Resultados de Pesquisa

INGLÊS

Genetic Disorders And Rare Diseases: Current Updates

258,38€ + 10% EM CARTÃO

DISPONIBILIDADE IMEDIATA

 Genetic disorders are diseases caused by mutation in gene(s) or due to chromosomal disorder. Although most genetic diseases are rare, but not all rare diseases are caused by genetic disorders. Due to limited information and lack of access to treatment, the management of rare diseases is frequently complicated. Up to December 2020, a total of 470 rare diseases have been registered and recognised by the Ministry of Health, Malaysia. This book highlights some of the genetic disorders and their resulting rare diseases that have been reported in Malaysia, including their prevalence, molecular mechanism and pathogenesis, besides discussing their diagnosis, treatment and prevention methods. The compilation of thirteen chapters is ultimately aimed at stimulating further research endeavours on the related diseases. Besides serving as an important reference to healthcare authorities, planners, policymakers, students, and the public; Genetic Disorders and Rare Diseases: Current Updates significantly contributes to the betterment of patient outcomes.
INGLÊS

Genetic Instability And Some Unusual Radiobiological Effects

de Ekaterina S. Evstratova

304,75€ + 10% EM CARTÃO

DISPONIBILIDADE IMEDIATA

 Genetic instability leads to the accumulation of many changes necessary to transform the stable genome of a normal cell into an unstable genome. Such a transformation can be the cause of radiation mutagenesis, carcinogenesis and aging - the main long-term effects of ionizing radiation, UV light, and other harmful environmental factors. A new quantitative assessment of the genetic instability was suggested, taking into account the delay in the formation of colonies by cells surviving after exposure to harmful agents. It was demonstrated that the genetic instability of yeast cells is mainly determined by cell ploidy, but not by the sigmoid shape of the survival curve or the cell’s ability of post-irradiation recovery. New experimental data confirm the participation of recovery processes in the manifestation of the relative biological effectiveness of densely ionizing radiation both for cell inactivation and for radiation-induced genetic instability. A number of universal patterns of synergic interactions are demonstrated, which did not depend on the used biological test and objects nor the interacting physical and chemical factors. Potential significance of synergy at low intensities of physical and chemical environmental factors is proved. Original data on the influence of cyclic heating and cooling on cell survival are obtained. It is concluded that osmotic homeostasis of cells, along with DNA, is an important target responsible for cell viability under the damaging action of various agents. Data on the favorable effect of the increased natural background of ionizing radiation are discussed. The manifestations of radiation hormesis were revealed for various radiation accidents, professional and medical exposure. The results obtained demonstrate that the action of high-energy ionizing radiation is accompanied by irradiation with UV light that occurs when charged particles move at a speed exceeding the speed of light in a given medium.
INGLÊS

Epigenetics: Beyond The Genetics And Medicine

304,75€ + 10% EM CARTÃO

DISPONIBILIDADE IMEDIATA

 Epigenetics refers to the study of changes in organisms that are caused by modifications of gene expression instead of alteration of the genetic code itself. This volume includes 30 chapters that explore epigenetics from a variety of perspectives, including the role of epigenetics in aging, cancers, fetal brain development, epilepsy, and more.
INGLÊS

