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Quatre cents enfants naissent chaque année en France avec la drépanocytose, la plus fréquente des maladies génétiques dans notre pays. Vingt mille patients doivent vivre au quotidien avec cette maladie, invisible en dehors de crises douloureuses extrêmement violentes liées au blocage des globules rouges anormaux dans les vaisseaux sanguins. Elle peut toucher tous les organes et laisser de graves séquelles fonctionnelles. Encore ignorée du grand public, elle est également méconnue de beaucoup de soignants. Ce livre est basé sur des entretiens menés avec vingt-neuf patients vivant en Île-de-France. Dans ces « histoires de vie » souvent poignantes, chacun dit son parcours professionnel, sa stratégie pour concilier travail et problèmes de santé. Il s'interroge : doit-il se considérer comme normal, handicapé, ou comme les deux à la fois ? Derrière une normalité apparente, il se sait atteint d'une maladie imprévisible, qui peut à tout moment se révéler grave, rendant son présent incertain. Comment envisager une famille, la possible transmission de la maladie aux enfants ? Comment apprendre à vivre malgré l'emprise de la drépanocytose ?
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This book presents a comprehensive overview of sickle cell anemia, with chapters addressing diagnosis and clinical, psychosocial, and pharmacological management of patients with this disease. It is a vital resource for biomedical science and medical students, interns, pediatricians, general physicians, and other healthcare professionals involved in offering care and support to patients with sickle cell disease.
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Proudly open access, the Journal of Sickle Cell Disease (JSCD) is committed to upholding rigorous scientific standards while ensuring researchers, clinicians, patients, and the public have unobstructed access to the latest discoveries. We eagerly invite contributions from all corners of the globe, united in our ambition to enhance the lives of all those affected by sickle cell disease.
Sickle cell anemia --- Diseases --- Treatment.
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"Sickle cell disease (SCD) is a genetic condition that affects approximately 100,000 people in the United States and millions more globally. Individuals with SCD endure the psychological and physiological toll of repetitive pain as well as side effects from the pain treatments they undergo. Some adults with SCD report reluctance to use health care services, unless as a last resort, due to the racism and discrimination they face in the health care system. Additionally, many aspects of SCD are inadequately studied, understood, and addressed. Addressing Sickle Cell Disease examines the epidemiology, health outcomes, genetic implications, and societal factors associated with SCD and sickle cell trait (SCT). This report explores the current guidelines and best practices for the care of patients with SCD and recommends priorities for programs, policies, and research. It also discusses limitations and opportunities for developing national SCD patient registries and surveillance systems, barriers in the healthcare sector associated with SCD and SCT, and the role of patient advocacy and community engagement groups." --
Sickle cell anemia. --- Medical Technology --- Medicine --- Diseases --- Medical
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This book addresses a wide range of clinically relevant topics and issues in sickle cell disease. This is written by experts in their own field offering a robust, engaging discussion about the presentations and mechanisms of actions in the multiple complications associated with sickle cell disease. This first of the series addresses pain, which is considered the hallmark of sickle cell presentation. It looks at the basic mechanism of pain in sickle cell disease. A more detailed review of precision medicine gives a clear well laid out presentation that is incisive and yet gives in-depth detail relevant to both the clinician and the researcher in the basic laboratory. The same pattern is shown in the discussion on respiratory, cardiac and neurological complications. The 14 chapters also include an overview of sickle cell disease especially in the paediatric age. The content is organized into well-designed broad sections on overview regarding diagnosis including point of care and the role of digital apps in patient management. A key aspect of the book is the opportunity it affords expert physicians to express well-reasoned opinions regarding complex issues in sickle cell disease. The readership would find that it provides a well-described, concise and immediate applicable answers to complex questions. This is highly recommended for scientists and clinicians alike.
Sickle cell anemia. --- Drepanocytic anemia --- Meniscocytosis --- Sickle cell disease --- Blood hyperviscosity syndrome --- Hemoglobinopathy --- Hemolytic anemia --- Medicine --- Hematology --- Hematopathology --- Health Sciences
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Zinc deficiency diseases --- Zinc in the body --- Zinc metabolism --- Sickle cell anemia --- Zinc --- Congresses --- Congresses. --- Congresses --- Congresses --- Congresses.
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This book provides a comprehensive, state-of-the art review of hematopoietic stem cell transplantation (HSCT) for sickle cell disease (SCD). The book reviews new data about risk prediction for severe SCD, outlines the unique challenges of HSCT for patients with SCD, profiles the supportive care guidelines for patients who are undergoing HSCT, highlights our current understanding of the best transfusion support for SCD patients prior to, during and after HSCT, and provides new perspectives about the ethics of HSCT for pediatric patients with SCD. Published in the last few years, several landmark phase III trials that utilize matched unrelated and haploidentical donors for HSCT in SCD patients are also placed in context with respect to current management. Written by experts in the field, Sickle Cell Disease and Hematopoietic Stem Cell Transplantation is a valuable resource for physicians and researchers dealing with and interested in this challenging, yet exciting, curative therapy for sickle cell disease, that will help guide patient management and stimulate investigative efforts. .
