Author: Andrew Bush
Publisher: CRC Press
ISBN: 1000988538
Category : Medical
Languages : en
Pages : 747
Book Description
Cystic Fibrosis has seen dramatic advances in treatment since the last edition, including targeted cystic fibrosis transmembrane conductance regulator (CFTR) protein modulators for most CFTR gene abnormalities. This new fifth edition is an update and expansion of the rapid clinical and scientific advances in improving prognosis, and the impact of COVID-19, all of which has transformed conventional models of care. It covers basic science, such as how detailed understanding of the biology of the CFTR gene and protein has led to novel and beneficial therapies, as well as all aspects of clinical management in high-, middle- and low-income settings and the voices of individuals with CF from across the world. It will be a useful reference for clinicians, including all levels of trainees, across the whole multidisciplinary team, scientists and students. Key Features • Follows an appealing organization of chapters, by developing fundamental knowledge of the reader before moving on to more complex or developing topics. • Presents a comprehensive, authoritative and up-to-date text, integrating fundamental science and clinical aspects of cystic fibrosis providing an attractive read for clinicians, trainee doctors and scientists. • Draws on global expertise and reflects best evidence-based practice from experts conducting cutting-edge clinical and basic science research from around the world.
Hodson and Geddes' Cystic Fibrosis
Author: Andrew Bush
Publisher: CRC Press
ISBN: 1000988538
Category : Medical
Languages : en
Pages : 747
Book Description
Cystic Fibrosis has seen dramatic advances in treatment since the last edition, including targeted cystic fibrosis transmembrane conductance regulator (CFTR) protein modulators for most CFTR gene abnormalities. This new fifth edition is an update and expansion of the rapid clinical and scientific advances in improving prognosis, and the impact of COVID-19, all of which has transformed conventional models of care. It covers basic science, such as how detailed understanding of the biology of the CFTR gene and protein has led to novel and beneficial therapies, as well as all aspects of clinical management in high-, middle- and low-income settings and the voices of individuals with CF from across the world. It will be a useful reference for clinicians, including all levels of trainees, across the whole multidisciplinary team, scientists and students. Key Features • Follows an appealing organization of chapters, by developing fundamental knowledge of the reader before moving on to more complex or developing topics. • Presents a comprehensive, authoritative and up-to-date text, integrating fundamental science and clinical aspects of cystic fibrosis providing an attractive read for clinicians, trainee doctors and scientists. • Draws on global expertise and reflects best evidence-based practice from experts conducting cutting-edge clinical and basic science research from around the world.
Publisher: CRC Press
ISBN: 1000988538
Category : Medical
Languages : en
Pages : 747
Book Description
Cystic Fibrosis has seen dramatic advances in treatment since the last edition, including targeted cystic fibrosis transmembrane conductance regulator (CFTR) protein modulators for most CFTR gene abnormalities. This new fifth edition is an update and expansion of the rapid clinical and scientific advances in improving prognosis, and the impact of COVID-19, all of which has transformed conventional models of care. It covers basic science, such as how detailed understanding of the biology of the CFTR gene and protein has led to novel and beneficial therapies, as well as all aspects of clinical management in high-, middle- and low-income settings and the voices of individuals with CF from across the world. It will be a useful reference for clinicians, including all levels of trainees, across the whole multidisciplinary team, scientists and students. Key Features • Follows an appealing organization of chapters, by developing fundamental knowledge of the reader before moving on to more complex or developing topics. • Presents a comprehensive, authoritative and up-to-date text, integrating fundamental science and clinical aspects of cystic fibrosis providing an attractive read for clinicians, trainee doctors and scientists. • Draws on global expertise and reflects best evidence-based practice from experts conducting cutting-edge clinical and basic science research from around the world.
