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Books > Medicine > Clinical & internal medicine > Diseases & disorders > Congenital diseases & disorders

A Dictionary of Congenital Malformations and Disorders (Hardcover): J. Gibson, Oliverira Potparic, O. Potparic A Dictionary of Congenital Malformations and Disorders (Hardcover)
J. Gibson, Oliverira Potparic, O. Potparic
R5,094 Discovery Miles 50 940 Ships in 12 - 17 working days

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, deformities of the humerus, radius and ulna, short and broad hands, hypoplastic maxilla, and mental retardation.

Ultrasound of Congenital Fetal Anomalies - Differential Diagnosis and Prognostic Indicators, Second Edition (Hardcover, 2nd... Ultrasound of Congenital Fetal Anomalies - Differential Diagnosis and Prognostic Indicators, Second Edition (Hardcover, 2nd edition)
Dario Paladini, Paolo Volpe
R8,771 Discovery Miles 87 710 Ships in 9 - 15 working days

The most frequently asked questions that confront the fetal medicine trainee/expert on a daily basis are "Is the finding real or merely an artifact?" and "Is the diagnosis correct?". However, to be able to find the description of an abnormal ultrasound finding in a textbook, one generally has to search by the definite diagnosis, which has not been done as yet. This uneasy feeling was the first factor that directed the layout of Ultrasound of Congenital Fetal Anomalies: Differential Diagnosis and Prognostic Indicators, Second Edition. Copiously illustrated, the book displays fetal anomalies by scanning view and descriptions of all major ultrasound planes, detailing what can be considered a normal view and what cannot. See What's New in the Second Edition: Early detection of fetal anomalies (1214 weeks) Ultrasound in fetal infections and in twins The nuchal translucency issue, the newest intracranial translucency as well as the range of congenital anomalies detectable at this gestational age Expanded coverage of heart anomalies, including arrhythmias and early fetal echocardiography The author's mission continues to be to provide guidance on how to quickly recognize and diagnose congenital fetal anomalies, beginning at the beginning with ultrasound sigh all the way through to final diagnosis.

Gentle on My Mind - In Sickness and in Health with Glen Campbell (Paperback): Kim Campbell Gentle on My Mind - In Sickness and in Health with Glen Campbell (Paperback)
Kim Campbell
R291 Discovery Miles 2 910 Ships in 12 - 17 working days

The page-turning, never-before-told story of Kim Campbell's roller-coaster thirty-four-year marriage to music legend Glen Campbell, including how Kim helped Glen finally conquer his addictions only to face their greatest challenge when he was diagnosed with Alzheimer's disease. Kim Campbell was a fresh-faced twenty-two-year-old dancer at Radio City Music Hall when a friend introduced her to Glen Campbell, the chart-topping, Grammy-winning, Oscar-nominated entertainer. The two performers from small Southern towns quickly fell in love, a bond that produced a thirty-four-year marriage and three children. In Gentle on My Mind, Kim tells the complete, no-holds-barred story of their relationship, recounting the highest of highs-award shows, acclaimed performances, the birth of their children, encounters with Mick Fleetwood, Waylon Jennings, Alan Jackson, Alice Cooper, Jane Seymour, and others-and the lowest of lows, including battles with alcohol and drug addiction and, finally, Glen's diagnosis, decline, and death from Alzheimer's. With extraordinary candor, astonishing bravery, and a lively sense of humor, Kim reveals the whole truth of life with an entertainment giant and of caring for and loving him amid the extraordinary challenge of Alzheimer's disease. This is a remarkable account of enduring love, quiet strength, and never-faltering faith.

