Search results for: premature chromosome condensation procedure
Commenced in January 2007
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Edition: International
Paper Count: 2639

Search results for: premature chromosome condensation procedure

2579 Generalized Correlation Coefficient in Genome-Wide Association Analysis of Cognitive Ability in Twins

Authors: Afsaneh Mohammadnejad, Marianne Nygaard, Jan Baumbach, Shuxia Li, Weilong Li, Jesper Lund, Jacob v. B. Hjelmborg, Lene Christensen, Qihua Tan

Abstract:

Cognitive impairment in the elderly is a key issue affecting the quality of life. Despite a strong genetic background in cognition, only a limited number of single nucleotide polymorphisms (SNPs) have been found. These explain a small proportion of the genetic component of cognitive function, thus leaving a large proportion unaccounted for. We hypothesize that one reason for this missing heritability is the misspecified modeling in data analysis concerning phenotype distribution as well as the relationship between SNP dosage and the phenotype of interest. In an attempt to overcome these issues, we introduced a model-free method based on the generalized correlation coefficient (GCC) in a genome-wide association study (GWAS) of cognitive function in twin samples and compared its performance with two popular linear regression models. The GCC-based GWAS identified two genome-wide significant (P-value < 5e-8) SNPs; rs2904650 near ZDHHC2 on chromosome 8 and rs111256489 near CD6 on chromosome 11. The kinship model also detected two genome-wide significant SNPs, rs112169253 on chromosome 4 and rs17417920 on chromosome 7, whereas no genome-wide significant SNPs were found by the linear mixed model (LME). Compared to the linear models, more meaningful biological pathways like GABA receptor activation, ion channel transport, neuroactive ligand-receptor interaction, and the renin-angiotensin system were found to be enriched by SNPs from GCC. The GCC model outperformed the linear regression models by identifying more genome-wide significant genetic variants and more meaningful biological pathways related to cognitive function. Moreover, GCC-based GWAS was robust in handling genetically related twin samples, which is an important feature in handling genetic confounding in association studies.

Keywords: cognition, generalized correlation coefficient, GWAS, twins

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2578 Comparison of Crossover Types to Obtain Optimal Queries Using Adaptive Genetic Algorithm

Authors: Wafa’ Alma'Aitah, Khaled Almakadmeh

Abstract:

this study presents an information retrieval system of using genetic algorithm to increase information retrieval efficiency. Using vector space model, information retrieval is based on the similarity measurement between query and documents. Documents with high similarity to query are judge more relevant to the query and should be retrieved first. Using genetic algorithms, each query is represented by a chromosome; these chromosomes are fed into genetic operator process: selection, crossover, and mutation until an optimized query chromosome is obtained for document retrieval. Results show that information retrieval with adaptive crossover probability and single point type crossover and roulette wheel as selection type give the highest recall. The proposed approach is verified using (242) proceedings abstracts collected from the Saudi Arabian national conference.

Keywords: genetic algorithm, information retrieval, optimal queries, crossover

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2577 Brachypodium: A Model Genus to Study Grass Genome Organisation at the Cytomolecular Level

Authors: R. Hasterok, A. Betekhtin, N. Borowska, A. Braszewska-Zalewska, E. Breda, K. Chwialkowska, R. Gorkiewicz, D. Idziak, J. Kwasniewska, M. Kwasniewski, D. Siwinska, A. Wiszynska, E. Wolny

Abstract:

In contrast to animals, the organisation of plant genomes at the cytomolecular level is still relatively poorly studied and understood. However, the Brachypodium genus in general and B. distachyon in particular represent exceptionally good model systems for such study. This is due not only to their highly desirable ‘model’ biological features, such as small nuclear genome, low chromosome number and complex phylogenetic relations, but also to the rapidly and continuously growing repertoire of experimental tools, such as large collections of accessions, WGS information, large insert (BAC) libraries of genomic DNA, etc. Advanced cytomolecular techniques, such as fluorescence in situ hybridisation (FISH) with evermore sophisticated probes, empowered by cutting-edge microscope and digital image acquisition and processing systems, offer unprecedented insight into chromatin organisation at various phases of the cell cycle. A good example is chromosome painting which uses pools of chromosome-specific BAC clones, and enables the tracking of individual chromosomes not only during cell division but also during interphase. This presentation outlines the present status of molecular cytogenetic analyses of plant genome structure, dynamics and evolution using B. distachyon and some of its relatives. The current projects focus on important scientific questions, such as: What mechanisms shape the karyotypes? Is the distribution of individual chromosomes within an interphase nucleus determined? Are there hot spots of structural rearrangement in Brachypodium chromosomes? Which epigenetic processes play a crucial role in B. distachyon embryo development and selective silencing of rRNA genes in Brachypodium allopolyploids? The authors acknowledge financial support from the Polish National Science Centre (grants no. 2012/04/A/NZ3/00572 and 2011/01/B/NZ3/00177)

Keywords: Brachypodium, B. distachyon, chromosome, FISH, molecular cytogenetics, nucleus, plant genome organisation

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2576 Polymorphism of Candidate Genes for Meat Production in Lori Sheep

Authors: Shahram Nanekarania, Majid Goodarzia

Abstract:

Calpastatin and callipyge have been known as one of the candidate genes in meat quality and quantity. Calpastatin gene has been located to chromosome 5 of sheep and callipyge gene has been localized in the telomeric region on ovine chromosome 18. The objective of this study was identification of calpastatin and callipyge genes polymorphism and analysis of genotype structure in population of Lori sheep kept in Iran. Blood samples were taken from 120 Lori sheep breed and genomic DNA was extracted by salting out method. Polymorphism was identified using the PCR-RFLP technique. The PCR products were digested with MspI and FaqI restriction enzymes for calpastatin gene and callipyge gene, respectively. In this population, three patterns were observed and AA, AB, BB genotype have been identified with the 0.32, 0.63, 0.05 frequencies for calpastatin gene. The results obtained for the callipyge gene revealed that only the wild-type allele A was observed, indicating that only genotype AA was present in the population under consideration.

