Medicinsk genetik

BIOKEMI OG GENETIK er en lærebog, der er rettet mod sygeplejerskeuddannelsen. Bogens indhold og niveau gør den anvendelig på andre mellemlange videregående uddannelser. De emner, der behandles i bogen, er valgt ud fra forfatterens erfaring fra mange års undervisning i sygeplejerskeuddannelsen.Bogen er læsevenlig og forsynet med mange figurer, der gør det muligt at indlære faget ved en større eller mindre grad af selvstudium. Indledningsvist findes afsnit, der er en kort indføring i elementære kemiske begreber, så studerende med ringe forkundskaber i kemi kan få de færdigheder, der er nødvendige for at forstå biokemi og genetik. Bogen kan derfor læses uden særlige forudsætninger i biokemi og genetik. De enkelte kapitler er opbygget med en basal del, hvor der gives en generel indføring i og overblik over emnerne og en udvidet del, der kan læses af de specielt interesserede læsere, som har lyst til at gå lidt dybere i emnet.Biokemien er integreret med fysiologi og giver en uddybning og bredere indsigt i fysiologiske begreber. Desuden omtales nogle blodprøver og sygelige tilstande, så bogen på nogle felter understøtter sygdomslære. Genetikken giver et overblik over genetiske begreber og et indblik i forskellige sygelige tilstande, der er genetisk betingede.Bogen er femte udgave af bogen ”Biokemi”. Der er foretaget mindre justeringer i dele af bogens biokemiafsnit. Kapitlet om muskler er helt omskrevet og udvidet som et resultat af den større betydning, musklerne menes at have for sundhed og sygdom. Genetik er et nyt emne i bogen. Niveau om omfang af genetikken er tilpasset den begrænsede vægt faget har i sygeplejerskeuddannelsen.

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.

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.

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 book covers the dynamic process of genetic diversity in living organisms. It comprises eight chapters that address various topics, including genetic diversity in crop production, the relationship between viruses and their hosts, patterns of genetic variability in silver carp populations in Pakistan, molecular markers used for wildlife conservation, and more.

Oligonucleotide-based diagnostics and therapeutics are attracting attention from the scientific community. In recent years, the range of applications for oligonucleotides has broadened in innovative and creative directions, such as disease diagnostics, cancer prognosis and more. It played an important role during the COVID pandemic in rapid PCR testing as well as modified mRNA-based life-saving vaccines. Various modifications of natural nucleotide bases have been evaluated for several theranostic applications. The development of nucleotide and oligonucleotide therapeutics has been growing in importance over the past few decades. This book examines new developments in oligonucleotide-based research and provides a comprehensive overview of the state of the art in this exciting discipline.

Neuropsychiatric Disorders and Epigenetics, Second Edition is a comprehensive reference on the epigenetic basis of common neuropsychiatric disorders. The volume is organized into chapters covering individual neuropsychiatric disorders, from addiction to anxiety and autism spectrum disorders, and is contributed by leading experts in their respective fields. The epigenetic aspects of each disorder are discussed in the context of the full range of associated epigenetic mechanisms, including DNA modification, histone post-translational modification, chromatin organization, and non-coding RNA. A particular emphasis is placed on potential epigenetic interventions when the effects of environmental stimuli on epigenetic states is particularly relevant to disease. This new edition has been fully updated to reflect recent research advances enabled by genomic technologies, as well as therapeutic interventions for previously unmanageable disorders. Several new chapters have been added on disorders or approaches not considered in the earlier edition, including epigenetics and anxiety disorders, epigenetics and neuroimaging in neuropsychiatric disorders, genome-wide approaches to epigenetic research, and the epigenetics of spinal muscular atrophy.

This volume details features of DNA methylation data, data processing pipelines, quality control measures, data normalization, and to discussions of statistical methods for data analysis, control of confounding and batch effects, and identification of differentially methylated regions. Chapters focus on microarray-based methylation measures and sequence-based measures. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary methodologies and software packages, step-by-step, readily reproducible analysis pipelines, and tips on troubleshooting and avoiding known pitfalls. Authoritative and cutting-edge, Epigenome- Wide Association Studies: Methods and Protocols: aims to be a useful practical guide to researches to help further their study in this field.

