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Clinical Cases in Primary Immunodeficiency Diseases
Primary immunodeficiency diseases (PIDs) are a heterogeneous group of inherited disorders characterized by different defects in the development and function of the immune system. This book aims to increase the clinical awareness and knowledge of practicing clinicians regarding the diagnosis and management of PIDs. In order to achieve this goal, about 90 cases drawn from real life are presented, along with approximately 300 related questions. The selected case reports are the result of the invaluable cooperation of more than 40 scientists in the field of immunodeficiency. They focus both on the presenting features of patients with PIDs and on the required further investigation and management. Each of the numbered cases is followed by the questions, their answers, and additional discussion. Each question focuses on a particular aspect of the PID under consideration, and the topics covered include clinical diagnosis, laboratory findings, molecular mechanisms, and therapy.
Genomics and Health in the Developing World
Readership: Geneticists and clinicians worldwide in addition to graduate students and researchers interested in populations and genomics
Fetal and Neonatal Physiology E-Book
Fetal and Neonatal Physiology, edited by Drs. Polin, Fox, and Abman, focuses on physiologic developments of the fetus and newborn and their impact on the clinical practice of neonatology. A must for practice, this 4th edition brings you the latest information on genetic therapy, intrauterine infections, brain protection and neuroimaging, and much more. Gain a comprehensive, state-of-the-art understanding of normal and abnormal physiology, and its relationship to disease in the fetus and newborn premature infant, from Dr. Richard Polin and other acknowledged worldwide leaders in the field. Understand the implications of fetal and neonatal physiology through chapters devoted to clinical correlation. Apply the latest insights on genetic therapy, intrauterine infections, brain protection and neuroimaging, and much more. Effectively manage the consequences of intrauterine infections with three new chapters covering intrauterine infection and preterm birth, intrauterine infection and brain injury, and intrauterine infection and chronic lung disease.
Fetal and Neonatal Physiology
Fetal and Neonatal Physiology, edited by Drs. Polin, Fox, and Abman, focuses on physiologic developments of the fetus and newborn and their impact on the clinical practice of neonatology. A must for practice, this 4th edition brings you the latest information on genetic therapy, intrauterine infections, brain protection and neuroimaging, and much more. You'll also have easy access to the complete contents and illustrations online at expertconsult.com. Gain a comprehensive, state-of-the-art understanding of normal and abnormal physiology, and its relationship to disease in the fetus and newborn premature infant, from Dr. Richard Polin and other acknowledged worldwide leaders in the field. Und...
Fetal and Neonatal Physiology
Offering the comprehensive, authoritative information needed for effective diagnosis, treatment, and management of sick and premature infants, Fetal and Neonatal Physiology, 6th Edition, is an invaluable resource for board review, clinical rounds, scientific research, and day-to-day practice. This trusted two-volume text synthesizes recent advances in the field into definitive guidance for today’s busy practitioner, focusing on the basic science needed for exam preparation and key information required for full-time practice. It stands alone as the most complete text available in this complex and fast-changing field, yet is easy to use for everyday application. Offers definitive guidance on...
JIMD Reports - Case and Research Reports, 2011/3
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
Primary Immunodeficiency Diseases
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.
The Peroxidase Multigene Family of Enzymes
In September 1998 experts from 19 countries came together for an interdisciplinary discussion of the function of animal peroxidases, a family of enzymes embracing myeloperoxidase, eosinophil peroxidase, thyroid peroxidase and lactoperoxidase. Their papers have been updated for publication, yielding a wide-ranging overview of the state of the art. The chapters cover a wide range of topics, including three-dimensional structure of representative family members, their biosynthesis and intracellular transport, mechanism of action as well as applications to clinical medicine. They are of clinical relevance in, for example, arteriosclerosis, multiple sclerosis, infections, tumorigenesis, rheumatic diseases and hypothyroidism. This book forms an excellent introduction for anyone interested in the peroxidase family of enzymes.
