During the past two decades, our understanding of the molecular genetics of inherited eye diseases, their classification, and management has undergone a huge expansion as the field of human genetics has benefited from technological advances and increased interest by physicians and scientists in all fields. As a result, the amount of clinical and basic-science information on inherited systemic and eye diseases has become so large that general ophthalmologists, ophthalmic subspecialists, and physicians in other fields have found it difficult to keep up. This volume will act as a guide because it catalogues all the latest information about genetic diseases that involve the eye and presents it in a practical and accessible format. After an introductory chapter that reviews basic clinical and molecular-genetic principles, individual diseases and groups of diseases are listed alphabetically in order to make it as easy as possible to search for an entry. The material in each entry is a synthesis of numerous articles and reviews on the topic, accompanied by at least one high-quality illustration, at least one webpage of a patient support group or other organization related to the disease, and references that provide the original description of the disease, an excellent review, or useful illustrations. There is also a companion website containing electronic copies of all the illustrations to make it easy to use them in lectures. Health-care professionals who need immediate access to clinical and basic-science information on inherited systemic and eye diseases will find this volume indispensable.

This book provides a concise set of protocols for assessing basic neutrophil functions, investigating specialized areas in neutrophil research, and completing step-by-step diagnostic assays of common neutrophil disorders. Each of the protocols is written by leading researchers in the field and includes hints for success, as well as guidance for troubleshooting. Scientists and clinicians will find this collection an invaluable aid.

This book contains a collection of papers that were presented at the IUTAM Symposium on Mechanics of Biological Tissue, which was held in Graz, A- tria,fromJune27toJuly2,2004.ThesettingofGrazwasveryappropriatefor the symposium since it is the city where such illustriousscientistsasJohannes Kepler, Ernst Mach, Ludwig Boltzmann, Erwin Schr. odinger and Otto Kratky spent parts of their lives, while the cultural life of Graz provided ample - portunity for complementing the scienti?c proceedings. Graz has an historic centre, which is one of the best preserved old town centres in Europe, and which was added to the UNESCO world cultural heritage list in 1999. Thesymposiumbroughttogether96participantsfromuniversities,research centres and clinics in 19 countries. There were 42 oral presentations, incl- ing 7 keynote lectures, and 15 poster presentations. The keynote lectures were given by P.B. Canham (University of Western Ontario, Canada), S.C. Cowin (City University of New York, USA), K. Hayashi (Osaka University, Japan), J.D. Humphrey (Texas A&M University, USA), P.J. Hunter (University of Auckland, New Zealand), R.S. Lakes (University of Wisconsin, USA), and P.D. Richardson (Brown University, USA).

What a journey writing this text has been. The lengthy voyage started well before the idea hatched of authoring a text that contained the word "thermodynamics"! I was informed by my good friend and sometimes colleague Dr. Jose Antonio that by including that word in the title, nutritionists and exercise physiologists might avoid the subject. But almost every step of my expedition was taken on a rather solid foundation of thermodynamics and as such the topic could not possibly be omitted from the title or the text of a book about bioenergetics and energy expenditure. I am not a physicist. In fact I ?rst went to college to become a football coach. That vocational choice began to deteriorate when taking the mandatory anatomy and physiology courses required of all physical education majors. This information was exciting; my interest in physical education began to wane. During sophomore year, I answered an advertisement in the school newspaper requesting research subjects.

This book provides a state-of-the-art approach to the molecular basis of hematologic diseases and its translation into improved diagnostics and novel therapeutic strategies. Several representative hemato-oncologic malignancies are analyzed in detail: acute lymphoblastic leukemia, acute myeloid leukemia, B-cell Non-Hodgkin lymphomas, multiple myeloma, chronic lymphocytic leukemia, chronic myeloid leukemia, myelodysplastic syndromes, and myeloproliferative neoplasms. Experts in the field describe the molecular methods applied for modern diagnostics and therapies, such as hematopoietic stem cell transplantation, donor recipient matching, banking of biological material, analyses of post-transplant chimerism, and minimal residual disease monitoring. The volume concludes with an extensive section comprising thorough step-by-step protocols of molecular techniques in hematology, all of them validated in the authors own laboratories.