Oxford Handbook of Endocrinology & Diabetes (Paperback, 4th Revised edition): Katharine Owen, Helen Turner, John Wass Oxford Handbook of Endocrinology & Diabetes (Paperback, 4th Revised edition)
Katharine Owen, Helen Turner, John Wass
R924 R837 Discovery Miles 8 370 Save R87 (9%) Ships in 7 - 11 working days

The indispensable guide to all aspects of clinical care, the Oxford Handbook of Endocrinology and Diabetes has been fully updated for its fourth edition, providing comprehensive coverage of both disciplines in a practical and concise format. Featuring new chapters on transition in endocrinology and diabetes, practical nursing considerations, and the genetics of endocrinology, and expanded sections on inherited endocrine syndromes and MEN, it retains the clear organisation and layout for ease of reference as the previous edition over a broader range of topics. Combining authority, relevance, and reliability, this title includes new therapies and guidelines alongside 'clinical pearl' and 'tricky situation' boxes to aide readers in rare or complicated situations. This is the must-have guide for all trainees and specialist nurses in endocrinology and diabetes.

Oxford Handbook of Endocrinology and Diabetes (Paperback, 4th Revised edition): Katharine Owen, Helen Turner, John Wass Oxford Handbook of Endocrinology and Diabetes (Paperback, 4th Revised edition)
Katharine Owen, Helen Turner, John Wass
R1,167 Discovery Miles 11 670 Ships in 9 - 15 working days

The indispensable guide to all aspects of clinical care, the Oxford Handbook of Endocrinology and Diabetes has been fully updated for its fourth edition, providing comprehensive coverage of both disciplines in a practical and concise format. Featuring new chapters on transition in endocrinology and diabetes, practical nursing considerations, and the genetics of endocrinology, and expanded sections on inherited endocrine syndromes and MEN, it retains the clear organisation and layout for ease of reference as the previous edition over a broader range of topics. Combining authority, relevance, and reliability, this title includes new therapies and guidelines alongside 'clinical pearl' and 'tricky situation' boxes to aide readers in rare or complicated situations. This is the must-have guide for all trainees and specialist nurses in endocrinology and diabetes.

Handbook of Cystic Fibrosis (Paperback, 1st ed. 2016): Amy G. Filbrun, Thomas Lahiri, Clement L Ren Handbook of Cystic Fibrosis (Paperback, 1st ed. 2016)
Amy G. Filbrun, Thomas Lahiri, Clement L Ren
R1,405 R899 Discovery Miles 8 990 Save R506 (36%) Ships in 9 - 15 working days

This concise manual provides clinicians and other related health care professionals with an essential reference tool to the background of cystic fibrosis, and the management and treatment of this disease. The latest guidelines are reviewed and current and emerging treatments are discussed in the latter chapters. Cystic fibrosis is an inherited condition where a mutation in the gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) causes loss of function. The dysfunction of CFTR results in the production of thick mucus in the lungs and digestive tract, causing pulmonary and gastrointestinal manifestations. The incidence of cystic fibrosis in Europe and the US ranges between 1 in 2,000 and 1 in 25,000.

Congenital Hand Anomalies and Associated Syndromes (Hardcover, 2014 ed.): Ghazi M. Rayan, Joseph Upton III Congenital Hand Anomalies and Associated Syndromes (Hardcover, 2014 ed.)
Ghazi M. Rayan, Joseph Upton III
R5,855 Discovery Miles 58 550 Ships in 10 - 15 working days

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.

Arteriovenous Malformations - A Comprehensive Guide to Natural History, Diagnosis & Management (Hardcover): Dale Ding Arteriovenous Malformations - A Comprehensive Guide to Natural History, Diagnosis & Management (Hardcover)
Dale Ding
R5,726 Discovery Miles 57 260 Ships in 12 - 17 working days

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.

