Download or read book Hurler Syndrome Mucopolysaccharidosis Type I MPH I Aetiology History Symptoms Treatment etc An Overview written by Dr. Hakim. K. Saboowala and published by Dr.Hakim Saboowala. This book was released on 2023-02-10 with total page 40 pages. Available in PDF, EPUB and Kindle. Book excerpt: Hurler Syndrome/(Mucopolysaccharidosis Type I MPH I): Aetiology, History, Symptoms, Treatment etc. An Overview. Hurler syndrome was first described by German paediatrician, Gertrud Hurler in 1919. It is one of the 11 disorders of the mucopolysaccharidoses (MPS). Hurler syndrome is considered as mucopolysaccharidosis type I (MPH I) and formerly known as gargoylism. It is an inherited lysosomal disorder caused by the absence of an enzyme responsible for the degradation of glycosaminoglycans (GAGs). This leads to a build-up of dermatan sulfate and heparin sulfate in multiple tissues, resulting in progressive deterioration and eventually, death. An attempt has been made in this Booklet to discuss the pathophysiology, evaluation, and management of Hurler Syndrome and the role of the interprofessional team along with relevant ILLUSTRATIONS for better understanding. …Dr. H. K. Saboowala. M.B (Bom) .M.R.S.H.(London)
Download or read book The Difficult Airway written by David B. Glick and published by Springer Science & Business Media. This book was released on 2012-12-05 with total page 308 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Difficult Airway provides a comprehensive textual and visual coverage of how to deal with patients who have expected or unexpected difficult airways. The text begins with a description of the incidence and importance of the difficult airway and then describes the ASA Difficult Airway Algorithm created to facilitate the management of “difficult airways.” The majority of the book features a comprehensive step-by-step approach to the rescue techniques listed as part of the ASA Algorithm. Noted experts in each of the techniques have been recruited by the book editors to present the information. Figures throughout the book illustrate important points and procedures. This is a wonderful resource for professionals in the health care field including anesthesiologists, intensive care physicians, emergency room physicians, nurses, and out-of-hospital first responders.
Download or read book Pediatric Board Study Guide written by Osama Naga and published by Springer. This book was released on 2015-03-27 with total page 611 pages. Available in PDF, EPUB and Kindle. Book excerpt: Covers the most frequently asked and tested points on the pediatric board exam. Each chapter offers a quick review of specific diseases and conditions clinicians need to know during the patient encounter. Easy-to-use and comprehensive, clinicians will find this guide to be the ideal final resource needed before taking the pediatric board exam.
Download or read book Inborn Metabolic Diseases written by K. Tada and published by Springer Science & Business Media. This book was released on 2013-03-14 with total page 421 pages. Available in PDF, EPUB and Kindle. Book excerpt: Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms used for establishing the diagnosis and differential diagnosis. The highly detailed figures illustrate the metabolic derangement in a uniform way, together with essential aspects of the genetics involved, thus affording clarification and better understanding of the treatment. Topics covered range from general aspects such as the clinical approach, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family, to specific discussions of new modes of treatment, including liver, bone marrow transplantation and somatic gene therapy.
Download or read book Newborn Screening for Pompe Disease written by Wuh-Liang Hwu and published by MDPI. This book was released on 2021-09-02 with total page 146 pages. Available in PDF, EPUB and Kindle. Book excerpt: Pompe disease, also known as acid maltase deficiency or acid alpha-glucosidase deficiency, in its most severe form results in a rapidly progressive, neonatal-onset skeletal and cardiomyopathy, leading to early infantile death without treatment. The development of treatment with recombinant enzyme replacement therapy radically transformed the clinical trajectory of those affected, enabling long-term ventilator-free survival with resolution of cardiomyopathy. These positive clinical outcomes resulted in the implementation of newborn screening programs for Pompe disease across the world. This Special Issue highlights some of the experiences of Pompe screening programs worldwide and discusses public policy and ethical issues elicited by presymptomatic screening for Pompe disease.
