Download or read book Multiple Congenital Anomalies written by Robin M. Winter and published by Springer. This book was released on 2013-12-20 with total page 1441 pages. Available in PDF, EPUB and Kindle. Book excerpt: The size of the problem, can be assessed This book is an off-shoot of the computerized from the following. Of 50 children bom, 1 London Dysmorphology Database which is now widely used by many geneticists and will have an easily detectable major malfor mation. Many of these will have a single dysmorphologists. Both the database and this malformation, but in the region of 8 in 1000 book have arisen out of a need to cope with the ever increasing nurober of multiple will have multiple abnormalities. This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and where infor mation can be found in the Iiterature. Indeed rest needing tobe diagnosed by other means. there are more than 2000 non-chromosomal It is to the diagnosis of this latter group that this book is dedicated. multiple malformation syndromes to which access is essential. If computerized databases have solved THE DIAGNOSIS OF DYSMORPHIC some of the problems, why is there a need SYNDROMES for this book? There are many physicians who do not have a desk computer or do not History feel at ease in using one. In addition geneticists are doing more satellite clinics and Before identifying the specific dysmorphic in some circumstances it would be more features, at least a three generation family history needs to be taken. It is necessary to convenient to carry a book than a computer.
Download or read book Multiple Congenital Abnormalities written by Endre Czeizel and published by . This book was released on 1988 with total page 474 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Disease Control Priorities Third Edition Volume 1 written by Haile T. Debas and published by World Bank Publications. This book was released on 2015-03-23 with total page 445 pages. Available in PDF, EPUB and Kindle. Book excerpt: Essential Surgery is part of a nine volume series for Disease Control Priorities which focuses on health interventions intended to reduce morbidity and mortality. The Essential Surgery volume focuses on four key aspects including global financial responsibility, emergency procedures, essential services organization and cost analysis.
Download or read book Essentials of Anesthesia for Infants and Neonates written by Mary Ellen McCann and published by Cambridge University Press. This book was released on 2018-02-22 with total page 465 pages. Available in PDF, EPUB and Kindle. Book excerpt: A practical, comprehensive guide to the special needs of infants and neonates undergoing anesthesia.
Download or read book Congenital Anomalies in Newborn Infants written by Rita P. Verma and published by BoD – Books on Demand. This book was released on 2021-09-15 with total page 228 pages. Available in PDF, EPUB and Kindle. Book excerpt: Congenital anomalies constitute a large group of diverse biochemical, histological, and anatomical defects presenting at birth and caused by a myriad of inherently unrelated etiopathogenic factors. A significant number of cases are idiopathic. With striking variability in clinical manifestation, the outcomes range from inconsequential to lethal, with immense medical, social, emotional, and financial implications. The principles of management vary from medical, surgical, none, or both, and the surgical procedures can be lifesaving or merely cosmetic. This book discusses the epidemiology, etiopathogenesis, recurrence risk, and specific clinical and investigational evaluation of congenital malformations. In addition, the book reviews the embryology, anatomy, pathophysiology, and updated management concepts of some of the most complex and intriguing anomalies of the major organ systems.
Download or read book Congenital Anomalies written by Stefania Tudorache and published by BoD – Books on Demand. This book was released on 2018-05-02 with total page 546 pages. Available in PDF, EPUB and Kindle. Book excerpt: Nowadays, nobody can imagine practicing obstetrics without using obstetrical ultrasound. Working in the prenatal diagnosis field requires dedication, patience, skills, experience, caution, and empathy. The concept of this book was guided by the desire to provide some help to the ultrasound operators. On a daily basis, they are confronted with the challenging task of ruling out or suspecting/confirming the diagnosis of fetal anomalies, either structural or chromosomal. The chapters of this book contain objective and exhaustive updated reviews of the pertinent literature, so that the reader would have a wide reference basis on each subject. Yet, many authors scan the fetus themselves or are directly involved with managing pregnancies with structural malformations or chromosomal anomalies. They kindly shared their personal experience and lessons learned over the years. This book is beneficial for all the professionals working in the prenatal diagnosis.
