The only comprehensive overview of the molecular basis and clinical features of the genetic disorder tuberous sclerosis, which affects approximately 50,000 people in the US alone. Special focus is placed on novel insights into the signal transduction pathways affected by the disease as well as genotype phenotype correlations, while existing and potential therapies are also discussed in depth. The editors are leading experts in research and treatment of the disease as well as the Vice President of the Tuberous Sclerosis Alliance, the only voluntary health organization for TSC in the US.
Genes, Clinical Features and Therapeutics
Author: David J. Kwiatkowski,Vicky Holets Whittemore,Elizabeth A. Thiele
Publisher: John Wiley & Sons
A popular and easy-to-use guide, this book is a must-have tool for clinical consultations in genetics and genomic medicine. Ideal for quick reference during practice, it covers the process of diagnosis, investigation, management, and counselling for patients. With a strong evidence base and international guidelines, it puts reliable and trustworthy guidance at your fingertips. Designed for use as a first-line guide, the A to Z format ensures it's accessible, and the simple layout makes it easy to assimilate information. Highly illustrated, the book also contains up-to-date glossaries of terms used in genetics and dysmorphology providing quick reference for key concepts. The second edition is an eagerly anticipated update of the gold standard in the specialty. It covers new developments in the field, particularly the advent of genome-wide sequencing and major updates in cancer. Fifteen new topics have been added, including Sudden cardiac death, Neonatal screening, and Ciliopathies. The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both outpatient and ward based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are all covered, and where available diagnostic criteria are included. In addition there are chapters on familial cancer and pregnancy-related topics such as fetal anomalies, teratogens, prenatal and pre-implantation diagnosis and non-invasive prenatal testing. The book also provides information on the less common situations where management is particularly complex. Both practical and pertinent, Oxford Desk Reference: Clinical Genetics and Genomics is the companion you need by your side during clinical consultations.
Author: Helen V. Firth,Jane A. Hurst
Publisher: Oxford University Press
A definitive, clinically oriented guide to the pathology of genetics of developmental neuropathology Developmental neuropathology relates to the wide range of disorders affecting the developing brain or pre- and post-natal life, with emphasis on the genetic and molecular mechanisms involved. This book provides a practical guide to diagnosing and understanding these disorders affecting this vulnerable population and potentially stimulates further advances in this exciting area. It also addresses the controversies in inflicted head injury in infants. The fourth major title to be approved by the International Society of Neuropathology (ISN), Developmental Neuropathology offers in-depth chapter coverage of brain development; chromosomal changes; malformations; secondary malformations and destructive pathologies; developmental vascular disorders; acquired metabolic and exogenous toxins; metabolic disorders; Rett syndrome and autism; and infectious diseases. The text provides: Clinical, disease-oriented approach to the pathology and genetics developmental neuropathology Fuses classical and contemporary investigative approaches Includes genetic and molecular biological pathogeneses Fully illustrated Approved and endorsed by International Society of Neuropathology Developmental Neuropathology is the perfect book for practicing neuropathologists, pediatric pathologists, general pathologists, neurologists, and geneticists in deciphering the pathology and pathogenesis of these complex disorders affecting the nervous system of the embryo, fetus, and child.
Author: Homa Adle-Biassette,Brian N. Harding,Jeffrey A. Golden
Publisher: John Wiley & Sons
Over the last four decades, breakthroughs in genetic knowledge, together with the emergence of disciplines devoted to the scientific study of developmental disorders have resulted in much greater awareness of the many different behavioural and genetic phenotypes involved. It is now evident that not only do different disorders have different causes and different manifestations, but different neurological and biochemical bases, different responses to intervention, and different life courses. Reflecting the enormous changes that have taken place in our knowledge and understanding of developmental disorders, this groundbreaking international volume brings this vast and complex field together for the first time. The Editors have collected together the world's leading academic scholars and clinicians, to explore how current research across a range of different disciplines can inform clinical practice and help to improve the lives of individuals and their families.
