Search results for: genetic disorders

Authors: Ramona Moldovan, Doina Cosman, Sebastian Moldovan, Radu Popp, Victor Pop

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MENTALICA is a project aimed at developing and evaluating a platform that can assist individuals diagnosed with severe mental disorders and their families in managing the consequences associated with severe mental disorders, recurrence risks, prevention strategies and treatment options. MENTALICA is a platform based on guidance issued by some of the most prominent scientific organizations in the world. In order to personalize the information provided, the program explores details about the personal and family history of mental disorders. MENTALICA summarizes the answers and gives respondents a personal assessment. This includes personalized information and support about schizophrenia, bipolar disorder and schizoaffective disorder. MENTALICA includes several modules: Family history tools, Risk assessment tools and Risk factor sheets, Practical guides for patients, Practical guides for families, Guidelines for clinicians. Currently, there are no available guidelines for genetic counselling for mental disorders. Respondents can print out their reports and discuss them with family members or their doctors. We will briefly present the current status of MENTALICA and its implications for patients, professionals and the community.

Keywords: genetic counseling, mental disorders, platform

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Authors: Tareg Belali, Mosleh Abomughaid, Muhanad Alhujaily

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HNF4a is one of the steroid hormone receptor family of transcription factors with roles in the development of the liver and the regulation of several critical metabolic pathways, such as glycolysis, drug metabolism, and apolipoproteins and blood coagulation. The transcriptional potency of HNF4a is well known due to its involvement in diabetes and other metabolic diseases. However, recently HNF4a has been discovered to be closely associated with several haematological disorders, mainly because of genetic mutations, drugs, and hepatic disorders. We review HNF4a structure and function and its role in haematological disorders. We discuss possible good therapies that are based on targeting HNF4a.

Keywords: hepatocyte nuclear factor 4 alpha, HNF4a nuclear receptor, steroid hormone receptor family of transcription factors, hematological disorders

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Authors: Matthew T. Wilson

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This paper covers a selection of research utilizing grammar-based genetic programming, and illustrates how context-free grammar can be used to constrain genetic programming. It focuses heavily on grammatical evolution, one of the most popular variants of grammar-based genetic programming, and the way its operators and terminals are specialized and modified from those in genetic programming. A variety of implementations of grammatical evolution for general use are covered, as well as research each focused on using grammatical evolution or grammar-based genetic programming on a single application, or to solve a specific problem, including some of the classically considered genetic programming problems, such as the Santa Fe Trail.

Keywords: context-free grammar, genetic algorithms, genetic programming, grammatical evolution

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Authors: Agi Sunday

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A descriptive analysis of reported cases of sickle cell disease and the level of awareness about genetic counselling in 30 hospitals were carried out. Additionally, 150 individuals between ages 16-45 were randomly selected for evaluation of genetic counselling awareness. The main tools for this study were questionnaires which were taken to hospitals, and individuals completed the others. The numbers of reported cases of sickle cell disease recorded in private, public and teaching hospitals were 14 and 57; 143 and 89; 272 and 57 for the periods of 1995-2000 and 2001-2005, respectively. A general informal genetic counselling took place mostly in the hospitals visited. 122 (86%) individuals had the knowledge of genetic disease and only 43 (30.3%) individuals have been exposed to genetic counselling. 64% of individuals agreed that genetic counselling would help in the prevention of genetic disease.

