Bøger i UNI-MED Science serien

Primary CNS lymphomas (PCNSLs) are defined as non-Hodgkin lymphomas which, at the time of diagnosis, are located exclusively in the brain parenchyma, in the meninges and / or in the spinal cord or in the vitreoretinal area. They occur much more frequently in immunoincompetent patients than in immunocompetent patients. As a rule, it is an aggressive, diffuse large-cell B-cell lymphoma, in which the median survival time without therapy is only a few weeks to months after diagnosis.The therapeutic spectrum of PCNSL is limited by the difficulty of crossing the blood-brain barrier. If this is the case, however, the chemosensitivity is high. Due to the rarity of this tumor disease, most studies are based only on small numbers of patients with limited informative value. Nevertheless, in the last few years, it has been possible to establish promising curative therapeutic approaches that are based on induction and subsequent consolidation therapy and enable high remission rates and several years of progression-free survival.All of these aspects are taken into account in this monograph, which summarizes the current knowledge on the PCNSLs in a compact and informative way.

In patients with phenylketonuria (PKU), blood phenylalanine concentration during childhood is the major determinant of cognitive outcome. Thanks to newborn screening and early dietary therapy, individuals with PKU no longer experience intellectual disability. Nevertheless, some do not achieve their full potential. The establishment of uniform guidelines and improved management for PKU can lead to optimal outcomes in this metabolic disorder.Since in 1999 it has been shown that some patients with PKU respond to the administration of tetrahydrobiopterin (BH4; sapropterin dihydrochloride) by lowering blood phenylalanine concentrations, that these patients can be treated with sapropterin dihydrochloride. Enzyme substitution therapy with phenylalanine ammonia lyase (PAL) is a promising new option, along with diet and sapropterin, to reduce Phe levels and improve the clinical outcome of subjects with PKU. Gene therapy is another new approach which remains to be evaluated in upcoming studies. It has been also shown that patient's genotype determines the phenotype and helps in predicting BH4 responsiveness.In the 4th edition of this textbook past, present, and future efforts related to PKU and BH4 deficiencies are discussed. The reviews and scientific contributions in this book provide professionals, the patients, and their families to understand PKU within a biochemical, neurological and psychological context.

Cystic fibrosis is a severe ion channel disease of autosomal recessive inheritance that is caused by mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. Thanks to continuously improved symptomatic treatment during the last five decades this lethal paediatric disease has been transformed into a chronic disorder with a median life expectancy of nowadays more than 50 years.This 2nd edition provides the reader with the background and on-going preclinical and clinical research for the development of mutation-type specific therapy of cystic fibrosis. Starting with the biology and biomarkers of CFTR in the context of cystic fibrosis, the reader gets insight into the basic and clinical research of CFTR modulators from bench to bedside. A large section of the book focuses on the clinical trials, post-approval observational studies and the real-world experience with the CFTR modulators.

Vergiftungen sind in der Notfall- und Intensivmedizin ein häufiges Krankheitsbild und verursachen zwischen 5-15 % aller Notarzteinsätze. Die vorliegende 2. Auflage dieses Lehrbuches widmet sich Vergiftungen durch Chemikalien, Gase, Metalle, Medikamente, Rauschgifte und natürliche Toxine und geht ausführlich auf Strategien und Methoden der klinisch-toxikologischen Analytik ein.Die Kapitel wurden überarbeitet und mit neuen Erkenntnissen aus der Literatur auf den aktuellen Stand gebracht. Die Auswahl der Themen spiegelt den klinisch-toxikologischen Alltag wider, indem auf wirklich häufig vorkommende Vergiftungen im klinischen Alltag fokussiert wird, ergänzend werden aber auch seltene, oft besonders schwer verlaufende Intoxikationen aufgegriffen.Dieses Buch richtet sich an Ärzte in Notaufnahmen, auf Intensivstationen und im Notarztdienst und an alle, die mit der Behandlung Vergifteter betraut sind.

Ultrasound-based image guidance for endovascular interventions has long been propagated as safe and (cost)-effective in many respects. IVUS guidance has also been shown to be superior to angiographic guidance in aortic disease, both in terms of imaging and radiation reduction.This book discusses the value and potential applications of IVUS in aorto-iliac pathologies. Part I explains the potential risks and side effects of using X-rays for patients and staff. The current status of IVUS imaging and the requirements for successful use of this tool are presented. Part II focuses on when and how to use IVUS guidance in the aortic and pelvic segments. In addition to the presentation of the technical equipment, recommendations are given for the implementation of IVUS in the daily routine and for image generation, procedural sequences and interpretation of the findings based on the display on the IVUS monitor.This book is a useful guide for physicians and other staff members dealing routinely with radiation-based imaging in the operative setting or the angiosuite. It will also raise the reader's awareness for the X-ray-associated risks and available solutions for improving radiation safety in the OR and the procedural and outcome quality.