Fragile X Syndrome: From Diagnosis To Treatment

125,88€ + 10% EM CARTÃO

DISPONIBILIDADE IMEDIATA

 Fragile X syndrome is an inherited disease caused by an excessive length of the FMR protein due to mutations in the FMR1 gene located on the X chromosome. It is commonly described as one of the most common genetic diseases with autism-like behaviors and related developmental disabilities. Beside intellectual delays, behavioral problems, and communication difficulties, mood disorders usually occur. Diagnosis is based on laboratory tests and DNA results. Phenotypes including long and narrow face, large ears, hyper-arched palate, flat feet, ataxia, seizures, anxiety, aggression, and hand-related stereotypic behaviors are frequently observed. Although there is no specific cure, early interventions are highly encouraging, promising, and recommended. Pharmacological treatments may be combined with behavioral and/or cognitive behavioral interventions. Recently, assistive technology-based programs have been implemented. This volume includes seven chapters and addresses the newest advances in the diagnosis and treatment of individuals with Fragile X syndrome. Chapter One encompasses the molecular features and pathological bases of the disease. A comprehensive literature overview was conducted. The role of the FMR protein was emphasized although few studies evaluated its function. Chapter Two deals with the neuropsychiatric symptoms related to the syndrome. A complete conceptual framework was exhaustively detailed. Chapter Three emphasizes the role of pharmacotherapy in the treatment of Fragile X syndrome. A further literature review was carried out. Clinical relevance was outlined. Chapter Four provides the reader with a conceptual analysis. Besides molecular features, brain development was described. Challenging behaviors were included and the importance of the early combined intervention was critically discussed. Chapters Five, Six, and Seven detailed three case reports on the effectiveness and the suitability of assistive technology-based interventions. Specifically, Chapter Five argued for microswitch-cluster technology focused on pursuing the dual simultaneous goal of promoting an adaptive response (i.e., object manipulation) and reducing a challenging behavior (i.e., hand mouthing). Chapter Six describes a combined microswitch and VOCA program useful to ensure the participant has the choice between independent access to positive stimulation and asking for social interaction. Finally, Chapter Seven includes choice opportunities through an assistive technology-mediated program involving a boy with Fragile X in a functional task. Targeted readers (i.e., caregivers, clinicians, speech therapists, professionals, psychologists, neurologists, parents of children with Fragile X syndrome, teachers) may find interesting and stimulating tips and insights for daily use in clinical research and practice, with the dual objective of diagnosis and treatment.
INGLÊS

Recurrence Risk In Autism Spectrum Disorders

de Michael Beenstock

212,00€ + 10% EM CARTÃO

DISPONIBILIDADE IMEDIATA

 The study of autism development disorders has been dominated by the neurodevelopmental paradigm for almost 50 years. This book challenges the exclusivity of the neurodevelopmental paradigm by using unique population cohort data to study recurrence risk of ASD in Israel. Randomness in the timing of ASD diagnoses of index children is exploited, as in a natural experiment, to randomize within-group reproductive stoppage. Some parents of children on the spectrum consciously refrained from reproductive stoppage by having further children. Other parents had further children before their index child was diagnosed. The former parents raised their further children having gained experience in raising children on the spectrum. The latter parents raised their children under a veil of ignorance, to be broken when their index children were diagnosed. Whereas neurodevelopmental theory predicts that recurrence risk is the same for both types of parents, behavioral theory predicts that they should be different. Population cohort data for Israel corroborate the predictions of behavioral theory. Indeed, corroboration applies in four different tests. More generally, the author calls for a level playing field in which behavioral theory of recurrence risk is placed on an equal footing as the dominant neurodevelopmental paradigm. He also argues for methodological pluralism in which the epidemiological toolbox is augmented with methods from statistics and econometrics. In summary, the author offers a critique of the current state of research on recurrence risk of ASD.
INGLÊS

P53: Structure, Functions And Role In Disease

125,88€ + 10% EM CARTÃO

DISPONIBILIDADE IMEDIATA

 p53: Structure, Functions and Role in Disease discusses the role of p53 dysregulation in different hematologic neoplasms defined by the current WHO classification. The prevalence of p53 aberration, mechanisms of p53 inactivation, regulation of p53 signaling pathway, and prognostic implications of p53 dysfunction in different hematologic malignancies are reviewed. The authors also discuss the prevalence of p53 mutations in cancers and important mechanisms underlying the impact of p53 mutations such as loss of function, dominant negative effect and gain of function. Recent findings related to the p53-mediated neuroprotective effects of natural compounds at the cellular, molecular, and behavioral level in various in vitro and in vivo models of neurodegenerative diseases are described, with a focus on Alzheimer’s disease.
INGLÊS

Gene Mutations: Causes And Effects

108,65€ + 10% EM CARTÃO

DISPONIBILIDADE IMEDIATA

 A gene is a DNA sequence that can be transcribed into an RNA molecule and transferred to offspring organisms. Changes in DNA sequences that determine the structure and function of a gene are called mutations. Gene Mutations: Causes and Effects opens by exploring the physical, chemical, and biological agents that cause mutations interact with DNA, leading to genetic instability. Recent advances in next-generation sequencing have led to the discovery of new causative genes or those mutations. The authors describe the phenotypes and gene mutations, discussing genotype-phenotype correlations compared with previous reports. Lastly, one study analyses all conflicting data concerning the amplification of the ESR1 gene, particularly its ambiguous prevalence in both untreated tumors and tumors either responsive or unresponsive to antiestrogen therapy.
INGLÊS