Keywords: polymorphism, calpastatin, callipyge, PCR-RFLP, Lori sheep

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2575 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

Abstract:

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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2574 Premature Departure of Active Women from the Working World: One Year Retrospective Study in the Tunisian Center

Authors: Lamia Bouzgarrou, Amira Omrane, Malika Azzouzi, Asma Kheder, Amira Saadallah, Ilhem Boussarsar, Kamel Rejeb

Abstract:

Introduction: Increasing the women’s labor force participation is a political issue in countries with developed economies and those with low growth prospects. However, in the labor market, women continue to face several obstacles, either for the integration or for the maintenance at work. This study aims to assess the prevalence of premature withdrawal from working life -due to invalidity or medical justified early retirement- among active women in the Tunisian center and to identify its determinants. Material and methods: We conducted a cross-sectional study, over one year, focusing on the agreement for invalidity or early retirement for premature usury of the body- delivered by the medical commission of the National Health Insurance Fund (CNAM) in the central Tunisian district. We exhaustively selected women's files. Data related to Socio-demographic characteristics, professional and medical ones, were collected from the CNAM's administrative and medical files. Results: During the period of one year, 222 women have had an agreement for premature departure of their professional activity. Indeed, 149 women (67.11%) benefit of from invalidity agreement and 20,27% of them from favorable decision for early retirement. The average age was 50 ± 6 years with extremes of 23 and 62 years, and 18.9% of women were under 45 years. Married women accounted for 69.4% and 59.9% of them had at least one dependent child in charge. The average professional seniority in the sector was 23 ± 8 years. The textile-clothing sector was the most affected, with 70.7% of premature departure. Medical reasons for withdrawal from working life were mainly related to neuro-degenerative diseases in 46.8% of cases, rheumatic ones in 35.6% of cases and cardiovascular diseases in 22.1% of them. Psychiatric and endocrine disorders motivated respectively 17.1% and 13.5% of these departures. The evaluation of the sequels induced by these pathologies concluded to an average permanent partial disability equal to 61.4 ± 17.3%. The analytical study concluded that the agreement of disability or early retirement was correlated with the insured ‘age (p = 10-3), the professional seniority (p = 0.003) and the permanent partial incapacity (PPI) rate assessed by the expert physician (p = 0.04). No other social or professional factors were correlated with this decision. Conclusion: Despite many advances in labour law and Tunisian legal text on employability, women still exposed to several social and professional inequalities (payment inequality, precarious work ...). Indeed, women are often pushed to accept working in adverse conditions, thus they are more vulnerable to develop premature wear on the body and being forced to premature departures from the world of work. These premature withdrawals from active life are not only harmful to the concerned women themselves, but also associated with considerable costs for the insurance organism and the society. In order to ensure maintenance at work for women, a political commitment is imperative in the implementation of global prevention strategies and the improvement of working conditions, particularly in our socio-cultural context.

Keywords: Active Women , Early Retirement , Invalidity , Maintenance at Work

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2573 Somatic Hybridization of between Citrus and Murraya paniculata Cells Applied by Electro-Fusion

Authors: Hasan Basri Jumin

Abstract:

Protoplasts isolated from embryogenic callus of Citrus sinensis were electrically used with mesophyll protoplasts isolated from seedless Citrus relatives. Hybrid of somatic embryos plantlets was obtained after 7 months of culture. Somatic hybrid plants were regenerated into normal seedlings and successfully transferred to soil after strictly acclimatization in the glass pot. The somatic hybrid plants were obtained by screening on the basis of chromosomes count. The number of chromosome of root tip counting revealed plantlets tetraploids (2n = 4x = 36) and the other were diploids (2n = 2x = 18) morphologically resembling the mesophyll parent. This somatic hybrid will be utilized as a possible pollen parent for improving the Citrus sinensis. A complete protoplast-to-plant system of somatic hybrid was developed for Citrus sinensis and Citrus relatives which could facilitate the transfer of nuclear and cytoplasmic genes from this species into cultivated Citrus through protoplast fusion.

Keywords: chromosome, Murraya paniculata, protoplast fusion, somatic hybrid, tetrapoliod

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2572 Nursing Experience in Improving Physical and Mental Well-Being of a Patient with Premature Menopause Osteoporosis and Sarcopenia in Nursing-Led Multi-Discipline Care

Authors: Huang Chiung Chiu

Abstract:

This article is about the nursing experience of assisting an outpatient with premature menopause, osteoporosis and sarcopenia through a multi-discipline care model. The nursing period is from September 22nd, 2020, to December 7th, 2020, collecting data through interviews with the patient, observation, and physical assessment. It was found that the main health problems were insufficient nutrition, less physical need, insomnia, and potentially dangerous falls. As an outpatient nurse, the author observed that in recent years, the age group of women with premature menopause, osteoporosis and sarcopenia had shifted downward. Integrated multi-disciplinary interventions were provided upon the initial diagnosis of osteoporosis and sarcopenia. Under the outpatient care setting, the collaborative team works between the doctors, nutritionists, osteoporosis educators, rehabilitates, physical therapists and other specialized teams were applied to provide individualized, integrated multi-disciplinary care. Through empathy and the establishment of attentive care, companionship and trust, we discussed care plans and treatment guidelines with the case, providing accurate, complete disease information and feedback education to strengthen the patient’s knowledge and motivation for exercise. Nursing guidance regarding the dietary nutrition and adjustment of daily routine was provided to increase the self-care ability, improve the health problems of muscle weakness and insomnia, and prevent falls. For patients with postmenopausal osteoporosis and sarcopenia, it is recommended that the nurses coordinate the multi-discipline integrated care model, adjust patients’ lifestyle and diet, and establish a regular exercise plan so that the cases can be evaluated holistically to improve the quality of care and physical and mental comfort.

Keywords: multi-discipline care model, premature menopause, osteoporosis, sarcopenia, insomnia

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2571 A Numerical and Experimental Analysis of the Performance of a Combined Solar Unit for Air Conditioning and Water Desalination

Authors: Zied Guidara, Alexander Morgenstern, Aref Younes Maalej

Abstract:

In this paper, a desiccant solar unit for air conditioning and desalination is presented first. Secondly, a dynamic modelling study of the desiccant wheel is developed. After that, a simulation study and an experimental investigation of the behaviour of desiccant wheel are developed. The experimental investigation is done in the chamber of commerce in Freiburg-Germany. Indeed, the variations of calculated and measured temperatures and specific humidity of dehumidified and rejected air are presented where a good agreement is found when comparing the model predictions with experimental data under the considered range of operating conditions. Finally, the study of the compartments of desalination and water condensation shows that the unit can produce an acceptable quantity of water at the same time of the air conditioning operation.