Endoscopic Craniosynostosis Surgery - An Illustrated Guide to Endoscopic Techniques (Hardcover): David F Jimenez Endoscopic Craniosynostosis Surgery - An Illustrated Guide to Endoscopic Techniques (Hardcover)
David F Jimenez
R4,067 Discovery Miles 40 670 Ships in 12 - 17 working days

Destined to be the definitive reference in this complex surgical area, Endoscopic Craniosynostosis Surgery is the first single resource to offer complete coverage of techniques, outcomes, complications, and results when treating patients with craniosynostosis endoscopically. Dr. David F. Jimenez, a pioneer in the field who has developed minimally invasive endoscopic surgeries to treat very young infants with this condition, provides all appropriate data and detailed guidance on every aspect of the management of craniosynostosis using endoscopic techniques. Covers the surgical management of every type of single suture synostosis as well as multiple and complex synostosis. Presents surgical techniques in depth, with a complete review of short- and long-term outcomes and results. Provides detailed information on patient anesthesia and how to set up the operating room for surgery. Includes detailed descriptions of helmets and their management. Features hundreds of radiographs, clinical photos, and procedural illustrations, as well as procedural videos. Discusses complication avoidance, provides surgical pearls throughout, and supplies patient information online. Enhanced eBook version included with purchase. Your enhanced eBook allows you to access bonus images plus all of the text, figures, and references from the book on a variety of devices.

Living with Hereditary Cancer Risk - What You and Your Family Need to Know (Paperback): Kathy Steligo, Sue Friedman, Allison W.... Living with Hereditary Cancer Risk - What You and Your Family Need to Know (Paperback)
Kathy Steligo, Sue Friedman, Allison W. Kurian; Foreword by Matthew Boland Yurgelun
R664 Discovery Miles 6 640 Ships in 12 - 17 working days

The most comprehensive guide available on hereditary cancers, from understanding risk, prevention, and genetic counseling and testing to treatment, quality of life, and more. Up to 10 percent of cancers are caused by inherited mutations in specific genes. Finding out that you or your loved ones may be at increased risk of developing cancer because of a genetic mutation raises a lot of questions: Is cancer inevitable? Is there anything I should do differently in my life? Will my children also be at higher risk of cancer? Should I have preemptive treatments or surgery? This comprehensive guide provides answers to these questions and more. Written by three passionate patient advocates, this book is a compilation of the trusted information and support provided for more than two decades by Facing Our Risk of Cancer Empowered (FORCE), the de facto voice of the hereditary cancer community. Combining the latest scientific research with national guidelines, expert advice, and compelling patient stories, the book offers previvors (those who have a mutation but have never been diagnosed), survivors, and their families the guidance they need to face the unique physical and emotional challenges of living in a high-risk body. An ideal resource for genetic counselors, physicians, nurses, advocates, and others who support and care for the hereditary cancer community, Living with Hereditary Cancer Risk also provides coverage of * signs of inherited cancer risk in a family; * the value of genetic counseling and testing; * mutations in BRCA, Lynch Syndrome, and other genes that elevate cancer risk; * risk-reducing strategies; * traditional treatments and newer personalized approaches, including immunotherapies and PARP inhibitors; * nationally recommended guidelines for prevention, early detection, and treatment; * insurance coverage and discrimination protections; and * coping with sexual health, fertility, menopause, and other quality of life issues.

Impact of Genetic Hearing Impairment (Paperback, New): L. Jones Impact of Genetic Hearing Impairment (Paperback, New)
L. Jones
R2,436 Discovery Miles 24 360 Ships in 12 - 17 working days

This book addresses the impact of genetic deafness/hearing impairment on people' s lives and those around them. It includes the perspectives of those who are deaf or hard of hearing as well as those working in the field. Professional topics include genetic counselling, social science, psychology, social work and - within medicine - audiological and ENT medical and audiological paediatrics. These practitioners are both hearing and hearing impaired.

The impact of deafness on children, those of working age and elderly people is discussed highlighting the specific effect of genetic factors. In particular there are chapters on deafblindness and otosclerosis and NF2 (a potentially lethal condition). The Who definitions and ICF are used as a framework for considering the effect on people' s lives of impairment and their participation in society.

This provides a bridge between the medical and social models of disability. Contributors write from both their professional and personal experience in order to try and address some of the issues raised by the real impact of genetic deafness on everyday life and how these can best be tackled by those working in the field.

