Author: David J. Kwiatkowski
Publisher: John Wiley & Sons
Release Date: 2011-08-24
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.
Author: Homa Adle-Biassette
Publisher: John Wiley & Sons
Release Date: 2018-04-30
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: Randi Jenssen Hagerman
Publisher: Oxford University Press (UK)
Release Date: 2014
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.
Author: Monica Mita
Release Date: 2015-11-18
This book describes the challenges involved in developing mTOR inhibitors for cancer treatment, starting with an in-depth examination of their molecular mechanism of action, with emphasis on the class side-effects, efficacy and mechanisms of resistance, as well as on promising novel directions for their development, including novel compounds and rational combinations with other anti-neoplastic drugs. Over the last 10 years, inhibitors of mTOR have emerged as a major class of anticancer drugs. Two rapamycin analogs are currently approved for the treatment of renal cell carcinoma, and it is estimated that a variety of other tumor types could benefit from mTOR inhibition, with numerous clinical trials (including pivotal registration trials) already underway. Second-generation small-molecule inhibitors of the pathway have also shown promise in terms of their superior tolerability and efficacy and are undergoing extensive clinical evaluation, with an estimated 30+ compounds currently under evaluation.
Author: Stephen J. Ryan
Publisher: Elsevier Health Sciences
Release Date: 2012-11-01
Unequalled in scope, depth, and clinical precision, Retina, 5th Edition keeps you at the forefront of today’s new technologies, surgical approaches, and diagnostic and therapeutic options for retinal diseases and disorders. Comprehensively updated to reflect everything you need to know regarding retinal diagnosis, treatment, development, structure, function, and pathophysiology, this monumental ophthalmology reference work equips you with expert answers to virtually any question you may face in practice. Consult this title on your favorite e-reader with intuitive search tools and adjustable font sizes. Elsevier eBooks provide instant portable access to your entire library, no matter what device you're using or where you're located. Examine and evaluate the newest diagnostic technologies and approaches that are changing the management of retinal disease, including future technologies which will soon become the standard. Put the very latest scientific and genetic discoveries, diagnostic imaging methods, drug therapies, treatment recommendations, and surgical techniques to work in your practice. Benefit from the extensive knowledge and experience of esteemed editor Dr. Stephen Ryan, five expert co-editors, and a truly global perspective from 358 other world authorities across Europe, Asia, Australasia, and the Americas. Make the best use of new technologies with expanded and updated coverage of optical coherence tomography (OCT), fundus imaging, and autofluorescence imaging. Apply the latest knowledge on anti-VEGF therapy for age related macular degeneration, diabetic retinopathy and vein disease. Learn about artificial vision, drug delivery to the posterior segment, advances in macular surgery, vitrectomy, and complex retinal detachment, with updates on tumors, retinal genetics, cell biology, important basic science topics, and much more. Get the most out of new pharmacologic approaches in the management of age-related macular degeneration and diabetic retinopathy. In your practice, diagnostic evaluations, and now even treatments, will be influenced by recent scientific discoveries such as in the areas of nanotechnology, neuro protection, stem cells and gene therapy, among other scientific contributions. View videos of surgical procedures and access the complete contents of Retina, 5th Edition online at www.expertconsult.com, fully searchable, with regular updates and a downloadable image gallery.
"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.
Author: Jurgen Floege
Publisher: Elsevier Health Sciences
Release Date: 2010-11-08
Comprehensive Clinical Nephrology provides you with all the tools you need to manage all forms of kidney disease. Drs. Jürgen Floege, Richard J. Johnson, John Feehally and a team of international experts have updated this fourth edition to include hot topics such as treatment of hypertensive emergencies, herbal and over-the-counter medicines and the kidney, neurologic complications of the kidney, and more. This essential resource gives you quick access to today’s best knowledge on every clinical condition in nephrology. Make efficient, informed decisions with just the right amount of basic science and practical clinical guidance for every disorder. Diagnose effectively and treat confidently thanks to more than 1100 illustrations, abundant algorithms, and tables that highlight key topics and detail pathogenesis for a full range of kidney conditions and clinical management. Get coverage of the latest developments in the field with 18 new chapters on the Management of the Diabetic Patient with Chronic Kidney Disease, Treatment of Hypertensive Emergencies, Principles of Drug Dosing and Prescribing of Chronic Kidney Disease, Herbal and Over-the-Counter Medicines and the Kidney, Neurologic Complications of the Kidney, and more. Tap into the experience and expertise of the world’s leading authorities in the field of nephrology. Floege, Johnson, and Feehally give you the information you need to make quick and correct clinical decisions
Author: Lawrence A. Schachner
Publisher: Elsevier Health Sciences
Release Date: 2011-02-08
The latest edition of Pediatric Dermatology, edited by Lawrence A. Schachner, MD and Ronald C. Hansen, MD brings you the detailed guidance you need to effectively diagnose and treat pediatric skin conditions. Review topics from keratinization to stem cell therapy, and gain expert guidance from international contributors. Now in a comprehensive format with 40% all new clinical photos, this resource is ideal for clinical practice. Refer to full-color photographs that accurately capture the appearance of a wide range of skin disorders. Access many new tables and therapeutic algorithms for at-a-glance guidance. Recognize distinguishing factors in skin lesions with 40% new and improved clinical photographs. Find extended coverage of topics like genodermatoses and disorders of keratinization, review excellent information on skin neoplasms in children, new systemic therapies, and viral disorders, and explore new concepts in autoinflammatory disorders and Kawasaki’s disease. Read up on best practices and stay at the forefront of your profession with new perspectives from a host of international contributors like new Associate Editor Antonio Torrello, who co-edits the Pediatric Dermatology journal.
