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This textbook illustrates the importance and significance of molecular genetic testing in reproductive disorders. The present book covers the genetic testing in various reproductive system anomalies, including disorders of sexual development, male infertility (Y deletions, autosomal mutations, sperm DNA fragmentation), female infertility (PCOS and POF), mitochondrial DNA testing for oocyte quality, recurrent pregnancy loss, pre-term birth, endometrial receptivity, prenatal genetic screening, reproductive carrier screening, preimplantation genetic screening, endometrial cancer, cervical cancer and other related reproductive health disorders. Microbiome testing and its contribution to genetic testing in reproductive medicine are also discussed. Genetic testing in some of these has already come into practice, genetic testing for others is established but not clinically practiced, and genetic testing for others is yet in infancy as there is only limited data available. For the disorderswhere sufficient genetic data to undertake genetic testing is not available, we have tried to put together the evidence for proposing such tests in the near future. Apart from this, the book also covers ethical, moral and technical challenges in genetic testing in reproductive medicine. The book aims to set up a standard with regard to genetic testing in the reproductive medicine field, encourage further data generation, and provide food for thought in the areas of lacunae. The book serves graduate students, researchers, clinicians, professors, and patients in the field of reproductive medicine.​

Pediatrics is an evolving field of medicine and with many new advancements in knowledge, scientific research, and technology in recent years. This concise and comprehensive 2nd Edition of the textbook'Update in Pediatrics'provides an update and overview of the latest advances and current literature in Pediatrics, assisting health professionals to review cutting-edge information in the different subspecialties in Pediatrics. This book is structured into chapters based on the various subspecialties in Pediatrics, and includes chapters ranging from traditional disciplines such as Infectious Disease and Cardiology, to more current disciplines such as Adolescent Medicine and Child Maltreatment. The team of authors is made up of experienced and expert clinicians and researchers in their respective fields. The target audience for this book includes any practitioner who cares for children, including pediatricians, family doctors, nurses and nurse practitioners, allied health professionals, residents, medical students, and health researchers providing an indispensable resource for the busy clinician and learner who wishes to stay up-to-date with the latest advances and knowledge in the field.

This book provides the latest information on the significance of zebrafish as an ideal model for researching the biomedical field, with references. This book also focused on the evidence of zebrafish as a model in cardiovascular, neurologic, psychiatric and metabolic research. In addition, the book also includes the research carried out on zebrafish in hepatic, renal, ophthalmic, and ENT related areas. Contributed chapters come from the most prominent laboratories working in this field, which provides a unique perspective on zebrafish models from a wide spectrum of the research community. In addition, the book offers a detailed analysis of the most current research in the area for specific zebrafish models including specific research in the area of skin disorders, endocrine diseases, nutritional disorders, gastrointestinal, hematological disorders and cancer. The compilation of chapters in the volume culminates into a comprehensive and definitive text on zebrafish and its suitability for modeling various diseases, providing a critical resource on the potential attributes of the zebrafish as a pharmacological model. In terms of scope, this book is a useful tool for young researchers, professors and pharmaceutical scientists for understanding the significance of zebrafish as an emerging pharmacological model that can significantly aid in the process of drug discovery and development.

This sixth edition provides an overview of fetal and neonatal pathology through a system-based approach. This book contains new chapters on immunology, with a continued focus on molecular aspects of pathology in the perinatal setting. The general principles of perinatal pathology and their clinical situations are also discussed, along with specific pathological entities and their organ systems. Keeling's Fetal and Neonatal Pathology, sixth edition aims to help the reader treat common problems through anatomical pathology findings and is relevant to practicing and trainee pathologists, obstetricians, maternal and fetal medicine specialists, neonatologists, and pediatricians.

This book offers a comprehensive review of allergy and immunology, specifically dedicated as a board review preparation. The book is a collective effort and participation of over 90 well known allergists, immunologists, and rheumatologist who are academician and or practitioners. Chapters are presented in a'Case-Based'format. Each chapter presents 2 cases; each case is followed by multiple choice questions/ answers and discussions. Each chapter also offers a list of specific references used in the text, that will enhance the readers'portfolio of resources. Allergy and Immunology Board Review is a must-have resource for allergy & immunology fellows-in-training and all allergy practitioners as well as any medical provider including residents, medical students and allied health who rotate in allergy divisions.

This 7th edition is a milestone in the series of Inborn Metabolic Diseases (IMD), recognised as the standard textbook for professionals involved in the diagnosis and management of IMD.Within the last 5 years a Copernican revolution in our understanding of IMD has changed the definition, concepts, paradigms, and classification. This new edition now extends the concept of IMD to include those disturbances in molecular machinery diagnosed by molecular techniques but currently without measurable metabolic markers.The book presents a clinical and biochemical approach to the diagnosis and management of IEM with many diagnostic algorithms for patients of all ages and with a particular focus on neurological presentations. It includes separate, comprehensive sections on IEM classified in 3 major pathophysiological categories: disorders of energy metabolism, both mitochondrial and non-mitochondrial; small molecule disorders, mostly diagnosed with metabolic markers; and complex molecules disorders, mostly diagnosed with molecular techniques.Two new chapters were added, describing around 600 disorders of nucleic acid metabolism, tRNA metabolism, ribosomal biogenesis, and cellular trafficking.

