Medical genetics Books
Murphy & Moore Publishing New Insights Into DNA Damage and Repair
Book Synopsis
£115.73
Murphy & Moore Publishing Pharmacogenomics in Drug Discovery and
Book Synopsis
£112.26
Murphy & Moore Publishing Microrna: Regulation and Clinical Applications
Book Synopsis
£113.72
Cosimo Classics Inquiries into Human Faculty and its Development
£15.60
Amazon Digital Services LLC - Kdp Il Libro Della Purificazione
£29.95
Helen Culliver It was not supposed to be this way Mum
£40.65
Astral International Pvt. Ltd. Forensic Genetics Vol 1
£116.96
IntechOpen Gene Regulation
Book SynopsisGenes store life data and information in genetic language. In accordance with the Central Dogma, life data are located in DNA sequences in the format of genes and the information is transcribed into transient molecules of RNA and finally the coding RNAs are translated into proteins. But the role of RNAs is pivotal. In other words, gene regulation (including expression or suppression) is an amazing and vital process that is composed of two central networks; DNAs and RNAs. Today, the principal and fundamental role of RNA molecules is revealed and it is known that the regulation of genes is directly controlled by DNA and RNA molecules. The diversity of RNAs in different cells and in particular Eukaryotic cells explains the importance of RNAs in gene regulation.
£95.00
IntechOpen Innovation in Osteogenesis Research
£107.10
Writing Dr The Small Things
£12.34
Momentum Press Genetics and Human Behavior
Book SynopsisThis book will look at behavior in a different way. Have you heard of the phrase nature vs nurture? Simply, it asks what influences our behavior? This has been a debated topic since early man. Nature is usually defined as what is given to us before we are born, specifically, as discussed in this text, genetics. Nurture means learning that we acquire from our environment–parents, friends, and other influences.In this book, we will look at the newest scientific work, how both genetics and environment effect how we behave. Science, specifically genetics, is now finding its way into all areas of everyday life, criminal law, politics, and how our brain is involved in our actions.
£40.80
True Vine Publishing Co My Menopause Moments
£15.05
Springer Nature Switzerland AG Fundamentals of RNA Structure and Function
Book SynopsisThis highly illustrated textbook provides an essential overview on RNA architecture and function, it offers insights into the RNA basics and also explains novel RNA technologies, such as CRISPR-Cas and their applications. In addition, the mRNA based vaccine technology, which has long been tested, also before the COVID-19 pandemic, is discussed and students receive a basic understanding of this important medical application.The textbook is written by Prof. Grover in collaboration with her students and has an easily accessible style. The book provides a great tool for young researchers and students in biology, biomedical engineering or biochemistry, looking for a compact introduction or refresher work on RNA, including the newest findings and technologies. It is an ideal starter to learn about several RNA specific topics and to research them further.Table of Contents1. RNA-Composition and Base Pairing.- 2. Architecture of RNA.- 3. Small Catalytic RNA.- 4. The Spliceosome: A Large Catalytic RNA.- 5. A Genomic Perspective on RNA.- 6. The mRNA and the New Vaccines.- 7. Riboswitches: Sensors and Regulators.- 8. Small Non-Coding RNA, miRNA in Gene Regulation.- 9. CRISPR-Cas Systems, The science and ethics of gene manipulation.- 10. Transcription.
£58.11
Springer Nature Switzerland AG Engineering Approaches to Sickle Cell Disease
£170.99
Springer-Verlag Berlin and Heidelberg GmbH & Co. KG Pränatale Diagnostik und Therapie in Ethik,
Book SynopsisDieses Buch gibt einen Überblick über die aktuellen Möglichkeiten der Präimplantationsdiagnostik, der pränatalen Diagnostik und die intrauterinen Behandlungsmöglichkeiten.Neben den invasiven Methoden wurden in den vergangenen Jahren immer mehr pränatale nicht-invasive Untersuchungsmethoden etabliert, die als großer Fortschritt in der Pränatalmedizin angesehen werden: Bluttest auf Trisomie 21 Array-CGH (vergleichende Gen Hybridisierung) Ultraschall Weiterhin nehmen auch die Möglichkeiten intrauteriner Therapien zu: Chirurgische Eingriffe Medikamentöse Behandlungen Herausgeber und Autoren stellen nicht-invasive und invasive Methoden vor. Sie setzen sich neben der Beschreibung der Methoden kritisch mit ethischen und rechtlichen Aspekten auseinander und diskutieren Möglichkeiten und Grenzen.Trade Review“... Das Buch beschreibt sehr gut die Auswirkungen der modernen Pränataldiagnostik auf unser heutiges Leben aus medizinischer, ethischer und rechtlicher Sicht ...“ (Nicole Ferst, in: biomed Austria, Heft 1, 2015, S. 24)“... Es gibt einen breit angelegten Überblick über die aktuellen Möglichkeiten der Pränatalmedizin, sowohl die(nicht-invasive) Diagnostik als auch intrauterine Behandlungsmöglichkeiten betrefend, und richtet sich an Gynäkologen und Geburtshelfer, Pränatalmediziner,Perinatologen, Molekularmediziner, Genetiker, Ethiker und alle interessierten Personen ...” (in: BeB Informationen, Heft 54, Dezember 2014)Table of ContentsEinleitung.- Stand der Medizin: Ultraschalldiagnostik, Pränataldiagnostik in der Praxis.- Intrauterine fetale Chirurgie.- Ethische, soziale und rechtliche Fragen: Fetomaternale Operationen: Ethische Aspekte bei der Einführung innovativer Verfahren.- Ethische Probleme der Pränataldiagnostik: zur Ethik der Inanspruchnahme aus eudaimonistischer Perspektive.- Vorgeburtliches Leben - Rechtliche Überlegungen zur genetischen Pränataldiagnostik.- Pränatale Diagnostik - Zwischen Angebot und Nachfrage: Die Inanspruchnahme vorgeburtlicher Diagnostik: Entwicklungen, Motive und Emotionen.- Ein kritischer Zwischenruf zur Marktdynamik nichtinvasiver Pränataldiagnostik .- Konsequenzen für die Gestaltung des Gesundheitssystems: Interprofessionelle Kooperation im Kontext von Pränataldiagnostik.
£64.99
Clube de Autores Toda A Depressão Tem Tristeza Nem Toda A Tristeza É Depres
£13.93
Meta Brasil Crspreds
£12.44
Brill Governing, Protecting, and Regulating the Future of Genome Editing: The Significance of ELSPI Perspectives
Book SynopsisThis edited collection examines the ethical, legal, social and policy implications of genome editing technologies. Moreover, it offers a broad spectrum of timely legal analysis related to bringing genome editing to the market and making it available to patients, including addressing genome editing technology regulation through procedures for regulatory approval, patent law and competition law. In twelve chapters, this volume offers persuasive arguments for justifying transformative regulatory interventions regarding human genome editing, as well as the various legal venues for introducing necessary or desirable changes needed to create an environment for realizing the potential of genome editing technology for the benefit of patients and society.