Author: M. Lynn Lamoreux
Publisher: John Wiley & Sons
Release Date: 2010-03-05
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.
Author: Adekunle M. Adesina
Release Date: 2016-10-03
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: Jean L. Bolognia
Publisher: Elsevier Health Sciences
Release Date: 2012-06-08
Dermatology, edited by world authorities Jean L. Bolognia, MD, Joseph L. Jorizzo, MD, and Julie V. Schaffer, MD, is an all-encompassing medical reference book that puts the latest practices in dermatologic diagnosis and treatment at your fingertips. It delivers more comprehensive coverage of basic science, clinical practice, pediatric dermatology, and dermatologic surgery than you’ll find in any other source. Whether you’re a resident or an experienced practitioner, you’ll have the in-depth, expert, up-to-the-minute answers you need to overcome any challenge you face in practice. Find answers fast with a highly user-friendly, "easy-in-easy-out" format and a wealth of tables and algorithms for instant visual comprehension. Get full exposure to core knowledge with coverage of dermatology’s entire spectrum of subspecialties. See just the essential information with "need-to-know" basic science information and key references. Expedite decision making and clarify complex concepts with logical tables, digestible artwork, and easy-to-grasp schematics. Visualize more of the conditions you see in practice with over 3500 illustrations, of which over 1,400 are new: 1,039 clinical images, 398 pathology slides, and 152 schematics. Stay at the forefront of your field with updated treatment methods throughout, as well as an increased focus on patients with skin of color. Get an enhanced understanding of the foundations of dermatology in pathology, the clinical setting, and dermoscopy with a completely rewritten introductory chapter. Better comprehend the clinical-pathological relationship of skin disease with increased histologic coverage. Bolognia’s Dermatology is the ultimate multimedia reference for residents in training AND the experienced practitioner.
Author: Arthur MacNeill Horton, Jr., EdD, ABPP, ABPN
Publisher: Springer Publishing Company
Release Date: 2011-10-25
"I am pleased to include this text in my library, and I am confident that it will serve as an excellent resource for years to come."--PsycCRITIQUES This book serves as an A-Z reference that addresses the neuropsychological aspects of 300 neurological, neuropsychiatric, and neuromedical disorders. Each entry follows a 5 section structure that will cover (1) essential features of the disorder (2) physiological basis of the disorder (3) neuropsychological and other clinical presentation (4) assessment and diagnostic practices (5) evidence-based treatments and interventions. This book is written for clinical professionals and students in training to aid in clinical awareness, diagnostic accuracy, and intervention successfulness. The text goes beyond the emotional and behavioral aspects of each disorder and views the broader impacts of the symptoms. This approach emphasizes the importance of looking at the other functional impacts of these manifestations (e.g. cognitive deficits secondary to depression, orthodopaedic ambulation issues). The emphasis on neuropsychological sequelae, physiological basis, and means of diagnosing and treating of 300 conditions across the lifespan make this the most comprehensive resource available to professionals in and around neuropsychology, neuropsychiatry and the behavioral neurosciences. Key Features: Presents 300 highly-structured entries providing disorder features, pathology and physiology, clinical representation, assessment and diagnosis, and evidence-based treatments and interventions Covers neurological, neuropsychiatric, and neuromedical disorders across the lifespan (pediatric, adult, and geriatric populations) Includes interventions and methods of treatment for the outcomes patients may experience
Author: K.D. Gardner
Publisher: Springer Science & Business Media
Release Date: 2012-12-06
This is a book about renal cysts and cystic kidneys. Its contributors have created a resource of current information in a field that once aroused only curiosity, but that now stands at the leading edge of molecular nephrology. Its authorship includes 'oldtimers', who bring the wisdom of experience, and 'newcomers', whose presence attests to the contributions made by the investigative and technological advances of the past decade. Its text is organized to carry the reader from renal cyst to cystic renal disease. Each of its chapters defines or explores a challenge or an advance. Cells that line renal cysts are diverse in structure, type, and perhaps function. The cysts themselves lie within an interstitium that is not normal and may influence cyst development and growth. Experimental analogs of human disease offer increasing opportunities to basic researchers to examine, in sequence and under controlled circumstances, those events that favor nephron dilation, cyst growth and ultimate renal failure.
Author: Bruce R. Korf
Publisher: John Wiley & Sons
Release Date: 2012-11-19
This fourth edition of the best-selling textbook, Human Genetics and Genomics, clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today’s genetics teaching, and includes updated discussion of genetic risk assessment, “single gene” disorders and therapeutics. Key learning features include: Clinical snapshots to help relate science to practice ‘Hot topics’ boxes that focus on the latest developments in testing, assessment and treatment ‘Ethical issues’ boxes to prompt further thought and discussion on the implications of genetic developments ‘Sources of information’ boxes to assist with the practicalities of clinical research and information provision Self-assessment review questions in each chapter Accompanied by the Wiley E-Text digital edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at www.korfgenetics.com, including: Factsheets on 100 genetic disorders, ideal for study and exam preparation Interactive Multiple Choice Questions (MCQs) with feedback on all answers Links to online resources for further study Figures from the book available as PowerPoint slides, ideal for teaching purposes The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline.