The Understanding PAD chart presents an overall view of the symptoms and causes of Peripheral Artery Disease (PAD). A large graphic shows the vascular system with affected areas. Smaller views accompany the sections on stroke, thrombosis, atherosclerosis, along with blood clotting. Heavy cover stock with protective varnish for durability.

Originally published as Preventative Management of Children with Congenital Anomalies and Syndromes, this new edition provides health professionals with an invaluable, structured approach to the preventive care of children with congenital disorders. Over 150 conditions ranging from cerebral palsy to Down syndrome are discussed. The large number of conditions covered and the added perspective of a developmental pediatrician (Dr Cooley) provides a valuable resource for carers and parents. For each disorder there is an introductory summary of key information, followed by more detailed listing of general pediatric and speciality concerns, all structured to provide an integrated approach to patient care. For 32 common disorders or disease categories, preventive management checklists are provided: these checklists provide an ongoing record for the child's medical complications and progress and they are designed to be copied and placed in the medical record. The text provides details of medical complications and preventive recommendations supported by key literature and web resources for parents and professionals.

New discoveries reveal how crucial interactions which determine our destiny occur before birth, when our genes interact with their environment as the embryo and fetus develop. These processes - in the matrix of the womb - are evolutionary echoes of mechanisms which allowed our hunter-gatherer ancestors to survive. These exciting insights into predictive adaptive responses suggest new ways of protecting the health of the fetus, infant and adult. If inappropriate they can trigger obesity, diabetes and heart disease, formerly thought to result solely from adult lifestyle. The new concepts in this book are crucial to understanding the daunting public health burden in societies undergoing rapid transition from poverty to affluence. They add an important new dimension to evolutionary theory. Synthesising developmental biology, evolutionary history, medical science, public health and social policy, this is a ground-breaking and fascinating account by two of the world's leading pioneers in this important emerging field.

Prader-Willi syndrome (PWS) is associated with an assortment of physical, behavioural and cognitive abnormalities which create a broad range of care needs. Information about the syndrome is spread across a variety of disciplines. In this book the authors seek to identify and provide the latest findings about how best to manage the complex medical, nutritional, psychological, educational, social and therapeutic needs of people with PWS. Their approach is an integrated one, centred on the PWS phenotype. Both authors have been involved in the Cambridge PWS study, which is the largest and most rounded of the cohort studies of PWS anywhere in the world. The unique data it provides is the basis of this book.

A practical approach to the investigation and treatment of adult congenital heart disease (ACHD), this fully updated Oxford Specialist Handbook is a concise and accessible overview of a complex condition. Packed with straightforward advice, management strategies and key clinical points, it equips clinicians with a sound understanding of the principles and physiology of ACHD. An ideal reference tool for cardiology trainees, general cardiologists and acute medicine physicians, this second edition of Adult Congenital Heart Disease has been fully reviewed to include new guidelines and increased illustations to aid understanding. Brand new chapters on epidemiology, heart failure, device therapy and transition and transfer of care ensure that Adult Congenital Heart Disease remains the definitive guide to supporting clinicians throughout all aspects of the patient's care.

In haar bykans 35 jaar het Shéri Brynard merkwaardige mylpale bereik ten spyte van die feit dat sy as baba met Trisomie-21-Downsindroom gediagnoseer is. Sy vertel hoe die liefde en aanvaarding van diegene naaste aan haar, veral haar ma, Susette, haar gevorm het.

Sy deel met die leser die opwindende avonture op haar pad, die seerkry, vrees, en verliese (die grootste hiervan die dood van haar pa, Jerry), asook die werklikhede waarmee sy as ’n volwassene met Downsindroom gekonfronteer word. Dan gesels haar ma oor ’n lewe in die skaduwee van ’n kind met Downsindroom. Sy deel openhartig haar geloofstryd toe sy gehoor het haar kind het Downsindroom en haar en haar dogter se reis die onbekende in. Shéri – Nes ek is is ’n boek wat grense verskuif, want soos Shéri tereg vra: “Wat is nou eintlik normaal?”

Dié boek herinner die leser juis dat ons as kinders van God elkeen ons volle potensiaal kan bereik, ongeag die uitdagings waarvoor ons te staan kom.

This book presents the latest developments in medicine and biology. Chapters include research on trends in the birth prevalence of boys with isolated hypospadias and undescended testis in Hungary during the last 50 years; alleviating premenstrual syndrome (PMS) symptoms using a natural factor; neutralization-enhancing RF antibodies; advances in the diagnosis, assessment, management and outcome of Takayasu's arteritis; macronutrients and premenstrual syndrome; pressurised intraperitoneal aerosol chemotherapy (PIPAC); the control of MAO expression; and what we know about iMAO.

