Search results for: genetic disorder

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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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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Authors: Aristi Alopoudi, Sofia Beloka, Vassiliki Pliogou

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Autism is a complex neuro-developmental disorder with a variety of difficulties in many aspects such as social interaction, communication skills and verbal communication (speech). The aim of this study was to examine the impact of therapeutic horseback riding in improving the verbal and communication skills of children diagnosed with autism during 16 sessions. The researcher examined whether the expression of speech, the use of vocabulary, semantics, pragmatics, echolalia and communication skills were influenced by the therapeutic horseback riding when we increase the frequency of the sessions. The researcher observed two subjects of primary-school aged, in a two case observation design, with autism during 16 therapeutic horseback riding sessions (one riding session per week). Compared to baseline, at the end of the 16th therapeutic session, therapeutic horseback riding increased both verbal skills such as vocabulary, semantics, pragmatics, formation of sentences and communication skills such as eye contact, greeting, participation in dialogue and spontaneous speech. It was noticeable that echolalia remained stable. Increased frequency of therapeutic horseback riding was beneficial for significant improvement in verbal and communication skills. More specifically, from the first to the last riding session there was a great increase of vocabulary, semantics, and formation of sentences. Pragmatics reached a lower level than semantics but the same as the right usage of the first person (for example, I make a hug) and echolalia used for that. A great increase of spontaneous speech was noticed. The eye contact was presented in a lower level, and there was a slow but important raise at the greeting as well as the participation in dialogue. Last but not least; this is a first study conducted in therapeutic horseback riding studying the verbal communication and communication skills in autistic children. According to the references, therapeutic horseback riding is a therapy with a variety of benefits, thus; this research made clear that in the benefits of this therapy there should be included the improvement of verbal speech and communication.

Keywords: Autism, communication skills, speech, therapeutic horseback riding

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Authors: Lubna Khondker

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Background: Melasma is a common pigmentary dermatosis, manifested by hyperpigmented macules or patches on the face, commonly occurring in females due to an acquired disorder in the melanogenesis process. Although several treatments are currently used, it remains a great challenge due to recurrence and refractory nature. It was recently reported that tranexamic acid (TA-plasmin inhibitor) is an effective treatment for melasma. Objective: This study aims to compare the efficacy and side effects of intralesional injection of Tranexamic acid with oral Tranexamic acid in the treatment of melasma. Methods: A clinical trial was done in the Department of Dermatology and Venereology, Bangabandhu Sheikh Mujib Medical University, for a period of 4 years. A total of 100 patients with melasma who did not respond to topical therapy were included in the study as group A and group B. Group A Patients were administered intralesional injection (10 mg/ml) of Tranexamic acid( TA) weekly for 6 weeks, and group B patients were treated with oral tranexamic acid 250 mg 12 hourly for 12 weeks after taking informed consent. The severity and extent of pigmentation were assessed by the modified melasma area severity index (MASI). The response to treatment was assessed by MASI at 4 weeks, 8 weeks, and 12 weeks after stopping treatment. Results: The study showed the MASI scores at the baseline, 4 weeks, 8 weeks, and 12 weeks in group A were 18.23±1.22, 6.14±3.26, 3.21±2.14 and 2.11±2.01 respectively, and in group B, 17.87±1.12, 11.21±6.25, 6.57±4.26 and 6.41±4.17 respectively. The mean MASI significantly reduced in group A compared to group B in the 4th, 8th, and 12th weeks. The present study showed that among group A patients, 56% rated excellent (>75% reduction) in outcome, 32% good (50-75% reduction), 8% moderate (25-50% reduction) and only 4% (<25% reduction) was unsatisfactory and among group B patients, 14% rated excellent in outcome, 28% good, 36% moderate and 22% was unsatisfactory. Overall improvement in our study in group A was 96% and in group B 78%. Side effects were negligible, and all the patients tolerated the treatment well. Conclusion: Based on our results, intralesional Tranexamic acid (10 mg/ml) is more effective and safer than oral Tranexamic acid in the treatment of melasma.