This book provides a broad clinical overview of primary and secondary immunodeficiencies nested in clinical cases that will help the reader understand the approach to evaluation, diagnosis, and management of these challenging cases. Chapters begin with a comprehensive overview of immunodeficiencies to ground the reader in practical knowledge of the field and these complex conditions. Chapters cover B lymphocyte immunodeficiency, T cell immunodeficiency, immune dysregulation syndromes, and innate immune defects. They discuss a range of treatment options including gene therapy or bone marrow transplant. The book continues with a discussion on secondary immunodeficiencies and their treatment. Each chapter was written by authors with expertise related to different immunodeficiency disorders and provide a succinct overview of pathomechanisms, diagnosis, and treatment of a specific condition. Primary and Secondary Immunodeficiency will be an excellent resource forpracticing allergists, hematologists, clinical immunologists, fellows, residents, and other clinicians who work with immunodeficiency patients.

This book contains twelve chapters contributed by prestigious international experts who are at the forefront of B cell research, and aims to provide a cutting-edge and comprehensive overview of all aspects of B cells, including B cell development, maturation and activation, germinal center reaction, memory and plasma cell differentiation, and antibody-mediated positive and negative regulation of humoral immune responses. There are also three chapters describing human diseases caused by B cell abnormalities, including primary antibody deficiencies, autoimmune diseases, and B cell malignancies. We hope that this book will become a standard and routine reference for both basic researchers and clinicians.

Bone Marrow transplantation or Hematopoietic stem cell transplantation is a life saving procedure in a number of diseases,hematological and non hematological, which fail alternative medical management or have no other treatment options. It has transformed the lives of thousands of patients and their families around the world battling with fatal or debilitating diseases.There are many unique aspects of bone marrow transplantation which makes it very different from solid organ transplants. There is an enormous amount of research going on in this field both at clinical and basic science levels.With the rapidly changing world and field of transplantation, there is a need for an authoritative and up to date resource for transplant professionals.This book titled Contemporary Bone Marrow Transplantation aims to be a reference text comprehensively covering various facets of hematopoietic stem cell transplants with latest insights about the technique and basic sciencebehind it. The book is the product of collective effort of transplant professionals round the world, and will reflect their experience as well as the current standard of care practices in Stem cell transplantation.The book will be divided into different sections focusing on the basic science of bone marrow transplant, the technical aspects of the procedure itself and the supportive care of transplant patients.There will also be a section each on epidemiology, upcoming trends and also case studies, which will discuss real case scenarios from the experience of the authors, to illustrate the practical challenges in managing bone marrow transplant recipients.

Volume Immunodeficiency Diseases in Springer's gold-standard reference work on medical immunology focuses on infectious diseases. In tandem with its three counterpart volumes it offers the most wide-ranging and authoritative repository of knowledge on infectious diseases, with readily accessed contributions by the world's leading authorities on the subject. The encyclopedia covers the material from all angles, with more than 1000 pages of essays on the genetics, physiology, metabolism, pathogenesis and applied microbiology of all known infectious diseases, and includes access to an e-reference work that will include ongoing updates reflecting the latest advances in the field.An outstanding new resource of immense value to a wide range of medical researchers and practitioners, the encyclopedia features a user-friendly subdivision of diseases according to their affective locus in the human body. The sections cover integumentary, skeletal, respiratory, digestive, urinary, and reproductive transmissible pathogens. This high-profile encyclopedia will be an essential addition to academic libraries worldwide.

This book provides a comprehensive overview of benign hematologic disorders in children. Divided into nine sections, the text reviews common hematologic disorders or conditions that affect children, while providing state-of-the-art information on pathophysiology, diagnosis, treatment, and management strategies.The text begins with a section on hematopoiesis, and the next section covers red blood cell disorders. The following sections provide overviews of platelet disorders, white blood cell disorders, and coagulation disorders. The sixth and seventh sections discuss neonatal hematology and bone marrow failure syndrome. The eighth section reviews supportive care, while the final section covers miscellaneous subjects including pediatric vascular anomalies and complement dysregulation syndromes.Written by experts in the field, Benign Hematologic Disorders in Children: A Clinical Guide is a valuable resourcefor clinicians and practitioners who treat children afflicted with these disorders.

This book is an up-to-date, comprehensive, clinically oriented guide to the diagnosis and treatment of patients with myocarditis. The opening chapters address the classification, histopathology and molecular diagnosis, as well as the polymorphic clinical presentations, ranging from myocardial infarction with normal coronary arteries; arrhythmias of variable type and clinical severity and fulminant, acute, sub-acute or chronic heart failure; to life-threatening unexplained cardiogenic shock and sudden cardiac death.Including chapters from leading International experts in the field, it covers all key issues from bench to bedside. Topics presented include epidemiology, etiology, pathogenesis, clinical and diagnostic work-up, the role of endomyocardial biopsy and of non-invasive cardiac imaging, risk stratification, and cardiological and etiology-specific management and follow-up. For each topic, a comprehensive review of the current literature is provided and practical suggestions are offered for short- and long-term management. Lastly, future perspectives and gaps in the current knowledge are also addressed. The book also covers a key discovery of last the 2 decades, namely the autoimmune origin of myocarditis in a sizable proportion of patients, discussing in detail the role of immunosuppression and immunomodulation, as well as the need for a multidisciplinary approach to the disease. Mainly intended for cardiologists, general physicians, clinical immunologists and rheumatologists, it is also a valuable tool for residents in Cardiology, Internal Medicine, Clinical Immunology and Rheumatology.

