Neurofibromatoses

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Neurofibromatosis Type 1

Author : Meena Upadhyaya
Publisher : Springer Science & Business Media
ISBN 13 : 3642328644
Total Pages : 711 pages
Book Rating : 4.6/5 (423 download)

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Book Synopsis Neurofibromatosis Type 1 by : Meena Upadhyaya

Download or read book Neurofibromatosis Type 1 written by Meena Upadhyaya and published by Springer Science & Business Media. This book was released on 2013-01-29 with total page 711 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurofibromatosis type 1 (NF1), caused by mutational inactivation of the NF1 tumour suppressor gene, is one of the most common dominantly inherited human disorders, affecting 1 in 3000 individuals worldwide. This book presents in concise fashion, but as comprehensively as possible, our current state of knowledge on the molecular genetics, molecular biology and cellular biology of this tumour predisposition syndrome. Written by internationally recognized experts in the field, the 44 chapters that constitute this edited volume provide the reader with a broad overview of the clinical features of the disease, the structure and expression of the NF1 gene, its germ line and somatic mutational spectra and genotype-phenotype relationships, the structure and function of its protein product (neurofibromin), NF1 modifying loci, the molecular pathology of NF1-associated tumours, animal models of the disease, psycho-social aspects and future prospects for therapeutic treatment.

Neurofibromatosis

Author : Bruce R. Korf
Publisher : Thieme
ISBN 13 : 1604065133
Total Pages : 268 pages
Book Rating : 4.6/5 (4 download)

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Book Synopsis Neurofibromatosis by : Bruce R. Korf

Download or read book Neurofibromatosis written by Bruce R. Korf and published by Thieme. This book was released on 2011-01-01 with total page 268 pages. Available in PDF, EPUB and Kindle. Book excerpt: Here is the state-of-the-art on recognizing, managing and living with neurofibromatosis (NF) for patients, families, and health care professionals. From new genetic and diagnostic advances, to associated cardiovascular and endocrine abnormalities, to the significant psychosocial impact of NF, the book is packed with clear, practical guidance for understanding and living with this disability.Special features: A complete diagnostic guide to help you recognize NF-related symptoms--with a timeline for when they might appear New treatment options for NF, including pain control Coverage of the newly discovered form of NF, schwannomatosis Personal perspectives from NF patients and their families Glossary that defines medical terminology With the great diagnostic and treatment advances achieved in the last decade, and research proceeding rapidly, the future for patients with NF has never been brighter. For all individuals living with the challenges of this disability, the book brings you to the forefront of medical knowledge. Make sure it is within close reach for fast and easy reference.

Thriving with Neurofibromatosis

Author : Kristi Hopkins
Publisher : CreateSpace
ISBN 13 : 9781456358693
Total Pages : 0 pages
Book Rating : 4.3/5 (586 download)

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Book Synopsis Thriving with Neurofibromatosis by : Kristi Hopkins

Download or read book Thriving with Neurofibromatosis written by Kristi Hopkins and published by CreateSpace. This book was released on 2010-12-02 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: 1 in 3000 people are born with Neurofibromatosis. It affects all of us in different ways. For some, Neurofibromatosis is as clear as the tumors on their face. For others, it hides beneath the surface, creating tumors that destroy hearing, vision, and more. Many of us are misdiagnosed, misunderstood, and often simply missed by a world of medicine that doesn't have a full grasp on all teh effects of NF. Stereotyped, ignored, or shunned by a world who thinks we either have the Elephant Man's disease, common migraines, or a few too many moles and birthmarks. In a society that values beauty so highly, NF'ers often choose to hide from others, and end up hiding from themselves. In 2007, Kristi chose to stop hiding, and start Thriving, as NF became a bigger part of my life than ever before, taking a firm grip on the health of three of my six children. Most people with NF, or any of a thousand other genetic disorders, focus on surviving from day to day. My kids deserve more than just to survive. And so do YOU. Thriving with Neurofibromatosis. We ALL have a story, this is mine.

