Neurofibromatosis Type 1

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Author :
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.

Atlas of Inherited Retinal Diseases

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Publisher : Springer
ISBN 13 : 3319950460
Total Pages : 274 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 274 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.

Neurofibromatosis

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Author :
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.

Diagnosis of Musculoskeletal Tumors and Tumor-like Conditions

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Author :
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

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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.

Atlas of Pediatric Brain Tumors

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Author :
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

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Author :
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.

Neurofibromatosis Type 1 in Childhood

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Author :
Publisher : Cambridge University Press
ISBN 13 : 9781898683131
Total Pages : 146 pages
Book Rating : 4.6/5 (831 download)

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Book Synopsis Neurofibromatosis Type 1 in Childhood by : Kathryn North

Download or read book Neurofibromatosis Type 1 in Childhood written by Kathryn North and published by Cambridge University Press. This book was released on 1997-01-30 with total page 146 pages. Available in PDF, EPUB and Kindle. Book excerpt: A thoughtful and clinically valuable account which will aid both treatment of and research into this difficult disorder.

Anatomy and Exposures of Spinal Nerves

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Publisher : Springer
ISBN 13 : 3319145207
Total Pages : 127 pages
Book Rating : 4.3/5 (191 download)

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Book Synopsis Anatomy and Exposures of Spinal Nerves by : Amgad S. Hanna

Download or read book Anatomy and Exposures of Spinal Nerves written by Amgad S. Hanna and published by Springer. This book was released on 2015-04-23 with total page 127 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is a comprehensive illustrated surgical guide to operative exposures of the spinal nerves, also known as peripheral nerves. Each chapter is devoted to a particular nerve and describes the origin, anatomic relations, branches, surgical approaches, and clinical significance. The text is concise and easy to read and is complemented by informative color photos from cadaveric dissections and surgical procedures. A separate chapter on technical notes identifies surgical pearls relating to techniques such as nerve suturing and nerve transfers. Importantly, unlike other peripheral nerve atlases, this book is accompanied by videos of different approaches. The book will be especially valuable for residents and fellows in training and candidates for oral board and MOC examinations. It is also designed to provide a quick illustrated review for surgeons unfamiliar with a procedure. Most videos are less than 5 minutes long, and it should take less than 10 minutes to review each approach, including watching the video. Anatomy and Exposures of Spinal Nerves will effectively fill a gap caused by the absence of a peripheral nerve surgeon from many neurosurgery training programs.

Diagnostic Assessment and Treatment of Peripheral Nerve Tumors

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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.

Cassidy and Allanson's Management of Genetic Syndromes

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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 Neurofibromatoses

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Author :
Publisher :
ISBN 13 :
Total Pages : 12 pages
Book Rating : 4.:/5 (319 download)

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Book Synopsis The Neurofibromatoses by :

Download or read book The Neurofibromatoses written by and published by . This book was released on 1995 with total page 12 pages. Available in PDF, EPUB and Kindle. Book excerpt:

The Molecular Biology of Neurofibromatosis Type 1

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Author :
Publisher : Biota Publishing
ISBN 13 : 1615046453
Total Pages : 81 pages
Book Rating : 4.6/5 (15 download)

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Book Synopsis The Molecular Biology of Neurofibromatosis Type 1 by : Meena Upadhyaya

Download or read book The Molecular Biology of Neurofibromatosis Type 1 written by Meena Upadhyaya and published by Biota Publishing. This book was released on 2014-02-01 with total page 81 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurofibromatosis type 1 (NF1) is a common autosomal dominantly inherited, tumour predisposition syndrome affecting 1/3,000-4,000 individuals worldwide. This inherited disorder results from the mutational inactivation of the NF1 gene on human chromosome 17. The NF1 gene contains 61 exons that give rise to 12kb mRNA encoding neurofibromin. The 327kDa (2,818 amino acid) neurofibromin protein is expressed in most tissues and has a number of alternative isoforms. Neurofibromin is a tumour suppressor protein and down-regulates cellular Ras. Increased active Ras-GTP levels also stimulate the important PI3K/AKT/mTOR signalling pathway that protects cells from apoptosis. The major clinical featues of NF1 include multiple café-au-lait macules, skinfold freckles, iris Lisch nodules, and neurofibromas. The diagnostic criteria for clinical diagnosis have been well established. However, there are a small number of cases in which the diagnosis is not certain. The germline mutation rate for the NF1 gene is 10-fold higher than that observed for most other inherited diseases. Using a combination of different techniques, almost 95% of germline mutations can be detected. To date, only two firm genotype phenotype correlations have been reported. NF1 phenotype exhibits large variations within a family, evidence for modifying loci regulating the expression of an NF1 gene is beginning to emerge. We also are gaining knowledge on the molecular mechanisms associated with the development of different types of tumours. It is encouraging that the results of recent laboratory and clinical research are finally being translated into clinical trials. With the availability of high-throughput technologies, sophisticated animal models, and multi-centre clinical trials, the future for NF1 sufferers is looking optimistic. This book aims to provide an overview of the genetic and clinical aspects of NF1 and its role in both NF1-associated and sporadic tumour development. It emphasizes the recent developments in this field and some of the promising on-going clinical trials.

Neurofibromatosis

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Publisher :
ISBN 13 :
Total Pages : 344 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Neurofibromatosis by : Vincent M. Riccardi

Download or read book Neurofibromatosis written by Vincent M. Riccardi and published by . This book was released on 1986 with total page 344 pages. Available in PDF, EPUB and Kindle. Book excerpt: A comprehensive review of the clinical and genetic aspects of a disease that affects over one million people worldwide, based on the cumulative experience of the longest continuously functioning program of its kind (Riccardi directs The Neurofibromatosis Institute, Pasadena, California--his vantage point is that of an accumulated 3,700 patient-years of direct observation and follow-up of patients with NF, and a total of 22,900 patient-years, counting from the time of birth until either death or January 1991). Thoroughly revised and updated (first edition, 1986) to include the latest advances in molecular biology and methods of treatment, and contains a glossary and extensive bibliography (well over 1,000 citations). Annotation copyrighted by Book News, Inc., Portland, OR

Ferri's Clinical Advisor 2021

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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.

Neurofibromatoses in Clinical Practice

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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.

A Clinical, Pathological, and Genetic Study of Multiple Neurofibromatosis

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Author :
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: