https://novapublishers.com Publisher of Books and Journals in Medicine and Health, Science and Technology and Social Sciences Wed, 08 Feb 2023 15:47:41 +0000 en-US hourly 1 https://wordpress.org/?v=6.1.1 https://novapublishers.com/wp-content/uploads/2018/08/cropped-nova-favicon-32x32.jpg https://novapublishers.com 32 32 https://novapublishers.com/shop/frontiers-in-lysosomal-storage-diseases-lsd-treatments/ Fri, 07 Oct 2022 19:58:53 +0000 https://novapublishers.com/?post_type=product&p=143932 Lunawati Bennett, MS, MRE, PhD, PharmD, FACN - Professor of Pharmaceutical Sciences, College of Pharmacy, Union University, Jackson, TN, USA Series: Metabolic Diseases - Laboratory and Clinical Research BISAC: MED081000; MED069000; SCI029000 DOI: https://doi.org/10.52305/EQQO7891 This book provides a comprehensive collection of more than 50 inherited metabolic lysosomal disorders which aims to provide the most up to date literature sources oriented toward improving our understanding of rare diseases to meet the diverse needs of scientists, physicians, pharmacists, nurses, and other health care professionals with an interest in serving patients with diseases such as Gaucher, Fabry, Pompe, and others. The book is divided into 24 chapters. Chapter 1 is an introduction about LSDs, a group of rare diseases due to deficiency in lysosomal enzymes, membrane transporters or other proteins involved in lysosomal biology. Chapter 1 discussed the function of lysosomes, methods to differentiate lysosome dysfunctions, and current therapeutic approaches including Hematopoietic Stem Cells Transplantation (HSCT), Enzyme Replacement Therapy (ERT), Substrate Reduction Therapy (SRT), Pharmacologic Chaperone Therapy (PCT), and Gene Therapy. Chapter 1 provides a list of different LSDs based on their name, clinical name, gene being affected, enzyme or protein deficiency, primary storage accumulation, and major organs being affected. From Chapter 2 to Chapter 24, information about the diseases, characteristics, diagnosis, pathophysiology of the disease, current and future treatment options from reputable books, journals, monographs, clinical trials, and other resources were used to provide up-to-date medical information on these devastating diseases. New drugs in the pipeline such as Gene Therapy or Gene Editing Therapy, if applicable, are also discussed in the book. Within the last 20 years, the FDA has designated more than 100 compounds as Orphan Drugs to treat LSD, although not all drugs make it into clinical trials. This is an exciting time for us to learn about these rare metabolic disorders as more information has become available.

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"This book is a very useful resource written from the most up to date literature sources aimed towards improving understanding of more than 50 lysosomal diseases.  Lysosomal diseases are caused by inherited gene mutations that lead to a deficiency in lysosomal enzymes or associated proteins, which in turn causes progressive and chronic somatic and neurological disorders. In this monograph, Dr. Luna Bennett has written 24 chapters providing information about the diseases, characteristics, diagnosis, and treatment options. Research to develop treatments for lysosomal diseases continues to increase in the number of agents being studied and in the number of new biotechnology approaches, including novel administration routes and drug design aimed at improving bio-availability to affected tissues. This book provides information in a format and context that makes it useful for health care providers and research scientists, as well as patients with lysosomal diseases and their family members."   - Jeanine Jarnes PharmD BCOP BCPS, Assistant Professor, Department of Pediatrics, University of Minnesota, Pharmacotherapy for Inherited Metabolic Diseases, Advanced Therapies Department

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 ]]> https://novapublishers.com/shop/epigenetics-beyond-the-genetics-and-medicine/ Mon, 13 Jun 2022 19:41:50 +0000 https://novapublishers.com/?post_type=product&p=126627 Sevgi Durna Daştan - Associate Professor, Faculty of Science, Department of Biology, Division of Molecular Biology, Sivas Cumhuriyet University, Sivas, Turkey Nazan Yurtcu - Assistant Professor, Faculty of Medicine, Department of Obstetrics and Gynecology, Sivas Cumhuriyet University, Sivas, Turkey Series: Genetics - Research and Issues BISAC: MED107000 DOI: 10.52305/IVZP1313 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.]]> https://novapublishers.com/shop/fragile-x-syndrome-from-diagnosis-to-treatment/ Wed, 19 Jan 2022 17:53:05 +0000 https://novapublishers.com/?post_type=product&p=110219 Series: Genetics - Research and Issues BISAC: EDU026030; MED107000 DOI: https://doi.org/10.52305/KEUN5004 Target Audience: Caregivers, clinicians, speech therapists, professionals, psychologists, neurologists, parents of children with Fragile X syndrome, and 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. 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. **Order both the printed version and the e-book together and SAVE!**]]> https://novapublishers.com/shop/recurrence-risk-in-autism-spectrum-disorders/ Sun, 17 Oct 2021 20:09:02 +0000 https://novapublishers.com/?post_type=product&p=105504 Michael Beenstock (Author)- Pinchas Sapir Professor of Economics at the Hebrew University of Jerusalem, Israel Series: Genetics - Research and Issues BISAC: PSY022020 DOI: https://doi.org/10.52305/SKDD3567 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.]]