Medical genetics Books

Book SynopsisBacterial pili play important roles as environmental sensors, in host colonization and in biofilm formation, enabling bacteria to interact with the environment, with surfaces and with other bacteria and host cells. Most bacteria, both Gram positive and Gram negative, and almost all bacterial pathogens, are piliated. This book discusses the synthesis, structure, evolution, function and role in pathogenesis of these complex structures, and their basis for vaccine development and therapeutics for Streptococcus pathogens. It is an invaluable resource for researchers and students of medical microbiology.Table of ContentsA: Table of Contents B: Foreword Sixty Years of Pilus research 1: The Vibrio cholerae toxin coregulated pilus: structure, assembly and function with implications for vaccine design 2: Conjugative pili 3: Pilus biogenesis by the chaperone-usher pathway 4: Type 1 and P Pili of Uropathogenic Escherichia coli 5: Type IV pili: functions and biogenesis 6: The Pseudomonas aeruginosa type IV pilus assembly system in three dimensions 7: Corynebacterium diphtheriae pili: Assembly, Structure, and Function 8: Three-dimensional structures of pilin subunits and their role in Gram-positive pilus assembly and stability 9: Sortase structure and specificity in Streptococci 10: Pili of Streptococcus pyogenes 11: The role of pili in the formation of biofilm and bacterial communities 12: Fimbrae/Pili from oral bacteria 13: Pilus based vaccine development in Streptococci: Variability, Diversity & Immunological responses

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Book SynopsisBacterial pili play important roles as environmental sensors, in host colonization and in biofilm formation, enabling bacteria to interact with the environment, with surfaces and with other bacteria and host cells. Most bacteria, both Gram positive and Gram negative, and almost all bacterial pathogens, are piliated. This book discusses the synthesis, structure, evolution, function and role in pathogenesis of these complex structures, and their basis for vaccine development and therapeutics for Streptococcus pathogens. It is an invaluable resource for researchers and students of medical microbiology.Table of ContentsA: Table of Contents B: Foreword Sixty Years of Pilus research 1: The Vibrio cholerae toxin coregulated pilus: structure, assembly and function with implications for vaccine design 2: Conjugative pili 3: Pilus biogenesis by the chaperone-usher pathway 4: Type 1 and P Pili of Uropathogenic Escherichia coli 5: Type IV pili: functions and biogenesis 6: The Pseudomonas aeruginosa type IV pilus assembly system in three dimensions 7: Corynebacterium diphtheriae pili: Assembly, Structure, and Function 8: Three-dimensional structures of pilin subunits and their role in Gram-positive pilus assembly and stability 9: Sortase structure and specificity in Streptococci 10: Pili of Streptococcus pyogenes 11: The role of pili in the formation of biofilm and bacterial communities 12: Fimbrae/Pili from oral bacteria 13: Pilus based vaccine development in Streptococci: Variability, Diversity & Immunological responses

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Book SynopsisThis book brings together many of the main conclusions of the European Concerted Action Programme on Genetic Hearing Impairment (HEAR). It is spilt into four sections, covering definitions, protocols, genotype/phenotype relationships and important websites.The section on definitions enables all those approaching the problems of Genetic Hearing Impairment from different backgrounds to communicate in the same language and understand what each is doing more clearly. The definitions are of Audiological, Vestibulogical, Epidemiological and Genetic terms, together with specific terms associated with particular craniofacial abnormalities. The second section comprises protocols for the minimal set investigation of patients and their family members with genetic hearing impairment. Relatively little work has been done in the past on the balance of disorders which may be associated with Genetic Hearing Impairment and a protocol aiming to elucidate some of these factors in a relevant way has been defined. The final chapter in this section deals with how audiologists should relate to genetic laboratories in an attempt to reduce the confusion which has risen in this field in the past. The third section is concerned with the relationship between genotypes and phenotypes in non-syndromal hearing impairment in the conditions in which the genes have so far been localised and in many cases identified. The final section deals with the important websites within this field. The most important and the most visited is the Hereditary Hearing Loss website based on Antwerp and managed by Guy Van Camp and Richard Smith.Table of ContentsIntroduction - putting together the pieces of the auditory puzzle Section 1 - Terminology and Definitions. Audiological terms. Vestibular definitions. Epidemiological terms. Genetic terms. Section 2 - Protocols. Audiometric investigation of probands. Audiometric investigation of first degree relatives. Audiometric investigation of carriers. Vestibular protocol. Epidemiological criteria. The European congenital ear anomaly inventory. Protocol for syndromal disorders associated with hearing impairment. How to collaborate with a genetic lab. Section 3 - Phenotype/Genotype Correlation. Introduction - Genotypes and phenotypes of non-syndromal hearing impairments. Phenotype/Genotype correlation autosomal dominant and autosomal recessive non-syndromatic hearing impairment. X-genotypes and phenotypes of non-syndromal X-linked hearing impairment. Phenotype/genotype correlation hearing impairment with mitochondrial DNA mutations. Section 4 - Relevant web sites. The hereditary hearing loss homepage. Connexin 26 (GJB2) deafness homepage.

