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| essential medical genetics tobias: Essential Medical Genetics Edward S. Tobias, Michael Connor, Malcolm Ferguson-Smith, 2011-11-15 Adopted at Cambridge University Essential Medical Genetics provides students, clinicians, counsellors and scientists with the up-to-date information they need regarding the basic principles underlying medical genetics. It also provides guidance on how to apply current knowledge in clinical contexts, covering a wide variety of topics: from genome structure and function to mutations, screening and risk assessment for inherited disorders. This sixth edition has been substantially updated to include, for instance, the latest information on the Human Genome Project as well as several new molecular genetic and chromosome analysis techniques. In full colour throughout, it includes a number of brand new features, including: a large number of self-assessment questions; 'Essentials' chapter summaries; further reading suggestions; and case study scenarios introducing clinical situations. An invaluable new section gives illustrated practical advice regarding how to choose the best available online genetic databases and also, importantly, how to most easily and most efficiently use them, for a wide range of purposes. Essential Medical Genetics is the perfect resource for a course on medical genetics, and is now accompanied by a regularly updated website and the FREE enhanced Wiley Desktop Edition (upon purchase of the book). The companion website at www.wiley.com/go/tobias features figures from the book in PowerPoint format and a link to the authors' website with regularly updated links to genetic databases and additional self-test questions. This title is also available as a mobile App from MedHand Mobile Libraries. Buy it now from iTunes, Google Play or the MedHand Store. |
| essential medical genetics tobias: Essential Medical Genetics Michael Connor, Malcolm Ferguson-Smith, 1997-04-29 Essential Medical Genetics gives a balanced introduction to the basic principles of genetics and how it is applied to the understanding and treatment of diseases with a genetic component. Divided into two sections, basic principles and clinical applications, it covers the information that medical students are taught at the preclinical and clinical levels. This book has been written for clinicians, scientists, counselors and teachers--and any other professionals desiring an understanding of modern medical genetics. |
| essential medical genetics tobias: Essential Medical Genetics James Michael Connor, 1997 The basic principles are clearly explained using the genome and chromosome as the source of pathogenesis in genetic disease. The book includes colour plates to demonstrate modern cytokines and the emphasis is on the essentials of modern medical genetics. |
| essential medical genetics tobias: Medical Genetics for the MRCOG and Beyond James Michael Connor, 2005 |
| essential medical genetics tobias: Human Genetics and Genomics Bruce R. Korf, Mira B. Irons, 2012-11-19 This 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. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today’s genetics teaching, and includes updated discussion of genetic risk assessment, “single gene” disorders and therapeutics. Key learning features include: Clinical snapshots to help relate science to practice 'Hot topics' boxes that focus on the latest developments in testing, assessment and treatment 'Ethical issues' boxes to prompt further thought and discussion on the implications of genetic developments 'Sources of information' boxes to assist with the practicalities of clinical research and information provision Self-assessment review questions in each chapter Accompanied by the Wiley E-Text digital edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at www.korfgenetics.com, including: Factsheets on 100 genetic disorders, ideal for study and exam preparation Interactive Multiple Choice Questions (MCQs) with feedback on all answers Links to online resources for further study Figures from the book available as PowerPoint slides, ideal for teaching purposes The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline. |
| essential medical genetics tobias: Understanding Differences and Disorders of Sex Development (DSD) O. Hiort, S.F. Ahmed, 2014-09-15 Ten years ago a group of experts assembled in Chicago to develop a consensus on the management of conditions previously described as intersex. The consequences of this consensus have been far reaching, including a change in nomenclature, the development of greater collaboration across geographical boundaries, and a move towards greater involvement of patients and parents. Moreover, an international registry was established, as well as research and clinical networks. This book brings together a thorough overview on all these topics. Furthermore, the major technological advances in diagnostic genetic and biochemical capabilities over the past 10 years are outlined in detail. Offering a comprehensive update on various aspects of disorders of sex development (DSD), this book will be essential reading to all clinicians who are involved in delivering health care to patients with a DSD, as well as scientists involved in biomedical research related to DSD. |
| essential medical genetics tobias: Preimplantation Genetic Diagnosis Joyce C. Harper, Joy D. A. Delhanty, Alan H. Handyside, 2001-07-10 Preimplantation Genetic Diagnosis (PGD) is the detection and screening of genetic abnormality in gametes prior to fertilisation and embryos fertilised in vitro prior to implantation. This exciting new text provides an introduction and overview of the principles of PGD. An exciting fusion of prenatal diagnosis (PD) with in vitro fertilisation (IVF), this book is will appeal to both the prenatal diagnosis community, of clinical geneticists and foetal medicine specialists within obstetrics and gynaecology, and the IVF community within reproductive medicine. It is also an essential introduction to PD, clinical genetics and IVF for non-specialists. A concise introduction to the field of PGD Detailed explanations of the techniques and procedures used The law and ethical implications of PGD Future uses of PGD |
| essential medical genetics tobias: Melanoma Development Anja K. Bosserhoff, 2017-01-20 This book focuses on malignant melanoma, discussing the current state of scientific knowledge and providing insights into the underlying basic mechanisms, the molecular changes, genetics and genomics. Human Melanoma is a dangerous type of skin cancer affecting an increasing population, and a better understanding of its development will help in finding sophisticated targeted therapies. The second revised edition features the latest research findings and offers updates on the latest advances and potential novel melanoma therapies. It is a valuable resource for researchers and clinicians working in the fields of melanoma, cancer research and therapy as well as dermatology. |
