Congenital Diseases and Syndromes

Congenital Diseases and Syndromes PDF Author: Jarrah Ali Al-Tubaikh
Publisher: Springer Science & Business Media
ISBN: 3642001602
Category : Medical
Languages : en
Pages : 210

Get Book

Book Description
Radiology to me is an art more than a science; an art of imaging the human body, and an art of extracting information from an image. Radiology today is a vital specialty that almost no other medical specialty can work without. Congenital anomalies and syndromes are complex subjects in all medical specialties. They require knowledge of the normal anatomy and of the embryological basis of organogenesis. The importance of recognizing a congenital malformation or an anomaly, which can be the tip of an iceberg of a more complex syndrome, is to prevent future manifestations of a s- drome if possible or to reduce its severity. Due to this concept, I had an interest in studying how to use the radiological modalities in diagnosing congenital malfor- tions as early as possible. Although radiology offers very powerful tools for diag- sis, the basics of medicine are still the main tools to be used for diagnosis. History, observation, clinical examination, and laboratory investigations are essential elements for diagnosis, which need to be used before radiology investigations are initiated. The idea of this book is based on a simple principle: it is to link radiology to these basic medical tools. The book is written for junior radiologists, radiology students, and doctors interested in congenital malformations and syndromes in any specialty. Each disease is represented with a de? nition, description, etiology, diagnostic cri- ria, main symptoms, and its typical diagnostic radiological features on the modern radiological modalities available today.

Congenital Diseases and Syndromes

Congenital Diseases and Syndromes PDF Author: Jarrah Ali Al-Tubaikh
Publisher: Springer Science & Business Media
ISBN: 3642001602
Category : Medical
Languages : en
Pages : 210

Get Book

Book Description
Radiology to me is an art more than a science; an art of imaging the human body, and an art of extracting information from an image. Radiology today is a vital specialty that almost no other medical specialty can work without. Congenital anomalies and syndromes are complex subjects in all medical specialties. They require knowledge of the normal anatomy and of the embryological basis of organogenesis. The importance of recognizing a congenital malformation or an anomaly, which can be the tip of an iceberg of a more complex syndrome, is to prevent future manifestations of a s- drome if possible or to reduce its severity. Due to this concept, I had an interest in studying how to use the radiological modalities in diagnosing congenital malfor- tions as early as possible. Although radiology offers very powerful tools for diag- sis, the basics of medicine are still the main tools to be used for diagnosis. History, observation, clinical examination, and laboratory investigations are essential elements for diagnosis, which need to be used before radiology investigations are initiated. The idea of this book is based on a simple principle: it is to link radiology to these basic medical tools. The book is written for junior radiologists, radiology students, and doctors interested in congenital malformations and syndromes in any specialty. Each disease is represented with a de? nition, description, etiology, diagnostic cri- ria, main symptoms, and its typical diagnostic radiological features on the modern radiological modalities available today.

Essentials of Anesthesia for Infants and Neonates

Essentials of Anesthesia for Infants and Neonates PDF Author: Mary Ellen McCann
Publisher: Cambridge University Press
ISBN: 1107069777
Category : Medical
Languages : en
Pages : 465

Get Book

Book Description
A practical, comprehensive guide to the special needs of infants and neonates undergoing anesthesia.

Genetic Syndromes

Genetic Syndromes PDF Author: Nima Rezaei
Publisher:
ISBN: 9783319668161
Category : Genetic disorders
Languages : en
Pages : 8970

Get Book

Book Description
This comprehensive reference work covers the full range of congenital syndromes. The first section uses a general approach discussing broad topics such as worldwide prevalence and possible etiologies of congenital syndromes including genetics, epigenetics and environmental factors. As well as the most common inheritance patterns of congenital syndromes. The next part of the work is organised in sections based on system specified classification of congenital syndromes. The main characteristics of each syndrome are summarized, including background and history, other name, etiology (genetics, epigenetics, and environment), clinical presentation, diagnosis, treatment, follow-up and prognosis, and differential diagnosis. Covering all known congenital syndromes and defining their characteristics, this book is the ultimate reference for clinicians, researchers, and students primary in the fields of genetics and pediatrics but also in other fields as it covers the syndromes of all systems. This book is particularly useful for clinicians in diagnostic and therapeutic approaches to patients. With its apposite and easy-to-use classification this reference work offers straight-forward access to each syndrome. .

The Encyclopedia of Genetic Disorders and Birth Defects

The Encyclopedia of Genetic Disorders and Birth Defects PDF Author: James Wynbrandt
Publisher: Infobase Publishing
ISBN: 1438120958
Category : Juvenile Nonfiction
Languages : en
Pages : 705

Get Book

Book Description
Presents information on congenital birth defects, giving the name, known or suspect cause and brief description as well as available treatments where applicable.

Genetic Disorders, Syndromology and Prenatal Diagnosis

Genetic Disorders, Syndromology and Prenatal Diagnosis PDF Author: T.V.N. Persaud
Publisher: Springer Science & Business Media
ISBN: 9401166692
Category : Science
Languages : en
Pages : 257

Get Book

Book Description
Birth defects have assumed an importance even greater now than in the past because infant mortality rates attributed to congenital anomalies have declined far less than those for other causes of death, such as infectious and nutritional diseases. As many as 50 % of all pregnancies terminate as miscarriages, and in the majority of cases this is the result of faulty intrauterine development. Major congenital malformations are present in at least 2 % of all liveborn infants, and 22 % of all stillbirths and infant deaths are associated with severe congenital anomalies. Not surprisingly, there has been a great proliferation of research into the problems of developmental abnormalities over the past few decades. This series, Advances in the Study of Birth Defects, was conceived in order to provide a comprehensive focal source of up-to-date information for physi cians concerned with the health of the unborn child and for research workers in the fields of fetal medicine and birth defects. The first four volumes featured recent experimental work on selected areas of high priority and intensive investigation, including mechanisms of teratogenesis, teratological evaluation, molecular and cellular aspects of abnormal development, and neural and behavioural teratology. It seems logical and timely that the clinical aspects should now be presented. Accordingly, leading experts were invited to review a broad range of common problems from the standpoint of embryology, aetiology, clinical manifestations, diagnosis and management. This volume deals with genetic disorders and prenatal diagnosis.