£63.20
In Tech Crop Production Technologies
£113.05
In Tech Senescence
£152.10
£132.05
Springer Nature Switzerland AG RNABased Cancer Therapeutics
£170.99
Regency Publishing Co. A.I. Cancer Timebomb
£30.39
Doreen Kaine The Shunt Brothers
£16.49
Amazon Digital Services LLC - Kdp Secretary Bird Handbook
£13.59
Elsevier Science Publishing Co Inc Clinical Ophthalmic Genetics and Genomics
Book SynopsisTable of ContentsSection I. Genomics and the eye 1. Genetic disorders and genetic variants 2. Genetic testing techniques 3. Genetic variant interpretation 4. Genetic counselling and family support 5. Syndromic conditions and the eye 6. Ophthalmic phenotyping. Electrophysiology 7. Ophthalmic phenotyping. Imaging 8. Gene therapy and treatment trials Section II. Genetic disorders affecting the anterior segment 9. Genetic disorders affecting the cornea 10. Anterior segment developmental disorders 11. Cataract 12. Ectopia lentis Section III. Genetic disorders affecting the posterior segment 13. Genetic disorders affecting the retina, choroid and RPE 14. Familial vitreoretinopathies 15. Genetic disorders affecting the optic nerve Section IV. Genetic disorders affecting both the anterior and posterior segment 16. Developmental eye disorders 17. Aniridia 18. Albinism Section V. Genetic disorders affecting ocular motility 19. Infantile nystagmus 20. Congenital cranial dysinnervation disorders 21. Progressive external ophthalmoplegia Section VI. Tumour predisposition syndromes 22. Phakomatoses 23. Naevoid basal cell carcinoma syndrome 24. Congenital hypertrophy of retinal pigment epithelium (CHRPE) 25. Retinoblastoma
£141.30
Rowman & Littlefield How to Build a Better Human
Book SynopsisMedicine has recently discovered spectacular tools for human enhancement. Yet to date, it has failed to use them well, in part because of ethical objections. Meanwhile, covert attempts flourish to enhance with steroids, mind-enhancing drugs, and cosmetic surgeryall largely unstudied scientifically. The little success to date has been sporadic and financed privately. In How to Build a Better Human, prominent bioethicist Gregory E. Pence argues that people, if we are careful and ethical, can use genetics, biotechnology, and medicine to improve ourselves, and that we should publicly study what people are doing covertly. Pence believes that we need to transcend the two common frame stories of bioethics: bioconservative alarmism and uncritical enthusiasm, and that bioethics should become part of the solutionnot the problemin making better humans.Trade ReviewHuman enhancement is an important topic. However, too many authors dwell on improbable scenarios, such as genetic engineering of super-babies. By contrast, this book tackles the real ethical dilemmas that our society faces today. Is it wrong for healthy college students to boost academic performance with Ritalin and similar drugs? Is increased longevity a bane or a boon? How can simple interventions like good nutrition and vaccinations produce children who are not only healthier but smarter? Professor Gregory Pence uses science, logic, and ethics to analyze these and many other topics. Along the way, he explains why we need not fear designer babies and other Brave New World scenarios. Legislators and other policymakers should read this timely and fascinating book so that they will know what to regulate—and what to leave alone -- Kerry Lynn Macintosh, Santa Clara UniversityFrom Frankenstein to GATTACA innovative biomedical technologies have been portrayed as bogeymen and dystopias. Bringing commonsense to bear on subjects often misrepresented by enthusiasts and alarmists, bioethics professor Gregory Pence, author of Whose Afraid of Human Cloning, clarifies the science and dispels the hype and paranoia surrounding the bioethics of everyday life. He offered reasonable answers to such questions as: Should I use life extending medical or mind enhancing drugs? Is there anything wrong with extending peoples' lives? Should I vaccinate my children? Is it OK to take anti-depressants? Is there something to fear from the new genetics or from stem cell research? How to Build a Better Human provides astute and invaluable advice on these issues and is without a doubt the best "How To" book ever published in bioethics. -- Robert Baker, Union Graduate College, FiT PublishingGregory E. Pence has managed to wed nuance, rigor and wit in the service of one of the thorniest issues in bioethics. The debate over human enhancement is too often shaped by ideologues and zealots – and too infrequently informed by the kind of thoughtful and enjoyable analysis found in How to Build a Better Human. -- Kenneth W. Goodman, University of MiamiTable of ContentsPreface Part I—Competent Adults Chapter 1: What if Your Virtual Life Surpasses Your Real Life? Chapter 2: Lessons from Bioethics’ History Chapter 3: Expanding the Mind with Drugs Chapter 4: Building Better Female Bodies Chapter 5: Building Better Male Bodies Chapter 6: Is it Moral to Feel Better than Well? Chapter 7: Practical Ways to Build a Longer Life Chapter 8: Is It Wrong to Live to a Hundred? Chapter 9: Personalized Genomics: Caveat Emptor! Part II—Choosing Better, Future Children Chapter 10: Choosing a Better Embryo Chapter 11: Eugenic Abortions? Chapter 12: Building Better Fetuses in Utero Chapter 13: Building Better Kids at Birth: Vaccinations Chapter 14: Building Better Minds of Children: Ritalin and Adderal Part III—Changing Human Nature? Chapter 15: How Not to think about Genetic Enhancement Chapter 16: Human Enhancement; Six Psychosocial Objections Chapter 17: Overview: Cloning, Primordial Cells & Enhancement Chapter 18: Conclusions and Six Practical Proposals Acknowledgments
£30.00
Springer Clinical Cardiogenetics
Book SynopsisSection I: BASIC CONCEPTS - Introduction, Introduction to molecular genetics, Molecular genetics in cardiology, Clinical Genetics of cardiac diseases.- Section II: CARDIOMYOPATHY - Hypertrophic cardiomyopathy.- Dilated cardiomyopathy, Arrhythmogenic Right Ventricular Cardiomyopathy, Other cardiomyopathies.- Section III: PRIMARY ELECTRICAL HEART DISEASES - Congenital long QT-syndrome, Brugada syndrome, Short QT-syndrome, Catecholamine induced polymorphic ventricular tachycardia, Familial atrial fibrillation, Hereditary conduction diseases, Connective tissue disorders and smooth muscle disorders, Genetics of congenital heart diseases, Genetics of hypertension and clinical aspects, Genetics of the lipoprotein metabolism and clinical aspects, Genetics of homocysteine metabolism and clinical aspects, Genetic markers of hemostatic factors, The pharmacogenetics of atherosclerosis, Genetics of (premature) coronary artery disease, Cardiac involvement in hereditary neuromuscular diseases, Table of ContentsSection I: BASIC CONCEPTS - Introduction, Introduction to molecular genetics, Molecular genetics in cardiology, Clinical Genetics of cardiac diseases Section II: CARDIOMYOPATHY - Hypertrophic cardiomyopathy. Dilated cardiomyopathy, Arrhythmogenic Right Ventricular Cardiomyopathy, Other cardiomyopathies Section III: PRIMARY ELECTRICAL HEART DISEASES - Congenital long QT-syndrome, Brugada syndrome, Short QT-syndrome, Catecholamine induced polymorphic ventricular tachycardia, Familial atrial fibrillation, Hereditary conduction diseases, Connective tissue disorders and smooth muscle disorders, Genetics of congenital heart diseases, Genetics of hypertension and clinical aspects, Genetics of the lipoprotein metabolism and clinical aspects, Genetics of homocysteine metabolism and clinical aspects, Genetic markers of hemostatic factors, The pharmacogenetics of atherosclerosis, Genetics of (premature) coronary artery disease, Cardiac involvement in hereditary neuromuscular diseases, Sudden cardiac death < 40 years, The outpatient clinic for cardiogenetics, The future of cardiogenetics
£999.99
Springer Us The Superfamily of rasRelated Genes 220 Nato Science Series A
Book SynopsisProceedings of a NATO ARW held in Aghia Pelagia, Crete, Greece, May 17-21, 1991Table of ContentsTime Resolved Biochemical Studies of ras Proteins by Fluorescence Measurements on Tryptophan Mutants; B. Antonny, et al. The Ypt Gene Family of Schizosaccharomyces Pombe; J. Armstrong, et al. Rearrangement of the Human mel Gene, the ras 8 Homologue, in Human Malignant Melanomas; R.A. Padua, et al. Ras and Rap1 GTPases Mutated at Position 64; M.S.A. Nur-E-Kamel, H. Maruta. Suppression of the Phenotype of T24 Hras1 Transformed Cells; D.A. Spandidos. Detection of Nras Mutations in Acute Myeloid Leukemia; A.V. Todd, et al. Prognostic Implications of ras Oncogene Expression in Head and Neck Squamous Cell Carcinoma; J. Field. Biological Function of Aplysia Californica Rho Gene; R.P. Ballestero, et al. Localization of RAB Proteins; P. Chavrier, et al. Oncogene Expression and Cervical Cancer; R.P. Symonds, et al. Twentyfour additional articles. Index.
£42.74
Edinburgh University Press Buying Your Self on the Internet
Book SynopsisThis book examines the rise of the direct-to-consumer genetic testing industry (DTC) and its use of 'wrap' contracts. It uses the example of DTC to show the challenges that disruptive technologies pose for societies and for regulation. It also uses the wrap contracts of DTC companies to explore broader issues with online contracting.
