Download or read book Human Achondroplasia written by Benedetto Nicoletti and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 471 pages. Available in PDF, EPUB and Kindle. Book excerpt: Proceedings of the first international symposium held in Rome, Nov. 1986, study the problems of shortness of stature and attempt to find answers to the life-threatening and disabling impairments that affect achondroplasts. Contributions address genetics, ultrastructure, and cartilage histochemistry;

Download or read book Strong and Mighty Max written by Kristina Gray and published by Troubador Publishing Ltd. This book was released on 2018-07-24 with total page 40 pages. Available in PDF, EPUB and Kindle. Book excerpt: Strong and Mighty Max was written by a mother of a child who was born with achondroplasia. Achondroplasia is a rare condition affecting 1 in 25.000 births. Children born with the condition have shorter limbs and slightly larger head than their peers, and have normal intelligence. This beautifully illustrated book encourages children to celebrate that each one of us in unique and different in some way. The revised edition has guided educational activities for primary aged children. To discuss differences, disabilities and the importance of kindness. The new character Katy challenges the reader to think about the importance of education to understand differences.

Download or read book Achondroplasia Its Nature and Its Cause written by Murk Jansen and published by . This book was released on 1912 with total page 122 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Achondroplasia written by Jennifer Garland and published by CreateSpace. This book was released on 2012-03-11 with total page 90 pages. Available in PDF, EPUB and Kindle. Book excerpt: Achondroplasia is a genetic abnormality resulting in short stature and other physical defects. This means that if you suffer from achondroplasia, you may have deformed bones resulting in physical abnormalities. Achondroplasia can result in physical defects such as short arms and legs and an abnormally large head. You may also be unable to move your elbow fully. Sometimes, this disorder is a result of genetics. But most of the cases of achondroplasia are free of any related family history and occur because of a random mutation of the genes. A variety of tests can discover the mutated gene, both inside and outside the womb. Various treatment options, including bone-lengthening procedures and other surgeries. This must-have book guides you through the disorder, including causes, tests and treatment options.

Download or read book Achondroplasia its nature and its cause written by Murk Jansen and published by . This book was released on 1912 with total page 122 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Management of Genetic Syndromes written by Suzanne B. Cassidy and published by John Wiley & Sons. This book was released on 2011-09-20 with total page 1678 pages. Available in PDF, EPUB and Kindle. Book excerpt: The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics

Download or read book Innovative Medicine written by Kazuwa Nakao and published by Springer. This book was released on 2015-10-13 with total page 330 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is devoted to innovative medicine, comprising the proceedings of the Uehara Memorial Foundation Symposium 2014. It remains extremely rare for the findings of basic research to be developed into clinical applications, and it takes a long time for the process to be achieved. The task of advancing the development of basic research into clinical reality lies with translational science, yet the field seems to struggle to find a way to move forward. To create innovative medical technology, many steps need to be taken: development and analysis of optimal animal models of human diseases, elucidation of genomic and epidemiological data, and establishment of “proof of concept”. There is also considerable demand for progress in drug research, new surgical procedures, and new clinical devices and equipment. While the original research target may be rare diseases, it is also important to apply those findings more broadly to common diseases. The book covers a wide range of topics and is organized into three complementary parts. The first part is basic research for innovative medicine, the second is translational research for innovative medicine, and the third is new technology for innovative medicine. This book helps to understand innovative medicine and to make progress in its realization.

Download or read book A Little Me written by Amy Roloff and published by Simon and Schuster. This book was released on 2019-05-15 with total page 203 pages. Available in PDF, EPUB and Kindle. Book excerpt: From the star of TLC’s hit reality show Little People BIG World comes a revelatory memoir that will inspire those who have long followed the Roloff’s and newcomers alike. “A Little Me by Amy Roloff is a feel-good, inspirational memoir about a remarkable woman who addresses challenges head-on with a positive outlook and deep faith.” – New York Journal of Books Whatever package you come in, life isn’t easier or harder than another’s because you are different physically. There may be more challenges, but still, everyone has challenges. “God doesn’t make mistakes.” For Amy Roloff, star of TLC’s hit reality show Little People, BIG World, her father’s words would repeatedly serve as an anchor, reminding her of her inherent worth and purpose, whenever feelings of insecurity and inadequacy surfaced and threatened to overwhelm her. In A Little Me, Amy shares what it was like growing up with achondroplasia dwarfism, how she struggled to overcome obstacles both physical and emotional—navigating the average-size world as a little person, dealing with a serious illness as a young girl, bullying, and issues of body image and unachievable beauty ideals—while learning, as we all must, to accept herself for who she is. Finally allowing herself to be vulnerable enough to open up to others, she learned that it’s worth risking possible rejection for a chance at genuine relationships. Amy’s memoir is an inspiring and at times heart-wrenching account of resilience and the strength of the human spirit to overcome seemingly insurmountable obstacles.

Download or read book Bone Dysplasias written by Jürgen W. Spranger and published by Oxford University Press, USA. This book was released on 2018 with total page 929 pages. Available in PDF, EPUB and Kindle. Book excerpt: The definitive guide to genetic bone disorders, now revised and expanded with glossy photographs and radiographs.This updated and expanded fourth edition of Bone Dysplasias presents age-related radiographs, photographs and clinical guidelines for more than 250 rare constitutional skeletal diseases. Focusing on diagnostically essential imaging and clinical features, each chapter is supplemented with prognosticand therapeutic information, a guide to differential diagnoses, and a short list of the most relevant publications.Organized in accordance with the most recent International Nosology and Classification of Genetic Skeletal Disorders, this new Bone Dysplasias distills the insights of a small, world-class author team on diagnosis and clinical approaches to this most difficult class of disorders.

