Mosaicism in Human Skin

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Author :
Publisher : Springer Nature
ISBN 13 : 3030899373
Total Pages : 252 pages
Book Rating : 4.0/5 (38 download)

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Book Synopsis Mosaicism in Human Skin by : Rudolf Happle

Download or read book Mosaicism in Human Skin written by Rudolf Happle and published by Springer Nature. This book was released on 2022-11-24 with total page 252 pages. Available in PDF, EPUB and Kindle. Book excerpt: This second edition offers a fully revised and updated work on a rapidly growing field of knowledge, and was prepared by two experts whose goal was to explain the molecular basis of mosaic skin disorders in a language that is accessible for practicing physicians and medical students alike. It presents a timely and comprehensive overview of the strikingly manifold patterns and peculiarities of mosaic skin disorders in a straightforward, reader-friendly way that will help physicians to further improve genetic counseling and treatment outcomes. The first two parts of the book are devoted to the mechanisms and patterns of cutaneous mosaicism, and include an explanation of genomic and epigenetic mosaicism and a description of the archetypical segmental patterns including the lines of Blaschko and the flag-like, phylloid and lateralization pattern, the non-segmental pattern of large congenital melanocytic nevi, and the sash-like arrangement as noted in a particular type of cutis tricolor. The concept of lethal mutations surviving as mosaics has now been confirmed by molecular analysis in many sporadically occurring phenotypes. The difference between monoallelic and biallelic traits has deepened our understanding of hereditary mosaics, especially of multiple benign skin tumors. Moreover, recognition of the fundamental difference between the simple segmental and the superimposed types of mosaicism is important for the purpose of genetic counseling. In the third part, the various mosaic skin disorders are examined in depth, including nevi, didymotic disorders, other binary genodermatoses, mosaic manifestations of autosomal skin disorders, and nevoid skin disorders such as phenotypes reflecting functional X-chromosome mosaicism or a superimposed mosaic manifestation of common skin diseases with a polygenic background. Reader-friendly and clearly structured, Mosaicism in Human Skin will appeal to both experienced dermatologists and residents in training, as well as to medical geneticists and pediatricians.

Mosaicism in Human Skin

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Author :
Publisher : Springer
ISBN 13 : 9783642387661
Total Pages : 229 pages
Book Rating : 4.3/5 (876 download)

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Book Synopsis Mosaicism in Human Skin by : Rudolf Happle

Download or read book Mosaicism in Human Skin written by Rudolf Happle and published by Springer. This book was released on 2013-11-30 with total page 229 pages. Available in PDF, EPUB and Kindle. Book excerpt: Mosaicism is a powerful biologic concept, originally developed from studying plants and animals. All cutaneous neoplasms, both benign and malignant, reflect mosaicism, which is the necessary basis to explain numerous human skin disorders. For example, various mosaic patterns visualize the embryonic development of human skin and X-linked skin disorders explain why women live longer than men, and so on. This book presents, for the first time, a comprehensive overview on the strikingly manifold patterns and peculiarities of mosaic skin disorders. This reader-friendly structured and straightforward publication will help the dermatologist to understand the underlying molecular mechanisms of skin disorders in order to further improve the treatment outcome.

Braun-Falco ́s Dermatology

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Author :
Publisher : Springer
ISBN 13 : 9783540293163
Total Pages : 0 pages
Book Rating : 4.2/5 (931 download)

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Book Synopsis Braun-Falco ́s Dermatology by : Walter H.C. Burgdorf

Download or read book Braun-Falco ́s Dermatology written by Walter H.C. Burgdorf and published by Springer. This book was released on 2009 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Also the 3rd edition of "Dermatology" covers all the classical and related fields of dermatology, providing a wealth of information on diagnostic methods, clinical features, pathophysiology, and differential diagnosis. About 950 excellent photos and diagrams help the reader become acquainted with the immense variety of dermatological diseases. The contents of all chapters have been updated. New chapters have been included covering numerous subjects, e.g. dermatopathology, sonography, disorders of chromosomal instability and defective DNA repair, aging skin, sport dermatology, aesthetic therapy. The book is a must for every doctor confronted with dermatological problems.