Keywords: sickle disease, genetic counseling, genetic testing, advocacy

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Authors: Wafa Al Jabri

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Background: In Middle Eastern Islamic Countries (MEICs), there is a high prevalence of genetic blood disorders (GBDs), particularly sickle cell disease and thalassemia. The GBDs are considered a major public health concern, especially with the increase in affected populations along with the associated psychological, social, and financial cost of management. Despite the availability of premarital screening services (PSS) that aim to identify the asymptomatic carriers of GBDs and provide genetic counseling to couples in order toreduce the prevalence of these diseases; yet, the success rate of PSS is very low due to religious and socio-cultural concerns. Purpose: This paper aims to highlight the factors that affect the success of PSS in MEICs. Methods: A literature review of articles located in CINAHL, PubMed, SCOPUS, and MedLinewas carried out using the following terms: “premarital screening,” “success,” “effectiveness,” and “ genetic blood disorders.” Second, a hand search of the reference lists and Google searches were conducted to find studies that did not exist in the primary database searches. Only studies which are conducted in MEICs countries and published in the last five years were included. Studies that were not published in English were excluded. Results: Fourteen articles were included in the review. The results showed that PSS in most of the MEICs was successful in achieving its objective of identifying high-risk marriages; however, the service failed to meetitsultimate goal of reducing the prevalence of GBDs. Various factors seem to hinder the success of PSS, including poor public awareness, late timing of the screening, culture and social stigma, religious beliefs, availability of prenatal diagnosis and therapeutic abortion, emotional factors, and availability of genetic counseling services. However, poor public awareness, late timing of the screening, and unavailability of adequate counseling services were the most common barriers identified. Conclusion: Overcoming the identified barriers by providing effective health education programs, offering the screening test to young adults at an earlier stage, and tailoring the genetic counseling would be crucial steps to provide a framework for an effective PSS in MEICs.

Keywords: premarital screening, success, effectiveness, and genetic blood disorders

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Authors: Amy Gooden, Meshandren Naidoo

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Genetic research is not confined to a particular jurisdiction. Using direct-to-consumer genetic testing (DTC-GT) as an example, this research assesses the status of data sharing into and out of South Africa (SA). While SA laws cover the sending of genetic data out of SA, prohibiting such transfer unless a legal ground exists, the position where genetic data comes into the country depends on the laws of the country from where it is sent – making the legal position less clear.

Keywords: cross-border, data, genetic testing, law, regulation, research, sharing, South Africa

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Authors: Sikander Singh Cheema, Jasmeen Kaur

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In this paper, the concept of data mining is summarized and its one of the important process i.e KDD is summarized. The data mining based on Genetic Algorithm is researched in and ways to achieve the data mining Genetic Algorithm are surveyed. This paper also conducts a formal review on the area of data mining tasks and genetic algorithm in various fields.

Keywords: data mining, KDD, genetic algorithm, descriptive mining, predictive mining

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Authors: Koteswara Rao Pagolu, Raghava Rao Tamanam

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In India, genetic disease is a disregarded service element in the community health- protection system. This study aims to gauge the accessibility of services for treating genetic disorders and also to evaluate the practices on deterrence and management services in the district health system. A cross-sectional survey of selected health amenities in the government health sector was conducted from 15 primary health centers (PHC’s), 4 community health centers (CHC’s), 1 district government hospital (DGH) and 3 referral hospitals (RH’s). From these, the existing manpower like 130 medical officers (MO’s), 254 supporting staff, 409 nursing staff (NS) and 45 lab technicians (LT’s) was examined. From the side of private health institutions, 25 corporate hospitals (CH’s), 3 medical colleges (MC’s) and 25 diagnostic laboratories (DL’s) were selected for the survey and from these, 316 MO’s, 995 NS and 254 LT’s were also reviewed. The findings show that adequate staff was in place at more than 70% of health centers, but none of the staff have obtained any operative training on genetic disease management. The largest part of the DH’s had rudimentary infrastructural and diagnostic facilities. However, the greater part of the CHC’s and PHC’s had inadequate diagnostic facilities related to genetic disease management. Biochemical, molecular, and cytogenetic services were not available at PHC’s and CHC’s. DH’s, RH’s, and all selected medical colleges were found to have offered the basic Biochemical genetics units during the survey. The district health care infrastructure in India has a shortage of basic services to be provided for the genetic disorder. With some policy resolutions and facility strengthening, it is possible to provide advanced services for a genetic disorder in the district health system.

Keywords: district health system, genetic disorder, infrastructural amenities, management practices

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Authors: Fariborz Ahmadi, Reza Tati

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Genetic algorithm is a soft computing method that works on set of solutions. These solutions are called chromosome and the best one is the absolute solution of the problem. The main problem of this algorithm is that after passing through some generations, it may be produced some chromosomes that had been produced in some generations ago that causes reducing the convergence speed. From another respective, most of the genetic algorithms are implemented in software and less works have been done on hardware implementation. Our work implements genetic algorithm in hardware that doesn’t produce chromosome that have been produced in previous generations. In this work, most of genetic operators are implemented without producing iterative chromosomes and genetic diversity is preserved. Genetic diversity causes that not only do not this algorithm converge to local optimum but also reaching to global optimum. Without any doubts, proposed approach is so faster than software implementations. Evaluation results also show the proposed approach is faster than hardware ones.