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Fertility specialists are constantly looking for ways to improve the chances of pregnancy through IVF or other assisted reproductive techniques (ART). 'Adjuvant' or 'add-on' therapies are procedures or medications which are added to IVF treatment to try and improve the chances of success. This book is a practical guide to the use of adjuvants in infertility for clinicians and trainees. Divided into ten sections, the text begins with an overview of the rational for additional therapy in IVF. The next section examines different types of adjuvant therapy and their pros and cons. Topics include medical nutrition therapy, neutraceuticals, antioxidants, micronutrients, and reactive oxygen species. Each of the following sections covers adjuvant use for improving a specific fertility issue - PCOS, ovarian reserve, uterine blood flow, endometrial receptivity, embryo implantation, and male subfertility. The final sections discuss the impact of thyroid autoimmunity on the outcome of ART, and the use of surgery as an adjuvant in infertility. Key points Practical guide to the use of adjuvants in infertility Covers various types of adjuvant and their use for different fertility issues Includes discussion on surgery as an adjuvant Highly illustrated with clinical photographs and diagrams

The craniofacial musculature, including the extraocular muscles, muscles associated with the

auditory system, the masseter, the tongue, and the laryngeal and pharyngeal muscles, all

participate in functions that are critical to life: vision, intact of nutrition, breathing, and hearing.

Despite their critical importance, the majority of research on skeletal muscle basically has

ignored this collection of muscles. This is most likely due to their complexity in form,

development, fiber types, physiology, and disease profiles. All these make these muscles

extremely difficult to study.

Vision depends on voluntary and reflexive eye movements initiated by the oculomotor system.

The effector arm of this motor system includes the extraocular muscles and their motor neurons.

Mastication, and therefore food intake, depends on the complex movements of the masseter and

tongue musculature. The effector arm of this motor system includes the masseter and tongue

muscles and their motor neurons. Respiration, human phonation, as well as gestation, depend on

the laryngeal and pharyngeal musculature. The effector arm of these motor systems includes the

intrinsic and extrinsic laryngeal muscles and the pharyngeal muscles and their motor neurons.

Recently there has been a renewed interest in understanding the basic cell biology and

pathologies associated with these unusual skeletal muscles. This book will highlight novel

findings on the development of these muscles and their innervation, metabolic design, functional

consequences of their structural organization, and potential reasons for their differential response

to various neuromuscular diseases. In addition, critical areas for future studies will be identified.

Contents

E.I. Christensen and R. Nielsen: Role of Megalin and Cubilin in Renal Physiology and Pathophysiology

G. Zifarelli and M. Pusch: CLC Chloride Channels and Transporters: A Biophysical and Physiological Perspective

S.F.J. van de Graaf, R.J.M. Bindels and J.G.J. Hoenderop: Physiology of Epithelial Ca2 and Mg2+ Transport

High throughput sequencing (HTS) technologies have conquered the genomics and epigenomics worlds. The applications of HTS methods are wide, and can be used to sequence everything from whole or partial genomes, transcriptomes, non-coding RNAs, ribosome profiling, to single-cell sequencing. Having such diversity of alternatives, there is a demand for information by research scientists without experience in HTS that need to choose the most suitable methodology or combination of platforms and to define their experimental designs to achieve their specific objectives. Field Guidelines for Genetic Experimental Designs in High-Throughput Sequencing aims to collect in a single volume all aspects that should be taken into account when HTS technologies are being incorporated into a research project and the reasons behind them. Moreover, examples of several successful strategies will be analyzed to make the point of the crucial features. This book will be of use to all scientist that are unfamiliar with HTS and want to incorporate such technologies to their research.

The "Handbook of Sociology of Aging" is the most comprehensive, engaging, and up-to-date treatment of developments within the field over the past 30 years. The volume represents an indispensable source of the freshest and highest standard scholarship for scholars, policy makers, and aging professionals alike.

The "Handbook of Sociology of Aging "contains 45 far-reaching chapters, authored by nearly 80 of the most renowned experts, on the most pressing topics related to aging today. With its recurring attention to the social forces that shape human aging, and the social consequences and policy implications of it, the contents will be of interest to everyone who cares about what aging means for individuals, families, and societies.

The chapters of the "Handbook of Sociology of Aging" illustrate the field's extraordinary breadth and depth, which has never before been represented in a single volume. Its contributions address topics that range from foundational matters, such as classic and contemporary theories and methods, to topics of longstanding and emergent interest, such as social diversity and inequalities, social relationships, social institutions, economies and governments, social vulnerabilities, public health, and care arrangements. The volume closes with a set of personal essays by senior scholars who share their experiences and hopes for the field, and an essay by the editors that provides a roadmap for the decade ahead.