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Book SynopsisThe aim of this book is to provide a description of what is currently known about the genetics of deafness for audiologists, otologists and general genetics. It includes a number of background chapters introducing relevant genetics for audiologists and otologists and relevant aspects of auditory intervention for geneticists. These cover the epidemiology of hearing loss and the current situation with regard to gene identification within the field. Chapters on the common syndromes, eg Ushers, Waardenburg, Pendred, Branchio-otorenal and Treacher Collins are followed by coverage of Dominant, Recessive and x-linked non-syndromal deafness, together with mitrochondial deafness. The final section includes chapters on the genetic, rehabilitative and surgical management of genetic disorders.Table of ContentsForeword. Preface. Contributors. Acknowledgements. Part I Background. Chapter 1 Basic mechanisms of hearing and hearing impairment, Karen P Steel and Alan Plamer. Chapter 2 Basic genetic mechanisms, Andrew P Read. Chapter 3 Methods of identifying hearing loss genes, Bruno Dallapiccola, Rita Mingarelli and Andrew P Read. Chapter 4 The use of gene libraries in the study of the molecular genetics of the auditory system, William J Kimberling and Kirk Beisel. Chapter 5 Mouse models for human hearing impairment, Steven DM Brown and Karen P Steel. Chapter 6 Gene linkage in genetic hearing loss: Where are we now? Cor WRJ Cremers. Chapter Par II Audiology Chapter 7 Epidemiology of genetic hearing impairment, Agnete Parving. Chapter 8 The audiological approach to genetic hearing impairment in children, Edoardo Arslan and Eva Orzan. Chapter 9 Audiometric patterns of genetic hearing loss, Alessandro Martini and Silvano Prosser. Chapter 10 The detection of carriers of genetic hearing loss, Dayfydd Stephens and Eva Orzan. Chapter 11 Blance function and hearing loss, Claes Moller. Chapter 12 The diagnostic approach to syndromal hearing loss, Elisa Calzolari and Alberto Sensi. Chapter 13 Auditory dysfunction in genetic disordersd of the skelton, Peter Beighton. Chapter 14 Usher syndrome, William J Kimberling and Richard JH Smith. Chapter 15 Pendred syndrome, William REardon and Richard C Trembath. Chapter 16 Waardenburg syndrome, Andrew P Read and Valerie E Newton. Chapter 17 Alport syndrome, Han G Brunner. Chapter 18 Neurofibromatosis type II, D Gareth R Evans. Chapter 19 Branchio-oto-renal syndrome, Richard JH Smith and William J Kimberling. Chapter 20 Treacher Collins syndrome, Michael J Dixon. Part IV Non-Syndromal Hearing Loss. Chapter 21 Automsomal recessive non-syndromal hearing loss, Chrinstine Petit. Chapter 22 Autosomal dominant non-syndromal hearing loss, Christine Petit. Chapter 23 Otosclerois, Frank Declau and Paul van de Hyning. Chapter 24 X-linked hearing loss, Han G Brunner. Chapter 25 The X-linked recessive progressive mixed hearing loss syndrom with perilymphatic gusher during stapes surgery (DFN3), Cpr WRJ Cremers. Chapter 26 Mitochondrially determined hearing impairment, Nathan Fischel-Ghodsian. Part V Management. Chapter 27 Genetic counselling for hearing impairment, Robert F Mueller. Chapter 28 Surgical counselling for hearing impairment, Robert F Mueller. Chapter 29 Surgery for congenital conductive and mixed hearing loss without atresia of the ear canal, Cor WRJ Cremers. Chapter 30 Rehabilitation of genetic hearing loss, Susan Bellman. Glossary. Reference. Index.

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Book SynopsisThis book presents muscular dystrophy (MD) as a group of genetic diseases with a worldwide occurrence of about 1 in 3,500 births that causes muscle wasting and weakening. It describes Duchenne MD as the most common type of MD, almost exclusively affecting males at a rate of about 1 in 5,000 boys, and eight rarer types of MD that are categorized by age of onset, muscles affected, disease progression, severity of symptoms, and health complications. The author describes how physical examination, muscle biopsy, medical imaging, and genetic testing is used to diagnose MD He further explains the underlying causes of the various types of MD as mutations in genes that encode proteins needed for the development, function, maintenance, and replacement of muscle cells and illustrates patterns by which they are inherited.There is no treatment that can reverse the progressive deterioration of muscles caused by MD, but the book offers insight into drug treatments and physical therapies that help maintain muscle strength and reduce health complications. It concludes with explanations of promising new ways to treat or perhaps cure MD, including experimental drugs, stem cell therapy, and gene therapy.

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Book SynopsisThis book describes newborn screening as a public health program for the early detection of genetic disorders. It presents the recommended uniform screening panel (RUSP), a list of genetic disorders recommended by the U.S. government for states to include in newborn screening programs. The author describes the categorization of RUSP genetic disorders, discusses the symptoms and health complications of examples from each category, and explains clinical laboratory tests used for newborn screening. The book explores the underlying molecular genetic causes of genetic disorders, and how this information is used for genetic testing during newborn screening and diagnosis. It presents the patterns of inheritance of monogenic genetic disorders, and uses hypothetical family scenarios to illustrate them. Treatments and therapies for selected RUSP genetic disorders are described that illustrate the benefits of early diagnosis. The book describes future prospects for the prevention, diagnosis, and treatment of genetic disorders detected by newborn screening, including experimental drug treatments, the possibility of newborn genome sequencing, and gene therapy.

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Book SynopsisThis book describes how obesity results from an imbalance between the intake of food energy and the expenditure of energy from physical activity and increases the risk of serious health problems including heart disease, stroke, osteoarthritis, and several types of cancer. Obesity is a global health problem that has reached epidemic levels. The worldwide prevalence of adult obesity is 13 percent of adults and 7 percent of children. The author explains how body mass index (BMI) can be used to screen for obesity, but that its diagnosis depends on clinical measurement of total body fat content and distribution. The book describes rare forms of obesity caused by a single gene or a genetic syndrome, and common obesity, a complex disease caused by multiple genetic and environmental risk factors. The book presents examples of obesity susceptibility genes and describes obesity genetic testing. It details how obesity can usually be treated with dietary changes, increased physical activity, and behavioral modification, but that people with extreme obesity or those who have serious health complications, require pharmaceutical or surgical interventions. Dr. Eckdahl discusses promising prospects for the treatment of obesity involving new pharmaceuticals, stem cell therapy, gene therapy, and fecal microbiota transplants.