Download or read book Health related Disorders in Children and Adolescents written by LeAdelle Phelps and published by Amer Psychological Assn. This book was released on 1998-01-01 with total page 743 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume features reviews of 96 medical conditions that result in educational, psychological and behavioural challenges for those involved in the care of children with health-related disorders. Each chapter reviews the aetiology of the disorder, which is followed by a section on the expected behavioural and physical outcomes. Authors then describe psychoeducational implications and cover interventions that school psychologists, school-based professionals and medical professionals can use to help ease the suffering of these children.

Download or read book Little Legs Big Heart written by Kristen E. DeAndrade and published by Balboa Press. This book was released on 2019-01-26 with total page 268 pages. Available in PDF, EPUB and Kindle. Book excerpt: For author Kristen DeAndrade, it doesn’t matter how long your legs are. You can only take one step at a time. Born with achondroplasia, dwarfism, she chronicles her personal journey of facing challenges and breaking barriers in Little Legs, Big Heart. Through diary entries from her childhood journal, combined with a humorously, honest narrative, she shares her sheer determination growing up in the face of adversity and undergoing multiple medical procedures, including extended limb lengthening, which she opted to brave at the age of twelve. Narrating both the physical and emotional challenges, DeAndrade offers a look at her strength in facing her challenges head on in a story filled with both integrity and interminable sass. Little Legs, Big Heart journeys through tears, laughter, devastation, and hope as it tells about a girl on a mission to find her identity. It gives a new perspective on life’s challenges and shows the world how to meet the varied demands of life with grit and grace.

Download or read book Mendel s Dwarf written by Simon Mawer and published by Other Press, LLC. This book was released on 2012-12-11 with total page 281 pages. Available in PDF, EPUB and Kindle. Book excerpt: Like his great-great-great-uncle, geneticist Gregor Mendel, Dr. Benedict Lambert struggles to unlock the secrets of heredity and genetic determinism. However, Benedict's mission is particularly urgent and particularly personal, for he was born with achondroplasia--he's a dwarf. He's also a man desperate for love and acceptance, and when he finds both in Jean, a shy librarian, he stumbles upon an opportunity to correct the injustice of his own, at least to him, unlucky genes. Entertaining and tender, this witty and surprisingly erotic novel reveals the beauty and drama of scientific inquiry as it informs us of the simple passions against which even the most brilliant mind is rendered powerless.

Download or read book 2000 CDC Growth Charts for the United States written by and published by . This book was released on 2002 with total page 208 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Pediatric Orthopedics written by Amr Abdelgawad and published by Springer Science & Business Media. This book was released on 2013-09-24 with total page 589 pages. Available in PDF, EPUB and Kindle. Book excerpt: ​Topics in pediatric orthopedics routinely surface in general pediatrics and primary care, whether on board exams or in clinical practice. From birth injuries to musculoskeletal infections, there are many conditions and presenting complaints that must be addressed by the primary care physician or pediatrician. This concise and targeted handbook contains just the need to know conditions, injuries, and diseases necessary for residents and even seasoned clinicians to brush up on pediatric orthopedic topics with ease. Information is contained within themed chapters (like neuromuscular diseases or musculoskeletal infections) and also by anatomical region (hip, knee foot, spine, etc.). This book gives readers the basic knowledge to be able to identify common orthopedic conditions, indications to either treat these conditions or refer patient to an orthopedist, and covers the entire required curriculum needed to answer musculoskeletal questions on the pediatrics board exam.

Download or read book Dwarfs in Ancient Egypt and Greece written by Veronique Dasen and published by Oxford University Press. This book was released on 2013-03-21 with total page 468 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book examines dwarfs in myth and everyday life in ancient Egypt and Greece. The spectacular forms of dwarfism were always a focus of interest, and it is the most depicted disorder in antiquity. Dasen brings together a whole range of mostly unpublished or little-known iconographic, epigraphic, literary, and anthropological evidence.

Download or read book Essential Questions in Paediatrics for MRCPCH written by R. M. Beattie and published by PasTest Ltd. This book was released on 2004 with total page 228 pages. Available in PDF, EPUB and Kindle. Book excerpt: Features over 500 questions to help you prepare for your MRCPCH Part 1 exams. With chapters corresponding to those in the 'Essential Revision Notes', this title uses a variety of question formats to test your comprehension of the key points.

Download or read book Human Pathobiochemistry written by Toshitaka Oohashi and published by Springer. This book was released on 2019-03-13 with total page 349 pages. Available in PDF, EPUB and Kindle. Book excerpt: This textbook uses a case-study approach to present the core principles of biochemistry and molecular biology in the context of human disease to students who will be involved in patient care. The 29 clinical cases have been carefully selected to cover key scientific concepts and some common, and other not so common, diseases. While the principal focus is on topics relating to metabolic disease, further subjects such as connective tissue disorders, neurological disorders, auto-inflammatory disorders, infective diseases, and cancer are also addressed. Each chapter provides a specific patient report that includes the natural history, pertinent clinical laboratory data, physical findings, subsequent diagnosis, and therapy. This is followed by a comprehensive discussion of the normal biochemical processes and reactions pertaining to the case, along with the pathophysiological mechanisms of the disease. Graphical diagrams are provided in each chapter for ease of comprehension.