Ingredients - The Strange Chemistry of Plants, Poisons and Processed Foods (Paperback): George Zaidan Ingredients - The Strange Chemistry of Plants, Poisons and Processed Foods (Paperback)
George Zaidan 1
R359 R311 Discovery Miles 3 110 Save R48 (13%) Ships in 12 - 17 working days

Cheese puffs. Coffee. Sunscreen. Vapes. Hand sanitiser. George Zaidan reveals the weird science behind everyday items that may or may not kill you, depending on whom you ask. If you want easy answers, this book is not for you. But if you're curious which health studies to trust, what dense scientific jargon really means, and how to make better choices when it comes to food and health - dive right in! Zaidan makes chemistry more fun than potions class as he reveals exactly what science can (and can't) tell us about the packaged ingredients we buy in the supermarket. He demystifies the ingredients of life and death - and explains how we know whether something is good or bad for you - in exquisite, hilarious detail at breakneck speed. PRAISE FOR INGREDIENTS 'If you ever thought that chemistry might be really interesting (it is), but your eyes glazed over in high school chem class, this is the book for you. George Zaidan will keep you laughing out loud as he shares the wonders of our most useful, practical science, with brilliant analogies that even an 11-year old can understand.' Daniel J. Levitin, author of Successful Aging and This is Your Brain on Music 'If you crossed Bill Nye with Stephen Colbert, you'd get George Zaidan. Ingredients is a masterful piece of science writing.' Daniel H. Pink, author of When and Drive 'Ingredients lifts the film from our eyes with humour and reassurance.' Hank Green, author of An Absolutely Remarkable Thing 'At last, a book on nutrition that tries to make you understand how little we know instead of offering blanket prognostications. If instead of a simple solution, you want a guide to how to think about health, this is it.' Zach and Kelly Weinersmith, New York Times best-selling authors of Soonish 'Ingredients, is everything that should lead you to expect: funny, edgy, fascinating, dismaying, reassuring, and overall just incredibly smart.' Deborah Blum, Pulitzer prize-winning author of The Poison Squad 'You should buy Ingredients because it teaches you how to think better - like a smart, informed, and wickedly funny scientist.' Sam Kean, author of The Disappearing Spoon 'Omfg this book is FABULOUS! It's hilarious, insightful, sassy, and reassuring. A delightful roller-coaster of science communication.' Kallie Moore, Co-host of PBS Eons

Living with Hereditary Cancer Risk - What You and Your Family Need to Know (Hardcover): Kathy Steligo, Sue Friedman, Allison W.... Living with Hereditary Cancer Risk - What You and Your Family Need to Know (Hardcover)
Kathy Steligo, Sue Friedman, Allison W. Kurian; Foreword by Matthew Boland Yurgelun
R1,176 Discovery Miles 11 760 Ships in 12 - 17 working days

The most comprehensive guide available on hereditary cancers, from understanding risk, prevention, and genetic counseling and testing to treatment, quality of life, and more. Up to 10 percent of cancers are caused by inherited mutations in specific genes. Finding out that you or your loved ones may be at increased risk of developing cancer because of a genetic mutation raises a lot of questions: Is cancer inevitable? Is there anything I should do differently in my life? Will my children also be at higher risk of cancer? Should I have preemptive treatments or surgery? This comprehensive guide provides answers to these questions and more. Written by three passionate patient advocates, this book is a compilation of the trusted information and support provided for more than two decades by Facing Our Risk of Cancer Empowered (FORCE), the de facto voice of the hereditary cancer community. Combining the latest scientific research with national guidelines, expert advice, and compelling patient stories, the book offers previvors (those who have a mutation but have never been diagnosed), survivors, and their families the guidance they need to face the unique physical and emotional challenges of living in a high-risk body. An ideal resource for genetic counselors, physicians, nurses, advocates, and others who support and care for the hereditary cancer community, Living with Hereditary Cancer Risk also provides coverage of * signs of inherited cancer risk in a family; * the value of genetic counseling and testing; * mutations in BRCA, Lynch Syndrome, and other genes that elevate cancer risk; * risk-reducing strategies; * traditional treatments and newer personalized approaches, including immunotherapies and PARP inhibitors; * nationally recommended guidelines for prevention, early detection, and treatment; * insurance coverage and discrimination protections; and * coping with sexual health, fertility, menopause, and other quality of life issues.

