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Books > Medicine > Pre-clinical medicine: basic sciences > Medical genetics
Sickle cell and thalassaemia are among the world's most common genetic conditions. They are especially common in Africa, Brazil, the Caribbean, the Middle East and Asia. They affect all ethnic groups but they particularly impact on minority ethnic groups in North America, Europe and Australasia. Much research has focused on clinical, laboratory and genetic studies of these conditions. Through a wide-ranging selection of readings based on social scientific research into sickle cell and thalassaemia, this book seeks to redress this imbalance. This is important as, through an examination of the different social, economic and cultural contexts of the lives of people living with sickle cell or thalassaemia, the contributors demonstrate that people are more than the sum of their genes and that their life experiences are rarely derived solely from the clinical severity of their condition but depend on the social context of their lives. Genetics and Global Public Health presents a new concluding chapter which highlights the critical nature of social science research for sickle cell and thalassaemia communities, providing key insights into the social contexts of human behaviour and analysing how societal arrangements could change to assist people living with either condition. It will be of great interest to postgraduate and research students as well as professionals working in the field of public health. This book was originally published as a special issue of the journal Ethnicity and Health.
Cancer Genetics is a collection of chapters covering the key recent developments in cancer genetics which have an impact on clinical care. The target audience will be physicians and scientists who need to be apprised on the most recent developments in the field.
Multipotent mesenchymal stem cells (MSCs) are a heterogeneous population of cells which reside in a variety of tissues. They differentiate into several mesodermal lineages, secrete a multitude of trophic factors and contribute to tissue homeostasis. MSCs are able to exert immunosuppressive activities by interfering with inflammatory cytokine production and with T- and B-cell proliferation. These immunomodulating properties make MSCs promising candidates for the treatment of chronic inflammatory and autoimmune disorders. There are, however, certain caveats involved including inappropriate migration of cells in the body, immune rejection, tumor formation, or graft versus host disease (GvHD). This book investigates the current state of the MSC-dependent therapy of chronic inflammatory disorders and autoimmune diseases. Among the covered topics are GvHD, chronic kidney, liver and lung disease, ischemic heart and inflammatory bowel disease, diabetes, osteoarthritis, various rheumatic and neurological disorders and, lastly, tumors and solid organ transplantations. This book also questions the immunoprivileged status of MSCs, discusses the therapeutic role of MSCs in experimental animal disease models and their translation to the corresponding human disorders, envisions a role for MSCs in tumor interventions and, lastly, describes a systems biology approach for stem cells and inflammation.
Intriguing new findings on how genes and environments work together through different stages of life take the spotlight in this significant collection. Studies from infancy to late adulthood show both forces as shaping individuals' relationships within family and non-family contexts, and examine how these relationships, in turn, continue to shape the individual. Transitional periods, in which individuals become more autonomous and relationships and personal identities become more complicated, receive special emphasis. In addition, chapters shed light on the extent to which the quantity and quality of genetic and environmental influence may shift across and even within life stages. Included in the coverage: Gene-environment interplay in parenting young children. The sibling relationship as a source of shared environment. Gene-environment transactions in childhood and adolescent problematic peer relationships. Toward a developmentally sensitive and genetically informed perspective on popularity. Spouse, parent, and co-worker: roles and relationships in adulthood. The family system as a unit of clinical care: the role of genetic systems. Behavioral geneticists, clinical psychologists, and family therapists will find in Gene-Environment Interplay in Interpersonal Relationships across the Lifespan a window into current thinking on the subject, new perspectives for understanding clients and cases, and ideas for further study.
Toxicogenomics is a new multidisciplinary field concerned with elucidating how the entire genome is involved in biological responses of organisms exposed to environmental toxicants and stressors. Toxicogenomics combines information from studies of genomic-scale mRNA profiling by microarray analysis, cell-wide or tissue-wide protein profiling (proteomics), genetic susceptibility related to single nucleotide polymorphism, and computational models to understand the roles of gene-environment interactions. This book makes a valuable addition to the laboratory bookshelf of all scientists and practitioners studying toxicology, environmental science, drug development, and pharmaceutical safety. As toxicogenomics makes a revolutionary impact on environmental health, drug safety, and risk assessment in 21st-century toxicology, this volume serves as an essential sourcebook.
