Download or read book Fast Facts Pyruvate Kinase Deficiency for Patients and Supporters written by R. Grace and published by Karger Medical and Scientific Publishers. This book was released on 2019-02-06 with total page 42 pages. Available in PDF, EPUB and Kindle. Book excerpt: Pyruvate kinase deficiency is a rare genetic disease that causes red blood cells to break apart. Despite an ever-growing understanding of the disease, it remains unfamiliar to many healthcare professionals, and the information available to patients is limited. This superbly illustrated workbook is designed to help patients equip themselves with the best information about their condition to improve the conversations they have about it with their doctors and nurses. Contents: • What is pyruvate kinase deficiency? • What causes PK deficiency? • How is PK deficiency diagnosed? • How will PK deficiency affect me or my child? • Treating PK deficiency • What sort of monitoring might I need? • Special situations • When should I see my doctor? • What can I do to help myself?

Download or read book Fast Facts Pyruvate Kinase Deficiency written by Bertil Glader and published by Karger Medical and Scientific Publishers. This book was released on 2018-08-27 with total page 66 pages. Available in PDF, EPUB and Kindle. Book excerpt: You may be unfamiliar with pyruvate kinase (PK) deficiency. It is a rare inherited enzyme disorder that affects the glycolytic pathway used by red blood cells to generate energy, manifesting as hemolytic anemia. The symptoms vary greatly between individuals, making diagnosis difficult, and management primarily comprises supportive treatments. Written by experts in the field, 'Fast Facts: Pyruvate Kinase Deficiency' provides a comprehensive introduction to the condition, including details of: • the underlying defect • its mode of inheritance, and the relationship between genotype and phenotype • how the condition manifests • the fundamentals of diagnosis and how to differentiate it from a heterogeneous group of hemolytic disorders • monitoring and managing the complications that may arise. 'Fast Facts: Pyruvate Kinase Deficiency' will be of interest to primary care providers, hematologists, oncologists, pediatricians, internal medicine specialists, hematology nurses and medical students; indeed, anyone who wishes to learn more about this rare genetic blood disorder. Contents: • Overview • Epidemiology and etiology • Differential diagnosis • Diagnosis of pyruvate kinase deficiency • Complications and monitoring • Supportive treatment

Download or read book Fast Facts Pyruvate Kinase Deficiency for Patients and Supporters written by Rachael Grace and published by Karger Medical and Scientific Publishers. This book was released on 2019-02-06 with total page 42 pages. Available in PDF, EPUB and Kindle. Book excerpt: Pyruvate kinase deficiency is a rare genetic disease that causes red blood cells to break apart. Despite an ever-growing understanding of the disease, it remains unfamiliar to many healthcare professionals, and the information available to patients is limited. This superbly illustrated workbook is designed to help patients equip themselves with the best information about their condition to improve the conversations they have about it with their doctors and nurses.

Download or read book Fast Facts Deficiencia de piruvato quinasa written by B. Glader and published by Karger Medical and Scientific Publishers. This book was released on 2019-09-30 with total page 66 pages. Available in PDF, EPUB and Kindle. Book excerpt: Es posible que no esté familiarizado con la deficiencia de piruvato quinasa (PK). Se trata de un raro trastorno enzimático heredado que afecta a la ruta glicolítica utilizada por los glóbulos rojos para producir energía, y que se manifiesta como una anemia hemolítica. Los síntomas verían mucho entre las personas, lo que dificulta el diagnóstico. La atención primaria se compone fundamentalmente de tratamientos de apoyo. Escrito por expertos en el ámbito, 'Fast Facts: deficiencia de piruvato quinasa' proporciona una completa introducción sobre la enfermedad y explica: • el defecto subyacente • su transmisión hereditaria y la relación entre el genotipo y el fenotipo • la manifestación de la enfermedad • los fundamentos del diagnóstico y cómo diferenciar la enfermedad de un grupo heterogéneo de trastornos hemolíticos • el control y el manejo de las complicaciones que pueden surgir. 'Fast Facts: deficiencia de piruvato quinasa' es una obra de interés para médicos de familia, hematólogos, oncólogos, pediatras, internistas, enfermeras de hematología y estudiantes de medicina; además de para todos los que quieran saber más acerca de este raro trastorno genético de la sangre.