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Book SynopsisThe book illuminates the complex problems in genetic studies of substance use and addiction. It provides a comprehensive overview that fills the gap in the literature and points out future directions.The book includes three sections that apply to any complex traits and disorders, particularly psychological and psychiatric. The first section covers the traits and phenotypes that are the target of genetic research in substance use and addiction. Following this, the second section analyzes the methods and results of biometric genetic studies in this area. The third section reviews research in gene mapping and epigenetics. Genetics of Substance Use is a first-of-its-kind monograph that presents contemporary solutions and methods for a wide range of researchers and practitioners across disciplines. Table of ContentsIntroduction Section 1. Substance use phenotyping Chapter 1. Substance use: disorders and continuous traits Chapter 2. Neurobiological systems in substance use Chapter 3. Psychological mechanisms of substance use Section 2. Biometric genetic studies in substance use Chapter 4. Twin studies Chapter 5. Family and adoption studies Section 3. Genomic studies in substance use Chapter 6. Gene mapping in complex disorders Chapter 7. Linkage and association studies Chapter 8. Epigenomic studies Conclusions

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Book SynopsisThis book entitled “Cancer Stem Cell Markers and Related Network Path-ways” is about cancer stem cell (CSC) markers and the molecular network pathways. CSCs play an important role in the cancer drug resistance, metastasis and recurrence. Epithelial-mesenchymal transition (EMT) is closely related to CSC phenotype.This book covers various aspects of the molecular networks related to CSCs including the important phenotypic change such as EMT. Readers will discover the importance of the identification of CSC markers and EMT-related molecules in CSC network pathways.The CSC signaling pathways and EMT molecular network pathways attract researchers in the field to define the cancer therapeutic targets. Cancer environment is important in the acquisition of CSC phenotype in cells. The revealing of this CSC mystery is across 7 chapters. The topic of this book is particularly relevant to research in the field of cancer and stem cells, as well as the network pathways. We hope that this book helps the readers to be interested in understanding why the CSC concept is important and attractive.Table of Contents​1. Epithelial-mesenchymal transition and cancer stem cellsby Shihori Tanabe2. The transcription factors Zeb1 and Snail induce cell malignancy and can-cer stem cell phenotype in prostate cells, increasing androgen synthesis ca-pacity and therapy resistanceby Fernanda López-Moncada, Enrique A Castellón, Héctor R Contreras3. ERBB signaling pathway in cancer stem cellsby Ghmkin Hassan and Masaharu Seno4. Functional and molecular characters of cancer stem cells through devel-opment to establishmentby Said M Afify, Ghmkin Hassan, Hiroko Ishii, Sadia Monzur, Hend M Nawara, Amira Osman, Hagar A Abu Quora, Mona Sheta, Maram H Zah-ra, Akimasa Seno, Masaharu Seno5. Microenvironment in cancer stem cellsby Shihori Tanabe6. Cancer stem cells contribute to drug resistance in multiple different waysby Maram H Zahra, Hend M Nawara, Ghmkin Hassan, Said M Afify, Akimasa Seno, Masaharu Seno7. Abnormal glycosylation in cancer cells and cancer stem cells as a thera-peutic targetby Sabina Quader, Shihori Tanabe, Horacio Cabral

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Book SynopsisPart I Introduction.- 1. Historical Perspective of Human Ring Chromosomes.- 2. Diagnostic Methods for Ring Chromosomes.- 3. Genetic Databases and Online Ring Chromosome Registry.- 4. Advocate Activities and Patient-centered Approaches.- Part II Constitutional Ring Chromosomes.- 5. Ring Chromosome 1.- 6. Ring Chromosome 2.- 7. Ring Chromosome 3.- 8. Ring Chromosome 4.- 9. Ring Chromosome 5.- 10. Ring Chromosome 6.- 11. Ring Chromosome 7.- 12. Ring Chromosome 8.- 13. Ring Chromosome 9.- 14. Ring Chromosome 10.- 15. Ring Chromosome 11.- 16. Ring Chromosome 12.- 17. Ring Chromosome 13.- 18. Ring Chromosome 14.- 19. Ring Chromosome 15.- 20.- Ring Chromosome 16.- 21. Ring Chromosome 17.- 22. Ring Chromosome 18.- 23. Ring Chromosome 19.- 24. Ring Chromosome 20.- 25. Ring Chromosome 21.- 26. Ring Chromosome 22.- 27. Ring Chromosome X.- 28. Ring Chromosome Y.- 29. Supernumerary Small Ring Chromosomes.- 30. Ring Chromosomes from Patients' Perspective.- Part III Somatic Ring Chromosomes.- 31. Acquired Ring Chromosomes in Tumors of Hematopoietic and Lymphoid Tissues.- 32. Acquired Ring Chromosomes in Solid Tumors.- Part IV Ring Chromosome Research.- 33. Molecular Mechanisms of Ring Chromosome Formation and Instability.- 34. iPSC Models of Ring Chromosomes, Genome Editing, and Chromosome Therapy.- 35. Genetic Mosaic Analysis in Model Organisms.