The "Handbook of Sociology of Aging" showcases the very best that sociology has to offer the study of human aging.

Fungal pathogens pose an on-going and serious threat for poikilotherms and homeotherms, and can cause a broad spectrum of diseases ranging from innocuous to life-threatening. In addition, long-term exposure to some mycotoxigenic moulds can lead to mycotoxicoses in human and animals. Given the expanding population of immune compromised hosts, the list of fungal opportunists grows longer every year. Moreover, antifungal resistance, drug-related toxicity and our limited arsenal of antifungals have exacerbated the situation. To address these problems, strategies such as the identification of novel targets, use of the structure-activity relationship in rational drug design, development of new formulations, modification of existing antifungals to combat resistance, and bioavailability enhancement are called for. For the reader's convenience, this book has been divided into three sections. The first six chapters of Section I provide a timely review of mycoses, from endemic to cosmopolitan and from generalized to specific, while both chapters of Section II focus on risks associated with mycotoxins. In closing, the two chapters of Section III describe potential antifungal leads and drug candidates based on phytochemicals and coumarin scaffold.

Germination of the thought of "Enzymatic- and Transporter-Based Drug-Drug Interactions: Progress and Future Challenges" Proceedings came about as part of the annual meeting of The American Association of Pharmaceutical Scientists (AAPS) that was held in San Diego in November of 2007. The attendance of workshop by more than 250 pharmaceutical scientists reflected the increased interest in the area of drug-drug interactions (DDIs), the greater focus of PhRMA, academia, and regulatory agencies, and the rapid pace of growth in knowledge. One of the aims of the workshop was to address the progress made in quantitatively predicting enzyme- and transporter-based DDIs as well as highlighted areas where such predictions are poor or areas that remain challenging for the future. Because of the serious clinical implications, initiatives have arisen from the FDA (http://www.fda.gov/cber/gdlns/interactstud.htm) to highlight the importance of enzyme- and transporter-based DDIs. During the past ten to fifteen years, we have come to realize that transporters, in addition to enzymes, play a vital role in drug elimination. Such insight has been possible because of the continued growth in PK-ADME (pharmacokinetics-absorption-distribution-metabolism-excretion) knowledge, fueled by further advances in molecular biology, greater availability of human tissues, and the development of additional and sophisticated model systems and sensitive assay methods for studying drug metabolism and transport in vitro and in vivo. This has sparked an in-depth probing into mechanisms surrounding DDIs, resulting from ligand-induced changes in nuclear receptors, as well as alterations in transporter and enzyme expression and function. Despite such advances, the in vitro and in vivo study of drug interactions and the integration of various data sets remain challenging. Therefore, it has become apparent that a proceeding that serves to encapsulate current strategies, approaches, methods and applications is necessary. As Editors, we have assembled a number of opinion leaders and asked them to contribute chapters surrounding these issues. Many of these are the original Workshop speakers whereas others had been selected specially to contribute on topics related to basic and applied information that had not been covered in other reference texts on DDI. The resulting tome, entitled Enzyme- and Transporter-Based Drug Interactions: Progress and Future Challenges, comprises of four sections. Twenty-eight chapters covering various topics and perspectives related to the subject of metabolic and transporter-based drug-drug interactions are presented.

This readable and student-friendly guide simplifies and clearly explains the complex concepts and processes of fluids and electrolytes in the human body. It utilizes a step-by-step learning approach and starts with the basics and advances to cover more complex issues. The new edition features revised NCLEX (R) examination-style questions and new case studies. Unique presentation of content allows students to survive and thrive. Material is presented using adult learning principles and various active-learning strategies to engage nursing students of all ages, backgrounds, and learning styles. Consistent chapter format breaks down information into small units and reinforces an effective thinking process. Special icons for Lifespan Considerations, Cultural Implications, Web Links, and Cautions help the student quickly identify special content in the chapter. Memory-reinforcing interactive activities (including fill-in the blank, matching, word jumbles, true/false, and crossword puzzles) promote student learning. Clinical terms and shorthand expressions are highlighted in parentheses to expose students to terminology that they will hear in the hospital setting. Boxed Take Home Points provide the benefit of years of nursing experience that students can use to prepare for their clinical rotation. Original cartoon-character illustrations walk the student through difficult subjects with a lighthearted approach. Cover design and series title better identifies the series as a fun and simple review. What You Will Learn section provides chapter objectives for the reader to aid in their navigation through the chapters. Over 100 NCLEX (R) examination-style review questions have been moved to the ends of chapters to immediately test student knowledge.