| essential medical genetics tobias: Essential Medical Statistics Betty Kirkwood, Jonathan Sterne, 2003-06-27 Blackwell Publishing is delighted to announce that this book has been Highly Commended in the 2004 BMA Medical Book Competition. Here is the judges' summary of this book: This is a technical book on a technical subject but presented in a delightful way. There are many books on statistics for doctors but there are few that are excellent and this is certainly one of them. Statistics is not an easy subject to teach or write about. The authors have succeeded in producing a book that is as good as it can get. For the keen student who does not want a book for mathematicians, this is an excellent first book on medical statistics. Essential Medical Statistics is a classic amongst medical statisticians. An introductory textbook, it presents statistics with a clarity and logic that demystifies the subject, while providing a comprehensive coverage of advanced as well as basic methods. The second edition of Essential Medical Statistics has been comprehensively revised and updated to include modern statistical methods and modern approaches to statistical analysis, while retaining the approachable and non-mathematical style of the first edition. The book now includes full coverage of the most commonly used regression models, multiple linear regression, logistic regression, Poisson regression and Cox regression, as well as a chapter on general issues in regression modelling. In addition, new chapters introduce more advanced topics such as meta-analysis, likelihood, bootstrapping and robust standard errors, and analysis of clustered data. Aimed at students of medical statistics, medical researchers, public health practitioners and practising clinicians using statistics in their daily work, the book is designed as both a teaching and a reference text. The format of the book is clear with highlighted formulae and worked examples, so that all concepts are presented in a simple, practical and easy-to-understand way. The second edition enhances the emphasis on choice of appropriate methods with new chapters on strategies for analysis and measures of association and impact. Essential Medical Statistics is supported by a web site at www.blackwellpublishing.com/essentialmedstats. This useful online resource provides statistical datasets to download, as well as sample chapters and future updates. |
| essential medical genetics tobias: Fabry Disease Deborah Elstein, Gheona Altarescu, Michael Beck, 2010-08-02 Fabry disease is an X-linked inborn error of metabolism wherein deficiency of a lysosomal enzyme results in systemic deposition of glycosphingolipids. Storage deposition, and hence pathological disease, occurs preferentially in renal glomerular and tubular epithelial cells, myocardial cells, heart valve fibrocytes, neurons of dorsal root ganglia, and in endothelial smooth muscle cells of blood vessels. Thus, Fabry disease is a multi-system disorder, albeit with considerable phenotypic heterogeneity in onset and in severity; however, it is progressive, exhibits extensive morbidity, and is life-threatening. Within the past two decades, there has been a radical change in the natural course Fabry disease by virtue of the availability of specific enzyme replacement therapy. Moreover, there has been a concerted effort to better understand the underlying pathology and equally to identify patients prior to the onset of irreversible end-organ damage. It is to be hoped that the future for patients with Fabry disease can be viewed with greater, albeit guarded, optimism. This state-of-the-art textbook attempts to bridge the span of pre-clinical studies, clinical finding, and management options in a readable but comprehensive manner for the medical practitioner as well as the interested non-medical reader. |
| essential medical genetics tobias: Nursing Care of Children and Young People with Long-Term Conditions Mandy Brimble, Peter McNee, 2020-12-29 The second edition of Nursing Care of Children and Young People with Long Term Conditions remains the only nursing-specific text on the care of paediatric patients with chronic illness. Written to meet the needs of nursing students and professionals alike, this comprehensive volume provides authoritative and up-to-date information on the context, theory, and practice of delivering holistic care to children and families in a range of health and social care settings. Contributions from a team of experienced academics, educators, and practitioners offer valuable insight into the impact of chronic illness on children and parents, the practical implications of meeting their physical, psychological, and social needs, empowering them to be 'experts' in their care, and many more vital aspects of long-term paediatric care. This edition features new and revised content reflecting contemporary guidelines and evidence-based practice, including updated clinical case studies and a new chapter examining the impact of having a sibling with a long-term condition. Emphasising a multi-disciplinary approach to managing chronic illness, this important resource: Provides numerous case studies and activities illustrating the application of theoretical principles and current evidence in nursing practice Investigates the genetic basis of chronic illness and the differing onsets of long-term conditions Discusses current political, economic, and social policies that are influencing healthcare for children and bringing challenges to managers and practitioners Examines both classic and contemporary theories of grief, loss, coping, and adaptation Explores ethical, legal, and professional aspects of nursing children and young people with chronic illness Addresses evolving nursing roles, the importance of acute emergency care, and the planning and delivery of effective transition from child to adult services Nursing Care of Children and Young People with Long Term Conditions is required reading for student and registered children's nurses, as well as for practitioners in related health and social care disciplines. |
