Muscular and Skeletal Anomalies in Human Trisomy in an Evo-Devo Context


Book Description

This book focuses on human anatomy and medicine and specifically on both muscular and skeletal birth defects in humans with trisomy. Moreover, this book also deals with Down syndrome, which is one of the most studied human syndromes and, due to its high incidence and the fact that individuals with this syndrome often live until adulthood, is of spe




Advances in Human Genetics


Book Description







Comparative Anatomy and Phylogeny of Primate Muscles and Human Evolution


Book Description

This book challenges the assumption that morphological data are inherently unsuitable for phylogeny reconstruction, argues that both molecular and morphological phylogenies should play a major role in systematics, and provides the most comprehensive review of the comparative anatomy, homologies and evolution of the head, neck, pectoral and upper limb muscles of primates. Chapters 1 and 2 provide an introduction to the main aims and methodology of the book. Chapters 3 and 4 and Appendices I and II present the data obtained from dissections of the head, neck, pectoral and upper limb muscles of representative members of all the major primate groups including modern humans, and compare these data with the information available in the literature. Appendices I and II provide detailed textual (attachments, innervation, function, variations and synonyms) and visual (high quality photographs) information about each muscle for the primate taxa included in the cladistic study of Chapter 3, thus providing the first comprehensive and up to date overview of the comparative anatomy of the head, neck, pectoral and upper limb muscles of primates. The most parsimonious tree obtained from the cladistic analysis of 166 head, neck, pectoral and upper limb muscle characters in 18 primate genera, and in representatives of the Scandentia, Dermoptera and Rodentia, is fully congruent with the evolutionary molecular tree of Primates, thus supporting the idea that muscle characters are particularly useful to infer phylogenies. The combined anatomical materials provided in this book point out that modern humans have fewer head, neck, pectoral and upper limb muscles than most other living primates, but are consistent with the proposal that facial and vocal communication and specialized thumb movements have probably played an important role in recent human evolution. This book will be of interest to primatologists, comparative anatomists, functional morphologists, zoologists, physical anthropologists, and systematicians, as well as to medical students, physicians and researchers interested in understanding the origin, evolution, homology and variations of the muscles of modern humans. Contains 132 color plates.










Cassidy and Allanson's Management of Genetic Syndromes


Book Description

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.







Handbook of Muscle Variations and Anomalies in Humans


Book Description

Most textbooks and atlases of human anatomy chronicle only a few cases of muscle variations in the "normal" human population, or of muscle anomalies within congenital malformations. Consequently, there is a misconception of what is considered "normal" human anatomy and what that looks like. Each person within the "normal" population has at least a few muscle variations, and there are millions of individuals born globally each year with muscle anomalies. There are crucial knowledge gaps between what is taught, what students learn, what textbooks and atlases show, and what truly happens in nature and within our species. This handbook fills this gap by: 1) providing a comparative evolutionary context for muscle variations and defects in humans, 2) summarizing the major types of variations and anomalies found in humans, and 3) including didactic figures for a visually engaging learning experience. This book is of interest to students, professors, and researchers in biological anthropology, comparative anatomy, functional morphology, zoology, and evolutionary and developmental biology, as well as to clinicians and practicing health professionals. Key Features Summarizes most recorded variations and anomalies for each muscle in the human body Provides information on the comparative anatomy of each muscle, including evolutionary differences from our closest living relatives, the apes Includes didactic illustrations of the variations and anomalies for a visually engaging learning experience Comprehensively reviews literature to document prevalence information for each variation and anomaly, within humans Related Titles Brown, D. E. Human Biological Diversity, 2nd ed. (ISBN 978-1-138-03753-3) Diogo, R., et al. Understanding Human Anatomy and Pathology: An Evolutionary and Developmental Guide for Medical Students (ISBN 978-1-4987-5384-5) Diogo, R. Muscles of Chordates: Development, Homologies, and Evolution (ISBN 978-1-138-57116-7)




Regulation of Cell Proliferation and Differentiation


Book Description

In 1974 The National Institute on Aging established a somatic cell genetic resource for aging research at the Institute for Medical Research in Camden, New Jersey. Within this program there is a yearly workshop to promote theory and concept develop ment in aging research with the specific purpose of addressing the use of genetically marked cells for aging research and to stimulate interest in aging research by workers in a variety of disciplines. This monograph, The Regulation of Cell Proliferation and Differentiation, is the result of the first workshop held May 15-17, 1975. The concept of the workshop was to consider two main areas: First, a discussion of clinical syndromes expressing as a major manifestation excessive growth, deficient growth or failure to thrive; and second, to present work in cellular and molecular biology on a model system suitable for in vitro study of regulation of cell proliferation and diff2rentiation. The model selected for this was skeletal muscle. It has been widely accepted that normal somatic cells from individual human donors display limited replicative lifespans when cultivated in vitro (1,2). That such "clonal senescence" may be related to in vivo aging is suggested by observations relating the replicative lifespans of cultures to donor age (3-5,13) donor genotype (4-7) and donor's tissue of origin (5,8). A variety of theories have been developed to explain in vitro clonal senescence (9).