This volume highlights recent advances using iPS cells in disease modeling and medical applications along with new technologies that enhance the power of iPS cells. While the discovery of iPS cells has provided excellent opportunities for developing models of human diseases, platforms for drug discovery and cell therapies, iPS cell technology still faces many challenges. Presenting the latest advances in this rapidly evolving research area, this book is intended to widen the community of researchers and clinicians interested in the exciting field of iPS cells.

This book fills a gap at the interface of fundamental and clinical immunology, and allergy. For many years, experts in fundamental immunology and physicians involved in clinical immunology and allergy worked separately – but the fundamental immunologists did not have medical qualifications and the physicians were not involved in the field of fundamental research. Written by a teacher and an expert in both fields, this book combines current knowledge on basic immunology and immunopathology with clinical comments that complete the whole picture.Immunology is a complex science, which requires a simplified approach in order to be taught and understood effectively. This book is based on the authors'long experience in teaching undergraduate, postgraduate students and interns both basic and clinical immunology.Reviewing a variety of important components related to the immune system, it is clearly and logically structured, and enriched by figures, tables and boxes with important immunology definitions. Each chapter has its own bibliography, and most units include links to electronic quizzes and audio files to accompany readers step by step. This easy-to-follow volume concludes with suggestions for future study. It is a valuable resource for undergraduate and postgraduate students, as well as medical practitioners.

This book comprises a collection of categorized case-based questions, directed and meticulously selected to cover the most common and most important aspects of immunodeficiency diseases. Immunodeficiency disorders of infancy and childhood such as antibody deficiencies, phagocyte defects and defects in innate immunity are addressed among others. Each chapters starts with a brief of the initial presentation and lab data of the patient, followed by a series of 5-6 multiple choice questions (MCQs), leading the reader to the diagnosis and best of practice in a step-wise manner. This MCQ format along with precise, yet detailed answer ensures a quick, case-based, reality learning to the reader. This comprehensive MCQ series, is an essential reading material that a pediatric clinician, hematologist, immunologist, transplant specialist, or pulmonologist, can not afford to miss.

This book provides a comprehensive, state-of-the-art review of the concepts vital to a modern treatment of common and opportunistic infections in the immunocompromised host. Chapters are written by experts in the field, and include their views on gaps in the field and future directions of research. This book begins with an overview of the normally functioning immune system followed by a detailed discussion of the major primary immunodeficiencies. Specific chapters are dedicated to providing practical knowledge in the prevention and treatment of infections in specific immunocompromised patients, including those with cancer, transplant recipients, HIV infection, and autoimmune disorders. Emphasis is placed on diagnostic evaluation, antimicrobial selection that includes consideration of the threat of antimicrobial-resistant pathogens, and immunotherapy tailored to specific patients. Finally, dedicated chapters on stem cell transplantation for patients with primary immunodeficiencies,adoptive cellular immunotherapy, and gene therapy will provide readers with insight into these rapidly evolving and cutting edge therapies.Management of Infections in the Immunocompromised Host is a valuable resource for infectious diseases specialists, immunologists, oncologists, hematologists, general physicians, students, researchers, and all other working with immunocompromised patients.

In this book, world-renowned experts in the field express well-reasoned opinions on a range of issues and controversies relating to haploidentical transplantation with the aim of providing practicing hematologists with clinically relevant and readily applicable information. Among the areas covered are graft manipulation and methods to control T-cell alloreactivity, the nature of the ideal graft and donor, haploidentical transplantation in pediatric and adult patients with malignant and nonmalignant diseases, immunologic reconstitution following transplantation, complications, and the prevention and treatment of relapse post transplantation. Attention is drawn to the implications of high-impact clinical trials whenever such trials are available. The readily intelligible text is complemented by numerous helpful tables, algorithms, and figures. The book will provide practical support for hematologists and transplant physicians as they attempt to provide optimal care in this exciting but increasingly complex medical specialty.

This book provides a comprehensive, state-of-the art review of hematopoietic stem cell transplantation (HSCT) for sickle cell disease (SCD). The book reviews new data about risk prediction for severe SCD, outlines the unique challenges of HSCT for patients with SCD, profiles the supportive care guidelines for patients who are undergoing HSCT, highlights our current understanding of the best transfusion support for SCD patients prior to, during and after HSCT, and provides new perspectives about the ethics of HSCT for pediatric patients with SCD. Published in the last few years, several landmark phase III trials that utilize matched unrelated and haploidentical donors for HSCT in SCD patients are also placed in context with respect to current management. Written by experts in the field, Sickle Cell Disease and Hematopoietic Stem Cell Transplantation is a valuable resource for physicians and researchers dealing with and interested in this challenging, yet exciting, curative therapy for sickle cell disease, that will help guide patient management and stimulate investigative efforts.

