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Pompe disease, also known as acid maltase deficiency or acid alpha-glucosidase deficiency, in its most severe form results in a rapidly progressive, neonatal-onset skeletal and cardiomyopathy, leading to early infantile death without treatment. The development of treatment with recombinant enzyme replacement therapy radically transformed the clinical trajectory of those affected, enabling long-term ventilator-free survival with resolution of cardiomyopathy. These positive clinical outcomes resulted in the implementation of newborn screening programs for Pompe disease across the world. This Special Issue highlights some of the experiences of Pompe screening programs worldwide and discusses public policy and ethical issues elicited by presymptomatic screening for Pompe disease.
Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index. Clinical and diagnostic details with a system and symptom based are given to facilitate an efficient and yet complete diagnostic work-up of individual patients. Further, it offers helpful advice for emergency situations, such as hypoglycemia, hyperammonemia, lactic acidosis or acute encephalopathy. Five different indices allow a quick but complete orientation for common important constellations. Last but not least, it has an appendix with a guide to rapid differential diagnosis of signs and symptoms and when not to suspect metabolic disease. It will help physicians to diagnose patients they may otherwise fail to diagnose and to reduce unnecessary referrals. For metabolic and genetic specialists especially the indices will be helpful as a quick look when being called for advice. It has all it needs to become a gold standard defining the clinical practice in this field.
The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a tribute to Enid Gilbert-Barness and the late Lewis Barness--- both pioneers in this topic. Enid’s unique perspectives on the pathology of genetic disorders and Lew’s unsurpassed knowledge of metabolism integrated with nutrition have inspired the contributors to write interdisciplinary descriptions of generally rare, and always challenging, hereditary metabolic disorders. Discussions of these interesting genetic disorders are organized in the perspective of molecular abnormalities leading to morphologic disturbances with distinct pathology and clinical manifestations. The book emphasizes recent advances such as development of improved diagnostic methods and discovery of new, more effective therapies for many of the diseases. It includes optimal strategies for diagnosis and information on access to specialized laboratories for specific testing. The target audience is a wide variety of clinicians, including pediatricians, neonatologists, obstetricians, maternal-fetal specialists, internists, pathologists, geneticists, and laboratorians engaged in prenatal and/or neonatal screening. In addition, all scientists and health science professionals interested in metabolic diseases will find the comprehensive, integrated chapters informative on the latest discoveries. It is our hope that the 2nd Edition will open new avenues and vistas for our readers and that they will share with us the interest, excitement and passion of the research into all these challenging disorders.
The second edition of The Floppy Infant is devoted to the recognition and diagnosis of the floppy infant syndrome. It includes a review of some of the more important causes and provides a practical approach to the assessment and management such children require. The text of the first edition has been completely revised, but the emphasis has not changed: it remains an immensely practical and up-to-date handbook for the clinician.
A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.
As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever. Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a that topic will become a growing imperative for physicians across primary and specialized care.
Clearly presents the pathology of heart disease from fetus to adolescence, integrating histology and macroscopy with effects of treatment.
Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms used for establishing the diagnosis and differential diagnosis. The highly detailed figures illustrate the metabolic derangement in a uniform way, together with essential aspects of the genetics involved, thus affording clarification and better understanding of the treatment. Topics covered range from general aspects such as the clinical approach, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family, to specific discussions of new modes of treatment, including liver, bone marrow transplantation and somatic gene therapy.
Completely updated to help nurses learn to ìthink geneticallyî Todayís nurses must be able to ìthink geneticallyî to help individuals and families who are affected by genetic disease or contemplating genetic testing. This book is a classic resource for nursing students and practitioners at all levels who need to acquire the knowledge and skills for using genomics in their practice. This completely updated second edition encompasses the many recent advances in genetic research and knowledge, providing essential new information on the science, technology, and clinical application of genomics. It focuses on the provision of individualized patient care based on personal genetics and dispositions. The second edition is designed for use by advanced practice nursing programs, as well as undergraduate programs. It pinpoints new developments in prenatal, maternity, and pediatric issues and supplies new information on genomics-based personal drug therapy, environmental susceptibilities, genetic therapies, epigenetics, and ethics The text features a practical, clinically oriented framework in line with the core competencies defined by the AACN. It delivers information according to a lifespan approach used in the practice setting. The second edition continues to provide basic information on genomics, its impact on healthcare, and genetic disorders. It covers prevention, genetic counseling and referral, neuropsychiatric nursing, and public health. The core of the text presents information on a variety of diseases that affect patients throughout the lifespan, with specific guidance on the nursing role. Also included are tests for a variety of diseases and information on pharmacogenomics, which enable health care providers to select the best drugs for treatment based on a patientís genetic makeup. Plentiful case study examples support the information throughout. Additionally, an instructorís package of PowerPoint slides and a test bank are provided for use at both the graduate and undergraduate levels. New to the Second Edition: Completely updated with several new chapters Personal drug therapy based on genomics Environmental susceptibilities Prenatal detection and diagnosis Newborn and genetic screening Reproductive technologies Ethical issues Genetic therapies Epigenetics Content for graduate-level programs PowerPoint slides and a test bank for all student levels Key Features: Encompasses state-of-the-art genomics from a nursing perspective Provides a practical, clinically oriented lifespan approach Covers science, technology, and clinical application of genomics Addresses prevention, genetic testing, and treatment methods Written for undergraduate- and graduate-level nursing students