£94.50
Humana Press Plant Epigenetics Methods and Protocols 631 Methods in Molecular Biology
Book SynopsisOut of the study of the intricacies of the genome and gene regulation, arose a new science that was independent of actual DNA changes, but critical in maintaining gene regulation and genetic stability.Trade ReviewFrom the reviews:“The book by Kovalchuk and Zemp is a successful attempt to provide the most recent approaches for identifying epigenetic variation in plants. … it is without doubts that the publication should be in every bookcase of molecular scientists interested in epigenetics. I can also recommend it for plant ecologists and evolutionists engaged in epigenetic variation in plants because some methods can be a good improvement of the currently commonly used approaches.” (Vit Latzel, Folia Geobotanica, Vol. 48, 2013)Table of ContentsTable of Contents Preface Contributors Analysis of DNA Methylation in Plants by Bisulfite Sequencing Andrea M. Foerster and Ortrun Mittelsten Scheid Analysis of bisulfite sequencing data from plant DNA with CyMATE Andrea M. Foerster, Jennifer Hetzl, Christoph Müllner and Ortrun Mittelsten Scheid Analysis of locus-specific changes in methylation patterns using a COBRA (combined bisulfite restriction analysis) assay Alex Boyko and Igor Kovalchuk Detection of changes in global genome methylation using the cytosine-extension assay Alex Boyko and Igor Kovalchuk In situ analysis of DNA methylation in plants Palak Kathiria and Igor Kovalchuk Analysis of mutation/rearrangement frequencies and methylation patterns at a given DNA locus using RFLP (restriction fragment length polymorphism) Alex Boyko and Igor Kovalchuk Isoschizomers and Amplified Fragment Length Polymorphism (AFLP) for the Detection of Specific Cytosine Methylation Changes Leonor Ruiz-García, Jose Antonio Cabezas, Nuria de María, María-Teresa Cervera Analysis of small RNA populations using hybridization to DNA tiling arrays Martine Boccara, Alexis Sarazin, Bernard Billoud, Agnes Bulski, Louise Chapell, David Baulcombe and Vincent Colot Northern blotting techniques for small RNAs Todd Blevins qRT-PCR of small RNAs Erika Varkonyi-Gasic and Roger P. Hellens Cloning new small RNA sequences Yuko Tagami, Naoko Inaba and Yuichiro Watanabe Genome-wide Mapping of Protein-DNA Interaction by Chromatin Immunoprecipitation and DNAMicroarray Hybridization (ChIP-chip). Part A – ChIP-chip Molecular Methods Julia J. Reimer and Franziska Turck Genome-wide mapping of protein-DNA interaction by chromatin immunoprecipitation and DNA microarray hybridization (ChIP-chip). Part B – ChIP-chip data analysis Ulrike Göbel and Franziska Turck Metaanalysis of ChIP-chip data Julia Engelhorn and Franziska Turck Chromatin Immunoprecipitation Protocol for Histone Modifications and Protein-DNA Binding Analyses in Arabidopsis Stéphane Pien, Ueli Grossniklaus cDNA Libraries for Virus-Induced Gene Silencing Andrea T. Todd, Enwu Liu and Jonathan E. Page Detection and quantification of DNA strand breaks using the ROPS (random oligonucleotide primed synthesis) assay Alex Boyko and Igor Kovalchuk Reporter gene-based recombination lines for studies of genome stability Palak Kathiria and Igor Kovalchuk Plant transgenesis Alicja Ziemienowicz
£107.99
Springer New York RNA Structure Determination Methods and Protocols Methods in Molecular Biology
Table of ContentsCrumple: An Efficient Tool to Explore thoroughly the RNA Folding Landscape.- Secondary Structure Prediction of Single Sequences using RNAstructure.- Prediction of Secondary Structures Conserved in Multiple RNA Sequences.- Predicting RNA-RNA Interactions Using RNAstructure.- A Method to Predict the Structure and Stability of RNA/RNA Complexes.- STarMir Tools for Prediction of microRNA Binding Sites.- Traditional Chemical Mapping of RNA Structure in vitro and in vivo.- High-throughput Nuclease Probing of RNA Structures using FragSeq.- Mapping RNA Structure in vitro with SHAPE Chemistry and Next Generation Sequencing (SHAPE-Seq).- Experiment-assisted Secondary Structure Prediction with RNAstructure.- RNA Secondary Structure Determination by NMR.- Modeling Small Non-canonical RNA Motifs with the Rosetta FARFAR Server.- Automated RNA 3D Structure Prediction with RNAComposer.- RNA 3D Structure Modeling by Combination of Template-Based Method ModeRNA, Template-Free Folding with SimRNA, and Refinement with QRNAS.- Exploring Alternative RNA Structure Sets using MC-FLashfold and db2cm.- NMR Methods for Characterization of RNA Secondary Structure.- The Quick and the Dead: A Guide to Fast Phasing of Small Ribozyme and Riboswitch Crystal Structures.
£999.99
Taylor & Francis Inc Placenta
Book SynopsisLong regarded as biological waste, the placenta is gaining momentum as a viable product for clinical use. Due to their unique properties, placental cells and derivatives show great promise in curing various diseases. Utilizing contributions from world-renowned experts, Placenta: The Tree of Life considers the therapeutic potential of these cells. It examines new stem cellbased strategies and highlights recent studies that advance the range of treatment for a number of illnesses. Emphasizing the potential research and therapeutic use of stem cells, the book discusses the development, structure, and functions of the human placenta. It introduces overall aspects of the immune system, explains some of the immune mechanisms during pregnancy, and shows the role of the placenta in these mechanisms. Current scientific research is presented that focuses on the mechanisms of action underlying the therapeutic benefit of cells isolated from different placental regionTable of ContentsStructure and Development of the Human Placenta. The Role of Mesenchymal Stem Cells in the Functions and Pathologies of the Human Placenta. The Roles of the Human Placenta in Fetal-Maternal Tolerance. The Human Placenta in Wound Healing: Historical and Current Approaches. Cell Populations Isolated from Amnion, Chorion, and Wharton’s Jelly of Human Placenta. The Immunomodulatory Features of Mesenchymal Stromal Cells Derived from Wharton’s Jelly, Amniotic Membrane, and Chorionic Villi: In Vitro and In Vivo Data. Use of Placenta-Derived Cells in Neurological Disorders. Use of Amnion Epithelial Cells in Metabolic Liver Disorders. The Use of Placenta-Derived Cells in Autoimmune Disorders. The Use of Placenta-Derived Cells in Inflammatory and Fibrotic Disorders. From Bench to Bedside: Strategy, Regulations, and Good Manufacturing Practice Procedures. Applications of Placenta-Derived Cells in Veterinary Medicine.
£171.00
Taylor & Francis Inc Therapeutic Applications of Adenoviruses
Book SynopsisAdenoviruses are double stranded DNA viruses that have been used to study the process of DNA replication. Studies of the mode of action of adenovirally produced tumors in rodents led to the discovery of tumour supressor genes. The adenoviral vector is now the most used vector in clinical gene therapy especially for some kinds of cancers. The chapters in this book focus on the most up-to-date developments in the therapeutic applications of adenoviruses. The intended audience is individuals in the Life Sciences interested in therapeutic applications of adenoviruses. This book reviews the life history and immune responses to adenoviruses and summarizes various therapies implemented with the use of adenoviruses.Table of ContentsAdenovirus Biology: Virus structure and life cycle. Immune responses to adenovirus. Helper-dependent adenoviral vectors for gene and cell therapy. Genetic and capsid modified Adenovirus. Adenovirus for vaccination. FGAd and HDAd. Adenovirus vectors for cancer therapy. Adenovirus-based hybrid vectors. FDA expectations and requirements of adenoviral products.
