Medicinsk genetik

Formålet med dette kompendium er at give læseren en letforståelig og velillustreret gengivelse af de fundamentale koncepter i medicinsk genetik.Kompendiet er målrettet studerende på de sundhedsfaglige uddannelser, særligt medicin- og odontotologistuderende, men kan anvendes af alle med interesse for faget.For at optimere læringsprocessen har vi i dette kompendium kombineret teori og en lang række flowcharts og illustrationer med opgaveløsning.

Being up to Date: Status Quo and Trends of TreatmentFor those involved in the identification and management of patients with inborn errors of metabolism, this book is now recognised as the standard textbook in this interdisciplinary field. It has proved to be indispensable for professionals in specialities ranging from pediatrics, neonatology, pathological biochemistry and genetics to neurology, internal medicine, nursing, dietetics and psychology. This 5th edition has been extensively revised and updated.What's new- Additional chapter focusing on inborn errors affecting adults, particularly the late neurological presentations- Numerous updates on diagnostic procedures and treatment- Newly discovered disorders.As with previous editions, the book opens with a section presenting the clinical approach to inborn metabolic diseases for those cases in which a diagnosis is being sought. This now includes a chapter on the clinical presentation of metabolic diseases in the older age range, using an analogous structure. If a particular diagnosis is already suspected, the reader may refer to the following sections of the book containing general chapters on diagnostic procedures and treatment, and on specific groups of disorders. As with earlier editions, the chapters have been written by authors who are internationally recognised experts on their subjects. They provide information in a clear, relevant and concise manner using a coherent structure.

Previous edition: 2016 published under title: Thompson & Thompson genetics in medicine

"The story of the gene begins in earnest in an obscure Augustinian abbey in Moravia in 1856 where Gregor Mendel, a monk working with pea plants, stumbles on the idea of a "unit of heredity." It intersects with Darwin's theory of evolution, and collides with the horrors of Nazi eugenics in the 1940s. The gene transforms postwar biology. It invades discourses concerning race and identity and provides startling answers to some of the most potent questions coursing through our political and cultural realms. It reorganizes our understanding of sexuality, gender identity, sexual orientation, temperament, choice, and free will, thus raising the most urgent questions affecting our personal realms. Above all, the story of the gene is driven by human ingenuity and obsessive minds -- from Gregor Mendel and Charles Darwin to Francis Crick, James Watson, and Rosalind Franklin to the thousands of scientists working today to understand the code of codes. Author of the Pulitzer Prize-winning bestseller The Emperor of All Maladies, Mukherjee draws on his scientific knowledge and research to describe the magisterial history of a scientific idea. Woven through The Gene is the story of Mukherjee's own family and its recurring pattern of schizophrenia, a haunting reminder that the science of genetics is not confined to the laboratory but is vitally relevant to everyday lives. The moral complexity of genetics reverberates even more urgently today as we learn to "read" and "write" the human genome -- unleashing the potential to change the fates and identities of our children and our children's children."--Book jacket, hardcover edition.

Her er bogen, som giver læseren en omfattende og letlæselig hjælp og vejledning til heling med energilægemidler.Bogen hjælper dig med at identificere din lidelse og vælge den terapi, der bedst fremmer helbredelse. En guide i homøopati, zoneterapi og massage - så du kan udforske de mange terapier, der bruger "energi" til at helbrede almindelige lidelser.Bogen beskriver over 50 forskellige energibehandlinger som akupunktur, yoga, kraniosakralterapi, massage m.m.Først for nylig er denne gamle forståelse af kropsenergi blevet videnskabeligt accepteret som et supplement og en videre udvikling i forhold til moderne medicin. Eller med andre ord… - som en selvhelbredende kraft snarere end på det materielle niveau. I kraft af, at sygdomme er mere almindeligt diagnosticeret som ubalance af legemsenergi, er energimedicin blevet det mest efterspurgte alternativ til den traditionelle vestlige medicin. I den komplette bog af energimedicin giver Dr. Helen Dziemidko os et omfattende kig på energilægemidler. Hun kombinerer det lægefaglige og videnskabelige synspunkt med en udtømmende viden om energihelbredende metoder - fra akupunktur og yoga til Bach Flower terapi og homøopati.Med klare, tilgængelige forklaringer leder hun læseren gennem mere end 50 komplementære terapier som adresserer de 20 mest almindelige kroniske lidelser.Bogen er en international bestseller - nu udgivet på dansk. Den giver en nem guide til at hjælpe læserne med at identificere deres lidelser og de mulige årsager, og derefter vise, hvilke energimediciner der giver den bedste vej mod helbredelse.