Hodson and Geddes' Cystic Fibrosis, Fourth Edition
Author: Andrew Bush
Publisher: CRC Press
ISBN: 0340764252
Category : Medical
Languages : en
Pages : 469
Book Description
Hodson and Geddes' Cystic Fibrosis provides everything the respiratory clinician, pulmonologist or health professional treating patients needs in a single manageable volume. This international and authoritative work brings together current knowledge and has become established in previous editions as a leading reference in the field. This fourth edition includes a wealth of new information, figures, useful videos, and a companion eBook. The basic science that underlies the disease and its progression is outlined in detail and put into a clinical context. Diagnostic and clinical aspects are covered in depth, as well as promising advances such as gene therapies and other novel molecular based treatments. Patient monitoring and the importance of multidisciplinary care are also emphasized. This edition: Features accessible sections reflecting the multidisciplinary nature of the cystic fibrosis care team Contains a chapter written by patients and families about their experiences with the disease Includes expanded coverage of clinical areas, including chapters covering sleep, lung mechanics and the work of breathing, upper airway disease, insulin deficiency and diabetes, bone disease, and sexual and reproductive issues Discusses management both in the hospital and at home Includes a new section on monitoring and discusses the use of databases to improve patient care Covers monitoring in different age groups, exercise testing and the outcomes of clinical trials in these areas Includes chapters devoted to nursing, physiotherapy, psychology, and palliative and spiritual care Throughout, the emphasis is on providing an up-to-date and balanced review of both the clinical and basic science aspects of the subject and reflecting the multidisciplinary nature of the cystic fibrosis care team.
Publisher: CRC Press
ISBN: 0340764252
Category : Medical
Languages : en
Pages : 469
Book Description
Hodson and Geddes' Cystic Fibrosis provides everything the respiratory clinician, pulmonologist or health professional treating patients needs in a single manageable volume. This international and authoritative work brings together current knowledge and has become established in previous editions as a leading reference in the field. This fourth edition includes a wealth of new information, figures, useful videos, and a companion eBook. The basic science that underlies the disease and its progression is outlined in detail and put into a clinical context. Diagnostic and clinical aspects are covered in depth, as well as promising advances such as gene therapies and other novel molecular based treatments. Patient monitoring and the importance of multidisciplinary care are also emphasized. This edition: Features accessible sections reflecting the multidisciplinary nature of the cystic fibrosis care team Contains a chapter written by patients and families about their experiences with the disease Includes expanded coverage of clinical areas, including chapters covering sleep, lung mechanics and the work of breathing, upper airway disease, insulin deficiency and diabetes, bone disease, and sexual and reproductive issues Discusses management both in the hospital and at home Includes a new section on monitoring and discusses the use of databases to improve patient care Covers monitoring in different age groups, exercise testing and the outcomes of clinical trials in these areas Includes chapters devoted to nursing, physiotherapy, psychology, and palliative and spiritual care Throughout, the emphasis is on providing an up-to-date and balanced review of both the clinical and basic science aspects of the subject and reflecting the multidisciplinary nature of the cystic fibrosis care team.
Hodson and Geddes' Cystic Fibrosis
Author: Andrew Bush
Publisher: CRC Press
ISBN: 1444180010
Category : Medical
Languages : en
Pages : 675
Book Description
Hodson and Geddes' Cystic Fibrosis provides everything the respiratory clinician, pulmonologist or health professional treating patients needs in a single manageable volume. This international and authoritative work brings together current knowledge and has become established in previous editions as a leading reference in the field. This fourth edition includes a wealth of new information, figures, useful videos, and a companion eBook. The basic science that underlies the disease and its progression is outlined in detail and put into a clinical context. Diagnostic and clinical aspects are covered in depth, as well as promising advances such as gene therapies and other novel molecular based treatments. Patient monitoring and the importance of multidisciplinary care are also emphasized. This edition: Features accessible sections reflecting the multidisciplinary nature of the cystic fibrosis care team Contains a chapter written by patients and families about their experiences with the disease Includes expanded coverage of clinical areas, including chapters covering sleep, lung mechanics and the work of breathing, upper airway disease, insulin deficiency and diabetes, bone disease, and sexual and reproductive issues Discusses management both in the hospital and at home Includes a new section on monitoring and discusses the use of databases to improve patient care Covers monitoring in different age groups, exercise testing and the outcomes of clinical trials in these areas Includes chapters devoted to nursing, physiotherapy, psychology, and palliative and spiritual care Throughout, the emphasis is on providing an up-to-date and balanced review of both the clinical and basic science aspects of the subject and reflecting the multidisciplinary nature of the cystic fibrosis care team.
