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Books > Medicine > Clinical & internal medicine > Diseases & disorders > Congenital diseases & disorders
Dieses Buch hilft niedergelassenen Gynakologen sowie klinisch tatigen AErzten im Umgang mit den kritischen Ereignissen in der Geburtshilfe. Ausgehend von der Darstellung moeglicher anatomischer, genetischer, endokrinologischer und/oder immunologischer Grundlagen und Ursachen gehen die Autoren praxisnah auf die diagnostischen und therapeutischen Moeglichkeiten ein. Auch erfahrt der Leser welche praventiven Massnahmen und Ansatze zur Vermeidung ergriffen werden koennen. Neben klinisch-medizinischem Wissen werden auch der psychologische Umgang und die Betreuung von betroffenen Frauen thematisiert.
A comprehensive work written by driving forces in the field,
defining the
In this book, Dr. Jesse Edwards shares his vast experience in a
discussion This book will serve as a unique and useful reference to broaden
the
Molecular Chaperones in Human Disorders, Volume 114 in the Advances in Protein Chemistry and Structural Biology series, provides an overview of current developments in mechanisms underlying DNA repair and their involvement in maintaining chromatin repair, the balance between chromosomal repair pathways, tumorigenesis, immune signaling and infection-induced inflammation. Chapters in this new release cover Functional principles and regulation of molecular chaperones, Chaperones and retinal disorders, Protein misfolding and degradation in genetic diseases, Chaperone dysfunction in hereditary myopathic diseases, Diseases caused by functional disorder of molecular chaperones residing in the endoplasmic reticulum, and many other timely topics.
The Genetic Analysis of Complex Disease provides a comprehensive introduction to the various strategies, designs, and methods of analysis for the study of human complex genetic disease. Chapters present clear and easily referenced overviews of the broad range of considerations involved in genetic analysis of human complex genetic disease. This updated third edition includes a new chapter on next-generation sequencing, copy-number variants and epigenetic analysis, increased emphasis on bioinformatics tools, and a new expanded chapter on complex genetic interactions.
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.
Von Willebrand Disease: Basic and Clinical Aspects provides an insight into all aspects of the condition. Since its discovery, von Willebrand disease has been extensively studied and the causative factor deficiency, the understanding of the condition and its treatment has greatly improved. This book summarizes recent research and will help to optimize the management of patients with von Willebrand disease. This valuable book describes the important and complex role of von Willebrand factor in hemostasis and thrombosis. In addition to the current understanding of its molecular biology, this book gives particular focus to the association between genetic variants of von Willebrand factor and different von Willebrand disease phenotypes. It also reviews the important area of the obstetric and gynecological manifestations of von Willebrand disease, as well as the treatment of acute bleeding. Written by an international team of contributors it describes the progress in, and difficulties of diagnosing phenotypes and genotypes. Molecular diagnosis of type 1, type 2 and its subgroups, and type 3 von Willebrand disease are presented as well as discussion of the potential future role of gene therapy. Von Willebrand Disease: Basic and Clinical Aspects is a valuable resource for hematologists in practice and in training, and specialists in thrombosis and hemostasis.
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 gauge 3ml lamination with sealed edges and two metal eyelets for hanging makes chart highly durable. Write-on/wipe-off with dry erase marker (not included).
Down syndrome is a genetic condition which causes varying degrees
of learning disability as well as other health problems. Nearly one
baby in every 1000 born in the UK has the condition. Parents are
often frightened and confused by the birth of a baby with Down
syndrome, and they need reassurance as well as up-to-date
information regarding the condition.
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.
Fragile X syndrome is one of the main causes of child developmental delay and autism spectrum disorders. A premutated form of the same gene is also the basis for neurological disabilities in adults. This book breaks down the complex science of this genetic disorder and provides the facts and advice that every bewildered parent or professional needs to support individuals with Fragile X syndrome. This is a straightforward introduction that clearly explains the condition on both a scientific and practical level. With sections on diagnosis, symptoms and treatment, as well as discussions of various emotional and behavioural considerations, this guide covers all aspects of Fragile X syndrome, its implications, and the possibilities open to families affected by it. It demonstrates how, with the right therapies, progress can be made and emphasises how music can be used effectively to promote communication, interaction, fine motor skills and responsiveness in children with the condition. This is an essential reference tool for families of individuals with Fragile X syndrome, as well as therapists and healthcare professionals who are unfamiliar with the condition and are looking to find out more.
Praxisnahe Anleitung zur optimalen Beratung und Betreuung von Kinderwunschpaaren, dafur steht das in dieser 3. Auflage erweiterte Autorenteam aus ausgewiesenen Spezialisten. Durchgehend aktualisiert fuhrt das Buch seine Leser durch alle relevanten Themen und alles Wissenswerte zur Kinderwunschsprechstunde: - Grundlagen zu Physiologie und Familienplanung - Darstellung verschiedener Gegebenheiten in Fallbeispielen - Konkrete Praxistipps zu Beratung, Diagnostik und Therapie - Herangehensweise an unterschiedliche Ausgangssituationen Neue Kapitel erganzen die bewahrte Zusammenstellung der Inhalte: - Fertilitatsprophylaxe bei malignen Erkrankungen - Rechtliche Aspekte der Kinderwunschbehandlung
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).