Das Nachschlagewerk für die Weiterbildung und die praktische Arbeit in der Klinik erscheint mit neuem Herausgeberteam komplett überarbeitet und präsentiert kompakt zusammengefasst die Highlights der aktuellen pädiatrischen Hämatologie und Onkologie. Verständlich und ohne Ballast präsentiert, ist das Buch für Spezialisten auf dem Gebiet ebensogut geeignet wie als anwendungsbezogener Einstieg in die Thematik. Das Werk ist in drei übersichtliche Abschnitte eingeteilt: die pädiatrische Hämatologie und Hämostaseologie, die allgemeine pädiatrische Onkologie und die spezielle pädiatrische Onkologie. Hier werden Leukozyten und Lymphome sowie solide Tumoren besprochen, darunter Tumoren im Zentralnervensystem, im Bauch und die Sarkome. Eine klare und einheitliche Einteilung jedes Krankheitsbildes macht das Buch übersichtlich und gut zugänglich von der Epidemiologie über die Pathogenese, Klassifikation, klinische Präsentation bis zu Diagnostik, Differenzialdiagnostik und prognostischen Faktoren. Die Therapie umfasst die Einordnung in internationale Konzepte und wird jeweils mit einem übersichtlichen Therapiealgorithmus einschließlich der Heilungsraten präsentiert. Zukünftige Therapieoptionen unter Einschluss möglicher Rezidive runden die Kapitel ab. Die Expertise führender pädiatrischer Onkologen und Hämatologen aus dem gesamten deutschsprachigen Raum sorgt dafür, dass dieses Buch das zeitgemäße Nachfolgewerk des ehemals von Gadner/Gaedicke/Niemeyer/Ritter herausgegebenen Standardwerks zur pädiatrischen Hämatologie und Onkologie wird. Das Buch richtet sich an Ärzte in Weiterbildung der Kinder- und Jugendmedizin und an alle pädiatrischen Onkologen bzw. Hämatologen.

This landmark book, a reference work now in its second edition, provides healthcare practitioners in neonatology with an up-to-date, comprehensive source of readily accessible practical advice that will assist in the expert management of patients and their diverse illnesses. Leading experts in their fields discuss the underlying causes and mechanisms and all aspects of the treatment of the full range of neonatal diseases and abnormalities, citing the evidence base whenever appropriate. In addition, detailed information is provided on epidemiology and fetal medicine; therapeutic issues such as the organization of care, transport services, and home care after discharge; legal issues; nutrition; and the consequences of medication use during pregnancy, maternal drug abuse and smoking, and maternal diabetes. The inclusion of summaries, tables, and carefully selected guidelines and recommendations will supply practitioners with quick references and instant solutions during daily practice. The book will be a superb resource for all involved in the care of newborn babies, including neonatologists, pediatricians, pediatric surgeons, anesthesiologists, midwives, and nursing staff. It is published within the SpringerReference program, which delivers access to living editions constantly updated through a dynamic peer-review publishing process.

This book provides a broad overview of the respiratory manifestations associated with Primary Immune deficiencies (PID) congenital genetic defects such as infections, chronic inflammation, autoimmunity, lymphoproliferation, allergic manifestations and rare forms of cancer. Since the most common site of involvement in PID is the lung, the pulmonologists (pediatrics or adult), Internists and General Practitioners may be among the first to recognize the pattern of pulmonary disorders, leading to diagnosis of PID. Pulmonary complications present a significant cause of morbidity and also mortality among patients suffering from different forms of PID. With the prevalence of lung infections and disease so high in PID patients, respiratory professionals will find this book to be an essential resource for diagnosing, managing and referring PID related pulmonary disorders in clinical practice.

This book aims to equip the reader to make optimal decisions on the use of mechanical ventilatory support in critically ill cancer patients with acute respiratory failure (ARF) and to implement the different strategies effectively. Detailed information is provided on the rationale for invasive and non-invasive ventilation, the different modes of ventilation, indications and contraindications, prognostic factors, and outcomes. The role of postoperative mechanical ventilation following various forms of surgery is extensively addressed, and key aspects of withdrawal from ventilatory support are discussed. Attention is also devoted to mechanical ventilation in the palliative care context. The concluding part of the book focuses on healthcare resource utilization and organizational support in cancer critical care. ARF is the most common reason for hospital and intensive care admission among oncological patients, and there is growing evidence that outcome following mechanical ventilation isimproving. Readers will find this book to be an invaluable aid when selecting and executing a strategy for management of ARF in individual cancer patients.

This volume provides a comprehensive and state-of-the-art review on pediatric hematopoietic stem cell transplantation (HSCT). The book covers such topics as graft versus host disease (GVHD), HSC mobilization, stem cell selection, and HSCT-relevant laboratory assays and techniques. The text is specially formatted so that the scientific basis of HSCT and ethical considerations are integrated into the relevant clinical framework. Each chapter also includes diagrams, illustrations, and tables that summarize key points and concepts that can be used as a quick visual reference for the reader. Written by experts in the field, Hematopoietic Stem Cell Transplantation for the Pediatric Hematologist/Oncologist is a valuable resource on pediatric HSCT suited for pediatric hematologists-oncologists, fellows, advanced practitioners, clinical nurses, and other referring physicians.

This concise and comprehensive volume updates health professionals on recent advances in the field of pediatrics. It includes chapters in every subspecialty of pediatrics, such as critical care, development emergency medicine and genetics. Ranging from traditional disciplines such as infectious disease and cardiology to more current disciplines such as adolescent medicine, metabolics and genetics this is an indispensable guide for the busy clinician who wishes to stay up-to date with latest advances in the field.Through the use of summaries and bullet points, the book conciselly describes the latest recommendations and guidelines in pediatrics and provides a good overview of the available technology for each subspecialty.The team of authors is made up of experienced clinicians and researchers in their respective fields. This book appeals to pediatricians, family doctors, nurses and nurse practitioners, allied health professionals, and health researchers.