From Viagra to in vitro fertilization, new technologies are rapidly changing the global face of reproductive health. They are far from neutral: religious, cultural, social, and legal contexts condition their global transfer. The way a society interprets and adopts (or rejects) a new technology reveals a great deal about the relationship between bodies and the body politic. Reproductive health technologies are often particularly controversial because of their potential to reconfigure kinship relationships, sexual mores, gender roles, and the way life is conceptualized. This collection of original ethnographic research spans the region from Morocco and Tunisia to Israel and Iran and covers a wide range of technologies, including emergency contraception, medication abortion, gamete donation, hymenoplasty, erectile dysfunction, and gender transformation.

When it's hot outside, what can you do to stay cool? People have found many ways to cool off and cool down. How cool is that? Created in collaboration with the Smithsonian Institution, this STEAM book will ignite a curiosity about STEAM topics through real-world examples. It features a hands-on STEAM challenge that is perfect for makerspaces and that guides students step-by-step through the engineering design process. Make STEAM career connections with career advice from actual Smithsonian employees working in STEAM fields. This book builds young readers' early childhood literacy skills and is ideal for 1st grade students or ages 5-7.

Series:

Highly practical and clinically relevant

Ophthalmology series is indispensable for continuous education and advanced training

All editors with international reputation and contributing authors with expertise in their topics

Reader-friendly format: Well-structured text and design, quick and easy to read

Richly illustrated with numerous tables and color photos

Bridges the gap between primary literature and daily practice

Every 2nd year each subject is refreshed with timely information about the new development in the specialized field

This volume:

Appeals not only to Ophthalmologists, but also to Pediatricians

Gives quick and practical introduction to the most up-to date treatment options in pediatric ophthalmology

Only addresses new developments of the past 2 years

Covers 3 main topics: Genetics, Pediatrics and Neurophthalmology, while competing titles focus on one of these subspecialties

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This second edition emphasizes the environmental impact on reproduction, with updated chapters throughout as well as complete new chapters on species such as sharks and rays. This is a wide-ranging book that will be of relevance to anyone involved in species conservation, and provides critical perspectives on the real utility of current and emerging reproductive sciences.Understanding reproductive biology is centrally important to the way many of the world's conservation problems should be tackled. Currently the extinction problem is huge, with up to 30% of the world's fauna being expected to disappear in the next 50 years. Nevertheless, it has been estimated that the global population of animals in zoos encompasses 12,000 - 15,000 species, and we anticipate that every effort will be made to preserve these species for as long as possible, minimizing inbreeding effects and providing the best welfare standards available. Even if the reproductive biology community cannot solve the global biodiversity crisis for all wild species, we should do our best to maintain important captive populations. Reproductive biology in this context is much more than the development of techniques for helping with too little or too much breeding. While some of the relevant techniques are useful for individual species that society might target for a variety of reasons, whether nationalistic, cultural or practical, technical developments have to be backed up by thorough biological understanding of the background behind the problems.

"Next generation" sequencing techniques allow for more detailed analysis of exons and introns in multiple genes at the same time. This will reveal many mutations that potentially lead to exon skipping. To functionally test these a lot can be achieved with a limited set of protocols, while for the intentional induction of exon skipping different tools and target genes are involved and the translational path from in vitro splicing to in vivo tests in animal models requiring a more extensive set of protocols. Exon Skipping: Methods and Protocols provides scientist with a comprehensive guide to many of the methods and techniques used for exon skipping, such as methods on how to discriminate "real polymorphisms" from mutations that affect splicing. Written in the highly successful Methods in Molecular Biology (TM) series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and key tips on troubleshooting and avoiding known pitfalls. Authoritative and practical Exon Skipping: Methods and Protocols seeks to aid scientists in the continuing study of exon skipping.