Keywords: air conditioning, desalination, condensation, design, desiccant wheel

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2570 Building Atmospheric Moisture Diagnostics: Environmental Monitoring and Data Collection

Authors: Paula Lopez-Arce, Hector Altamirano, Dimitrios Rovas, James Berry, Bryan Hindle, Steven Hodgson

Abstract:

Efficient mould remediation and accurate moisture diagnostics leading to condensation and mould growth in dwellings are largely untapped. Number of factors are contributing to the rising trend of excessive moisture in homes mainly linked with modern living, increased levels of occupation and rising fuel costs, as well as making homes more energy efficient. Environmental monitoring by means of data collection though loggers sensors and survey forms has been performed in a range of buildings from different UK regions. Air and surface temperature and relative humidity values of residential areas affected by condensation and/or mould issues were recorded. Additional measurements were taken through different trials changing type, location, and position of loggers. In some instances, IR thermal images and ventilation rates have also been acquired. Results have been interpreted together with environmental key parameters by processing and connecting data from loggers and survey questionnaires, both in buildings with and without moisture issues. Monitoring exercises carried out during Winter and Spring time show the importance of developing and following accurate protocols for guidance to obtain consistent, repeatable and comparable results and to improve the performance of environmental monitoring. A model and a protocol are being developed to build a diagnostic tool with the goal of performing a simple but precise residential atmospheric moisture diagnostics to distinguish the cause entailing condensation and mould generation, i.e., ventilation, insulation or heating systems issue. This research shows the relevance of monitoring and processing environmental data to assign moisture risk levels and determine the origin of condensation or mould when dealing with a building atmospheric moisture excess.

Keywords: environmental monitoring, atmospheric moisture, protocols, mould

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2569 Effectiveness of the Lacey Assessment of Preterm Infants to Predict Neuromotor Outcomes of Premature Babies at 12 Months Corrected Age

Authors: Thanooja Naushad, Meena Natarajan, Tushar Vasant Kulkarni

Abstract:

Background: The Lacey Assessment of Preterm Infants (LAPI) is used in clinical practice to identify premature babies at risk of neuromotor impairments, especially cerebral palsy. This study attempted to find the validity of the Lacey assessment of preterm infants to predict neuromotor outcomes of premature babies at 12 months corrected age and to compare its predictive ability with the brain ultrasound. Methods: This prospective cohort study included 89 preterm infants (45 females and 44 males) born below 35 weeks gestation who were admitted to the neonatal intensive care unit of a government hospital in Dubai. Initial assessment was done using the Lacey assessment after the babies reached 33 weeks postmenstrual age. Follow up assessment on neuromotor outcomes was done at 12 months (± 1 week) corrected age using two standardized outcome measures, i.e., infant neurological international battery and Alberta infant motor scale. Brain ultrasound data were collected retrospectively. Data were statistically analyzed, and the diagnostic accuracy of the Lacey assessment of preterm infants (LAPI) was calculated -when used alone and in combination with the brain ultrasound. Results: On comparison with brain ultrasound, the Lacey assessment showed superior specificity (96% vs. 77%), higher positive predictive value (57% vs. 22%), and higher positive likelihood ratio (18 vs. 3) to predict neuromotor outcomes at one year of age. The sensitivity of Lacey assessment was lower than brain ultrasound (66% vs. 83%), whereas specificity was similar (97% vs. 98%). A combination of Lacey assessment and brain ultrasound results showed higher sensitivity (80%), positive (66%), and negative (98%) predictive values, positive likelihood ratio (24), and test accuracy (95%) than Lacey assessment alone in predicting neurological outcomes. The negative predictive value of the Lacey assessment was similar to that of its combination with brain ultrasound (96%). Conclusion: Results of this study suggest that the Lacey assessment of preterm infants can be used as a supplementary assessment tool for premature babies in the neonatal intensive care unit. Due to its high specificity, Lacey assessment can be used to identify those babies at low risk of abnormal neuromotor outcomes at a later age. When used along with the findings of the brain ultrasound, Lacey assessment has better sensitivity to identify preterm babies at particular risk. These findings have applications in identifying premature babies who may benefit from early intervention services.

Keywords: brain ultrasound, lacey assessment of preterm infants, neuromotor outcomes, preterm

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2568 Cytogenetic Characterization of the VERO Cell Line Based on Comparisons with the Subline; Implication for Authorization and Quality Control of Animal Cell Lines

Authors: Fumio Kasai, Noriko Hirayama, Jorge Pereira, Azusa Ohtani, Masashi Iemura, Malcolm A. Ferguson Smith, Arihiro Kohara

Abstract:

The VERO cell line was established in 1962 from normal tissue of an African green monkey, Chlorocebus aethiops (2n=60), and has been commonly used worldwide for screening for toxins or as a cell substrate for the production of viral vaccines. The VERO genome was sequenced in 2014; however, its cytogenetic features have not been fully characterized as it contains several chromosome abnormalities and different karyotypes coexist in the cell line. In this study, the VERO cell line (JCRB0111) was compared with one of the sublines. In contrast to 59 chromosomes as the modal chromosome number in the VERO cell line, the subline had two peaks of 56 and 58 chromosomes. M-FISH analysis using human probes revealed that the VERO cell line was characterized by a translocation t(2;25) found in all metaphases, which was absent in the subline. Different abnormalities detected only in the subline show that the cell line is heterogeneous, indicating that the subline has the potential to change its genomic characteristics during cell culture. The various alterations in the two independent lineages suggest that genomic changes in both VERO cells can be accounted for by progressive rearrangements during their evolution in culture. Both t(5;X) and t(8;14) observed in all metaphases of the two cell lines might have a key role in VERO cells and could be used as genetic markers to identify VERO cells. The flow karyotype shows distinct differences from normal. Further analysis of sorted abnormal chromosomes may uncover other characteristics of VERO cells. Because of the absence of STR data, cytogenetic data are important in characterizing animal cell lines and can be an indicator of their quality control.