Keywords: hardware, genetic algorithm, computer science, engineering

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Authors: M. F. Miah, A. Chakrabarty

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Two popular and highly valued fish, Stinging catfish (Heteropneustes fossilis) and Asian catfish (Clarias batrachus) are considered for observing genetic enhancement. Cross breeding was performed considering wild and farmed fish through inducing agent. Five RAPD markers were used to assess genetic diversity among parents and offspring of these two catfish for evaluating genetic enhancement in F1 generation. Considering different genetic data such as banding pattern of DNA, polymorphic loci, polymorphic information content (PIC), inter individual pair wise similarity, Nei genetic similarity, genetic distance, phylogenetic relationships, allele frequency, genotype frequency, intra locus gene diversity and average gene diversity of parents and offspring of these two fish were analyzed and finally in both cases higher genetic diversity was found in F1 generation than the parents.

Keywords: Heteropneustes fossilis, Clarias batrachus, cross breeding, genetic enhancement

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Authors: J. Manuel Bello-López, Julieta Rojo-Medina

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Introduction: The transplant of Umbilical Cord Blood Units (UCBU) are a therapeutic possibility for patients with oncohaematological disorders, especially in children. In Mexico, 48.5% of oncological diseases in children 1-4 years old are leukemias; whereas in patients 5-14 and 15-24 years old, lymphomas and leukemias represent the second and third cause of death in these groups respectively. Therefore it is necessary to have more registries of UCBU in order to ensure genetic diversity in the country; the above because the search for appropriate a UCBU is increasingly difficult for patients of mixed ethnicity. Objective: To estimate the genetic diversity (polymorphisms) of Human Leucocyte Antigen (HLA) Class I (A, B) and Class II (DRB1) in UCBU cryopreserved for transplant at Cord Blood Bank of the NCBT. Material and Methods: HLA typing of 533 UCBU for transplant was performed from 2003-2012 at the Histocompatibility Laboratory from the Research Department (evaluated by Los Angeles Ca. Immunogenetics Center) of the NCBT. Class I HLA-A, HLA-B and Class II HLA-DRB1 typing was performed using medium resolution Sequence-Specific Primer (SSP). In cases of an ambiguity detected by SSP; Sequence-Specific Oligonucleotide (SSO) method was carried out. A strict analysis of populations genetic parameters were done in 5 representative UCBU populations. Results: 46.5% of UCBU were collected from Mexico City, State of Mexico (30.95%), Puebla (8.06%), Morelos (6.37%) and Veracruz (3.37%). The remaining UCBU (4.75%) are represented by other states. The identified genotypes correspond to Amerindian origins (HLA-A*02, 31; HLA-B*39, 15, 48), Caucasian (HLA-A*02, 68, 01, 30, 31; HLA-B*35, 15, 40, 44, 07 y HLA-DRB1*04, 08, 07, 15, 03, 14), Oriental (HLA-A*02, 30, 01, 31; HLA-B* 35, 39, 15, 40, 44, 07,48 y HLA-DRB1*04, 07,15, 03) and African (HLA-A*30 y HLA-DRB1*03). The genetic distances obtained by Cavalli-Sforza analysis of the five states showed significant genetic differences by comparing genetic frequencies. The shortest genetic distance exists between Mexico City and the state of Puebla (0.0039) and the largest between Veracruz and Morelos (0.0084). In order to identify significant differences between this states, the ANOVA test was performed. This demonstrates that UCBU is significantly different according to their origin (P <0.05). This is shown by the divergence between arms at the Dendogram of Neighbor-Joining. Conclusions: The NCBT provides UCBU in patients with oncohaematological disorders in all the country. There is a group of patients for which not compatible UCBU can be find due to the mixed ethnic origin. For example, the population of northern Mexico is mostly Caucasian. Most of the NCBT donors are of various ethnic origins, predominantly Amerindians and Caucasians; although some ethnic minorities like Oriental, African and pure Indian ethnics are not represented. The NCBT is, therefore, establishing agreements with different states of Mexico to promote the altruistic donation of Umbilical Cord Blood in order to enrich the genetic diversity in its files.