Publisher: CRC Press
ISBN: 1444180010
Category : Medical
Languages : en
Pages : 675
Book Description
Hodson and Geddes' Cystic Fibrosis provides everything the respiratory clinician, pulmonologist or health professional treating patients needs in a single manageable volume. This international and authoritative work brings together current knowledge and has become established in previous editions as a leading reference in the field. This fourth edition includes a wealth of new information, figures, useful videos, and a companion eBook. The basic science that underlies the disease and its progression is outlined in detail and put into a clinical context. Diagnostic and clinical aspects are covered in depth, as well as promising advances such as gene therapies and other novel molecular based treatments. Patient monitoring and the importance of multidisciplinary care are also emphasized. This edition: Features accessible sections reflecting the multidisciplinary nature of the cystic fibrosis care team Contains a chapter written by patients and families about their experiences with the disease Includes expanded coverage of clinical areas, including chapters covering sleep, lung mechanics and the work of breathing, upper airway disease, insulin deficiency and diabetes, bone disease, and sexual and reproductive issues Discusses management both in the hospital and at home Includes a new section on monitoring and discusses the use of databases to improve patient care Covers monitoring in different age groups, exercise testing and the outcomes of clinical trials in these areas Includes chapters devoted to nursing, physiotherapy, psychology, and palliative and spiritual care Throughout, the emphasis is on providing an up-to-date and balanced review of both the clinical and basic science aspects of the subject and reflecting the multidisciplinary nature of the cystic fibrosis care team.
Cystic Fibrosis in the 21st Century
Author: Andrew Bush
Publisher: Karger Medical and Scientific Publishers
ISBN: 3805579608
Category : Medical
Languages : en
Pages : 341
Book Description
Cystic fibrosis used to be thought of as a respiratory and digestive disease, with a uniformly and rapidly fatal outcome. The spectrum of the disease has broadened into the mild atypical case, presenting in middle age, with the potential for complications in virtually every system of the body. In the past few years there has been an explosion of knowledge of the basic science of the defect. The editors have therefore invited the leading scientists and clinicians in the field of cystic fibrosis to describe the recent advances in this disease. Although there are many 'Recent Advances' texts, previous books have been selective in their choice of topics. This book is the first to cover the entire field of this complex disease, and encompasses the rapidly moving topics of the basic molecular and cellular biology as well as the recent multi-system, multi-disciplinary advances in the clinical care of patients. The authors have been charged with writing only about new developments and not to rehash old literature. The bulk of the references is therefore less than five years old. This book addresses all professionals who treat cystic fibrosis and want to have an up-date of new findings in the field, particularly of those outside their immediate specialisation. It will also be useful for basic researchers interested in related scientific areas and the clinical context of their work.
Publisher: Karger Medical and Scientific Publishers
ISBN: 3805579608
Category : Medical
Languages : en
Pages : 341
Book Description
Cystic fibrosis used to be thought of as a respiratory and digestive disease, with a uniformly and rapidly fatal outcome. The spectrum of the disease has broadened into the mild atypical case, presenting in middle age, with the potential for complications in virtually every system of the body. In the past few years there has been an explosion of knowledge of the basic science of the defect. The editors have therefore invited the leading scientists and clinicians in the field of cystic fibrosis to describe the recent advances in this disease. Although there are many 'Recent Advances' texts, previous books have been selective in their choice of topics. This book is the first to cover the entire field of this complex disease, and encompasses the rapidly moving topics of the basic molecular and cellular biology as well as the recent multi-system, multi-disciplinary advances in the clinical care of patients. The authors have been charged with writing only about new developments and not to rehash old literature. The bulk of the references is therefore less than five years old. This book addresses all professionals who treat cystic fibrosis and want to have an up-date of new findings in the field, particularly of those outside their immediate specialisation. It will also be useful for basic researchers interested in related scientific areas and the clinical context of their work.
