This book focus on genetic diagnostics for Uniparental Disomy (UPD), a chromosomal disorder defined by the exceptional presence of a chromosome pair derived from only one parent, which leads to a group of rare diseases in humans. First the molecular and cytogenetic background of UPD is described in detail; subsequently, all available information of the various chromosomal origins and the latest findings on genotype-phenotype correlations and clinical consequences are discussed. Numerous personal reports from families with a child suffering from a UPD-induced syndrome serve to complement the scientific and clinical aspects. Their experiences with genetic counseling and living with a family member affected by this chromosomal aberration present a vivid picture of what UPD means for its victims.

Biobanking, an emerging field supported by academia, industry and health administrators alike, is distinctly different today from the practice that once defined it. The science of Biobanking, which initially involved simply storing blood or tissue samples in a freezer, is now a highly sophisticated field of research, and expected to grow exponentially over the next decade or two. This book aims to serve the purpose of further enriching the available literature on Biobanking, by offering unique and more useful collection of ideas for the future. The book outlines the experiences of developing modern Biobanking repositories in different countries, whilst covering specific topics regarding the many aspects of Biobanking. This book will be of interest to a wide range of readers including: academics, students, volunteers and advocates of patients' rights.

Plasmodium falciparum malaria is responsible for the deaths of nearly 500,000 people each year. Much attention has been paid to antibody and cellular mechanisms of immunity against this pathogen. By contrast, the role that the complement system plays in immunity and pathogenesis in this infection is not very well recognized or understood. Based on the work of a number of research groups, we know that complement plays an important role in these processes. In this book, some of the leading scientists in the field discuss the mechanisms of complement activation during malaria infection as well as the role of complement in the pathogenesis of key syndromes such as severe malarial anemia, cerebral malaria, and placental malaria. In addition, they review recently-identified complement evasion strategies of P. falciparum merozoites, and how these mechanisms may translate into paradoxical enhancement of infection rather than protection. Finally, they also discuss the role of the mosquito complement system on immunity against the parasite.

The prognosis of a disease often depends on the timing of therapeutic invention, which in turn strongly relies on a reliable and quick diagnosis. Laboratory diagnostic pathways are algorithms that give structure to the diagnostic process, thereby minimizing the risk of mistreatment, shortening the hospital stay, and lowering the cost for treatment. This book offers 70 diagnostic algorithms that lead physicians and laboratory personnel through the diagnostic process in a step-by-step fashion. In Part One, general basics, infrastructure, and economic aspects are discussed and tipps for implementation are given. Part Two introduces screening methods for cases without a suspected diagnosis as well as specific pathways for stepwise diagnosis of the most common diseases, accompanied by information on pathophysiology, preanalytical measures, implementation, and interpretation of results.

Expert authors provide critical, in-depth reviews of available methods for retrieving selective information out of complex biological systems. Sensors, probes and devices are present and future tools of medicinal diagnostics, environmental monitoring, food analysis and molecular biology. These are based on fluorescence, electrochemistry and mass spectrometry. Coverage of this volume includes sensor development for the detection of small analytes, monitoring of biomolecular interactions, analysis of cellular function, development of diagnostic tools.

Various aspects, including diagnosis, therapy, and prognosis, of two brain tumors (meningioma and schwannoma) , of brain tumors are discussed in this volume. Insights on the understanding of molecular pathways involved in brain tumor biology are explained. For example, the role of E-cadherin gene instability, carbonic anhydrase 11, urokinase plasminogen activator, and Wnt signaling is discussed in detail. Such information will lead to the development of effective aniicancer drugs. The role of molecular genetics and epigenetic mechanisms in schwannomas is explained. Also, is explained the role of cyclin D1 in vestibular schwannoma. The determination of subtypes of meningiomas using perfusion magnetic resonance imaging is explained. Diagnosis of incidentally discovered meningioma and cystic papillary meningioma is also included. Diagnosis of facial nerve schwannoma, vestibular schwannoma, and intermediate nerve schwannoma is explained. Treatments for atypical meningioma, oncocytic meneingioma, intracranial meningioma, and cavernous are presented. Therapeutic methods such as neurosurgery, Gamma knife radiosurgery, and adjuvant radiation for this cancer are included. Large number of other treatments, including radiosurgery, retrosigmoidal craniotomy, and immunotherapy, for vestibular schwannoma patients are detailed.