This book focuses on hematopoietic and lymphoid neoplasms that initially present as peripheral blood abnormalities, with either cytopenias or elevated peripheral blood counts, as well as non-neoplastic conditions that may raise concern for a hematologic malignancy. The scope of the book includes myelodysplastic syndromes (MDS), myeloproliferative neoplasms (MPN), mixed myelodysplastic/myeloproliferative neoplasms (MDS/MPN), as well as lymphomas and lymphoid leukemias that typically present initially with peripheral blood abnormalities. Within each category, a comprehensive list of differential diagnoses is discussed. For each disease entity, the reader is updated with new molecular genetic data, biomarkers, and recent applications of immunophenotyping, and how to incorporate the new information in disease diagnosis and classifications is illustrated, including the use of diagnostic algorithms where appropriate. The book employs the revised WHO Classification of Hematopoietic Neoplasmsfor all disease entities. Diagnosis of Blood and Bone Marrow Disorders will serve as a very useful resource for pathologists, pathologists in training, hematologists and medical technologists who are involved in the clinical work-up of patients with bone marrow and blood neoplasms. It will provide a practical and concise yet comprehensive review.

Dr. Harold Chen shares his almost 50 years of clinical genetics practice in this new edition of a comprehensive pictorial atlas, featuring almost 290 genetic disorders, malformations, and malformation syndromes. The author provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including recurrence risk, prenatal diagnosis, and management. Numerous color photographs of prenatal ultrasounds, imagings, cytogenetics, and postmortem findings illustrate the clinical features of patients at different ages, patients with varying degrees of severity, and the optimal diagnostic strategies. The disorders cited are supplemented by case histories and diagnostic confirmation by cytogenetics, biochemical, and molecular techniques, when available. Since the publication of the previous edition in 2012, the atlas has been widely accepted and used in light of rapid progress in genetic and gnomic information. In this new edition, additional genetic disorders are added, as well as extensive updates to the previous disorders with new illustrations, supplemented by case and family history, clinical features, and laboratory data, especially molecular confirmation if available. The atlas is written in outline format for ease of use.Atlas of Genetic Diagnosis and Counseling, Third Edition is of great value to medical geneticists, genetic counselors, pediatricians, neonatologists, developmental pediatricians, perinatologists, obstetricians, neurologists, pathologists, and any physicians and health care professionals caring for handicapped children such as craniofacial surgeons, plastic surgeons, otolaryngologists, and orthopedists. It is the definitive volume for helping all physicians to understand and recognize genetic diseases and malformation syndromes and better evaluate, counsel, and manage affected patients.

With hundreds of question and answer items and bite-sized chunks of information that can be read and processed easily, reviewing for the pediatric board exams - or just brushing up in your spare time - has never been easier. Pediatric Tricky Topics, Volume 2: A Practically Painless Review includes review items in pediatric immunology, hematology, oncology, nephrology, urology, dermatology, ophthalmology, otorhinolaryngology, and gynecology, among others. Selected expanded sections provide more in-depth information, while the Q&A format allows for self-testing or study with a partner or a group and is practical and accessible enough to dip into during a few minutes of downtime at the hospital or office. As such, it is suitable for those studying for the pediatric board exam, practicing physicians brushing up their skills, and any busy medical student, nurse or clinician who wants to learn more about these topics while on the go.

This book on rheumatology in children is intended to be a handy tool for all professionals interested in this field. It is divided into five sections: General considerations, arthritic problems, connective tissue diseases, systemic vasculitides and finally a section that covers miscellaneous issues such as Immunodeficiencies, bone heath and uveitis.The book has an easy format with each chapter having one or more clinicalvignettes at the start of the chapter. In addition each chapter outlines the learning objectives and key take home messages. At the end of each section a collection of cases to highlight important issues in the clinic are included. The colorful charts, pictures and tables make reading this book an easy task. The authors are leading experts in their fields working at best practices centers globally to provide the reader with state-of-the-art information.

This book, in Q&A format, addresses a wide range of clinically relevant topics and issues in Nonmalignant Hematology, or “Benign Hematology,” with a view to offering a robust, engaging tool that will assist every hematologist and oncologist (pediatric and adult equally) in making decisions during day-to-day practice. The entire spectrum of the specialty is covered in more than 60 exceptional chapters written by acknowledged authorities in the field. The content is organized into well-designed broad sections on red cell disorders, platelet and coagulation disorders, coagulopathy in systemic diseases, thromboembolic disease and its management (including surgical), immune system and related disorders, hemostasis and thrombosis during pregnancy and in the newborn and elderly, and Transfusion Medicine. A key aspect of the book is the opportunity it affords expert physicians to express well-reasoned opinions regarding complex issues in Nonmalignant Hematology. Readers willfind that it provides a practical and immediately applicable compendium of answers to often complex and vexing questions. It will appeal to residents, fellows, house officers and more experienced practitioners around the globe.