The Bedside Dysmorphologist is a thoughtful clinical guide to common-and often quite subtle-congenital malformations in clinical exam. Organized by area of the body, each section provides the user with a concise, illustrated roadmap for assessment and differential diagnosis of highly nuanced elements of dysmorphology. Narrated by a world-class clinical geneticist and enriched with a library of original photos, it provides a safety net for physicians encountering abnormalities in physical exam. No other book in the market sets out to assist the pediatrician and other non-geneticists in how to interpret the clinical signs in syndromology and to lead the clinician to sensible conclusions, both in terms of clinical management and in terms of initiating of appropriate investigation. The Bedside Dysmorphologist distills a lifetime of clinical experience, nuance, and variation into a manageable volume, one that will instill confidence in clinicians and guide them through this arcane area of medicine.

Arteriovenous malformations (AVM) represent some of the most complex and challenging pathologies for the modern physician to properly diagnose and manage. In this comprehensive guide, we detail the natural history, diagnosis and management of AVMs. The first eight chapters are dedicated to brain AVMs. Chapter 1 describes the natural history of brain AVMs, the understanding of which is crucial to deciphering the relative risks and benefits of AVM treatment. Chapter 2 focuses on the surgical treatment of brain AVMs. Chapters 3 and 4 delineate the role of endovascular embolization in the management of brain AVMs. Chapter 5 analyzes the outcomes of stereotactic radiosurgery for Spetzler-Martin grade III AVMs, which are the most heterogeneous subgroup of AVMs. Chapter 6 describes the role of stereotactic radiosurgery for large brain AVMs, which are notoriously difficult to safely and effectively treat by any means. Chapter 7 focuses on heavily charged particle beam radiosurgery for brain AVMs. Chapter 8 puts it all together by analyzing the relationships and interactions among the different treatment modalities for brain AVMs; when utilized synergistically, the morbidity of each therapy is minimized while its maximum benefit is extracted. The last two chapters are dedicated to Osler-Weber-Rendu syndrome, also known as hereditary hemorrhagic telangiectasia (HHT). Chapter 9 describes the genetics, pathogenesis, and management of HHT, with a focus on the diagnosis of pulmonary AVMs. Chapter 10 evaluates the role of endovascular intervention in the treatment of pulmonary AVMs.

This book presents the latest developments in medicine and biology. Chapters include research on environmental risk factors for diabetic nephropathy; pre-endoscopic management of patients with hematemesis; the benefits of early diagnosis, halo fixation and/or ventral stabilization of dens-fractures in correspondence to age of the patient and fracture type; a discussion on how and to which extent heart rate variability (HRV) is acutely changed in diabetic ketoacidosis (DKA) or in hyperglycemic hyperosmolar syndrome (HHS); an evaluation of the anatomical, refractive and functional results of an innovative technique of deep anterior lamellar keratoplasty; the physical, emotional and quality of life aspects of patients with Cervical Dystonia; the current issues in medical literature regarding androgen use during menopause; an overall report on the benefits and limitations of human milk oligosaccharides (HMOs) mass spectrometry (MS) analysis; the classification methods of the X-ray cerebral angiograms; and the diagnosis and management of intraoperatively necrotizing fasciitis of the breast.

In this book, the authors present topical research in the study of the causes, types and treatment options for dysplasia. Topics discussed include colonic polyps and hereditary polyposis syndromes; developmental hip dysplasia; the causes and treatment options for bone dysplasia; a discussion on whether elevated intracellular chloride causes epilepsy in cortical dysplasia and dysplasia in ulcerative colitis.

A medical handbook for doctors and students in urban and rural areas in developing countries, especially in Africa; covering genetics and genetic disorders, containing approximately 240 colour photographs, and suitable for reference in the hospital ward or clinic.

Authored by two of the world's preeminent authorities in its field, this new book represents today's best single source of guidance on spinal diagnostic imaging! It presents more details for each diagnosis more representative images more case data and more current references than any other reference tool. At the same time, its user-friendly format lets readers access all of this information remarkably quickly!