Keywords: VERO, cell culture passage, chromosome rearrangement, heterogeneous cells

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2567 Association of 1565C/T Polymorphism of Integrin Beta-3 (ITGB3) Gene and Increased Risk for Myocardial Infarction in Patients with Premature Coronary Artery Disease among Iranian Population

Authors: Mehrdad Sheikhvatan, Mohammad Ali Boroumand, Mehrdad Behmanesh, Shayan Ziaee

Abstract:

Contradictory results have been obtained regarding the role of integrin, beta 3 (ITGB3) gene polymorphisms in occurrence of acute myocardial infarction (MI) in patients with coronary artery disease (CAD). Hence, we aimed to assess the association between 1565C/T polymorphism of ITGB3 gene and increased risk for acute MI in patients who suffered premature CAD in Iranian population. Our prospective study included 1000 patients (492 men and 508 women aged 21 to 55 years) referred to Tehran Heart center during a period of four years from 2008 to 2011 with the final diagnosis of premature CAD and classified into two groups with history of MI (n = 461) and without of MI (n = 539). The polymorphism variants were determined by PCR-RFLP technique by entering 10% of randomized samples and then genotyping of the polymorphism was also conducted by High Resolution Melting (HRM) method. Among study samples, 640 were followed with a median follow-up time 45.74 months for determining association of long-term major adverse cardiac events (MACE) and genotypes of polymorphisms. There was no significant difference in the frequency of 1565C/T polymorphism between the MI and non-MI groups. The frequency of wild genotype was 69.2% and 72.2%, the frequency of homozygous genotype was 21.3% and 18.4%, and the frequency of mutant genotype was 9.5% and 9.5%, respectively (p=0.505). Results were also similar when adjusted for covariates in a multivariate logistic regression model. No significant difference was also found in total-MACE free survival rate between the patients with different genotypes of 1565C/T polymorphism in both MI and non-MI group. The carriage of the 1565C/T polymorphism of ITGB3 gene seems unlikely to be a significant risk factor for the development of MI in Iranian patients with premature CAD. The presence of this ITGB3 gene polymorphism may not also predict long-term cardiac events.

Keywords: coronary artery disease, myocardial infarction, gene, integrin, beta 3, polymorphism

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2566 Temperature Distribution Control for Baby Incubator System Using Arduino AT Mega 2560

Authors: W. Widhiada, D. N. K. P. Negara, P. A. Suryawan

Abstract:

The technological advances in the field of health to be very important, especially on the safety of the baby. In this case a lot of premature infants death caused by poorly managed health facilities. Mostly the death of premature baby caused by bacteria since the temperature around the baby is not normal. Related to this, the incubator equipment needs to be important, especially in how to control the temperature in incubator. On/Off controls is used to regulate the temperature distribution in the incubator so that the desired temperature is 36 °C to stay awake and stable. The authors have been observed and analyzed the data to determine the temperature distribution in the incubator using program of MATLAB/Simulink. The output temperature distribution is obtained at 36 °C in 400 seconds using an Arduino AT 2560. This incubator is able to maintain an ambient temperature and maintain the baby's body temperature within normal limits and keep the moisture in the air in accordance with the limit values required in infant incubator.

Keywords: on/off control, distribution temperature, Arduino AT 2560, baby incubator

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2565 Pregnancy Rate and Outcomes after Uterine Fibroid Embolization Single Centre Experience in the Middle East from the United Arab Emirates at Alain Hospital

Authors: Jamal Alkoteesh, Mohammed Zeki, Mouza Alnaqbi

Abstract:

Objective: To evaluate pregnancy outcomes, complications and neonatal outcomes in women who had previously undergone uterine arterial embolization. Design: Retrospective study. In this study, most women opted for UFE as a fertility treatment after failure of myomectomy or in vitro fertilization, or because hysterectomy was the only suggested option. Background. Myomectomy is the standard approach in patients with fibroids desiring a future pregnancy. However, myomectomy may be difficult in cases of numerous interstitial and/or submucous fibroids.In these cases, UFE has the advantage of embolizing all fibroids in one procedure. This procedure is an accepted nonsurgical treatment for symptomatic uterine fibroids. Study Methods: A retrospective study of 210 patients treated with UFE for symptomatic uterine fibroids between 2011-2016 was performed. UFE was performed using ((PVA; Embozen, Beadblock) (500-900 µm in diameter). Pregnancies were identified using screening questionnaires and the study database. Of the 210 patients who received UFE treatment, 35 women younger than the age of 40 wanted to conceive and had been unable. All women in our study were advised to wait six months or more after UFE before attempting to become pregnant, of which the reported time range before attempting to conceive was seven to 33 months (average 20 months). RESULTS: In a retrospective chart review of patients younger than the age of 40 (35 patients,18 patients reported 23 pregnancies, of which five were miscarriages. Two more pregnancies were complicated by premature labor. Of the 23 pregnancies, 16 were normal full-term pregnancies, 15 women had conceived once, and four had become pregnant twice. The remaining patients did not conceive. In the study, there was no reported intrauterine growth retardation in the prenatal period, fetal distress during labor, or problems related to uterine integrity. Two patients reported minor problems during pregnancy that were borderline oligohydramnios and low-lying placenta. In the cohort of women who did conceive, overall, 16 out of 18 births proceeded normally without any complications (86%). Eight women delivered by cesarean section, and 10 women had normal vaginal delivery. In this study of 210 women, UFE had a fertility rate of 47%. Our group of 23 pregnancies was small, but did confirm successful pregnancy after UFE. The 45.7% pregnancy rate in women below the age of 40 years old who completed a term pregnancy compares favorably with women who underwent myomectomy via other method. Of the women in the cohort who did conceive, subsequent birth proceeded normally (86%). Conclusion: Pregnancy after UFE is well-documented. The risks of infertility following embolization, premature menopause, and hysterectomy are small, as is the radiation exposure during embolization. Fertility rates appear similar to patients undergoing myomectomy.UFE should not be contraindicated in patients who want to conceive and they should be able to choose between surgical options and UFE.

Keywords: fibroid, pregnancy, therapeutic embolization, uterine artery

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2564 Dependence of Premature Births from Periodontal Status of Pregnant Women

Authors: Sonila Robo, Ilma Robo, Eduart Kapaj, Saimir Heta

Abstract:

Background: Early birth is 37 weeks or less, pregnancy maturity! Clinically active presence, or positive culture of vaginal secretions, means excessive production of cytokines and prostaglandins also encountered in amniotic fluid. Bacterial vaginosis appears with their clinical outbreak in a combination of bacteria. Some of these bacteria are basic members in the creation of bacterial plaque. Objective: The purpose of this study is to find the link between the presence of specific bacteria in the mouth, bacterial vaginosis as one of the causes of premature birth, and the latter. Methods: The study was applied to 30 pregnant women in the burden pathology ward at Fier maternity, divided into two groups. The first group consisting of 20 women in the 2-month period, August-September. The number of women in the ward was 10 days maximum! All women were treated with cortisone and serum IV, magnesium sulphate, antibiotic prophylaxis! Results: 55% of women were under the age of 25 and 45% of women were over the age of 25. The age effect is mentioned for classifying the diseases that causes Actinomyces. Under the age of 25, a teenager and a 25-year-old are chronically ill. The final index was G2! All females were positive for the presence of salicylic acid in saliva and vaginal secretions. Conclusions:Premature birth is a complex process with some gynecological reasons, but in high percentage of cases there is coverage with the presence of infection by Actinomyces Actinomycetemcomitans in the oral cavity, which depending on the age causes two different types of periodontitis with special characteristics.