The number of diagnosed cases of primary immunodeficiency diseases (PIDs) – a group of inborn disorders of the immune system – is growing rapidly, but misdiagnosis or late diagnosis still occurs in a significant number of patients, with serious consequences. This is the second edition of a practical reference textbook on PIDs that has been widely welcomed by scientists and clinicians from around the world. The new edition has been extensively revised to reflect advances in knowledge and includes various PIDs not previously covered. For each disease, information is provided on definition, etiology, clinical manifestations, diagnosis, and management. This book will represent an ideal resource for specialists when engaging in diagnosis, clinical decision-making, and treatment planning. It will also prove invaluable for doctors in training and other physicians and nurses who wish to learn more about PIDs.

This highly practical, easy-to-read, fully updated and expanded resource offers a wide range of targeted guidelines and insights in allergy medicine. Written by a leading allergy clinician -- along with a renowned group of nationally recognized expert contributors in allergy and immunology, pulmonary, and infectious diseases -- this title is a proven resource for front-line general practitioners, especially primary care physicians. The most clinically relevant information is provided on the pathophysiology, diagnosis, treatment, and prevention of all major allergic disorders. Each chapter has a section on “Evidence-Based Medicine” that introduces one to two recent research publications on the subject, and several chapters have been written by new authors. Covering the entire scope of adult and pediatric allergy and asthma and organized by specific organ which guides the reader to diagnostic and therapeutic solutions quickly and easily, the book offers a wealth of outstanding illustrations, key concepts, management protocols, and updated references. An invaluable contribution to the field, Allergy and Asthma: Practical Diagnosis and Management, 2nd Edition will be of immense value not only to primary care physicians, but also to fellows in training, residents, nurses, nurse practitioners, and medical and allied health students.

This dictionary provides a comprehensive list of the terms and definitions commonly used in clinical rheumatology and osteology, and the new edition has been extended to include more than 50 additional entries. The book contains systematic descriptions relating to diseases of the locomotor apparatus, including osteoporosis, and important laboratory findings; special reference is made to the immunological parameters, which are essential for correct definition of rheumatologic disorders. Another focus is the general principles of pharmacological treatment, including biologicals and modern therapy. Information is also provided on individual disorders in the field of mineral metabolism and metabolic osteopathies and basic issues in rheumatic surgery. General entries are included from the fields of physical medicine and physiotherapy, including a system of functional assessment. The Dictionary of Rheumatology will be of value for medical students and all who are training in this specialty.

This work is recognised as the standard textbook for professionals involved in the diagnosis and management of inborn errors of metabolism (IEM) and an essential resource in this multidisciplinary field. For the 6th edition all 43 chapters have been newly written or revised by authors with particular expertise in their subject areas. Contents: A clinical and biochemical approach to the recognition and diagnosis of IEM with algorithms to symptoms, signs, and syndromes in patients of all ages; Emergency treatments; Medications – Separate comprehensive sections on IEM of: Carbohydrates; Mitochondrial Energy; Amino and organic acids; Vitamin-responsive defects; Neurotransmitter and Small peptides, Lipid and Bile Acids; Nucleic Acid and Heme; Organelles – Disorders affecting the synthesis and remodelling of complex lipids and fatty acid homeostasis are now included.

This second edition spans four volumes, with major sections dedicated to specific organ systems. Each major section consists of separate chapters dedicated to reviewing the specific disease processes affecting each organ system. Each chapter concludes with a comprehensive list of references, with brief, concise remarks denoting references of ‘special interest'and ‘of interest'. Consequently, the books are unique in their comprehensive coverage of pediatric critical care and their ease of use and will be of value to those studying towards pediatric critical care examinations and those who are already qualified.

Rheumatische Beschwerden sind bei Kindern und Jugendlichen weitaus häufiger als allgemein angenommen. Die Folge: die Beschwerden werden fehlinterpretiert oder falsch behandelt. Krankheitsverläufe und Prognosen unterscheiden sich wesentlich von denen der Erwachsenenrheumatologie. Inzwischen stehen immer bessere Behandlungsmöglichkeiten für rheumatologische Erkrankungen auch bei Kindern zur Verfügung. Dank neuer Medikamente sind die jungen Patienten heute beweglicher und es zeigen sich weniger Folgeschäden wie Wachstumsstörungen, Gelenk- oder Sehschäden. Der richtige Einsatz dieser Mittel setzt aber ein fundiertes Wissen über die Krankheiten, die verwendeten Medikamente und ihre Wirkung im kindlichen Organismus voraus. Dieses Referenzwerk bietet dem Allgemeinpädiater, dem angehenden Facharzt und dem (Kinder-)Rheumatologen umfassende Antworten auf alle Fragen der Entstehung, Diagnostik und Therapie von rheumatologischen Krankheiten bei Kindern und Jugendlichen. Für die 2. Auflage wurden alle Kapitel aktualisiert mit speziellem Fokus auf Relevanz und Nutzen im Alltag des Pädiaters. Besonders wertvoll für den Anwender ist die durchgehend praxisorientierte Darstellung: genaue Angaben zu Therapieempfehlungen und Hinweise zur Evidenz der Therapieverfahren bürgen für einen zuverlässigen und schnellen Behandlungserfolg. Fundierte „State-of-the-Art“-Kinderrheumatologie, praxisbezogen aufbereitet.

