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Recurring Mutations in RPL15 are Linked to Hydrops Fetalis and Treatment Independence in Diamond-Blackfan Anemia
Abstract: Diamond-Blackfan anemia (DBA) is a rare inherited bone marrow failure disorder linked predominantly to ribosomal protein gene mutations. Here the European DBA consortium reports novel mutations identified in the RPL15 gene in 6 unrelated individuals diagnosed with DBA. Although point mutations have not been previously reported for RPL15, we identified 4 individuals with truncating mutations p.Tyr81* (in 3 of 4) and p.Gln29*, and 2 with missense variants p.Leu10Pro and p.Lys153Thr. Notably, 75% (3 of 4) of truncating mutation carriers manifested with severe hydrops fetalis and required intrauterine transfusions. Even more remarkable is the observation that the 3 carriers of p.Tyr81*...
Panel Sequencing Identified a Novel Splice Site Mutation in Hermansky-Pudlak Syndrome Type 1 Patients
Abstract: Introduction: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder. Patients with HPS characteristically present with oculocutaneous albinism, nystagmus and increased bleeding tendency. The symptoms are caused by malfunction of lysosome related organelles (i.e. melanosomes, platelets). Patients with HPS typically show impaired platelet delta granule secretion. We report three patients (two brothers and another unrelated patient) who presented with these typical symptoms. Methods and Results: Platelet aggregometry and flow cytometry analyses revealed pathological platelet function and decreased platelet delta granule secretion. Using NGS panel analysis comprising a...
You and Your Action Research Project
This book gives practical guidance on doing an action research project. Written for practitioners across professions who are studying on award-bearing courses, this book is packed full of useful advice and takes the reader through the various stages of a project, including: Starting your action research project Monitoring and documenting the action Techniques for dealing with the data Making claims to knowledge and validating them Making your research public: creating your living theory. The book's practical approach will appeal to practitioners and will encourage them to try out new strategies for improving their work. It will also be essential reading for those resource managers in schools, colleges and higher education institutions who are responsible for providing courses and support. This second edition of a best-selling book, has been thoroughly updated and improved by a number of features, being more accessible, dealing with current debates in literature and demonstrating the power of action research for individual practices.
Pediatric Kidney Disease
The new edition of this valuable clinical resource offers a state of the art, comprehensive review on every clinical condition encountered in pediatric nephrology. International experts present the latest knowledge on epidemiology, diagnosis, management, and prognosis in one concise, clinically focused text, in which care has been taken to couple just the right amount of "need-to-know" basic science with practical clinical guidance that will enable the reader to make efficient, informed decisions. The topics covered include: disorders of renal development, glomerular disorders, the kidney and systemic disease, renal tubular disorders, tubulointerstitial disease, urinary tract disorders, acute kidney injury, hypertension, chronic and end-stage renal disease, and renal replacement therapy. The full-color, highly visual, meticulously crafted format will ensure that the practitioner is able to source and apply information with remarkable ease.
Mismanagement, “Jumpers,” and Morality
Executives’ morality and ethics became major research topics following recent business scandals, but the research missed a major explanation of executives’ immorality: career advancement by "jumping" between firms that causes ignorance of job-pertinent tacit local knowledge, tempting "jumpers" to covertly conceal this ignorance. Generating distrust and ignorance cycles and mismanagement, this choice bars performance-based career advancement and encourages immoral careerism, advancing by immoral subterfuges. Such careerism is a known managerial malady, but explaining its emergence proved challenging as managerial ignorance is covertly concealed as a dark secret on organizations’ dark si...
The SAGE Handbook of Special Education
The second edition of The SAGE Handbook of Special Education provides a comprehensive overview of special education, offering a wide range of views on key issues from all over the world. The contributors bring together up-to-date theory, research and innovations in practice, with an emphasis on future directions for the role of special education in a global context of inclusion. This brand new edition features: " New chapters on families, interagency collaboration and issues of lifelong learning " The UN Convention on the Rights of Persons with Disabilities " Policy reform proposals " Equity and social justice in education " The impact of new thinking on assessment " Issues and developments in classification " The preparation and qualifications that teachers need The Handbook′s breadth, clarity and academic rigour will make it essential reading for researchers and postgraduate students, and also for practitioners, teachers, school managers and administrators.
Surgical Decision Making in Geriatrics
This book is designed to present a comprehensive and state-of the-art approach to all aspects of geriatric surgery within the broad confines of surgery in geriatrics including general surgery, neurosurgery, thoracic surgery, vascular surgery, cardiac surgery, surgical oncology, hepatobiliary and transplant surgery, plastic, colorectal, orthopedic, gynecologic, and urologic surgery. The text is split into four parts. The first part is organized under general considerations on the geriatric surgical patient and includes current trends in geriatric surgery, and a number of important general issues such as practical approaches to reversal of bleeding/anticoagulation, role of anesthetic concerns ...
Genetic Databases
Computer access is the only way to retrieve up-to-date sequences and this book shows researchers puzzled by the maze of URLs, sites, and searches how to use internet technology to find and analyze genetic data. The book describes the different types of databases, how to use a specific database to find a sequence that you need, and how to analyze the data to compare it with your own work. The content also covers sequence phenotype, mutation, and genetic linkage databases; simple repetitive DNA sequences; gene feature identification; and prediction of structure and function of proteins from sequence information. This book will be invaluable to those starting a career in life sciences research as well as to established researchers wishing to make full use of available resources. Describes a wide range of databases: DNA, RNA, protein, pathways, and gene expression Enables readers to access the information they need from databases on the web Includes a directory of URLs for easy reference Invaluable for those starting a career in life sciences research and also for established researchers wishing to make full use of available resources