Cystic Fibrosis, Third Edition
Author: Margaret Hodson
Publisher: CRC Press
ISBN: 1444113690
Category : Medical
Languages : en
Pages : 523
Book Description
This international and authoritative work, which brings together current knowledge in the field of cystic fibrosis, has become established in previous editions as a leading reference in the field. The third edition continues to provide everything that the clinician or allied health professional treating patients with cystic fibrosis will need in a single manageable volume. Thoroughly revised and updated throughout, it reflects the significant advances that have been made in the field since the second edition published in 2000. Cystic Fibrosis evaluates in detail the basic science that underlies the disease and its progression, putting it into a clinical context. Diagnostic and clinical aspects are covered in depth, as are monitoring the condition and the importance of multi-disciplinary care, reflected in the sections into which the new edition has been sub-divided to improve accessibility. Future developments, including novel therapies, are covered in a concluding section. The clinical areas have been much expanded, with the introduction of separate chapters covering sleep, lung mechanics and the work of breathing, upper airway disease, insulin deficiency and diabetes, bone disease, and sexual and reproductive issues. A new section on monitoring discusses the use of databases to improve patient care, and covers monitoring in different age groups, exercise testing and the outcomes of clinical trials in these areas. Separate chapters are devoted to paramedical issues, including nursing, physiotherapy, psychology, and palliative and spiritual care. Throughout, the emphasis is on providing an up-to-date and balanced review of both the clinical and basic sciences aspects of the subject, and to reflect the multi-disciplinary nature of the cystic fibrosis care team. Drawing on the expertise of a team of international specialists from a variety of backgrounds, the third edition of Cystic Fibrosiswill continue to find a broad readership among respiratory physicians, paediatricians, specialist nurses and other health professionals working with patients with cystic fibrosis.
Publisher: CRC Press
ISBN: 1444113690
Category : Medical
Languages : en
Pages : 523
Book Description
This international and authoritative work, which brings together current knowledge in the field of cystic fibrosis, has become established in previous editions as a leading reference in the field. The third edition continues to provide everything that the clinician or allied health professional treating patients with cystic fibrosis will need in a single manageable volume. Thoroughly revised and updated throughout, it reflects the significant advances that have been made in the field since the second edition published in 2000. Cystic Fibrosis evaluates in detail the basic science that underlies the disease and its progression, putting it into a clinical context. Diagnostic and clinical aspects are covered in depth, as are monitoring the condition and the importance of multi-disciplinary care, reflected in the sections into which the new edition has been sub-divided to improve accessibility. Future developments, including novel therapies, are covered in a concluding section. The clinical areas have been much expanded, with the introduction of separate chapters covering sleep, lung mechanics and the work of breathing, upper airway disease, insulin deficiency and diabetes, bone disease, and sexual and reproductive issues. A new section on monitoring discusses the use of databases to improve patient care, and covers monitoring in different age groups, exercise testing and the outcomes of clinical trials in these areas. Separate chapters are devoted to paramedical issues, including nursing, physiotherapy, psychology, and palliative and spiritual care. Throughout, the emphasis is on providing an up-to-date and balanced review of both the clinical and basic sciences aspects of the subject, and to reflect the multi-disciplinary nature of the cystic fibrosis care team. Drawing on the expertise of a team of international specialists from a variety of backgrounds, the third edition of Cystic Fibrosiswill continue to find a broad readership among respiratory physicians, paediatricians, specialist nurses and other health professionals working with patients with cystic fibrosis.
Pulmonary Rehabilitation
Author: Claudio Donner
Publisher: CRC Press
ISBN: 0340810173
Category : Medical
Languages : en
Pages : 423
Book Description
Pulmonary rehabilitation programmes are now a fundamental part of the clinical management of patients with chronic respiratory diseases. This comprehensive reference book places pulmonary rehabilitation within the wider framework of respiratory disease, and the health burden that this now poses worldwide. Part one of the book examines the evidence supporting the use of pulmonary rehabilitation programmes, new trends and socio-economic implications, and the scientific bases of techniques used. In part two, the reader is given important guidance on assessing patients for rehabilitation and what the cost implications are for patients and the health care system. The last part of the book provides a general overview and discusses specific problems of delivering pulmonary rehabilitation. Throughout the book, contributions drawn from a broad range of countries compare and contrast practice around the world where differences have developed, and discuss the clinical evidence that supports current thinking.
Publisher: CRC Press
ISBN: 0340810173
Category : Medical
Languages : en
Pages : 423
Book Description
Pulmonary rehabilitation programmes are now a fundamental part of the clinical management of patients with chronic respiratory diseases. This comprehensive reference book places pulmonary rehabilitation within the wider framework of respiratory disease, and the health burden that this now poses worldwide. Part one of the book examines the evidence supporting the use of pulmonary rehabilitation programmes, new trends and socio-economic implications, and the scientific bases of techniques used. In part two, the reader is given important guidance on assessing patients for rehabilitation and what the cost implications are for patients and the health care system. The last part of the book provides a general overview and discusses specific problems of delivering pulmonary rehabilitation. Throughout the book, contributions drawn from a broad range of countries compare and contrast practice around the world where differences have developed, and discuss the clinical evidence that supports current thinking.
