Medical genetics Books

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Book SynopsisThis book is one of the first scientific publications that the subject food combines with genetics and genomics and information provides about new options for prevention and management of disease. This complex interplay between genes, food and environment is not only a fascinating new field of research but a new vital area for maintaining health and adequate healthcare. The book gives the most recent knowledge about the effects on chronic diseases such as neurological and cardio vascular disorders and a number of rare metabolic disorders such as phenylketonuria (PKU and coeliac disease. The meaning for pregnancy and the first years of life is prominently described. The situation in developing countries (India) is discussed with proposals for structural improvements. The authors have written their contributions on request of patient organisations who wish a scientific basis for health policy and action in this field. The book will be published under auspices of the World Alliance of Organisations for the Prevention of Birth Defects.

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Book Synopsis, For the most part we. the haemophiliacs present at this Congress. have come from the great metropolitan centres with their advanced medical and social programmes for sufferers of haemophilia. We. the fortunate from the haemophilia oasis. have much to learn from each other. This is important. but even more important is the urgency to convey your knowledge. your skills. your experience and your dedication to the haemophiliacs in the desert: 'We can only begin to understand the condition. the life of a sufferer. by comparing him to a soldier in the trenches of World War I. In the trenches the soldier seldom forgets that the next moment may bring death or crippling. The haemophiliac is literally in the trenches. The soldier may be spared injury. but pain awaits the haemophiliac. Fear. moreover, is paramount to the pain. As in the trenches. the anxiety can be more oppressive than the wound. Waiting to go over the top imposes a greater strain than the actual charge. For the soldiers that survived World War I in the trenches. 4 years seemed eternity; the haemophiliac never leaves the battlefield: Opening Address, Frank Schnabel. World Federation of Hemophilia. Copenhagen. June 25th. 1963. War can come to an oasis, peace can come to the trenches. With this book, Dr Peter Jones has joined the international struggle. Carefully, concisely and cogently. the text offers a grand strategy. With allies like Dr Jones we will, one day, achieve victory. Frank Schnabel, Chairman.Table of Contents1. The body—an introduction to structure and function.- 2. Bleeding and clotting.- 3. The causes of bleeding disorders.- 4. Bleeding episodes.- 5. Treatment 1—therapeutic materials.- 6. Treatment 2—treatment of bleeds; home therapy.- 7. Treatment 3—physiotherapy; aids; dental care.- 8. How a major operation is conducted in safety.- 9. Activities and precautions.- 10. Education and employment.- 11. Sex and family planning.- 12. Past, present and future.- Appendix: Aspirin and paracetamol.- Acknowledgements.

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Book SynopsisThe focus of this book is to introduce up-to-date information on applications and practical use of RNA for agriculture, biotechnology and medicine. It provides unique ideas, tools, and methods in detail from a variety of scientific and technical disciplines. RNA science has progressed enormously in recent decades, and vast amounts of information on RNA functions and their regulatory mechanisms are becoming available. Such a progress opened the door to an age of practical application of RNA in many fields including agriculture, plant science, medical science, brewing and fermentation technology, and material production. This book inspires its readership and contributes to not only expansion in application of RNA but also to basic research. Table of ContentsList of titles and authors (as of 24 Aug 2016) 1. Gene expression system that can escape from translational repression caused by brewing-related stress Shingo IZAWA 2. Bacterial cellular engineering through interspecies exchange of 16S rRNA in Escherichia coli ribosome. Kentaro MIYAZAKI 3. Development and application of the excellent protein synthesis technique with riboswitches in microorganisms Takahiro YAMAUCHI and Naoki SUGIMOTO 4. Cell Reprogramming by Lactic Acid Bacteria. Kunimasa OHTA 5. Novel detection system of mycotoxin using aptamer Yuji MORITA 6. Rational design of artificial riboswitches Atsushi OGAWA 7. mRNA engineering as a tool for controlling mammalian cells in medical applications Kei ENDO and Hirohide SAITO 8. Modulation of abnormal splicing by small chemical compounds in RNA diseases Naoyuki KATAOKA 9. Protein production system by innovating mRNA export Seiji MASUDA 10. PPR protein and the engineering Takahiro NAKAMURA 11. Long noncoding RNAs and their applications Tomohiro YAMAZAKI 12. Long non-coding RNA as new diagnostic and therapeutic targets Eleonora LEUCCI 13. Riboswitches and ribozymes as RNA-based modular tools to control gene expression Yoshiya IKAWA and Shigeyoshi Matsumura 14. Applications of CRISPR/Cas9 genome editing for functional characterization of RNA helicases Jerry PELLETIER 15. Application of systemic TGS on plant breeding Songling BAI 16. Theoretical and applied epigenetics in plants Yuhya WAKASA, Taiji KAWAKATSU, and Fumio TAKAIWA

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Book SynopsisThe term epigenetics describes regulatory and information storing mechanisms of specific genes that do not involve any change of their DNA sequence. Epigenetics is closely related to the extensively folded state, in which the genome is packaged, known as chromatin. New genomic tools nowadays allow the genome-wide assessment of, for example, chromatin states and DNA modifications, and led to the discovery of unexpected new epigenetic principles, such as epigenomic memory. This was the start of the field of epigenomics, the relation of which to human health and disease is discussed in this textbook. This book aims to summarize, in a condensed form, the role of epigenomics in defining chromatin states that are representative of active genes (euchromatin) and repressed genes (heterochromatin). Moreover, this book discusses the principles of gene regulation, chromatin stability, genomic imprinting and the reversibility of DNA methylation and histone modifications. This information should enable a better understanding of cell type identities and will provide new directions for studies of, for example, cellular reprograming, the response of chromatin to environmental signals and epigenetic therapies that can improve or restore human health. In order to facilitate the latter, we favor a high figure-to-text ratio following the rule “a picture tells more than thousand words”. The content of the book is based on the lecture course “Molecular Medicine and Genetics” that is given by one of us (C. Carlberg) in different forms since 2002 at the University of Eastern Finland in Kuopio. Thematically, this book is located between our textbooks “Mechanisms of Gene Regulation” (ISBN 978-94-017-7741-4) and “Nutrigenomics” (ISBN 978-3-319-30415-1), studying of which may also be interesting to our readers. The book is sub-divided into three sections and 13 chapters. Following the Introduction (section A), section B will explain the molecular basis of epigenomics, while section C will provide examples for the impact of epigenomics in human health and disease. The lecture course is primarily designed for Master level students of biomedicine, but is also frequented by PhD students as well as by students of other bioscience disciplines. Besides its value as a textbook, Human Epigenomics will be a useful reference for individuals working in biomedicine.Table of ContentsWhat is epigenomics?.- Methods and applications of epigenomics.- The structure of chromatin.- DNA methylation.- The histone code.- Chromatin modifiers.- Chromatin remodelers and organizers.- Embryogenesis and cellular differentiation.- Population epigenomics and aging.- Cancer epigenomics.- Neuroepigenetics.- Epigenomics of immune function.- Nutritional epigenomics.

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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 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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Book Synopsis

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Book Synopsis

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Book Synopsis

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