£147.25
Urban & Fischer/Elsevier BASICS Public Health
Book Synopsis
£24.30
Wiley-VCH Verlag GmbH Statistik für Mediziner und Pharmazeuten
Book SynopsisGute Daten + gute Statistik = gute Ergebnisse! Mit diesem Buch haben falsche Statistiken keine Chance mehr. Übersichtlich gegliedert in 6 Teile mit zusammen 20 Kapiteln werden hier alle wichtigen Typen von Daten und die Verfahren zu deren Auswertung erklärt. Die erklärte Maxime des Autors ist es, dass sich eine statistische Auswertung immer an der Art und Qualität der Daten orientieren muss, damit diese nicht fehl- oder überinterpretiert werden. Komplizierte Mathematik ist dabei weder nötig noch erwünscht, denn meistens sind die einfachsten Verfahren die aussagekräftigsten. Ein positiver Lerneffekt stellt sich bereits nach wenigen Seiten ein, denn hier werden genau die Fragen gestellt (und beantwortet!), mit denen ein angehender Mediziner oder Pharmazeut während der Ausbildung konfrontiert wird. Mit seinem ungezwungenen und direkten Stil gelingt es dem Autor, dass die Statistik vom ungeliebten Kind zum effizienten Werkzeug wird, auch ohne mathematische Begabung beim Leser. * Leicht verständliche Texte (fast) ohne Formeln * Alle Beispiele kommen aus der Medizin oder der Pharmazie * Warnhinweise auf häufi ge Fehler und auf den unsachgemäßen Einsatz von Statistiken Als leicht verständliche Einführung in die statistischen Grundlagen und Verfahren, die in der Medizin und in der Pharmazie eingesetzt werden, ist dieses Buch bestens geeignet für alle, die eine Ausbildung im medizinischpharmazeutischen Bereich absolvieren.Trade Review"Rowes rundum gelungenes Grundlagenwerk ist das mit Abstand beste Statistikbuch für naturwissenschaftliche Anfänger, das mir bislang untergekommen ist. Es balanciert präzise auf jenem schmalen Grat zwischen (zu)komplizierter Mathematik und oberflächlichem Blabla. Folgerichtiger Ratschlag: Kaufen!" Laborjournal (01.12.2016) "Eines der wenigen verständlich geschriebenen Bücher, das auch gering vorgebildete Studenten nicht abschreckt, sondern als Einstieg in die Statistik genutzt werden kann. Didaktisch ist das Buch sehr gut gelungen. Man bemerkt kaum, dass es sich um eine Übersetzung handelt. Das Preis-Leistungsverhältnis ist sehr gut. Das Buch wird sicher nicht nur als Prüfungsvorbereitung genutzt werden, sondern erleichtert auch Doktoranden und Jungwissenschaftlern den Umgang mit der immer komplizierter werdenden Statistik." Prof. Dr. Dr. Harald Kaemmerer, Klinik an der TU München (01/2013) "übersichtlich, lehrreich und einprägsam" uni-online.de (05.02.2013) "sehr schön und übersichtlich aufgebaut" uni-online.de (07.01.2013) "ein didaktisch sehr gut aufgearbeitetes und verständliches Lehrbuch" uni-online.de (03.12.2012) "Dieses Buch hat [...] mit Recht den Aufdruck 'Verdammt clever' verdient." uni-online.de (20.11.2012) "Mit unnachahmlichem Stil, durch den auch dieses Fachgebiet seinen Schrecken verliert, präsentiert der Autor das Lehrbuch." PharmaTEC (8/2012, 01.11.2012) "Rowe versteht es, auch für Leser ohne ausgeprägte mathematische Begabung Torten-, Balken- und Kurvendiagramme mit Leben zu erfüllen." apotheke + marketing (11/2012, 01.11.2012) "Ja, Statistik kann auch Spaß machen! Philip Rowe ist bekannt für seinen unnachahmlichen Stil, durch den dieses Fachgebiet für Statistikmuffel an Schrecken verliert." Deutsche Apotheker Zeitung (Nr. 37, 13.09.2012) "Eine verständliche Einführung in die statistischen Grundlagen und Verfahren, die in der Medizin und in der Pharmazie angewandt werden." medknowledge.de (10.09.2012)Table of ContentsVORWORT TEIL1: Datentypen DATENTYPEN Kommt es wirklich darauf an? Daten auf einer Intervallskala Daten auf einer Ordinalskala Daten auf einer Nominalskala Aufbau dieses Buchs Kapitelzusammenfassung TEIL2: Daten auf Intervallskalen BESCHREIBENDE STATISTIK Zusammenfassung von Datensätzen Zentrale Lagemaße - der Mittelwert, der Median und der Modalwert Beschreibung der Spannweite - die Standardabweichung und die relative Standardabweichung Quartile - eine andere Möglichkeit, Daten zu beschreiben Verwendung von Software für die beschreibende Statistik Kapitelzusammenfassung DIE NORMALVERTEILUNG Was ist eine Normalverteilung? Wie erkennt man normalverteilte Daten? Anteile von Einzelwerten innerhalb von einer oder zwei Standardabweichungen vom Mittelwert Kapitelzusammenfassung STICHPROBEN AUS EINER GRUNDGESAMTHEIT UND DER STANDARDFEHLER DES MITTELWERTS Stichproben und Grundgesamtheiten Von der Stichprobe zur Grundgesamtheit Verschiedene Stichprobenfehler Welche Faktoren bestimmen die Höhe des zufälligen Stichprobenfehlers? Abschätzung des wahrscheinlichen Stichprobenfehlers und der Standardfehler Aufrechnung von Stichprobengröße und Standardabweichung Kapitelzusammenfassung DAS 95 %-KONFIDENZINTERVALL FÜR DEN MITTELWERT Was ist ein Konfidenzintervall? Wie breit sollte das Intervall sein? Was meinen wir mit ''95 %''-Konfidenz? Berechnung der Intervallbreite Eine Reihe von Stichproben und 95 %-Konfidenzintervallen Wie stark hängt die Breite des Konfidenzintervalls von Änderungen der Standardabweichung, des Stichprobenumfangs und des gewünschten Konfidenzniveaus ab? Zwei Aussagen Einseitige 95 %-Konfidenzintervalle Das 95 %-Konfidenzintervall für den Unterschied zweier Behandlungen Über die Notwendigkeit, dass die Daten einer Normalverteilung folgen und Datentransformation Kapitelzusammenfassung DER DOPPELTE T-TEST (1). EINFÜHRUNG IN HYPOTHESENTESTS Der doppelte t-Test - ein Beispiel für einen Hypothesentest Signifikanz Das Risiko eines falsch-positiven Ergebnisses Von welchen Faktoren hängt es ab, ob wir ein signifikantes oder ein nicht signifikantes Ergebnis erhalten? Voraussetzungen für einen doppelten t-Test Kapitelzusammenfassung DER DOPPELTE T-TEST (2): DER BERÜCHTIGTE P-WERT Wie kann man die Signifikanz eines Ergebnisses beziffern? p-Werte Gibt es zwei Arten, Signifikanz zu definieren? Bestimmung des p-Wertes p-Werte oder 95 %-Konfidenzintervalle? Kapitelzusammenfassung DER DOPPELTE T-TEST (3). FALSCH-NEGATIVE BEFUNDE, GÜTE UND NOTWENDIGE STICHPROBENUMFÄNGE Was könnte sonst noch schief gehen? Die Güte Berechnung des notwendigen Stichprobenumfangs Kapitelzusammenfassung DER DOPPELTE T-TEST (4). STATISTISCHE SIGNIFIKANZ, PRAKTISCHE BEDEUTUNG UND ÄQUIVALENZ Praktische Bedeutung - ist die Differenz so groß, dass sie eine Rolle spielt? Äquivalenztests Tests auf Nicht-Unterlegenheit p-Werte sind weniger aussagekräftig und können förmlich in die Irre führen Setzen von Äquivalenzgrenzen vor dem eigentlichen Versuch Kapitelzusammenfassung DER DOPPELTE T-TEST (5). EINSEITIGE TESTS Suche nach einer Veränderung in einer bestimmten Richtung Schutz vor falsch-positiven Befunden Versuchung Einsatz eines Softwarepakets bei einem einseitigen Test Sollte man häufiger einseitige Tests einsetzen? Kapitelzusammenfassung WAS SAGT UNS EIN STATISTISCH SIGNIFIKANTES ERGEBNIS WIRKLICH? Wie interpretiert man statistische Signifikanz? Am Anfang steht äußerste Skepsis Kapitelzusammenfassung DER GEPAARTE T-TEST - VERGLEICH VON ZWEI ZUSAMMENHÄNGENDEN DATENSÄTZEN Gepaarte Datensätze Untersuchung der Daten mithilfe eines doppelten t-Tests Alternative Anwendung eines gepaarten t-Tests Durchführung