Ion-selective electrodes (ISEs) have a wide range of applications in clinical, environmental, food and pharmaceutical analysis as well as further uses in chemistry and life sciences. Based on his profound experience as a researcher in ISEs and a course instructor, the author summarizes current knowledge for advanced teaching and training purposes with a particular focus on ionophore-based ISEs. Coverage includes the basics of measuring with ISEs, essential membrane potential theory and a comprehensive overview of the various classes of ion-selective electrodes. The principles of constructing ISEs are outlined, and the transfer of methods into routine analysis is considered. Advanced students, researchers, and practitioners will benefit from this expedient introduction.

Reflecting the development of powerful new tools and high-throughput methods to analyze adenoviral particles and their interactions with host cells, the third edition of Adenovirus Methods and Protocols calls upon experts in the field to convey advances in molecular biology, genomics and proteomics, imaging, and bioinformatics. Beginning with cryo-electron microscopy, atomic force microscopy, and mass spectrometry for a high resolution image and characterization of the virion, this detailed book then continues with capsid modifications and viral-like particles as promising alternatives to classical adenovirus vectors, and the study of adenovirus in host interactions in vitro at the cellular level as well as in vivo in animal models. Finally, the volume concludes with an extensive update of the most efficient protocols to generate, amplify, and/or purify, at small and large scale, standard human Ad5 as well as non-human, chimeric, and helper-dependent adenovirus vectors. Written in the greatly 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 cutting-edge, Adenovirus Methods and Protocols, Third Edition serves as an ideal guide for scientists continuing to research this highly valuable viral tool.

The earliest descriptions of human chromosomes initiated the genomics revolution that is now upon us. Array Comparative Genomic Hybridization: Protocols and Applications explores the scope of what is now possible as far as documenting abnormalities associated with several human cancers. While the technology for interrogating the human genome continues to evolve, refinement of comparative genomic hybridization (CGH) using array CGH and related technologies have provided enormous insight into human cancers at an affordable scale. 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, Array Comparative Genomic Hybridization: Protocols and Applications provides researchers with well-honed methodologies to learn these techniques for their own use in research or clinical diagnostic laboratories.

This detailed volume presents a set of protocols useful for researchers in the field of recombinant immunoglobulin and alternative scaffold engineering, aptamer development, and generation of molecularly imprinted polymers (MIPs). Part I includes methods that deal with amino-acid based synthetic antibodies. Brief protocols about the generation of antibody libraries are detailed, as well as techniques for antibody selection, characterization, and validation. This section is completed by a brief description of a bioinformatics platform that supports antibody engineering during research and development. Part II contains basic procedures about the selection and characterization of aptamer molecules, and Part III describes fundamental processes of MIP generation and application. Written for the highly successful Methods in Molecular Biology series, 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. Authoritative and practical, Synthetic Antibodies: Methods and Protocols is an ideal guide for scientists seeking to propel the vital study of antibody research.

Micro and Nano Flow Systems for Bioanalysis addresses the latest developments in biomedical engineering at very small scales. It shows how organic systems require multi-scale understanding in the broadest sensewhether the approach is experimental or mathematical, and whether the physiological state is healthy or diseased. Micro-and nano-fluidics represent key areas of translational research in which state-of-the-art engineering processes and devices are applied to bedside monitoring and treatment. By applying conventional micro- and nano-engineering to complex organic solids, fluids, and their interactions, leading researchers from throughout the world describe methods and techniques with great potential for use in medicine and clinical practice. Coverage includes the seeming plethora of new, fine-scale optical methods for measuring blood flow as well as endothelial activation and interaction with tissue. Generic areas of modeling and bioelectronics are also considered. In keeping with the recurring theme of medicine and clinical practice, approximately half of the chapters focus on the specific application of micro- and nano- flow systems to the understanding and treatment of cancer and cardiovascular diseases. This book developed from an Expert Overview Session on "Micro & Nano Flows in Medicine: the way ahead" at the 3rd Micro and Nano Flows Conference (MNF2011) held in Thessaloniki, Greece. Additional chapters were included to enhance the international, state-of-the-art coverage.

