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Articles from Springer a leading global scientific publisher of scientific books and journals. - dna paternity @ Sun, 9 Dec 2018 at 07:33 AM
Genetics and Tropical Forests - Tropical Forestry Handbook @ 2021-01-01
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Genetics and Tropical Forests - Tropical Forestry Handbook @ 2021-01-01
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Genetics in Forensic Science - Forensic Medicine and Human Cell Research @ 2019-01-01
DNA profiling is a powerful forensic technique to identify individuals because DNA is different among individuals, except for identical twins. Autosomal short tandem repeat (STR), Y chromosomal STR, and mitochondrial DNA testing have been performed for identification. Autosomal STR and Y chromosomal STR are analyzed using STR multiplex assays that simultaneously amplify many STR loci. Therefore, large amounts of information can be obtained from a small amount of DNA. Mitochondrial DNA testing is an efficient way to identify from samples, especially those that have low and/or highly degraded DNA content. DNA profiling is useful not only for forensic casework but also for cell line authentication.Significant associations between gene polymorphisms and the response to drugs have been well demonstrated. Multiple drug resistance 1 pumps many foreign substances out of the cells and plays an important role in limiting drug absorption and distribution. Cytochrome P450 enzymes play a major role in drug metabolism. The dopamine D2 receptor is the common target for most antipsychotic drugs. Catechol-O-methyltransferase is an enzyme that degrades catecholamines. Polymorphisms in these genes are associated with drug response. Thus, genetic background should be considered in the forensic autopsy diagnoses of intoxication.
 
Prenatal Diagnosis of Tay-Sachs Disease - Prenatal Diagnosis @ 2019-01-01
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Prenatal Diagnosis of Tay-Sachs Disease - Prenatal Diagnosis @ 2019-01-01
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NO SQL Approach for Handling Bioinformatics Data Using MongoDB - Emerging Technologies in Data Mining and Information Security @ 2019-01-01
Proliferation of genomic, diagnostic, medical, and other forms of biological data resulted in categorizing of biological data as bigdata. The low-cost sequencing machinery, even in small research labs, is generating large volumes of data which now needs to be mined for useful biological features and knowledge. In this paper, we have used a NoSQL approach to handle the repeat information of the entire human genome. A total of 12 million repeats have been extracted from the entire human genome and have been stored using MongoDB, a popular NoSQL database. A web application has been developed to query data from the database at ease. It is evident that bioinformaticians tend to shift their database development approach from traditional relational model to novel approaches like NoSQL in order to handle the massive amounts of biological data.
 
Conservation of European White Elm and Black Poplar Forest Genetic Resource: Case Study in Serbia - Forests of Southeast Europe Under a Changing Climate @ 2019-01-01
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Conservation of European White Elm and Black Poplar Forest Genetic Resource: Case Study in Serbia - Forests of Southeast Europe Under a Changing Climate @ 2019-01-01
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The use of antenatal tests for routine screening of neuromuscular disorders is currently not recommended due to insufficient validated data justifying the merits and demerits. Currently, screening of neuromuscular disorders is done in research settings and on an individual case when a genetic etiology is suspected for which a confirmatory genetic diagnosis can be obtained more quickly and accurately by appropriate techniques. In the latter scenario, the patients are worked-up under the guidance of expert geneticists who form the core of a multidisciplinary team of experts. Genetic causes of neuromuscular disorders represent significant morbidity and mortality in patients, affected family members, and the public healthcare system [1]. Although recent clinical trials show promising results, current treatment strategies primarily are aimed at supportive care, rehabilitation, and delay the complications. Hence, genetic counseling and prenatal testing are the need of the hour for families at risk and in sporadic cases where imaging abnormalities are detected during antenatal screening.
 
The invariance of quantitative gene product expression provides a means to define bone marrow specimen composition including proportions and maturation of cells in each lineage as well as specimen quality. The location of these normal cells in the data space is independent of age and marrow stress. This constancy of gene product expression allows the detection of aberrant cell populations down to 0.02% even without a diagnostic phenotype for reference. Detection of leukemia at low levels has been validated by direct, correlative, and indirect studies all demonstrating that the assay is specific as well as sensitive. It is not necessary to utilize more than four immunofluorescence colors to monitor response to therapy. A major clinical trial group has incorporated this approach in the treatment of patients, replacing morphology as the means to detect response to therapy in patients with AML.
 