Download or read book Scientific Frontiers in Developmental Toxicology and Risk Assessment written by National Research Council and published by National Academies Press. This book was released on 2000-12-21 with total page 348 pages. Available in PDF, EPUB and Kindle. Book excerpt: Scientific Frontiers in Developmental Toxicology and Risk Assessment reviews advances made during the last 10-15 years in fields such as developmental biology, molecular biology, and genetics. It describes a novel approach for how these advances might be used in combination with existing methodologies to further the understanding of mechanisms of developmental toxicity, to improve the assessment of chemicals for their ability to cause developmental toxicity, and to improve risk assessment for developmental defects. For example, based on the recent advances, even the smallest, simplest laboratory animals such as the fruit fly, roundworm, and zebrafish might be able to serve as developmental toxicological models for human biological systems. Use of such organisms might allow for rapid and inexpensive testing of large numbers of chemicals for their potential to cause developmental toxicity; presently, there are little or no developmental toxicity data available for the majority of natural and manufactured chemicals in use. This new approach to developmental toxicology and risk assessment will require simultaneous research on several fronts by experts from multiple scientific disciplines, including developmental toxicologists, developmental biologists, geneticists, epidemiologists, and biostatisticians.
Download or read book Congenital Malformation Syndromes written by D. Donnai and published by CRC Press. This book was released on 1998-09-04 with total page 640 pages. Available in PDF, EPUB and Kindle. Book excerpt: This title provides an addition to the study of muliple congenital anomaly syndromes. It consists of a series of in-depth review articles on 73 congenital malformation syndromes covering newly described syndromes along side ones where threre has been significant advances in knowledge recently. Each article focuses on the range of physical and developmental effects of the syndromes history and the underlying biological mechanisms.
Download or read book Pediatric Neurology Part I written by Olivier Dulac and published by Newnes. This book was released on 2013-04-24 with total page 893 pages. Available in PDF, EPUB and Kindle. Book excerpt: The child is neither an adult miniature nor an immature human being: at each age, it expresses specific abilities that optimize adaptation to its environment and development of new acquisitions. Diseases in children cover all specialties encountered in adulthood, and neurology involves a particularly large area, ranging from the brain to the striated muscle, the generation and functioning of which require half the genes of the whole genome and a majority of mitochondrial ones. Human being nervous system is sensitive to prenatal aggression, is particularly immature at birth and development may be affected by a whole range of age-dependent disorders distinct from those that occur in adults. Even diseases more often encountered in adulthood than childhood may have specific expression in the developing nervous system. The course of chronic neurological diseases beginning before adolescence remains distinct from that of adult pathology – not only from the cognitive but also motor perspective, right into adulthood, and a whole area is developing for adult neurologists to care for these children with persisting neurological diseases when they become adults. Just as pediatric neurology evolved as an identified specialty as the volume and complexity of data became too much for the general pediatician or the adult neurologist to master, the discipline has now continued to evolve into so many subspecialties, such as epilepsy, neuromuscular disease, stroke, malformations, neonatal neurology, metabolic diseases, etc., that the general pediatric neurologist no longer can reasonably possess in-depth expertise in all areas, particularly in dealing with complex cases. Subspecialty expertise thus is provided to some trainees through fellowship programmes following a general pediatric neurology residency and many of these fellowships include training in research. Since the infectious context, the genetic background and medical practice vary throughout the world, this diversity needs to be represented in a pediatric neurology textbook. Taken together, and although brain malformations (H. Sarnat & P. Curatolo, 2007) and oncology (W. Grisold & R. Soffietti) are covered in detail in other volumes of the same series and therefore only briefly addressed here, these considerations justify the number of volumes, and the number of authors who contributed from all over the world. Experts in the different subspecialties also contributed to design the general framework and contents of the book. Special emphasis is given to the developmental aspect, and normal development is reminded whenever needed – brain, muscle and the immune system. The course of chronic diseases into adulthood and ethical issues specific to the developing nervous system are also addressed. A volume in the Handbook of Clinical Neurology series, which has an unparalleled reputation as the world's most comprehensive source of information in neurology International list of contributors including the leading workers in the field Describes the advances which have occurred in clinical neurology and the neurosciences, their impact on the understanding of neurological disorders and on patient care
Download or read book American Academy of Pediatrics Textbook of Pediatric Care written by Jane Meschan Foy and published by . This book was released on 2016-03-31 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: The definitive manual of pediatric medicine - completely updated with 75 new chapters and e-book access.