This updated volume explores a wide variety of clinical applications of PCR such as detecting DNA methylation, detection of viruses and protozoa in infectious diseases, estimation of gene copy number aberrations, primer extension coupled with mass spectroscopy, and high throughput NGS techniques. The application of PCR has shown incredible value in the study of genomics and transcriptomics, not only for discovery but also for routine clinical applications, and it forms the cornerstone of personalized medicine. Written for the highly successful Methods in Molecular Biology series, chapters include brief 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. Thorough and authoritative, Clinical Applications of PCR, Third Edition serves as an ideal guide for researchers aiming to understand the principles behind each application and for their implementation in the laboratory.

In a unique way, the laboratory professionalist's knowledge about the molecular diagnostics of infectious diseases is connected with the clinician's practical experience. The increasing prevalence of infectious diseases makes correct diagnosis, ordering the right tests, quality control and correct interpretation of the results even more important. The possible pathogens are discussed in the second part according to the specific symptoms or to where the infection is located in the body.

Features:

* For clinicians and laboratory professionalists

* Up-to-date diagnostics of all infectious diseases

* Molecular diagnostics, diseases, choice of methods

* Specific pathogens in alphabetic order

* Tables and flow charts

The atlas of the Light and Specular Microscopy of the Cornea, particularly of the corneal endothelium presents photographs of healthy and pathological corneas, as well as corneas prepared for grafting. Photographs are taken from donor or patient's corneas. The first part section of the atlas shows healthy corneas and its particular layers: the epithelium (superficial and basal cells, subepithelial nerve plexus), stroma and keratocytes, and the endothelium. Blood vessels or palisades of Vogt in limbus are shown as well. The second part section that shows corneas processed for grafting is focused focuses on the endothelial layer. Main causes of exclusion of corneas from grafting, such as the presence of dead cells, polymeghatism, pleomorphism, cornea guttata or stromal scars have been shown. The third part section of the atlas shows corneas before and after storage in tissue cultures or hypothermic conditions with the aim to assess its suitability of for tissue for grafting. The last final section contains photographs of pathological corneal explants

Psychoneuroimmunology (PNI) has developed rapidly in the last four decades. As a multidisciplinary area, PNI may provide a scientific basis for mind-body relationships toward the development of personalized and systems medicine. In Psychoneuroimmunology:Methods and Protocols, expert researchers in the field detail methods and protocols geared toward the development of integrative and individualized therapeutics in multiple dimensions from drugs to behaviors. Written in the highly successful Methods in Molecular Biology (TM) series format, the chapters include the kind of detailed description and implementation advice that is crucial for getting optimal results in the laboratory. Thorough and intuitive, Psychoneuroimmunology:Methods and Protocols aids scientists in continuing to study holistic views for the translation of psychoneuroimmunology into better preventive and personalized medical practice.

Over the past decade, major advancements in the understanding of the molecular mechanisms and pathophysiology of pulmonary hypertension occurred in parallel with the discovery and development of new therapies. Pharmacological agents that modulate the main pathophysiological pathways of pulmonary arterial hypertension have changed the course of this devastating disease by relieving symptoms and improving and prolonging patients lives.

The first part of the book covers definition, classification, pathophysiology, pathology, biomarkers and animal models of pulmonary hypertension, thus laying the conceptual basis for what follows. The middle section provides an overview of the established therapies, such as calcium channel blockers, prostanoids, endothelin receptor antagonists, phosphodiesterase-5 inhibitors and inhaled nitric oxide. The concluding section explores novel pathways and emerging therapeutic approaches including soluble guanylate cyclase stimulators, Rho-kinase inhibitors, inhibitors of serotonin receptors and transporters, peptide growth factors, vasoactive peptides, modulators of redox equilibrium and cyclic nucleotides homeostasis, as well as immunosuppressive and anti-proliferative agents. Particular attention is given to clinical applications of these experimental therapies. "

About 8000 clinical trials are undertaken annually in all areas of medicine, from the treatment of acne to the prevention of cancer. Correct interpretation of the data from such trials depends largely on adequate design and on performing the appropriate statistical analyses. In this book, the statistical aspects of both the design and analysis of trials are described, with particular emphasis on recently developed methods of analysis.