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Book SynopsisEver since the International Human Genome Project achieved its extraordinary goal of sequencing and mapping the entire human genome, represented by approximately 3 billion base pairs, with its far-reaching implications for understanding the causes of human genetic disorders and their diagnosis, progress in the field has not slowed down. In the fifth edition of the bestselling Color Atlas of Genetics, readers will be rewarded with a complete and current overview of the field, with an emphasis on the interface between fundamental principles and practical applications in medicine and the role of signaling pathways in causing diseases. Using the acclaimed Flexibook format designed for easy visual learning and retention, the atlas is invaluable for students, clinicians, and scientists interested in staying up to date in this fast-evolving area. New fully illustrated topics in the revised fifth edition of the atlas include: An overview of disorders resulting from structural changes of the genome (genomic disorders) Abnormal imprinting patterns Examples of impaired signal pathways (laminopathies, fibrillinopathies, cohesinopathies, and others) The CRISPR-Cas system Genetic features of the aging processes Disorders due to rearrangements of chromatin in the cell nucleus, and others With almost 200 stunning color plates explained by concise texts on the opposite pages, including tables presenting useful data, a glossary of terms, key references, and online resources, the atlas presents clear and accessible concepts. It is an excellent refresher for investigators in any field of medicine or biology.Table of ContentsIntroduction Fundamentals Genomics Genetics in Medicine

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Book SynopsisDesigned as an aid to students in Genetics counseling classes and professionals interested in honing their skills, Facilitating the Genetic Counseling Process will guide the reader through the why's and how's of assisting clients with these complex issues. The authors' collective years of both teaching students and counseling clients is reflected in the clear, practical approach of this manual.Trade Review“This book is a great tool for genetic counseling faculty members and should be included in the genetic counseling curriculum. … This is a well-planned book and it presents the information well.” (Luis F Escobar, Doody's Book Reviews, February, 2019)​Table of ContentsGuidelines for Book Users: Instructors, Supervisors, and Students.- Overview of Genetic Counseling: History of the Profession and the Reciprocal Model of Practice.- Listening to Patients: Attending Skills.- Listening to Patients: Primary Empathy Skills.- Gathering Information: Asking Questions.- Structuring Genetic Counseling Sessions: Initiating, Contracting, Ending, and Referral.- Collaborating with Patients: Providing Information and Facilitating Patient Decision Making.- Responding to Patient Cues: Advanced Empathy and Confrontation Skills.- Patient Factors: Resistance, Coping, Affect, and Styles.- Providing Guidance: Advice and Influencing Skills.- Counselor Self-Reference: Self-Disclosure and Self-Involving Skills.- Genetic Counseling Dynamics: Transference, Countertransference, Distress, Burnout, and Compassion Fatigue.- Professionalism: Ethically-Based Reflective Practice.- Appendix A: ACGC (2015) Practice-Based Competencies.- Appendix B: NSGC Code of Ethics (2017).

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Book SynopsisHere is a broad overview of the central topics and issues in molecular biology and molecular medicine, with up-to-the minute information about developments in the field including pharmacogenics and pharmacoproteomics, gene therapy and gene regulation. Presented in an accessible A to Z format, the Encyclopedia’s more than 2000 entries are written by leading experts in genomics and proteomics. The entries comprise in-depth essays, illustrated with full-color figures, and presented in a lucid style that will appeal to both experts and interested lay people. Trade ReviewFrom the reviews: "A book like this is thoroughly interesting to dip into … . A lot of work has gone into these volumes-into the concept, the writing, the editing and the design and the design and production. They are a quality job in all aspects. I just hope they don’t simply sit on library shelves looking impressive, but get taken out and read." (A. Read, Human Genetics, Vol. 121, 2007)

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Book SynopsisGesellschaft und Konsens sind zwei Begriffe, die sich nur widersprüchlich aufeinander beziehen lassen. Einen gesellschaftlichen Konsens hat es nie gegeben. Vielmehr offenbart die Rede von der Konsensgesellschaft eine Ideologie, die alles Politische negiert und unter dem Schleier der objektiven und interessensneutralen Wahrheitsfindung verdeckt. Eine demokratische Gesellschaft muss indes reif sein, für jenen Dissens der durch Diskurs nicht aufgelöst werden kann. Am Beispiel der Diskussion über die Stammzellenforschung macht Carsten Stark deutlich, dass hier gesellschaftliche Konstruktionen wirken, die von Prinzip her gegensätzliche Rationalitäten abbilden. Es handelt sich dabei um gesellschaftliche Strukturen der Reduktion von Kontingenz und der Reduktion von Ambivalenz. In einem analytischen Sinne rücken dabei die Institutionen von Profession und Religion in den Fokus.Table of ContentsStammzellenforschung. Eine Frage an die Demokratie?.- Grundlegung einer Wissenssoziologie des Politischen.- Der politische Handlungsraum am Beispiel der Stammzellenforschung.- Der Diskurs zur Stammzellenforschung und seine Positionen.- Gesellschaftstheorie und Ideologie des Funktionalismus.- Profession und Religion.- Zur Funktion des Staates.