Keywords: intralesional tranexamic acid, melasma, oral tranexamic acid, MASI score

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Authors: Pawan Kumar Gupta, Sumana Ghosh

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Parkinson's Disease (PD) is a long-term neurodegenerative movement disorder of the central nervous system with vast symptoms related to the motor system. The common symptoms of PD are tremor, rigidity, bradykinesia/akinesia, and postural instability, but the clinical symptom includes other motor and non‐motor issues. The motor symptoms of the disease are consequence of death of the neurons in a region of the midbrain known as substantia nigra pars compacta, leading to decreased level of a neurotransmitter known as dopamine. The cause of this neuron death is not clearly known but involves formation of Lewy bodies, an abnormal aggregation or clumping of the protein alpha-synuclein in the neurons. Unfortunately, there is no cure for PD, and the management of this disease is challenging. Therefore, it is critical for a patient to be diagnosed at early stages. A limited choice of drugs is available to improve the symptoms, but those become less and less effective over time. Apart from that, with rapid growth in the field of science and technology, other methods such as multi-area brain stimulation are used to treat patients. In order to develop advanced techniques and to support drug development for treating PD patients, an accurate mathematical model is needed to explain the underlying relationship of dopamine secretion in the brain with the hand tremors. There has been a lot of effort in the past few decades on modeling PD tremors and treatment effects from a computational point of view. These models can effectively save time as well as the cost of drug development for the pharmaceutical industry and be helpful for selecting appropriate treatment mechanisms among all possible options. In this review paper, an effort is made to investigate studies on PD modeling and analysis and to highlight some of the key advances in the field over the past centuries with discussion on the current challenges.

Keywords: Parkinson's disease, deep brain stimulation, tremor, modeling

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Authors: Dheyaa Hussein, Peter Armstrong

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The phenomenon of visual disorder is prominent in contemporary townscapes. This paper provides a theoretical framework for the assessment of visual consistency in townscape in order to achieve more favourable outcomes for users. In this paper, visual consistency refers to the amount of similarity between adjacent components of townscape. The paper investigates parameters which relate to visual consistency in townscape, explores the relationships between them and highlights their significance. The paper uses arithmetic methods from outside the domain of urban design to enable the establishment of an objective approach of assessment which considers subjective indicators including users’ preferences. These methods involve the standard of deviation, colour distance and the distance between points. The paper identifies urban space as a key representative of the visual parameters of townscape. It focuses on its two components, geometry and colour in the evaluation of the visual consistency of townscape. Accordingly, this article proposes four measurements. The first quantifies the number of vertices, which are points in the three-dimensional space that are connected, by lines, to represent the appearance of elements. The second evaluates the visual surroundings of urban space through assessing the location of their vertices. The last two measurements calculate the visual similarity in both vertices and colour in townscape by the calculation of their variation using methods including standard of deviation and colour difference. The proposed quantitative assessment is based on users’ preferences towards these measurements. The paper offers a theoretical basis for a practical tool which can alter the current understanding of architectural form and its application in urban space. This tool is currently under development. The proposed method underpins expert subjective assessment and permits the establishment of a unified framework which adds to creativity by the achievement of a higher level of consistency and satisfaction among the citizens of evolving townscapes.

Keywords: townscape, urban design, visual assessment, visual consistency

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Authors: Y. Melis, E. Apicella, E. Dozio, L. Mendolicchio

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Introduction: Feeding and Eating Disorders (FED) represent the psychiatric pathology with the highest mortality rate and one of the major disorders with the highest psychiatric and clinical comorbidity. The vagus nerve represents one of the main components of the sympathetic and parasympathetic nervous system and is involved in important neurophysiological functions. In FED, there is a spectrum of symptoms which with TaVNS (Transcutaneous Auricular Vagus Nerve Stimulation) therapy, is possible to have a therapeutic efficacy. Materials and Methods: Sample subjects are composed of 15 female subjects aged > 18 ± 51. Admitted to a psychiatry community having been diagnosed according to DSM-5: anorexia nervosa (AN) (N= 9), bulimia nervosa (BN) (N= 5), binge eating disorder (BED) (N= 1). The protocol included 9 weeks of Ta-VNS stimulation at a frequency of 1.5-3.5 mA for 4 hours per day. The variables detected are the following: Heart Rate Variability (HRV), Hamilton Depression Rating Scale (HAMD-HDRS-17), Body Mass Index (BMI), Beck Anxiety Index (BAI). Results: Data analysis showed statistically significant differences between recording times (p > 0.05) in HAM-D (t0 = 18.28 ± 5.31; t4 = 9.14 ± 7.15), in BAI (t0 = 24.7 ± 10.99; t4 = 13.8 ± 7.0). The reported values show how during (T0-T4) the treatment there is a decay of the degree in the depressive state, in the state of anxiety, and an improvement in the value of BMI. In particular, the BMI in the AN-BN sub-sample had a minimum gain of 5% and a maximum of 11%. The analysis of HRV did not show a clear change among subjects, thus confirming the discordance of the activity of the sympathetic and parasympathetic nervous system in FED. Conclusions: Although the sample does not possess a relevant value to determine long-term efficacy of Ta-VNS or on a larger population, this study reports how the application of neuro-stimulation in FED may become a further approach therapeutic. Indeed, substantial improvements are highlighted in the results and confirmed hypotheses proposed by the study.