| essential medical genetics tobias: Emery and Rimoin's Essential Medical Genetics David L. Rimoin, Reed E. Pyeritz, Bruce Korf, 2013-05-15 For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice. Developed in parallel to the sixth edition, and featuring 174 original contributions from the many authors of the full set, this one volume work expertly condenses and synthesizes the most clinically relevant content, for convenient desk reference. Helping to bridge the gap between high-level molecular genetics and individual application, it follows the multi-volume set in encompassing scientific fundamentals, full spectrum discussion of major inherited disorders, and actionable therapies. Clinically oriented information is supported by concise descriptions of the principles of genetics, research approaches, and analytics to embrace the evolving population of students, researchers, and practitioners who are integrating their work to provide advanced diagnosis, prevention and treatment of human disease. This print volume is complemented and enhanced with online access to the complete text, online-only references, and high quality illustrations on www.expertconsult.com. Features 174 summarized contributions concisely discussing advances in cancer genetics, genomic technologies, and molecular genetics Contains hundreds of full colour illustrations supporting users with identification, concept illustration, and method processing Enhanced with full text online access, high quality illustrations, and online-only references at www.expertconsult.com |
| essential medical genetics tobias: Essential Neurosurgery Andrew H. Kaye, 2009-02-12 Essential Neurosurgery provides a comprehensive introductionto neurosurgery for junior surgical trainees and medical students.The book concentrates on the principles of neurosurgical diagnosisand management of the more common central nervous system problems,including an understanding of neurology and the pathological basisof neurological disease. There is also coverage of neurosurgicaltechniques and postoperative patient management. This new edition brings the text fully up to date and includesmany of the biological and technological advances made in the fieldof neurosurgery that have improved surgical possibilities andpatient outcomes. Review quotations from the previous edition ‘flowing and well highlighted text keeps the readerinterested in the subject’ British Journal of Neurosurgery ‘an excellent text…well organised and clearly setout’ Journal of Neurology, Neurosurgery and Psychiatry |
| essential medical genetics tobias: Brenner's Encyclopedia of Genetics Stanley Maloy, Kelly Hughes, 2013-03-03 The explosion of the field of genetics over the last decade, with the new technologies that have stimulated research, suggests that a new sort of reference work is needed to keep pace with such a fast-moving and interdisciplinary field. Brenner's Encyclopedia of Genetics, Second Edition, Seven Volume Set, builds on the foundation of the first edition by addressing many of the key subfields of genetics that were just in their infancy when the first edition was published. The currency and accessibility of this foundational content will be unrivalled, making this work useful for scientists and non-scientists alike.Featuring relatively short entries on genetics topics written by experts in that topic, Brenner's Encyclopedia of Genetics, Second Edition, Seven Volume Set provides an effective way to quickly learn about any aspect of genetics, from Abortive Transduction to Zygotes. Adding to its utility, the work provides short entries that briefly define key terms, and a guide to additional reading and relevant websites for further study. Many of the entries include figures to explain difficult concepts. Key terms in related areas such as biochemistry, cell, and molecular biology are also included, and there are entries that describe historical figures in genetics, providing insights into their careers and discoveries. This 7-volume set represents a 25% expansion from the first edition, with over 1600 articles encompassing this burgeoning field Thoroughly up-to-date, with many new topics and subfields covered that were in their infancy or not inexistence at the time of the first edition. Timely coverage of emergent areas such as epigenetics, personalized genomic medicine, pharmacogenetics, and genetic enhancement technologies Interdisciplinary and global in its outlook, as befits the field of genetics Brief articles, written by experts in the field, which not only discuss, define, and explain key elements of the field, but also provide definition of key terms, suggestions for further reading, and biographical sketches of the key people in the history of genetics |
| essential medical genetics tobias: The Surgery of Childhood Tumors Robert Carachi, Jay L. Grosfeld, 2016-04-28 Beginning with the scientific basis of tumors, this book provides up-to-date information on epidemiology, cytogenetics, and molecular biology, before examining current treatments for the full range of pediatric tumors. Integration of surgery, neoadjuvant and adjuvant chemotherapy, and radiation therapy is a dominant theme. In addition, chapters on supportive care, palliative care, and the role of parents’ associations reflect the book's holistic approach. All chapters are written by world-renowned international authorities on pediatric cancer from major children's cancer groups. Excellent full-color pictures and line drawings illustrate all aspects of managing childhood tumors, including details of operative techniques neglected in many other texts. This comprehensive book, expanded and updated to encompass the very latest developments and strategies, provides a contemporary approach for pediatric, general, and urological surgeons dealing with childhood tumors. |
| essential medical genetics tobias: Care of Adults with Chronic Childhood Conditions Alice A Kuo, Mariecel Pilapil, David E. DeLaet, Cynthia Peacock, Niraj Sharma, 2024-07-18 This book addresses the unique healthcare needs of adults with chronic childhood illnesses. It presents a model of primary and secondary prevention for emerging adulthood: primary prevention, in which all young adults are screened for high-risk behaviors and health needs, and secondary prevention, in which young adults with chronic childhood conditions are optimized through coordinated care, connections to community resources and social/family support. Now in its revised and expanded second edition, this book is organized in seven parts. Part I provides a detailed overview of the health care transition from pediatrics to adult medicine from both a policy and practice perspective. New topics in this section include telemedicine as a tool to optimize transition care and systems of care/models of care that include practical steps on how to get transition/transfer done or care for these patients in the appropriate setting. In Part II, the concept of emerging adulthood