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Book SynopsisThis 7th edition is a milestone in the series of Inborn Metabolic Diseases (IMD), recognised as the standard textbook for professionals involved in the diagnosis and management of IMD.Within the last 5 years a Copernican revolution in our understanding of IMD has changed the definition, concepts, paradigms, and classification. This new edition now extends the concept of IMD to include those disturbances in molecular machinery diagnosed by molecular techniques but currently without measurable metabolic markers.The book presents a clinical and biochemical approach to the diagnosis and management of IEM with many diagnostic algorithms for patients of all ages and with a particular focus on neurological presentations. It includes separate, comprehensive sections on IEM classified in 3 major pathophysiological categories: disorders of energy metabolism, both mitochondrial and non-mitochondrial; small molecule disorders, mostly diagnosed with metabolic markers; and complex molecules disorders, mostly diagnosed with molecular techniques.Two new chapters were added, describing around 600 disorders of nucleic acid metabolism, tRNA metabolism, ribosomal biogenesis, and cellular trafficking.Table of ContentsI Diagnosis and treatment: General principles: 1 Clinical Approach to Inborn Errors of Metabolism in Paediatrics.- 2 Inborn Errors of Metabolism in Adults: A Diagnostic Approach to Neurological and Psychiatric Presentations.- 3 Diagnostic Procedures.- 4 Emergency Treatments II Disorders of Energy Metabolism 5 The Glycogen Storage Diseases and Related Disorders.- 6 Congenital Hyperinsulinism and Genetic Disorders of Insulin Resistance and Signalling.- 7 Disorders of Glycolysis and the Pentose Phosphate Pathway.- 8 Disorders of Glucose and Monocarboylic Acid Monocarboxylate Transporters.- 9 Disorders of Creatine Metabolism.- 10 Disorders of the Oxidative Phosphorylation .- 11 Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle.- 12 Disorders of Mitochondrial Fatty Acid Oxidation and Riboflavin Metabolism.- 13 Disorders of Ketogenesis and Ketolysis III Small Molecule Disorders 14 Disorders of Galactose Metabolism.- 15 Disorders of Fructose Metabolism.- 16 Hyperphenylalaninaemia.- 17 Disorders of Tyrosine Metabolism.- 18 Branched-chain Organic Acidurias/Acidaemias.- 19 Disorders of the Urea Cycle and Related Enzymes.- 20 Disorders of Sulfur Amino Acid Metabolism.- 21 Disorders of Ornithine and Proline Metabolism.- 22 Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism.- 23 Nonketotic Hyperglycinaemia and Lipoate Deficiency Disorders.- 24 Disorders of Glutamine, Serine and Asparagine Metabolism.- 25 Disorders of Amino Acid Transport at the Cell Membrane.- 26 Cystinosis.- 27 Biotin-Responsive Disorders.- 28 Disorders of Cobalamin and Folate Transport and Metabolism.- 29 Disorders of Thiamine and Pyridoxine Metabolism.- 30 Disorders of Neurotransmission.- 31 Disorders of Peptide and Amine Metabolism.- 32 Disorders of Purine and Pyrimidine Metabolism.- 33 Disorders of Haem Biosynthesis.- 34 Disorders in the Transport of Copper, Iron, Magnesium, Manganese, Selenium and Zinc IV Complex Molecule Disorders and Cellular Trafficking Disorders 35 Disorders of intracellular triglycerides and phospholipid metabolism.- 36 Inborn Errors of Lipoprotein Metabolism Presenting in Childhood.- 37 Disorders of Isoprenoid/Cholesterol Synthesis.- 38 Disorders of Bile Acid Synthesis.- 39 Disorders of Nucleic Acid Metabolism, tRNA Metabolism and Ribosomal Biogenesis.- 40 Disorders of Sphingolipid Synthesis, Sphingolipidoses, Niemann-Pick Disease Type C and Neuronal Ceroid- Lipofuscinoses.- 41 Glycosaminoglycans and Oligosaccharides Disorders: Glycosaminoglycans Synthesis Defects, Mucopolysaccharidoses, Oligosaccharidoses and Sialic Acid Disorders.- 42 Inborn Errors of Non-Mitochondrial Fatty Acid Metabolism Including Peroxisomal Disorders.- 43 Congenital Disorders of Glycosylation, Dolichol and Glycosylphosphatidylinositol Metabolism.- 44 Disorders of Cellular Trafficking V Appendices 45 Medications Used in the Treatment of Inborn Errors

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Book SynopsisThe new, fully updated edition of this successful book, brings together the combined experience of a leading dedicated unit over 25 years in delivering expert medical and surgical care to children with DSD (Disorders Differences of Sex Development) in a holistic environment. It documents the most recent advances in the molecular biology and embryology of sex development, and describes each variation in detail. The main focus of the book is on patients with variations with their anatomy and hormone function. New chapters describe the developments in the field in terms of definitions and incidence, the mental health of DSD patients and discuss the perspectives of patients families and support groups. The clinical presentation and approach to diagnosis are described both for babies and for children presenting later in childhood or at adolescence. The chapters on management highlight all the latest knowledge and include the shared wisdom of the authors on current controversies, such as the timing of surgical treatment. Finally, the authors describe their short-, medium-, and long-term outcomes, which demonstrate the strengths of holistic team management.Table of ContentsCurrent debate about definitions and the incidence of DSD.- The Molecular Basis of Gonadal Development and DSD .-Embryology of the Human Genital Tract.- Hormones Regulating Sex Development.- Questions About Gender: Children with Atypical.-Abnormal Embryology in DSD.- 46,XX DSD.- 46,XY DSD.- Mixed Sex Chromosome and Ovo-Testicular DSD.- Non-hormonal DSD.- Multiple Malformation Syndromes in DSD .- The Neonate with Ambiguous Genitalia.- DSD Later in Childhood .- The Adolescent or Young Adult with DSD .- Imaging in DSD.- Ethical Principles for the Management of Children with Disorders of Sex Development: A Systematic Approach for Individual Cases.- The Medical Management of Disorders of Sex Development.- Surgical Treatment in Infancy.- Laparoscopy for DSD.- The Family.- Genetic Counselling.- Cultural Differences and Controversies about Timing of Management.- A Long-Term Outcome Study of DSD in Melbourne.- Medical Management of Adolescents and Young Adults.- Gynaecological Management.- Psychological Management in Adolescence and Beyond.- Short-, Medium- and Long-Term Outcomes Following Surgery for Disorders of Sex Development at Royal Children’s Hospital.- Long-Term Outcome of Disorders of Sex Development: A World View.- Psychosocial issues and mental health in DSD patients.- Complete Androgen Insensitivity Syndrome: A Guide for Parents and Patients.- Perspectives of patients, families and support groups.- Additional Material .-Video .-Index.