Cytogenomics

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Publisher : Academic Press
ISBN 13 : 0128235802
Total Pages : 430 pages
Book Rating : 4.1/5 (282 download)

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Book Synopsis Cytogenomics by : Thomas Liehr

Download or read book Cytogenomics written by Thomas Liehr and published by Academic Press. This book was released on 2021-05-25 with total page 430 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cytogenomics demonstrates that chromosomes are crucial in understanding the human genome and that new high-throughput approaches are central to advancing cytogenetics in the 21st century. After an introduction to (molecular) cytogenetics, being the basic of all cytogenomic research, this book highlights the strengths and newfound advantages of cytogenomic research methods and technologies, enabling researchers to jump-start their own projects and more effectively gather and interpret chromosomal data. Methods discussed include banding and molecular cytogenetics, molecular combing, molecular karyotyping, next-generation sequencing, epigenetic study approaches, optical mapping/karyomapping, and CRISPR-cas9 applications for cytogenomics. The book’s second half demonstrates recent applications of cytogenomic techniques, such as characterizing 3D chromosome structure across different tissue types and insights into multilayer organization of chromosomes, role of repetitive elements and noncoding RNAs in human genome, studies in topologically associated domains, interchromosomal interactions, and chromoanagenesis. This book is an important reference source for researchers, students, basic and translational scientists, and clinicians in the areas of human genetics, genomics, reproductive medicine, gynecology, obstetrics, internal medicine, oncology, bioinformatics, medical genetics, and prenatal testing, as well as genetic counselors, clinical laboratory geneticists, bioethicists, and fertility specialists. Offers applied approaches empowering a new generation of cytogenomic research using a balanced combination of classical and advanced technologies Provides a framework for interpreting chromosome structure and how this affects the functioning of the genome in health and disease Features chapter contributions from international leaders in the field

Pediatric Skin of Color

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Author :
Publisher : Springer
ISBN 13 : 1461466547
Total Pages : 451 pages
Book Rating : 4.4/5 (614 download)

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Book Synopsis Pediatric Skin of Color by : Nanette B. Silverberg

Download or read book Pediatric Skin of Color written by Nanette B. Silverberg and published by Springer. This book was released on 2015-03-05 with total page 451 pages. Available in PDF, EPUB and Kindle. Book excerpt: ​Pediatric Skin of Color is the first textbook devoted to the issues of pediatric skin of color. In 2052, more than fifty percent of the United States will be of color, and currently seventy percent of the world's population is termed of color. Therefore, this book fills the need for an instructional and educational referebce work regarding these populations. Pediatric Skin of Color​ discusses the biology and clinical data regarding normal skin, skin conditions exclusive to individuals of color, systemic diseases of individuals of color that have a strong component of skin involvement, and the appearance and demographics of common skin diseases, comparing Caucasian and all skin of color populations. Written for dermatologists and pediatric dermatologists, this text includes data on African American, Asian (Southeast and East), Hispanic/Latino, and Middle Eastern patients, as well as Indigenous populations (i.e. Native Americans, Aborigines).

Catalogue of Unbalanced Chromosome Aberrations in Man

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Author :
Publisher : Walter de Gruyter GmbH & Co KG
ISBN 13 : 311232904X
Total Pages : 936 pages
Book Rating : 4.1/5 (123 download)

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Book Synopsis Catalogue of Unbalanced Chromosome Aberrations in Man by : Albert Schinzel

Download or read book Catalogue of Unbalanced Chromosome Aberrations in Man written by Albert Schinzel and published by Walter de Gruyter GmbH & Co KG. This book was released on 2020-10-26 with total page 936 pages. Available in PDF, EPUB and Kindle. Book excerpt: No detailed description available for "Catalogue of Unbalanced Chromosome Aberrations in Man".

Disorders of Voluntary Muscle

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Publisher : Cambridge University Press
ISBN 13 : 9780521650625
Total Pages : 800 pages
Book Rating : 4.6/5 (56 download)

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Book Synopsis Disorders of Voluntary Muscle by : George Karpati

Download or read book Disorders of Voluntary Muscle written by George Karpati and published by Cambridge University Press. This book was released on 2001-07-12 with total page 800 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rewritten and redesigned, this remains the one essential text on the diseases of skeletal muscle.