There are now compelling human epidemiological and animal experimental data that indicate the risk of developing adult-onset complex diseases and neurological disorders are influenced by persistent epigenetic adaptations in response to prenatal and early postnatal exposures to environmental factors. Epigenetics refers to heritable changes in gene function that occur without a change in the sequence of the DNA. The main components of the epigenetic code are DNA methylation, histone modifications, and non-coding RNAs. The epigenetic programs are established as stem cell differentiate during embryogenesis, and they are normally faithfully reproduced during mitosis. Moreover, they can also be maintained during meiosis, resulting in epigenetic transgenerational disease inheritance, and also potentially introducing phenotypic variation that is selected for in the evolution of new species. The objective of this two volumebook is to provide evidence that environmental exposures during early development can alter the risk of developing medical conditions, such as asthma, autism, cancer, cardiovascular disease, diabetes, obesity, and schizophrenia later in life by modifying the epigenome. Consequently, epigenetic research promises to markedly improve our ability to diagnosis, prevent, and treat the pathological conditions of humans; however, it also introduces unique legal and ethical issues. This volume highlights the correlation between environmental factors and complex diseases, such as autism, addiction, neurological diseases, diabetes, obesity and cancer. It concludes with a chapter on legal and ethical implications of epigenetics. "
The present book gives an overview on the similarities and differences of the various translation systems. Moreover, it highlights the mechanisms and control of translation in mitochondria and other organelles such as chloroplasts, plastids and apicoplasts in different organisms. Lastly, it offers an outlook on future developments and applications that might be made possible by a better understanding of translation in mitochondria and other organelles. "
This book explores the major cytokines, such as IL-1 and IFN- , with respect to the regulation of their gene expression and protein production in specific immune cell types. It discusses both healthy physiological settings and in pathological situations in which the expression of some cytokines could be dysregulated, resulting in either immunodeficiency or exacerbated inflammatory sequelae in animal models as well as in human patients. Cytokines are important regulators of immune responses that require the highly coordinated participation and communication of multiple cell types. The expression of cytokines by various producer cell types is therefore carefully regulated in response to environmental cues at multiple levels: transcription, translation and posttranslational modification. Presenting cutting-edge advances in our understanding of the regulation of cytokine expression, this book is a valuable resource for anyone involved or interested in immune regulation.
The past decades have seen a rapid development and increasing
development of genetic tests. This development will have a major
social, political and ethical impact on society.
2. The Translational Machinery . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 5 Translation Initiation in Prokaryotes . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6 Translation Initiation in Eukaryotes . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 8 14 Translation Elongation . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Translation Termination in Prokaryotes . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 16 Translation Termination in Eukaryotes . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 17 Error Correction in Translation . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 18 A Structural Basis of Error Correction in Translation . . . . . . . . . . . . . . . . . . . . . . . . . . 20 Ribosome Editing: A Failsafe Error Correction Mechanism . . . . . . . . . . . . . . . . 22 Conclusions . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 22 3. Errors During Elongation Can Cause Translational 29 Frameshifting . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Spontaneous Frameshifting Versus Programmed Frameshifting . . . . . . . . . . 30 Spontaneous Frameshifts Can Be Induced at Specific Codons . . . . . . . . . . . . 31 4. Programmed +1 Frameshifting . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 41 The pifE Gene of E. coli . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 41 Using the pifE System to Study General Frameshifting in E. coli . . . . . . . . 46 Ty Retrotransposons in Yeast . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 47 Frameshifting in Retrotransposon Ty1 Occurs by tRNA Slippage . . . . . . . 48 Frameshifting in Retrotransposon Ty3 Occurs by Out-of-Frame Binding of tRNA . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 51 The Rat Ornithine Decarboxylase Antizyme Gene . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 56 Summary . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 62 5. Programmed -1 Frameshifting in Eukaryotes . . . . . . . . . . . . . . . . . . . . . . . . . . . 69 Programmed -1 Frameshifting in Eukaryotes . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 69 -1 Frameshifting Occurs on a "Slippery Heptamer" . . . . . . . . . . . . . . . . . . . . . . . . . . . 71 The Simultaneous-Slippage Model . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 72 of -1 Frameshifting by a Downstream Pseudoknot . . . . . . . . . . 77 Stimulation Does the Pseudoknot Only Block Passage of the Ribosome? . . . . . . . . . .
Aberrant expression and function of microRNAs (miRNAs) in cancer have added a new layer of complexity to the understanding of development and progression of the disease state. It has been demonstrated that miRNAs have a crucial function in oncogenesis by regulating cell proliferation and apoptosis as oncogenes or tumor suppressors. The expression signatures of miRNAs provide exciting opportunities in the diagnosis, prognosis and therapy of cancer. Since miRNAs can function as either oncogenes or tumor suppressor genes in oncogenesis, the potential of using these small RNAs as therapeutic targets opens up new opportunities for cancer therapy by either inhibiting or augmenting their activity.