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Book SynopsisThis highly informative and clearly written book presents the basic science and the latest data on hereditary breast and ovarian cancer (HBOC) to provide an up-to-date and holistic overview of the disease. It starts off by presenting the molecular mechanisms, genetic testing and counseling, and variants of unknown significance (VUS) to help readers understand the contemporary interpretation of the disease. Further chapters focus on the surveillance, diagnosis and treatment, including chemoprevention, risk reduction and drug development based on molecular mechanisms. It also includes a chapter on the latest findings from the HBOC database, ethical issues and the parp inhibitors, and discusses innovative thinking to manage and understand the disease. Hereditary Breast and Ovarian Cancer - Molecular Mechanism and Clinical Practice offers breast surgeons, medical oncologists, gynecological oncologists and genetic counselors a comprehensive overview of the disease. Providing insights into recent scientific findings and further avenues for investigation, it is also a thought-provoking and informative read for researchers and scholars.Table of Contents1 History, Advancements, and Future Strategies 2 Molecular basis of BRCA1 and BRCA2 - Homologous recombination deficiency and tissue-specific carcinogenesis 3 Genetic Testing 4 Variants of uncertain significances in hereditary breast and ovarian cancer 5 Genetic counseling in Hereditary Breast and Ovarian Cancer 6 Hereditary Breast Cancer 7 Hereditary Ovarian Cancer 8 Risk-Based Breast Cancer Screening 9 Chemoprevention for Breast Cancer 10 Chemoprevention for Ovarian Cancer 11 Risk-Reducing Mastectomy (RRM) 12 Risk-reducing salpingo-oophorectomy (RRSO) 13 Panel Testing 14 Germline Findings through Precision Oncology for Ovarian Cancer 15 Germline Findings from Genetic Testing for Breast Cancer 16 Hereditary Breast and Ovarian Cancer (HBOC) Database 17 Ethical Issues: Overview in Genomic analysis and Clinical Context 18 PARP Inhibitors-Mechanism of action 19 PARPi - Efficacy in Hereditary Breast Cancer 20 Efficacy of Poly ADP-Ribose Polymerase Inhibitors for Hereditary Ovarian Cancer

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Book SynopsisThis book is immensely useful for graduate students as well as researchers to understand the basics of molecular biology and Recombinant DNA Technology. It provides a comprehensive overview of different approaches for the synthesis of recombinant proteins from E. coli including their cloning, expression and purification. Recent advances in genomics, proteomics, and bioinformatics have facilitated the use of Recombinant DNA Technology for evaluating the biophysical and biochemical properties of various proteins. The book starts with an introductory chapter on gene cloning, protein expression and purification and its implication in current research and commercial applications. Each chapter provides a lucid set of principles, tools and techniques for both students and instructors. The protocols described have been aptly exemplified, and troubleshooting techniques have been included to aid better understanding. Moreover, the set of questions at the end of each chapter have been particularly formulated to help effective learning.Table of ContentsModule 1_Introduction.- Chapter 1. History of recombinant DNA technology.- Chapter 2. Overview of technology.- Chapter 3. It’s impact on research.- Module 2_Cloning basics.- Chapter 3. c-DNA library.- Chapter 4. PCR amplification.- Chapter 5. Restriction Digestion.- Chapter 6. Ligation.- Chapter 7. Colony screening.- Chapter 8. Transformation.- Chapter 9. Trouble-shooting.- Chapter 10. Problems.- Module 3_Choice of vectors (expression and cloning).- Chapter 11. Different types of vectors.- Chapter 12. Promoters.- Chapter 13. Antibiotic selection.- Chapter 14. Sequence confirmation.- Chapter 15. Trouble-shooting.- Chapter 16. Problems.- Module 4_Transformation and protein expression.- Chapter 17. Competent cell preparation.- Chapter 18. Transformation methods.- Chapter 19. Different bacterial strains (E. coli, Pseudomonas, Streptomyces).- Chapter 20. Optimizing protein expression (different inducers, temperature, concentration of inducers).- Chapter 21. Expression in insect cells.- Chapter 22. Trouble-shooting.- Chapter 23. Problem. Module 5_Protein purification.- Chapter 24. Lysis and extraction.- Chapter 25. Checking solubility and designing purification strategies.- Chapter 26. Databases and tools to determine physico-chemical properties of protein.- Chapter 27. Salting out and salting in methods.- Chapter 28. Dealing with proteins in inclusion bodies.- Chapter 29. Choice of buffer and dialysis.- Chapter 30. Overview of chromatography.- Chapter 31. Choice of chromatographic techniques with specific examples.- Chapter 32. Trouble-shooting.- Chapter 33. Problems.- Module 6_Affinity chromatography.- Chapter 34. Overview.- Chapter 35. His6.- Chapter 36. Cobalt.- Chapter 37. Streptavidin.- Chapter 38. MBP.- Chapter 39. GST.- Chapter 40. Trouble-shooting.- Chapter 41. Problems.- Module 7_Ion exchange chromatography.- Chapter 42. Overview.- Chapter 43. Cation exchange.- Chapter 44. Anion exchange.- Chapter 45. Choice of different combination of chromatographic techniques with examples.- Chapter 46. Trouble-shooting.- Chapter 47. Problems.- Module 8_Gel filtration chromatography.- Chapter 48. Overview.- Chapter 49. Different columns.- Chapter 50. HPLC.- Chapter 51. FPLC.- Chapter 52. Trouble-shooting.- Chapter 53. Problems.- Module 9_Purification of difficult proteins.- Chapter 54. Insoluble protein purification.- Chapter 55. Toxic protein purification.- Chapter 56. Membrane protein purification.- Chapter 57. Trouble-shooting.- Chapter 58. Problems .- Module 10_Quantitation and characterization.- Chapter 59. Need for protein quantitation.- Chapter 60. Different methods (Bicinchoninic Acid (BCA), Bradford, Folin-Lowry, Kjeldahl, UV absorption).- Chapter 61. Calculation of protein concentration.- Chapter 62. Purity calculation.- Chapter 63. Trouble-shooting.- Chapter 64. Problems. Module 11_Characterizing recombinant proteins.- Chapter 65. Secondary structure (CD).- Chapter 66. Tertiary structure (CD, fluorescence).- Chapter 67. Functional studies (protease, kinase, phosphatase etc).- Chapter 68. Preliminary Biochemical assays.- Chapter 69. Trouble-shooting.- Chapter 70. Problems.