Biodynamic Excisional Skin Tension Lines for Cutaneous Surgery

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Author :
Publisher : Springer
ISBN 13 : 3319714953
Total Pages : 198 pages
Book Rating : 4.3/5 (197 download)

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Book Synopsis Biodynamic Excisional Skin Tension Lines for Cutaneous Surgery by : Sharad P. Paul

Download or read book Biodynamic Excisional Skin Tension Lines for Cutaneous Surgery written by Sharad P. Paul and published by Springer. This book was released on 2018-05-02 with total page 198 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is a detailed review of the ‘state-of-the art’ of skin lines in cutaneous surgery. Surgical literature is inundated with references to Langer’s Lines, Cleavage Lines, Wrinkle Lines and Relaxed Skin Tension Lines, but this title discusses the difference between these and incisional and excisional lines biomechanically, introducing the concept of biodynamic excisional skin tension (BEST) Lines. The problem with current concepts of skin tension lines is that they seem to differ in different textbooks, and lines for surgical egress, which work in conditions of low tension, are not necessarily suitable for skin cancer surgery. Biodynamic Excisional Skin Tension Lines for Cutaneous Surgery describes skin biomechanics, the properties of collagen and elastin, lower limb skin vascularity and also maps BEST lines across the body, making it a great reference guide for plastic or dermatologic surgery worldwide. As such, it will be beneficial for anyone performing cutaneous surgery and skin cancer excisions in clinical practice, or for those planning further research into skin biomechanics to read this volume.

Two Faces of Evil: Cancer and Neurodegeneration

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Author :
Publisher : Springer
ISBN 13 : 9783642267710
Total Pages : 166 pages
Book Rating : 4.2/5 (677 download)

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Book Synopsis Two Faces of Evil: Cancer and Neurodegeneration by : Thomas Curran

Download or read book Two Faces of Evil: Cancer and Neurodegeneration written by Thomas Curran and published by Springer. This book was released on 2013-05-29 with total page 166 pages. Available in PDF, EPUB and Kindle. Book excerpt: Homeostasis involves a delicate interplay between generative and degenerative processes to maintain a stable internal environment. In biological systems, equilibrium is established and controlled through a series of negative feedback mechanisms driven by a range of signal transduction processes. Failures in these complex communication pathways result in instability leading to disease. Cancer represents a state of imbalance caused by an excess of cell proliferation. In contrast, neurodegeneration is a consequence of excessive cell loss in the nervous system. Both of these disorders exhort profound tolls on humanity and they have been subject to a great deal of research designed to ameliorate this suffering. For the most part, the topics have been viewed as distinct and rarely do opportunities arise for transdisciplinary discussions among experts in both fields. However, cancer and neurodegeneration represent yin-yang counterpoints in the regulation of cell growth, and it is reasonable to hypothesize that key regulatory events mediated by oncogenes and tumor suppressor genes in cancer may also affect neurodegenerative processes

Reproductive Genetics

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Author :
Publisher : RCOG
ISBN 13 : 1906985162
Total Pages : 245 pages
Book Rating : 4.9/5 (69 download)

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Book Synopsis Reproductive Genetics by : Sean Kehoe

Download or read book Reproductive Genetics written by Sean Kehoe and published by RCOG. This book was released on 2009-11 with total page 245 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents the findings of the RCOG Study Group findings on genetics underlying reproductive function.

Neurocutaneous Disorders

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Publisher : Springer Science & Business Media
ISBN 13 : 3211695001
Total Pages : 1052 pages
Book Rating : 4.2/5 (116 download)

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Book Synopsis Neurocutaneous Disorders by : Martino Ruggieri

Download or read book Neurocutaneous Disorders written by Martino Ruggieri and published by Springer Science & Business Media. This book was released on 2009-10-01 with total page 1052 pages. Available in PDF, EPUB and Kindle. Book excerpt: The book provides an authoritative source of knowledge about these problematic disorders. It bridges the gap between clinical recognition and the new molecular medicine. The editors, distinguished clinicians and geneticists, assembled an internationally renowned group of collaborators, many of them the experts who first described a particular disorder or established its present accepted definition. They have written a practical, comprehensive guide to the recognition, investigation and management of more than 60 recognised phakomatoses.

Immunopharmacology and Inflammation

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Publisher : Springer
ISBN 13 : 3319776584
Total Pages : 330 pages
Book Rating : 4.3/5 (197 download)

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Book Synopsis Immunopharmacology and Inflammation by : Carlo Riccardi

Download or read book Immunopharmacology and Inflammation written by Carlo Riccardi and published by Springer. This book was released on 2018-06-09 with total page 330 pages. Available in PDF, EPUB and Kindle. Book excerpt: A comprehensive overview of the current research on inflammation and immunopharmacology, with particular attention to the use of anti-inflammatory drugs, this book discusses future trends in this area of pharmacological research. It addresses an audience with basic knowledge in the inflammatory process, immune system and pharmacology. The book meets the needs of graduate students, junior and senior researchers and is useful as a source of the most current information for those already working in these fields.

Multidisciplinary Approach to Neurofibromatosis Type 1

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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.