Keywords: cord blood, genetic diversity, human leucocyte antigen, transplant

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Authors: Brahim Sabir

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Psycho-Communication disorders negatively affect the academic curriculum for students in higher education. Thus, understanding these disorders, their causes and effects will give education specialists a tool for the decision, which will lead to the resolution of problems related to the integration of students with Psycho-Communication disorders. It is in this context that a statistical study was conducted, targeting the population object of study, namely Moroccan students. Pathological voice samples were recorded and analyzed acoustically with PRAAT software, in order to build a model that will be the basis for the objective diagnostic.

Keywords: psycho-communication disorders, acoustic analysis, PRAAT

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Authors: Kusmayadi Ita Nursita, Sundoro Ali

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

Keywords: cleft lip, cleft palate, characteristic, prevalence

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Authors: Gabriella Tjondro, Julita Dortua Laurentina Nainggolan

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Introduction: There are several things affecting menstrual cycle, namely, nutritional status, diet, financial status of one’s household and exercises. The most commonly used parameter to calculate the fat in a human body is body mass index. Therefore, it is necessary to do research to prevent complications caused by menstrual disorder in the future. Design Study: This research is an observational analytical study with the cross-sectional-case control approach. Participants (n = 124; median age = 19.5 years ± SD 3.5) were classified into 2 groups: normal, NM (n = 62; BMI = 18-23 kg/m²) and obese, OB (n = 62; BMI = > 25 kg/m²). BMI was calculated from the equation; BMI = weight, kg/height, m². Results: There were 79.10% from obese group who experienced menstrual cycle disorders (n=53, 79.10%; p value 0.00; OR 5.25) and 20.90% from normal BMI group with menstrual cycle disorders. There were several factors in this research that also influence the menstrual cycle disorders such as stress (44.78%; p value 0.00; OR 1.85), sleep disorders (25.37%; p value 0.00; OR 1.01), physical activities (25.37%; p value 0.00; OR 1.24) and diet (10.45%; p value 0.00; OR 1.07). Conclusion: There is a significant relation between body mass index (obese) and menstrual cycle disorders. However, BMI is not the only factor that affects the menstrual cycle disorders. There are several factors that also can affect menstrual cycle disorders, in this study we use stress, sleep disorders, physical activities and diet, in which none of them are dominant.

Keywords: menstrual disorders, menstrual cycle, obesity, body mass index, stress, sleep disorders, physical activities, diet

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Authors: Wafa Al Jabri

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Background: In Middle Eastern Countries (MECs), there is a high prevalence of genetic blood disorders (GBDs), particularly sickle cell disease and thalassemia. The GBDs are considered a major public health concern that place a huge burden to individuals, families, communities, and health care systems. The high rates of consanguineous marriages, along with the unacceptable termination of at-risk pregnancy in MECs, reduce the possible solutions to control the high prevalence of GBDs. Since the early 1970s, most of MECs have started introducing premarital screening services (PSS) as a preventive measure to identify the asymptomatic carriers of GBDs and to provide genetic counseling to help couples plan for healthy families; yet, the success rate of PSS is very low. Purpose: This paper aims to highlight the factors that affect the success of PSS in MECs. Methods: An integrative review of articles located in CINAHL, PubMed, SCOPUS, and MedLine was carried out using the following terms: “premarital screening,” “success,” “effectiveness,” and “ genetic blood disorders”. Second, a hand search of the reference lists and Google searches were conducted to find studies that did not exist in the primary database searches. Only studies which are conducted in MECs and published after 2010 were included. Studies that were not published in English were excluded. Results: Eighteen articles were included in the review. The results showed that PSS in most of the MECs was successful in achieving its objective of identifying high-risk marriages; however, the service failed to meet its ultimate goal of reducing the prevalence of GBDs. Various factors seem to hinder the success of PSS, including poor public awareness, late timing of the screening, culture and social stigma, lack of prenatal diagnosis services and therapeutic abortion, emotional factors, religious beliefs, and lack of genetic counseling services. However, poor public awareness, late timing of the screening, religious misbeliefs, and the lack of adequate counseling services were the most common barriers identified. Conclusion and Implications: The review help in providing a framework for an effective preventive measure to reduce the prevalence of GBDs in MECS. This framework focuses primarily in overcoming the identified barriers by providing effective health education programs in collaboration with religious leaders, offering the screening test to young adults at an earlier stage, and tailoring the genetic counseling to consider people’s values, beliefs, and preferences.