as a developmental period is explored and strategies for providing improved comprehensive care for this age group are discussed. A section on addressing health maintenance has been added to this edition. Part III reviews specific chronic childhood conditions, such as attention-deficit/hyperactivity disorder, autism, cystic fibrosis, and diabetes mellitus, and offers clinical cases and summary reports that can be used as a quick guides to each condition. Several new conditions have been added to this section, including metabolic issues/conditions, eating disorders, transgender medicine and childhood endocrine conditions. Section IV is a completely new section that focuses on hospital medicine. Chapters within this section include pre-op clearance, maintaining safety, neurodiversity considerations, ER issues and triaging, emergencies, contact with PCP, adult issues not addressed, pediatric issues often overlooked, inpatient transition policies, procedures, Med-Peds/Transition, palliative care/hospice and unique inpatient cases. In Part V, additional clinical considerations that are not necessarily condition-specific but are highly relevant to the care of young adults with chronic childhood conditions are examined. Part VI describes the socio-legal issues involved in caring for this population. Finally, part VII is another completely new section that focuses on public health and population considerations. Chapters in this section include telemedicine, disaster preparedness, quality improvement, health care services, mental health/psychiatry, neurodiversity and addressing equity and racism. Written by experts in the field, Care of Adults with Chronic Childhood Conditions, 2e provides primary care providers with a new framework for the care of young adults and identifies opportunities to influence patient health outcomes over a life trajectory. |
| essential medical genetics tobias: Care of Adults with Chronic Childhood Conditions Mariecel Pilapil, David E. DeLaet, Alice A. Kuo, Cynthia Peacock, Niraj Sharma, 2016-11-24 This book addresses the unique healthcare needs of adults with chronic childhood illnesses. It presents a model of primary and secondary prevention for emerging adulthood—primary prevention in which all young adults are screened for high-risk behaviors and health needs and secondary prevention in which young adults with chronic childhood conditions are optimized through coordinated care, connections to community resources and social/family support. This book is organized in five parts. Part I provides a detailed overview of the health care transition from pediatrics to adult medicine from both a policy and practice perspective. In Part II, the concept of emerging adulthood as a developmental period is explored and strategies for providing improved comprehensive care for this age group are discussed. Part III reviews specific chronic childhood conditions, such as attention-deficit/hyperactivity disorder, autism, cystic fibrosis, and diabetes mellitus, and offers clinical cases and summary reports that can be used as a quick guides to each condition. In Part IV, additional clinical considerations that are not necessarily condition-specific but are highly relevant to the care of young adults with chronic childhood conditions are examined. Part V describes the socio-legal issues involved in caring for this population. Care of Adults with Chronic Childhood Conditions provides primary care providers with a new framework for the care of young adults and identifies opportunities to influence patient health outcomes over a life trajectory. |
| essential medical genetics tobias: Fundamentals of Infection Prevention and Control Debbie Weston, 2013-07-03 Reviews of first edition: “This book tells every healthcare professional all they need to know about infection control... A user-friendly, valuable source of knowledge on a subject that can be confusing and complicated.” Nursing Standard “A valuable contribution within any health or social environment. Journal of Community Nursing Infection prevention and control is an essential component of nursing care, and a crucially important subject area for both nursing students and qualified nurses. Fundamentals of Infection Prevention and Control gives readers a firm grasp of the principles of infection control, how they relate to clinical practice and the key issues surrounding the subject. It provides a comprehensive guide to the prevention, management and control of healthcare associated infections, and the basic elements of microbiology, immunology and epidemiology that underpin them. Thoroughly revised in line with current policy, this new edition contains brand-new chapters on a range of topics including the role of the Infection Prevention and Control Team, audit and surveillance, and the management of outbreaks. Also incorporating a range of case studies and examples as well as additional online content, it is essential reading for all nursing students as well as qualified nursing and healthcare professionals. Explores both principles and practice of a crucial subject area Accessible and user-friendly, with a range of features to help study including key definitions, links back to clinical practice, and chapter learning outcomes and summaries Accompanied by an online resource centre featuring MCQs, weblinks, case scenarios and downloadable fact sheets Features an increased clinical focus, with more application to practice This title is also available: as a Wiley E-Text, powered by VitalSource: an interactive digital version of the book featuring downloadable text and images, highlighting and note-taking facilities, book-marking, cross-referencing, in-text searching, and linking to references and glossary terms instantly on CourseSmart at www.coursesmart.co.uk/9781118306659. CourseSmart offers extra functionality, as well as an immediate way to review the text. For more details, visit www.coursesmart.com/instructors or www.coursesmart.com/students |