Atlas of Inherited Retinal Diseases

Author : Stephen H. Tsang
Publisher : Springer
ISBN 13 : 3319950460
Total Pages : 262 pages
Book Rating : 4.3/5 (199 download)

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Book Synopsis Atlas of Inherited Retinal Diseases by : Stephen H. Tsang

Download or read book Atlas of Inherited Retinal Diseases written by Stephen H. Tsang and published by Springer. This book was released on 2018-12-21 with total page 262 pages. Available in PDF, EPUB and Kindle. Book excerpt: This Atlas of Inherited Retinal Disorders provides a thorough overview of various inherited retinal dystrophies with emphasis on phenotype characteristics and how they relate to the most frequently encountered genes. It also meets the previously unmet needs of PhD students who will benefit from seeing the phenotypes of genes they work on and study. Further, because genetic-testing costs are quite high and spiraling higher, this Atlas will help geneticists familiarize themselves with the candidate gene approach to test patients’ genomes, enabling more cost-efficient testing. This invaluable atlas is organized into eight sections starting with an introduction to the basic knowledge on retinal imaging, followed by diseases listed according to inheritance pattern and disorders with extraocular manifestations grouped by defining features. This structure will be intuitive to clinicians and students studying inherited retinal disorders.

Diagnosis of Musculoskeletal Tumors and Tumor-like Conditions

Author : Piero Picci
Publisher : Springer Nature
ISBN 13 : 3030296768
Total Pages : 346 pages
Book Rating : 4.0/5 (32 download)

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Book Synopsis Diagnosis of Musculoskeletal Tumors and Tumor-like Conditions by : Piero Picci

Download or read book Diagnosis of Musculoskeletal Tumors and Tumor-like Conditions written by Piero Picci and published by Springer Nature. This book was released on 2019-12-06 with total page 346 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book, now in a second revised edition, casts light on the often complex diagnosis of musculoskeletal tumors and tumor-like conditions by drawing on the experience of the Rizzoli Orthopedic Institute during more than 100 years of treatment and research in the field. The different entities are described from a multidisciplinary perspective, highlighting clinical, radiological, and histological correlations. Particular emphasis is placed on differential diagnosis, which often needs to take into account nontumoral conditions. The recent identification of further significant biological and genetic features, and the impact of these discoveries on the classification of round cell tumors, vascular lesions, and spindle/pleomorphic entities in bone, is also extensively discussed. The Rizzoli case archive dates back to September 1900 and contains the original material relating to more than 29,000 bone lesions and 11,000 soft tissue lesions. It is a fabulously rich resource, and this book will be invaluable for pathologists, radiologists, and clinicians at all levels of experience.

Neurology in Clinical Practice

Author : Walter George Bradley
Publisher :
ISBN 13 : 9780750674690
Total Pages : 1672 pages
Book Rating : 4.6/5 (746 download)

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Book Synopsis Neurology in Clinical Practice by : Walter George Bradley

Download or read book Neurology in Clinical Practice written by Walter George Bradley and published by . This book was released on 2004 with total page 1672 pages. Available in PDF, EPUB and Kindle. Book excerpt: New edition, completely rewritten, with new chapters on endovascular surgery and mitochrondrial and ion channel disorders.

Neurofibromatosis Type 1

Author : Richard G. Morgan
Publisher : Nova Science Publishers
ISBN 13 : 9781536196269
Total Pages : 0 pages
Book Rating : 4.1/5 (962 download)

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Book Synopsis Neurofibromatosis Type 1 by : Richard G. Morgan

Download or read book Neurofibromatosis Type 1 written by Richard G. Morgan and published by Nova Science Publishers. This book was released on 2021 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This monograph includes five chapters about neurofibromatosis type 1 (NF1), a condition characterised by changes in skin colouring and the growth of tumours along nerves in the skin, brain, and other parts of the body. Chapter One concerns the evolving molecular biology, targeted therapeutics, and neurocognitive deficits in neurofibromatosis type one. Chapter Two focuses on gastrointestinal stromal tumours and reviews the clinicopathologic features of these tumours and discusses differential diagnostic considerations. Chapter Three explores juvenile myelomonocytic leukaemia, a rare haematological malignancy of the paediatric population, and its association with NF1 and distinguishing features in this context. Chapter Four reviews molecular approaches for the diagnosis of NF1, from single-gene testing to next-generation sequencing of gene panels, with a focus on the issues of sensitivity and variant interpretations. Finally, Chapter Five focuses attention on focal cortical dysplasia that has been identified in the population of NF1 patients that have had coexistent hippocampal sclerosis.