> https://novapublishers.com/shop/stem-cells-in-disease-pathogenesis/ Mon, 17 May 2021 14:20:45 +0000 https://novapublishers.com/?post_type=product&p=96307 Prasad S. Koka (Editor) Series: Stem Cells - Laboratory and Clinical Research BISAC: MED107000 The normal functioning of the human female reproductive system is sacrosanct, as it allows for the essential nurturing of offspring. Conditions such as endometriosis and fibroid formation can have devastating consequences to the progeny, as well as the parents, both physically and mentally. This book has several chapters that deal with the role of stem cells in the safer outcome of pregnancies. Mesenchymal stem cells continue to make waves as various researchers dwell on their low immunogenicity to prevent graft rejection when used for therapeutic strategies. Dental pulp-derived stem cells are being sought after to address many therapies. However, researchers must exercise ethical caution to avoid resorting to pulling out the teeth of live, healthy animals, including those qualified for pets. The efficacy of cancer treatments with naturally occurring plant-derived substances and the characterization of cancer stem cells and lesions continue to engage researchers of this ever-perennial disease and its potentially lethal pathology. Stem cells to replenish the pancreatic islet cells from induced pluripotent stem cells are an actively pursued subject in regenerative medicine for diabetes patients. Stem cells in immune responses are also attracting researchers to investigate immune tolerance and autoimmunity.]]> https://novapublishers.com/shop/excelling-in-life-with-down-syndrome/ Thu, 13 May 2021 15:58:22 +0000 https://novapublishers.com/?post_type=product&p=96998 Series: Disability and the Disabled - Issues, Laws and Programs BISAC: MED000000 Target Audience: Professionals, families, paid carers of people with Down syndrome. Description: Life expectancy for adults with Down syndrome has dramatically increased over the last 100 years. Many people with Down syndrome are now living into their 60’s and 70’s. Further, there has been a marked social shift in people with Down syndrome no longer living in large impersonal institutions but now living in the community, often within their family homes or independently. Children are becoming literate and adolescents are acquiring professions and hobbies. This integration into society results in a higher quality of life. Many previously published textbooks have reviewed the medical and psychological conditions associated with Down syndrome. This book aims to highlight the more positive aspects of the life of people with Down syndrome. Fruitful examples, such as the Special Olympics, camping, arts, digital literacy and citizenship actions are included. The book presents early childhood interventions, transition of children to adults, experience with PALS programs, the role of positive behavior support and self-directed support, and finally optimal aging. The aim of this book is primarily to educate families, carers and professionals that people with Down syndrome can achieve excellent well-being in physical, mental and spiritual domains. One’s ability to maximize their own well-being is a human right which also reduces risks and costs associated with mental illness. We hope this book highlights the importance for children and adults with Down syndrome to be seen as valued citizens of their community and allows their voices to be heard.]]> https://novapublishers.com/shop/p53-structure-functions-and-role-in-disease/ Mon, 21 Sep 2020 14:15:46 +0000 https://novapublishers.com/?post_type=product&p=85849 Genetics - Research and Issues BISAC: MED107000 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.]]> https://novapublishers.com/shop/advances-in-genetics-research-volume-20/ Thu, 18 Jun 2020 13:53:12 +0000 https://novapublishers.com/?post_type=product&p=75220 Kevin V. Urbano (Editor) Series: Advances in Genetics Research BISAC: MED107000 Genetic disorders constitute an important portion of childhood mortality, stillbirths, and ongoing disability. Single gene disorders arising from gene mutations, affecting any aspect of function or structure of the gene, are extraordinarily diverse. Most of these gene disorders are usually rare, but collectively they constitute an important public health burden. As such, the authors address the requirement for essential genetic and management services. Age-related macular degeneration is discussed, with risk factors including age, gender, ethnicity, smoking, body weight, hypertension and diet. Confluence of genetic and environmental risk factors lends credence to a complex, multifactorial etiologic model of development of age-related macular degeneration. Continuing, this compilation explores the molecular mechanisms of telomere attachment, specifically during the interphase. Their study is important not only for general telomere biology, but also for the understanding of cell aging and etiology of telomere-associated aging diseases. The important transcriptomic analyses performed in Streptomyces are discussed, particularly addressing how they contribute to uncovering the biochemical mechanisms that regulate morphology and secondary metabolism activation. A focus on bovine mastitis is provided, the most economically devastating disease affecting the dairy industry. Resistance to mastitis is a complex function involving various biological pathways, molecules and cells. Genetic factors are one of several factors affecting the occurrence of mastitis. The closing study centers on the way in which extracellular DNA is enriched with pericentromeric tandem repeats, the most variable portion of the genome up to species specificity.]]