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Book SynopsisGene therapy has been regarded as a great potential for specific treatment of gene-related human diseases, such as cancer, genetic and epidemic diseases. Gene therapy refers to the biomedical technology that inserts normal or therapeutic exogenous genes into target cells to repair or replace defective genes in target cells, so as to achieve the purpose of treating diseases. Efficient gene delivery systems are the crucial roles for successful implementation of gene therapy. This book provides a platform for young scholars and students to systematically understand the preparation and characterization of the existing non-viral gene delivery systems, as well as providing a technology platform for clinical gene therapyTable of ContentsOverview on gene therapy.- Cationic liposome.- Functionalized peptide dendrimers.- Bioresponsive poly(amido amine)s.- Cationic polyphosphoesters.- Polysaccharide-based gene carriers.- Polypeptide-based gene carriers.- Fluorinated gene carriers.- Target gene delivery systems.- Cationic helical polypeptides.- Cyclic cationic polymers.- Cationic bolaamphiphile.- Chitosan-functionalized gene carriers.- Charge-reversal gene carriers.- Multifunctional envelope-type nanodevice.- Drug and gene co-delivery systems.- Oral delivery of gene therapy.- Gene therapy for brain diseases.

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Book SynopsisThis informative book discusses the latest research on the risk factors and therapeutics in dementia. WHO calls dementia a public health priority. Dementia manifests as a group of symptoms associated with decline in memory or other thinking skills and is severe enough to reduce a person's ability to perform everyday activities. It occurs frequently among elderly people, but it is not necessarily part of the normal aging process. The book has been divided into two broad sections. The first section reviews the risk factors involved in developing dementia, including various medical conditions, lifestyle choices, as well as genetics. The latter section describes various therapeutic interventions in dementia. Although there is no known cure for dementia, this book underlines the current treatment strategies that could momentarily reduce the symptoms and improve the quality of life of the patients. This book highlights the global effort to find better ways to halt the progression of dementia and develop novel therapeutic strategies. The book would be an interesting read for advanced graduate students and researchers working in the field of neuroscience, genetics, and medicine. It will generate good interest to neurologists, psychiatrists, geriatricians, cardiologists, internal medicine practitioners, epidemiologist, and public health workers.Table of ContentsRisk Factors § Apolipoprotein E (APOE) § Histone modifications, demethylation, and microRNA regulation § Triggering receptor expressed on myeloid cells 2 (TREM2) § Brain-derived neurotrophic factor (BDNF) § Bridging integrator 1 (BIN1) § Protein tyrosine phosphatase 1B (PTP1B) § Leptin signaling § Insulin signaling § Autophagic dysfunction § Ubiquitin-proteasome system dysfunction § Circadian dysfunction § Endoplasmic Reticulum Stress § Depression § Normal pressure hydrocephalus § Antiphospholipid antibodies § Sex hormones § Changes in blood factors § Infection-induced systemic inflammation § Microbiota § Abdominal visceral fat § Atypical microvascular morphology § Plasma exosomes spread § Changes in visual cortex § Obesity, dyslipidemia, hyperglycemia and hypertension § Environmental pollutions Therapeutic Interventions § NMDA receptor antagonists § Calcium channel blockers § Catecholamine § Statins § Immunotherapy § Quitting smoking § Physical activity § Diet and nutrition § Natural products as promising drug candidates § Nanotechnological applications § Electroacupuncture § Repetitive transcranial magnetic stimulation § Transcranial direct current stimulation § Reminiscence therapy § Reality orientation therapy § Bright-light therapy § Snoezelen multi-sensory stimulation § Behavioral therapy § Brain-computer interface applications § Music therapy § Hypoxic-hyperoxic training § Cognitive rehabilitation § Cognitive creativity § Stem cell research

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Book SynopsisThis book provides an overview of statistical concepts and basic methodology for the study of genetics of human traits and diseases. It attempts to provide a step-by-step description of problem identification, study design, methodology of data collection, data exploration, data summarization and visualization, and more advanced analytical methods for inferring genetic underpinnings of human phenotypes. The book provides codes in R programming language for implementation of most of the statistical methods described, which will enable practitioners to perform analysis of data on their own, without having to mold the data to fit the requirements of commercial statistical packages. Useful to anyone engaged in studies to understand and manage good health, the book is a useful guide for sustainable development of humankind. Primarily intended for practicing biologists especially those who carry out quantitative biological research, in particular, human geneticists, the book is also helpful in classroom teaching.Table of ContentsIntroduction to analysis of human genetic data.- Basic understanding of single gene expression data.- Basic probability theory and inference.- Analysis of single gene expression data.- Analysis of gene expression data in a dependent set up.- Tying genomes with disease.- Some extensions of genetic association study.- Exploring multivariate data.

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Book SynopsisThis book discusses the role of epigenetics in pathogenesis of different pulmonary diseases, including chronic obstructive pulmonary disease, lung cancer, pulmonary tuberculosis, idiopathic pulmonary fibrosis and pulmonary infections. It also explores post-translational modifications in DNA and histones for improving the understanding of lung diseases. This book helps in understanding the epigenetic mechanisms towards the development of novel diagnostic and therapeutic approaches. Further, the book provides insight into the underlying molecular mechanisms involved in the epigenetic regulation of inflammation, which may have novel implications in designing small molecule inhibitors that target the epigenetic machinery for the effective treatment of a variety of inflammation‑related diseases. This book is a valuable resource for academics, research and industry professionals working in respiratory biology.Table of ContentsChapter 1. Introduction to Lung Diseases.- Chapter 2. Introduction to Epigenetics.- Chapter 3._Epigenetic mechanisms in Inflammation.- Chapter 4. Epigenetic regulator of inflammatory gene expression.- Chapter 5. Epigenetics of Asthma.- Chapter 6_. Epigenetic optimization in chronic obstructive pulmonary disease (COPD.- Chapter 7. Epigenetics of Lung Cancer.- Chapter 8. Epigenetics of Pulmonary Tuberculosis.- Chapter 9. Epigenetics of Idiopathic Pulmonary Fibrosis.- Chapter 10. Epigenetics of influenza-A virus infection.- Chapter 11. Epigenetics of rhinovirus.- Chapter 12. Epigenetics of SARS-Cov2 (Covid-19).- Chapter 13. Epigenetics of Haemophilus Influenzae.- Chapter 14. Future Prospects and Challenges.- Chapter 15. Targeting epigenetics in pulmonary arterial hypertension. ​

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a huge range and FREE tracked UK delivery on ALL orders.