Clinical Symptomatology of Huntington’s Disease - Pathology, Prevention and Therapeutics of Neurodegenerative Disease @ 2019-01-01
Huntington’s disease (HD) is a dominantly inherited autosomal neuropsychiatric degenerative disease with a fatal prognosis, caused by a mutation—the expansion of C-A-G (cytosine-adenine-guanine) triplet repeats 40 and more repetitions on the short arm of fourth chromosome. The product of the mutation is an aberrant protein called huntingtin with an enlarged polyglutamine stretch. The prevalence of HD is approx. 1:10–15,000. The typical onset of HD is in the fourth decade, with a minority of cases starting in childhood or adolescence (juvenile HD) or in patients older than 65 years of age (late onset HD).Early symptoms of classical form are usually nonspecific: behavioral changes, personality disorders, affective symptoms, etc. The affected person begins to be apathetic, emotionally flattened, losing interest in any hobbies. Other patients show jealousy, paranoid suspicions, obsessive thoughts, and compulsive acts. The patients have difficulties with work-related activities, partly due to the early appearance of executive dysfunction, and partly due to apathy and lack of concern. Typical motor symptoms are choreatic and/or dystonic dyskinesias, the impairment of voluntary movements, gait disorder, dysphagia, and dysarthria.In the progression of HD cognitive disturbance appears leading to severe dementia. During the course of the disease, chorea is individually progressive, eventually decreasing in intensity, spontaneously subsiding and converting to dystonia, and finally to akinesia. The progression of HD leads inevitably to the marantic, cachectic state with a total loss of voluntary movement.The first signs in juvenile form are difficulties with school activities related to psychomotor retardation, motor dyscoordination, voluntary movement impairment, and cognitive deterioration. Behavioral changes are characteristic for JHD: outbursts of anger, aggression, antisocial tendencies as well as obsessive thoughts and compulsive acts. Psychotic manifestations are more common than in adults with HD. Chorea is rare, dystonia and/or rigidity with akinesia dominate. Gait disorder with postural instability and frequent falls arises rapidly. Myoclonus of the head and trunk, postural and kinetic tremor of the upper extremities as well as supranuclear gaze palsy are frequently present. Epileptic seizures could be present.Late onset form has a relatively benign course and most patients live to the average age of the healthy population. The principal and incipient manifestation is chorea, whose distribution and character do not differ from the classical form of the disease, but is less intensive and progresses more slowly. Apathy, depression, and irritability are frequent behavioral manifestations. Isolated cognitive deficits are usually present (especially dysexecutive syndrome and short-term memory impairments), but to the lesser degree than in the classical form. Severe dementia does not usually develop.Clinical diagnosis is confirmed using a genetic test. Adult and healthy people at risk could ask for the predictive genetical testing, but a specific protocol is needed. Children and adolescents are typically not tested. Prenatal testing is also available. A preimplantation genetic diagnosis can determine the health of the embryo without knowing the genetic risk factors of the parents.
 
The paper approaches the field of biomedicine as an example of a modern science–society relationship by means of identifying and analysing the range of public encounters with this field of research and practice, and the differing communication models underlying these encounters. Guided by theoretical and empirical research into science communication and public understanding of science, the paper classifies public encounters with biomedicine into three general types related to (1) consuming—learning about biomedicine from different media and formats of popular culture, (2) experiencing—accumulating personal experience from biomedical practices, and (3) governing—getting engaged in the processes of decision-making on biomedicine. It is argued that the various formats of encounters each have a definite role and contribution to embedding and steering the development of biomedicine in modern society, yet, given the nature of this field as provoking both public interest and dissent, it is important that these formats are mutually well balanced and guided by a dialogue-based and participatory paradigm.
 
As we know, NM, or better narrative healthcare, focuses on the interaction between patients and healthcare professionals, especially across moments of disease starting from when the disease first manifested. It gives voice and meanings to the way the patient lives the disease, how the disease and the patient are treated and to critical aspects that might suggest unmet needs in healthcare pathways (Greenhalgh and Hurwitz 1999). Narratives can be collected either through reflective writing (which itself elicits a therapeutic effect on the person writing) or through verbal testimony. The narratives we collect are authentic and do not belong to the fiction or literature. The aim of NM is to create an aligned relationship between carers and patients to allow patients to find the factors for coping, i.e. to master the stress induced by the disease, the rupture of a previous status of wellbeing, with its partial loss.
 
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