Medicine. --- Hematology. --- Medicine & Public Health. --- Haematology --- Clinical sciences --- Medical profession --- Sickle cell anemia --- Hematopoietic stem cells --- Treatment. --- Transplantation. --- Drepanocytic anemia --- Meniscocytosis --- Sickle cell disease --- Blood hyperviscosity syndrome --- Hemoglobinopathy --- Hemolytic anemia --- Internal medicine --- Blood --- Diseases
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Sickle cell anemia --- Antineoplastic agents --- Urea --- Diabetes Mellitus, Type 1 --- Child. --- Evidence-Based Medicine --- Outcome Assessment, Health Care. --- Patient Education as Topic --- Treatment --- Therapeutic use --- Derivatives --- Therapeutic use --- prevention & control. --- methods. --- methods.
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Quatrième de couverture : Les ouvrages de la collection Pedia sont écrits par les spécialistes du domaine pour les pédiatres hospitaliers et libéraux les internes des services de pédiatrie ainsi que pour les médecins généralistes et parfois des spécialistes de médecine pour adulte.Précis et didactiques ils fournissent à ces praticiens : les éléments indispensables pour détecter et reconnaître les pathologies ; des réponses claires à des situations cliniques précises ; des critères d’orientation et des propositions de conduites à tenir. Maladie héréditaire de l’hémoglobine la drépanocytose touche plus de cinq millions de personnes à travers le monde et est actuellement considérée comme la maladie monogénique la plus répandue. De sévérité et d’évolution très variables les manifestations de la drépanocytose sont multiples : anémie crises vaso-occlusives douloureuses accidents vasculaires cérébraux susceptibilité accrue aux infections méningites et ostéomyélites notamment atteintes chroniques d’organe. En France grâce à une prise en charge précoce la drépanocytose n’entraîne désormais qu’une exceptionnelle mortalité dans l’enfance contrastant cependant avec une importante morbidité. Pour répondre aux besoins des pédiatres et médecins généralistes qui dans leur pratique quotidienne peuvent être amenés à prendre en charge ces patients l’ouvrage fait le point sur la drépanocytose « vie entière » les situations d’urgence les atteintes chroniques d’organe et la thérapeutique."
Drépanocytose. --- Enfants --- Adolescents --- Drépanocytose --- Maladies. --- Enfant. --- Adolescent. --- Sickle cell anemia in children --- Anemia, Sickle Cell --- Child --- Adolescent --- Sickle Cell Trait --- Child Care --- therapy --- Hematologic Diseases --- Anemia, Hemolytic, Congenital --- Genetic Diseases, Inborn --- Pediatrics --- Sickle Cell Trait - therapy --- Genetic Diseases, Inborn. --- Pediatrics. --- Child. --- Anemia, Sickle Cell. --- Anemia, Hemolytic, Congenital.
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This practical clinical handbook reveals that sickle cell disease (SCD) is an increasingly common condition to manage in Europe and North America. SCD demands clinical expertise and experience as well as sensitivity to its social and cultural context. This book is designed to broaden readers’ knowledge in this challenging condition by describing the acute and long-term complications unique to SCD and that affect nearly every system of the body. Critically, it also details the significant recent advances in understanding the pathophysiology of SCD that are leading to novel treatment modalities. Sickle Cell Disease in Clinical Practice promotes higher quality care by outlining the clinical problems as they arise, and covering essential background information, including up-to-date research, and useful points to guide management. As such, the intended target audience is broad and includes general physicians, general practitioners, hematologists, pediatricians, emergency medicine physicians, surgeons, medical students, nurse specialists and commissioners.
Medicine & Public Health. --- Hematology. --- Pathology. --- Blood Transfusion Medicine. --- Medicine. --- Blood transfusion. --- Médecine --- Hématologie --- Pathologie --- Medicine --- Health & Biological Sciences --- Pathology --- Sickle cell anemia. --- Clinical medicine. --- Medicine, Clinical --- Drepanocytic anemia --- Meniscocytosis --- Sickle cell disease --- Blood hyperviscosity syndrome --- Hemoglobinopathy --- Hemolytic anemia --- Blood transfusion --- Blood transfusion therapy --- Hemotherapy --- Transfusion medicine --- Transfusion of blood --- Transfusion therapy --- Transfusion therapy, Blood --- Surgery --- Blood banks --- Blood groups --- Hospitals --- Transfusion-free surgery --- Disease (Pathology) --- Medical sciences --- Diseases --- Medicine, Preventive --- Haematology --- Internal medicine --- Blood --- Transfusion committees
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