"Between the Lines of Genetic Code "lays out methodologies and tools for the measurement and evaluation of gene-gene and gene-environment studies and gives perspective on the future of this discipline. The book begins by defining terms for interaction studies, describing methodologies, and critically assessing the viability of current study designs and the possibilities for integrating designs. It then provides recent applications data with case studies in rheumatoid arthritis, multiple sclerosis, myositis and other complex human diseases. Last, it examines current studies and directions for future applications in patient care. Recent multivariate studies show that gene-gene and
gene-environment interactions can explain significant variances in
inheritance that have previously been undetectable in univariate
analysis. These links among genes and between genes and their
environments during the development of diseases may serve as
important hints for understanding pathogenic mechanisms and for
developing new tools for prognosis, diagnosis, and treatment of
various diseases.
-Integration of Systems Biology with Bioprocess Engineering: L-Threonine Production by Systems Metabolic Engineering of Escherichia Coli, By Sang Yup Lee and Jin Hwan Park; -Analysis and Engineering of Metabolic Pathway Fluxes in Corynebacterium glutamicum, By Christoph Wittmann; -Systems Biology of Industrial Microorganisms, Marta Papini, Margarita Salazar, and Jens Nielsen; -De Novo Metabolic Engineering and the Promise of Synthetic DNA, By Daniel Klein-Marcuschamer, Vikramaditya G. Yadav, Adel Ghaderi, and Gregory N. Stephanopoulos; -Systems Biology of Recombinant Protein Production in Bacillus megaterium, Rebekka Biedendieck, Boyke Bunk, Tobias Furich, Ezequiel Franco-Lara, Martina Jahn, and Dieter Jahn; -Extending Synthetic Routes for Oligosaccharides by Enzyme, Substrate and Reaction Engineering; By Jurgen Seibel, Hans-Joachim Jordening, and Klaus Buchholz; -Regeneration of Nicotinamide Coenzymes: Principles and Applications for the Synthesis of Chiral Compounds; By Andrea Weckbecker, Harald Groger, and Werner Hummel;
The dramatic recent expansion in genomic information has motivated the development of new approaches to characterize gene expression and function. A critical issue for both basic and clinical endocrinologists is the physiological role of genes involved in regulating endocrine functions. Transgenic technologies allow the translation of genotypic information into specific phenotypes by using gene overexpression or loss of specific gene functions. Murine functional genomics is thus of central importance in modem biomedical endocrine research. Although mice are at present, the preferred mammalian species for genetic manipulations because of the availability of pluripotent embryonic. stem cells and inbred strains and the relatively low breeding and maintenance costs, transgenic rats have also been generated and used to study endocrine physiology. The two basic techniques used in the creation of transgenic animal models are integration of foreign DNA into a fertilized oocyte by random chromosomal insertion and homologous recombination in embryonic stem cells that are then introduced into zygotes. Transgenic mice and rats serve as sophisticted tools to probe protein function, as models of human disease, and as hosts for the testing of gene replacement and other therapies. Embryonic stem cell libraries for mouse gene deletion are being developed, which will make it possible to generate knockout mice rapidly and without the need to analyze gene structure, construct targeting vectors, and screen embryonic stem cell clones. A novel approach to transgenesis for the expression of DNA within adult differentiated neuroendocrine cells in vivo is using viral vectors.
The physiological genomics of the cardiovascular system studies the relationship between gene and physiological (dys)function. It is a rapidly developing area of research and distinguishes itself from other areas of molecular medicine by its highly integrative nature. In this multi disciplinarian area of the physiological sciences, there is interaction between gene structure and physiological cardiovascular function as well as interactions between the different organs and their physiological compartments. The mouse has played a central role in the study of genomics due to the detailed knowledge of the mouse genome and the wide availability of genetically modified mice. In the past, the mouse had mainly been used in the area of immunology and molecular biology, and physiological interest in the mouse was scarce. As more insight has come into the structural genomics of the mouse, however, it has become increasingly important to understand the relation between gene and physiological function. With this in mind we have been organizing the Amsterdam Mouse Symposia to bring together different disciplines interested in the molecular basis of cardiovascular function (see J. of Clinical and Exp. Pharmacology and rd Physiology (2002) 29: A69-AI02 for the proceedings of the 3 Amsterdam Mouse Symposium and Basic Research in Cardiology (2000) 95:492-535 for nd the proceedings of the 2 symposium)."