Atlas of Pediatric Brain Tumors

Author : Adekunle M. Adesina
Publisher : Springer
ISBN 13 : 3319334328
Total Pages : 327 pages
Book Rating : 4.3/5 (193 download)

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Book Synopsis Atlas of Pediatric Brain Tumors by : Adekunle M. Adesina

Download or read book Atlas of Pediatric Brain Tumors written by Adekunle M. Adesina and published by Springer. This book was released on 2016-10-03 with total page 327 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Multidisciplinary Approach to Neurofibromatosis Type 1

Author : Gianluca Tadini
Publisher : Springer Nature
ISBN 13 : 3319924508
Total Pages : 316 pages
Book Rating : 4.3/5 (199 download)

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Book Synopsis Multidisciplinary Approach to Neurofibromatosis Type 1 by : Gianluca Tadini

Download or read book Multidisciplinary Approach to Neurofibromatosis Type 1 written by Gianluca Tadini and published by Springer Nature. This book was released on 2020-06-02 with total page 316 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume offers an update of the clinical signs, diagnostic criteria (including molecular diagnosis) and targeted therapies for a particular type of genodermatosis, providing a handy and unique tool for early diagnosis. In recent years, our understanding of genodermatosis and neurocutaneous syndromes has increased, but although Type 1 Neurofibromatosis (NF1) is the most common neuroectodermal disorder and involves a large number of patients and medical disciplines, this syndrome remains underestimated, often misdiagnosed thus leading to inaccurate treatment. The literature on the molecular and pathogenetic aspects is ample, but current clinical approaches, classification, diagnostic criteria and treatment protocols are outdated, creating difficulties in early diagnosis and treatment. As such, a chapter is devoted renewing current diagnostic criteria; it includes clinical and molecular data, to offer a sound, updated discussion basis for a consensus conference. NF1 is a “time-dependent” disorder, meaning that the onset of clinical signs are closely linked to patient age and the book discusses this particularly neglected aspect extensively, as well as the latest molecular diagnosis techniques, which are highly sensitive have not been included in the diagnostic criteria. It also explains the role of the RAS-MAPK pathway and genotype-phenotype correlations. In addition it explores new concepts concerning the pathogenesis of neurofibromas and other hamarthomas and their relevance for a modern therapeutical approach with targeted molecular drugs, as well as newly discovered aspects of NF1 in all internal organs, together with their diagnostic counterparts. A chapter on mosaic neurofibromatosis is also included. There is a particular focus on differential diagnosis (i.e. other diseases with café-au-lait macules), and the recently described Legius syndrome will be presented directly by Prof Eric Legius. All chapters are easy-to-understand, up-to-date, comprehensive and concise tools and are intended for a wide range of professionals involved with genetic disorders of the skin and neurocutaneous diseases: dermatologists, pediatricians, neurologists, oncologists and general practitioners.

Cassidy and Allanson's Management of Genetic Syndromes

Author : John C. Carey
Publisher : John Wiley & Sons
ISBN 13 : 1119432677
Total Pages : 1104 pages
Book Rating : 4.1/5 (194 download)

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Book Synopsis Cassidy and Allanson's Management of Genetic Syndromes by : John C. Carey

Download or read book Cassidy and Allanson's Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.