Comprehensive Guide To Genetic Counseling

125,88€ + 10% EM CARTÃO

DISPONIBILIDADE IMEDIATA

 In this compilation, the authors describe the psychological consequences and effects of predictive cancer genetic testing in both breast and ovarian cancer. Predictive genetic tests are being offered to an increasing number of women as the availability and public awareness of genetic testing increases. Next, A Comprehensive Guide to Genetic Counseling assesses the parental psychosocial implications, such as emotions and coping, regarding the earlier diagnosis of Usher syndrome via genetic testing compared to parents of children who were diagnosed later via ophthalmologic findings. The closing chapter reports on a comprehensive analysis of the studies performed on genetic counseling, particularly those pertaining to the Israeli Arab society. Furthermore, an overview of the various socio-demographic, economic, cultural and religious aspects is provided.
INGLÊS

Acetylcholine Receptors In Health And Disease

108,65€ + 10% EM CARTÃO

DISPONIBILIDADE IMEDIATA

 Acetylcholine Receptors in Health and Disease opens with a review of the results of an investigation on the cholinergic modulation of excitatory synaptic transmission in the frog tectum carried out in the laboratory of neurophysiology at the Lithuanian University of Health Sciences. Experiments were done in vivo on the common grass frog Rana temporaria. Next, the authors review the function of M4 MR and discuss possible detection methods. M4 MR regulated locomotion is studied in conjunction with recent data on consequences to biorhythms. In the closing chapter, the authors review the environmental enrichment paradigm in rodents, as well as their effects on neurobiological, physiological and behavioral variables in preclinical studies.
INGLÊS

Dna: Background, Laws And Backlog Of Evidence

212,00€ + 10% EM CARTÃO

DISPONIBILIDADE IMEDIATA

 Deoxyribonucleic acid, or DNA, is the fundamental building block for an individual’s entire genetic makeup. DNA is a powerful tool for law enforcement investigations because each person’s DNA is different from that of every other individual (except for identical twins). As early as the 1980s, states began enacting laws that required the collection of DNA samples from offenders convicted of certain sexual and other violent crimes. Chapter 1 provides an overview of how DNA is used to investigate crimes and help protect the innocent. Chapters 2and 3 report on the establishment of a system for integration of Rapid DNA instruments for use by law enforcement to reduce violent crime and reduce the current DNA analysis backlog. Chapter 4 examines what is known about the amount of backlogged DNA evidence at state and local government labs; the extent to which OJP measures CEBR grant performance; and the extent to which OJP has designed controls to identify conflicts of interest related to CEBR grants. Chapter 5 reviews the level of crime scene DNA evidence backlogs among CEBR grantees and the factors that contribute to such backlogs; the extent to which DOJ has clearly defined goals for CEBR; and the extent to which OJP has controls for CEBR related to federal conflicts of interest and lobbying requirements. In 2016, about 323,000 individuals aged 12 or older were reported victims of sexual assault, according to the Bureau of Justice Statistics. Studies have shown that exams performed by sexual assault forensic examiners—medical providers trained in collecting and preserving forensic evidence—may result in better physical and mental health care for victims, better evidence collection, and higher prosecution rates. Chapter 6 describes what was known in 2016 about the availability of sexual assault forensic examiners nationally and in selected states and the challenges selected states faced in maintaining a supply of sexual assault forensic examiners.
INGLÊS

Encyclopedia Of Genetics: New Research (8 Volume Set)

1828,50€ + 10% EM CARTÃO

DISPONIBILIDADE IMEDIATA

 This 8 volume encyclopedia set presents important research on genetics. Some of the topics discussed herein include the speciation of Arabian gazelles, tau alternative splicing in Alzheimer’s disease, Cornelia de Lange syndrome and autosomal dominant polycystic kidney disease.
INGLÊS

Genetics Researcher Biographical Sketches And Research Summaries

291,50€ + 10% EM CARTÃO

DISPONIBILIDADE IMEDIATA

 Compiles biographical sketches of top professionals in the field of genetics research, as well as research summaries from a number of different focuses in this important field.

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