Download or read book Reducing Birth Defects written by Institute of Medicine and published by National Academies Press. This book was released on 2003-10-27 with total page 270 pages. Available in PDF, EPUB and Kindle. Book excerpt: Each year more than 4 million children are born with birth defects. This book highlights the unprecedented opportunity to improve the lives of children and families in developing countries by preventing some birth defects and reducing the consequences of others. A number of developing countries with more comprehensive health care systems are making significant progress in the prevention and care of birth defects. In many other developing countries, however, policymakers have limited knowledge of the negative impact of birth defects and are largely unaware of the affordable and effective interventions available to reduce the impact of certain conditions. Reducing Birth Defects: Meeting the Challenge in the Developing World includes descriptions of successful programs and presents a plan of action to address critical gaps in the understanding, prevention, and treatment of birth defects in developing countries. This study also recommends capacity building, priority research, and institutional and global efforts to reduce the incidence and impact of birth defects in developing countries.
Download or read book Emery and Rimoin s Principles and Practice of Medical Genetics and Genomics written by Reed E. Pyeritz and published by Academic Press. This book was released on 2018-11-20 with total page 414 pages. Available in PDF, EPUB and Kindle. Book excerpt: For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With detailed coverage in contributions from over 250 of the world’s most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference 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 to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. 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 to medicine more broadly.Clinical Principles and Applications thoroughly addresses general methods and approaches to genetic counseling, genetic diagnostics, treatment pathways, and drug discovery. Additionally, new and updated chapters explore the clinical implementation of genomic technologies, analytics, and therapeutics, with special attention paid to developing technologies, common challenges, patient care, and ethical and legal aspects.With regular advances in genomic technologies propelling precision medicine into the clinic, the seventh edition of Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for the health professionals and researchers. Fully revised and up-to-date, this new edition introduces genetic researchers, students, and health professionals to general principles of genetic counseling, genetic and genomic diagnostics, treatment pathways, drug discovery, and the application of genomic technologies, analytics, and therapeutics in clinical practice Examines key topics and developing areas within clinical genomics, including genetic evaluation of patients, clinical trials and drug discovery, genetic health records, cytogenetic analysis, diagnostic molecular genetics, small molecule genetic therapeutics, gene product replacement, clinical teratology, transplantation genetics, and ethical and legal aspects of genomic medicine Includes color images supporting identification, concept illustration, and method processing Features contributions by leading international researchers and practitioners of medical genetics
Download or read book Ultrasound of Fetal Syndromes written by Beryl R. Benacerraf and published by . This book was released on 1998 with total page 488 pages. Available in PDF, EPUB and Kindle. Book excerpt: This unique book facilitates recognition and identification of the fetal abnormalities seen in ultrasound. It is the only resource that provides so much detail about all of the fetal abnormalities currently known. Enables readers to approach a given diagnostic challenge either by looking up its sonographic presentation, or by turning directly to the name of the syndrome that they believe is responsible. An easy-to-use organization makes it simple for readers to locate the most reliable information available today.
Download or read book Pediatric Neurology Part III written by and published by Newnes. This book was released on 2013-04-24 with total page 731 pages. Available in PDF, EPUB and Kindle. Book excerpt: The child is neither an adult miniature nor an immature human being: at each age, it expresses specific abilities that optimize adaptation to its environment and development of new acquisitions. Diseases in children cover all specialties encountered in adulthood, and neurology involves a particularly large area, ranging from the brain to the striated muscle, the generation and functioning of which require half the genes of the whole genome and a majority of mitochondrial ones. Human being nervous system is sensitive to prenatal aggression, is particularly immature at birth and development may be affected by a whole range of age-dependent disorders distinct from those that occur in adults. Even diseases more often encountered in adulthood than childhood may have specific expression in the developing nervous system. The course of chronic neurological diseases beginning before adolescence remains distinct from that of adult pathology – not only from the cognitive but also motor perspective, right into adulthood, and a whole area is developing for adult neurologists to care for these children with persisting neurological diseases when they become adults. Just as pediatric neurology evolved as an identified specialty as the volume and complexity of data became too much for the general pediatician or the adult neurologist to master, the discipline has now continued to evolve into so many subspecialties, such as epilepsy, neuromuscular disease, stroke, malformations, neonatal neurology, metabolic diseases, etc., that the general pediatric neurologist no longer can reasonably possess in-depth expertise in all areas, particularly in dealing with complex cases. Subspecialty expertise thus is provided to some trainees