Neurogenetics is intended for any physician or scientist who manages patients with inherited diseases of the nervous system. It presents the clinical phenotypes of the most commonly inherited neurologic diseases, and their molecular pathogenesis, followed by a description of the appropriate
tests to be used in diagnosis. Two introductory chapters familiarize the nongeneticist with medical genetic terminology and molecular genetic techniques useful in the analysis of genetic disease and genetic testing. Subsequent chapters examine major neurologic disorders caused by single defects,
as well as disease phenotypes such as Alzheimer disease or amyotrophic lateral sclerosis which may be caused by defects in single genes, but may also be seen as sporadic diseases. The genetic components of other common neurologic disorders, such as epilepsy, multiple sclerosis, migraine, and stroke
are all covered in detail. The final chapter discusses genetic counseling of symptomatic and pre-symptomatic individuals. Throughout, chapters discuss genotype/phenotype correlations and, where appropriate, animal models for inherited human neurologic diseases. Several chapters are devoted to
recently discovered diseases caused by unstable DNA repeats. Special emphasis is placed on conveying how DNA testing can be applied to the daily practice of geneticists and neurologists.

Drs. Bharati and Lev share the knowledge they've accumulated through the study of the pathology of congenital heart disease as seen in this century. Their detailed studies of over 6,300 congenitally malformed hearts give them a unique and comprehensive perspective on this topic. This monograph reports the results of their analyses and includes 2,700 excellent photographs. This book will be of significant interest to those working with or studying about congenital heart disease. This book will help clinicians and surgeons to diagnose congenital heart disease. Likewise, it offers protocol for correcting the lesions, nonsurgically and surgically. Concurrently, the text offers fertile ground for selective basic science specialities: genetics, immunology and molecular biology. Epidemiologists, statisticians and computer experts will want to review this book

Incisional hernia (IH) represents a postoperative abnormal orifice or weakness in the abdominal wall through which normally contained viscera protrude beneath the skin. This book examines the risk factors, prevention methods, and management options for incisional hernias. It also provides a biomolecular basis of IH; discusses the loss of abdominal domain; examines preoperative techniques for the management of giant hernias; studies intraabdominal pressure modification in "component separation" techniques for the repair of incisional hernias; reviews the incidence, and repair of IH after abdominal organ transplantation; and finally, provides an overview of the diagnostic, prognostic and therapeutic implications of right sided congenital diaphragmatic hernias (CDH).

Hypospadias is recognised as one the most common congenital malformations in male newborns, resulting in an abnormal opening of urethral meatus. It is regarded as a multifactorial disorder in which interactions between genetics, maternal and environmental factors lead to hypoplastic development of the ventral side of the penis, either dependently or in an interaction with other factors. This book discusses the risk factors of hypospadias. It also examines the epidemiology and surgical outcomes of hypospadias.

Prader-Willi syndrome (PWS) is a rare, genetic, multisystemic disorder, characterised by short stature, muscular hypotonia, intellectual disability, behavioural and psychological problems and frequently hypogonadism and impaired growth hormone secretion. PWS arises due to loss of function of paternally-expressed, imprinted genes from chromosome region 15q11-q13. In new-borns and infants, the syndrome presents symptoms of muscular hypotonia and nutritional difficulties, which from the age of approximately two years is replaced by hyperphagia often leading to severe obesity. With increasing age the behavioural and psychological problems increase while the muscular hypotonia improves. During the last decades the knowledge of different aspects of PWS has increased and accordingly the treatment possibilities. However, no specific treatment exists and thus problems continue lifelong. Taking care of PWS patients is therefore a demanding task and necessitates a solid knowledge and understanding of the disorder as well as a multidisciplinary approach. This book will provide professionals taking care of patients with PWS with updated and comprehensive information and advise. The content is built up logically and it will be easy to navigate between the chapters, which cover all clinically relevant issues, genetics, signs and symptoms in children and adults, treatment, words from patients and parents, supporting organisations, and from a parent to a PWS patient.

* Confidently devise a safe and successful plan for the pump run for patients undergoing surgery for congenital heart disease. This practical guide for perfusionists and other members of the cardiac surgical team provides information on the devices, technology and techniques required for successful bypass of patients with congenital heart defects * A practical, spiral-bound, go-to reference designed to answer the most frequently-posed questions about bypass for CHD, the surgical treatment of which is often complicated * Focuses on the latest technology and techniques and provides clear, matter-of-fact guidance based on specific diagnoses * Written by a seasoned perfusionist who is co-chief and educator at one of the world s leading children s hospitals * Spiral binding allows the book to be laid flat for easy referral in the operating room * A notes section following each diagnosis enables readers to add institution and/or surgeon-specific information to tailor a bypass plan for each CHD lesion

Shéri Brynard has reached many remarkable milestones, although she was born with Down Syndrome. She talks about how love and acceptance from her family and friends formed her. She tells of her adventures, her pain and the harsh realities she has to face as an adult with Down Syndrome. Her mother tells the tale of living in Shéri’s shadow, speaking without holding back about her crisis of faith when she heard that her daughter had Down Syndrome. A touching tale.