This book covers all aspects of chronic radiation syndrome (CRS) based on observations in a unique sample of residents of the Techa riverside villages in the southern Urals who were exposed to radioactive contamination in the 1950s owing to releases of liquid radioactive wastes. The opening chapters discuss the definition and classification of CRS, its epidemiology and pathogenesis and the pathoanatomy of CRS during the development and recovery stages. Clinical manifestations of CRS at the different stages are then described in detail and the dynamics of hematopoietic changes are thoroughly examined. In the following chapters, principles of diagnosis and differential diagnosis are discussed and current and potential treatment options, described. The medical and social rehabilitation of persons with CRS is also covered. This book, which casts new light on the condition, will be of value for all practitioners and researchers with an interest in CRS.

This updated and enlarged second edition is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for clinicians and laboratory personnel alike – reference laboratory data is scattered, and clinical descriptions can be obscure. The new Physician's Guide with the additional more than 600 diseases now featured, documents 1200 conditions grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). It includes relevant clinical findings and highlights the pathological values for diagnostic metabolites. Guidance on appropriate biochemical genetic testing is also provided and established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book is a valuable desk reference for all who deal with inherited metabolic diseases.Chapter 73 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com

Systems Biology represents a new paradigm aiming at a whole-organism-level understanding of biological phenomena, emphasizing interconnections and functional interrelationships rather than component parts. The study of network properties, and how they control and regulate behavior from the cellular to organism level, constitutes a main focus of Systems Biology. This book addresses from a novel perspective a major unsolved biological problem: understanding how a cell works and what goes wrong in pathology. The task undertaken by the authors is in equal parts conceptual and methodological, integrative and analytical, experimental and theoretical, qualitative and quantitative, didactic and comprehensive. Essentially, they unravel the spatio-temporal unfolding of interacting mass-energy and information networks at the cellular and organ levels, as well as its modulation through activation or repression by signaling networks to produce a certain phenotype or (patho)physiological response. Starting with the historical roots, in thirteen chapters this work explores the Systems Biology of signaling networks, cellular structures and fluxes, organ and microorganism functions. In doing so, it establishes the basis of a 21st century approach to biological complexity.

The Atlas of Immunology is a unique pictorial reference, containing more than 1000 illustrations depicting essentially every concept of importance in understanding immunology. Diagrams are included for all levels of understanding; there are some showing basic ideas and others providing a more detailed treatment for specialists. Illustrations in the Atlas range from photographs of historical figures to molecular structures of recently characterised cytokines, major histocompatibility complex molecules, immunoglobulins, and molecules of related interest to immunologists. No other book offers the breadth or detail of illustrated immunological concepts.

SPECIFICITY It is a basic assumption that, for reasons unknown, the constituents of the human body may become antigenic, and then the patient produces antibodies against them. Some autoantibodies are tissue specific (e.g. haemolytic anaemia, pernicious anaemia) whereas others are non-tissue specific (e.g. systemic lupus erythematosus). To prove'autoimmunity'in the strict sense is not an easy task. In any event, the outcome of antigenic stimulation-whether antibody formation or tolerance-seems to depend on the same factors for autoantigens as it does for any other antigen [146]. Rabbits rendered tolerant to bovine serum albumin respond to immunization with human serum albumin, and in doing so frequently produce antibodies that react with bovine serum albumin, which means the termination of tolerance. This is of special interest as a model of autoimmune disease since natural tolerance of body constituents might be terminated by immunization with a cross-reactive antigen from the environment (266]. It cannot be overemphasized how difficult it could be, at least in several in­ stances, to delineate specific from non-specific events in any immunological pro­ cess. Cyclic AMP may be one of the examples for non-specific inducers, whereas thymopoietin (25a ], for instance, induces only the differentiation of cells with thymus-specific antigens. The participation of cells recruited by lymphokines also represents non-specific amplification. Lymphocytes of unrelated specificity con­ tinue to accumulate in experimental autoimmune inflammation after elimination of the specifically sensitized cells that initiated the inflammation [262].

Jetzt komplett überarbeitet und aktualisiert! Nach Erscheinen der 6. Auflage dieses Lexikons wurde das Internationale Human Genome Project abgeschlossen. Durch die Kenntnis der Sequenzen des menschlichen Genoms ist es nun möglich, tiefere Einsichten in die genetischen Grundlagen von Merkmalsausbildung und Krankheits- bzw. Fehlbildungsentstehung beim Menschen zu erhalten. Die vorliegende 7. Auflage stellt eine umfangreiche Neubearbeitung dar, in die die neuesten Forschungsergebnisse mit einfließen. Damit ist das Buch bestens geeignet, eine Brücke zwischen den aktuellen molekulargenetischen und biochemischen Erkenntnissen und der klinischen Ebene sowie der genetischen Familienberatung zu schlagen. Wichtig für den Arzt und unverzichtbar für den in der Familienberatung tätigen Genetiker.

By 1940, immunological mechanisms had been proved to have fundamental influ­ ences on a great number and variety of skin reactions, and skin diseases had brought to light a great number of fundamental immunological mechanisms that were basic to a wide range of different diseases, dermatological and nondermato­ logical. The preeminence of dermatological research in the advancement of immu­ nological knowledge should not astonish anyone. For the skin is not only the most easily accessible tissue for producing and studying immunological reactions, it is also the great organ of protection that meets the first onslaughts of inimical environmental forces and agents-potential enemies, both living and dead. And protection is in essence what immunology is all about. To get an idea of the long-established role that testing the skin and the study of its many reactions has played in advancing general immunology, one need recall only smallpox vaccination; tuberculin testing; testing with fungal extracts; skin testing in hay fever, asthma, and serum sickness; skin tests with toxins and toxoids; the patch test; the passive transfer of skin-adhering antibodies (reagins); skin sensitization by simple chemicals; and similar dermatological procedures that have exerted their influence on medical and scientific disciplines far beyond dermatology.