| essential medical genetics tobias: Integrated Medical Sciences Shantha Perera, Ho Leung, Rousseau Gama, Stephen Anderson, 2007-06-05 This book is a concise, accessible problem-based approach to the subject using case scenarios to facilitate students taking their pre-clinical or basic sciences examinations. Using a family of characters in each case scenario, the text reflects the current changes in medical and biomedical science teaching that is increasingly moving towards a more integrated approach through-problem-based learning. The characters, all members of an extended family, appear in several scenarios and the student becomes familiar with their personalities and their disease processes. Each scenario covers the relevant anatomy, physiology, pathology, pharmacology, microbiology, immunology and biochemistry and enables the reader to grasp the key concepts of basic medical sciences in an integrated fashion. Key Features: Takes an integrated approach to the subject to reflect recent changes in medical and biomedical science curriculum Further Study sections to enhance understanding and enable the student to read around the subject Intended learning outcomes included at the beginning of each chapter Trigger Boxes containing key facts and revision questions included throughout to ensure key concepts are fully understood Integrated Medical Sciences: The Essentials is an essential text for first and second year undergraduates taking medical or biomedical sciences (during the pre-clinical phase for medical students.). The book is also an invaluable resource for nursing degree students and allied health students taking courses in dentistry, physiotherapy and pharmacy. In addition, the book is ideal for US and international medical students preparing for the USMLE Step 1 examination. |
| essential medical genetics tobias: Minor Injury and Minor Illness at a Glance Francis Morris, Jim Wardrope, Shammi Ramlakhan, 2014-05-05 This brand new title provides a highly illustrated and unambiguous introduction to most common presentations encountered in GP surgeries, in minor injury units and emergency departments. It provides the basic information required to identify and manage these conditions, as well as highlighting the pitfalls and the key diagnoses not to be missed. Minor Injury and Minor Illness at a Glance: Presents the perfect combination of text and image; double page spreads enable quick access to information for readers in a pressurised environment Covers a wide range of minor injuries and illnesses in one illustrated, full colour volume Identifies key diagnoses not to be missed with red flags Contains Short Answer Questions (SAQs) to help test learning and recognition Includes a companion website featuring Short Answer Questions (SAQs) and flashcards, available at www.ataglanceseries.com/minorinjury Minor Injury and Minor Illness at a Glance is the perfect preparation guide or aide memoire for placements in acute or primary care, ideal for medical students, junior doctors, GP trainees and nurse practitioners. |
| essential medical genetics tobias: A Practical Guide to Human Cancer Genetics Shirley V. Hodgson, Eamonn R. Maher, 1999 This extensively updated and expanded edition provides the busy clinician with an essential overview of the latest developments in human cancer genetics--an area that has made significant advances since publication of the first edition. The opening section presents the principles of cancer genetics and introduces the basic concepts and mechanisms of tumorigenesis and inherited predisposition to cancer. The second part of the book provides information, on a systems basis, on the incidence, significance and management of predisposition to individual cancers. The final section deals with specific inherited cancer syndromes, giving practical guidance on clinical investigation, screening and management of affected patients and relatives at risk. The authors also provide up-to-date details of the genetic mapping of inherited cancer syndromes and the molecular genetic changes in individual cancers. Finally, an appendix provides a helpful revision guide to the fundamental principles of genetics. This practical and clear account will benefit clinicians and research workers in oncology, genetics, surgery and general medicine. |
| essential medical genetics tobias: Manual of Cytogenetics in Reproductive Biology Pankaj Talwar, 2014-02-28 Cytogenetics is the study of the structure and function of the cell, particularly chromosomes. Manual of Cytogenetics in Reproductive Biology examines the diagnostic role of cytogenetics in improving the outcome of assisted reproductive technologies (ART). Divided into six sections, the book begins with the basics of genetics, followed by investigative cytogenetics, applied cytogenetics, recent advances, preimplantation and prenatal cytogenetics. This comprehensive guide includes nearly 200 clinical images, diagrams and tables, and is an invaluable reference for practising specialists in genetics, infertility and obstetrics and gynaecology. Key points Examines diagnostic role of cytogenetics in improving outcome of ART Six sections each providing in depth coverage of different aspects of cytogenetics Includes nearly 200 clinical images, diagrams and tables Invaluable for specialists in genetics, infertility and OBSGY |
| essential medical genetics tobias: Training in Medicine Elaine Jolly, Andrew Fry, Afzal Chaudhry, 2016-07-28 Oxford Specialty Training is a specialty revision series for postgraduate trainees taking into account the training structures and syllabuses and the busy lives of junior doctors. Training in Medicine is a complete guide to early years specialty training in medicine, and particularly focuses on core medical training. Essential for those taking the MRCP, the book covers all of the relevant areas in general medicine training, including epidemiology, evidence based medicine, and professional related issues. Each chapter covers the basic science and clinical topics which trainees are required to learn as part of their basic training and demonstrate in the MRCP. This book is authored by both trainees and specialists, and has been comprehensively edited and peer-reviewed by both groups in order to create an authoritative yet accessible text. Easy navigation is combined with discrete double-page spreads on individual topics allowing rapid access to information, making the book extremely useful in clinical practice. This is complemented by over 600 full colour illustrations, including high quality clinical photographs, images and diagrams, to aid visual memory of the topics. Breakout boxes highlight the key learning points. The organisation of the material is unique, and the topic-based design ensures easy navigation, and structured revision and learning. |
| essential medical genetics tobias: Genomics, An Issue of Nursing Clinics Stephen D. Krau, 2013-12-28 This issue of Nursing Clinics of North America is Guest Edited by Stephen D. Krau, PhD, RN, CNE, from Vanderbilt University and will focus on genomics. Article topics will include Genetic and Genomic Testing, Integrating Genomics into Research, Genomic Assessments and Interventions in Psychiatric Nursing Practice, Genomics in Critical Care, Cardiomyopathy and Genetics, Genetics and Chronic Diseases, Genomics and Patients with Rare Chronic Diseases, Epigenetics and the implications for disease processes, Impact of Genetics on Oncology Nursing, and Pharmacogenetics. |