Genetics in the Madhouse - The Unknown History of Human Heredity (Paperback): Theodore M. Porter Genetics in the Madhouse - The Unknown History of Human Heredity (Paperback)
Theodore M. Porter
R598 Discovery Miles 5 980 Ships in 12 - 17 working days

The untold story of how hereditary data in mental hospitals gave rise to the science of human heredity In the early 1800s, a century before there was any concept of the gene, physicians in insane asylums began to record causes of madness in their admission books. Almost from the beginning, they pointed to heredity as the most important of these causes. Genetics in the Madhouse is the untold story of how the collection of hereditary data in asylums and prisons gave rise to a new science of human heredity. Theodore Porter looks at the institutional use of innovative quantitative practices-such as pedigree charts and censuses of mental illness-that were worked out in the madhouse long before the manipulation of DNA became possible in the lab. Genetics in the Madhouse brings to light the hidden history behind modern genetics and deepens our appreciation of the moral issues at stake in data work conducted at the border of subjectivity and science.

Living with HHT - Understanding and Managing Your Hereditary Hemorrhagic Telangiectasia (Paperback): Sara Palmer Living with HHT - Understanding and Managing Your Hereditary Hemorrhagic Telangiectasia (Paperback)
Sara Palmer
R748 Discovery Miles 7 480 Ships in 12 - 17 working days

Hereditary Hemorrhagic Telangiectasia (HHT) is a rare genetic disorder that causes blood vessel abnormalities in the nose, skin, gastrointestinal tract, lungs, brain, and liver. Nosebleeds are the most common symptom of HHT, but abnormal vessels in other organs, if they are not diagnosed and treated, can lead to serious medical complications, including stroke, hemorrhage, anemia, and brain abscess. Psychologist Sara Palmer, who has HHT herself and is an expert in helping people cope with health conditions, draws on current research as she thoroughly describes the symptoms of HHT, explains how the diagnosis is made (and often missed), and details treatment options. While addressing the medical aspects of HHT, Palmer also reveals how people affected by the disorder can maintain their emotional health, take care of family members, and live life as fully as possible. Enriched with illustrations, personal stories of people living with HHT, a glossary, and contact information for the HHT Centers of Excellence (which provide coordinated medical treatment for people with the disorder), Living with HHT is a complete resource for individuals with HHT and their families. This guide is also essential for health professionals seeking more information about this underdiagnosed disease.

Manual of Neonatal and Paediatric Congenital Heart  Disease (Paperback): FS Horrox Manual of Neonatal and Paediatric Congenital Heart Disease (Paperback)
FS Horrox
R3,081 Discovery Miles 30 810 Ships in 12 - 17 working days

A number of books have been written relating to congenital heart disease, but generally, they reflect individualised medical management of local practice and philosophies. Although this book assumes a prior working knowledge of congenital heart disease, it aims to provide the reader with a reference guide to be utilised at the bedside. The main aspiration of this book is to provide a comprehensive, affordable guide for paediatric, neonatal and adult nurses of young people with congenital heart disease, in this highly challenging speciality. This book is primarily written for nursing staff focusing on a multidisciplinary team approach to managing children. It is also a valuable tool for community staff, dieticians, doctors, neonatal staff, perfusionists, pharmacists, physiological measurment technicians, physiotherapists, psychologists, social workers, theatre staff, and other personnel who come into contact with this group of children.