Keywords: early birth, periodontal status, bacterial vaginosis, actinomyces actinomycetemcomitans

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2563 Simplified Analysis Procedure for Seismic Evaluation of Tall Building at Structure and Component Level

Authors: Tahir Mehmood, Pennung Warnitchai

Abstract:

Simplified static analysis procedures such Nonlinear Static Procedure (NSP) are gaining popularity for the seismic evaluation of buildings. However, these simplified procedures accounts only for the seismic responses of the fundamental vibration mode of the structure. Some other procedures which can take into account the higher modes of vibration, lack in accuracy to determine the component responses. Hence, such procedures are not suitable for evaluating the structures where many vibration modes may participate significantly or where component responses are needed to be evaluated. Moreover, these procedures were found to either computationally expensive or tedious to obtain individual component responses. In this paper, a simplified but accurate procedure is studied. It is called the Uncoupled Modal Response History Analysis (UMRHA) procedure. In this procedure, the nonlinear response of each vibration mode is first computed, and they are later on combined into the total response of the structure. The responses of four tall buildings are computed by this simplified UMRHA procedure and compared with those obtained from the NLRHA procedure. The comparison shows that the UMRHA procedure is able to accurately compute the global responses, i.e., story shears and story overturning moments, floor accelerations and inter-story drifts as well as the component level responses of these tall buildings with heights varying from 20 to 44 stories. The required computational effort is also extremely low compared to that of the Nonlinear Response History Analysis (NLRHA) procedure.

Keywords: higher mode effects, seismic evaluation procedure, tall buildings, component responses

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2562 Condensation Heat Transfer and Pressure Drop of R-134a Flowing inside Dimpled Tubes

Authors: Kanit Aroonrat, Somchai Wongwises

Abstract:

A heat exchanger is one of the vital parts in a wide variety of applications. The tube with surface modification is generally referred to as an enhanced tube. With this, the thermal performance of the heat exchanger is improved. A dimpled tube is one of many kinds of enhanced tube. The heat transfer and pressure drop of two-phase flow inside dimpled tubes have received little attention in the literature, despite of having an important role in the development of refrigeration and air conditioning systems. As a result, the main aim of this study is to investigate the condensation heat transfer and pressure drop of refrigerant-134a flowing inside dimpled tubes. The test section is a counter-flow double-tube heat exchanger, which the refrigerant flows in the inner tube and water flows in the annulus. The inner tubes are one smooth tube and three dimpled tubes with different helical pitches. All test tubes are made from copper with an inside diameter of 8.1 mm and length of 1500 mm. The experiments are conducted over mass fluxes ranging from 300 to 500 kg/m²s, heat flux ranging from 10 to 20 kW/m², and condensing temperature ranging from 40 to 50 ˚C. The results show that all dimpled tubes provide higher heat transfer coefficient and frictional pressure drop compared to the smooth tube. In addition, the heat transfer coefficient and frictional pressure drop increase with decreasing of helical pitch. It can be observed that the dimpled tube with lowest helical pitch yields the heat transfer enhancement in the range of 60-89% with the frictional pressure drop increase of 289-674% in comparison to the smooth tube.

Keywords: condensation, dimpled tube, heat transfer, pressure drop

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2561 Identification of Quantitative Trait Loci Conferring Downy Mildew Resistance in Cucumis sativus

Authors: Pawinee Innark, Hudsaya Punyanitikul, Chanuluk Khanobdee, Chatchawan Jantasuriyarat, Sompid Samipak

Abstract:

One of the most devastating diseases in cucumber is downy mildew caused by the fungus Pseudoperonospora cubensis. To enable the use of marker-assisted breeding for resistance cultivars, sixty six microsatellite markers were used to map (quantitative trait loci) QTLs for DM resistance. Total of 315 F2 population from the cross between DM-resistant inbred line CSL0067 and susceptible CSL0139 were evaluated for downy mildew resistance in cotyledon, first and second true leaf at 7, 10, and 14 day after inoculation. The QTL analysis revealed that the downy mildew resistant genes were controlled by multiple recessive genes. From eight linkage groups (LG 1.1, 1.2, 2, 3, 4, 5.1, 5.2 and 6), fourteen QTL positions were detected on 4 linkage groups (LG 1.1, 2, 5.1 and 6) with the log of odd scores ranged from 3.538 to 9.165. Among them, Cot7_5.1_2 and Cot10_5.1 had major-effect QTL with the R2 values of 10.9 and 12.5%, respectively. The flanking markers for Cot7_5.1_2 were SSR19172 - SSR07531 markers and for Cot10_5.1 were SSR03943 - SSR00772. Besides QTLs on chromosome 1, 5 and 6 that were previously reported, this study also revealed a QTL for DM resistance on chromosome 2 that can be used as a new source in cucumber breeding program.

Keywords: cucumber, DNA marker, downy mildew, QTL

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2560 Isolation and Expansion of Human Periosteum-Derived Mesenchymal Stem Cells in Defined Serum-Free Culture Medium

Authors: Ainur Mukhambetova, Miras Karzhauov, Vyacheslav Ogay

Abstract:

Introduction: Mesenchymal stem cells (MSCs) have the capacity to be differentiated into several cell lineages and are a promising source for cell therapy and tissue engineering. However, currently most MSCs culturing protocols use media supplemented with fetal bovine serum (FBS), which limits their application in clinic due to the possibility of zoonotic infections, contamination and immunological reactions. Consequently, formulating effective serum free culture medium becomes one of the important problems in contemporary cell biotechnology. Objectives: The aim of this study was to define an optimal serum-free medium for culturing of periosteum derived MSCs. Materials and methods: The MSCs were extracted from human periosteum and transferred to the culture flasks pretreated with CELLstart™. Immunophenotypic characterization, proliferation and in vitro differentiation of cells grown on STEM PRO® MSC SFM were compared to the cells cultured in the standard FBS containing media. Chromosome analysis and flow cytometry were also performed. Results: We have shown that cells were grown on STEM PRO® MSC SFM retained all the morphological, immunophenotypic (CD73, CD90, CD105, vimentin and Stro-1) and cell differentiation characteristics specific to MSCs. Chromosome analysis indicated no anomalies in the chromosome structure. Flow cytometry showed a high expression of cell adhesion molecules CD44 (98,8%), CD90 (97,4%), CD105 (99,1%). In addition, we have shown that cell is grown on STEM PRO® MSC SFM have higher proliferation capacity compared to cell expanded on standard FBS containing the medium. Conclusion: We have shown that STEM PRO® MSC SFM is optimal for culturing periosteum derived human MSCs which subsequently can be safely used in cell therapy.