> https://novapublishers.com/shop/gene-mutations-causes-and-effects/ Tue, 22 Oct 2019 17:26:32 +0000 https://novapublishers.com/?post_type=product&p=65490 Helena M. Christoffersen (Editor) Series: Genetics - Research and Issues BISAC: MED107000 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. (Imprint: Nova Medicine and Health)]]> https://novapublishers.com/shop/prader-willi-syndrome/ Fri, 26 Jul 2019 13:16:47 +0000 https://novapublishers.com/?post_type=product&p=57335 Charlotte Höybye (Editor) Senior consultant, Associate professor Department of Endocrinology, metabolism and Diabetology, Karolinska University Hospital Stockholm, Sweden Series: Congenital Disorders - Laboratory and Clinical Research, Genetics - Research and Issues BISAC: MED107000 Prader-Willi syndrome (PWS) is a rare, genetic, multisystemic disorder, characterized by short stature, muscular hypotonia, intellectual disability, behavioural and psychological problems and frequently hypogonadism and impaired growth hormone secretion. PWS arises due to loss of function of paternally-expressed, imprinted genes from chromosome region 15q11-q13. In newborns and infants, the syndrome presents symptoms of muscular hypotonia and nutritional difficulties, which from the age of approximately two years is replaced by hyperphagia often leading to severe obesity. With increasing age the behavioural and psychological problems increase while the muscular hypotonia improves. During the last decades the knowledge of different aspects of PWS has increased and accordingly the treatment possibilities. However, no specific treatment exists and thus problems continue lifelong. Taking care of PWS patients is therefore a demanding task and necessitates a solid knowledge and understanding of the disorder as well as a multidisciplinary approach. This book will provide professionals taking care of patients with PWS with updated and comprehensive information and advice. The content is built up logically and it will be easy to navigate between the chapters, which cover all clinically relevant issues, genetics, signs and symptoms in children and adults, treatment, words from patients and parents, supporting organizations, and from a parent to a PWS patient. (Imprint: Nova Biomedical )]]> https://novapublishers.com/shop/cleft-lip-and-palate-etiology-surgery-and-repair-and-sociopsychological-consequences/ Thu, 25 Jul 2019 13:21:56 +0000 https://novapublishers.com/?post_type=product&p=57192 Noemi Jaso (Editor) Ana Maria D'Cruz (Editor) Series: Congenital Disorders - Laboratory and Clinical Research BISAC: HEA018000 Cleft lip and palate (CLP) is one of the most frequent congenital malformations of the head and neck. It is the result of the failure of fusion of the facial structures involved in the formation of the lip and palate between the fifth and ninth weeks of pregnancy. In this book, the authors present current research on the etiology, surgery and repair and sociopsychological consequences relating to cleft lip and palate malformation. Topics include the classification and birth prevalence of oral clefts; dental rehabilitation of cleft lip and palate in the different stages of life; effects of presurgical infant orthopedics in patients with cleft lip and palate; pediatric dental and orthodontic care as part of the multidisciplinary treatment required in cleft lip and palate in affected infants to adults; prenatal detection of cleft lip by bi-dimensional ultrasound; characterizing velopharyngeal closure insufficiency under various oral pressure conditions in cleft palate; and speech outcomes in unilateral complete cleft lip and palate patients. (Imprint: Nova Biomedical )]]> https://novapublishers.com/shop/pten-structure-mechanisms-of-action-role-in-cell-signaling-and-regulation/ Thu, 18 Jul 2019 13:57:07 +0000 https://novapublishers.com/?post_type=product&p=56549 Series: Protein Biochemistry, Synthesis, Structure and Cellular Functions BISAC: SCI007000 PTEN (Phosphatase and Tensin Homolog) is a dual-specificity phosphatase and a member of the broad protein tyrosine phosphatase family. The PTEN gene encodes a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It plays an important role in a variety of cellular processes including cell proliferation, cell differentiation, cell migration and cell death. When the PTEN enzyme functions properly, it acts as part of a pathway that signals cells to stop dividing and can cause cells to undergo programmed cell death when necessary. These functions prevent uncontrolled cell growth. When the PTEN enzyme function is disrupted, it can lead to human diseases such as cancer, Cowden syndrome, chronic inflammatory syndromes, developmental defect and diabetes. Especially in cancer, PTEN is one of the most widely studied tumor suppressor genes. It has been found to be the second most frequently mutated gene in human cancers, second only to the tumor suppressor p53 gene. The goal of this book is to provide a wide-ranging forum in the PTEN research field, in particular, with a focus on the structure, mechanism of action and role in cell signaling and regulation. The authors contributing to this book are all active researchers in the PTEN research field. They present the most recent advances, approaches and future prospects on PTEN research. This book is suitable as both a professional reference and as a text for biological, medical, biomedical and pharmaceutical interest to scientists, clinicians, teachers and students. (Imprint: Nova Biomedical )]]>