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 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 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 Fast Facts Le d ficit en pyruvate kinase pour les patients et les accompagnants written by R. Grace and published by Karger Medical and Scientific Publishers. This book was released on 2019-09-30 with total page 42 pages. Available in PDF, EPUB and Kindle. Book excerpt: Le déficit en pyruvate kinase est une maladie génétique rare qui cause la destruction des globules rouges. Malgré une compréhension grandissante de la maladie, elle reste inconnue de nombreux professionnels de santé et l'information disponible pour les patients est limitée. Ce livret superbement illustré est conçu pour aider les patients à se doter des meilleures informations sur leur maladie afin d'améliorer les conversations qu'ils ont avec les médecins et les infirmiers à son sujet. Il fournit des explications simples mais détaillées sur : • le rôle des globules rouges et ce qui ne va pas dans le déficit en pyruvate kinase • la manière dont la maladie est transmise • la manière dont la maladie affecte les patients • les tests sanguins et la signification des résultats • les traitements de soutien, y compris les transfusions sanguines et l'ablation de la rate • la manière dont les complications comme la surcharge en fer et la jaunisse sont gérées. Avec les 'FastTests' (petits tests) pour savoir comment les patients comprennent leur maladie et des espaces pour noter leurs remarques, cette ressource concise et facile à lire aidera les patients à s'organiser afin qu'ils soient mieux équipés pour poser les bonnes questions et avoir des discussions plus sérieuses concernant leur traitement. Enfin, il les aidera à prendre les meilleures décisions concernant leur prise en charge.

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 Deficit di piruvato chinasi 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: Lei potrebbe avere scarsa familiarità con il deficit di piruvato chinasi (PK). Si tratta di un raro difetto enzimatico ereditario che interessa la via glicolitica utilizzata dai globuli rossi per generare energia e che si manifesta come anemia emolitica. I sintomi variano notevolmente da un individuo all’altro, rendendo difficile la diagnosi, e le cure sono essenzialmente di supporto. Redatto da esperti nel settore, Fast Facts: Deficit di piruvato chinasi fornisce un’introduzione completa alla malattia, tra cui informazioni dettagliate su: • difetto sottostante • modalità di trasmissione ereditaria e relazione tra genotipo e fenotipo • modalità di manifestazione della malattia • elementi diagnostici fondamentali e metodi di differenziazione del deficit di PK da un gruppo eterogeneo di malattie emolitiche • monitoraggio e gestione delle eventuali complicanze. 'Fast Facts: Deficit di piruvato chinasi' susciterà l’interesse di medici curanti, ematologi, oncologi, pediatri, specialisti in medicina interna, infermieri del reparto di ematologia e studenti di medicina: in realtà di tutto coloro che desiderano approfondire la propria conoscenza di questa rara malattia genetica del sangue.

Download or read book Fast Facts Deficit di piruvato chinasi per pazienti e sostenitori written by R. Grace and published by Karger Medical and Scientific Publishers. This book was released on 2019-09-30 with total page 42 pages. Available in PDF, EPUB and Kindle. Book excerpt: Il deficit di piruvato chinasi è una rara malattia genetica che provoca la distruzione dei globuli rossi. Malgrado la crescente comprensione della malattia, numerosi medici non ne hanno ancora sufficiente familiarità e le informazioni disponibili per i pazienti sono limitate. Questo manuale, dotato di illustrazioni straordinariamente curate, è concepito per aiutare i pazienti ad acquisire le migliori informazioni sulla loro condizione, al fine di migliorare i colloqui con i medici e gli infermieri. Fornisce spiegazioni semplici ma dettagliate su quanto segue: • quale ruolo svolgono i globuli rossi e cosa accade nel deficit di piruvato chinasi • in che modo viene trasmessa la malattia • quali sono gli effetti della malattia sui pazienti • quando e come eseguire le analisi del sangue e significato dei relativi risultati • quali sono i trattamenti di supporto, tra cui trasfusioni di sangue e asportazione chirurgica della milza • come vengono trattate le complicanze, ad es. sovraccarico di ferro e ittero. Grazie ai FastTest, i test rapidi che consentono di verificare la comprensione dei pazienti della malattia di cui soffrono, e all’ampio spazio per prendere appunti, questo opuscolo conciso e di facile lettura aiuta i pazienti a organizzarsi, consentendo loro di acquisire tutte le informazioni necessarie per porre le domande giuste e avere colloqui più significativi sul loro trattamento. In ultima analisi, li aiuterà a prendere le decisioni migliori sulla cura da seguire.