Cystic Fibrosis
Author: Alex Horsley
Publisher: Oxford Respiratory Medicine Li
ISBN: 0198702949
Category : Medical
Languages : en
Pages : 205
Book Description
Cystic Fibrosis (CF) is a multi-system disorder, requiring not just respiratory expertise but also management of nutrition, and diabetes, as well psychosocial issues. This pocketbook will be a concise companion for all health care professionals in respiratory medicine, paediatrics, and primary care who manage, or come across, patients with CF. The book will cover all aspects of care, including both paediatric and adult-specific issues and summarize up-to-date literature in a concise and focussed style. There will be an emphasis on the practical aspects of management with the effects of CF in the lung, the microbiology of pulmonary CF, and management of exacerbations covered in separate chapters. The psychosocial aspects of CF care, end of life care and lung transplantation will also be addressed, and potential future therapies reviewed. This second edition will be updated to reflect the UK CF Trust Standards of Care; include emerging organisms, eg Pandorea, and treatment guidelines and Cochrane reviews; an expanded section on physiotherapy; and a new chapter on pharmacopeia.
Publisher: Oxford Respiratory Medicine Li
ISBN: 0198702949
Category : Medical
Languages : en
Pages : 205
Book Description
Cystic Fibrosis (CF) is a multi-system disorder, requiring not just respiratory expertise but also management of nutrition, and diabetes, as well psychosocial issues. This pocketbook will be a concise companion for all health care professionals in respiratory medicine, paediatrics, and primary care who manage, or come across, patients with CF. The book will cover all aspects of care, including both paediatric and adult-specific issues and summarize up-to-date literature in a concise and focussed style. There will be an emphasis on the practical aspects of management with the effects of CF in the lung, the microbiology of pulmonary CF, and management of exacerbations covered in separate chapters. The psychosocial aspects of CF care, end of life care and lung transplantation will also be addressed, and potential future therapies reviewed. This second edition will be updated to reflect the UK CF Trust Standards of Care; include emerging organisms, eg Pandorea, and treatment guidelines and Cochrane reviews; an expanded section on physiotherapy; and a new chapter on pharmacopeia.
Cystic Fibrosis in the 21st Century
Author: Andrew Bush
Publisher: Karger Medical and Scientific Publishers
ISBN: 3318012408
Category : Medical
Languages : en
Pages : 341
Book Description
Cystic fibrosis used to be thought of as a respiratory and digestive disease, with a uniformly and rapidly fatal outcome. The spectrum of the disease has broadened into the mild atypical case, presenting in middle age, with the potential for complications in virtually every system of the body. In the past few years there has been an explosion of knowledge of the basic science of the defect. The editors have therefore invited the leading scientists and clinicians in the field of cystic fibrosis to describe the recent advances in this disease. Although there are many 'Recent Advances' texts, previous books have been selective in their choice of topics. This book is the first to cover the entire field of this complex disease, and encompasses the rapidly moving topics of the basic molecular and cellular biology as well as the recent multi-system, multi-disciplinary advances in the clinical care of patients. The authors have been charged with writing only about new developments and not to rehash old literature. The bulk of the references is therefore less than five years old. This book addresses all professionals who treat cystic fibrosis and want to have an update of new findings in the field, particularly of those outside their immediate specialisation. It will also be useful for basic researchers interested in related scientific areas and the clinical context of their work.
Publisher: Karger Medical and Scientific Publishers
ISBN: 3318012408
Category : Medical
Languages : en
Pages : 341
Book Description
Cystic fibrosis used to be thought of as a respiratory and digestive disease, with a uniformly and rapidly fatal outcome. The spectrum of the disease has broadened into the mild atypical case, presenting in middle age, with the potential for complications in virtually every system of the body. In the past few years there has been an explosion of knowledge of the basic science of the defect. The editors have therefore invited the leading scientists and clinicians in the field of cystic fibrosis to describe the recent advances in this disease. Although there are many 'Recent Advances' texts, previous books have been selective in their choice of topics. This book is the first to cover the entire field of this complex disease, and encompasses the rapidly moving topics of the basic molecular and cellular biology as well as the recent multi-system, multi-disciplinary advances in the clinical care of patients. The authors have been charged with writing only about new developments and not to rehash old literature. The bulk of the references is therefore less than five years old. This book addresses all professionals who treat cystic fibrosis and want to have an update of new findings in the field, particularly of those outside their immediate specialisation. It will also be useful for basic researchers interested in related scientific areas and the clinical context of their work.