| essential medical genetics tobias: Anatomy and Physiology for Midwives E-Book Jane Coad, Kevin Pedley, Melvyn Dunstall, 2019-09-06 This is a new edition of a highly popular text which presents the fascinating field of reproductive anatomy and physiology in a style which is perfect for student midwives. Presenting often complex information in an easy-to-understand manner, this useful volume builds up from the founding principles of human structure and function through to conception, embryological development and foetal growth, parturition and the transition to neonatal life. Fully updated throughout with the latest advances in the field, additional topics include sexual differentiation and behaviour, human genetics and genetic disorders, immunology, and maternal and infant nutrition. Containing over 200 line artworks to support the text, each chapter comes with Learning Outcome boxes, Case Studies, Key Points and Application to Practice boxes, all of which reinforce learning and help 'bring the subject to life'. A well-established introduction to the science underpinning modern midwifery practice, Anatomy and Physiology for Midwives 4th edition will be ideal for all students of midwifery, including anyone returning to practice. - Highly popular midwifery resource that explains the principles of reproductive A&P in an accessible and friendly manner - Learning Objectives at the start of each chapter help readers structure their study time - Case Studies 'bring the subject to life' and provide an opportunity to reflect on the implications for clinical practice - Acknowledges the importance of underlying research and integrates theory and practice - End of chapter Key Points and Application to Practice boxes further reinforce learning - Helps midwives deal with questions from increasingly informed 'parents to be' - More than 200 illustrations help clarify sometimes complex anatomical, physiological and clinical information - New authorship brings additional expertise into the areas of cell physiology and research, particularly its clinical application to fertility and parturition - An upgraded artwork program enhances the look and feel of the book - Contains updates in the fast-moving field of reproductive physiology such as recent advances in fertility treatment, postnatal care of premature infants, and the impact of the gestational environment and early nutrition on later health - Updated case studies reflect areas of advancing midwifery practice |
| essential medical genetics tobias: Cytogenetic Abnormalities Susan Mahler Zneimer, 2014-09-22 Cytogenetics is the study of the structure and function of chromosomes in relation to phenotypic expression.Chromosomal abnormalities underlie the development of a wide variety of diseases and disorders ranging from Down syndrome to cancer, and are of widespread interest in both basic and clinical research. Cytogenetic Abnormalities: Chromosomal, FISH, and Microarray-Based Clinical Reporting is a practical guide that describes cytogenetic abnormalities, their clinical implications and how best to report and communicate laboratory findings in research and clinical settings. The text first examines chromosomal, FISH, and microarray-based analyses in constitutional disorders. Using these same methodologies, the book's focus shifts to acquired abnormalities in cancers. Both sections provide illustrative examples of cytogenetic abnormalities and how to communicate these findings in standardized laboratory reports. Providing both a wealth of cytogenetic information, as well as practical guidance on how best to communicate findings to fellow research and medical professionals, Cytogenetic Abnormalities will be an essential resource for cytogeneticists, laboratory personnel, clinicians, research scientists, and students in the field. A guide to interpreting and reporting cytogenetic laboratory results involved in constitutional disorders and cancers Guides the reader on implementing the International System for Human Cytogenetic Nomenclature in written reports Provides information to allow scientists and medical professionals to fully understand and communicate cytogenetic abnormalities Describes a wide array of cytogenetic abnormalities observed in the laboratory Divided into user-friendly sections devoted to methodologies and implications of specific diseases |
| essential medical genetics tobias: Medical Genetics at a Glance Dorian J. Pritchard, Bruce R. Korf, 2013-09-23 Medical Genetics at a Glance covers the core scientific principles necessary for an understanding of medical genetics and its clinical applications, while also considering the social implications of genetic disorders. This third edition has been fully updated to include the latest developments in the field, covering the most common genetic anomalies, their diagnosis and management, in clear, concise and revision-friendly sections to complement any health science course. Medical Genetics at a Glance now has a completely revised structure, to make its content even more accessible. Other features include: Three new chapters on Gene Identification, The Biology of Cancer, and Genomic Approaches to Cancer A much extended treatment of Biochemical Genetics A completely revised chapter on The Cell Cycle, explaining principles of biochemistry and genetics which are fundamental to understanding cancer causation Two new chapters on Cardiac Developmental Pathology An extended Case Studies section Providing a broad understanding of one of the most rapidly progressing topics in medicine, Medical Genetics at a Glance is perfect for students of medicine, molecular biology, genetics and genetic counselling, and is a previous winner of a BMA Award. |