The Fight of My Life

Author : Ethan W. Brown
Publisher :
ISBN 13 : 9781632964267
Total Pages : 172 pages
Book Rating : 4.9/5 (642 download)

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Book Synopsis The Fight of My Life by : Ethan W. Brown

Download or read book The Fight of My Life written by Ethan W. Brown and published by . This book was released on 2021-01-05 with total page 172 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurofibromatosis is hard to say and even more difficult to live with, but Ethan Brown shows us how to find strength when faced with overwhelming odds. From Ethan's first signs of the disease, to surgeries, vision and hearing loss, his grappling with faith, and his decision for activism, The Fight of My Life: Persevering through Neurofibromatosis is a poignant true story of hope and determination. This narrative highlights the importance of faith, family, friendship, and positivity in the face of devastating illness.

Diagnostic Assessment and Treatment of Peripheral Nerve Tumors

Author : Fernando Guedes
Publisher : Springer Nature
ISBN 13 : 3030776336
Total Pages : 380 pages
Book Rating : 4.0/5 (37 download)

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Book Synopsis Diagnostic Assessment and Treatment of Peripheral Nerve Tumors by : Fernando Guedes

Download or read book Diagnostic Assessment and Treatment of Peripheral Nerve Tumors written by Fernando Guedes and published by Springer Nature. This book was released on 2021-08-24 with total page 380 pages. Available in PDF, EPUB and Kindle. Book excerpt: Tumors involving peripheral nerves may be extremely challenging lesions to diagnose and treat. In order to optimize their management, physicians should have a thorough knowledge of peripheral nerve anatomy and pathology (both gross and microscopic), as well as familiarity with microsurgical techniques and intraoperative neurophysiological recording. This compendium deals with all aspects of tumors affecting peripheral nerves, from diagnosis to treatment; the topics it addresses range from epidemiology, anatomy, physiology, pathology, and clinical diagnosis to electrophysiology, imaging, genetic/cytomolecular aspects. Surgical approaches, biopsies and resection of various benign, malignant and pseudo-tumoral lesions, plexus tumors (both brachial and lumbosacral), and adjunctive treatment modalities and pain-related issues are described in detail. The book is intended not only for neurosurgeons, hand surgeons, plastic and orthopedic surgeons new to the field, but also for seasoned specialists who wish to update their knowledge with new insights based on robust experimental and clinical material. In addition, it will be a helpful tool for general and oncological surgeons who are sometimes faced with the treatment of mass lesions that may be potential nerve tumors, and for all practitioners who are engaged in the arduous struggle to bring relief to patients affected by these lesions.

A Clinical, Pathological, and Genetic Study of Multiple Neurofibromatosis

Author : Frank W. Crowe
Publisher :
ISBN 13 :
Total Pages : 200 pages
Book Rating : 4.:/5 (319 download)

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Book Synopsis A Clinical, Pathological, and Genetic Study of Multiple Neurofibromatosis by : Frank W. Crowe

Download or read book A Clinical, Pathological, and Genetic Study of Multiple Neurofibromatosis written by Frank W. Crowe and published by . This book was released on 1956 with total page 200 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Neurofibromatoses in Clinical Practice

Author : Rosalie E Ferner
Publisher : Springer Science & Business Media
ISBN 13 : 0857296299
Total Pages : 178 pages
Book Rating : 4.8/5 (572 download)

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Book Synopsis Neurofibromatoses in Clinical Practice by : Rosalie E Ferner

Download or read book Neurofibromatoses in Clinical Practice written by Rosalie E Ferner and published by Springer Science & Business Media. This book was released on 2011-09-05 with total page 178 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurofibromatoses in Clinical Practice provides a succinct, accessible guide to the neurofibromatoses including diagnosis, management protocols and indications for referral to specialist centers. Neurocutaneous diseases are complex to diagnose and treat and many patients require specialist multidisciplinary management and surveillance. Due to multiple disease manifestations, patients can present to different clinicians without specialist expertise - general practitioners, pediatricians, neurologists, geneticists, surgeons and ophthalmologists. The clinically focused format will enable rapid consultation during clinics, facilitate disease pattern recognition, and indicate care pathways. The clinical quiz highlights common pitfalls in diagnosis and management and a glossary and reference section provide details for access to specialist NF clinics throughout the UK and internationally. Written by experts in the field Neurofibromatoses in Clinical Practice is a succinct and practical guide for consultants in training and practice, general practitioners and specialist nurses.

