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Severe Plasma Prekallikrein Deficiency: Clinical Characteristics, Novel KLKB1 Mutations, and Estimated Prevalence
Abstract: Background Severe plasma prekallikrein (PK) deficiency is an autosomal-recessive defect characterized by isolated activated partial thromboplastin time prolongation. To date, no comprehensive methodologically firm analysis has investigated the diagnostic, clinical, and genetic characteristics of PK deficiency, and its prevalence remains unknown. Patients/Methods We described new families with PK deficiency, retrieved clinical and laboratory information of cases systematically searched in the (gray) literature, and collected blood of these cases for complementary analyses. The Genome Aggregation Database (gnomAD) and the population-based Gutenberg Health Study served to study the pr...
Multiple Myeloma
A comprehensive collection of classic and innovative methodologies used in many laboratories for the investigation of multiple myeloma. These readily reproducible techniques range from the standard Plasma Cell Labeling Index methodology to a final chapter on making sense of microarrays, and include the full spectrum of cytogenetic and molecular diagnostic methods. The protocols follow the successful Methods in Molecular MedicineTM series format, each offering step-by-step laboratory instructions, an introduction outlining the principle behind the technique, lists of the necessary equipment and reagents, and tips on troubleshooting and avoiding known pitfalls. These proven techniques are ideal for studying the pathogenesis of multiple myeloma and identifying new therapeutic targets.
Practical Flow Cytometry in Haematology Diagnosis
The accurate diagnosis of haematologic malignancies is a complex and challenging task. It routinely involves morphologic, molecular, cytogenetic and flow cytometric expertise. To determine what treatment protocol will be followed, it is vital to integrate, interpret and report these results accurately. Flow cytometry is key in this diagnostic pathway. This book guides the reader as to how flow cytometry results should be interpreted and applied to optimize patient care. At the core of this text is an appreciation of clinical, morphological and immunophenotypic correlation and the importance of constant liaison and discussion between the medical and scientific teams. The authors present a log...
Endoscopic Ear Surgery
Endoscopic Ear Surgery: Principles, Indications, and Techniques Increasingly used as an adjunctive tool in the diagnosis and management of ear disease, middle ear endoscopy has the potential to decrease patient morbidity, prevent disease recurrence, and reduce costs. Its capacity to uncover "hidden" anatomy within the small dimensions of the ear has made it essential for functional surgery, allowing surgeons to preserve key anatomic structures such as the cochlea and facial nerve. Now for the first time, the physicians who pioneered this groundbreaking minimally invasive technique review its indications, advantages, disadvantages, and surgical approaches: Written by the foremost leaders in t...
Technetium in the Environment
Since the discovery of technetium (in 1937, by Perrier and Segre), technetium-99 and technetium-99m have become most familiar in the specialised literature, the behaviour of the former being of concern regarding its health impact, the latter having been used intensively in medical tests for many years. The knowledge of the characteristics and behaviour of this element in nature is currently increasing exponentially. It has become clear, however, that there is still a serious shortage of information needed to assess properly its burden and impact on man and his environment. Technetium may indeed be released from nuclear installations or as a waste product from medical applications. It is gene...
Biomarkers in Cardiovascular Diseases
The establishment of precise and reliable biomarker tests for the early stages of cardiovascular disease is of great importance and can be the cornerstone in the prevention of future cardiovascular disease (CVD). Furthermore, some biomarkers may provide important information concerning the pathogenesis of CVD or appear to be useful in risk stratification, in CVD diagnosis, or in monitoring therapy; many others may be risk factors themselves, representing therefore potential targets of therapy. The ideal biomarker should have the following characteristics: highly sensitive, specific, reliable, accessible, standardized, dependable, cost effective, and easily interpretable by clinicians. The present book focuses on the presentation and evaluation of the most promising classical and novel biochemical markers used in CVD (coronary artery disease, hypertension, heart failure, hyperlipidemia, peripheral arterial disease). The underlying pathophysiological characteristics of each biomarker, as well as potential clinical implications in daily practice are reviewed in this book.
Research Anthology on Recent Advancements in Ethnopharmacology and Nutraceuticals
For hundreds of years, indigenous populations have developed drugs based on medicinal plants. Many practitioners, especially advocates of traditional medicine, continue to support the use of plants and functional foods as methods by which many ailments can be treated. With relevance around the world as a complementary and alternative medicine, advancements for the use of both ethnopharmacology and nutraceuticals in disease must continually be explored, especially as society works to combat chronic illnesses, increasingly resilient infectious diseases, and pain management controversies. The Research Anthology on Recent Advancements in Ethnopharmacology and Nutraceuticals discusses the advance...
Cinnamon
Cinnamon is the common name for the spice obtained from the dried inner bark of several species of the genus Cinnamomum in the Lauraceae family. In world trade, Cinnamomum cassia (L.) J. Presl Cinnamomum burmannii dominate, but it is of a different quality to ‘true’ or ‘Ceylon’ cinnamon produced from Cinnamomum zeylanicum Blume (C. verum J. Presl), with the latter much easier to process, giving a more delicate, sweeter flavor with nuances of clove, but more importantly with only traces (often below detection thresholds) of coumarin, compared with 5–7 g/kg in other species. Cinnamon has been a popular and expensive spice in many civilizations, including ancient Egypt, Rome and in 14...
Handbook of 200 Medicinal Plants
This book is designed to provide pharmacologists and researchers of natural products a comprehensive review of 200 medicinal plants, their vernacular names in various languages and their medicinal uses around the world, and in some cases, a historical perspective. Chemical constituents of each plant with the putative active constituent, and available up to date pharmacological studies (until 2017 on PubMed) with each medical activity explored and its relationship with traditional uses, are described for each plant. Any variations in chemical constituents and their effects on pharmacological studies outcome have been highlighted. All clinical trials conducted, with sufficient details, have been included. Nationalities and racial identities of participants of clinical trials are identified to impress upon the social, cultural and dietary influences on the clinical outcomes. Toxicity studies and potential interactions with prescribed drugs, and full spectrum of references are included.
Ethnopharmacological Investigation of Indian Spices
Though their usage greatly diminished at the dawn of the scientific area, Indian spices were traditional parts of healthcare for thousands of years. However, over the last decade, largely due to the growth in popularity of complementary and alternative medicine, spices have regained attention due to their physiological and functional benefits. By applying modern research methods to traditional remedies, it is possible to discover what made these spices such effective ailment treatments. Ethnopharmacological Investigation of Indian Spices is a collection of innovative research that analyzes the chemical properties and medical benefits of Indian spices in order to design new therapeutic drugs ...