| essential medical genetics tobias: Cytogenetic Laboratory Management Susan Mahler Zneimer, 2017-01-27 Cytogenetic Laboratory Management Cytogenetic Laboratory Management Chromosomal, FISH and Microarray-Based Best Practices and Procedures Cytogenetic Laboratory Management: Chromosomal, FISH and Microarray-Based Best Practices and Procedures is a practical guide that describes how to develop and implement best practice processes and procedures in the genetic laboratory setting. The text first describes good laboratory practices, including quality management, design control of tests, and FDA guidelines for laboratory-developed tests, and preclinical validation study designs. The second focus of the book is on best practices for staffing and training, including cost of testing, staffing requirements, process improvement using Six Sigma techniques, training and competency guidelines, and complete training programs for cytogenetic and molecular genetic technologists. The third part of the text provides stepwise standard operating procedures for chromosomal, FISH and microarray-based tests, including preanalytic, analytic, and postanalytic steps in testing, which are divided into categories by specimen type and test type. All three sections of the book include example worksheets, procedures, and other illustrative examples that can be downloaded from the Wiley website to be used directly without having to develop prototypes in your laboratory. Providing a wealth of information on both laboratory management and molecular and cytogenetic testing, Cytogenetic Laboratory Management will be an essential tool for laboratorians worldwide in the field of laboratory testing and genetic testing in particular. This book gives the essentials of: Developing and implementing good quality management programs in laboratories Understanding design control of tests and preclinical validation studies and reports FDA guidelines for laboratory-developed tests Use of reagents, instruments, and equipment Cost of testing assessment and process improvement using Six Sigma methodology Staffing training and competency objectives Complete training programs for molecular and cytogenetic technologists Standard operating procedures for all components of chromosomal analysis, FISH, and microarray testing of different specimen types This volume is a companion to Cytogenetic Abnormalities: Chromosomal, FISH and Microarray-Based Clinical Reporting. The combined volumes give an expansive approach to performing, reporting, and interpreting cytogenetic laboratory testing and the necessary management practices, staff and testing requirements. |
| essential medical genetics tobias: Anatomy and Physiology for Midwives,with Pageburst online access,3 Jane Coad, Melvyn Dunstall, 2011-01-01 Printed book plus PageburstT access. You will receive a printed book and access to the complete book content electronically. PageburstT enhances learning not only by bringing world class content to your fingertips but also by letting you add to it, annotate it, and categorize it in a way that suits you. PageburstT frees you to spend more time learning and less time searching. Anatomy & Physiology for Midwives 3rd edition builds on the success of the first two editions with electronic ancillaries, more accessible, woman-centred language and strengthened links with good practice. The book provides a thorough review of anatomy and physiology applicable to midwifery, from first principles through to current research, utilizing case studies for reflection. A comprehensive and well-illustrated textbook that is an essential purchase for all students of midwifery. |
| essential medical genetics tobias: Self-Harm in Young People: A Therapeutic Assessment Manual Dennis Ougrin, Tobias Zundel, Audrey V Ng, 2009-08-28 Self-harm is a distressing and all too common presentation to emergency departments, and yet there is no clear understanding of what it represents, and success rates of interventions to prevent future episodes are enormously variable.Therapeutic Assessment for self-harm is a pragmatic model, developed by the authors of this book and forming an orga |
| essential medical genetics tobias: How To Hide Anything Michael Connor, 1984-04-01 With little effort and expense, you can hide cash, armaments and even family from the menacing eyes of burglars, terrorists or anyone. Learn how to construct dozens of hiding places right in your house and yard. Here are small hiding places for concealing money and jewelry and large places for securing survival supplies or persons. More than 100 drawings show how to turn ordinary items into extraordinary hiding places. |
| essential medical genetics tobias: Newborn Surgery 3E Prem Puri, 2011-11-25 Newborn Surgery, Third Edition provides a comprehensive compendium of the pathophysiology, investigation and management of neonatal disorders. Areas covered include in this new edition include: Preoperative assessment Anesthesia Postoperative management Nutrition Ethical considerations in newborn surgery Head, neck, and chest surgery Esophagus and gastrointestinal tract surgery Liver and biliary tract surgery Anterior abdominal wall defects Tumors Spina bifida and hydrocephalus Genitourinary issues Long-term outcomes in newborn surgery With its uniquely comprehensive coverage of neonatal surgical specialties, this book is the first stop for anyone looking to supplement their knowledge in this broad and increasingly disparate field, including pediatric surgeons, general surgeons with pediatric practice, neonatologists, pediatricians, and pediatric radiologists. |
| essential medical genetics tobias: Nursing Care of Children and Young People with Long-Term Conditions Mandy Brimble, Peter McNee, 2021-03-15 The second edition of Nursing Care of Children and Young People with Long Term Conditions remains the only nursing-specific text on the care of paediatric patients with chronic illness. Written to meet the needs of nursing students and professionals alike, this comprehensive volume provides authoritative and up-to-date information on the context, theory, and practice of delivering holistic care to children and families in a range of health and social care settings. Contributions from a team of experienced academics, educators, and practitioners offer valuable insight into the impact of chronic illness on children and parents, the practical implications of meeting their physical, psychological, and social needs, empowering them to be 'experts' in their care, and many more vital aspects of long-term paediatric care. This edition features new and revised content reflecting contemporary guidelines and evidence-based practice, including updated clinical case studies and a new chapter examining the impact of having a sibling with a long-term condition. Emphasising a multi-disciplinary approach to managing chronic illness, this important resource: Provides numerous case studies and activities illustrating the application of theoretical principles and current evidence in nursing practice Investigates the genetic basis of chronic illness and the differing onsets of long-term conditions Discusses current political, economic, and social policies that are influencing healthcare for children and bringing challenges to managers and practitioners Examines both classic and contemporary theories of grief, loss, coping, and adaptation Explores ethical, legal, and professional aspects of nursing children and young people with chronic illness Addresses evolving nursing roles, the importance of acute emergency care, and the planning and delivery of effective transition from child to adult services Nursing Care of Children and Young People with Long Term Conditions is required reading for student and registered children's nurses, as well as for practitioners in related health and social care disciplines. |