Therapeutic regimens for visceral leishmaniasis (also Kala-azar, Dum-dum fever or black fever), caused by parasitic protozoa of the Leishmania genus, evolve at a pace never seen before. Spread by tiny and abundant sand flies, the parasite infects internal organs and bone marrow and if left untreated will almost always result in the death of the host. In developing countries successful diagnosis and treatment are complicated by asymptomatic cases, undernutrition and Kala-azar/HIV co-infections.

This book brings together world-renown experts writing state-of-arts review on the progress in diagnosis and treatment of visceral leishmaniasis, ultimately leading to the complete elimination of this fatal disease from South Asia. The chapters provide valuable information for disease control as well as therapy and the diagnostic improvements necessary for early treatment, subclinical detection and drug-resistant cases. The presented methods allow for points-of-care testing in the endemic area, enabling rapid detection in resource-poor settings with easy handling and low costs.

This book provides essential information for scientists, medical practitioners and policy makers involved in the diagnosis, treatment and elimination of Kala-azar.

This book presents an overview of the most important current developments in the pre-analytical handling of tissue. It addresses in particular potential ways to improve the situation whereby methods employed in the pre-analytical phase - the period from surgical removal of tissue to the start of pathological processing - have remained essentially unchanged for decades with only modest standardization. It is examined how the pre-analytical period can be optimized, resulting not only in an increase in diagnostic quality but also in a reduction in processing time and costs. Among the key topics examined are the so-called cold ischemia time between tissue removal and fixation, the potential superiority of vacuum-based preservation over immediate formalin fixation, two-temperature fixation, molecular analysis methods, and the pre-analytics of specimens from particular tissues. Readers will find this book to be an important update that reveals the full importance of the pre-analytical phase for quality of pathological work-up.

The book reviews the main approaches for generation of differentiated cells from various types of stem cells, including embryonic, placental and cord blood stem cells through marrow, adipose tissue and dental pulp. The book starts with an overview of experimental protocols applied to generate insulin secreting cells, neural cells, heart cells, and other tissue specific cells ex vivo and in experimental animals. This is followed by exhaustive review of clinical trials in these pathologies. It continues with a comparison of the merits of successful transplantation in humans versus animal experimentation, and highlights the most promising clinical applications in the field. Special chapters are devoted to the topic of tissue engineering and modern synthetic and biological scaffolds. It is essential reading for scientists and researchers in tissue engineering and stem cell research as well as clinicians who are involved in developing or testing stem cell therapies.

This volume comprises the invited plenary lectures and contributed papers presented at the WorldMedLab and the EuroMedLab in Berlin, May 2011 with more than 5.000 participants. The contributions in this volume provide a valuable and wide-ranging overview of current research in Laboratory Medicine and cognate disciplines.Special focus is given to Aging Society (neurological diseases), Tumors, Organ specific dysfunctions and Future of Laboratory Medicine.

Since its early days in the 1990s, the Quorum Sensing (QS) field has grown from a few dozen laboratories, investigating the pathways, proteins, and chemicals that facilitate signaling in bacteria, to hundreds of groups that have integrated evolutionary biology, computer science, mathematics, engineering, and metagenomics to create an ever-expanding and dynamic field. In Quorum Sensing: Methods and Protocols, expert researchers provide an in-depth set of diverse protocols that span this broad area of study. Broken into three detailed sections, the volume covers the detection, isolation, and characterization of the QS signals made by both Gram- and Gram+ bacteria, determination of the function of QS signals in vivo, and the development of QS disruption strategies. Written in the highly successful Methods in Molecular Biology (TM) series format, chapters include brief introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and expert tips on troubleshooting and avoiding known experimental pitfalls. Comprehensive and cutting-edge, Quorum Sensing: Methods and Protocols serves as an invaluable collection of easily accessible techniques for scientists seeking to further our knowledge about bacterial communication and its relation to humanity.