Cancer Cytogenetics - Chromosomal and Molecular Genetic Aberrations of Tumor Cells 4e (Hardcover, 4th Edition): S. Heim Cancer Cytogenetics - Chromosomal and Molecular Genetic Aberrations of Tumor Cells 4e (Hardcover, 4th Edition)
S. Heim
R4,039 Discovery Miles 40 390 Ships in 12 - 17 working days

The first three editions of this acclaimed book presented a much-needed conceptual synthesis of this rapidly moving field. Now, Cancer Cytogenetics, Fourth Edition, offers a comprehensive, expanded, and up-to-date review of recent dramatic advances in this area, incorporating a vast amount of new data from the latest basic and clinical investigations. * New contributors reflecting broader international authorship and even greater expertise * Greater emphasis throughout on the clinical importance and application of information about cytogenetic and molecular aberrations * Includes a complete coverage of chromosome aberrations in cancer based on an assessment of the 60,000 neoplasms cytogenetically investigated to date * Now produced in full color for enhanced clarity * Covers how molecular genetic data (PCR-based and sequencing information) are collated with the cytogenetic data where pertinent * Discusses how molecular cytogenetic data (based on studies using FISH, CGH, SNP, etc) are fused with karyotyping data to enable an as comprehensive understanding of cancer cytogenetics as is currently possible

Hypospadias - Risk Factors, Epidemiology & Surgical Outcomes (Hardcover): Daniel H Preston Hypospadias - Risk Factors, Epidemiology & Surgical Outcomes (Hardcover)
Daniel H Preston
R3,774 Discovery Miles 37 740 Ships in 12 - 17 working days

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.

Microbial Metagenomics, Metatranscriptomics, and Metaproteomics, Volume 531 (Hardcover): Ed DeLong Microbial Metagenomics, Metatranscriptomics, and Metaproteomics, Volume 531 (Hardcover)
Ed DeLong
R4,490 Discovery Miles 44 900 Ships in 12 - 17 working days

This new volume of "Methods in Enzymology" continues the legacy of this premier serial with quality chapters authored by leaders in the field. This volume covers microbial metagenomics, metatranscriptomics, and metaproteomics, and includes chapters on such topics as in-solution FISH for single cell genome preparation, preparation of BAC libraries from marine microbial community DNA, and preparation of microbial community cDNA for metatranscriptomic analysis in marine plankton.
Continues the legacy of this premier serial with quality chapters authored by leaders in the field Covers microbial metagenomics, metatranscriptomics, and metaproteomicsContains chapters on such topics as in-solution fluorescence in situ hybridization (FISH) for single cell genome preparation, preparation of BAC libraries from marine microbial community DNA, and preparation of microbial community cDNA for metatranscriptomic analysis in marine plankton

Genetic Steroid Disorders (Hardcover): Maria I. New, Oksana Lekarev, Alan Parsa, Tony T Yuen, Bert O'Malley, Gary D. Hammer Genetic Steroid Disorders (Hardcover)
Maria I. New, Oksana Lekarev, Alan Parsa, Tony T Yuen, Bert O'Malley, …
R2,824 Discovery Miles 28 240 Ships in 12 - 17 working days

This is a comprehensive book addressing steroid disorders from hormonal, genetic, psychological, and surgical perspectives. It is meant to educate adult and pediatric endocrinologists, clinical geneticists, genetic counselors, reproductive endocrinologists, neonatologists, urologists, and psychoendocrinologists. It will assist these specialists in the diagnosis and treatment of steroid disorders. The book is written for postgraduate and faculty-level physicians. The content consists of steroid disorders, genetic bases for the disorder and case presentations of each disorder.
Provides a common language for professionals todiscuss and diagnose genetic steroid disordersIncludes the very latest details on genetic tests and diagnosesOffers a strong understanding of the molecular basis for the diseases and therefore correct diagnosis and treatment of steroid disorders Presents insight into which medications to use based on the genetic makeup of a patient Teaches the best strategies and most effective use of genetic information in the patient counseling setting"

Down Syndrome - Visions for the 21st Century (Paperback): WI Cohen Down Syndrome - Visions for the 21st Century (Paperback)
WI Cohen
R959 Discovery Miles 9 590 Ships in 12 - 17 working days

More than 350,000 individuals in the United States alone are affected by Down syndrome, a genetic disorder related to the presence of an extra copy of chromosome 21. Down Syndrome: Visions for the 21st Century is designed to provide a comprehensive and up-to-date treatment of the current issues of self-determination, education, and advocacy, as well as the most recent research developments.