Download or read book Fast Facts Pyruvatkinase Mangel f r Patienten und Angeh rige written by R. Grace and published by Karger Medical and Scientific Publishers. This book was released on 2019-09-30 with total page 42 pages. Available in PDF, EPUB and Kindle. Book excerpt: Der Pyruvatkinase-Mangel ist eine seltene genetische Erkrankung, die zum Zerfall von roten Blutkörperchen führt. Obwohl die Forschung ständig neue Erkenntnisse zu der Erkrankung hervorbringt, wissen viele Ärzte weiterhin wenig darüber und den Patienten stehen nur begrenzte Informationen zur Verfügung. Dieses grossartig bebilderte Arbeitsbuch soll Patienten mit den besten verfügbaren Informationen zu ihrer Erkrankung ausstatten, damit sie besser mit ihren Ärzten und dem medizinischen Pflegepersonal kommunizieren können. Es liefert ausführliche und einfach verständliche Erläuterungen zu den folgenden Themen: • Funktion der roten Blutkörperchen und Probleme, die ein Pyruvatkinase-Mangel verursacht • Vererbungsweg der Erkrankung • Auswirkungen der Erkrankung auf die Patienten • Bluttests und was deren Ergebnisse bedeuten • Unterstützende Behandlungen wie Bluttransfusionen und Operationen zur Entfernung der Milz • Behandlung von Komplikationen wie Eisenüberladung und Gelbsucht. Mit Hilfe der FastTests können Patienten ihr Wissen über ihre Erkrankung testen. Zusätzlich bietet das prägnant und verständlich geschrieben Buch reichlich Platz für Notizen. So haben die Patienten immer alle Informationen an einem Ort und sind in der Lage, die richtigen Fragen zu stellen und besser informierte Gespräche über ihre Behandlung zu führen. Dadurch werden sie in die Lage versetzt, die besten Entscheidungen für ihre Versorgung zu treffen.

Download or read book Fast Facts Deficiencia de piruvato quinasa para pacientes y familiares written by R. Grace and published by Karger Medical and Scientific Publishers. This book was released on 2019-09-30 with total page 42 pages. Available in PDF, EPUB and Kindle. Book excerpt: La deficiencia de piruvato quinasa es una enfermedad genética rara que provoca la destrucción de los eritrocitos. Aunque cada vez se sabe más acerca de este trastorno, todavía sigue siendo desconocido para muchos médicos y la información disponible para el paciente es limitada. Esta obra excelentemente ilustrada está pensada para ayudar a los pacientes a disponer de la mejor información posible sobre su enfermedad a fin de lograr un mejor entendimiento durante las conversaciones con los médicos y las enfermeras. Proporciona explicaciones sencillas pero detalladas sobre: • la función de los glóbulos rojos y lo que falla en la deficiencia de piruvato quinasa • cómo se hereda • cómo afecta a los pacientes • los análisis de sangre y lo que significan los resultados • los tratamientos de apoyo, como las transfusiones de sangre y la extirpación quirúrgica del bazo • el manejo de las complicaciones, como la sobrecarga de hierro y la ictericia. Este recurso, conciso y bien organizado, incluye FastTests para que los pacientes comprueben si entienden su enfermedad y un gran número de espacios en blanco para que escriban sus notas. Una herramienta que les permitirá plantear las preguntas correctas y hablar con mayor fundamento sobre su tratamiento. Y por último, les ayudará a tomar las decisiones más acertadas para su atención.

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 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 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 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 Improving Memory Deficits in Alzheimer s Disease written by Ralf J. Braun and published by Frontiers Media SA. This book was released on 2022-12-16 with total page 178 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Cumulated Index Medicus written by and published by . This book was released on 1970 with total page 1206 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Neuroacanthocytosis Syndromes written by Adrian Danek and published by Springer Science & Business Media. This book was released on 2006-07-09 with total page 285 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neuroacanthocytosis Syndromes is the first comprehensive review of a field that has not yet received the attention it deserves. Affecting the brain as well as the circulating red cells, these multi-system disorders in the past had often been mistaken for Huntington's disease. Recent breakthroughs have now identified the molecular basis of several of these. This volume grew out of the first international scientific meeting ever devoted to neuroacanthocytosis and provides in-depth information about the state of the art. Its thirty chapters were written by the leading authorities in the field to cover the clinical as well as the basic science perspective, including not only molecular genetics but also experimental pharmacology and cell membrane biology, among others. The book vehemently poses the question of how the membrane deformation of circulating red blood cells relates to degeneration of nerve cells in the brain, the basal ganglia, in particular. It provides a wealth of data that will help to solve an intriguing puzzle and ease the suffering of those affected by one of the neuroacanthocytosis syndromes.

Download or read book Williams Hematology 9E written by Kenneth Kaushansky and published by McGraw Hill Professional. This book was released on 2015-12-23 with total page 2528 pages. Available in PDF, EPUB and Kindle. Book excerpt: Publisher's Note: Products purchased from Third Party sellers are not guaranteed by the publisher for quality, authenticity, or access to any online entitlements included with the product. The world's most highly regarded reference text on the mechanisms and clinical management of blood diseases A Doody's Core Title for 2019! Edition after edition, Williams Hematology has guided generations of clinicians, biomedical researchers, and trainees in many disciplines through the origins, pathophysiological mechanisms, and management of benign and malignant disorders of blood cells and coagulation proteins. It is acknowledged worldwide as the leading hematology resource, with editors who are internationally regarded for their research and clinical achievements and authors who are luminaries in their fields. The Ninth Edition of Williams Hematology is extensively revised to reflect the latest advancements in basic science, translational pathophysiology, and clinical practice. In addition to completely new chapters, it features a full-color presentation that includes 700 photographs, 300 of which are new to this edition, and 475 illustrations. Recognizing that blood and marrow cell morphology is at the heart of diagnostic hematology, informative color images of the relevant disease topics are conveniently integrated into each chapter, allowing easy access to illustrations of cell morphology important to diagnosis. Comprehensive in its depth and breath, this go-to textbook begins with the evaluation of the patient and progresses to the molecular and cellular underpinnings of normal and pathological hematology. Subsequent sections present disorders of the erythrocyte, granulocytes and monocytes, lymphocytes and plasma cells, malignant myeloid and lymphoid diseases, hemostasis and thrombosis, and transfusion medicine.