Keywords: cell technologies, periosteum-derived MSCs, regenerative medicine, serum-free medium

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2559 An Exploratory Case Study of the Interference of Erotic Transference in the Longevity of Psychoanalytic Treatment

Authors: Mehravar Javid, Rohma Hassan, J. DeSilva

Abstract:

In this exploratory case study, a 37-year-old male patient who previously terminated treatment after four months of therapy with a different therapist begins anew with a 38-year-old female therapist and undergoes a similar cycle of premature termination, with added discourse caused by erotic transference. Process notes and records of the therapy treatment indicate that during the short course of treatment, the patient explored his difficulties navigating personal relationships, both current and past, and his difficulties coping with hypochondriasis. The therapist becomes tasked with not only navigating the patient’s inner conflict but also how she relates to the patient in the countertransference process while maintaining professional boundaries. This includes empathizing with the patient while also experiencing discomfort in the erotic transference from a professional standpoint. When the patient terminates once more, the therapist reflects on the possible reasons for termination. This includes the patient’s difficulties with tolerating interpretations, which cause him to blame himself for past events. These interpretations were also very frequent, contributing to the emotional burden the patient experienced. The therapist reflected on the use of interpretation versus exploration of the patient’s feelings and how exploring his feelings, including his feelings towards her, would have allowed for an opportunity to explore the emotions that troubled him more deeply. This includes exploring the patient’s anger and fear, which stem from unresolved conflicts from his childhood. Moreover, the erotic transference served as an enactment of previous experiences in which the patient feared losing what he loved, leading him to opt for premature termination instead of losing his ability to control the relationship and experience loss.

Keywords: countertransference, erotic transference, premature termination, therapist-client boundaries, transference

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2558 Clinical Audit of Selected Nephrology Nursing Procedures Performed in Nephrology Unit of AIIMS with a View to Develop Nephrology Nursing Procedure Protocol

Authors: Mamta Thakur, Dr. Shashi Mawar, Ms. Levis Murry, Dr. D.k.sharma

Abstract:

Aim: The aim of this study is to develop nephrology nursing procedure protocol after clinical audit of current nephrology nursing practices. Materials and methods: This descriptive observational study was conducted on 40 nurses who were working in Nephrology Department of AIIMS, New Delhi to observe their current practices to assess the existing gaps in the practice. The nurses were enrolled through total enumerative sampling. Sociodemographic profile of nurses and clinical profile for site of procedure was collected. Observation checklist was formed on the basis of standard nursing practices, which included 7 dimensions for hemodialysis procedure and 3 dimensions for procedure of assisting renal biopsy. Based on the gaps identified, nephrology nursing procedure protocol will be developed. Nurses were observed during two shifts, and each nurse was observed once. Scoring of items were done in each dimension, and for acceptable practices, nurses have to score ≥80% in each dimension. Results: Data was analyzed using descriptive statistics. Majority of nurses (73.7%) in nephrology ward and (80.9%) in hemodialysis unit have not undergone any special training in nephrology. Most of nurses (80.9%) followed the acceptable nursing practices for procedure of connection for hemodialysis. None of nurses followed the acceptable level (≥80%) of nursing practices for the procedure of predialysis assessment, the procedure for site preparation, during dialysis assessment and post dialysis assessment. None (100%) showed the acceptable level of nursing practices for all the dimensions of assisting renal biopsy procedure. Nephrology nursing procedure protocol was developed by researcher following a rigorous process, and this will reduce the gaps in the nursing practice. Conclusion: Clinical audit found that there were gaps in the existing nursing practices compared to the standardised nursing practices for procedure of hemodialysis and assisting renal biopsy, and these gaps have been addressed by the development of the protocol.

Keywords: nursing practice, nephrology nursing procedure, nursing protocol, renal biopsy, hemodialysis

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2557 An Improved Heat Transfer Prediction Model for Film Condensation inside a Tube with Interphacial Shear Effect

Authors: V. G. Rifert, V. V. Gorin, V. V. Sereda, V. V. Treputnev

Abstract:

The analysis of heat transfer design methods in condensing inside plain tubes under existing influence of shear stress is presented in this paper. The existing discrepancy in more than 30-50% between rating heat transfer coefficients and experimental data has been noted. The analysis of existing theoretical and semi-empirical methods of heat transfer prediction is given. The influence of a precise definition concerning boundaries of phase flow (it is especially important in condensing inside horizontal tubes), shear stress (friction coefficient) and heat flux on design of heat transfer is shown. The substantiation of boundary conditions of the values of parameters, influencing accuracy of rated relationships, is given. More correct relationships for heat transfer prediction, which showed good convergence with experiments made by different authors, are substantiated in this work.