through fellowship programmes following a general pediatric neurology residency and many of these fellowships include training in research. Since the infectious context, the genetic background and medical practice vary throughout the world, this diversity needs to be represented in a pediatric neurology textbook. Taken together, and although brain malformations (H. Sarnat & P. Curatolo, 2007) and oncology (W. Grisold & R. Soffietti) are covered in detail in other volumes of the same series and therefore only briefly addressed here, these considerations justify the number of volumes, and the number of authors who contributed from all over the world. Experts in the different subspecialties also contributed to design the general framework and contents of the book. Special emphasis is given to the developmental aspect, and normal development is reminded whenever needed – brain, muscle and the immune system. The course of chronic diseases into adulthood and ethical issues specific to the developing nervous system are also addressed. A volume in the Handbook of Clinical Neurology series, which has an unparalleled reputation as the world's most comprehensive source of information in neurology International list of contributors including the leading workers in the field Describes the advances which have occurred in clinical neurology and the neurosciences, their impact on the understanding of neurological disorders and on patient care
Download or read book Problems of Birth Defects written by T.V.N. Persaud and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 395 pages. Available in PDF, EPUB and Kindle. Book excerpt: Surprisingly, the beginning of a modern approach This collection of articles and commentaries is an to the problems of birth defects is relatively recent integration of information from many disciplines, and dates from Gregg's classical report in 1941 that and presents a comprehensive survey of both recent mothers who contracted rubella during the first tri and previously reported work related to the major mester of pregnancy gave birth to infants with severe aspects of birth defects. In particular, an attempt multiple anomalies. For the first time, an environ has been made to provide a critical assessment of mental agent was found to be teratogenic in man current concepts and to identify areas in need of and was documented in a thoroughly convincing further investigation. manner. Since then, many important discoveries The scope of this volume and space limitations and significant developments have been made, par precluded discussion of and reference to all papers ticularly in the areas of environmental teratogenesis, of relevance or importance: a work of the present hereditary mechanisms, and prenatal diagnosis. nature must necessarily be selective. Some good In recent years, there has been an impressive papers have been left out or given relatively little surge of interest in the causes and prevention of consideration. It is my hope that the list of Further birth defects. Undoubtedly this resulted not only References will be consulted and should compensate from the thalidomide tragedy, but also from the for this lack of completeness.
Download or read book Chest Wall Deformities written by Amulya K. Saxena and published by Springer. This book was released on 2017-06-07 with total page 717 pages. Available in PDF, EPUB and Kindle. Book excerpt: Chest wall deformities encompass a variety of congenital and acquired pathologies that affect the pediatric and the adult population. This comprehensive work offers detailed state of the art information on the changing paradigms in ultrastructural evaluation, diagnosis, clinical investigation, and treatment and reflects the shift towards conservative and minimally invasive treatment options. The combination of concise descriptions and high-quality images will provide the reader with a clear understanding of all relevant concepts. Diagnostic and imaging modalities are analysed in depth, and surgical procedures are explained step by step with the aid of clear, informative illustrations. Experts in the management of chest wall deformities from all over the world have contributed their experiences and approaches, making this a unique textbook in the field and an ideal reference work for clinicians and surgeons.
Download or read book A Short Textbook of Clinical Imaging written by David Sutton and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 838 pages. Available in PDF, EPUB and Kindle. Book excerpt: In recent decades imaging has proved one of the most rapidly expanding areas of medicine. The present day trainees entering radiology are no longer trained by radiologists who cover and are well informed on most aspects of their specialty as was the case with previous generations. Instead they encounter a confusing array of subspecialists divided both by systems and by techniques. The system specialists include neuroradiologists. vascular radiologists. gastrointestinal radiologists. chest radiologists. and skeletal radiologists. Technique specialists include experts in nuclear medicine. ultrasound. computed tomography and magnetic resonance. and there are subspecialists in both groups. not to mention others like pediatric radiologists who fit into neither classification. It is our experience that this plethora of experts each with his own individual approach is bewildering and intimidating to the novice radiologist. The numerous monographs on individual subjects and tech niques and the large textbooks so valuable to the more advanced radiologist are also confusing and unhelp ful to the new recruit. It was for these reasons that we decided to embark on this new Short Textbook. The aim was to produce a concise and integrated volume which could provide the beginner with a balanced and realistic view of the true place of different imaging techniques in current practice. Details of technique are generally excluded; most will be inevitably absorbed with increasing practical experience. The emphasis throughout is on clinical usage. and the relative and often changing importance of different methods in specific clinical contexts.