This SpringerBrief explores unconventional functions of eight different transcription factors and concludes with a discussion of their biological significance and impact, including effects on processes within the cell nucleaus during development and in adult organisms. Chapter One details unconventional functions of the transcription factors GAGA, HP1, Rb, STAT, ATF-2 and NF-kB. Surprisingly, all of these transcription factors can be found in association with heterochromatin as well as euchromatin, and in some cases unconventional functions have been demonstrated for these heterochromatin-associated factors. Chapter Two focuses on the unconventional functions of STAT and HP1 and discusses their roles in the promotion of longevity, and in protection from cancer and DNA damage. Chapter Three explores the biological significance of the findings presented in the first two chapters and considers how global changes in the epigenome brought about by factors such as STAT and HP1 might affect processes within the cell nucleus during development and in adult organisms. This succinct yet thorough SpringerBrief is essential for researchers studying epigenetics, and to instructors of the subject. It should also appeal to people interested in the control of gene transcription and other processes in the cell nucleus, and to those interested in development.

Mutations in the BRCA1/2 genes are the most common cause of hereditary breast and ovarian cancer (HBOC), and HBOC is an autosomal dominant cancer predisposition syndrome. Individuals with HBOC have a high risk for breast and ovarian cancers and a moderate risk for other cancers, such as prostate, pancreatic, melanoma, and fallopian tube cancers. The goal of screening individuals at high risk of familial cancer is either prevention (such as a change in lifestyle or diet) or early detection of cancer. The identification of BRCA mutation carriers is important, since increased surveillance, drug therapy, and prophylactic surgery can reduce cancer-related morbidity and mortality. In recent years, there has been substantial development in BRCA-associated hereditary breast and/or breast-ovarian cancer research and its clinical applications. In this context, this book consolidates the recent advances in BRCA-related cancer biology and therapeutics, covering a wide spectrum of interrelated topics. Chapters cover a wide range of topics, such as BRCA discovery, BRCA structure and function, BRCA-associated cancers, BRCA genetic testing and counselling, and more. This book is a valuable resource not only for medical and allied health students but also for researchers, clinical and nurse geneticists, genetic counselors, and physician assistants.

The discovery of noncoding RNAs (ncRNAs) is changed our understanding of genome, transcriptome, and interactions with proteome in a cell. Since the discovery of the first microRNA (miRNA) called lin-4 on Caenorhabditis elegans in 1993, our understanding of gene expression has deepened. Further miRNA discoveries have led to the investigation of new ncRNA families and their function, biogenesis, and interactions with other types of molecules. Recent developments in bioinformatics, public databases, sequencing technologies, and biochemical techniques have increased our understanding of the biogenesis, function, and interactions of ncRNAs. This book provides an overview of current ncRNA research dealing with human diseases and cancer and plant miRNAs.

Gene expression is dependent on multiple steps, including transcription, RNA processing, and translation. Importantly, recent studies revealed that gene expression is regulated by chromatin structures and non-coding RNA profiles. Elucidating the molecular mechanisms may contribute to the development of novel therapeutics for aging-related diseases, including cancer and neurodegenerative diseases. This book provides a comprehensive overview of gene expression and its role in human disease. It consists of nine chapters organized into two sections on molecular mechanisms in controlling gene expression and the relationships between transcriptional control and human disease.

This book illustrates the role of randomness and noise in living organisms. Traditionally, the randomness and noise have been used in understanding signal processing in communications. This book is divided into two sections, the first of which introduces readers to the various types and sources of noise and the constructive role of noise in non-linear dynamics. It also analyses the importance of randomness and noise in a variety of science and engineering applications. In turn, the second section discusses in detail the functional role of noise in biological processes for example, in case of brain function at the level of ion channel, synaptic level and even at cognitive level. These are described in various chapters. One of the challenging issue finding the neuronal correlates of various meditative states is to understand how brain controls various types of noise so as to reach a state of synchronized oscillatory state of the brain corresponding to the state of Samadhi. This is described in details in one chapter called Noise, Coherence and meditation. The concept of noise and the role of randomness in living organism raise lot of controversy for last few decades. This is discussed in a separate chapter. Finally, the epistemic and ontic nature of randomness as discussed in physical science are investigated in the context of living organism.