Providing a comprehensive survey of the clinical, educational, developmental, psychosocial, and transitional issues relevant to people with Down syndrome, the book is structured to meet the needs of parents and professionals alike. The controversial topics of alternative and nonconventional therapies are included alongside the best practices of top experts in the fields of family support, supported living, and life in the community. Down Syndrome incorporates the newest developments concerning issues of sexuality, inclusion, transition into adulthood, and legislation and features a discussion of the implications of the Human Genome Project and the sequencing of chromosome 21. The book comprises ten chapters covering:

  • Self-Determination
  • Self-Advocacy
  • Advocacy
  • Role of the Family
  • Health and Clinical Care
  • Research
  • Psychosocial Issues
  • Education/Inclusion
  • Communication, Math, and Language Skills
  • Turning the Vision into Reality

Down Syndrome: Visions for the 21st Century assumes the stated mission of the National Down Syndrome Society: to ensure that all individuals with Down syndrome are provided the opportunity to achieve their potential in community life. Parents, family members, individuals with Down syndrome, advocates, educators, and physicians will benefit from this peerless guide.

Definitions, Protocols and Guidelines in Genetic Hearing Impairment (Paperback): A. Martini Definitions, Protocols and Guidelines in Genetic Hearing Impairment (Paperback)
A. Martini
R1,717 Discovery Miles 17 170 Ships in 12 - 17 working days

This book brings together many of the main conclusions of the European Concerted Action Programme on Genetic Hearing Impairment (HEAR). It is spilt into four sections, covering definitions, protocols, genotype/phenotype relationships and important websites.The section on definitions enables all those approaching the problems of Genetic Hearing Impairment from different backgrounds to communicate in the same language and understand what each is doing more clearly. The definitions are of Audiological, Vestibulogical, Epidemiological and Genetic terms, together with specific terms associated with particular craniofacial abnormalities.

The second section comprises protocols for the minimal set investigation of patients and their family members with genetic hearing impairment. Relatively little work has been done in the past on the balance of disorders which may be associated with Genetic Hearing Impairment and a protocol aiming to elucidate some of these factors in a relevant way has been defined. The final chapter in this section deals with how audiologists should relate to genetic laboratories in an attempt to reduce the confusion which has risen in this field in the past.

The third section is concerned with the relationship between genotypes and phenotypes in non-syndromal hearing impairment in the conditions in which the genes have so far been localised and in many cases identified.

The final section deals with the important websites within this field. The most important and the most visited is the Hereditary Hearing Loss website based on Antwerp and managed by Guy Van Camp and Richard Smith.

Genetic Diseases of the Kidney (Hardcover): Richard P. Lifton, Stefan Somlo, Gerhard H. Giebisch, Donald W. Seldin Genetic Diseases of the Kidney (Hardcover)
Richard P. Lifton, Stefan Somlo, Gerhard H. Giebisch, Donald W. Seldin
R3,532 Discovery Miles 35 320 Ships in 12 - 17 working days