En grundbog af høj kvalitet, som dækker alle nødvendige basiskundskaber i biokemi og genetik. Bogen giver dig de bedste rammer for læring, så du kan klare dig godt på studiet og i klinisk praksis.Med denne bog får du: 22 OPDATEREDE KAPITLER om grundlæggende biokemi og genetik PÆDAGOGISKE FORKLARINGER som skaber forståelse og sammenhæng VISUEL FORMIDLING med mange illustrationer, tabeller og modeller FAGSPROG som matcher klinisk praksis 1:1 LÆRINGSBOKSE som fremhæver det vigtigste og giver kliniske eksempler TJEKLISTER med overblik over centrale fagbegreber TEST DIG SELV med afvekslende opgaver og forståelsesspørgsmål KLAR STRUKTUR med præcise overskrifter og fremhævede nøgleord KRYDSHENVISNINGER på tværs af bøgerne og de enkelte fagområder ORDLISTE med alle de vigtigste begreber

This book provides a practically applicable guide to the applications of pharmogenomics across medicine. Background information is provided on the mechanisms associated with membrane transporters, drug-metabolizing enzymes and their importance in pharmagenomics. Detailed guidance is subsequently presented on how to apply these techniques in disciplines including cardiology, gastroenterology, oncology, transplantation surgery, infectious diseases, anesthesia and analgesia, neurology, psychiatry, primary care, and public health. Clear easy-to-follow instructions are given on how to use big data technologies and public health databases in day-to-day clinical practice.Pharmacogenomics in Clinical Practice concisely covers how pharmacogenomic technologies and techniques can be applied in daily medical practice. It is therefore an ideal up-to-date resource for any medical practitioner, trainee or researcher across all medical disciplines whowant to better understand how to use these techniques.

The book aims to be a handy compendium to the very voluminous texts of gastroenterology and hepatology existing in the knowledge market and provides the reader with an easy understanding of the bench knowledge (basic sciences) as they apply to bedside practice (clinical gastroenterology). With introduction and contributions from Prof Eamon Quigley, Former president of World Gastroenterology Organization and American College of Gastroenterology, the book covers the recent advances in the basic sciences that form an important pillar of the knowledge, thereby linking basic sciences such as anatomy, physiology, biochemistry, molecular medicine, etc. to clinical conditions, diseases and new therapeutic approaches in gastroenterology and hepatology. The book is written in a simple easy to read format, with a lot of diagrams and flowcharts, making it a handy guide. It also discusses in-depth about very common clinical conditions encountered in hospital settings such as ulcerative colitis, pseudomembranous colitis, colonic cancer, amebiasis, and various other syndromes and diseases. This book is a useful read for fellows and trainees in Gastroenterology and Hepatology, as well as gastroenterologists, hepatologists and physicians interested in digestive disorders.

This second edition offers a fully revised and updated work on a rapidly growing field of knowledge, and was prepared by two experts whose goal was to explain the molecular basis of mosaic skin disorders in a language that is accessible for practicing physicians and medical students alike. It presents a timely and comprehensive overview of the strikingly manifold patterns and peculiarities of mosaic skin disorders in a straightforward, reader-friendly way that will help physicians to further improve genetic counseling and treatment outcomes.The first two parts of the book are devoted to the mechanisms and patterns of cutaneous mosaicism, and include an explanation of genomic and epigenetic mosaicism and a description of the archetypical segmental patterns including the lines of Blaschko and the flag-like, phylloid and lateralization pattern, the non-segmental pattern of large congenital melanocytic nevi, and the sash-like arrangement as noted in a particular type of cutis tricolor. The concept of lethal mutations surviving as mosaics has now been confirmed by molecular analysis in many sporadically occurring phenotypes. The difference between monoallelic and biallelic traits has deepened our understanding of hereditary mosaics, especially of multiple benign skin tumors. Moreover, recognition of the fundamental difference between the simple segmental and the superimposed types of mosaicism is important for the purpose of genetic counseling. In the third part, the various mosaic skin disorders are examined in depth, including nevi, didymotic disorders, other binary genodermatoses, mosaic manifestations of autosomal skin disorders, and nevoid skin disorders such as phenotypes reflecting functional X-chromosome mosaicism or a superimposed mosaic manifestation of common skin diseases with a polygenic background. Reader-friendly and clearly structured, Mosaicism in Human Skin will appeal to both experienced dermatologists and residents in training, as well as to medical geneticists and pediatricians.  

This book provides an overview on current trends and developments in precision nutrition and personalized health preservation, focussing on a field which is undergoing rapid change. Today, personalized strategies contrast generally accepted guidelines for specified groups and improved health and disease markers are shifting health care toward preventive strategies. At the same time, advances in food additives, nutraceuticals, functional, and medical foods are breaking down the traditional domains of health-related disciplines. This book aims to provide an overview on these processes, discusses arising problems, and provides an outlook on the future of personalized health care and the role of precision nutrition. It covers preliminary thoughts on what has been achieved and focusses on developments in the area of metabolic diseases, aging, and neurology. The book is intended as a primer in the field of precision nutrition and is aimed at researchers, clinicians, and students in health-related disciplines, who would like to get insights into current trends and developments in this area

This detailed book presents a comprehensive collection of state-of-the-art protocols on muscular dystrophy therapeutics, covering therapeutics using antisense oligonucleotides, gene replacement, genome editing, small molecules, stem cells, and antibodies. Written by leaders in the field, the volume explores techniques that are currently in use and are starting an exciting therapeutic revolution in muscular dystrophy. As a part of the highly successful Methods in Molecular Biology series, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step and readily reproducible laboratory protocols, as well as tips on troubleshooting and avoiding known pitfalls. Authoritative and practical, Muscular Dystrophy Therapeutics: Methods and Protocols serves as an ideal resource to inspire readers and provide tips, strategies, and advice to develop new therapeutic technologies for this group of diseases.