Keywords: premarital screening, middle east, genetic blood disorders, factors

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Authors: Khaled Al-Najjar, Ahmad Q. Al-Momani, Ahmed Elnahas, Reda Elsaid

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The research was carried out using records of Awassi sheep bred in drylands at Al-Fjaj Station, Jordan. That aimed to study non-genetic factors affecting milk yield (MK), litter size at birth (LZB); estimate heritability, repeatability, and genetic and phenotypic correlation using SAS and MTDFREML programs. The results were as follows, the average MK and LZB were 92.84 (kg) and 1.16, respectively. MK was highly significantly affected by each parity, age of ewe, year of lambing, and lactation period, while only the year of lambing had a significant effect on LZB. The heritability and repeatability were 0.07 and 0.10 for MK, while it was 0.05 and 0.25 for LZB. The genetic and phenotypic correlations were 0.17 and 0.02 between MK and LZB, respectively. The research concluded that the herd is genetically homozygous and therefore needs to increase genetic variance by introducing LZB-improved rams and selecting females from dams who achieved at least four parties to increase returns in drylands.

Keywords: Awassi sheep, genetic parameters, litter size, milk yield

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Authors: Amy Gooden

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Despite its prevalence, direct-to-consumer genetic testing (DTC-GT) remains under-investigated in South Africa (SA), and the issue of regulation is yet to be examined. Therefore, this research maps the current legal landscape relating to DTC-GT in SA through a legal analysis of the extant law relevant to the industry and the issues associated therewith – with the intention of determining if and how DTC-GT is legally governed. This research analyses: whether consumers are legally permitted to collect their saliva; whether DTC-GT are medical devices; licensing, registering, and advertising; importing and exporting; and genetic research conducted by companies.

Keywords: direct-to-consumer genetic testing, genetic testing, health, law, regulation, South Africa

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Authors: Norezzine Abdelaziz, Rebouh Nazih Yacer, Kezimana Parfait, Parpura D. I., Gadzhikurbanov A., Anastasios Dranidis

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The genetic variation of Shvicezebuvides cattle from three different farms in the Tajikistan Republic was studied using 10 microsatellite markers (SSR). The trials were laid out using a multi- locus analysis system for the analysis of cattle microsatellite locus. An estimated genetic variability of the examined livestock is given in the article. The results of our SSR analysis as well as the numbers and frequencies of common alleles in studied samples, we established a high genetic similarity of studied samples. These results can also be furthermore useful in the decision making for preservation and rational genetic resources usage of the Tajik Shvicezebuvides cattle.

Keywords: genetic characteristic, frequencies of the occurrence alleles, microsatellite markers, Swiss cattle

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Authors: H. Merhni, A. Sbiti, I. Ratbi, A. Sefiani

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The proximal spinal muscular atrophy (SMA) is a group of neuromuscular disorders characterized by progressive muscle weakness due to the degeneration and loss of anterior motor neurons of the spinal cord. Depending on the age of onset of symptoms and their evolution, four types of SMA, varying in severity, result in a mutations of the SMN gene (survival of Motor neuron). We have analyzed the DNA of 295 patients referred to our genetic counseling; since January 1996 until October 2014; for suspected SMA. The homozygous deletion of exon 7 of the SMN gene was found in 133 patients; of which, 40.6% were born to consanguineous parents. In countries like Morocco, where the frequency of heterozygotes for SMA is high, genetic testing should be offered as first-line and, after careful clinical assessment, especially in newborns and infants with congenital hypotonia unexplained and prognosis compromise. The molecular diagnosis of SMA allows a quick and certainly diagnosis, provide adequate genetic counseling for families at risk and suggest, for couples who want prenatal diagnosis. The analysis of the SMN gene is a perfect example of genetic testing with an excellent cost/benefit ratio that can be of great interest in public health, especially in low-income countries. We emphasize in this work for the benefit of the generalization of molecular diagnosis of SMA by the technique of PCR-enzymatic digestion in other centers in Morocco.

