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 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 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 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 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 S ndromes talas micos written by Ali T. Taher and published by Karger Medical and Scientific Publishers. This book was released on 2024-03-07 with total page 71 pages. Available in PDF, EPUB and Kindle. Book excerpt: 'Fast Facts: Síndromes talasémicos' proporciona una introducción detallada y concisa a los síndromes talasémicos y a los enfoques actuales para su tratamiento y el de las enfermedades asociadas. También ofrece información sobre algunos de los nuevos tratamientos que se cuentran actualmente en fase de estudio en ensayos clínicos o que se han aprobado recientemente, y que pueden tener el potencial de transformar la vida de los pacientes con talasemia.

Download or read book Fast Facts Thalassemia Syndromes written by Ali T. Taher and published by Karger Medical and Scientific Publishers. This book was released on 2023-07-31 with total page 68 pages. Available in PDF, EPUB and Kindle. Book excerpt: 'Fast Facts: Thalassemia Syndromes' provides a concise, comprehensive introduction to the thalassemia syndromes and current approaches to treating them and their associated morbidities. It also offers an insight into some of the novel therapies that are currently in clinical trials or that have recently been approved, which have the potential to transform the lives of patients with thalassemia.

Download or read book Fast Facts Thalassemia Syndromes Arabic written by Ali T. Taher and published by Karger Medical and Scientific Publishers. This book was released on 2024-07-05 with total page 70 pages. Available in PDF, EPUB and Kindle. Book excerpt: حقائق سريعة: يوفر كتاب متلازمات الثلاسيميا مقدمة موجزة وشاملة عن متلازمات الثلاسيميا والطرق الحالية لعلاجها هي والأمراض المرتبطة بها. كما أنه يقدم أيضًا نظرة متعمقة على بعض العلاجات الحديثة المُستَخدَمَة حاليًا في تجارب سريرية أو التي أعتُمِدَت مؤخرًا، والقادرة على تحويل مجرى حياة مرضى الثلاسيميا.

Download or read book Ferri s Practical Guide Fast Facts for Patient Care E Book written by Fred F. Ferri and published by Elsevier Health Sciences. This book was released on 2014-03-28 with total page 457 pages. Available in PDF, EPUB and Kindle. Book excerpt: For nearly 25 years, Ferri's concise, pocket-sized resource has served as the go-to reference for practical, clinical information among students, residents, and other medical professionals. Formerly known as Practical Guide to the Care of the Medical Patient, this volume continues to provide a fast, effective, and efficient way to identify the important clinical, laboratory, and diagnostic imaging information you need to get through your internal medicine clerkship or residency. - Consult this title on your favorite device, conduct rapid searches, and adjust font sizes for optimal readability. - Benefit from the expert guidance of Dr. Fred Ferri, a leading teacher, clinician, and author. - Confidently manage patients with the latest clinical information, drug therapies, and lab tests. - Apply the latest knowledge and techniques with this updated and streamlined title, which still stays true to the Ferri name. - Quickly find important information with content organized into three major sections: Section I, titled "Surviving the Wards," contains information on charting, laboratory evaluation and formulary; Section II provides the differential diagnosis of common signs and symptoms likely to be encountered in the acute care setting; Section III has been completely revised and subdivided into 11 specialty specific diseases and disorders. - Carry just the sections you need, add personalized materials, and keep everything together and safe with an improved ring binder and design. - Access the full text and procedural videos online at Expert Consult.

Download or read book Fast Facts for Patients Beta Thalassemia written by Antonio Piga and published by Karger Medical and Scientific Publishers. This book was released on 2023-04-04 with total page 50 pages. Available in PDF, EPUB and Kindle. Book excerpt: This booklet aims to help you understand beta thalassemia (BT) so you can talk to your medical team about your condition and its treatment. BT is a blood condition you’re born with. It affects your red blood cells. BT is a disease caused by changes (mutations) in genes that are passed on from parent to child. You have BT when you inherit a gene change from both of your parents. There are two types of BT disease – BT major and BT intermedia. A person can also be a healthy carrier of BT without having the disease. This is called BT trait (or BT minor). Treatment depends on the type of BT disease you have. People with BT major will require regular blood transfusions throughout their life. New treatments for BT have recently been approved or are being tested in clinical trials around the world, with promising results. Table of Contents: • What is beta thalassemia? • What causes beta thalassemia? • Types of beta thalassemia • Screening and diagnosis • Beta thalassemia trait • Beta thalassemia intermedia • Beta thalassemia major • Complications • Iron-related complications • Treatment • Treatment for complications • New developments in treatment • New treatments for beta thalassemia • Living with beta thalassemia • Asking for help

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 The Obstetric Hematology Manual written by Sue Pavord and published by Cambridge University Press. This book was released on 2018-02-08 with total page 362 pages. Available in PDF, EPUB and Kindle. Book excerpt: Understand the rapidly growing complexities of obstetric hematology and high-risk pregnancy management, with experts in the field. Now in its second edition, this comprehensive and essential guide focuses on providing the best support for patients and clinical staff, to prevent serious complications in pregnancy and the post-partum period for both mother and baby. Wide-ranging and detailed, the guide offers discussions on basic principles of best care, through to tackling lesser-known hematological conditions, such as cytopenias and hemoglobinopathies. Updated with color illustrations, cutting-edge research, accurate blood film reproductions, and practical case studies, the revised edition places invaluable advice into everyday context. This unique resource is essential reading for trainees and practitioners in obstetrics, anesthesia, and hematology, as well as midwives, nurses, and laboratory staff. Clarifying difficult procedures for disease prevention, the guide ensures safety when the stakes are high. Reflecting current evidence-based guidelines, the updated volume is key to improving pregnancy outcomes worldwide.