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The second edition of this textbook written for undergraduate students, graduate students and medical researchers, Genetics and Genomics in Medicine explains the science behind the uses of genetics and genomics in medicine today, and how it is being applied.Maintaining the features that made the first edition so popular, this second edition has been thoroughly updated in line with the latest developments in the field. DNA technologies are explained, with emphasis on the modern techniques that are revolutionizing the use of genetic information in medicine and indicating the role of genetics in common diseases. Epigenetics and non-coding RNA are covered in-depth as are genetic approaches to treatment and prevention, including pharmacogenomics, genetic testing, and personalized medicine. A dedicated chapter charts the latest insights into the molecular basis of cancers, cancer genomics and novel approaches to cancer detection. Coverage of genetic testing at the level of genes, chromosomes and genomes has been significantly expanded and updated. Extra prominence has been given to additional genomic analyses, ethical aspects, and novel therapeutic approaches. Various case studies illustrate selected clinical applications.Key Features Comprehensive and integrated account of how genetics and genomics affect the entire spectrum of human health and disease Exquisite artwork illuminates the key concepts and mechanisms Summary points at the end of each chapter help to consolidate learning For each chapter, an abundance of further reading to help provide the reader with direction for further study Inclusive online question bank to test understanding Standard boxes summarizing certain key principles in genetics Clinical boxes summarizing selected case studies, pathogenesis mechanisms or novel therapies for selected diseases This book is equally suited for newcomers to the field as well as for engineers and scientists that have basic knowledge in this field but are interested in obtaining more information about specific future applications.

Long recognized as a leading textbook in this fast-moving field, Emery's Elements of Medical Genetics and Genomics offers current, complete information with a strong basis in practical clinical genetics and genomics for medical school and beyond. The 16th Edition of this award-winning text has been thoroughly updated throughout and includes case-based and multiple-choice questions, end-of-chapter summaries, an extensive glossary, and convenient online access, making it an ideal choice for all medical undergraduates as well as postgraduates seeking to improve their understanding and knowledge. Includes new case-based studies with questions and answers throughout, in addition to multiple-choice self-assessment questions for study and review. Covers key topics such as pharmacogenetics, personalized medicine, prenatal testing, reproductive genetics, and ethical and legal issues in medical genetics. Divides the text into three easy-to-use sections: The Scientific Basis of Human Genetics, Genetics in Medicine and Genomic Medicine, and Clinical Genetics, Counseling and Ethics Features full-color illustrations and other images that help readers visualize the appearance of genetic disorders and assist with the understanding of complex genetic structures. Contains learning features such as summary boxes, an extensive glossary of terms, online hyperlinks to important genetics websites and clinical databases, and more. Presents the extensive knowledge and experience of distinguished editors Peter D. Turnpenny and Sian Ellard, as well as new editor Ruth Cleaver. Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.

Up to date and extensively revised to reflect recent advances in the genetics of common diseases, as well as current progress in gene therapy, Medical Genetics, 6th Edition, delivers easy-to-read, highly visual coverage of this rapidly changing field. This accessible, practical text integrates key concepts with clinical practice, highlighted by numerous illustrations, tables, concept summaries, and more - all designed to enhance effective learning and retention of complex material. Discusses current topics including polygenic risk scores and their potential applications for diabetes, cancer, and heart disease, and the latest sequencing technologies and their clinical application in genetic testing and diagnosis. Offers a completely updated discussion of genetic testing modalities and applications. Includes convenient concept summaries, more than 230 photographs, illustrations, and tables, as well as patient/family vignettes that present valuable perspectives on disease and treatment. Features Clinical Commentary boxes that demonstrate how the hard science of genetics has real applications to everyday patient problems, preparing you for problem-based integrated courses. Illustrates key concepts with disease examples to demonstrate relevance to medicine. Provides study questions for self-assessment, as well as 200 additional USMLE-style questions online. Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.