eines gepaarten t-Tests Wodurch ist bestimmt, ob ein gepaarter t-Test signifikant ist? Größere Teststärke beim gepaarten t-Test Der gepaarte t-Test ist nur auf natürliche Paare von Daten anwendbar Auswahl des passenden Versuchsaufbaus Voraussetzungen für das Anwenden eines gepaarten t-Tests Stichprobenumfänge, praktische Bedeutung und einseitige Tests Zusammenfassung der Unterschiede zwischen dem gepaarten und dem doppelten t-Test VARIANZANALYSE - ÜBER T-TESTS HINAUS Erweiterung zu komplexen Versuchsdesigns Einfache Varianzanalyse Zweifache Varianzanalyse Multifaktorenversuche Einfache Form - starke Aussage Kapitelzusammenfassung KORRELATION UND REGRESSION - ZUSAMMENHÄNGE ZWISCHEN MESSWERTEN Korrelationsanalyse Regressionsanalyse Mehrfache Regression Kapitelzusammenfassung TEIL3: Daten auf Nominalskalen BESCHREIBUNG VON KATEGORISIERTEN DATEN Beschreibende Statistik Tests, ob der wahre Anteil möglicherweise einen vorbestimmten Wert hat Kapitelzusammenfassung VERGLEICH BEOBACHTETER ANTEILE - DER CHI-QUADRAT-KONTINGENZTEST Anwendung des Chi-Quadrat-Kontingenztests für den Vergleich von beobachteten Anteilen Ein 95 %-Konfidenzintervall für die Änderung der Ausstoßquote - ist die Änderung von praktischer Bedeutung? Größere Kontingenztafeln - Nutzung der Diabetes-Sprechstunde Planung der Versuchsgröße Kapitelzusammenfassung TEIL4: Daten auf Ordinalskalen ORDINALSKALIERTE, NICHT NORMALVERTEILTE DATEN. TRANSFORMATIONEN UND PARAMETERFREIE TESTS Transformation auf eine Normalverteilung Der Mann-Whitney-Test - ein nicht parametrisches Verfahren Umgang mit Daten auf Ordinalskalen Andere nicht parametrische Verfahren Kapitelzusammenfassung Anhang zu Kapitel 17 TEIL5: Reale Herausforderungen MEHRFACHTESTS Was ist ein Mehrfachtest und warum ist er problematisch? Wo treten Mehrfachtests auf? Verfahren zur Vermeidung von Falsch-positiven Die Rolle der wissenschaftlichen Zeitschriften Kapitelzusammenfassung FRAGEBÖGEN Gibt es Besonderheiten bei Fragebögen? Arten von Fragen Entwurf eines Fragebogens Stichprobenumfang und Rücklaufquoten Untersuchung der Ergebnisse Verquickte epidemiologische Daten Mehrfachtests bei Fragebogendaten Kapitelzusammenfassung TEIL6: Fazit SCHLUSSFOLGERUNGEN Machen Sie sich das Ziel des Versuchs klar Bauen Sie den Versuch einfach und damit klar und aussagekräftig auf Planen Sie die statistischen Analysen schon als Teil des Versuchsdesigns und nicht erst auf den letzten Drücker Untersuchen Sie die Daten visuell, bevor Sie in die statistischen Tests einsteigen Hüten Sie sich vor Mehrfachtests Interpretieren Sie sowohl Signifikanz als auch Nicht-Signifikanz mit gebührender Sorgfalt
£22.50
Springer-Verlag Berlin and Heidelberg GmbH & Co. KG Von der Zellenlehre zur Chromosomentheorie: Naturwissenschaftliche Erkenntnis und Theorienwechsel in der frühen Zell- und Vererbungsforschung
Table of Contents1 Wachstum naturwissenschaftlicher Erkenntnis: Einführung in die Wissenschaftstheorie von Thomas Kuhn.- 1.1 Paradigma, Anomalie, Krise und Revolution: Die Begriffe bei Thomas Kuhn.- 1.2 Kuhns Paradigma-Begriff aus der Sicht der Gestalttheorie.- 1.3 Bedeutung von Musterbeispielen in der Welterfahrung des heranwachsenden Kindes.- 1.4 Erster Exkurs: Unmögliche Gestalten.- 2 Wachstum naturwissenschaftlicher Erkenntnis: Von der Zelltheorie bis zur Chromosomentheorie der Vererbung.- 2.1 Zur Entwicklungsgeschichte der Mikroskopie und Histologie.- 2.2 Vorläufer der Zelltheorie: Franz Julius Ferdinand Meyen.- 2.3 Die Zelltheorie bei Schleiden und Schwann.- 2.4 Wissenschaftstheorie bei Schwann und Schleiden.- 2.5 Krise der Zelltheorie: Wie bilden sich Zellen?.- 2.6 Zellkern und Befruchtungslehre.- 2.7 Die Entdeckung der Chromosomen.- 2.8 Zweiter Exkurs: Zur Rolle von Wissenschaftssprache und esoterischen Objekten beim Wachstum wissenschaftlicher Erkenntnis.- 2.9 Kontinuität oder Auflösung der Chromosomen in der Interphase? Das Paradigma der Chromosomenindividualität.- 2.10 Chromosomentheorie der Vererbung vor 1900: August Weismanns Versuch einer „realen“ Theorie.- 2.11 Die Geburt der Genetik: Das Paradigma von Gregor Mendel.- 2.12 Chromosomentheorie der Vererbung nach 1900: Walter S. Sutton und Theodor Boveri.- 2.13 Cytogenetik in der Lyssenko-Ära: Ein illegitimer Paradigmawechsel.- 3 Betrachtungen zum Wachstum wissenschaftlicher Erkenntnis.- 3.1 Kuhns Theorie des Paradigmawechsels und die Geschichte der frühen Zell- und Verer-bungsforschung: Ein kritischer Vergleich.- 3.2 Wie wächst wissenschaftliche Erkenntnis?.- a) Was bedeutet „Wachstum“ im Erkenntnisprozeß?.- b) Gibt es Regeln für den Entwurf naturwissenschaftlicher Paradigmata? Anmerkungen zur Rolle von Theorie und Beobachtung.- 3.3 Der Wunsch nach geschlossenen Theorien und die Unvermeidbarkeit von Krisen im Wachstum der Erkenntnis. Bemerkungen aus dem Blickwinkel einer evolutionären Erkenntnistheorie.- 3.4 Sehen und räumliches Vorstellungsvermögen aus dem Blickwinkel einer evolutionären Erkenntnistheorie: der Mesokosmos als ,kognitive Nische‘ des Menschen.- Dritter Exkurs: Eschers Belvedere und das Raumproblem.- Vierter Exkurs: Naive und naturwissenschaftliche Raumerfahrung in einem zweidimensionalen Mesokosmos.- 3.5 Schlußbetrachtung: Entwicklung der Chromosomentheorie und Menschenbild.- 4 Anmerkungen.- 5 Postscriptum — Ludwik Fleck (1896–1961) der Vorläufer von Thomas Kuhn: Die Theorie vom Denkstil und den Denkstilumwandlungen in wissenschaftlichen Gemeinschaften.- 6 Literatur.- 7 Namenverzeichnis.- 8 Sachverzeichnis.
£61.74
Pennsylvania State University Press Being at Genetic Risk
Book SynopsisAdvocates a conversation around the genetic risk for breast and ovarian cancers that focuses less on choice and more on care. Offers a new set of conceptual starting points for understanding what is at stake with a BRCA diagnosis and what the focus on choice obstructs from view. Trade Review“This book is groundbreaking, not only for scholars interested in women’s health, or health or science studies more generally, but also for rhetorical scholars and (post)humanists.”—Celeste M. Condit,author of Angry Public Rhetorics: Global Relations and Emotion in the Wake of 9/11“Being at Genetic Risk delves deeply into Mol’s concept of ‘logic of care’; set in the context of the risk of a genetic disease (rather than focusing on patients living with a disease or a difficult-to-define symptom), this adds in significant and interesting ways to the conversation.”—Jodie Nicotra,University of Idaho“Kelly Pender’s Being at Genetic Risk: Toward a Rhetoric of Care makes an important contribution to scholarship in the rhetoric of health and medicine (RHM); rhetoric of science, technology, and medicine (RSTM); and rhetoric more broadly. The book does so by taking on the important task of questioning critiques ‘debunking’ social creations that dupe naïve people into believing their reality.”—Cathryn Molloy Rhetoric Review
£25.16
WW Norton & Co DNA Is Not Destiny The Remarkable Completely
Book SynopsisOne of the world’s leading cultural psychologists debunks the hype surrounding DNA testing and puts to rest our mistaken anxieties about our genes.
£12.34
Wiley Genetics of Autoimmunity
a huge range and FREE tracked UK delivery on ALL orders.