Pediatric Thoracic Surgery
Author: D.H. Parikh
Publisher: Springer Science & Business Media
ISBN: 1848009038
Category : Medical
Languages : en
Pages : 593
Book Description
This text covers new innovations and concepts in pediatric thoracic surgery practice, basic science and evidence, and the technical aspects of common and rare operative procedures. It is essential for pediatric surgical trainees and consultants with interest in pediatric thoracic surgery. Providing comprehensive coverage of newer developments, it is also a useful reference work for pediatric and thoracic surgeons and a valuable guide for surgeons (adult or pediatric) managing pediatric thoracic surgery on occasional basis or only during acute emergency.Covering the subjects within pediatric thoracic surgery (non-cardiac) in significant depth, this book acts as a reference text for consultants undertaking pediatric thoracic work as well as for pediatric respiratory, anesthetists and fetal medicine doctors. Topics within this book will also be of interest to pediatric respiratory physicians and pediatric oncologists.
Publisher: Springer Science & Business Media
ISBN: 1848009038
Category : Medical
Languages : en
Pages : 593
Book Description
This text covers new innovations and concepts in pediatric thoracic surgery practice, basic science and evidence, and the technical aspects of common and rare operative procedures. It is essential for pediatric surgical trainees and consultants with interest in pediatric thoracic surgery. Providing comprehensive coverage of newer developments, it is also a useful reference work for pediatric and thoracic surgeons and a valuable guide for surgeons (adult or pediatric) managing pediatric thoracic surgery on occasional basis or only during acute emergency.Covering the subjects within pediatric thoracic surgery (non-cardiac) in significant depth, this book acts as a reference text for consultants undertaking pediatric thoracic work as well as for pediatric respiratory, anesthetists and fetal medicine doctors. Topics within this book will also be of interest to pediatric respiratory physicians and pediatric oncologists.
Treatment of Cystic Fibrosis and Other Rare Lung Diseases
Author: Arata Azuma
Publisher: Springer
ISBN: 3034809778
Category : Medical
Languages : en
Pages : 266
Book Description
This volume describes the pathogenesis and pathophysiology of several pulmonary diseases as well as their treatment. It also discusses the underlying genetic and molecular biological basis, which opens the way for new treatments for these conditions. It focuses on the treatment of cystic fibrosis including CFTR (cystic fibrosis transmembrane-conductance regulator) modulator therapies, drug therapies that augment airway surface liquid as well as anti-inflammatory and anti-infective therapies. Further topics include long-term, low-dose macrolide therapy for diffuse panbronchiolitis; novel agents for previously untreatable idiopathic pulmonary fibrosis; possible new treatments for pulmonary alveolar proteinosis (PAP); and multiple novel therapeutic targets for treating lymphangiomyomatosis. Research into these conditions has led to major advances in our understanding of the underlying genetic and molecular basis of this disease, and to dramatic improvements in survival and quality of life for affected individuals.
Publisher: Springer
ISBN: 3034809778
Category : Medical
Languages : en
Pages : 266
Book Description
This volume describes the pathogenesis and pathophysiology of several pulmonary diseases as well as their treatment. It also discusses the underlying genetic and molecular biological basis, which opens the way for new treatments for these conditions. It focuses on the treatment of cystic fibrosis including CFTR (cystic fibrosis transmembrane-conductance regulator) modulator therapies, drug therapies that augment airway surface liquid as well as anti-inflammatory and anti-infective therapies. Further topics include long-term, low-dose macrolide therapy for diffuse panbronchiolitis; novel agents for previously untreatable idiopathic pulmonary fibrosis; possible new treatments for pulmonary alveolar proteinosis (PAP); and multiple novel therapeutic targets for treating lymphangiomyomatosis. Research into these conditions has led to major advances in our understanding of the underlying genetic and molecular basis of this disease, and to dramatic improvements in survival and quality of life for affected individuals.