Keywords: feeding and eating disorders, neurostimulation, anxiety disorders, depression

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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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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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Authors: Vidhi Chandra, Arshpreet Singh Grewal

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A five-year-old male child born from non-consanguineous marriage, who presented with complaints of growth retardation and no appreciable increase in the penile size since birth and he was posted for de-gloving of penis with dissection of corpora under anaesthesia. After thorough preoperative evaluation it was revealed that patient had peculiar facial dysmorphism that of Robinow Syndrome, high arched palate, Mallampati grade III, mesomelic limbs, scoliotic spine and short stature. All routine investigation were within normal limit, electrocardiography (ECG) and 2D-Echocardiography (ECHO) were normal. In antero-posterior roentgenogram chest showed butterfly and hemivertebrae at multiple levels. The patient was considered to be ASA II. On the day of surgery after ensuring fasting of 6 hours, patient was taken in operation theatre, all standard ASA monitoring was done with ECG, non-invasive blood pressure, peripheral oxygen saturation (SpO2) and body temperature. The patient was pre-oxygenated with 100% oxygen with anatomical face mask. General anaesthesia was induced with Sevoflurane 1-8%, and airway was secured with an appropriate size supraglottic airway and anaesthesia was maintained with nitrous oxide and oxygen in 1:1 ratio along with sevoflurane 2%. An ultrasound guided caudal block was given owing to the skeletal deformities making it difficult even under USG guidance. Post operatively patient was given supportive care with proper hydration, antibiotics, anti-inflammatory and analgesics. He was discharged the next day and followed up weekly for a month. DISCUSSION Robinow syndrome is genetically inherited as autosomal dominant, autosomal recessive or heterogenous disorder involving tyrosine kinase ROR2 gene located on chromosome 9. It has low incidence with no preponderance for any gender. Though intelligence is normal but developmental delay and mental retardation occurs in 20%cases

Keywords: Robinow Syndrome, dwarfism, paediatric, anaesthesia

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Authors: Amani Kappi, Ana Maria Linares, Gia Mudd-Martin

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Children with Attention Deficit Hyperactivity Disorder (ADHD) are more likely to develop social skills deficits that can lead to academic underachievement, peer rejection, and maladjustment. Surveying teachers about children's social skills with ADHD will become a significant factor in identifying whether the children will be diagnosed with social skills deficits. The teacher-specific version of the Social Skills Rating System scale (SSRS-T) has been used as a screening tool for children's social behaviors. The psychometric properties of the SSRS-T have been evaluated in various populations and settings, such as when used by teachers to assess social skills for children with learning disabilities. However, few studies have been conducted to examine the psychometric properties of the SSRS-T when used to assess children with ADHD. The purpose of this study was to examine the psychometric properties of the SSRS-T and two SSRS-T subscales, Social Skills and Problem Behaviors. This was a secondary analysis of longitudinal data from the Fragile Families and Child Well-Being Study. This study included a sample of 194 teachers who used the SSRS-T to assess the social skills of children aged 8 to 10 years with ADHD. Exploratory principal components factor analysis was used to assess the construct validity of the SSRS-T scale. Cronbach’s alpha value was used to assess the internal consistency reliability of the total SSRS-T scale and the subscales. Item analyses included item-item intercorrelations, item-to-subscale correlations, and Cronbach’s alpha value changes with item deletion. The results of internal consistency reliability for both the total scale and subscales were acceptable. The results of the exploratory factor analysis supported the five factors of SSRS-T (Cooperation, Self-control, Assertion, Internalize behaviors, and Externalize behaviors) reported in the original version. Findings indicated that SSRS-T is a reliable and valid tool for assessing the social behaviors of children with ADHD.

