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This comprehensive, easy to read reference addresses the clinical implications of congenital anomalies of the kidney and urinary tract (CAKUT) in children. Authored by a panel of internationally recognized pediatric nephrologists and urologists, chapters discuss clinical presentation, workup, interpretation of imaging studies, genetics, prenatal diagnosis, prevention and treatment of various anomalies to help the practitioner understand, diagnose and manage CAKUT. Tables, figures, algorithms and an extensive appendix listing conditions and syndromes associated with CAKUT are featured to assist physicians in the differential diagnosis and workup of different conditions.
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.
Congenital anomalies, also known as birth defects are the conditions present at birth that affects the intellectual, developmental or physical health of an infant. Such disabilities can range from mild to severe. Functional disorders, which affect the function of a body part, may include degenerative disorders and metabolic disorders. Structural disorders manifest as problems with the shape of a body part. Congenital anomalies can arise from chromosomal or genetic disorders, infections during pregnancy and due to exposure to certain chemicals or drugs. Such abnormalities may be visible at birth, or can be detected before birth through prenatal tests and through screening tests after birth. Their treatment varies according to the type of defect and its severity. Treatment may encompass medicational, surgical and therapeutical interventions. Assistive technology can also aid in providing a better quality of life to such individuals. This book includes some of the vital pieces of work being conducted across the world, on various topics related to congenital anomalies. The topics included herein on the diagnosis and treatment of congenital anomalies, are of utmost significance and bound to provide incredible insights to readers. The extensive content of this book provides the readers with a thorough understanding of the subject.
Birth Defects Surveillance: A Manual for Programme Managers was highly commended in the Public Health category of the British Medical Association 2015 Medical Book Competition. Congenital anomalies, also known as birth defects, are structural or functional abnormalities, including metabolic disorders, which are present from birth. Congenital anomalies are a diverse group of disorders of prenatal origin, which can be caused by single gene defects, chromosomal disorders, multifactorial inheritance, environmental teratogens or micronutrient deficiencies. This manual is intended to serve as a tool for the development, implementation and ongoing improvement of a congenital anomalies surveillance program, particularly for countries with limited resources. The focus of the manual is on population-based and hospital-based surveillance programs. Some countries may not find it feasible to begin with the development of a population-based program. Therefore, the manual focuses on the methodology needed for the development of both population-based and hospital-based surveillance program. Further, although many births in predominantly low- and middle-income countries occur outside of hospitals, some countries with limited resources may choose to start with a hospital-based surveillance program and expand it later into one that is population based. Any country wishing to expand its current hospital-based program into a population-based program, or to begin the initial development of a population-based registry, should find this manual helpful in reaching its goal. This manual provides selected examples of congenital anomalies. Typically, these anomalies are severe enough that they would probably be captured during the first few days following birth. Also, because of their severity and frequency, these selected conditions have significant public health impact, and for some there is a potential for primary prevention. Nevertheless, these are just suggestions, and countries can choose to monitor a subset of these conditions or add other congenital anomalies to meet their needs. This manual is a collaborative effort between the World Health Organization (WHO), the National Center on Birth Defects and Developmental Disabilities from the US Centers for Disease Control and Prevention (CDC) and the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR).
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.
Congenital Malformations of the Head and Neck offers a unique conceptual and visual approach to children with congenital malformations of the head and neck. Developed by renowned leaders in the field, this title is richly illustrated with a wealth of patient photos, radiology and endoscopic images of malformations. Starting with the genetics of common congenital syndromes, Congenital Malformations of the Head and Neck goes on to comprehensively cover malformations of the ear, nose, nasopharynx, oral cavity, oropharynx, cleft lip and palate, larynx, trachea, and neck. Easy-to-read and an indispensable reference and teaching resource, this title will serve as an invaluable reference for clinicians, neurologists, pediatricians, otolaryngologists and head and neck surgeons. It should also be of great interest to fellows and residents.
Bringing together the most up-to-date information on congenital Müllerian anomalies, this comprehensive text explores advances in understanding the embryological causes of these malformations, the systems used to classify the many types of malformation that may be seen, and the field’s current diagnosis, evaluation and management techniques. Surgical strategies, including minimally invasive techniques, are described in detail, with chapters divided into two sections: vertical anomalies, such as imperforate hymen, transverse genital septum, and cervical and Müllerian agenesis; and lateral anomalies, such as septate, unicornate and bicornate uterus, uterus didelphys and obstructed hemivagina. Aimed at helping to maintain the future reproductive needs of the patient utilizing assisted reproductive technologies, this book is an excellent reference for OB/GYN surgeons and reproductive medicine specialists treating both adolescent or adult patients with these congenital malformations.
This book provides comprehensive but concise data for congenital diseases of the penis, explaining the embryological and anatomical background, incidence, historical background, investigation approaches, imaging and management of each condition. The book is organised in themed parts, starting from embryology and normal anatomy and examining anomalies for each anatomical part: prepuce, penis, urinary meatus, penile urethra with a final part of acquired penile diseases with congenital background. With clear illustrations in each chapter to explain each condition in detail, online animations for the difficult and complex cases are also provided. Practitioners in the field of pediatric urology and surgery will find this highly readable book particularly valuable. The author is a pioneer pediatric surgeon with over 30 years’ experience in the field of genitourinary anomalies.
Updated to reflect the recent advances in this fast-changing field, this highly illustrated text examines the latest imaging modalities for prenatal diagnosis of fetal abnormalities. A team of leading authorities provides practical, step-by-step guidance on everything from detection and interpretation...to successful management approaches. Algorithms and management strategies throughout not only describe the features of abnormalities, but also show you how to arrive at a correct diagnosis through the use of color Doppler, 3-D ultrasound, and fetal MR. This 2nd Edition offers the essential practice-proven guidance you need to arrive at confident diagnoses in critical situations. It's a resource you'll turn to time and again! Includes more than 700 illustrations that clearly depict a full range of conditions. Focuses on image interpretation and, wherever possible, correlation of radiographic features with pathologic findings to provide the most accurate and reliable diagnosis possible. Uses a reader-friendly format to facilitate quick access to specific information. Includes new chapters reflecting major advances in magnetic resonance imaging and 3-D ultrasound. Presents an increased use of lists of differential diagnosis.
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.