£142.16
John Wiley and Sons Ltd Human Genetics and Genomics Includes Wiley EText
Book SynopsisThis fourth edition of the best-selling textbook, Human Genetics and Genomics, clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions.Table of ContentsPreface vii How to get the best out of your textbook viii PART ONE: BASIC PRINCIPLES OF HUMAN GENETICS 1 1 DNA Structure and Function 3 2 Genetic Variation 20 3 Patterns of Inheritance 38 4 The Human Genome 64 5 Multifactorial Inheritance 87 6 Cell Division and Chromosomes 100 7 Population Genetics 125 8 Cancer Genetics 137 PART TWO: GENETICS AND GENOMICS IN MEDICAL PRACTICE 155 9 Chromosome Translocation 157 10 Molecular Diagnosis 171 11 Newborn Screening 182 12 Developmental Genetics 194 13 Carrier Screening 203 14 Genetic Risk Assessment 213 15 Genetic Testing for Risk of Cancer 222 16 Pharmacogenetics 230 17 Treatment of Genetic Disorders 239 Answers to Review Questions 248 Glossary 253 Index 262
£44.60
John Wiley & Sons Inc Human Drug Metabolism
Book SynopsisHuman Drug Metabolism, An Introduction, Second Edition provides an accessible introduction to the subject and will be particularly invaluable to those who already have some understanding of the life sciences. Completely revised and updated throughout, the new edition focuses only on essential chemical detail and includes patient case histories to illustrate the clinical consequences of changes in drug metabolism and its impact on patient welfare. After underlining the relationship between efficacy, toxicity and drug concentration, the book then considers how metabolizing systems operate and how they impact upon drug concentration, both under drug pressure and during inhibition. Factors affecting drug metabolism, such as genetic polymorphisms, age and diet are discussed and how metabolism can lead to toxicity is explained. The book concludes with the role of drug metabolism in the commercial development of therapeutic agents as well as the pharmacology of some illicit drugs.<Trade ReviewReviews of first edition: "The author has certainly achieved his goal of providing an accessible introduction to human drug metabolism" (The Annals of Pharmacotherapy, June 2006) "Armed with the knowledge contained in this book, we should all be well on the way" (Pharmaceutical Physician, May 2006) "…a useful introductory text for the intended audience of students studying pharmacology and toxicology…" (Veterinary Pathology, November 2006)Table of ContentsPreface. Preface to First Edition. 1. Introduction. 1.1 Therapeutic window. 1.2 Consequences of drug concentration changes. 1.3 Clearance. 1.4 Hepatic extraction and intrinsic clearance. 1.5 First pass and plasma drug levels. 1.6 Drug and xenobiotic metabolism. 2. Drug Biotransformational Systems – Origins and Aims. 2.1 Biotransforming enzymes. 2.2 Threat of lipophilic hydrocarbons. 2.3 Cell communication. 2.4 Potential food toxins. 2.5 Sites of biotransforming enzymes. 2.6 Biotransformation and xenobiotic cell entry. 3. How Oxidative Systems Metabolize Substrates. 3.1 Introduction. 3.2 Capture of lipophilic molecules. 3.3 Cytochrome P450s classification and basic structure. 3.4 CYPs – main and associated structures. 3.5 Human CYP families and their regulation. 3.6 Main human CYP families. 3.7 Cytochrome P450 catalytic cycle. 3.8 Flavin monooxygenases (FMOs). 3.9 How CYP isoforms operate in vivo. 3.10 Aromatic ring hydroxylation. 3.11 Alkyl oxidations. 3.12 ‘Rearrangement’ reactions. 3.13 Other oxidation processes. 3.14 Control of CYP metabolic function. 4. Induction of Cytochrome P450 Systems. 4.1 Introduction. 4.2 Causes of accelerated clearance. 4.3 Enzyme induction. 4.4 Mechanisms of enzyme induction. 4.5 Induction – general clinical aspects. 5. Cytochome P450 Inhibition. 5.1 Introduction. 5.2 Inhibition of metabolism – general aspects. 5.3 Mechanisms of inhibition. 5.4 Cell transport systems and inhibition. 5.5 Major clinical consequences of inhibition of drug clearance. 5.6 Use of inhibitors for positive clinical intervention. 5.7 Summary. 6. Conjugation and Transport Processes. 6.1 Introduction. 6.2 Glucuronidation. 6.3 Sulphonation. 6.4 The GSH system. 6.5 Glutahione S-transferases. 6.6 Epoxide hydrolases. 6.7 Acetylation. 6.8 Methylation. 6.9 Esterases/amidases. 6.10 Amino acid conjugation (glycine or glutamate). 6.11 Phase III transport processes. 6.12 Biotransformation-integration of processes. 7. Factors Affecting Drug Metabolism. 7.1 Introduction. 7.2 Genetic polymorphisms. 7.3 Effects of age on drug metabolism. 7.4 Effects of diet on drug metabolism. 7.5 Gender effects. 7.6 Smoking. 7.7 Effects of ethanol on drug metabolism. 7.8 Artificial livers. 7.9 Effects of diseases on drug metabolism. 9.10 Summary. 8. Role of Metabolism in Drug Toxicity. 8.1 Adverse drug reactions: definitions. 8.2 Reversible drug adverse effects: Type A. 8.3 Irreversible drug toxicity: Type B. 8.4 Type B1 necrotic reactions. 8.5 Type B2 reactions: immunotoxicity. 8.6 Type B3 reactions: role of metabolism in cancer. 8.7 Summary of biotransformational toxicity. Appendix A: Methods in Drug Metabolism. A.1 Introduction. A.2 Analytical techniques. A.3 Human liver microsomes. A.4 Human hepatocytes. A.5 Human cell lines. A.6 Heterologous recombinant systems. A.7 Animal model developments in drug metabolism. A.8 Toxicological metabolism-based assays. A.9 In silico studies. A.10 Summary. Appendix B. Metabolism of Major Illicit Drugs. B.1 Introduction. B.2 Opiates. B.3 Cocaine. B.4 Hallucinogens. B.5 Amphetamines. B.6 Cannabis. B.7 Dissociative anaesthetics. Appendix C. Examination Techniques. C.1 Introduction. C.2 A first-class answer. C.3 Preparation. C.4 The day of reckoning. Appendix D. Summary of Major CYP Isoforms and their Substates, Inhibitors and Inducers. Suggested Further Reading. Index.
£41.75
John Wiley and Sons Ltd The Genetic Basis of Haematological Cancers
Book SynopsisWritten by a team of international experts, this book provides an authoritative overview and practical guide to the molecular biology and genetic basis of haematologic cancers including leukemia.Table of ContentsList of contributors xi Preface xiii 1 The myelodysplastic syndromes 1 Cristina Mecucci, Valeria Di Battista and Valeria Nofrini Introduction 1 Predisposing conditions 2 Familial platelet disorder with propensity to myeloid malignancy (FPD/AML) 2 Severe congenital neutropenia (SCN) 5 Poikiloderma with neutropenia 6 Familial MDS/AML 6 Shwachman–Diamond syndrome (SDS) 7 Dyskeratosis congenita (DKC) and telomere syndromes 8 Fanconi anaemia (FA) 11 Down syndrome 12 Cytogenetics 12 Loss of Y chromosome (–Y) and del(11q) 13 Del(20q) 15 idic(X)(q13) 15 Del(17)(p13)/i(17q) 15 Del(12p) 16 Trisomy 8 16 Rare trisomies: +6, +13, +14, +15, +16, +19, +21 16 Monosomy 7 and del(7q) 17 Rare monosomies 19 Unbalanced translocations involving 1q 19 t(17;18)(p10;q10) 20 Rare or sporadic balanced translocations 20 Complex karyotypes 22 Chromosome 5q deletions 23 Somatic mutations 31 Oncogenes and tumour suppressor genes 31 Mutations of genes involved in epigenetic modulation 39 Mutations of genes involved in the spliceosome machinery 45 Rare gene mutations in myelodysplastic syndromes 48 Epigenetics 49 DNA methylation 50 Histone modifications 52 RNA 53 Conclusion 54 References 54 2 Molecular genetics of the myeloproliferative neoplasms 80 Philip A. Beer Introduction 80 Overview of the different types of mutation found in MPN patients 80 Acquired mutations in cytokine signalling pathways 82 Acquired mutations in pathways controlling transcriptional regulation 84 Acquired mutations associated with transformation to advanced-phase disease 87 Inherited predisposition to clonal MPNs 87 Inherited non-clonal disorders that phenocopy distinct MPNs 87 Polycythaemia vera (PV), essential thrombocythaemia (ET) and primary myelofibrosis (PMF) 88 Acquired mutations in cytokine signalling pathways (Table 2.3) 89 Acquired mutations in pathways controlling transcriptional regulation (Table 2.4) 95 Acquired mutations associated with progression to advanced and blastic-phase disease 101 Inherited predisposition to clonal MPNs 103 Inherited non-clonal disorders that phenocopy distinct MPNs 104 Principles and clinical utility of laboratory testing 107 Chronic eosinophilic leukaemia 109 Acquired mutations in cytokine signalling pathways 109 Acquired mutations in pathways controlling transcriptional regulation 113 Acquired mutations associated with progression to advanced and blastic-phase disease 113 Inherited predisposition to clonal MPNs 113 Inherited non-clonal disorders that phenocopy distinct MPNs 114 Principles and clinical utility of laboratory testing 114 Neoplastic mast cell disease 115 Acquired mutations in cytokine signalling pathways 116 Acquired mutations in pathways controlling transcriptional regulation 118 Acquired mutations associated with progression to advanced and blastic-phase disease 118 Inherited predisposition to clonal MPNs 119 Inherited non-clonal disorders that phenocopy distinct MPNs 119 Principles and clinical utility of laboratory testing 120 References 121 3 Acute myeloid leukaemia 133 Matthew L. Smith and Thomas McKerrell Introduction 133 AML classification 134 Cytogenetic aberrations 135 Fusion genes arising from structural rearrangements 135 Monosomies 148 Complex and monosomal karyotypes 148 Trisomies 148 Double minute chromosomes 151 Normal karyotype – is it really normal? 