant impact on cows’ age in each calving time. In the analysis, cow group was conducted that cows with age at first calving <24 months or in average 580.5 days at the time of fifth calving were 2156.7 days (5.9 years) old, but cows with age at first calving >30 months (932.6 days) at the time of fifth calving were 2560.9 days (7.3 years) old.

Keywords: age at first calving, calving interval, longevity, milk yield

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546 Genetic Polymorphism in the Vitamin D Receptor Gene and 25-Hydroxyvitamin D Serum Levels in East Indian Women with Polycystic Ovary Syndrome

Authors: Dipanshu Sur, Ratnabali Chakravorty

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Background: Polycystic ovary syndrome (PCOS) is the most common metabolic abnormality such as changes in lipid profile, diabetes, hypertension and metabolic syndrome occurring in young women of reproductive age. Low vitamin D levels were found to be associated with the development of obesity and insulin resistance in women with PCOS. Variants on vitamin D receptor (VDR) gene have also been related to metabolic comorbidities in general population. Aim: The aim of this case-control study was to investigate whether the VDR gene polymorphisms are associated with susceptibility to PCOS. Methods: Women with PCOS and a control group, all aged 16-40 years, were enrolled. Genotyping of VDR Fok-I (rs2228570), VDR Apa-I (rs7975232) as well as GC (rs2282679), DHCR7 (rs12785878) SNPs between groups were determined by using direct sequencing. Serum 25-hydroxyvitamin D [25(OH)] levels were measured by ELISA. Results: Mean serum 25(OH)D in the PCOS and control samples were 19.08±7 and 23.27±6.03 (p=0.048) which were significantly lower in PCOS patients compared with controls. CC genotype of the VDR Apa-I SNP was same frequent in PCOS (25.6%) and controls (25.6%) (OR: 0.9995; 95%CI: 0.528 to 1.8921; p= 0.9987). The CC genotype was also significantly associated with both lower E2 (p=0.031) and Androstenedione levels (p=0.062). We observed a significant association of GC polymorphism with 25(OH)D levels. PCOS women carrying the GG genotype (in GC genes) had significantly higher risk for vitamin D deficiency than women carrying the TT genotype. Conclusions: In conclusion, data from this study indicate that vitamin D levels are lower, and vitamin D deficiency more frequent, in PCOS than in controls. The present findings suggest that the Apa-I, Fok-I polymorphism of the VDR gene is associated with PCOS and seems to modulate ovarian steroid secretion. Further studies are needed to better clarify the biological mechanisms by which the polymorphism influences PCOS risk.

Keywords: vitamin D receptor, polymorphism, vitamin D, polycystic ovary syndrome

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545 Genome Editing in Sorghum: Advancements and Future Possibilities: A Review

Authors: Micheale Yifter Weldemichael, Hailay Mehari Gebremedhn, Teklehaimanot Hailesslasie

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The advancement of target-specific genome editing tools, including clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein9 (Cas9), mega-nucleases, base editing (BE), prime editing (PE), transcription activator-like endonucleases (TALENs), and zinc-finger nucleases (ZFNs), have paved the way for a modern era of gene editing. CRISPR/Cas9, as a versatile, simple, cost-effective and robust system for genome editing, has dominated the genome manipulation field over the last few years. The application of CRISPR/Cas9 in sorghum improvement is particularly vital in the context of ecological, environmental and agricultural challenges, as well as global climate change. In this context, gene editing using CRISPR/Cas9 can improve nutritional value, yield, resistance to pests and disease and tolerance to different abiotic stress. Moreover, CRISPR/Cas9 can potentially perform complex editing to reshape already available elite varieties and new genetic variations. However, existing research is targeted at improving even further the effectiveness of the CRISPR/Cas9 genome editing techniques to fruitfully edit endogenous sorghum genes. These findings suggest that genome editing is a feasible and successful venture in sorghum. Newer improvements and developments of CRISPR/Cas9 techniques have further qualified researchers to modify extra genes in sorghum with improved efficiency. The fruitful application and development of CRISPR techniques for genome editing in sorghum will not only help in gene discovery, creating new, improved traits in sorghum regulating gene expression sorghum functional genomics, but also in making site-specific integration events.