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a huge range and FREE tracked UK delivery on ALL orders.

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a huge range and FREE tracked UK delivery on ALL orders.

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a huge range and FREE tracked UK delivery on ALL orders.

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a huge range and FREE tracked UK delivery on ALL orders.

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Book SynopsisDNA testing and its forensic analysis are recognized as the gold standard in forensic identification science methods. However, there is a great need for a hands-on step-by-step guide to teach the forensic DNA community how to interpret DNA mixtures, how to assign a likelihood ratio, and how to use the subsequent likelihood ratio when reporting interpretation conclusions.Forensic DNA Profiling: A Practical Guide to Assigning Likelihood Ratios will provide a roadmap for labs all over the world and the next generation of analysts who need this foundational understanding. The techniques used in forensic DNA analysis are based upon the accepted principles of molecular biology. The interpretation of a good-quality DNA profile generated from a crime scene stain from a single-source donor provides an unambiguous result when using the most modern forensic DNA methods. Unfortunately, many crime scene profiles are not single source. They are described as mixedTable of Contents1: An Introduction and Review of DNA Profile Interpretation2: An Introduction to Statistics and Proposition Setting3: Assigning the LR: Single-Source Examples Population Genetics Models4: Application of the Binary LR for Mixtures5: LRs Considering Relatives as Alternate Contributors6: Probabilistic Genotyping: Semicontinuous Models7: Probabilistic Genotyping: Continuous Models8: Considerations on Validation of Probabilistic Genotyping SoftwareAppendix 1: Allele FrequenciesAppendix 2: Model Answers

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Book SynopsisGenomic technologies provide the means of diagnosis and management of many human diseases. Without insights from cytogenetics, correct interpretation of modern high-throughput results is difficult, if not impossible. This book summarizes applications of cytogenetics and molecular cytogenetics for students, clinicians and researchers in genetics, genomics and diagnostics. The book combines the state-of-the-art knowledge and practical expertise from leading researchers and clinicians and provides a comprehensive overview of current medical and research applications of many of these technologies.KEY FEATURES Provides clear summaries of fluorescence in situ hybridization technologies and others Comprehensively covers established and emerging methods Chapters from an international team of leading researchers Useful for students, researchers and cliniciansTable of ContentsSeries Preface. Preface. Acknowledgements. Editor. List of Contributors. Chapter 1 Cytogenetics and Chromosomics. Chapter 2 Banding Cytogenetics. Chapter 3 Generation of Microdissection-Derived Painting Probes from Single Copy Chromosomes. Chapter 4 FISH—An Overview. Chapter 5 FISH—Microscopy and Evaluation. Chapter 6 FISH—in Routine Diagnostic Settings. Chapter 7 FISH—in Leukemia Diagnostics. Chapter 8 FISH—in Tissues. Chapter 9 FISH—in Human Sperm and Infertility. Chapter 10 FISH—in Spontaneously Aborted Products of Conception. Chapter 11 FISH—Characterization of Chromosomal Alterations, Recombination, and Outcomes after Segregation. Chapter 12 Multicolor-FISH—Methods and Applications. Chapter 13 FISH—Centromere- and Heterochromatin-Specific Multicolor Probe Sets. Chapter 14 FISH—Detection of Individual Radio Sensitivity. Chapter 15 FISH—Detection of CNVs. Chapter 16 FISH—Interphase Applications Including Detection of Chromosome Instability (CIN). Chapter 17 FISH—Determination of Telomere Length (Q-FISH/CO-FISH). Chapter 18 FISH—in Three Dimensions—3D-FISH. Chapter 19 FISH—On Fibers. Chapter 20 FISH—and Single-Cell Gel Electrophoresis Assay (Comet Assay). Chapter 21 Molecular Karyotyping. Chapter 22 FISH—Mitochondrial DNA. Chapter 23 FISH—in Birds. Chapter 24 FISH—in Fish Chromosomes. Chapter 25 FISH—and the Characterization of Synaptonemal Complex. Chapter 26 RNA-FISH—on Lampbrush Chromosomes: Visualization of Individual Transcription Units. Chapter 27 FISH—in Insect Chromosomes. Chapter 28 FISH—in Plant Chromosomes. Chapter 29 FISH—and CRISPR/CAS9. Index.

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Book SynopsisSolving intractable biotechnological questions of evolution, medicine, and genetics is now easier due to methods permitting the rapid analysis of molecular sequence data. These advances have exposed ethical and policy concerns. How would genomic information be used and by whom? Should individuals be able to make decisions regarding their own genomic data? How accurate are these genetic tests and how should they be regulated? These and other ethical conundrums are the subject of this book. Bioethicists, biomedical policy experts and lawyers, physicians, nursing and allied health students as well as science educators will find this book helpful and engaging in exploring the complexities of modern evolutionary, genetic and biomedical data.Table of ContentsA General Introduction. Ethics. The Bioethics of Genetics. Law and Bioethics. Genes and Patents. Genetic Bioengineering. Gene Editing. Ethico-Regulatory Trends. Conclusions and Perspectives.

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