Author: Patricia Howlin,Tony Charman,Mohammad Ghaziuddin
This cutting-edge book brings advances in genetics, neurobiology, and psychopharmacology to the clinic to enhance treatment for neurodevelopmental disorders. Significant progress has been made in identifying the neurobiological mechanisms of several disorders and targeted treatments are modifying the outcome of these disorders. However, the ability to utilize this knowledge has not been summarized in one place for the practicing clinician. This book will fill that gap by providing the theoretical underpinnings and the latest advances in targeted treatments. Several neurodevelopmental disorders are reviewed in detail including clinical features and behavioral phenotypes, standard treatments and new targeted treatments based on the latest advances in neurobiology and the animal model studies that have led to new treatments. The disorders covered include psychiatric disorders: schizophrenia, depression, autism and ADHD; single gene disorders including Tuberous Sclerosis, Fragile X Syndrome and fragile X- associated disorders, Angelman Syndrome, PKU, and Muscular Dystrophies; and complex genetic disorders such as Down syndrome. This book also highlights the commonalities across disorders and new genetic and molecular concepts in an easy to read format. This is a very exciting time for new targeted treatments and this volume is a landmark treatise on this new age of treatment.
Targeting Neurobiological Mechanisms
Author: Randi Hagerman,Robert Hendren
Publisher: Oxford University Press
Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Fifth Edition provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to the majority of neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Every chapter has been thoroughly revised or newly commissioned to reflect the latest scientific and medical advances by an international team of leading scientists and clinicians. The contents have been expanded to include disorders for which a genetic basis has been recently identified, together with abundant original illustrations that convey and clarify the key points of the text in an attractive, didactic format. Previous editions have established this book as the leading tutorial reference on neurogenetics. Researchers will find great value in the coverage of genomics, animal models and diagnostic methods along with a better understanding of the clinical implications. Clinicians will rely on the coverage of the basic science of neurogenetics and the methods for evaluating patients with biochemical abnormalities or gene mutations, including links to genetic testing for specific diseases. Comprehensive coverage of the neurogenetic foundation of neurological and psychiatric disease Detailed introduction to both clinical and basic research implications of molecular and genetic understanding of the brain Detailed coverage of genomics, animal models and diagnostic methods with new coverage of evaluating patients with biochemical abnormalities or gene mutations
Author: Roger N. Rosenberg,Juan M. Pascual
Molecules to Medicine with mTOR: Translating Critical Pathways into Novel Therapeutic Strategies is a one-stop reference that thoroughly covers the mechanistic target of rapamycin (mTOR). mTOR, also known as the mammalian target of rapamycin, is a 289-kDa serine/threonine protein kinase that is ubiquitous throughout the body and has a critical role in gene transcription and protein formation, stem cell development, cell survival and senescence, aging, immunity, tissue regeneration and repair, metabolism, tumorigenesis, oxidative stress, and pathways of programmed cell death that include apoptosis and autophagy. Incorporating a translational medicine approach, this important reference highlights the basic cellular biology of mTOR pathways, presents the role of mTOR during normal physiologic function and disease, and illustrates how the mechanisms of mTOR can be targeted for current and future therapeutic treatment strategies. Coverage of mTOR signaling includes the entire life cycle of cells that impacts multiple systems of the body including those of nervous, cardiovascular, immune, musculoskeletal, endocrine, reproductive, renal, and respiratory origin. Covers the role of mTOR by internationally recognized expert contributors in the field. Provides a clear picture of the complexity of mTOR signaling as well as of the different approaches that could target this pathway at various levels. Includes analysis of the role of mTOR and in both health and disease. Serves as an important resource for a broad audience of healthcare providers, scientists, drug developers, and students in both clinical and research settings.
Translating Critical Pathways into Novel Therapeutic Strategies
Author: Kenneth Maiese
Publisher: Academic Press
Neurocutaneous Diseases is a systematic presentation limited to diseases that affect both of the nervous system and skin of humans. Neurologists and dermatologist will find knowledge of these diseases of real clinical value. Many of the diseases described in these pages do not affect the skin and nervous system simultaneously. Many of these diseases, mostly not well understood, may stimulate new lines of scientific inquiry, for understanding of a pathologic change in easily accessible dermal cells that promises to clarify a more recondite brain disease. This book is organized into five main parts. The chapters describe different types of diseases including those with autosomal dominant inheritance, those with autosomal recessive inheritance, those with x-linked inheritance, those with unknown or multiple inheritance and congenital and vascular anomalies. These diseases include neurofibromatosis, Cockayne's Syndrome, adrenoleukodystrophy, albinism and neurocutaneous melanosis. This book will be of interest to dermatologists and neurologists.