Keywords: Exon7, PCR-digestion, SMA, SMN gene

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Authors: Barbara Gawda

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The study attempts to show the relationship between the structure of love by Sternberg and personality disorder traits. People with personality disorders experience dysfunctional emotionality. They manifest difficulties in experiencing love and closeness. Their relationships are marked by ambivalence and conflicts, e.g., as in borderline and narcissistic personality disorders. Considering love as a crucial human feeling, the study was planned to describe the associations between intimacy, passion, commitment, and personality disorder traits in a community sample. A sample of 194 participants was investigated (men and women in similar age and education levels). The following techniques were used: the SCID-II to assess personality disorders’ traits and the Triangular Love Scale by Sternberg to assess the components of love. Results show there are significant negative correlations between intimacy, commitment and personality disorders traits. Many personality disorders are associated with decreasing of intimacy and commitment, whereas passion was not associated with personality disorders’ traits. Results confirm that emotional impairments in personality disorders elicit conflicts and problems in relationships based on love and closeness.

Keywords: intimacy, commitment, love, passion, personality disorders

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Authors: Mohammed Jamal Al-Mansor, Kok Beng Gan

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This paper develops an optimized embedding of payload in medical image by using genetic optimization. The goal is to preserve region of interest from being distorted because of the watermark. By using this developed system there is no need of manual defining of region of interest through experts as the system will apply the genetic optimization to select the parts of image that can carry the watermark with guaranteeing less distortion. The experimental results assure that genetic based optimization is useful for performing steganography with less mean square error percentage.

Keywords: AES, DWT, genetic algorithm, watermarking

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Authors: Mustafa Yorgancılar, Emine Atalay, Necdet Akgün, Ali Topal

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In this study, polymerase chain reaction based Inter-simple sequence repeat (ISSR) from DNA fingerprinting techniques were used to investigate the genetic relationships among barley crossbreed genotypes in Turkey. It is important that selection based on the genetic base in breeding programs via ISSR, in terms of breeding time. 14 ISSR primers generated a total of 97 bands, of which 81 (83.35%) were polymorphic. The highest total resolution power (RP) value was obtained from the F2 (0.53) and M16 (0.51) primers. According to the ISSR result, the genetic similarity index changed between 0.64–095; Lane 3 with Line 6 genotypes were the closest, while Line 36 were the most distant ones. The ISSR markers were found to be promising for assessing genetic diversity in barley crossbreed genotypes.

Keywords: barley, crossbreed, genetic similarity, ISSR

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Authors: Farman Ali, Asif Mahmood

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The utilization of genetic markers in prostate cancer management represents a significant advance in personalized medicine, offering the potential for more precise diagnosis and tailored treatment strategies. This paper explores the pivotal role of genetic markers in the diagnosis and treatment of prostate cancer, emphasizing their contribution to the identification of individual risk profiles, tumor aggressiveness, and response to therapy. By integrating current research findings, we discuss the application of genetic markers in developing targeted therapies and the implications for patient outcomes. Despite the promising advancements, challenges such as accessibility, cost, and the need for further validation in diverse populations remain. The paper concludes with an outlook on future directions, underscoring the importance of genetic markers in revolutionizing prostate cancer care.

Keywords: prostate cancer, genetic markers, personalized medicine, BRCA1 and BRCA2

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Authors: Amy Gooden, Meshandren Naidoo

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Genetic research and transfers of big data are not confined to a particular jurisdiction, but there is a lack of clarity regarding the legal requirements for importing and exporting such data. Using direct-to-consumer genetic testing (DTC-GT) as an example, this research assesses the status of data sharing into and out of South Africa (SA). While SA laws cover the sending of genetic data out of SA, prohibiting such transfer unless a legal ground exists, the position where genetic data comes into the country depends on the laws of the country from where it is sent – making the legal position less clear.