Homologous recombination is important in various aspects of DNA metabolism, including damage repair, replication, telomere maintenance, and meiosis, and yeast genetics has successfully provided a framework for the mechanism of homologous recombination. Divided into four convenient sections, DNA Recombination: Methods and Protocols covers recent techniques that best utilize the advantages of the yeast system, prescribing to the belief that yeast will keep serving as a great model organism to study homologous recombination. Chapters have also been included for such exceptions as the group of genes involved in recombination that are found solely in higher eukaryotes, such as BRCA2. And looking forward, a necessary step in the direction of understanding the homologous recombination process is to isolate the machine and let it work in a test tube. Understanding the design by studying the appearance and behavior of the machinery as a single molecule will be an important milestone toward understanding the mechanism of action of the machinery. Techniques covering these topics have also been included. Written in the 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 protocols, and notes on troubleshooting and avoiding known pitfalls. Authoritative and easily accessible, DNA Recombination: Methods and Protocols serves as an ideal guide to scientists of all backgrounds with its well-honed methodologies and strives to bring the reader to the next level of understanding regarding this vital subject.
The book that you hold in your hands is the second in a series. The two titles in the series are the following: Genetic Influences on Human Fertility and Sexuality: Theoretical and Empirical Contributions from the Biological and Behavior Sciences Edited by Joseph Lee Rodgers, David C. Rowe, & Warren B. Miller Published by Kluwer Academic Press, 2000 The Biodemography of Human Reproduction and Fertility Edited by Joseph Lee Rodgers & Hans-Peter Kohler Published by Kluwer Academic Press, 2002 The series has published chapters by researchers who study human fertility, from a particular perspective: Biodemography. We welcome your interest and participation in this developing subfield. Or, perhaps, biodemography may be better referred to as a "superfield. " Because biodemography so naturally crosses interdisciplinary boundaries, and because its application draws together researchers from disparate disciplines, it may well be more appropriate to consider that biodemography subsumes a number of other disciplines, rather than the other way around. In this preface, we will describe our own efforts and those of many others to promote and develop the study of human fertility, using methods, models, and theories from both biological and demographic domains. In December, 1997, 25 participants from three different countries gathered in Tucson, Arizona for a small conference with the title "Genetic Influences on Fertility-Related Processes. " That conference represented a fascinating blending of research from two apparently separate domains.
While there has been an increasing number of books on various aspects of epigenetics, there has been a gap over the years in books that provide a comprehensive understanding of the fundamentals of chromatin. Chromatin is the combination of DNA and proteins that make up the genetic material of chromosomes. Its primary function is to package DNA to fit into the cell, to strengthen the DNA to prevent damage, to allow mitosis and meiosis, and to control the expression of genes and DNA replication. The audience for this book is mainly newly established scientists and graduate students. Rather than going into the more specific areas of recent research on chromatin the chapters in this book give a strong, updated groundwork about the topic. Some the fundamentals that this book will cover include the structure of chromatin and biochemistry and the enzyme complexes that manage it.
Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Hematologic, Renal, and Immunologic Disorders, Seventh Edition thoroughly examines medical genetics and genomics as applied to hematologic, immunologic and endocrinologic disorders, with an emphasis on understanding the genetic mechanisms underlying these conditions, diagnostic approaches, and treatment methods. Here, genetic researchers, students and health professionals will find new and fully revised chapters on the genetics of red blood cell diseases, rhesus and other fetomaternal incompatibilities, immunodeficiency disorders, inherited complement deficiencies, celiac disease, and diabetes mellitus, as well as thyroid, parathyroid and gonad disorders, among other conditions. With regular advances in genomic technologies propelling precision medicine into the clinic, this book, which has served as the ultimate resource for clinicians integrating genetics into medical practice, continues to provide the most important information. With nearly 5,000 pages of detailed coverage, contributions from over 250 of the world's most trusted authorities in medical genetics, and a series of 11 volumes available for individual sale, this updated edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies.
Human neurological and neuromuscular disorders caused by nucleotide expansion are the focus of growing interest of practicing physicians and of interested biomedical researchers. This volume represents a comprehensive and up-to-date description of many of the better-studied disorders. The authors discuss molecular, clinical and pathological aspects of the diseases as well as our current understanding of their underlying mechanisms.