Download or read book Red Cell Metabolism written by Ernest Beutler and published by . This book was released on 1975 with total page 184 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Fast Facts D ficit en pyruvate kinase written by B. Glader and published by Karger Medical and Scientific Publishers. This book was released on 2019-09-30 with total page 66 pages. Available in PDF, EPUB and Kindle. Book excerpt: Vous ne connaissez peut-être pas le déficit en pyruvate kinase (PK). C'est une maladie enzymatique héréditaire rare qui affecte la glycolyse utilisée par les globules rouges pour fabriquer de l'énergie. Elle se manifeste par une anémie hémolytique. Les symptômes varient énormément d'un individu à l'autre, ce qui rend le diagnostic difficile. Et la gestion de cette maladie consiste essentiellement en des traitements de soutien. Rédigé par des experts dans le domaine, 'Fast Facts : Déficit en pyruvate kinase' fournit une introduction complète de la maladie et donne des détails sur : • l'anomalie sous-jacente • son mode de transmission et la relation entre le génotype et le phénotype • la manière dont la maladie se manifeste • les fondamentaux du diagnostic et la manière de différencier la maladie d'un groupe hétérogène d'anomalies hémolytiques • la surveillance et la gestion des complications qui peuvent se produire. 'Fast Facts : Déficit en pyruvate kinase' sera d'un intérêt essentiel pour les professionnels de santé, les hématologues, les oncologues, les pédiatres, les spécialistes en médecine interne, les infirmiers en hématologie et les étudiants en médecine... en fait à tous ceux qui souhaitent en savoir plus sur cette anomalie génétique rare.

Download or read book Innovative Medicine written by Kazuwa Nakao and published by Springer. This book was released on 2015-10-13 with total page 330 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is devoted to innovative medicine, comprising the proceedings of the Uehara Memorial Foundation Symposium 2014. It remains extremely rare for the findings of basic research to be developed into clinical applications, and it takes a long time for the process to be achieved. The task of advancing the development of basic research into clinical reality lies with translational science, yet the field seems to struggle to find a way to move forward. To create innovative medical technology, many steps need to be taken: development and analysis of optimal animal models of human diseases, elucidation of genomic and epidemiological data, and establishment of “proof of concept”. There is also considerable demand for progress in drug research, new surgical procedures, and new clinical devices and equipment. While the original research target may be rare diseases, it is also important to apply those findings more broadly to common diseases. The book covers a wide range of topics and is organized into three complementary parts. The first part is basic research for innovative medicine, the second is translational research for innovative medicine, and the third is new technology for innovative medicine. This book helps to understand innovative medicine and to make progress in its realization.

Download or read book Fast Facts Pyruvatkinase Mangel written by B. Glader and published by Karger Medical and Scientific Publishers. This book was released on 2019-09-30 with total page 66 pages. Available in PDF, EPUB and Kindle. Book excerpt: Vielleicht ist Ihnen das Krankheitsbild des Pyruvatkinase-Mangels noch unbekannt. Es handelt sich um einen seltenen erblichen Enzymdefekt, der die Energiegewinnung in den Erythrozyten über die Glykolyse betrifft und zu einer hämolytischen Anämie führt. Die Symptome sind von Patient zu Patient sehr unterschiedlich, was die Diagnosestellung erschwert, und die Behandlung besteht im Wesentlichen in supportiven Massnahmen. 'Fast Facts: Pyruvatkinase-Mangel' wurde von Experten verfasst und liefert eine umfassende Einführung in das Krankheitsbild. Behandelte Themen umfassen: • den zugrunde liegenden Enzymdefekt • den Vererbungsweg und die Beziehung zwischen Genotyp und Phänotyp • die Manifestationen der Erkrankung • die Grundlagen der Diagnosestellung und die Differentialdiagnose innerhalb einer heterogenen Gruppe von hämolytischen Erkrankungen • Monitoring und Behandlung möglicher Komplikationen. 'Fast Facts: Pyruvatkinase-Mangel' wurde für Allgemeinmediziner, Hämatologen, Onkologen, Kinderärzte, Internisten, Hämatologie-Fachpflegepersonal und Medizinstudenten geschrieben: kurzum für alle, die mehr über diese seltene genetische Blutkrankheit erfahren möchten.