This book discusses principles, methodology, and applications of microbiological laboratory techniques . It lays special emphasis on the use of various automated machines that are essential for medical microbiology and diagnostic labs. The book contains eleven major chapters. The first chapter describes the good lab practices which should be followed by the students in all biological, chemistry or microbiology laboratories. The next chapter describes manual and automated characterization of antibiotic resistant microbes, followed by a chapter on genomics based tools and techniques that are integral to research. Further chapters deal with other important techniques like immunology based techniques, spectrophotometry and its various types, MALDI-TOFF and microarrays, each with illustrations and detailed description of the protocols and applications. The book also gives certain important guidelines to the students about the planning the experiment and interpreting results.The book is highly informative and provides latest techniques. It is a handy compendium for graduate and post graduate students, as well as more advanced researchers.

This book's aim is to study the mathematical and computational models to analyze the progress, prognosis, prevention, and panacea of breast cancer. The book discusses application of Markov chains and transient mappings, Charlie-Simpson numerical algorithm, models represented by nonlinear reaction-diffusion-type partial differential equations, and related techniques. The book also attempts to design mathematical model of targeted strategic treatments by using Skilled Killer Drugs (SKD1 and SKD2) to suggest the improvisation of future cancer treatments. Both graduate students and researchers of computational biology and oncologists will benefit by studying this book. Researchers of cancer studies and biological sciences will also find this work helpful.

This book presents the latest knowledge and the most recent research results on glycobiology of innate immunology. Innate immunity is the crucial part of the immunological defense system that exerts their distinct functions through binding to certain functional glycoproteins. They play a role in various human diseases and also function against microbial invaders and self-associated molecular patterns. Co-regulated expression of glycan-binding is associated with many biological components such as cellular oncotransformation, phenotype change, neuronal or embryonic development, regulation of cell division, cell-cell interaction, cell attachment, adhesion, and motility, and intracellular signaling via protein-carbohydrate or carbohydrate-carbohydrate interactions.This book opens by providing the key background on glycans in innate immunity and its mechanisms behind the Dendritic cell interactions during infection and inflammation are examined in depth, and the concluding chapter is devoted to signaling tumor immunotherapy. Up-to-date information is then presented on all aspects of glycan structure-recognizing signaling. The book should assist in the further development of new strategies against emerging infectious agents and intractable diseases.

This book provides a detailed overview of the latest developments in the rapidly evolving specialty of Neuro-Oncology arranged in approximately 500 questions arranged in multiple-choice and matching formats. It features insight into the latest World Health Organization classification of central nervous system tumors and molecular genetics with information on how to apply a range of intraoperative adjuncts. Guidance on the latest therapeutic techniques such as stem-cell and immunotherapy in clinical practice is also discussed. To assist the reader in developing a deep understanding of the topics, the questions in all chapters are accompanied by relevant explanations to reinforce the key points covered.Neuro-Oncology Explained Through Multiple Choice Questions is a practical and up-to-date resource on how to diagnose, treat and manage a variety of disorders related to neuro-oncology. Its clear, easy-to-follow format and recognition of critical concepts make it an important resource for neurosurgical and oncology trainees preparing for certification examinations and the more experienced practitioners seeking an overview of the latest developments within the field.Additional questions via app: Download the Springer Nature Flashcards app for free and use exclusive additional material to test your knowledge.

This book intends to investigate the broad spectrum of genetic changes in immunological processes involved in cutaneous diseases. One of the main goals of immunogenetic studies is finding susceptibility genes for complex diseases. This can provide an insight into the pathogenesis of the condition in a way that is not easily achievable through other kinds of studies. Thus they are a rational initial step for generating hypotheses about disease pathogenesis. This may especially benefit dermatology, a field notorious for having too many diseases with unknown etiologies.Immunogenetic investigations have made targeted treatment strategies possible for diseases such as psoriasis and pemphigus. Even though these strategies have revolutionized the management of chronic dermatological conditions such as psoriasis, still there are a lot of unanswered questions. For instance, psoriasis patients respond very differently to each of the commercially available biological agents. This diversity could be partially explained by the differences in the sets of genes responsible for disease induction in each individual. Thus whole genome sequencing strategies, if feasible at individual levels, might help in tailoring these targeted treatments based on specific genetic backgrounds.Our intention in preparing this book was to explore the broad spectrum of the genetic aspects of immunological processes involved in cutaneous diseases. We have tried to cover most areas of dermatology where enough studies were available to gather a chapter. Still, there is a substantial lack of knowledge on the immunogenetics of many dermatological conditions. We hope that this book would encourage the investigators to fill these gaps of knowledge.