A Practical Approach
Author: Manuel Rodriguez Gomez
Category: Health & Fitness
Models of Seizures and Epilepsy, Second Edition, is a valuable, practical reference for investigators who are searching for the most appropriate laboratory models to address key questions in the field. The book also provides an important background for physicians, fellows, and students, offering insight into the potential for advances in epilepsy research as well as R&D drug development. Contents include the current spectrum of models available to model different epilepsy syndromes, epilepsy in transgenic animals, comorbidities in models of epilepsy, and novel technologies to study seizures and epilepsies in animals. Provides a comprehensive reference detailing animal models of epilepsy and seizure Offers insights on the use of novel technologies that can be applied in experimental epilepsy research Edited by leading experts in the field that provide not only technical reviews of these models but also conceptual critiques Comments on the strengths and limitations of various models, including their relationship to clinical phenomenology and their value in developing better understanding and treatments
Author: Asla Pitkänen,Paul Buckmaster, DVM, PhD,Aristea S Galanopoulou,Solomon L. Moshé
Publisher: Academic Press
"This is clearly the most authoritative and contemporary statement of current knowledge yet published." from the Foreword by H. Sarnat Tuberous sclerosis is the prototype of a category of malformations uniquely characterized by disturbances in cellular differentiation and growth. It presents with a complex association of different neurological phenotypes, including seizures, cognitive impairments and autism. It is important not only because it is a relatively common hereditary neurological disease with high morbidity, but because it has implications in other pathological processes, such as dysplasia and neoplasia, hamartoma formation and other disturbances in morphogenic processes. This book correlates new genetic data and basic science, covers clinical presentation, reviews the historical background and current diagnostic criteria, and deals with the recent advances in neuropathology, molecular genetics and neurobiology which give a better understanding of the pathogenesis of the disease. Paediatricians and child neurologists will find this book uniquely useful.
From Basic Science to Clinical Phenotypes
Author: Paolo Curatolo
Publisher: Cambridge University Press
Neurocutaneous Syndromes provides the most updated and comprehensive resource on the disorders that lead to the growth of tumors in various parts of the body, those caused by the abnormal development of cells in an embryo and characterized by the presence of tumors in various parts of the body and eyes, including the nervous system, and by certain differences in the skin. The most common neurocutaneous syndromes include, neurofibromatosis, Sturge-Weber syndrome, tuberous sclerosis, ataxia-telangiectasia, and von Hippel-Lindau disease. Symptoms vary widely and while present early may not express until later in life. As molecular medicine and genetic science is continuing to impact our understanding of neurocutaneous syndromes, this book also includes the latest molecular and genetic science. Provides a comprehensive coverage of neurocutaneous syndromes Details the latest molecular and genetic science related to neurocutaneous syndromes Presents a focused reference for clinical practitioners and the neuroscience, clinical neurology, and neurogenetics research communities Includes updated sections on the latest molecular and genetic science
Author: Monica P. Islam,E. Steve Roach
This text was created to fill a void in the practice of pediatric neuropathology. It is a practical and well-illustrated book representing a collection of interesting, common and unusual tumors for a diagnostic exercise by the reader. The wide reception of the first edition by the pathology community is testament to its relevance and utility in the pathologic diagnosis of pediatric brain tumors. This edition covers topics ranging from neuroimaging, the use of crush and touch preps during intraoperative consultation, classic histological features of pediatric brain tumors, tumor variants, and a miscellaneous group of challenging tumors. Chapters consist of essential diagnostic information and features highlighting recognized variants and their differential diagnoses. A section on molecular pathology and electron microscopy is also included for each tumor category, along with a list of classic reviews and innovative articles on each of the tumor entities as suggested reading at the end of each chapter. Atlas of Pediatric Brain Tumors, Second Edition represents the state of the art in pediatric neuropathology with easy utility beside the microscope.
Author: Adekunle M. Adesina,Tarik Tihan,Christine E. Fuller,Tina Young Poussaint
Serving the needs of pigment cell biologists, cellular physiologists, developmental geneticists, researchers interested in melanoma and more, this new book showcases a blend of new technologies and new insights in the field of pigmantary genetics of mice, with comparative information on other animals. Graduate students can learn here the terminology and scope of the field, and animal fanciers can discover the genetics behind common color variants of mammals. The book is hailed for being written by four of the premier scientists in the field. These authors aim to present the molecular /cellular work in the context of phenotype and the interacting functions of genes that direct the development and function of one biological system. For other researchers, the depth of genetic knowledge on the pigmantary system makes it a valuable model for the study of other systems.
