Medfødte sygdomme og misdannelser

Jonna Jepsen har i 30 år samlet erfaringer og faglig viden om for tidligt fødte, deres trivsel og udvikling. Hun holder foredrag, rådgiver, coacher og underviser i emnet. Nu har hun samlet al sin viden om for tidligt fødte og deres senfølger i denne bog.At være født for tidligt er et særligt vilkår. For langt de fleste har den præmature fødsel en afgørende betydning for deres sindstilstand, trivsel og udvikling på både kort og langt sigt.Tidligere var den gængse opfattelse – både i lægeverdenen og i det øvrige samfund – at et meget for tidligt født barn enten måtte have et fysisk eller mentalt handicap eller være fuldstændigt normalt fungerende.Imellem de to yderpunkter findes der mange for tidligt fødte, der har en lang række ’usynligesenfølger’. De kan have større eller mindre vanskeligheder med alt fra spisning til socialt samspil, og disse hænger ofte sammen og forstærker hinanden.I Præmaturbogen afdækker Jonna Jepsen årsagerne til de hyppigt forekommende udfordringerrelateret til for tidlig fødsel og giver en forståelse af sammenhængene ud fra et helhedsperspektiv. Hun tilbyder dermed en udtømmende gennemgang af, hvor man kan sætte ind over for det lillebarns, skolebarnets, den unges og den voksnes ubalancer og udfordringer, og hvordan man kan hjælpe alle aldersgrupper til et godt liv i positiv udvikling.Præmaturbogen henvender sig til forældre til for tidligt fødte børn i alle aldre, til fagpersoner og til de præmature unge og voksne, som ønsker konkrete værktøjer til og forståelse for de vanskeligheder, en for tidlig fødsel kan føre med sig.Ud over at være forfatter til en række bøger om især for tidligt fødte, er Jonna Jepsen foredragsholder, underviser, coach og specialkonsulent. Hun er desuden stifter af og tidligere formand for Dansk Præmatur Forening.

Histologi kompendium er et supplement til Genesers histologi. De tre forfattere bag kompendiet er alle medicinstuderende, der selv har undervist i histologi. Kompendiet følger samme kapitelstruktur som Genesers histologi, og undervejs henvises der til figurer i bogen. Desuden indeholder kompendiet en spotvejledning til almen– og specielhistologi. Anatomispot indgår oftest som en central del i histologiundervisningen, og her kan kompendiet hjælpe den studerende med at genkende de enkelte histologiske præparater. Tanken med kompendiet er, at det både kan bruges parallelt med undervisningen, når man skal læse op til eksamen og senere hen til genopfriskning i forbindelse med de kliniske fag.    I 2. udgave er der sket følgende ændringer:• Der er tilføjet nye præparater og ekstra illustrationer til spotvejledningen.• Der er kommet et stikordsregister bagerst i bogen.• Spotvejledningen er blevet markeret med fingermærker, så man nemt og hurtigt kan finde den i forbindelse med anatomispot.• Bogen blevet rettet igennem for fejl og mangler.• Tekstopsætningen er flere steder blevet gjort mere hensigtsmæssig.

“Histologi – tekst og atlas” er en kortfattet lærebog i histologi, hvor de vigtigste vævstyper og deres funktioner er beskrevet. Bogen beskriver både den almene og den specielle histologi med fokus på lys- og elektronmikroskopiske billeder samt mere skematiske oversigtsillustrationer.De mange fotos samt illustrationer gør bogen yderst velegnet til genkendelse og forståelse af histologiske præparater. Bogen kan således med stor fordel benyttes til eksamensforberedelsen, hvor identifikationen af histologiske snit er essentielt. Men den kan også bruges som en kortfattet lærebog, idet den er tilstræbt pensumdækkende.Bogen er delt i to overordnede dele: DEL I: Almen histologi og DEL II: Speciel histologi. Den almene del præsenterer let forståeligt de fire grundlæggende vævstyper: bindevæv, muskelvæv, epitelvæv og nervevæv. I den specielle del gennemgås på letforståelig og pædagogisk vis, hvordan disse almene væv danner kroppens forskellige organvæv. Ud over disse to dele indeholder bogen indledende kapitler om histologiske metoder samt en enkelt beskrivelse af cellens opbygning og funktion.Ydermere er der sidst i bogen placeret to væsentlige appendices. Appendix 1 beskriver de forskellige histologiske farvemetoder, som vises i bogen. Appendix 2 er lavet som et miniatlas, som præsenterer lidt over 150 supplerende histologiske fotos til bogens kapitler.Bogens målgruppe er primært medicinstuderende ved de medicinske fakulteter i Danmark, både i København, Aarhus, Odense og Aalborg. Andre uddannelser som biomedicin og dyrelægestudiet kan også have god brug af bogen.