Keywords: film condensation, heat transfer, plain tube, shear stress

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2556 Obtaining Triploid Plants of Sprekelia formosissima by Artificial Hybridization

Authors: Jose Manuel Rodriguez-Dominguez, Rodrigo Barba-Gonzalez, Ernesto Tapia-Campos

Abstract:

Sprekelia formosissima (L.) Herbert is a bulbous ornamental species of the monocotyledonous Amaryllidaceae family, and it is a perennial, herbaceous monotypic plant commonly known as ‘Aztec Lily’ or ‘Jacobean Lily’; it is distributed through Mexico and Guatemala. Its scarlet flowers with curved petals have made it an exceptional ornamental pot plant. Cytogenetic studies in this species have shown differences in chromosome number (2n=60, 120, 150, 180) with a basic number x=30. Different reports have shown a variable ploidy level (diploid, tetraploid, pentaploid and hexaploid); however, triploid plants have not been reported. In this work, triploid plants of S. formosissima were obtained by crossing tetraploid (2n=4x=120) with diploid (2n=2x=60) genotypes of this species; the seeds obtained from the crosses were placed in pots with a moist substrate made of Peat Moss: Vermiculite (7:3) for germination. Root tips were collected, and metaphasic chromosome preparations were performed. For chromosome counting, the best five metaphases obtained were photographed with a Leica DMRA2 microscope (Leica Microsystems, Germany) microscopy coupled to an Evolution QEI camera under phase contrast (Media-Cybernetics). Chromosomes counting in root-tip cells showed that 100% of the plants were triploid (2n=3x=90). Although tetraploid or pentaploid plants of S. formosissima are highly appreciated, they usually have lower growth rates than related diploid ones. For this reason, it is important to obtain triploid plants, which have advantages such as higher growth rates than tetraploid and pentaploid, larger flowers than those of the diploid plants and they are expected to not be able to produce seeds because their gametes are aneuploids. Furthermore, triploids may become very important for genomic research in the future, creating opportunities for discovering and monitoring genomic and transcriptomic changes in unbalanced genomes, hence the importance of this work.

Keywords: Amaryllidaceae, cytogenetics, ornamental, ploidy level

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2555 Synthesis and PASS-Assisted Evaluation of New Heterocyclic Compounds Containing Hydroquinoline Scaffold

Authors: Gizachew Mulugeta Manahelohe, Khidmet Safarovich Shikhaliev

Abstract:

There has been a significant surge in interest in the synthesis of heterocyclic compounds that contain hydroquinoline fragments. This surge can be attributed to the broad range of pharmaceutical and industrial applications that these compounds possess. The present study provides a comprehensive account of the synthesis of both linear and fused heterocyclic systems that incorporate hydroquinoline fragments. Furthermore, the pharmacological activity spectra of the synthesized compounds were assessed using the in silico method, employing the prediction of activity spectra of substances (PASS) program. Hydroquinoline nitriles 7 and 8 were prepared through the reaction of the corresponding hydroquinolinecarbaldehyde using a hydroxylammonium chloride/pyridine/toluene system and iodine in aqueous ammonia under ambient conditions, respectively. 2-Phenyl-1,3-oxazol-5(4H)-ones 9a,b and 10a,b were synthesized via the condensation of compounds 5a,b and 6a,b with hippuric acid in acetic acid in 30–60% yield. When activated, 7-methylazolopyrimidines 11a and b were reacted with N-alkyl-2,2,4-trimethyl-1,2,3,4-tetrahydroquinoline-6-carbaldehydes 6a and b, and triazolo/pyrazolo[1,5-a]pyrimidin-6-yl carboxylic acids 12a and b were obtained in 60–70% yield. The condensation of 7-hydroxy-1,2,3,4-tetramethyl-1,2-dihydroquinoline 3 h with dimethylacetylenedicarboxylate (DMAD) and ethyl acetoacetate afforded cyclic products 16 and 17, respectively. The condensation reaction of 6-formyl-7-hydroxy-1,2,2,4-tetramethyl-1,2-dihydroquinoline 5e with methylene-active compounds such as ethyl cyanoacetate/dimethyl-3-oxopentanedioate/ethyl acetoacetate/diethylmalonate/Meldrum’s acid afforded 3-substituted coumarins containing dihydroquinolines 19 and 21. Pentacyclic coumarin 22 was obtained via the random condensation of malononitrile with 5e in the presence of a catalytic amount of piperidine in ethanol. The biological activities of the synthesized compounds were assessed using the PASS program. Based on the prognosis, compounds 13a, b, and 14 exhibited a high likelihood of being active as inhibitors of gluconate 2-dehydrogenase, as well as possessing antiallergic, antiasthmatic, and antiarthritic properties, with a probability value (Pa) ranging from 0.849 to 0.870. Furthermore, it was discovered that hydroquinoline carbonitriles 7 and 8 tended to act as effective progesterone antagonists and displayed antiallergic, antiasthmatic, and antiarthritic effects (Pa = 0.276–0.827). Among the hydroquinolines containing coumarin moieties, compounds 17, 19a, and 19c were predicted to be potent progesterone antagonists, with Pa values of 0.710, 0.630, and 0.615, respectively.

Keywords: heterocyclic compounds, hydroquinoline, vilsmeier-haach formylation, in-silico

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2554 The Preparation of 2H-Indazolo [2, 1-b] Phthalazinetriones by One-Pot 4,4ʹ-Bipyridinium Dichloride Ordered Mesoporous Silica

Authors: Aigin Bashti

Abstract:

Preparation of multicomponent reactions (MCRs) via a simple one-pot strategy is considered a novel procedure which has attracted a lot of interest from organic and medicinal chemists. Due to the great importance of phthalazide triones, it was decided to introduce a novel and cost-effective green procedure for the preparation of these derivatives. In this methodology, an efficient 4,4ʹ-Bipyridinium Dichloride Ordered Mesoporous Silica functionalized catalyst (BP-SBA-15) was utilized. The catalyst was characterized by X-ray diffraction analysis (XRD), field emission scanning electron microscopy (FESEM), transmission electron microscopy (TEM), thermo-gravimetric analysis (TGA), and Fourier-transform infrared spectroscopy (FT-IR) analysis. In conclusion, it should be mentioned that this methodology has some advantages, including short reaction time, high yield of the products, recyclable catalyst, green procedure, and facile work-up procedure. The catalyst was successfully utilized for the one-pot preparation of various phthalazinetrione derivatives.

Keywords: dimedone, green procedure, multicomponent reactions, phthalhydrazide

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2553 Seismic Retrofit of Rectangular Columns Using Fiber Reinforced Polymers

Authors: E. L. Elghazy, A. M. Sanad, M. G. Ghoneim

Abstract:

Over the past two decades research has shown that fiber reinforced polymers can be efficiently, economically and safely used for strengthening and rehabilitation of reinforced concrete (RC) structures. Designing FRP confined concrete columns requires reliable analytical tools that predict the level of performance and ductility enhancement. A numerical procedure is developed aiming at determining the type and thickness of FRP jacket needed to achieve a certain level of ductility enhancement. The procedure starts with defining the stress strain curve, which is used to obtain moment curvature relationship then displacement ductility ratio of reinforced concrete cross-sections subjected to bending moment and axial force. Three sets of published experimental tests were used to validate the numerical procedure. Comparisons between predicted results obtained by using the proposed procedure and actual results of experimental tests proved the reliability of the proposed procedure.