Genetic testing and genome sequencing have opened up the possibility to clinicians and families to treat diseases, syndromes, and malformations earlier and provide therapeutic interventions.The guest editors seek to provide a basic overview of the topic for the neonatologist/perinatologist. Articles addres dysmorphology, syndromes in the infant, skeletal dysplasias, limb malformations, craniofacial anomolies, GI/liver disease, disorders of sexual develoment, brain defects, inborn errors of metabolism, and congenital heart disease.
Noonan Syndrome: Characteristics and Interventions provides an in-depth analysis on this disorder that pediatric endocrinologists and primary care clinicians can use to make sure they provide affected patients with an updated model of care and appropriate treatment. The book examines recent advances in understanding and treating short stature in Noonan Syndrome, along with the latest progress in growth hormone-dependent signaling pathways involved in short stature, one of the most frequent clinical manifestations. Chapters also address how patients with Noonan Syndrome undergo more than average surgical procedures and have a great bleeding risk. This must have reference for pediatric endocrinologists and practicing physicians will give them all the information they need on the topic.
This atlas provides a practical guide to the diagnosis of congenital heart disease using echocardiography in both adults and children. A plethora of high-quality echocardiography images provide practical examples of how to diagnose a range of conditions correctly, including aortic stenosis, tricuspid atresia, coronary artery fistula and hypoplastic left heart syndrome. Atlas of Echocardiography in Pediatrics and Congenital Heart Diseases describes the diagnostic management of a range of congenital heart diseases successfully in both adults and children. Therefore it provides a valuable resource for both practicing cardiologists who regularly treat these patients and for trainees looking to develop their diagnostic skills using echocardiography.
Congenital spine and spinal cord malformations; Congenital brain malformations (except cortical malformations); Malformations of cortical development; Congenital cystic neck lesions; A simplified approach to pediatric vascular malformations of the head and neck; Congenital face, maxillofacial anomalies; Congenital arterial and venous anomalies of brain, spine and neck; Fetal neuroimaging; Temporal bone malformations; Pediatric orbit; Neurosurgeon's perspective to congenital brain and spine malformations
This atlas provides a practical guide to the diagnosis of congenital heart disease using echocardiography in both adults and children. A plethora of high-quality echocardiography images provide practical examples of how to diagnose a range of conditions correctly, including aortic stenosis, tricuspid atresia, coronary artery fistula and hypoplastic left heart syndrome. Atlas of Echocardiography in Pediatrics and Congenital Heart Diseases describes the diagnostic management of a range of congenital heart diseases successfully in both adults and children. Therefore it provides a valuable resource for both practicing cardiologists who regularly treat these patients and for trainees looking to develop their diagnostic skills using echocardiography.
This issue describes in detail the most current thinking on the way genes affect and determine sleep patterns, behaviors, disorders and needs. ? Sleep researchers continue to study genetic markers that may someday lead to a personalized approach to treatment of sleep disorders. The genetics of restless legs syndrome, narcolepsy, circadian rhythm disorders, obstructive sleep apnea, parasomnias, and insomnia are discussed. A solid understanding of the role genetics and molecular biology play in sleep will aid clinicians in diagnosing and treating these disorders, as well as advising their patients.
This issue serves as a timely review of both the genetic and genomic factors resulting in a predisposition to human cancer.? There is now strong evidence to support the use of genetic testing for cancer predisposition in the practice of preventive medicine, and at the same time, there is emerging new literature defining the role of genomic approaches to assessment of cancer predisposition.? Articles address predisposition syndromes in the areas of breast cancer, lower GI cancer, genitourinary cancer, pediatric cancer, endocrine cancer, and hematologic malignancy.
Can you imagine not being able to speak or communicate? The silence, the loneliness, the pain. But, inside you disappear to magical places, and even meet your best friend there. However, most of the time you remain imprisoned within the isolation. Waiting, longing, hoping. Until someone realises your potential and discovers your key, so your unlocking can begin. Now you are free, flying like a wild bird in the open sky. A voice for the voiceless. Jonathan Bryan has severe cerebral palsy, a condition that makes him incapable of voluntary movement or speech. He was locked inside his own mind, aware of the outside world but unable to fully communicate with it until he found a way by using his eyes to laboriously choose individual letters, and through this make his thoughts known. In Eye can Write, we read of his intense passion for life, his mischievous sense of fun, his hopes, his fears and what it's like to be him. This is a powerful book from an incredible young writer whose writing ability defies age or physical disability - a truly inspirational figure. Foreword by Sir Michael Morpurgo A portion of the proceeds from the sale of this book will be donated to Jonathan Bryan's charity, Teach Us Too. http://www.teachustoo.org.uk/
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.
It is the year 2019, and fear looms in on the world. A deadly virus, one with the ability and venom to wipe away half of the world's 7.8 billion people, or even extinct humanity forever, has emerged. And now, mankind must summon all the strength, knowledge, experiences, science, technology, resilience, courage, and everything else that they have at their disposal, to combat this dark, mysterious, dangerous disease and all its entities. World War III could just end up being between man and the Coronavirus Disease.
This book is an an up-to-date survey and summary of present knowledge and future expectations regarding the environmental causes of congenital malformations in human beings, beginning with the earliest discoveries of the 20th century up to the latest ideas and problems at its end, presents views and comments on the progress made over the century in understanding human prenatal maldevelopment. |
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