En smuk og barsk beretning om sorg og tab samt lys og kærlighed. Da Alberte er 7 år gammel, får hun diagnosen Metakromatisk Leukodystrofi (MLD), en nervesygdom, der langsomt nedbryder hendes motoriske og kognitive færdigheder. Albertes mor beskriver ærligt og personligt, hvordan Albertes diagnose og sygdomsforløb rammer familien med et hårdt slag og kaster mor, far og storesøster ud i en følelsesmæssig nedtur, hvor de magtesløse lever med visheden om, at Alberte skal dø. Alligevel får dødens tilstedeværelse dem ikke til at opgive at finde en retning og mening med livet og lader lyset og kærligheden dominere i Albertes korte liv.

From an acclaimed Harvard professor and one of TIME's most influential people comes a paradigm-shifting book that shows how almost everything people think they know about aging is wrong. He offers a front-row seat to the amazing global effort to slow, stop, and reverse aging, and calls readers to consider a future where aging can be treated.

Genesers histologi præsenterer læseren for en letforståelig og meget grundig fremstilling af både cellebiologi og den almene og specielle histologi. Stoffet gennemgår sammenhængen mellem struktur og funktion og relaterer dette til sygdomsprocesser og den kliniske hverdag. Bogen er særdeles pædagogisk opbygget, og hvert kapitel indeholder bokse med kliniske eksempler eller uddybende viden og afsluttes med testspørgsmål til det pågældende kapitel. Det omfattende illustrationsmateriale indeholder både lys- og elektronmikroskopiske fotos og stregtegninger.I 2. udgave er opbygningen bevaret, mens stoffet er gennemarbejdet og opdateret. Bogen er fortsat pensumdækkende ved medicinstudiet på alle fire universiteter i Danmark.

Marias liv falder fra hinanden, da hendes fireårige søn, William, bliver diagnosticeret med en sjælden genetisk sygdom. Efter en fejlslagen knoglemarvstransplantation mister William alle sine sansers brug og kommer til at ligge lænket til en respirator. Familien går i opløsning. Og Maria, der engang var livsglad pædagog og professionel håndboldspiller, ser sit vindende væsen visne ved siden af en hospitalsseng.WILLIAMS BEFRIELSE er en uafrystelig historie om en mors kamp. Først for at hendes dødssyge søn skal overleve. Men – som håbet svinder med årene, og omkostninger for kampen tegner sig – for at William skal blive befriet i døden.Marias gribende beretning er tragisk og ubærlig. Men den er også et modigt og livsbekræftende vidnesbyrd om en mor, der overkommer den største sorg.

"The Sickle Cell Anemia Mastery Bible: Your Blueprint for Complete Sickle Cell Anemia Management" is an indispensable guide for those navigating the complex landscape of sickle cell anemia. From unraveling the biology of the condition and understanding early symptoms to exploring diagnostic pathways and the psychological impact, this comprehensive book offers a holistic perspective. Personal stories of resilience, alongside diagnostic and medical assessments, provide a nuanced understanding. The book delves into both traditional and alternative approaches, including nutrition, herbal remedies, physical therapy, and stress reduction techniques.Readers will find insights into medical management, pain relief, blood transfusion protocols, and advancements in gene therapy. Navigating the emotional journey, building support systems, and celebrating milestones are integral components. The book covers lifestyle modifications, self-care, and daily routines, addressing travel considerations, emergency health plans, and environmental factors. Coping mechanisms, self-monitoring techniques, and dealing with discrimination are discussed, promoting emotional resilience. The book explores relationships, intimacy, and the psychological aspects of chronic illness, offering coping strategies and therapeutic options.With a focus on customizable management plans, the book guides readers through goal-setting, flexibility in plans, and coordinating care among specialists. It embraces technology and emergency protocols while providing a comprehensive plan for children and adolescents. The dietary aspect is covered extensively, emphasizing essential nutrients, anti-inflammatory foods, and success stories. Mental health receives dedicated attention, recognizing issues, therapy options, and support groups.Patient advocacy takes center stage, with discussions on patient rights, communication with healthcare providers, and navigating the healthcare system. The book extends its insights to childhood and adolescence, addressing pediatric care, educational support, and transitioning to adult care. Women's and men's health sections delve into specific considerations, promoting awareness and resilience.As it concludes, the book looks toward future horizons, exploring advances in research, genetic therapies, stem cell transplantation, clinical trials, global initiatives, and the role of technology in management. Patient advocacy and empowerment shine through, offering a vision for the future based on expert insights.