Keywords: cross-border, data, genetic testing, law, regulation, research, sharing, South Africa

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Authors: Ju-Chun Chien

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The Ottawa Charter for Health Promotion proposed that the role of health services should shift the focus from cure to prevention. Nowadays, besides having physical examinations, people could also conduct genetic tests to provide important information for diagnosing, treating, and/or preventing illnesses. However, because of the incompletion of the Chinese Genetic Database, people in Taiwan were still unfamiliar with genetic testing. The purposes of the present study were to: (1) Figure out people’s attitudes towards genetic testing. (2) Examine factors that influence people’s intention to pursue genetic testing by means of the Health Belief Model (HBM). A pilot study was conducted on 249 Taiwanese in 2017 to test the feasibility of the self-developed instrument. The reliability and construct validity of scores on the self-developed questionnaire revealed that this HBM-based questionnaire with 40 items was a well-developed instrument. A total of 542 participants were recruited and the valid participants were 535 (99%) between the ages of 20 and 86. Descriptive statistics, one-way ANOVA, two-way contingency table analysis, Pearson’s correlation, and stepwise multiple regression analysis were used in this study. The main results were that only 32 participants (6%) had already undergone genetic testing; moreover, their attitude towards genetic testing was more positive than those who did not have the experience. Compared with people who never underwent genetic tests, those who had gone for genetic testing had higher self-efficacy, greater intention to pursue genetic testing, had academic majors in health-related fields, had chronic and genetic diseases, possessed Catastrophic Illness Cards, and all of them had heard about genetic testing. The variables that best predicted people’s intention to pursue genetic testing were cues to action, self-efficacy, and perceived benefits (the three variables all correlated with one another positively at high magnitudes). To sum up, the HBM could be effective in designing and identifying the needs and priorities of the target population to pursue genetic testing.

Keywords: genetic testing, knowledge of GT, people in Taiwan, the health belief model

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Authors: Andrew Anis Fakhrey Mosaad

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Introduction: There are many different types of sleep disorders, each with serious implications for a person's health and a large financial burden on society. Method: This review offers a framework based on the International Classification of Sleep Disorders to aid in the diagnosis and treatment of sleep disorders. Differentiating between primary and secondary insomnia is covered, along with pharmacological and nonpharmacological therapy options. Common abnormalities of the circadian rhythm are mentioned along with their therapies, such as light therapy and chronotherapy. This article discusses the identification and management of periodic limb movement disorder and restless legs syndrome. The therapy of upper airway resistance syndrome and obstructive sleep apnea are the main topics of discussion. Conclusion: The range of narcolepsy symptoms and results, as well as diagnostic procedures and treatment, are discussed. The causes, outcomes, and treatments of many types of insomnias, such as sleep terrors, somnambulism, and rapid eye movement (REM) behavior sleep disorders, are discussed.

Keywords: diagnosis, treatment, sleep disorders, insomnia

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Authors: Girija Madhavanprabhakaran, Frincy Franacis, Sheeba Elizabeth John

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Introduction: A wide range of prenatal genetic screening is introduced with increasing incidences of congenital anomalies even in low-risk pregnancies and is an emerging standard of care. Being frontline caretakers, the role and responsibilities of nurses and midwives are critical as they are working along with couples to provide evidence-based supportive educative care. The increasing genetic disorders and advances in prenatal genetic screening with limited genetic counselling facilities urge nurses and midwifery nurses with essential competencies to help couples to take informed decision. Objective: This integrative literature review aimed to explore nurse midwives’ knowledge and role in prenatal screening and genetic counselling competency and the challenges faced by them to cater to all pregnant women to empower their autonomy in decision making and ensuring psychological comfort. Method: An electronic search using keywords prenatal screening, genetic counselling, prenatal counselling, nurse midwife, nursing education, genetics, and genomics were done in the PUBMED, SCOPUS and Medline, Google Scholar. Finally, based on inclusion criteria, 8 relevant articles were included. Results: The main review results suggest that nurses and midwives lack essential support, knowledge, or confidence to be able to provide genetic counselling and help the couples ethically to ensure client autonomy and decision making. The majority of nurses and midwives reported inadequate levels of knowledge on genetic screening and their roles in obtaining family history, pedigrees, and providing genetic information for an affected client or high-risk families. The deficiency of well-recognized and influential clinical academic midwives in midwifery practice is also reported. Evidence recommended to update and provide sound educational training to improve nurse-midwife competence and confidence. Conclusion: Overcoming the challenges to achieving informed choices about fetal anomaly screening globally is a major concern. Lack of adequate knowledge and counselling competency, communication insufficiency, need for education and policy are major areas to address. Prenatal nurses' and midwives’ knowledge on prenatal genetic screening and essential counselling competencies can ensure services to the majority of pregnant women around the globe to be better-informed decision-makers and enhances their autonomy, and reduces ethical dilemmas.