Keywords: ADHD, children, social skills, SSRS-T, psychometric properties

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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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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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Authors: Tomas Premoli, Sareh Rowlands

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In this study, we investigate the impact of various convolutional neural network (CNN) architectures on the accuracy of diagnosing Alzheimer’s disease (AD) using patient MRI scans. Alzheimer’s disease is a debilitating neurodegenerative disorder that affects millions worldwide. Early, accurate, and non-invasive diagnostic methods are required for providing optimal care and symptom management. Deep learning techniques, particularly CNNs, have shown great promise in enhancing this diagnostic process. We aim to contribute to the ongoing research in this field by comparing the effectiveness of different CNN architectures and providing insights for future studies. Our methodology involved preprocessing MRI data, implementing multiple CNN architectures, and evaluating the performance of each model. We employed intensity normalization, linear registration, and skull stripping for our preprocessing. The selected architectures included VGG, ResNet, and DenseNet models, all implemented using the Keras library. We employed transfer learning and trained models from scratch to compare their effectiveness. Our findings demonstrated significant differences in performance among the tested architectures, with DenseNet201 achieving the highest accuracy of 86.4%. Transfer learning proved to be helpful in improving model performance. We also identified potential areas for future research, such as experimenting with other architectures, optimizing hyperparameters, and employing fine-tuning strategies. By providing a comprehensive analysis of the selected CNN architectures, we offer a solid foundation for future research in Alzheimer’s disease diagnosis using deep learning techniques. Our study highlights the potential of CNNs as a valuable diagnostic tool and emphasizes the importance of ongoing research to develop more accurate and effective models.

Keywords: Alzheimer’s disease, convolutional neural networks, deep learning, medical imaging, MRI

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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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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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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

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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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Authors: Eni Rahmi, Rasmi Rikmasari, Taufik Soemarsongko

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Background: One of the bad habits that requires a treatment and viewed as a risk factor of the temporomandibular disorder is bruxism. Bruxism defined as an awake and/or asleep parafunctional activities include grinding, gnashing, bracing or clenching of the teeth. In particular circumstances such as an increased frequency of episode, duration and the intensity of masseter contractions, caused phenomenon with pathological consequences, i.e., mandibular remodeling. The remodeling in mandibular angle was associated with the masseter and pterygoid medial muscles attachment which in its insertion area. The aim of this study was to compare the mandibular remodeling between bruxers and non-bruxers with ramus height, gonial angle and bigonial width as parameters, and to identify correlation among those parameters in bruxers, using panoramic radiographic. Methods: This study was conducted on 35 bruxers (10 phasic bruxism patients, 6 tonic bruxism patients, and 19 mixed bruxism patients) and 20 non-bruxers as control group. The data were obtained by using questionary, clinical examination, and radiographic measurement. Panoramic radiograph measurement was done using soft CBCT EPX Impla (E-Woo Korea). The data was analyzed by using Paired T-Test to see differences between parameters in both group and Pearson Correlation Test to evaluate correlation among parameters. Result: There was significant differences between bruxers and non-bruxers in ramus heights (p=0,04), bigonial widths (p=0,001), and gonial angles(p=0,015). The bruxers showed increased ramus heights and bigonial widths, in other hand, the gonial angles decreased. This study also found that there was highly correlation among ramus height, gonial angles, and bigonial widths. Conclusion: the bone remodeling occurred on inferior and posterior border of mandibular angle in bruxism patient, indicated by the form and size differences between bruxers (phasic bruxism, tonic bruxism, and mixed bruxism) with non-bruxers, which shown by panoramic radiograph.