Living with Genetic Disorder

Author : Joan Ablon
Publisher : Praeger
ISBN 13 : 0865692874
Total Pages : 0 pages
Book Rating : 4.8/5 (656 download)

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Book Synopsis Living with Genetic Disorder by : Joan Ablon

Download or read book Living with Genetic Disorder written by Joan Ablon and published by Praeger. This book was released on 1999-08-30 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: A chronicle of the life experiences of adults with neurofibromatosis 1, a neurological genetic condition for many years misdiagnosed as "The Elephant Man's Disease." Affected persons deal with an unpredictable and potentially stigmatizing disorder, the symptoms of which range from physical disfigurement to severe learning disorders. Ablon offers suggestions for families, support systems, and health care providers to enhance coping skills and self image of the affected persons.

Ferri's Clinical Advisor 2021

Author : Fred F. Ferri
Publisher : Elsevier Health Sciences
ISBN 13 : 0323713343
Total Pages : 4158 pages
Book Rating : 4.3/5 (237 download)

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Book Synopsis Ferri's Clinical Advisor 2021 by : Fred F. Ferri

Download or read book Ferri's Clinical Advisor 2021 written by Fred F. Ferri and published by Elsevier Health Sciences. This book was released on 2020-06-10 with total page 4158 pages. Available in PDF, EPUB and Kindle. Book excerpt: Find fast answers to inform your daily diagnosis and treatment decisions! Ferri’s Clinical Advisor 2021 uses the popular "5 books in 1" format to deliver vast amounts of information in a clinically relevant, user-friendly manner. This bestselling reference has been significantly updated to provide you with easy access to answers on 1,000 common medical conditions, including diseases and disorders, differential diagnoses, clinical algorithms, laboratory tests, and clinical practice guidelines—all carefully reviewed by experts in key clinical fields. Extensive algorithms, along with hundreds of new figures and tables, ensure that you stay current with today's medical practice. Contains significant updates throughout, covering all aspects of current diagnosis and treatment. Features 27 all-new topics including chronic rhinosinusitis, subclinical brain infarction, reflux-cough syndrome, radiation pneumonitis, catatonia, end-stage renal disease, and genitourinary syndrome of menopause, among others. Includes new appendices covering common herbs in integrated medicine and herbal activities against pain and chronic diseases; palliative care; and preoperative evaluation. Offers online access to Patient Teaching Guides in both English and Spanish.

Kirsty's Story

Author : Kirsty Ashton
Publisher :
ISBN 13 : 9781456770471
Total Pages : 264 pages
Book Rating : 4.7/5 (74 download)

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Book Synopsis Kirsty's Story by : Kirsty Ashton

Download or read book Kirsty's Story written by Kirsty Ashton and published by . This book was released on 2011-01 with total page 264 pages. Available in PDF, EPUB and Kindle. Book excerpt: In 1998 Kirsty was enjoying weekly swimming lessons; and she had also joined the same dance school as her brother (Christopher). Chris had been having dance lessons for a few years and Kirsty wanted to dance on a stage like her brother and was looking forward to her next stage show. Ten years on and Kirsty can no longer dance or swim as well as she could when she was eight years old. She had to give it all up due to being in so much pain. She depends on elbow crutches and use's a power scooter when out shopping and needs help with some of her everyday needs. Kirsty's story tells how and why her life changed due to the problems caused by Neurofibromatosis and Scoliosis. And how she's managed to overcome any obstacles put in her way. When Kirsty was 11 weeks old she was diagnosed with Neurofibromatosis (NF1), which caused no problems until she was eight years old when she was also diagnosed with scoliosis. She now lives a very different, but full life, where she is surrounded by her family and a large group of friends, some of whom have made a contribution to this book with their own thoughts. Kirsty's story is a remarkable one. Physically she remains weakened by her condition but her personality and character remains undamaged.