Easy to use, and useful when kept close at hand in the room where you work. The book is a pleasure to read: the style elegant and authoritative.' Lancet'...this book is a wonderful reference to enable primary physicians to be informed about their patients.' Annals of Internal MedicineUniversally used across the world by genetic counsellors, medical geneticists and clinicians alike, Harper's Practical Genetic Counselling has established itself as the essential guide to counselling those at risk from inherited disorders.Increasingly, common disorders are known to have a genetic component and this book provides invaluable and up to date guidance through the profusion of new information in this area and the associated psychosocial and ethical considerations and concerns.Within its established, tried and trusted framework, the book contains new chapters on: laboratory methods, new genetic sequencing techniques and the applications of genome-wide SNP association studies, genetic susceptibility, cross cultural aspects and the genetic counselling process. It has expand chapters on genetic screening and screening of newborn, treatment techniques and rational approaches to treatment, non-Mendelian inheritance, free fetal DNA in prenatal screening and diagnosis.Key features:- Fully updated to provide the very latest information when in a busy consulting room or clinic- Clear and authoritative advice applicable to everyday clinical practice- Reflects the rapid development of knowledge in this area, including the implications of the human genome project and related technologyThe eighth edition of this popular, best selling text continues to be an essential source of reference for trainee and practitioner genetic counsellors, medical geneticists and clinicians. Also it provides valuable background for specialist nurses, counsellors, social scientists, ethicists as well as genetics laboratory staff.

L'attività didattica e di apprendimento del corso è proposta all'interno di un ambiente digitale per lo studio, che ha l'obiet

La biologia è in continua evoluzione: nuove ipotesi si traducono in nuove conoscenze, ma anche in nuovi spunti di ricerca e nu

Human Molecular Genetics has been carefully crafted over successive editions to provide an authoritative introduction to the molecular aspects of human genetics, genomics and cell biology.Maintaining the features that have made previous editions so popular, this fifth edition has been completely updated in line with the latest developments in the field. Older technologies such as cloning and hybridization have been merged and summarized, coverage of newer DNA sequencing technologies has been expanded, and powerful new gene editing and single-cell genomics technologies have been added. The coverage of GWAS, functional genomics, stem cells, and disease modeling has been expanded. Greater focus is given to inheritance and variation in the context of populations and on the role of epigenetics in gene regulation.

Testo fondamentale per l'istruzione medica nel quale sono approfondite le basi genetiche delle patologie umane e sono analizzate le possibilità di diagnosi e di assistenza personalizzata. Tra le caratteristiche del testo la presenza di numerosi casi clinici.

Il testo tratta i fondamenti della genetica a partire dagli aspetti classici fino ai più moderni approcci molecolari.

La quarta edizione di Genetica umana e medica si rivolge principalmente agli studenti del corso di laurea in Medicina e Chirurgia, agli studenti dei corsi di laurea in Professioni sanitarie e di Scienze biologiche oltre che agli specializzandi in genetica medica. Questa nuova edizione nasce per dar voce alle recenti scoperte e avanzamenti della materia che è una delle discipline in cui negli ultimi anni si sono osservati più sviluppi, sia a livello di metodiche di investigazione sia di pratica clinica. Tutti i capitoli sono stati dunque aggiornati, in particolar modo: - Meccanismi atipici di ereditarietà con la trattazione di un maggior numero di patologie mitocondriali; - Analisi molecolari degli acidi nucleici con l’aggiunta di nuovi pannelli diagnostici; - Bioinformatica applicata alla consulenza genetica in cui sono affrontate in maggior misura le varianti identificabili attraverso nuove tecniche di sequenziamento genomico; - Applicazioni dell’ingegneria genetica in medicina con la trattazione di nuovi modelli di studio e di innovative tecniche di ingegneria genetica - Diagnosi prenatale di malattia genetica con la discussione della nuova modalità di analisi del DNA fetale isolato da sangue materno mediante next generation sequencing. I capitoli “Malattie aritmogene ereditarie”, “Malattie ereditarie sistemiche del tessuto connettivo” e “Patologie correlate al gene CFTR” sono stati completamente rivisti ed è stato infine aggiunto un nuovo capitolo su una tematica attualissima: Autismo e psicosi maggiori. Come nelle precedenti edizioni il volume è suddiviso in due parti: una prima parte introduttiva, che presenta i concetti di base (Le basi della genetica umana), e una seconda più orientata clinicamente (La genetica nella pratica clinica). I lettori potranno accedere a oltre 270 test di autovalutazione a risposta multipla, con risposte argomentate disponibili su studenti33.it.

Lo Human Genome Project e i successivi sviluppi tecnologici, in particolare le tecnologie dei microarray su scala genomica e i

L'obiettivo principale dell'autore, come per la precedente edizione di Genetica, è motivare il lettore lungo il processo di st