Keywords: CRISPR/Cas9, genome editing, quality, sorghum, stress, yield

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544 Legal Personality and Responsibility of Robots

Authors: Mehrnoosh Abouzari, Shahrokh Sahraei

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Arrival of artificial intelligence or smart robots in the modern world put them in charge on pericise and at risk. So acting human activities with robots makes criminal or civil responsibilities for their acts or behavior. The practical usage of smart robots has entered them in to a unique situation when naturalization happens and smart robots are identifies as members of society. There would be some legal situation by adopting these new smart citizens. The first situation is about legal responsibility of robots. Recognizing the naturalization of robot involves some basic right , so humans have the rights of employment, property, housing, using energy and other human rights may be employed for robots. So how would be the practice of these rights in the society and if some problems happens with these rights, how would the civil responsibility and punishment? May we consider them as population and count on the social programs? The second episode is about the criminal responsibility of robots in important activity instead of human that is the aim of inventing robots with handling works in AI technology , but the problem arises when some accidents are happened by robots who are in charge of important activities like army, surgery, transporting, judgement and so on. Moreover, recognizing independent identification for robots in the legal world by register ID cards, naturalization and civilian rights makes and prepare the same rights and obligations of human. So, the civil responsibility is not avoidable and if the robot commit a crime it would have criminal responsibility and have to be punished. The basic component of criminal responsibility may changes in so situation. For example, if designation for criminal responsibility bounds to human by sane, maturity, voluntariness, it would be for robots by being intelligent, good programming, not being hacked and so on. So it is irrational to punish robots by prisoning , execution and other human punishments for body. We may determine to make digital punishments like changing or repairing programs, exchanging some parts of its body or wreck it down completely. Finally the responsibility of the smart robot creators, programmers, the boss in chief, the organization who employed robot, the government which permitted to use robot in important bases and activities , will be analyzing and investigating in their article.

Keywords: robot, artificial intelligence, personality, responsibility

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543 Complex Management of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

Authors: Fahad Almehmadi, Abdullah Alrajhi, Bader K. Alaslab, Abdullah A. Al Qurashi, Hattan A. Hassani

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Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) is an uncommon, inheritable cardiac disorder characterized by the progressive substitution of cardiac myocytes by fibro-fatty tissues. This pathologic substitution predisposes patients to ventricular arrhythmias and right ventricular failure. The underlying genetic defect predominantly involves genes encoding for desmosome proteins, particularly plakophilin-2 (PKP2). These aberrations lead to impaired cell adhesion, heightening the susceptibility to fibrofatty scarring under conditions of mechanical stress. Primarily, ARVD/C affects the right ventricle, but it can also compromise the left ventricle, potentially leading to biventricular heart failure. Clinical presentations can vary, spanning from asymptomatic individuals to those experiencing palpitations, syncopal episodes, and, in severe instances, sudden cardiac death. The establishment of a diagnostic criterion specifically tailored for ARVD/C significantly aids in its accurate diagnosis. Nevertheless, the task of early diagnosis is complicated by the disease's frequently asymptomatic initial stages, and the overall rarity of ARVD/C cases reported globally. In some cases, as exemplified by the adult female patient in this report, the disease may advance to terminal stages, rendering therapies like Ventricular Tachycardia (VT) ablation ineffective. This case underlines the necessity for increased awareness and understanding of ARVD/C to aid in its early detection and management. Through such efforts, we aim to decrease morbidity and mortality associated with this challenging cardiac disorder.

Keywords: ARVD/C, cardiology, interventional cardiology, cardiac electrophysiology

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