Keywords: bruxism, ramus height, gonial angle, bigonial width

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Authors: Edwina Owusu Panin, Kwame Baah Owusu Panin

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This abstract intends to demonstrate multiple strategies of autism management in Ghana by exploring the possibilities. The advantages of adopting creative art forms as a therapeutic method. Autism is a developmental disorder that includes social interaction, communication, and repetitive behaviours. In Ghana, as in many other countries, there is a rising demand for effective intervention and support for people with autism and their families. Creative arts such as music, dance, drama and visual arts have shown promise in promoting communication, social interaction and inclusion of people with autism. These art forms provide alternative channels for self-expression and can be powerful tools for autistic people to interact with the world, their friends and families around them. Creative art forms interventions have been found to improve social skills, improve emotion regulation, promote creativity and increase self-confidence in people with autism. This study examines existing programs and interventions in Ghana involving creative art forms for people with autism through a comparative analysis. It explores the different approaches, methods and results of these interventions. By comparing and evaluating these programs, the study aims to identify best practices, challenges and areas for development in managing autism through the creative arts in Ghana. Although many schools and rehabilitation centres employ various forms in therapeutic approaches for autism. There is no comparative analysis of which type of autism and which creative art forms is suitable. The results of this study will contribute to the development of evidence-based practices for the management of autism in Ghana. It provides valuable information about the effectiveness of creative arts interventions and helps inform policy makers, educators, therapists and other stakeholders involved in autism support. Ultimately, the goal is to improve the well-being and quality of life of people with autism in Ghana and their families by promoting inclusive and accessible interventions that harness the power of creative art forms.

Keywords: autism, therapeutic, creative art, art form

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Authors: Rajlakshmi Guha, Sajjad Ansari, Shazia Nasreen, Hirak Banerjee, Jiaul Paik

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Dyslexia is a neurocognitive disorder, affecting around fifteen percent of the Indian population. The symptoms include difficulty in reading alphabet, words, and sentences. This can be difficult at the phonemic or recognition level and may further affect lexical structures. Therapeutic intervention of dyslexic children post assessment is generally done by special educators and psychologists through one on one interaction. Considering the large number of children affected and the scarcity of experts, access to care is limited in India. Moreover, unavailability of resources and timely communication with caregivers add on to the problem of proper intervention. With the development of Educational Technology and its use in India, access to information and care has been improved in such a large and diverse country. In this context, this paper proposes an ICT enabled home-based intervention program for dyslexic children which would support the child, and provide an interactive interface between expert, parents, and students. The paper discusses the details of the database design and system layout of the program. Along with, it also highlights the development of different technical aids required to build out personalized android applications for the Indian dyslexic population. These technical aids include speech database creation for children, automatic speech recognition system, serious game development, and color coded fonts. The paper also emphasizes the games developed to assist the dyslexic child on cognitive training primarily for attention, working memory, and spatial reasoning. In addition, it talks about the specific elements of the interactive intervention tool that makes it effective for home based intervention of dyslexia.

Keywords: Android applications, cognitive training, dyslexia, intervention

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Authors: Adel Khorramrouz, Monireh Ahmadi Bani, Ehsan Norouzi, Morvarid Lalenoor

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Background: Plantar pressure distribution measurement has been used for a long time to assess foot disorders. Plantar pressure is an important component affecting the foot and ankle function and Changes in plantar pressure distribution could indicate various foot and ankle disorders. Morphologic and mechanical properties of the foot may be important factors affecting the plantar pressure distribution. Accurate and early measurement may help to reduce the prevalence of pes planus. With recent developments in technology, new techniques such as machine learning have been used to assist clinicians in predicting patients with foot disorders. Significance of the study: This study proposes a neural network learning-based flat foot classification methodology using static foot pressure distribution. Methodologies: Data were collected from 895 patients who were referred to a foot clinic due to foot disorders. Patients with pes planus were labeled by an experienced physician based on clinical examination. Then all subjects (with and without pes planus) were evaluated for static plantar pressures distribution. Patients who were diagnosed with the flat foot in both feet were included in the study. In the next step, the leg length was normalized and the network was trained for plantar pressure mapping images. Findings: From a total of 895 image data, 581 were labeled as pes planus. A computational neural network (CNN) ran to evaluate the performance of the proposed model. The prediction accuracy of the basic CNN-based model was performed and the prediction model was derived through the proposed methodology. In the basic CNN model, the training accuracy was 79.14%, and the test accuracy was 72.09%. Conclusion: This model can be easily and simply used by patients with pes planus and doctors to predict the classification of pes planus and prescreen for possible musculoskeletal disorders related to this condition. However, more models need to be considered and compared for higher accuracy.