"The Duchenne Muscular Dystrophy Mastery Bible: Your Blueprint for Complete Duchenne Muscular Dystrophy Management" is a comprehensive guide offering support, insights, and a roadmap for individuals and families navigating the challenges of Duchenne Muscular Dystrophy (DMD). Delve into the genetic puzzle of DMD, understanding dystrophin, and recognizing early signs. Learn about medical management, including corticosteroid therapies, cardiac care, and respiratory support, as well as physical and occupational therapy approaches. Explore holistic perspectives with integrative medicine, acupuncture, herbal supplements, and mind-body practices. The book provides practical guidance for daily life, covering adaptive equipment, home modifications, education, and social inclusion. Address psychological and emotional wellness with coping strategies, mental health support, and resilience-building techniques. Empower yourself through creating a personalized DMD management plan, collaborating with healthcare providers, and incorporating holistic approaches. Advocacy and empowerment sections guide you in understanding your rights, navigating healthcare systems, and participating in research and trials. Explore the science of hope with breakthroughs in gene therapy, stem cell research, advances in muscle biology, and innovative drug discoveries. Understand the role of patient advocacy in research and the impact of technology on DMD. This book is a beacon of knowledge, support, and hope for anyone affected by DMD.

"What an incredibly insightful book that speaks from the hearts of a special population of individuals who have been diagnosed as adults with Fetal Alcohol Spectrum Disorders (FASD)... Patti Kasper has put together an outstanding book. She has been able to bring her own unique point of view to an extraordinarily complex subject in a way from which we can all benefit and learn." Kenneth Lyons Jones, MD, Distinguished Emeritus Professor, Department of Pediatrics University of California, San Diego La Jolla, CA As a foster and adoption social worker, Patricia Kasper wanted to understand why so many children in the foster care system fall between the cracks. A lifelong learner, she ultimately dove into the study of Fetal Alcohol Spectrum Disorders, or FASD, which affects 5% of the general population, but up to 70% of youth in foster care. Indeed, Patricia learned that 80% of youth with an FASD are not raised by their parents, and that 86% are either un- or mis-diagnosed. The training Patricia took was revolutionary, as not only did it explain why so many children and youth have been failed, as well as why foster families are so ill-prepared to meet their needs, but it also revealed to Patricia that she herself was impacted by prenatal exposure to alcohol. FASD, a physical disability with behavioral symptoms, is rarely diagnosed, even though it is the #1 preventable cause of developmental, learning and intellectual disabilities world-wide, affecting more people than Autism Spectrum, Cerebral Palsy, Spina Bifida and Downs Syndrome combined. No one outgrows FASD and services for adults living with FASD are even fewer than those available for children and youth. With a diagnostic rate of less than 1%, there are millions upon millions of adults who are unaware they've had a prenatal brain injury. No two people with FASD are impacted the same way, due to a complexity of factors. Sip by Sip shares with its readers 10 stories, the author's own and the other nine through a series of conversations the author has with other people living with FASD. This book is Patricia's attempt to reach other adults who may find answers to life's struggles by looking at their lives through the lens of FASD.

Whether it's you or a family member, receiving a diagnosis of Parkinson's disease can generate emotions of anger, frustration, sadness, and confusion-but you're not in this fight alone. This books giving you the tools to conquer those feelings of being overwhelmed and helping you to be better prepared for life post-diagnosis.In one of the most extensive, up-to-date Parkinson's disease books, you'll find resources for maintaining realistic optimism while living with Parkinson's disease. In This Book, You Will Discover:A comprehensive guide to understanding Parkinson's disease, including its symptoms, causes, and diagnosisEvidence-based strategies for managing Parkinson's diseaseTips for maintaining healthy relationships with family, friends, and caregivers, including strategies for effective communicationPractical tools and resources for managing Parkinson's disease and living their best lives.And lots moreParkinson's disease is a degenerative brain illness associated with aging that result in the breakdown of certain brain tissue. The most frequent side effects include tremors, balance problems, and slower movementsThis book will guide you on how you can cope and treat Parkinson disease.