Welcome to the pages of this book, a heartfelt exploration of Attention Deficit Hyperactivity Disorder (ADHD) and the unique journey it encompasses. Whether you're an individual with ADHD, a parent, a loved one, or simply seeking understanding, this book aims to shed light on the multifaceted nature of ADHD and its profound impact on lives.ADHD is more than just a diagnosis; it's an intricate tapestry of traits, strengths, and challenges that shape the experiences of those who possess it. In these chapters, we will embark on a voyage through the vast dimensions of ADHD, navigating the complexities and celebrating the remarkable qualities it bestows upon individuals.We recognize that ADHD affects people of all ages, and as such, this book seeks to provide insights and perspectives across the lifespan. From childhood to adolescence, from adulthood to the golden years, ADHD can present itself in various forms, influencing education, relationships, work, and self-perception.Throughout this journey, we will explore the common symptoms of ADHD, such as inattentiveness, hyperactivity, and impulsivity. But beyond these surface-level descriptions, we will delve deeper into the intricate workings of the ADHD mind. We will uncover the incredible creativity, out-of-the-box thinking, and unique problem-solving abilities that often accompany this neurodivergent condition.Understanding ADHD is about embracing the diverse experiences of individuals who possess it. It's about acknowledging that ADHD is not a flaw or a limitation but rather a vibrant tapestry of neurological diversity. It's about shifting our focus from deficits to strengths and empowering those with ADHD to navigate a world that may not always understand or accommodate their needs.In these chapters, you will find personal stories of resilience, triumph, and self-discovery shared by individuals with ADHD. You will encounter practical strategies and tools that can enhance daily life and support personal growth. We will also discuss the importance of building a supportive network of understanding friends, family, educators, and healthcare professionals who can provide the necessary guidance and empathy.While this book cannot capture the entirety of the ADHD experience, it aspires to foster a sense of belonging, community, and validation. It invites you to join the conversation surrounding ADHD, dispelling myths and misconceptions, and opening the door to empathy and acceptance.So, whether you're embarking on this journey as a fellow traveler with ADHD, a caregiver, or a curious mind seeking understanding, I invite you to turn the page and embark on an enlightening and transformative exploration of ADHD-the remarkable minds, the extraordinary stories, and the power of embracing neurodiversity.

This book helps transform the awareness of the anticipatory perspective into actionable methods for practitioners of medicine. It provides guidance for those who design new means and methods inspired by epigenetics, in particular to those who advance sustainable alternatives.

This book focuses on the fundamentals and applications of messenger RNA (mRNA)-based therapeutics and discusses the strengths and key challenges of this emerging class of drugs. In the past 30 years, extensive research and technological development in many areas have contributed to the emergence of in vitro transcribed mRNA as a therapeutic that has now reached clinical testing. Formulations that protect the mRNA from nucleases and accelerate its cellular uptake, combined with improvements to the mRNA molecules themselves, have been critical advancements for mRNAs to become viable therapeutics. Though once regarded as a serious impediment, the transient nature of mRNA technology is now considered a major advantage in making mRNA therapies safe and, ultimately, a potential game changer in the field of medicine. This new book in the RNA Technologies series provides a state-of-the-art overview on the emerging field of mRNA therapeutics covering essential strategies for formulation, delivery, and application. It also reviews the promising role in cancer immunotherapy, respiratory diseases, and chronic HBV infection and discusses RNA vaccines in light of the current COVID-19 pandemic. mRNA-based approaches have great potential to revolutionize molecular biology, cell biology, biomedical research, and medicine. Thus, this handbook is an essential resource for researchers in academia and industry contributing to the development of this new area of therapeutics.

Race is a social reality, not a biological one. Yet African Americans are poorly served by even advanced genetic medicine because it is built on European DNA. Constance Hilliard explores the benefits and drawbacks of racial heuristics in medicine and argues for nonessentializing methods of harnessing genomic science on behalf of people of color.

This second edition volume expands on the previous edition with updated techniques and discussions on topics such as gene suppression, editing, and reprogramming; cardiac gene therapy vectors and promoters; cardiac gene delivery methods; pulmonary hypertension; and patient screening and measuring the efficacy of cardiac gene therapy. 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. Cutting-edge and comprehensive, Cardiac Gene Therapy: Methods and Protocols, Second Edition is a valuable tool for researchers in cardiology who are conducting gene therapy research. This book will lead to further advancements and successful clinical translations in the field. Chapter "e;Direct Reprogramming of Adult Human Cardiac Fibroblasts into Induced Cardiomyocytes Using miRcombo"e; is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.