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Human Genetics
Core genetics text for medical students in their 1st or 2nd year. Unique in its organ system approach, this textbook teaches concepts in medical genetics by exploring disease entities within the context of the organ system in which they most frequently present. TOP 30 genetic conditions covered in a tear-out apple flap or C2. Section on information from a patient and familys point of view helps teach students about key obstacles for patients suffering from severe genetic conditions. Adapted from a successful German text published by Springer.
mRNA Processing and Metabolism
Cells possess a wealth of posttranscriptional control mechanisms that impact on every conceivable aspect of the life of an mRNA. These processes are intimately intertwined in an almost baroque manner, where promoter context influences the recruitment of splicing factors, where the majority of pre-mRNAs undergo alternative splicing, and where proteins deposited during nuclear processing impact distal cytoplasmic processing, translation, and decay. If there is a unifying theme to mRNA Processing and Metabolism: Methods and Protocols, it is that mRNA processing and metabolism are integrated processes. Many of the techniques used to study mRNA have been described in a previous volume of this ser...
RNA Turnover in Eukaryotes: Nucleases, Pathways and Analysis of mRNA Decay
Specific complexes of protein and RNA carry out many essential biological functions, including RNA processing, RNA turnover, RNA folding, as well as the translation of genetic information from mRNA into protein sequences. Messenger RNA (mRNA) decay is now emerging as an important control point and a major contributor to gene expression. Continuing identification of the protein factors and cofactors, and mRNA instability elements responsible for mRNA decay allow researchers to build a comprehensive picture of the highly orchestrated processes involved in mRNA decay and its regulation. Covers the nonsense-mediated mRNA decay (NMD) or mRNA surveillance pathway Expert researchers introduce the most advanced technologies and techniques to identify mRNA processing, transport, localization and turnover, which are central to the process of gene expression Offers step-by-step lab instructions, including necessary equipment and reagents
Health Services Research
Research on prevention. Research on care delivery systems. Research on health care organization. Health technology assessment
Advances in Genetics
The field of genetics is rapidly evolving and new medical breakthroughs are occurring as a result of advances in knowledge gained from genetics research. This series continually publishes important reviews of the broadest interest to geneticists and their colleagues in affiliated disciplines.
Pediatric Hematology
Pediatric Hematology is a comprehensive and succinct referenced text on the diagnosis and treatment of blood diseases in childhood. It provides a ready source of reference for all the conditions likely to be encountered in day-to-day clinical practice. For each condition, the authors give helpful advice on differential diagnoses and clinical management. This third edition has been extensively updated throughout, in light of recent developments in this rapidly advancing area of medicine. A well established textbook on the diagnosis and treatment of blood disorders in childhood A balanced and cutting edge referenced text on all aspects of diagnosis and treatment Easy to use, practically organized, with essential aspects of biology included within each chapter International editorial and contributor team—representing a wide geographical and chronological range Whether you are an established sub-specialist in pediatric hematology/oncology, a pediatrician, a trainee or nursing specialist, this book will answer all your questions about benign and malignant disorders of the blood in children and young adults.
Benefits of a Disease Management Program for Sickle Cell Disease in Germany 2011-2019: the Increased Use of Hydroxyurea Correlates with a Reduced Frequency of Acute Chest Syndrome
Sickle Cell Disease (SCD) is the most common monogenic disorder globally but qualifies as a rare disease in Germany. In 2012, the German Society for Paediatric Oncology and Haematology (GPOH) mandated a consortium of five university hospitals to develop a disease management program for patients with SCD. Besides other activities, this consortium issued treatment guidelines for SCD that strongly favour the use of hydroxyurea and propagated these guidelines in physician and patient education events. In order to quantify the effect of these recommendations, we made use of claims data that were collected by the research institute (WIdO) of the major German insurance company, the Allgemeine Ortsk...