Neuropsychiatric disorders such as schizophrenia, mood disorders, Alzheimer s disease, epilepsy, alcoholism, substance abuse and others are one of the most debilitating illnesses worldwide characterizing by the complexity of the causes, and lacking the laboratory tests that may promote diagnostic and prognostic procedures. Recent advances in neuroscience, genomic, genetic, proteomic and metabolomic knowledge and technologies have opened the way to searching biomarkers and endophenotypes, which may offer powerful and exciting opportunity to understand the etiology and the underlying pathophysiological mechanisms of neuropsychiatric disorders. The challenge now is to translate these advances into meaningful diagnostic and therapeutic advances. This book offers a broad synthesis of the current knowledge about diverse topics of the biomarker and endophenotype strategies in neuropsychiatry. The book is organized into four interconnected volumes: Neuropsychological Endophenotypes and Biomarkers (with overview of methodological issues of the biomarker and endophenotype approaches in neuropsychiatry and some technological advances), Neuroanatomical and Neuroimaging Endophenotypes and Biomarkers, Metabolic and Peripheral Biomarkers and Molecular Genetic and Genomic Markers . The contributors are internationally and nationally recognized researchers and experts from 16 countries. This four-volume handbook is intended for a broad spectrum of readers including neuroscientists, psychiatrists, neurologists, endocrinologists, pharmacologists, clinical psychologists, general practitioners, geriatricians, health care providers in the field of neurology and mental health interested in trends that have crystallized in the last decade, and trends that can be expected to further evolve in the coming years. It is hoped that this book will also be a useful resource for the teaching of psychiatry, neurology, psychology and mental health. "
advanced metastatic disease of solid tumors, dictates that each tumor mass, indeed each individual metastasis, will have a unique antigen and cytokine environment and hence unique response to immune modu lation. A differential response to immunotherapy is thus inevitable. 4. Many of the human trials described are not randomized and report survival or response against historical controls. Most tumors described are immunogenic human tumors: renal cell cancer and melanoma are most common. In order to avoid the well-described inter-patient vari ation and rare incidence of spontaneous response among patient samples as well as selection bias and changes in practice over time, randomized trials are required. 5. Immunological treatment is unlike conventional chemotherapy in its endpoint. Most chemotherapeutic regimes require a complete response or a good partial response for cure or good palliation. There are now many cases where immunotherapy has provided long-term palliation without massive tumor reduction. Immunity may be stimulated to a degree which holds tumorigenicity in check and most importantly, pro vides good palliation for the patient in a manner that differs essentially from chemotherapy."
Epigenetics fine-tunes the life processes dictated by DNA sequences, but also kick-starts pathophysiological processes including diabetes, AIDS and cancer. This volume tracks the latest research on epigenetics, including work on new-generation therapeutics.
Once a tedious, highly skilled operation, reverse-transcription polymerase chain reaction (RT-PCR) has become a routine and invaluable technique used in most laboratories. In RT-PCR Protocols, Second Edition, expert researchers fully update the technologies presented in the popular previous edition, such as competitive RT-PCR, nested RT-PCR, RT-PCR from single cells, and RT-PCR for cloning. In addition, newer technologies are also explored, including multiplex RT-PCR, RT-LATE-PCR, and the greatly advanced field of real-time quantitative RT-PCR, while recent advances in creating the optimum RT-PCR reaction, e.g. RNA extraction, primer design, and reverse transcription, end the book with their indispensable input. Written in the highly successful Methods in Molecular Biology series format, chapters include brief introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible protocols, and notes sections, highlighting tips on troubleshooting and avoiding known pitfalls. User friendly and up-to-date, RT-PCR Protocols, Second Edition acts as a handy companion to scientists from numerous diverse backgrounds who wish to explore further the marvels of gene expression.
The rapid pace of microRNA (miRNA) research continues to drive the advances of techniques for miRNA expression profiling, and innovative technologies that are more sensitive, specific, quantitative, and that are compatible with a wide range of biospecimens have been developed during the past few years. In Next-Generation MicroRNA Expression Profiling Technology: Methods and Protocols, expert researchers in the field contribute detailed examinations of the most current approaches being used today. This volume includes comprehensive coverage of methodologies that have been developed for miRNA profiling, as well as next-gen sequencing technology, miRNA databases, and specialized applications, such as cancer studies and miRNA-based non-invasive biomarker development. Written in the highly successful Methods in Molecular Biology (TM) series format, chapters feature 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. Authoritative and cutting-edge, Next-Generation MicroRNA Expression Profiling Technology: Methods and Protocols provides an ideal guide for novices and experts alike who are seeking to utilize these powerful technologies. |
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