Epigenetics in Human Disease, Third Edition examines the diseases and conditions on which we have advanced knowledge of epigenetic mechanisms, such as cancer, autoimmune disorders, aging, metabolic disorders, neurobiological disorders and cardiovascular disease. From molecular mechanisms and epigenetic technology to clinical translation of recent research, the nature and applications of the science is presented for those with interests ranging from the fundamental basis of epigenetics to therapeutic interventions for epigenetic-based disorders, with an emphasis throughout on understanding and application of key concepts in new research and clinical practice. Fully revised and up-to-date, this Third Edition discusses topics of current interest in epigenetic disease research, including stem cell epigenetic therapy, bioinformatic analysis of NGS data, epigenetic mechanisms of imprinting disorders, microRNA in cancer, epigenetic approaches to control obesity, epigenetics and airway disease, and epigenetics in cardiovascular disease. Further sections explore online epigenetic tools and datasets; early-life programming of epigenetics in age-related diseases; the epigenetics of addiction and suicide, and epigenetic approaches to regulating and preventing diabetes, cardiac disease, allergic disorders, Alzheimer's disease, respiratory diseases, and many other human maladies. In addition, each chapter now includes chapter summaries, definitions, and vibrant imagery and figures to reinforce understanding, as well as step-by-step methods and disease research case studies.

This is a beginner's quick start guide on managing Sjogren's syndrome through diet. The guide contains a simple background overview of the condition as well as sample recipes and a meal plan.

"Neurology trainees will learn of presentations and diagnostic features from a wide range of neurological disorders including infective, inflammatory, neoplastic and functional neurology. Patient perspectives offer the personal impact of the specific neurological condition to further understanding of the different disorders and enhance patient care"--

This book tells how to stay clear of both psoriasis or eczema and keep it under total control! The book describes the author's 20 year struggle with psoriasis and what was found and used to totally control it for over 30 years. The book describes in detail what was used to totally control the itching, the scaling and eliminate any outward signs of psoriasis. It describes what was found to be the most effective and consistent treatment for both psoriasis and eczema. All the current medications and treatments for both psoriasis and eczema are explained regarding their effects. The book is very relevant for anyone with either psoriasis or eczema who wants to keep their condition under complete control and no longer need to use any lotions, ointments or prescription treatments.

Drawing from the latest developments and approaches in Alzheimer's and dementia care, Forget Me Not has all the answers.

Book 6 in the Dementia series focuses on Huntington's Diseases. In simple language, the guide teaches Huntington's disease Symptoms, Causes, Risk Factors, Diagnosis, Treatment, Stages & Prevention.

At some point in our lives, many of us will face the crisis of an unexpected illness. For parents, the fear, anxiety and confusion resulting from a cancer diagnosis can be particularly devastating. When A Parent Has Cancer is a book for families written from the heart of experience. A mother, physician, and cancer survivor, Dr Wendy Harpham offers clear, direct, and sympathetic advice for parents challenged with the task of raising normal, healthy children while they struggle with a potentially life-threatening disease. Dr Harpham lays the groundwork of her book with specific plans for helping children through the upheaval of a parent's diagnosis and treatment, remission and recovery, and if necessary, confronting the possibility of death. She emphasises the importance of being honest with children about the gravity of the illness, while assuring them that their basic needs will always be met. Included is Becky and the Worry Cup, an illustrated children's book that tells the story of a seven-year-old girl's experiences with her mother's cancer.

In patients with phenylketonuria (PKU), blood phenylalanine concentration during childhood is the major determinant of cognitive outcome. Thanks to newborn screening and early dietary therapy, individuals with PKU no longer experience intellectual disability. Nevertheless, some do not achieve their full potential. The establishment of uniform guidelines and improved management for PKU can lead to optimal outcomes in this metabolic disorder.Since in 1999 it has been shown that some patients with PKU respond to the administration of tetrahydrobiopterin (BH4; sapropterin dihydrochloride) by lowering blood phenylalanine concentrations, that these patients can be treated with sapropterin dihydrochloride. Enzyme substitution therapy with phenylalanine ammonia lyase (PAL) is a promising new option, along with diet and sapropterin, to reduce Phe levels and improve the clinical outcome of subjects with PKU. Gene therapy is another new approach which remains to be evaluated in upcoming studies. It has been also shown that patient's genotype determines the phenotype and helps in predicting BH4 responsiveness.In the 4th edition of this textbook past, present, and future efforts related to PKU and BH4 deficiencies are discussed. The reviews and scientific contributions in this book provide professionals, the patients, and their families to understand PKU within a biochemical, neurological and psychological context.

"Jeg har en storebror, som hedder Christian, og en lillesøster, som hedder Kamilla. Kamilla og jeg er født med Robinows syndrom, som er:Lille af vækst, kan have medfødt hjerte- eller nyrefejl, kan være sent udviklet (dermed menes blandt andet, at man kan have sværere ved at lære at læse, skrive og regne) og bliver senere moden. ..."Melisa Louise Eriksen Jensen skriver i denne bog om sin barndom og om sin sygdom, om misbrug – men også om håb og længsel.