151 Altered gene expression 152 EVI1 152 BAALC 153 MN1 153 ERG 154 SET 154 BRE 154 WT1 154 miRNA genes 154 Diagnosis and classification of AML 155 Current risk stratification of AML patients: European LeukemiaNet (ELN) guidelines 156 Therapeutic regimens in AML 158 Management of younger adults aged 18–60 years 159 Older AML patients (aged >60 years) 159 Novel agents 160 Monitoring response to therapy (MRD) 160 The genomics of AML 161 Clonal evolution of AML 161 Established recurrent mutations in AML 163 Novel recurrent mutations in AML 173 Emerging concepts and future directions 179 Age-related clonal haematopoiesis (ARCH) 179 Application of genomic technologies to the diagnosis of AML 179 Conclusion 181 Mini-glossary 183 References 184 4 Molecular genetics of paediatric acute myeloid leukaemia 203 Marry van den Heuvel-Eibrink, Jasmijn D.E. de Rooij and Christian Michel Zwaan Clinical introduction 203 Epidemiology of AML 203 Diagnostic approach 204 Treatment and outcome 205 Relevant molecular and genetic aberrations in paediatric AML 206 Type I/II aberrations and their non-random associations 206 Relevance of type I/II aberrations for outcome and stratification of paediatric AML treatment 209 Epigenetic modifiers and hydroxymethylation pathway mutations 212 Further strategies 213 Further genomic approaches to unravelling the biology of paediatric AML 213 Molecularly targeted therapy 214 Conclusion 215 References 215 5 Acute lymphoblastic leukaemia 223 Anna Andersson, Anthony V. Moorman, Christine J. Harrison and Charles Mullighan Introduction 223 Chromosomal aberrations in BCP-ALL 224 High hyperdiploidy 227 t(12;21)(p13;q22)/ETV6-RUNX1 232 t(1;19)(q23;p13)/TCF3-PBX1 233 t(17;19)(q22;p13)/TCF3-HLF 234 Hypodiploidy 234 11q23/KMT2A (MLL) gene rearrangements 236 t(9;22)(q34;q11.1)/BCR-ABL1 237 Intrachromosomal amplification of chromosome 21 (iAMP21) 238 Complex karyotype 239 Submicroscopic genetic alterations in BCP-ALL 240 Alteration of transcription factors in BCP-ALL 241 CRLF2 rearrangements and Janus kinase mutations in ALL 242 BCR-ABL1-like or Ph-like ALL 243 ERG-altered ALL 245 Genetic rearrangements in T-lineage ALL 245 TAL1/LMO2 rearranged T-ALL 247 TLX1/TLX3 rearranged T-ALL 248 Early T-cell precursor ALL 249 Other T-ALL genetic subtypes: MLL rearranged and PICALM-MLLT10 250 Relapsed ALL 251 Future directions 252 References 252 6 The genetics of mature B-cell malignancies 265 Jonathan C. Strefford, Jude Fitzgibbon, Matthew J.J. Rose-Zerilli and Csaba Bödör Introduction 265 Chronic lymphocytic leukaemia 266 Immunoglobulin heavy-chain variable region gene mutational status 267 Chromosomal banding and interphase molecular cytogenetics 268 Copy number alterations 269 Deletions of 13q14 269 Trisomy 12 272 Deletions of 11q24 and mutations of ATM 273 Deletions of 17p13 and mutations of TP53 275 Other copy number alterations in CLL 276 Genome complexity and chromothripsis 277 Novel mutations in patients with CLL 279 NOTCH1 280 SF3B1 281 Other genes 282 Novel genetic mutations in clinical practice 282 Germinal centre lymphomas 284 Follicular lymphoma 286 Diffuse large B-cell lymphoma 293 Conclusions and future perspectives 296 Acknowledgements 299 References 299 7 The genetics of chronic myelogenous leukaemia 312Philippa C. May, Jamshid S. Khorashad, Mary Alikian, Danilo Perrotti and Alistair G. Reid Introduction 312 Clinical features 313 The structure and physiological function of BCR and ABL1 316 The structure of the BCR-ABL1 fusion gene 317 Mechanisms of BCR-ABL1-induced oncogenesis 319 Potential mechanisms underlying the genesis of CML 320 CML blast crisis transformation 321 Tyrosine kinase inhibitor (TKI) therapy 325 The genetic basis of TKI resistance 326 Novel therapeutic approaches 330 Genetics in patient management 332 Cytogenetic and molecular cytogenetic monitoring 332 Quantitative reverse transcriptase polymerase chain reaction (RT-qPCR) 334 BCR-ABL1 mutation analysis 337 Conclusion 338 References 339 Index 359
£120.95
John Wiley & Sons Inc Clinical Cancer Genetics
Book SynopsisThis comprehensive guide helps health care professionals use genetics in managing patients at risk for, or already diagnosed with, common cancers. It offers health care professionals a framework for counseling patients, families, and colleagues about the availability, benefits, and limitations of the new technologies for genetic risk assessment.Trade Review"I refer to [this book] frequently and almost feel as if Dr. Offit was in the consulting room. I urge oncologists and other professionals providing cancer risk counseling to read this book and keep it at hand for convenient reference." (Annals of Oncology) "This is an excellent textbook ... it will be on my list of recommended reading for students...." (Human Genetics, May 2000) "This is an excellent textbook encompassing a wealth of experience." (Human Genetics, No. 106, 2000)Table of ContentsClinical Cancer Genetics and Risk Counseling. Hereditary and Acquired Risks for Cancer. Cancer as a Genetic Disorder. The Common Hereditary Cancers. Other Cancer Predisposition Syndromes. Quantitative Methods in Cancer Risk Assessment. Laboratory Methods of Cancer Genetic Testing. Genetic Testing in the Management of Patients with Cancer. Reproductive Counseling for Cancer Patients and Families. Psychological, Ethical, and Legal Issues of Cancer Risk Counseling. Glossary. Appendices. Index.
£142.16
John Wiley & Sons Inc Stem Cell Biology and Gene Therapy
Book SynopsisPresents stem cells and gene therapy together in one comprehensive volume. it also addresses the major advances in stem cell biology research and the many applications of this research in the development of novel molecular therapies.Table of ContentsStem Cell Systems: Basic Principles and Methodologies (S. Nilsson & P. Quesenberry). Cytokine/Growth Factor Responsiveness of Early Hemopoietic Progenitor Cells (A. Burgess). Molecular Mechanisms Controlling the Cell Cycle and Proliferation-Differentiation Interrelationships (G. Stein, et al.). Stem Cell Transcription (S. Weissman & A. Perkins). Hematopoietic Stem Cells: Proliferation, Purification and Clinical Applications (R. Pettengell & M. Moore). Delivery Systems for Gene Therapy: The Adenovirus (T. Shenk). Gene Transfer to Muscle and Spinal Cord Using Herpes Simplex Virus-Based Vectors (J. Huard, et al.). Herpes Virus Vectors (X. Breakefield, et al.). Delivery Systems for Gene Therapy: Adeno-Associated Virus (G. Kroner-Lux, et al.). Delivery Systems for Gene Therapy: Adeno-Associated Virus 2 (A. Srivastava). Ribozyme Gene Therapy Targeting Stem Cells for Human Immunodeficiency Virus Infection (A. Ho, et al.). Elements of DNA Vaccine Design (M. Caufield & M. Liu). Development of Gene Therapy for Gaucher Disease (J. Barranger, et al.). Clinical Applications of Gene Therapy: Correction of Genetic Disease Affecting Hematopoietic Cells (J. Medin, et al.). Gene Therapy for Hemophilia (K. High). Clinical Applications of Gene Therapy: Anemias (G. Atweh & B. Forget). Clinical Applications of Gene Therapy in Cancer: Modification of Sensitivity to Therapeutic Agents (T. Licht, et al.). Clinical Applications of Gene Therapy: Brian Tumors (K. Culver & J. Van Gilder). Clinical Applications of Gene Therapy: Cardiovascular Disease (J. Fox). Applications of Gene Therapy to Neurological Diseases and Injuries (D. Choi-Lundberg & M. Bohn). Index.
