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.

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.

"Angelman Syndrome Demystified: Doctor's Secret Guide" is a compassionate and comprehensive resource offering invaluable insights into the world of Angelman Syndrome (AS). Dr. [Author's Name], an expert in the field, guides readers through the fundamental aspects of AS, from understanding the genetics behind it to recognizing and diagnosing symptoms. This guide delves into the daily challenges faced by individuals living with AS and their families, providing a biopsychosocial approach that encompasses the biological, psychological, and social dimensions of the syndrome. Covering topics such as family dynamics, myths versus reality, and transitioning to adulthood, the book empowers caregivers with practical strategies for supporting their loved ones. From preventive measures and complication management to therapeutic interventions, alternative therapies, and personal development strategies, this guide is a roadmap for enhancing the quality of life for individuals with AS. Navigating healthcare systems, coordinating multidisciplinary care, and understanding healthcare coverage are also thoroughly addressed, ensuring caregivers are well-equipped to advocate for their loved ones. With a focus on nutrition, personal safety, and independence, this guide is an indispensable companion for caregivers, educators, and healthcare professionals, providing a holistic understanding of Angelman Syndrome and practical tools for improving the lives of those affected.

In "Understanding CRISPR: A Simplified Guide," readers are invited on an enlightening journey through the revolutionary world of CRISPR-Cas9 technology. This guide is meticulously designed for those with little to no background in genetics or molecular biology, providing a clear and accessible introduction to one of the most groundbreaking scientific advancements of our time.Beginning with a brief history of genetic research, the book sets the stage for the discovery of CRISPR and its rapid development into a tool for gene editing. The author skillfully demystifies the complex science behind CRISPR, using layman's terms and relatable analogies to explain how this technology allows scientists to edit DNA sequences and modify gene function with unprecedented precision and flexibility.

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 book offers an in-depth and comprehensive review on current understanding of regulatory ncRNAs in complex diseases from a view of bioinformatics. It conveys state-of-the-art bioinformatics tools and methods for ncRNAs from computational detection, functional prediction, to their roles in diseases. Computational methods used to investigate uncharacterised ncRNAs in diseases are mainly summarized in seven aspects: DNA variation of ncRNAs in diseases, prioritization of disease-related ncRNAs, dysregulation epigenetic factors that regulate ncRNA misexpression (DNA methylation and histone-modification), complex crosstalk across ncRNAs, ncRNAs acted as competing regulators to mediate the expression of protein-coding genes, non-coding RNAs mediated risk pathways,and their contributions to drug target predictions. The generally used data resources of ncRNAs are also listed in the end. This book provides important information on the current progress in the fast-moving fields of bioinformatics for regulatory ncRNAs. It provides a timely and useful reference for computational biologists, specifically with RNA interests, and other related areas.Prof. Xia Li is a Professor and the Dean of College of Bioinformatics Science and Technology, Harbin Medical University, China. Dr. Yun Xiao, Dr. Juan Xu, Dr. Shangwei Ning and Dr. Yunpeng Zhang are from College of Bioinformatics Science and Technology, Harbin Medical University, China.

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.

Emery and Rimoin¿s Principles and Practice of Medical Genetics and Genomics: Developmental Disorders, Seventh Edition is distinguished as the ultimate resource for clinicians integrating genetics into medical practice. This updated edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications in medicine more broadly. Users will find comprehensive sections on medical genetics applied to a range of developmental disorders and an emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and therapeutics that make use of current genomic technologies and translational studies. Updated chapters on human developmental genetics as well as the genetics of sexual development, clefting, dental, and craniofacial syndromes, craniosynostosis, rasopathies, sex-chromosome abnormalities, and autosomal deletions, among other disorders are included.

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.

This textbook illustrates the importance and significance of molecular genetic testing in reproductive disorders. The present book covers the genetic testing in various reproductive system anomalies, including disorders of sexual development, male infertility (Y deletions, autosomal mutations, sperm DNA fragmentation), female infertility (PCOS and POF), mitochondrial DNA testing for oocyte quality, recurrent pregnancy loss, pre-term birth, endometrial receptivity, prenatal genetic screening, reproductive carrier screening, preimplantation genetic screening, endometrial cancer, cervical cancer and other related reproductive health disorders. Microbiome testing and its contribution to genetic testing in reproductive medicine are also discussed. Genetic testing in some of these has already come into practice, genetic testing for others is established but not clinically practiced, and genetic testing for others is yet in infancy as there is only limited data available. For the disorderswhere sufficient genetic data to undertake genetic testing is not available, we have tried to put together the evidence for proposing such tests in the near future. Apart from this, the book also covers ethical, moral and technical challenges in genetic testing in reproductive medicine. The book aims to set up a standard with regard to genetic testing in the reproductive medicine field, encourage further data generation, and provide food for thought in the areas of lacunae. The book serves graduate students, researchers, clinicians, professors, and patients in the field of reproductive medicine.¿

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.

Epigenetics is the study of heritable phenotype changes that do not entail changes in the DNA sequence. Epigenetic abnormalities have emerged as the most promising biomarkers for diagnosis and prognosis in the early stage of illnesses, such as cancer, autoimmune diseases and psychological disorders. A medical model in which people are divided into groups with medical decisions, practices, interventions and products being tailored to the individual patient based on their predicted response or risk of disease is referred as personalized medicine. The terms precision medicine and personalized medicine are utilized interchangeably for describing the concept. Diagnostic testing is used often in personalized medicine to determine suitable and optimal therapies based on a patient's genetic content, or other molecular or cellular analysis. Certain aspects of personalized medicine utilize genetic information, such as pharmacogenomics. With the help of genomics, proteomics and imaging techniques, molecular scale data of the patients is obtained easily. These molecular biomarkers are then used in determining the prognosis of diseases such as cancer. The readers would gain knowledge that would broaden their perspective about personalized precision medicine through this book. Also included herein is a detailed explanation of the role of epigenetic biomarkers. This book will help the readers in keeping pace with the rapid changes in this field of study.

Cystic fibrosis (CF) is a genetic disorder, which influences the liver, lungs, pancreas, intestine and kidneys. The long-term effects of this disorder include trouble in respiration, and coughing up mucus because of regular lung infections. There can be other symptoms such as fatty stool, sinus infections, infertility in most males, poor growth and clubbing of the fingers and toes. CF is hereditary in an autosomal recessive manner. It occurs due to the presence of mutations in both the replicas of the gene for cystic fibrosis transmembrane conductance regulator (CFTR) protein. There is currently no treatment for cystic fibrosis. Antibiotics are used in the treatment of lung infections, which can be taken orally, inhaled or given intravenously. Antibiotic azithromycin is used in severe cases for long time duration. Inhaled hypertonic saline and salbutamol can also provide relief. If the lung functioning is constantly deteriorating, lung transplantation can be done. Emerging medicines for the treatment of this disorder include powdered versions of tobramycin and colistin, nebulized aztreonam and mannitol for inhalation. This book unravels the recent studies on cystic fibrosis. It will help the readers in keeping pace with the diagnosis and emerging treatments of this medical condition.