Download or read book Toxicological Profile for Lead written by and published by . This book was released on 2007 with total page 584 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book The Heterogeneity of Cancer Metabolism written by Anne Le and published by Springer. This book was released on 2018-06-26 with total page 186 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic alterations in cancer, in addition to being the fundamental drivers of tumorigenesis, can give rise to a variety of metabolic adaptations that allow cancer cells to survive and proliferate in diverse tumor microenvironments. This metabolic flexibility is different from normal cellular metabolic processes and leads to heterogeneity in cancer metabolism within the same cancer type or even within the same tumor. In this book, we delve into the complexity and diversity of cancer metabolism, and highlight how understanding the heterogeneity of cancer metabolism is fundamental to the development of effective metabolism-based therapeutic strategies. Deciphering how cancer cells utilize various nutrient resources will enable clinicians and researchers to pair specific chemotherapeutic agents with patients who are most likely to respond with positive outcomes, allowing for more cost-effective and personalized cancer therapeutic strategies.

Download or read book Inborn Metabolic Diseases written by K. Tada and published by Springer Science & Business Media. This book was released on 2013-03-14 with total page 421 pages. Available in PDF, EPUB and Kindle. Book excerpt: Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms used for establishing the diagnosis and differential diagnosis. The highly detailed figures illustrate the metabolic derangement in a uniform way, together with essential aspects of the genetics involved, thus affording clarification and better understanding of the treatment. Topics covered range from general aspects such as the clinical approach, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family, to specific discussions of new modes of treatment, including liver, bone marrow transplantation and somatic gene therapy.

Download or read book Toxicological Profile for Chlordane written by and published by . This book was released on 1994 with total page 286 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Immobilized PH Gradients Theory and Methodology written by P. G. Righetti and published by Elsevier. This book was released on 1990 with total page 415 pages. Available in PDF, EPUB and Kindle. Book excerpt: Immobilized pH gradients (IPG) represent the most advanced development of isoelectric focusing (IEF). Originally developed to overcome all the problems of IEF in soluble amphoteric buffers (CA) (such as pH gradient instability, complexation with CA chemicals, unreproducibility of pH gradients, protein precipitation at the pI), it turned out to be an entirely new technique, quite different in principle and operation from conventional IEF. The book is thus meant to bring the reader up to date with this fast developing field. The book is divided into six chapters containing information on: detailed treatment of all the chemistry of the Immobiline chemicals; theory of pH gradient generation (computer simulations, tables with all the possible pH recipes); all analytical aspects of IPGs, including staining techniques, blotting etc.; two-dimensional maps, with a detailed treatise of advantages and limitations; preparative aspects of IPGs, including comparison with other preparative electrophoretic techniques; some examples of applications, including genetic and forensic analysis, blood polymorphism etc.The book is extensive and up-to-date, while also extensively covering the theory. Clearly written, with easily accessible information, the volume is a worthy asset to the Lab. Techniques series.

Download or read book NORD Guide to Rare Disorders written by National Organization for Rare Disorders and published by Lippincott Williams & Wilkins. This book was released on 2003 with total page 982 pages. Available in PDF, EPUB and Kindle. Book excerpt: NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.

Download or read book Infections in Pregnancy written by Adel Elkady and published by Cambridge University Press. This book was released on 2019-10-24 with total page 215 pages. Available in PDF, EPUB and Kindle. Book excerpt: Provides effective diagnosis and management of infectious diseases in pregnant women in a single comprehensive available resource for busy clinicians.

Download or read book The Metabolic Molecular Bases of Inherited Disease written by Charles R. Scriver and published by New York ; Montreal : McGraw-Hill. This book was released on 2001 with total page 6338 pages. Available in PDF, EPUB and Kindle. Book excerpt: Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.

Download or read book Fast Facts for the Neonatal Nurse written by Michele R. Davidson and published by Springer Publishing Company. This book was released on 2014-04-15 with total page 221 pages. Available in PDF, EPUB and Kindle. Book excerpt: Print+CourseSmart