£214.16
John Wiley & Sons Inc Pharmacogenomics Social Ethical and Clinical
Book SynopsisThis book examines the ethical, legal, and social implication of pharmacogenomics. Through analyses of the complex underlying issues, this interdisciplinary volume frames the agenda for dealing with genetic variation and incorporating pharmacogenomics into health care.Trade Review"The discussion of societal, legal, economic, and governmental issues go well beyond the sphere of pharmogenomics." (American Journal for Medical Genetics, September 1, 2005) "...indispensable guide...as timely as it can be...an impressive multidisciplinary analysis...a 'must read'..." (Bioethics, Vol 18(4), August 2004) "…Pharmacogenomics is highly recommended for anyone with an interest in the field…. Given this book's uniqueness…libraries at any institution teaching pharmcogenomics should have a copy of this book.” (Journal of Pharmacy Technology, Sept/Oct 2003) "...well written, clear, and informative...a restrained sense of excitement...permeates throughout...clearly...a solid contribution to the discourse." (Nature Biotechnology, May 1, 2003) "...chapters offer fascinating glimpses into fields that may not be familiar to geneticists, genomicists, or clinicians...they will be informative...and provide a reminder that many people outside this field are going to be paying a lot of attention as discoveries...are reported." (New England Journal of Medicine, July 24, 2003) "...an excellent summary of aspects of phamacogenomics...a solid reference for those working in the field and a unique textbook for those new to the subject area." (Clinical Chemistry, Vol. 49, No. 9) "...a welcome addition to the growing body of literature...highly recommended for anyone with an interest in the field...should be required reading for anyone conducting pharmacogenomic research and for all clinicians who use pharmacogenomics..." (Journal of Pharmacy Technology, Vol. 19September/October 2003) "...addresses the ethical, legal, and social implications of the individualized medicine that pharmacogenomics stands to create..." (Genetic Engineering News, Vol 23(14), 2003)Table of ContentsForeword (F. Collins). Preface. PART I: INTRODUCTION: SCIENCE AND SOCIETY. Public Attitudes About Pharmacogenomics (M. Rothstein, et al.). Pharmacogenomics: Pharmacology and Toxicology in the Genomics (H. Mohrenweiser). The Implications of Population Genetics for Pharmacogenomics (C. Hanis). PART II: RESEARCH AND DEVELOPMENT CHALLENGES AND CONSIDERATIONS. Genome Research and Minorities (H. Greely). Drug Development Strategies (P. Manasco & T. Arledge). Drug Development, Regulation, and Genetically Guided Therapy Pharmacogenomics (D. Feigal & S. Gutman). Intellectual Property and Commercial Aspects of Pharmacogenomics (A. Nunnally, et al.). PART III: CLINICAL APPLICATIONS. Integration of Pharmacogenomics into Medical Practice (G. Omenn & A. Motulsky). Clinical Utility Pharmacogenetics and Pharmacogenomics (N. Holtzman). Medical Liability for Pharmacogenomics (L. Palmer). The Challenges of Pharmacogenomics for Pharmacy Education, Practice, and Regulation (D. Brushwood). PART IV: THE SOCIAL DIMENSION. Economic Implications of Pharmacogenomics (C. Reeder & W. Dickson). Pharmacogenomics and the Social Construction of Identity (M. Foster). Pharmacogenomics: Considerations for Communities of Color (L. Nsiah-Jefferson). Constitutional Issues in the Use of Pharmacogenomic Variations Associated with Race (J. Robertson). PART V: EPILOGUE: POLICY PRESCRIPTIONS (M. Rothstein). Pharmacogenomics and Minority Populations: General Population Survey Questionnaire (M. Rothstein). Index.
£98.96
John Wiley & Sons Inc Opportunities Nutrigenomics The Opportunities and
Book SynopsisAs with all biotechnologies in the midst of rapid growth, nutrigenomics faces ethical, legal, and social implications that are likely to affect the public and the medical community. This title identifies and examines the anticipated risks and expected benefits of nutrigenomics from an ethical perspective.Trade Review"…a worthy acquisition for any medical library…along with students and instructors in nutrition and health care." (CHOICE, June 2007) "This concise overview of nutritional genomics covers a variety of topics surrounding this controversial topic." (Doody's Health Services)Table of ContentsPreface. Acknowledgments. 1 NUTRITIONAL GENOMICS: OPPORTUNITIES AND CHALLENGES. 1.1 Introduction. 1.2 What is Nutritional Genomics? 1.3 Methodology and Approach of this Book. 1.4 Opportunities and Challenges for Nutrigenomics. 1.4.1 Improved health. 1.4.2 Personalized dietary advice. 1.4.3 Improved diet. 1.4.4 More development of health-enhancing food products. 1.4.5 Consumer empowerment. 1.4.6 Reducing health disparities. 1.4.7 Health care savings. 1.5 Challenges and a Road Map of This Book. References. 2 THE SCIENCE OF NUTRIGENOMICS AND NUTRIGENETICS. 2.1 Introduction. 2.2 The Scientific Context. 2.2.1 Nutrigenomics. 2.2.2 Nutrigenetics. 2.3 The Case of MTHFR. 2.4 Room for Improvement. 2.4.1 Study design. 2.4.2 Epigenetics. 2.4.3 SNPs and haplotypes. 2.4.4 Dietary intake assessment. 2.4.5 Biomarkers. 2.4.6 Susceptibility and predictions. 2.4.7 Analytical and clinical validity. 2.4.8 Clinical utility. 2.5 Science and Technology Assessment. 2.6 Conclusion. References. 3 THE ETHICS OF NUTRIGENOMIC TESTS AND INFORMATION. 3.1 Introduction. 3.2 Ethical Principles. 3.3 Nutrigenomics Testing in the Clinical Setting. 3.3.1 Informed consent. 3.3.2 Confidentiality. 3.3.3 Secondary information. 3.3.4 Families. 3.3.5 Genetic testing of children and adolescents. 3.4 Use of Nutrigenomics Information for Research. 3.5 Use of Nutrigenomics Information by Private Third Parties. 3.5.1 Insurance. 3.5.2 Employment. 3.5.3 Legal and social responses to fears of discrimination. 3.6 Conclusion. References. 4 ALTERNATIVES FOR NUTRIGENOMIC SERVICE DELIVERY. 4.1 Introduction. 4.2 Considerations for Nutrigenomic Service Delivery. 4.2.1 Strength of the science. 4.2.2 Regulatory environment. 4.2.3 Human resource capacity and professional competence. 4.2.4 Funding policy. 4.2.5 Professional politics and culture. 4.2.6 Consumers and patients. 4.3 Four Alternative Models. 4.3.1 Consumer model. 4.3.2 Health practitioner model. 4.3.3 Blended models. 4.3.4 Public health model. 4.4 Conclusion. References. 5 NUTRIGENOMICS AND THE REGULATION OF HEALTH CLAIMS FOR FOODS AND DRUGS. 5.1 Introduction. 5.1.1 Genetic tests, service delivery, and genetic antidiscrimination. 5.2 Food Categories: Functional Foods, Nutraceuticals, Medicinal Foods, and Dietary Supplements. 5.2.1 Functional foods. 5.2.2 Nutraceuticals. 5.2.3 Medical or medicinal foods. 5.2.4 Dietary supplements. 5.3 Health-Related Claims Associated with Foods Compared to Drugs. 5.3.1 Structure–function claims. 5.3.2 Health claims. 5.3.3 Medical food claims. 5.3.4 Disease risk reduction claims. 5.4 Nutrigenomic Information and the Regulation of Foods Compared to Drugs. 5.4.1 The regulation of foods. 5.4.2 The regulation of drugs. 5.5 Food and Drug Regulations in Japan, the United States, and Canada. 5.5.1 Japan. 5.5.2 United States. 5.5.3 Canada. 5.6 Conclusion. References. 6 NUTRIGENOMICS: JUSTICE, EQUITY, AND ACCESS. 6.1 Introduction. 6.2 Industrialized Country Context. 6.2.1 Individualized nutrigenomic testing. 6.2.2 Population-based nutrigenomics. 6.3 Developing Country Context. 6.3.1 Individualized nutrigenomic testing. 6.4 Nutrigenomics and Intellectual Property. 6.4.1 An issue of access to scientific information. 6.5 Conclusion. References. 7 CONCLUSIONS AND RECOMMENDATIONS. 7.1 Introduction. 7.1.1 Nutrigenomic science. 7.1.2 Nutrigenomics and health information management. 7.1.3 Nutrigenomic service delivery. 7.1.4 Regulation of nutrigenomics. 7.1.5 Access and equity. 7.2 A Final Word. Index.
£75.56
John Wiley & Sons Inc Population Genetics of Multiple Loci
Book SynopsisPopulation Genetics of Multiple Loci F.B. Christiansen University of Aarhus, Denmark "This is a very beautiful and powerful study of an area that Christiansen has dominated for many years. " - Marcus Feldman, Stanford University, USA Population genetics thrives on the constant interaction between theoretical and empirical knowledge.Trade Review"...a significant contribution to mathematical population genetics...recommended" --Monatshefte fur Mathematik, Vol 131/2, 2000 "This book makes an excellent contribution." --Genetical Research, Vol 75, 2000Table of ContentsInteractions among Genes. RECOMBINATION AND SEGREGATION. Random Mating: Sexes Equal. Random Mating: Sex Difference. Inbreeding: Partial Selfing. Migration and Mixing. Phenotypic Variation. SELECTION. Viability Selection. Symmetric Viability Selection. Fertility Selection. Mutation and Selection. Migration and Selection. Evolution of Recombination. Glossary. References. Index.
£231.26