Keywords: challenges, genetic counselling, prenatal screening, prenatal counselling

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Authors: Dost Muhammad Halepoto, Laila AL-Ayadhi

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Neurodevelopmental disorders such as autism can cause lifelong disability. Genetic and environmental factors are believed to contribute to the development of autism spectrum disorder (ASD), but relatively few studies have considered potential environmental risks. Several industrial chemicals and other environmental exposures are recognized causes of neurodevelopmental disorders and subclinical brain dysfunction. The toxic effects of such chemicals in the developing human brain are not known. This review highlights the role of environmental risk factors including drugs, toxic chemicals, heavy metals, pesticides, vaccines, and other suspected neurotoxicants including persistent organic pollutants for ASD. It also provides information about the environmental toxins to yield new insights into factors that affect autism risk as well as an opportunity to investigate the relation between autism and environmental exposure.

Keywords: Autism Spectrum Disorder, ASD, environmental factors, neurodevelopmental disorder

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Authors: Ipek Sensu

Abstract:

Comorbid Axis I disorders are highly common for suicidal borderline personality disorder (BPD) patients, especially substance use disorder and anxiety disorders. Since interpersonal dysfunction is one of the core symptoms in BPD, the purpose of the current study is to examine perceived criticism and anxiety disorders and also substance abuse disorders (SUD) for women with borderline personality disorder (BPD) who attempt suicide at least once in their lifetime. In the current study, it was suggested that the perceived criticism from others and being upset by criticism differ between suicidal women with BPD with comorbidity of anxiety disorders and SUD (separately) and suicidal women with BPD without anxiety disorders and without SUD (separately). The participants in this study included ninety-nine women who have already been diagnosed with borderline personality disorder and also have had at least two episodes of deliberate self-harm, in other words, suicide attempts and/or non-suicidal self-injury (NSSI) in the last five years and at least one episode in the 8-week period before joining the research study and at least one suicide attempt in the previous year. Structured Clinical Interview for DSM-IV Axis I Disorders (SCID) and Social History Interview (SHI) were conducted to determine the comorbid axis I disorders and level of perceived criticism. As a result of the independent sample t-tests, the first hypothesis was rejected, in other words, women with BPD and a comorbid anxiety disorder did not show significantly higher levels of ‘criticized by others’, compared to women with BPD alone. However, the levels of ‘upset at criticism’ were significantly different between suicidal women with BPD with or without any anxiety disorders, which is the second hypothesis. In addition, the third hypothesis was also accepted; this means, women with BPD who had any substance use dependence would show significantly higher levels of 'criticized by others' compared to women with BPD alone. Finally, the fourth hypothesis was partly accepted: that is, women with BPD with alcohol dependence had significantly higher levels of ‘how upset when they expose to criticism’, compared to those without alcohol dependence. Limitations, implications, and directions for future research are discussed.

Keywords: anxiety disorders, borderline personality disorders, perceived criticism, substance use disorders

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Authors: Li Dan, Zhao Junsuo, Zhang Wenjun

Abstract:

Aiming at the shortcomings of the Quantum Genetic Algorithm such as the multimodal function optimization problems easily falling into the local optimum, and vulnerable to premature convergence due to no closely relationship between individuals, the paper presents an Improved Many Worlds Quantum Genetic Algorithm (IMWQGA). The paper using the concept of Many Worlds; using the derivative way of parallel worlds’ parallel evolution; putting forward the thought which updating the population according to the main body; adopting the transition methods such as parallel transition, backtracking, travel forth. In addition, the algorithm in the paper also proposes the quantum training operator and the combinatorial optimization operator as new operators of quantum genetic algorithm.

Keywords: quantum genetic algorithm, many worlds, quantum training operator, combinatorial optimization operator

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