| essential medical genetics tobias: SBAs for the MRCOG Part 1 Babu Karavadra, Richard A. Haines, Medha Sule, 2024-05-02 SBAs for the MRCOG Part 1 is a question-and-answer style revision guide designed to help candidates prepare for Papers 1 and 2 of the MRCOG Part 1 examination. Mapped to the exam syllabus, the book contains 500 single-best-answer (SBA) questions carefully written to reflect fundamental areas of the curriculum, along with explanatory answers based on the most recent Green-top Guidelines from the Royal College of Obstetricians and Gynaecologists (RCOG) and journal articles from The Obstetrician and Gynaecologist (TOG). The questions test knowledge of the basic sciences as well as considerations relevant to day-to-day clinical practice to help candidates to understand the wider context of their learning. Alongside the Q&As for the individual curriculum areas, the book contains two 100-question mock papers to help candidates feel fully prepared for the real exam. Providing a thorough assessment of the key topics and expert guidance, this is an essential resource for obstetrics and gynaecology trainees looking to maximise their exam success. |
| essential medical genetics tobias: Postgraduate Orthopaedics Paul A. Banaszkiewicz, Deiary F. Kader, 2017-01-26 Providing core orthopaedic knowledge, tactics and pre-exam planning, this is the definitive guide to the FRCS (Tr & Orth) examination. |
| essential medical genetics tobias: Pediatric Urogenital Radiology Michael Riccabona, 2018-07-12 This third edition of Pediatric Urogenital Radiology has been thoroughly updated to take account of the recent advances in the imaging and treatment of pediatric nephro-urologic disorders that have been achieved over the past years. A number of new chapters have been included on topics such as the role of ultrasound and MRI for urogenital imaging in the fetus and the use of contrast media in childhood. Other chapters have been extensively revised or rewritten, while information that continues to be pertinent has been retained. The book describes in detail all aspects of pediatric urogenital radiology. It is written primarily from the point of view of the radiologist, but also includes essential clinical information from and for the pediatrician, pediatric surgeon, and urologist. It is specifically designed to aid the clinician in making decisions on imaging management, and to help the radiologist to understand the clinical background and needs. The newest techniques and the changing relevance of imaging and interventional procedures are described, and the diverse problems associated with the changing anatomy, physiology, and pathophysiology from the newborn period to adulthood are explained. The whole spectrum of imaging features of agenesis, anomalies and malformations, dysplasia, parenchymal and cystic diseases, urolithiasis, neoplastic diseases, renal vascular hypertension, renal failure, renal transplantation, pre-and postoperative imaging, and genitourinary trauma is covered. Individual chapters are devoted to vesicoureteric reflux, urinary tract infection, congenital urinary tract dilatation, upper urinary tract dilatation, voiding dysfunction, and neurogenic bladder. A chapter on the clinical management of common nephrourologic disorders explains how imaging is embedded in the whole process of clinical management. Short conclusions are included at the end of chapters and sections to highlight the key information. |
| essential medical genetics tobias: Muir's Textbook of Pathology C Simon Herrington, 2020-03-16 This classic text sets a standard in this subject by outlining the scientific aspects that underlie pathological processes, relating these to specific organ systems and placing all in a context that the student of medicine or pathology can appreciate, understand and enjoy. The clearly defined and easy-to-follow structure, enhanced by numerous photographs and explanatory line diagrams, focuses on core material without neglecting novel concepts and up-to-the minute detail. A one-stop-shop in pathology, it reflects fully the integration of pathology into clinical teaching whether system or problem-based, and will take the student right through medical school and beyond to postgraduate training. |
| essential medical genetics tobias: Disease Gene Identification Johanna K. DiStefano, 2019-06-06 This volume presents detailed laboratory procedures in an easy to follow format that can be carried out with success by investigators lacking previous exposure to a specific research method. Chapter guide readers through the application of molecular approaches to disease gene identification and overviews, and case studies are also presented. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and practical, Disease Gene Identification: Methods and Protocols, Second Edition aims to help with the identification and characterization of many more disease-related genes and provide novel, and effective strategies for disease treatment and prevention. |
| essential medical genetics tobias: Essential Pathophysiology For Nursing And Healthcare Students Richards, Ann, Edwards, Sharon, 2014-09-01 This book is the perfect quick reference or study guide for students covering disease and therapeutics as part of a nursing or other healthcare course. |
| essential medical genetics tobias: Best of Five MCQs for the MRCP Part 1 Volume 1 Iqbal Khan, 2017-10-05 Best of Five MCQs for the MRCP Part 1 volumes 1-3 offers a comprehensive and trustworthy solution to anybody wishing to sit, pass, and excel at the Membership of the Royal College of Physicians Part 1 examination. Presented as a unique three-volume set, each volume features 375 high-quality practice questions on each of the medical systems and specialties in alphabetical order. Volume 1 features 375 Best of Five questions on clinical sciences, clinical haematology and oncology, cardiology, and clinical pharmacology, therapeutics and toxicology. All 375 questions contain questions written and reviewed by successful candidates and previous examiners, and are accompanied by detailed explanations and further reading, ensuring complete and successful revision for this challenging exam. Matched to the latest Royal College curricula in coverage and format, this dedicated resource provides readers with an accurate, authoritative and evidence-based companion to the MRCP Part 1. |
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