A Model Genetic Network
Author: M. Lynn Lamoreux,Véronique Delmas,Lionel Larue,Dorothy Bennett
Publisher: John Wiley & Sons
For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice. With almost 5,000 pages of detailed coverage, this fully online sixth edition of the classic reference adds the latest information on prenatal diagnosis, genetic screening, genetic counseling, and treatment strategies to complete its coverage of the growing field for medical students, residents and physicians involved in the care of patients with genetic conditions. Clinically oriented information is supported by expanded sections on basic principles of genetics, research approaches, and analytics to embrace the evolving population of students, researchers, and practitioners who are integrating their work to provide advanced diagnosis, prevention and treatment of human disease. With advances in high-throughput technologies propelling the closer integration of lab and clinical work, this edition bridges the gap between high-level molecular genetics and clinical application. Features 174 review-length contributions that encompass traditional and new areas of the field - including in cancer genetics, genomic technologies, and molecular assays Provides many thousands of pertinent literature references guiding the reader in identifying related topics Fully illustrated with hundreds of color images, supporting identification, concept illustration and method processing
Author: David L. Rimoin,Reed E. Pyeritz,Bruce Korf
Publisher: Academic Press
Highlighting the available evidence base, this books is the most authoritative manual for clinicians based upon the risks and benefits of the procedure across all indications with special emphasis on a comprehensive review of the many skin lesions amenable to treatment with cryosurgery Practical and yet comprehensive in outlook, in this a group of international authorities in all aspects of cryosurgery and cryotherapy present the most comprehensive clinically relevant reference for practicing dermatology physicians.
Author: William Abramovits,Gloria Graham,Yaron Har-Shai,Renata Strumia
"Princess Katie is a happy, lively little girl--but she has challenges in life. She goes to the doctor a lot, and to the hospital, too. The other princes and princesses in the kingdom don't seem to need this much medical attention... so, Katie wonders, why does she?"--Page  of cover.
A Story About Living With Tsc
Author: Jennifer Flinn,Jessica Fleury
Category: Juvenile Fiction
Neurologists present their own experiences and step-by-step guidelines on the management and treatment of specific disorders affecting the nervous system. Diagnosis, epidemiology, and pathophysiology are discussed only when they affect treatment strategies and decisions. Treatment algorithms and patient resource information complement each chapter.
Author: Richard Tidball Johnson,John W. Griffin,Justin C. McArthur
Publisher: Elsevier Health Sciences
Since this book is geared to be used by varied groups of readers such as advanced students and instructors in the fields of biology and medicine, scientists and more importantly clinicians, it is considered important to provide brief accounts of the basics of DNA damage, repair, mutagenesis and cancer. The purpose of this book is to present an updated detailed account of some important additional diseases of DNA repair. It has not been possible to cover all the DNA repair deficient diseases in this volume, hence diseases such as Bloom’s syndrome, Werner’s syndrome, Nijmegen breakage syndrome, ataxia telangiectasia‐like disorder, RA D 50 deficiency, RIDDLE syndrome and others will be presented in a forthcoming volume.
Author: Shamim I. Ahmad
Publisher: Springer Science & Business Media
This fourth edition of the Oxford Textbook of Clinical Nephrology builds on the success and international reputation of the publication as an important resource for the practising clinician in the field. It provides practical, scholarly, and evidence-based coverage of the full spectrum of clinical nephrology, written by a global faculty of experts. The most relevant and important reference to clinical nephrology, this is an authoritative and comprehensive textbook combining the clinical aspects of renal disease essential to daily clinical practice with extensive information about the underlying basic science and current evidence available. Each section of the textbook has been critically and comprehensively edited under the auspices of a leading expert in the field. This new edition has been significantly expanded and reapportioned to reflect developments and new approaches to topics, and includes treatment algorithms to aid and enhance patient care where possible. The fourth edition offers increased focus on the medical aspects of transplantation, HIV-associated renal disease, and infection and renal disease, alongside entirely new sections on genetic topics and clinical and physiological aspects of fluid/electrolyte and tubular disorders. The emphasis throughout is on marrying advances in scientific research with clinical management. Richly illustrated throughout in full colour, this is a truly modern and attractive edition which reinforces the Oxford Textbook of Clinical Nephrology's position as an indispensable reference work of consistent quality and reliability. Enriched and refined by careful revision, this new edition continues the tradition of excellence.
Author: Neil Turner,David Goldsmith,Christopher Winearls,Nobert Lamiere,Jonathan Himmelfarb,Giuseppe Remuzzi
Publisher: Oxford University Press
NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.
Author: National Organization for Rare Disorders
Publisher: Lippincott Williams & Wilkins