Keywords: columns, confinement, ductility, FRP, numerical

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2552 Growth Performance and Critical Supersaturation of Heterogeneous Condensation for High Concentration of Insoluble Sub-Micron Particles

Authors: Jie Yin, Jun Zhang

Abstract:

Measuring the growth performance and critical supersaturation of particle group have a high reference value for constructing a supersaturated water vapor environment that can improve the removal efficiency of the high-concentration particle group. The critical supersaturation and the variation of the growth performance with supersaturation for high-concentration particles were measured by a flow cloud chamber. Findings suggest that the influence of particle concentration on the growth performance will reduce with the increase of supersaturation. Reducing residence time and increasing particle concentration have similar effects on the growth performance of the high-concentration particle group. Increasing particle concentration and shortening residence time will increase the critical supersaturation of the particle group. The critical supersaturation required to activate a high-concentration particle group is lower than that of the single-particle when the minimum particle size in the particle group is the same as that of a single particle.

Keywords: sub-micron particles, heterogeneous condensation, critical supersaturation, nucleation

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2551 Assignment of Legal Personality to Robots: A Premature Meditation

Authors: Solomon Okorley

Abstract:

With the emergence of artificial intelligence, a proposition that has been made with increasing conviction is the need to assign legal personhood to robots. A major problem that arises when dealing with robots is the issue of liability: who do it hold liable when a robot causes harm? The suggestion to assign legal personality to robots has been made to aid in the assignment of liability. This paper contends that it is premature to assign legal personhood to robots. The paper employed the doctrinal and comparative research methodology. The paper first discusses the various theories that underpin the granting of legal personhood to juridical personalities to ascertain whether these theories can aid in the proposition to assign legal personhood to robots. These theories include fiction theory, aggregate theory, realist theory, and organism theory. Except for the aggregate theory, the fiction theory, the realist theory and the organism theory provide a good foundation to the proposal for legal personhood to be assigned to robots. The paper considers whether robots should be assigned legal personhood from a jurisprudential approach. The legal positivists assert that no metaphysical presuppositions are needed to determine who could be a legal person: the sole deciding factor is the engagement in legal relations and this prerequisite could be fulfilled by robots. However, rationalists, religionists and naturalists assert that the satisfaction of the metaphysical criteria is the basis of legal personality and since robots do not possess this feature, they cannot be assigned legal personhood. This differing perspective shows that the jurisprudential school of thought to which one belongs influences the decision whether to assign legal personhood to robots. The paper makes arguments for and against the assigning of legal personhood to robots. Assigning legal personhood to robots is necessary for the assigning of liability; and since robots are independent in their operation, they should be assigned legal personhood. However, it is argued that the degree of autonomy is insufficient. Robots do not understand legal obligations; they do not have a will of their own and the purported autonomy that they possess is an ‘imputed autonomy’. A crucial question to be asked is ‘whether it is desirable to confer legal personhood on robots’ and not ‘whether legal personhood should be assigned to robots’. This is due to the subjective nature of the responses to such a question as well as the peculiarities of countries in response to this question. The main argument in support of assigning legal personhood to robots is to aid in assigning liability. However, it is argued conferring legal personhood on robots is not the only way to deal with liability issues. Since any of the stakeholders involved with the robot system can be held liable for an accident, it is not desirable to assign legal personhood to robot. It is forecasted that in the epoch of strong artificial intelligence, granting robots legal personhood is plausible; however, in the current era, it is premature.

Keywords: autonomy, legal personhood, premature, jurisprudential

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2550 Understanding Different Facets of Chromosome Abnormalities: A 17-year Cytogenetic Study and Indian Perspectives

Authors: Lakshmi Rao Kandukuri, Mamata Deenadayal, Suma Prasad, Bipin Sethi, Srinadh Buragadda, Lalji Singh

Abstract:

Worldwide; at least 7.6 million children are born annually with severe genetic or congenital malformations and among them 90% of these are born in mid and low-income countries. Precise prevalence data are difficult to collect, especially in developing countries, owing to the great diversity of conditions and also because many cases remain undiagnosed. The genetic and congenital disorder is the second most common cause of infant and childhood mortality and occurs with a prevalence of 25-60 per 1000 births. The higher prevalence of genetic diseases in a particular community may, however, be due to some social or cultural factors. Such factors include the tradition of consanguineous marriage, which results in a higher rate of autosomal recessive conditions including congenital malformations, stillbirths, or mental retardation. Genetic diseases can vary in severity, from being fatal before birth to requiring continuous management; their onset covers all life stages from infancy to old age. Those presenting at birth are particularly burdensome and may cause early death or life-long chronic morbidity. Genetic testing for several genetic diseases identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder. Several hundred genetic tests are currently in use and more are being developed. Chromosomal abnormalities are the major cause of human suffering, which are implicated in mental retardation, congenital malformations, dysmorphic features, primary and secondary amenorrhea, reproductive wastage, infertility neoplastic diseases. Cytogenetic evaluation of patients is helpful in the counselling and management of affected individuals and families. We present here especially chromosomal abnormalities which form a major part of genetic disease burden in India. Different programmes on chromosome research and human reproductive genetics primarily relate to infertility since this is a major public health problem in our country, affecting 10-15 percent of couples. Prenatal diagnosis of chromosomal abnormalities in high-risk pregnancies helps in detecting chromosomally abnormal foetuses. Such couples are counselled regarding the continuation of pregnancy. In addition to the basic research, the team is providing chromosome diagnostic services that include conventional and advanced techniques for identifying various genetic defects. Other than routine chromosome diagnosis for infertility, also include patients with short stature, hypogonadism, undescended testis, microcephaly, delayed developmental milestones, familial, and isolated mental retardation, and cerebral palsy. Thus, chromosome diagnostics has found its applicability not only in disease prevention and management but also in guiding the clinicians in certain aspects of treatment. It would be appropriate to affirm that chromosomes are the images of life and they unequivocally mirror the states of human health. The importance of genetic counseling is increasing with the advancement in the field of genetics. The genetic counseling can help families to cope with emotional, psychological, and medical consequences of genetic diseases.

Keywords: India, chromosome abnormalities, genetic disorders, cytogenetic study

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