This book brings together what is currently known in terms of basic research in the field of long noncoding RNAs (lncRNAs) and builds on this to delve more deeply in the specific roles that lncRNAs are playing during inflammation. The book provides readers with basic knowledge on lncRNAs: from understanding the complexity of the transcriptome, conservation, structure and the tools used to investigate these aspects, to how we use this information to study lncRNAs in a specific biological context. The volume covers the emerging roles of lncRNAs in the initial stages of inflammation as well as their roles in specific inflammatory diseases including arthritis, lupus, diabetes and cardiovascular disease. The book also shows the emerging interest in using lncRNAs as a therapeutic target and how this could impact our ability to diagnose and treat inflammatory diseases in the future.

This book explores the interrelationship of genetics, the environment, or both, in the causation of three neurodevelopmental disorders: autism/autism spectrum disorder (ASD), fetal alcohol spectrum disorder (FASD), and cerebral palsy (CP). It links common clinical problems in developmental pediatrics and pediatric neurology to current concepts and translational research advances in developmental neurosciences, medical genetics, and related disciplines. The first section of the book provides a comprehensive and up-to-date overview of development of the brain, including topics such as neuronal stem cells, epigenetics, and the influence of the prenatal environment. The next three sections analyze the epidemiology, diagnosis, interventions, and controversies and research directions associated with each of the three neurodevelopmental disorders. It also examines co-morbidities common to all three disorders, such as disturbed sleep, seizures, behavioral disorders, and pain. It concludes by highlighting the impact of ASD, FASD, and CP on family dynamics and provides tools and resources based on foundational concepts such as neuroethics, bioinformatics, community engagement, and advocacy. Learning objectives, key points, clinical vignettes, and multiple choice questions are incorporated throughout the book. With its comprehensive treatment of disease mechanisms, genetics, and pathophysiology associated with these disorders and its discussion of potential therapies and novel treatments, Neurodevelopmental Pediatrics: Genetic and Environmental Influences is an essential resource for developmental pediatricians, child neurologists, fellows, residents and graduate students.

This updated and enlarged second edition is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases.The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for clinicians and laboratory personnel alike - reference laboratory data is scattered, and clinical descriptions can be obscure. The new Physician's Guide with the additional more than 600 diseases now featured, documents 1200 conditions grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). It includes relevant clinical findings and highlights the pathological values for diagnostic metabolites. Guidance on appropriate biochemical genetic testing is also provided and established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring.The authors are acknowledged experts, and the book is a valuable desk reference for all who deal with inherited metabolic diseases.Chapter 73 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com

This book highlights recent research investigating psychological and neural mechanisms contributing to dysfunctional cognition in people with schizophrenia. The work on cognition in schizophrenia from the past 20 years is highlighted, and emphasis throughout the book is placed on utilizing the Research Domain Criterion framework. Thus, the book also covers animals work relevant to schizophrenia that assesses behaviors utilizing the same framework, enabling mechanistic studies and highlighting potential biomarkers of function. The book also includes important areas of research in the field of cognitive function in schizophrenia that have received less attention, such as cognitive side-effects of current treatments and olfactory-based cognition. Altogether, the book provides a translational perspective of the most-up-to-date research on cognition in schizophrenia to-date, but with identification of novel directions for research initiatives..

This volume contains a comprehensive collection of laboratory protocols used by researchers to analyze varied aspects of non-alcoholic steatohepatitis (NASH). The chapters in this book cover topics such as methods for histological diagnosis of NASH; the purpose of generating an in vivo NASH model; protocols for isolating hepatocytes and Kupffer cells, bone marrow derived macrophages, and adipocytes; techniques to develop human pluripotent stem cells-derived liver organoids; single-cell and RNA-sequencing; and a description of how to extract exosomes and exosomal miRNAs from mesenchymal stem cells. 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. Thorough and practical, Non-Alcoholic Steatohepatitis: Methods and Protocols is a valuable resource for new and experiences investigators studying NASH, and serves as an essential reference on NASH for basic and clinical researchers and students.