Die zweite Auflage der Thymuspathologie ist eine konzentrierte aktuelle Darstellung der vielfältigen Erkrankungen des Thymus, welche die modernen Methoden in das diagnostische Repertoire integriert und insbesondere auch klinische Fragestellungen berücksichtigt.'

The material in this text was compiled to serve as a study guide for a review of microbiology and immunology suitable for preparing for Part I of the National Board of Medical Examiners (NBME) exam. I have assumed that you, the reader, have had a comprehensive course covering this discipline. In-depth presentation of material will not be found in this review: You are urged to consult other study aids (lecture notes, textbooks, etc.) for detailed explana­ tions of material that you find troublesome. In general, the text of the book is on the left side of each page; questions, illustrations, summary sentences or phrases, and other study aids are on the right. This format has the intent of getting you involved in the review process. Use a highlighter, put boxes around key statements, answer the questions, and fill in the blanks as you work through the book. Your reward will be proportional to your effort (i.e., no pain, no gain). There are five proficiency examinations in this book, one for each major area of coverage. In addition, a comprehensive examination will be found at the end of the book. Performance data for each is given to help you evaluate your own preparedness. Some questions may cover material not detailed in the book: Be sure that you know the answer to these questions as well, since this is just another form of review.

Atopic eczema is one of the most common dermatologic Altough the etiopathogenesis of the disease has not yet conditions. According to recent data, up to 10% of all been fully elucidated, the large body of data already children may be affected. Particularly in its severe form, available provides important clues for both our atopic eczema is a distressing and even disabling disease. understanding of the disease and for daily patient care. Even the far more frequent minor forms may pose prob­ This Handbook of Atopic Eczema aims to put together lems because of their chronicity or the unpredictable current knowledge on this multifacted disease in the tendency for relapse. Atopic eczema must therefore be most comprehensive way. This volume covers the whole regarded as a major health problem, and it is one that is range of relevant information. Since each topic is dealt today drawing mounting attention, not only from the with by authors expert in that particular field, the up-to­ medical community, but increasingly from the date knowledge provided is not only extensive but also nonmedical public as well. critical. I believe that this Handbook of Atopic Eczema Since atopic eczema first emerged as a disease entity in will not only enhance our ability to treat our patients, but the early decades of this century, it has been the subject will also stimulate our efforts to fully understand this of both extensive research and intense scientific enigmatic disease. controversies.

Fetal and Neonatal Pathology presents in one volume an account of the pathological findings encountered when examining fetuses from the second and third trimester of pregnancy as well as in neonatal death. It provides essential clinical and physiological information and discusses the pathogenesis of pathological findings as a guide to the formulation of the appropriate method of investigation. The book is divided into two parts. The first deals with examination of the products of conception after termination of pregnancy for fetal anomaly. The range of pathological abnormality is described and its relevance discussed. Attention is drawn to the differences in pathological findings in specific conditions between the second and third trimester. The second part of the book is system orientated and describes and illustrates those pathological problems which are likely to be encountered in the fetus and neonate. Each chapter is introduced by a concise account of the development of that system. Where relevant there is also discussion of changes at birth as well as changes in normal function that may occur during the neonatal period. Fetal and Neonatal Pathology is primarily written for the morbid anatomist and histopathologist. It also provides a valuable source of reference for obstetricians, neonatologists and paediatricians. Its value as a working tool of reference is enhanced by effective cross-referencing between sections by both chapter and page number. 1

Graft-versus-host Disease (GvHD) occurs primarily but not exclusively as a complication in the context of allogeneic bone marrow or peripheral blood stem cell transplantation (BMT or PBSCT), the treatment of choice for various life-threatening diseases. GvHD may affect skin, liver, gut, and other organs and sometimes runs a devastating or even lethal course. The diagnosis of GvHD is based on both clinical and histomorphological parameters. However, due to the widespread use of GvHD prophylaxis in patients undergoing allogeneic BMT or PBSCT, the number of histologically typical lesions has decreased, while the number of atypical, low-grade or masked lesions has increased. Therefore, an update of the clinical and diagnostic pathology of GvHD of skin, liver, gastrointestinal tract and other organs is required. In the present volume the histological features of GvHD lesions under today's conditions are described and illustrated in detail. Particular emphasis is placed on differential diagnostic problems and histodiagnostic pitfalls. Finally, the applicability and limits of immunohistological methods for the diagnosis of GvHD are shown.

It was the year of 1969 when this monograph was originally published in Japanese by Professor TADASHI KAWAI, titled as'The Plasma Proteins, Their Fundamental and Clinical Aspects.'After I read through the Japanese edition, I was impressed by its rather complete coverage of the subjects and their detailed descriptions. I have felt that this excellent monograph should be distributed not only among our Japanese scien­ tists but also among many other colleagues throughout the world. I am happy, the­ refore, to know that the English edition of his monograph, partly revised, is ready to be published at this time. Professor KAWAI received his postgraduate medical training in U.S.A. for seven years, and was certified by the American Board of Pathology in both Anatomical and Clinical Pathology in Fall, 1962. Thus, I believe, he is the most suitable fellow for publishing the English edition of this kind.