Cardiovascular Disability

Cardiovascular Disability PDF Author: Institute of Medicine
Publisher: National Academies Press
ISBN: 030915698X
Category : Medical
Languages : en
Pages : 304

Get Book

Book Description
The Social Security Administration (SSA) uses a screening tool called the Listing of Impairments to identify claimants who are so severely impaired that they cannot work at all and thus immediately qualify for benefits. In this report, the IOM makes several recommendations for improving SSA's capacity to determine disability benefits more quickly and efficiently using the Listings.

The A-Z Reference Book of Syndromes and Inherited Disorders

The A-Z Reference Book of Syndromes and Inherited Disorders PDF Author: P A T R I C I A GILBERT
Publisher: Springer
ISBN: 1489969187
Category : Medical
Languages : en
Pages : 389

Get Book

Book Description
The A-Z Reference Book of Syndromes and Inherited Disorders provides a practical reference for carers and those with a syndrome or inherited disorder. It describes the disorders and problems of both children and adults, considers the day-to-day management of conditions and is written in non-technical language for a wider audience whilst giving enough detail for the medical, nursing and midwifery professions. The text is well indexed and has an extensive glossary. Whilst new methods of diagnosis, investigation and treatment will, of course. occur over the next few years, the basics described in this book will still apply. Social workers, nursery nurses and educationalists will find this reference source invaluable as a basis for assessing needs and potential in their students and clients.

Diagnosis and Management of Adult Congenital Heart Disease E-Book

Diagnosis and Management of Adult Congenital Heart Disease E-Book PDF Author: Michael A. Gatzoulis
Publisher: Elsevier Health Sciences
ISBN: 0702069310
Category : Medical
Languages : en
Pages : 576

Get Book

Book Description
Designed to meet the needs of clinicians working with adults with congenital heart disease, Diagnosis and Management of Adult Congenital Heart Disease , by Drs. Michael A. Gatzoulis, Gary D. Webb, and Piers E. F. Daubeney, offers essential guidance on the anatomical issues, clinical presentation, diagnosis, and treatment options available to practitioners today. This latest edition features completely updated content, including new information for nurses and nurse practitioners who, now more than ever, are playing an important role in the care of adults with CHD. You'll also access four new chapters, illustrated congenital defects, coverage of long-term outcomes, and much more. Drs. Gatzoulis, Webb, and Daubeney lead a team of experts ideally positioned to provide state-of-the-art global coverage of this increasingly important topic. Each disease-oriented chapter is written to a highly structured template and provides key information on incidence, genetics, morphology, presentation, investigation and imaging, and treatment and intervention. Congenital defects are illustrated with full-color line drawings and by the appropriate imaging modality (for example, EKG, x-ray, echocardiogram, MRI, CT, ). Provides coverage of long-term outcomes, including the management of pregnant patients and patients undergoing non-cardiac surgery. Features the addition of four new chapters: A Historic Perspective; Quality of Life in Patients with Pulmonary Hypertension; Psychosocial Issues in ACHD; Supportive and Palliative Care for End-Stage ACHD.

A Dictionary of Congenital Malformations and Disorders

A Dictionary of Congenital Malformations and Disorders PDF Author: J. Gibson
Publisher: CRC Press
ISBN: 1000144518
Category : Medical
Languages : en
Pages : 196

Get Book

Book Description
This is a complete, medically reliable dictionary of congenital malformations and disorders. As the authors explain, Down syndrome is the only common congenital disorder; the other defects and disorders are rare or very rare, some having been reported fewer than 20 times worldwide.This dictionary covers them all. Examples: Aagenaes syndrome is due to congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant-cell hepatitis with fibrosis of the portal tracts. Acrocallosal syndrome is characterized by total or partial absence of the corpus callosum, craniofacial dysmorphism, polydactyly, and severe mental retardation. Other features can be retinal pigmentation anomalies, optic atrophy, strabismus, nystagmus, cleft lip and palate, cardiovascular anomalies, hernia, abnormal nipples, and fits. Acrodysostosis is characterized by prenatal growth deficiency, brachycephaly, de formities of the humerus, radius and ulna, short and broad hands, hypoplastic maxilla, and mental retardation.

Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias

Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias PDF Author: Ralph S. Lachman
Publisher: Mosby
ISBN: 9780323019316
Category : Bones
Languages : en
Pages : 0

Get Book

Book Description
"Revised to reflect the latest advances, the 5th edition of this book: brings you new and expanded coverage of CT, MRI, and ultrasonographic manifestations; provides several illustrative examples of the evolution of a syndrome from infancy to adult life; includes more than 100 new skeletal dysplasias, covering everything from their frequency and clinical and radiological manifestations ... to modes of inheritance and differential diagnosis; presents genetic information on syndromes and disorders, while also covering a number of non-genetic entities; features an expanded Chromosome disorders section that includes guidance on when to test for these conditions; includes a section on Gamuts that helps you look up conditions based on individual traits; and offers an updated Brachydactyly section for the latest guidance in addressing these isolated disorders." "Short, concise descriptions of entities help you glean the most information in the least time, and an alphabetical organization expedites access to the specific information you need for common and uncommon conditions."--Résumé de l'éditeur.