Stem Cells

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Publisher : Springer Nature
ISBN 13 : 3030312062
Total Pages : 410 pages
Book Rating : 4.0/5 (33 download)

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Book Synopsis Stem Cells by : Mariusz Z. Ratajczak

Download or read book Stem Cells written by Mariusz Z. Ratajczak and published by Springer Nature. This book was released on 2020-01-02 with total page 410 pages. Available in PDF, EPUB and Kindle. Book excerpt: Since different types of stem cells for therapeutic applications have recently been proposed, this timely volume explores various sources of stem cells for tissue and organ regeneration and discusses their advantages and limitations. Also discussed are pros and cons for using embryonic stem cells, induced pluripotent stem cells, and adult stem cells isolated from postnatal tissues. Different types of adult stem cells for therapeutic applications are also reviewed, including hematopoietic stem cells, epidermal stem cells, endothelial progenitors, neural stem cells, mesenchymal stem cells, and very small embryonic-like stem cells. This book also addresses paracrine effects of stem cells in regenerative medicine that are mediated by extracellular microvesicles and soluble secretome. Finally, potential applications of stem cells in cardiology, gastroenterology, neurology, immunotherapy, and aging are presented. This is an ideal book for students and researchers working in the stem cell research field.

Gynaecology by Ten Teachers

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Publisher : CRC Press
ISBN 13 : 1498744435
Total Pages : 541 pages
Book Rating : 4.4/5 (987 download)

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Book Synopsis Gynaecology by Ten Teachers by : Louise C Kenny

Download or read book Gynaecology by Ten Teachers written by Louise C Kenny and published by CRC Press. This book was released on 2017-05-08 with total page 541 pages. Available in PDF, EPUB and Kindle. Book excerpt: First published in 1919 as 'Diseases of Women', Gynaecology by Ten Teachers is well established as a concise, yet comprehensive, guide. The twentieth edition has been thoroughly updated by a new team of 'teachers', integrating clinical material with the latest scientific developments that underpin patient care. Each chapter is highly structured, with learning objectives, definitions, aetiology, clinical features, investigations, treatments, case histories and key point summaries and additional reading where appropriate. New themes for this edition include 'professionalism' and 'global health' and information specific to both areas is threaded throughout the text.

Gamete and Embryo-fetal Origins of Adult Diseases

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Author :
Publisher : Springer Science & Business Media
ISBN 13 : 9400777728
Total Pages : 229 pages
Book Rating : 4.4/5 (7 download)

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Book Synopsis Gamete and Embryo-fetal Origins of Adult Diseases by : He-Feng Huang

Download or read book Gamete and Embryo-fetal Origins of Adult Diseases written by He-Feng Huang and published by Springer Science & Business Media. This book was released on 2013-11-19 with total page 229 pages. Available in PDF, EPUB and Kindle. Book excerpt: The book Gamete and Embryo-fetal Origins of Adult Diseases introduces various diseases resulting from the abnormal gametogenesis and embryo development, which manifests as growth retardation, birth defects, or increased susceptibility to chronic metabolic diseases such as diabetes, cardiovascular disease and cancer in childhood and adult life, even fertility disorders and the risk of transgenerational transmission. Six common kinds of these diseases are discussed in separate chapters. The authors explore the connections between these diseases and epigenetic reprogramming, rapid cell differentiation and organ formation and environmental influences, including assisted reproductive technology and adverse intrauterine environments. With a summary of findings on the causes and progression of adult diseases at the phase of gametogenesis and embryo development, this book provides insights into the pathogenesis of disease and aids in the treatment and prevention of disease, meeting the requirement for improving the quality of the newborn population, and effectively preventing and curing major diseases at an early stage. This book offers new perspectives and will be an enlightening resource for obstetricians, paediatricians, epidemiologists, endocrinologists and sanitarians. Editor He-Feng Huang, M.D., is Professor and President of Women’s Hospital, School of Medicine, Zhejiang University, China. Editor Jian-Zhong Sheng, Ph.D., is Professor at the Department of Pathology & Pathophysiology, School of Medicine, Zhejiang University, China.

Genoderms Made Ludicrously Easy

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Publisher : Sanovaworks/Jdd
ISBN 13 : 9780991191987
Total Pages : 186 pages
Book Rating : 4.1/5 (919 download)

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Book Synopsis Genoderms Made Ludicrously Easy by : Michael Payette

Download or read book Genoderms Made Ludicrously Easy written by Michael Payette and published by Sanovaworks/Jdd. This book was released on 2019-01-10 with total page 186 pages. Available in PDF, EPUB and Kindle. Book excerpt: Retail Book