Keywords: foot disorder, machine learning, neural network, pes planus

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Authors: Henry O. Udeha, Kwaku G. Duodub, Afam I. O. Jideanic

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Finger millet (FM) [Eleusine coracana] is considered as a potential ‘‘super grain’’ by the United States National Academies as one of the most nutritious among all the major cereals. The regular consumption of FM-based diets has been associated with reduced risk of diabetes, cataract and gastrointestinal tract disorder. Hyperglycaemic, hypocholesterolaemic and anticataractogenic, and other health improvement properties have been reported. This study examined the effect of fermentation time and microbial source on physicochemical properties, phenolic compounds and antioxidant activity of two finger millet (FM) malt flours. Sorghum was used as an external reference. The grains were malted, mashed and fermented using the grain microflora and Lactobacillus fermentum. The phenolic compounds of the resulting beverage were identified and quantified using ultra-performance liquid chromatography (UPLC) and mass spectrometer system (MS). A fermentation-time dependent decrease in pH and viscosities of the beverages, with a corresponding increase in sugar content were noted. The phenolic compounds found in the FM beverages were protocatechuic acid, catechin and epicatechin. Decrease in total phenolics of the beverages was observed with increased fermentation time. The beverages exhibited 2, 2-diphenyl-1-picrylhydrazyl, 2, 2՛-azinobis-3-ethylbenzthiazoline-6-sulfonic acid radical scavenging action and iron reducing activities, which were significantly (p < 0.05) reduced at 96 h fermentation for both microbial sources. The 24 h fermented beverages retained a higher amount of total phenolics and had higher antioxidant activity compared to other fermentation periods. The study demonstrates that FM could be utilised as a functional grain in the production of non-alcoholic beverage with important phenolic compounds for health promotion and wellness.

Keywords: antioxidant activity, eleusine coracana, fermentation, phenolic compounds

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Authors: Mounir Azzam, Valerie Graw, Andreas Rienow

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The Syrian war, which commenced in 2011, has resulted in significant changes in the real estate market in the Damascus metropolitan area, with rising levels of insecurity and disputes over tenure rights. The quest for spatial justice is, therefore, imperative, and this study performs a spatiotemporal analysis to investigate the impact of the war on real estate differentiation. Using the hedonic price models including 2,411 housing transactions over the period 2010-2022, this study aims to understand the spatial dynamics of the real estate market in wartime. Our findings indicate that war variables have had a significant impact on the differentiation and depreciation of property prices. Notably, property attributes have a more substantial impact on real estate values than district location, with severely damaged buildings in Damascus city resulting in an 89% decline in prices, while prices in Rural Damascus districts have decreased by 50%. Additionally, this study examines the urban texture of Damascus using correlation and homogeneity statistics derived from the gray-level co-occurrence matrix obtained from Google Earth Engine. We monitored 250 samples from hedonic datasets within three different years of the Syrian war (2015, 2019, and 2022). Our findings show that correlation values were highly differentiated, particularly among Rural Damascus districts, with a total decline of 87.2%. While homogeneity values decreased overall between 2015 and 2019, they improved slightly after 2019. The findings have valuable implications, not only for investment prospects in setting up a successful reconstruction strategy but also for spatial justice of property rights in strongly encouraging sustainable real estate development.

Keywords: hedonic price, real estate differentiation, reconstruction strategy, spatial justice, urban texture analysis

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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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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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Authors: E. Olmos-Raya, A. Cascales Martínez, N. Minto de Sousa, M. Alcañiz Raya

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The late detection and subjectivity of the assessment of Autism Spectrum Disorder (ASD) imposed a difficulty for the children’s clinical and familiar environment. The results showed in this paper, are part of a research project about the assessment and training of social skills in children with ASD, whose overall goal is the use of virtual environments together with physiological measures in order to find a new model of objective ASD assessment based on implicit brain processes measures. In particular, this work tries to contribute by studying the differences and changes in the Skin Conductance Response (SCR) and Eye Tracking (ET) between a typical development group (TD group) and an ASD group (ASD group) after several combined stimuli using a low cost Immersive Virtual Environment (IVE). Subjects were exposed to a virtual environment that showed natural scenes that stimulated visual, auditory and olfactory perceptual system. By exposing them to the IVE, subjects showed natural behaviors while measuring SCR and ET. This study compared measures of subjects diagnosed with ASD (N = 18) with a control group of subjects with typical development (N=10) when exposed to three different conditions: only visual (V), visual and auditory (VA) and visual, auditory and olfactory (VAO) stimulation. Correlations between SCR and ET measures were also correlated with the Autism Diagnostic Observation Schedule (ADOS) test. SCR measures showed significant differences among the experimental condition between groups. The ASD group presented higher level of SCR while we did not find significant differences between groups regarding DF. We found high significant correlations among all the experimental conditions in SCR measures and the subscale of ADOS test of imagination and symbolic thinking. Regarding the correlation between ET measures and ADOS test, the results showed significant relationship between VA condition and communication scores.