This comprehensive volume completes Frederic Holmes's notable and detailed biography of Hans Krebs, from the investigator's early development through the major phase of his groundbreaking investigation, which lay the foundations upon which the modern structure of intermediary metabolism is built. With access to Krebs's research notebooks as well as to Krebs himself through more than five years of personal interviews, the author provides an insightful analysis of Hans Krebs and of the scientific process as a whole. The first volume, published in 1991, covered Krebs's formative years in Germany, his work with Otto Warburg, and his discovery of the urea cycle in 1932. This second volume reconstructs the investigative pathway and the professional and personal life of Hans Krebs, from the time of his arrival in England in 1933 until 1937, when he made the discovery for which he is best known-the formulation of the citric acid cycle. Holmes portrays Krebs's activity at the intimate level of daily interactions of thought and action, from which the characteristic patterns of scientific creativity can best be seen. Holmes's fascinating portrait of Krebs integrates the great scientist's investigative pathways with his personal life. The result is an illuminating analysis of both man and scientist that will be of interest to biochemists and historians of science.

H. Wegele, L. M ller, and J. Buchner: Hsp70 and Hsp90 A Relay Team for Protein Folding

R. Sch lein: The Early Stages of the Intracellular Transport of Membrane Proteins: Clinical and Pharmacological Implications

L. Schild: The Epithelial Sodium Channel: From Molecule to Disease

Gene correction is a technology that gives us the tools for both repairing and mutating DNA, for discovering gene functions and for engineering new genetic variants. Gene Correction: Methods and Protocols provides a user friendly, detailed and up-to-date collection of strategies and methodologies utilized for generating specific sequence changes in the DNA of cells in the laboratory, while also tackling the major problems that the field of gene correction faces. This volume brings together many experts in the field of gene correction to disclose a wide and varied array of specific gene correction protocols for engineering mutations in DNA, for delivering correcting DNA to target cells, and for improving the accuracy and safety of the gene correction process. Written in the successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible protocols, and notes on troubleshooting and avoiding known pitfalls. Authoritative and easily accessible, Gene Correction: Methods and Protocols seeks to serve scientists of all backgrounds interested in the area of gene targeting/recombination/therapy.

Epigenetics is a rapidly expanding field in medical and biological research which concerns heritable traits that are not attributable to changes in the DNA sequence. Epigenetic mechanisms play key roles in many biological processes, and it has become clear that their disruption can gives rise to diverse pathologies in humans. Edited by preeminent experts, Sophie Rousseaux and Saadi Khochbin, this volume in the Epigenetics and Human Health' series discusses the role of epigenetics in human reproduction. The book presents epigenetic transitions that are important at defined stages of gametogenesis and during meiosis. Several of the sixteen chapters written by experts in the field cover fundamental concepts discovered through cellular and biochemical work and from research on animal models. In other chapters, key examples are provided of how disruption of these mechanisms affects germ cell development and fertility, and contributes to the germinal cancers. Finally, the book discusses how in vitro manipulation and culture in assisted reproduction can epigenetically perturb germ cells, and how this can trigger disease phenotypes in the next generation. Conceived towards advanced students, medical professionals and research scientists, this is the first comprehensive textbook on this topic that will serve as a valuable reference during the years to come.

Manual of Structural Kinesiology, 22e provides a straightforward view of human anatomy and its relation to movement. While the manual is designed for use in undergraduate structural kinesiology courses, other clinicians and educators will also benefit from the text. The manual clearly identifies specific muscles and muscle groups and describes exercises for strengthening and developing those muscles. The author's goal continues to be to provide important information in an accessible format through a combination of logical presentation, extensive and clear illustrations, and concise writing style.

This expert volume covers an interdisciplinary and rapidly growing area of biomedical research comprising genetic, biochemical, pathological, and clinical studies aimed at the diagnosis and therapy of human diseases which are either caused by or associated with mitochondrial dysfunction. It dedicates itself to showcasing the tremendous efforts and the progress that has been made over the last decades in developing techniques and protocols for probing, imaging, and manipulating mitochondrial functions. Mitochondrial Medicine: Volume I, Probing Mitochondrial Function focuses on methods being used for the assessment of mitochondrial function under physiological conditions as well as in healthy isolated mitochondria. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Comprehensive and practical, Mitochondrial Medicine provides an essential source of know-how and inspiration to all researchers who are fascinated by this tiny organelle that seems so clearly to control the life and death of a single cell and whole organisms alike.