Physicians often have only partial knowledge of common congenital hand and upper extremity anomalies and their associated syndromes. Surgeons typically find these syndromes to be abstruse and congenital hand conditions can represent an enigma even to pediatric geneticists. This book is designed to serve as a practical, up-to-date reference that will enable practitioners and students in a variety of disciplines to easily recognize the most common congenital upper extremity anomalies and syndromes. In total, 37 congenital upper extremity anomalies and 124 syndromes are discussed. Salient and common presenting features are described in detail and illustrated with the aid of high-quality digital color photographs whenever possible. In addition, relevant background information is included on such aspects as prevalence, etiology, pathogenesis and findings elsewhere in the body.

This book on Hirschsprung's disease (HD) contains a complete update on the various aspects of this disease. It is the collaboration of an international group of paediatric surgeons well-known in their fields who are experts in this pathology and of other prestigious professionals -- neurobiologists, physiologists, geneticists, paediatricians, and histopathologists. Over the course of 28 chapters, these authors describe the latest advances in the diagnosis and treatment of this pathology. The first part is an update of the anorectal physiology, pathophysiology, genetics, and histopathology. The second part deals with the clinical manifestations and diagnosis in the new-born, with especial reference to manometric diagnosis during the neonatal period and to the morphological and radiological study. Other important chapters are devoted to differential diagnosis, preoperative care, indications for ostomy, and preparing the child for the pull-through. The third part describes the various classical surgical options (Swenson, Duhamel, Soave, Rehbein), and the new methods using laparoscopy and transanal pull-through, which have been the major breakthrough in the treatment of this condition. Total colonic aganglionosis and the critical review of the different surgical techniques occupy two magisterial chapters. The fourth part comprises an extensive exposition of enterocolitis in HD, the long-term results following surgery, other variants of HD, and two novel chapters in treatises on this disease (intestinal transplants and nutrition). In the Annex, parents of children with this disease describe their experience. The book ends with a final chapter devoted to informed consent. This book will be an invaluable reference for paediatric surgeons and paediatricians and gastroenterologists, and has a special interest for parents of children with Hirschsprung's disease.

During the last three decades, many laboratories worldwide have dedicated their research activities to understanding the roles of the cerebellum in motor control, cognitive processes and the biology of mental processes, behavioral symptoms and emotion. These advances have been associated with discoveries of new clinical disorders, in particular in the field of genetic ataxias, and the growing number of diseases presents a source of difficulty for clinicians during daily practice. This practical guide summarizes and evaluates current knowledge in the field of cerebellar disorders. Encompassing details of both common and uncommon cerebellar ataxias, including vascular, immune, neoplastic, infectious, traumatic, toxic and inherited disorders, this book will assist clinicians in the diagnosis and management of the full spectrum of cerebellar ataxias encountered in daily practice. Essential reading for clinicians, including general practitioners, neurologists, pediatricians, radiologists, psychiatrists and neuropsychologists, this will also prove a valuable tool for students, trainees and researchers.

Recent advances in genetic methodology are providing important aetiological and developmental information to the growing literature on Attention Deficit Hyperactivity Disorder (ADHD) and related conditions. Attention, Genes and ADHD is the first book to review and integrate both behaviour-genetic and molecular-genetic advances in this area. It brings together international researchers to show how modern techniques may be applied to the investigation of ADHD, and reviews current findings in the field of ADHD and related conditions.
The book looks at the application of behaviour genetic approaches to twin studies, and reviews diagnostic to ADHD, the relationships between reading, spelling and ADHD, and family and genetic influences on speech and speech and language.
Chapters go on to consider the overlaps between ADHD, Oppositional Defiant Disorder and Conduct Disorder and to explore the environmental and genetic influences among these disorders. The neurobiological and genetic relationship between ADHD and Tourette's Disorder is also examined. The book reviews recent advances in molecular genetics - in particular a discussion of Fragile X as a model for a single single gene effects on ADHD, and the application of genetic methods and approaches to the study of candidate genes. Finally, the implications for education and intervention are discussed, and current and future roles of gentic studies of ADHD are explored, as well as implications of the sequencing of the human genome for child psychiatry.

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