Keywords: autism, electrodermal activity, eye tracking, immersive virtual environment, virtual reality

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Authors: Zahra Bahadoran, Parvin Mirmiran, Hanieh-Sadat Ejtahed, Maryam Tohidi, Fereidoun Azizi

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Background and Aim: Broccoli sprouts, rich source of bioactive compounds specially sulforaphane (SFN), have unique functional properties. This study was conducted to investigate the possible treatment effects of high-SFN broccoli sprouts powder on metabolic and liver disorders in rats fed with high-fructose corn syrup. Methods: Thirty-two male wistar rats, pretreated with an eight-week high-fructose diet (water containing 30% fructose), were randomly allocated into three groups: Baseline control (BC), control (C) (normal diet), and BSP-diet (normal diet+5% BSP). The duration of the study was 6 weeks. Biochemical measurements, liver weight and triglyceride content were evaluated and histopathological examination of liver was performed. Results: After 6-weeks, the liver weight was significantly lower in BSP group compared to controls (13.4 g vs. 11.4 g, P<0.05). After 6 weeks, a significant decrease was observed in fasting serum glucose, total cholesterol and triglyceride levels in both experimental groups (P<0.05). Compared to controls, serum levels of HDL-C were significantly higher in BSP group. The liver TG content in BSP compared to control group was lower (14.6 vs. 16.4 mg/mg tissue). The hepatic levels of alanine aminotransferase, aspartate aminotransferase and γ-glutamyl transferase had not considerable changes in the groups after the intervention period but the level of alkaline phosphatase significantly decreased in BSP group (P<0.05). The histopathological examination of liver confirmed a decrease lobular and portal inflammation and ballooning in BSP group compared to control. Conclusion: High-SFN broccoli sprouts powder has beneficials effect on metabolic and liver changes-induced by high fructose corn syrup.

Keywords: broccoli sprouts, metabolic disorders, fatty liver, food science

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Authors: Dipanshu Sur, Ratnabali Chakravorty

Abstract:

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

Procedia PDF Downloads 289

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

Abstract:

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

Procedia PDF Downloads 44

Authors: T. M. Tawfik, M. A. Badr, E. Y. El-Kady, O. E. Abdellatif

Abstract:

Electric power shortage is a serious problem in remote rural communities in Egypt. Over the past few years, electrification of remote communities including efficient on-site energy resources utilization has achieved high progress. Remote communities usually fed from diesel generator (DG) networks because they need reliable energy and cheap fresh water. The main objective of this paper is to design an optimal economic power supply from hybrid standalone energy system (HSES) as alternative energy source. It covers energy requirements for reverse osmosis desalination unit (DU) located in National Research Centre farm in Noubarya, Egypt. The proposed system consists of PV panels, Wind Turbines (WT), Batteries, and DG as a backup for supplying DU load of 105.6 KWh/day rated power with 6.6 kW peak load operating 16 hours a day. Optimization of HSES objective is selecting the suitable size of each of the system components and control strategy that provide reliable, efficient, and cost-effective system using net present cost (NPC) as a criterion. The harmonization of different energy sources, energy storage, and load requirements are a difficult and challenging task. Thus, the performance of various available configurations is investigated economically and technically using iHOGA software that is based on genetic algorithm (GA). The achieved optimum configuration is further modified through optimizing the energy extracted from renewable sources. Effective minimization of energy charging the battery ensures that most of the generated energy directly supplies the demand, increasing the utilization of the generated energy.

Keywords: energy management, hybrid system, renewable energy, remote area, optimization

Procedia PDF Downloads 186