Genetic Diseases of the Kidney identifies and analyzes genetic abnormalities causing renal diseases in human subjects. Although in a sense the genome contains all the instructions required for the formation of a phenotype, the information is encoded in an extremely complicated fashion. In primary genetic diseases, the genetic instruction specifies a phenotype clearly linked with a discreet lesion confined to the kidney. However, the genetic disturbance may be imbedded in a complicated physiologic ensemble, so that the nexus between the genetic disturbance and the phenotype may be obscured; in consequence, the causal sequence is extremely difficult to unravel. In many instances the renal disease is one component of a complicated systemic hereditary disease, either monogenic or polygenic. Indeed, renal disease may arise as the sum of minor inputs from many different, seemingly unrelated genes, so that the genetic contributions may be difficult to identify. Confounding the problem further are environmental influences, originating either in the chromosomal environment from modifier genes, or in the extra-chromosomal environmental from intrauterine or postnatal influences. These considerations have determined both the organization of the text as well as the detailed description of the genetic disorders and the physiologic derangements that emerge.
* Lays the essential foundation of mammalian genetics principles for medical professionals with little to no background in genetics
* Analyzes specific renal diseases - both monogenic disorders confined to the kidney as well as systemic diseases with renal involvement - and explains their genetic causes.
*World-renowned editors andauthors offer expert frameworks for understanding the links between genes and complex clinical disorders (i.e., lupus, diabetes, HIV, and hypertension)

Down Syndrome - A Review of Current Knowledge (Paperback): J. A Rondal Down Syndrome - A Review of Current Knowledge (Paperback)
J. A Rondal
R2,703 Discovery Miles 27 030 Ships in 12 - 17 working days

This text contains a collection of papers presented at the 6th World Congress on Down's Syndrome, held in Madrid in October 1997. The papers focus on the scientific advances and therapeutic practices that make it possible for people with Down's syndrome to enjoy good health, to be recognized socially, to go to mainstream school, to have a job, to integrate in their community and to enjoy a better quality of life.

The papers aim to reflect the dynamism of the Down's syndrome community at national and international levels, and the questions and solutions envisaged in many parts of the world. They also highlight the challenges for future concern. The most important and urgent challenges discussed are: increased recognition of the syndromic specificity of Down's syndrome; better knowledge of the genetic mechanisms inducing Down's syndrome and of the individual variation at the genetic and epigenetic level (particularly brain development); more precise characterization of psychological, educational and social development in Down's syndrome individuals; continued improvement of medical care for the whole life cycle of Down's syndrome individuals; better and specialized school techniques and approaches for tracking literacy and computational skills in Down's syndrome children and adolescents; more effective ways of integrating Down syndrome individuals into society and making them feel and be fully-fledged members of our social structures; and adequate medical, psychological, and social care of ageing Down's syndrome persons

Genetics in the Madhouse - The Unknown History of Human Heredity (Hardcover, New edition): Theodore M. Porter Genetics in the Madhouse - The Unknown History of Human Heredity (Hardcover, New edition)
Theodore M. Porter
R958 R797 Discovery Miles 7 970 Save R161 (17%) Ships in 12 - 17 working days

The untold story of how hereditary data in mental hospitals gave rise to the science of human heredity In the early 1800s, a century before there was any concept of the gene, physicians in insane asylums began to record causes of madness in their admission books. Almost from the beginning, they pointed to heredity as the most important of these causes. As doctors and state officials steadily lost faith in the capacity of asylum care to stem the terrible increase of insanity, they began emphasizing the need to curb the reproduction of the insane. They became obsessed with identifying weak or tainted families and anticipating the outcomes of their marriages. Genetics in the Madhouse is the untold story of how the collection and sorting of hereditary data in mental hospitals, schools for "feebleminded" children, and prisons gave rise to a new science of human heredity. In this compelling book, Theodore Porter draws on untapped archival evidence from across Europe and North America to bring to light the hidden history behind modern genetics. He looks at the institutional use of pedigree charts, censuses of mental illness, medical-social surveys, and other data techniques--innovative quantitative practices that were worked out in the madhouse long before the manipulation of DNA became possible in the lab. Porter argues that asylum doctors developed many of the ideologies and methods of what would come to be known as eugenics, and deepens our appreciation of the moral issues at stake in data work conducted on the border of subjectivity and science. A bold rethinking of asylum work, Genetics in the Madhouse shows how heredity was a human science as well as a medical and biological one.

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