This volume contains information on the diagnosis, therapy, and prognosis of spinal tumors. Various aspects of different major types of spinal tumors (astrocytomas, ependymomas, and oligodendroglioma) are discussed. Insights into the understanding of molecular pathways involved in tumor biology are explained. Classification of intradural spinal tumors, including the percentages of each of the three major types, is detailed. Symptoms, radiological features, and clinicopathological parameters of spinal cord tumors are explained. Diagnosis, outcome, and prognosis of primary spinal cord and oligodendroglioma are discussed. Diagnosis of some other spinal tumors (e.g., pilomyxoid and chordomas) is also explained. The useful role of neuroimaging in diagnosing spinal teratoid/rhabdoid and gangliogliomas is included. A wide variety of treatments of a number of spinal cord tumor types are presented in detail. Therapies discussed include chemotherapy, surgery, radiosurgery, stereotactic radiosurgery, Cyberknife stereotactic radiotherapy, standard radiation alone, and rhenium-186 intracavity radiation. Also are duiscussed embolozation and spondylectomy. The usefulness of transplantation of human embryonic stem cells-derived oligodendrocyte progenitors and motoneuron progenitors in the repair of injured spinal cord is emphasized. Symptoms of the advent of spinal tumors are pointed out. Introduction to new technologies and their applications to spinal cord tumor diagnosis, treatment, and therapy assessment are explained.

The unexpected and premature passing away of Professor Ebrahim H. "Abe" Mamdani on January, 22, 2010, was a big shock to the scientific community, to all his friends and colleagues around the world, and to his close relatives. Professor Mamdani was a remarkable figure in the academic world, as he contributed to so many areas of science and technology. Of great relevance are his latest thoughts and ideas on the study of language and its handling by computers. The fuzzy logic community is particularly indebted to Abe Mamdani (1941-2010) who, in 1975, in his famous paper An Experiment in Linguistic Synthesis with a Fuzzy Logic Controller, jointly written with his student Sedrak Assilian, introduced the novel idea of fuzzy control. This was an elegant engineering approach to the modeling and control of complex processes for which mathematical models were unknown or too difficult to build, yet they could effectively and efficiently be controlled by human operators. This ground-breaking idea has found innumerable applications and can be considered as one of the main factors for the proliferation and adoption of fuzzy logic technology. Professor Mamdani's own life and vital experience are illustrative of his "never surrendering" attitude while facing adversaries, which is normal for a person proposing any novel solution, and represent a great example for everybody. His subtle sense of humor, his joy for life, and his will to critically help people, especially young people, were characteristics deeply appreciated by all the people who enjoyed and benefited from his friendship and advice. This book constitutes a posthumous homage to Abe Mamdani. It is a collection of original papers related in some way to his works, ideas and vision, and especially written by researchers directly acquainted with him or with his work. The underlying goal of this book will be fulfilled if, in the very spirit of Mamdani's legacy, the papers will trigger a scientific or philosophical debate on the issues covered, or contribute to a cross-fertilization of ideas in the various fields.

This book provides a comprehensive discussion on the current information and evidence on the latest developments in the field of drugs resistance. Drug resistance is the reduction in effectiveness of a medication such as an antimicrobial or an antineoplastic in treating a disease or condition. This leads to negative outcomes at great risk of public health; therefore, increasing efforts are dedicated to the development of a new generation of medications that will help deal with this phenomenon. Decades of technological innovations in drug design have demonstrated the potential of resistance. Enormous information on various aspects of antibiotics resistance is available. However, literature on drug resistance specifically related to infectious and non-infectious diseases is rarely presented, particularly those focusing on the mechanisms, biochemistry, kinetics, dynamics, and management of drug resistance. Therefore, there is an immense need for a systematic compilation on the available information about this issue. All the chapters are logically selected and arranged to provide state-of-the-art information about all aspects of drugs resistance. After an introductory chapter, four chapters are dedicated to infectious microbial diseases, whereas two other chapters are complimenting this theme and focusing on drugs resistance in ear, nose and throat, and skin diseases. The recent advances in the understanding of drugs resistance in lung, neurological, kidney, heart, and liver diseases are also covered. Biochemistry of drugs resistance in cancer, HIV, ocular, reproductive, and diabetes diseases is also discussed. Finally, a chapter dedicated to the "management of drug resistance" has been included.