Download or read book Carpal Tunnel Syndrome and Related Median Neuropathies written by Scott F. M. Duncan and published by Springer. This book was released on 2017-07-03 with total page 309 pages. Available in PDF, EPUB and Kindle. Book excerpt: Practical and user-friendly, this text provides the orthopedic and hand surgeon with all the essential information for diagnosing and treating carpal tunnel syndrome (CTS) and other median neuropathies of the hand and wrist, with special emphasis on challenges and complications. Organized to allow for easy searching of specific subject matter, opening chapters discuss anatomy of the median nerve, history and pathophysiology of CTS, clinical presentation and diagnosis, including imaging, and severity scoring. Presentation of various treatment strategies follows, both non-operative and surgical, including open and endoscopic techniques and revision surgery, incomplete release, transection, use of the reverse radial forearm flap, vein wrap, synovial wrap, and microneurolysis. Other median neuropathies are discussed as well, including neuromas and stimulation for chronic median nerve pain. Generously illustrated, Carpal Tunnel Syndrome and Related Median Neuropathies is a valuable resource for orthopedic and hand surgeons on the evaluation and treatment of complications and complexities arising from carpal tunnel syndrome and surgery.
Download or read book The Clinical Neurophysiology Primer written by Andrew S. Blum and published by Springer Science & Business Media. This book was released on 2007-09-26 with total page 515 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents a broad yet focused treatment of central topics in the field of clinical neurophysiology. The volume was inspired by the clinical neurophysiology lecture series at Beth Israel-Deaconess Medical Center and Rhode Island Hospital. Much like the lecture series, this book is designed to acquaint trainees with the essential elements of clinical neurophysiology. Each chapter is written by leading and respected clinical neurophysiologists.
Download or read book The Short Textbook of Pediatrics written by Suraj Gupte and published by JP Medical Ltd. This book was released on 2016-05-28 with total page 968 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Short Textbook of Pediatrics is the latest edition of this extensive guide to the field of paediatrics, featuring revised, updated and brand new content. New chapters in this edition include fever spectrum, fungal, protozoal, heliminthic, intrauterine, and nosocomial infections and infestations, all in the paediatric infections section. Enhanced by over 815 full colour images, with multiple choice questions and clinical problems at the end of chapters for self-evaluation.
Download or read book Pediatric Rheumatology written by Sujata Sawhney and published by Springer. This book was released on 2016-11-26 with total page 628 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book on rheumatology in children is intended to be a handy tool for all professionals interested in this field. It is divided into five sections: General considerations, arthritic problems, connective tissue diseases, systemic vasculitides and finally a section that covers miscellaneous issues such as Immunodeficiencies, bone heath and uveitis. The book has an easy format with each chapter having one or more clinicalvignettes at the start of the chapter. In addition each chapter outlines the learning objectives and key take home messages. At the end of each section a collection of cases to highlight important issues in the clinic are included. The colorful charts, pictures and tables make reading this book an easy task. The authors are leading experts in their fields working at best practices centers globally to provide the reader with state-of-the-art information.
Download or read book PEDIBLOOM written by K. E. Elizabeth and published by JAYPEE BROTHERS PUBLISHERS. This book was released on 2014-05-14 with total page 641 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book PEDIBLOOM: Pediatric Cases and Summaries is organized in 18 Chapters and Appendices; Basics including Neonatology in the First Section and Systems including Pediatric Surgery in the Second Section. In each chapter, relevant data are summarized, followed by typical case reports and discussion. This format is chosen to initiate a new horizon of self study. The chapters on clinical pediatrics, growth, nutrition, development pediatrics, systemic diseases, intensive care and pediatric surgery are packed with information and practical tips. The different charts, tables and photographs included in the text and appendix form a ready-reckoner to both undergraduate and postgraduate students, researchers and practicing doctors. The lucid style of presentation is commendable and touches upon all major areas of pediatrics."
Download or read book Coronary Heart Disease in Clinical Practice written by Satish Mittal and published by Springer Science & Business Media. This book was released on 2006-01-16 with total page 238 pages. Available in PDF, EPUB and Kindle. Book excerpt: Concise and thorough reference book Affordable book for healthcare professionals involved in the care for cardiac patients, such as primary care physicians, nurses and medical students Offers broad coverage on the subject Incorporates the latest research and government guidelines Discusses aspects of risk modification
Download or read book Laboratory Guide to the Methods in Biochemical Genetics written by Nenad Blau and published by Springer Science & Business Media. This book was released on 2008-05-31 with total page 860 pages. Available in PDF, EPUB and Kindle. Book excerpt: This manual deals specifically with laboratory approaches to diagnosing inborn errors of metabolism. The key feature is that each chapter is sufficiently detailed so that any individual can adopt the described method into their own respective laboratory.
Download or read book Principles and Practice of Screening for Disease written by J. M. G. Wilson and published by . This book was released on 1968 with total page 163 pages. Available in PDF, EPUB and Kindle. Book excerpt: The basic principles of early disease detection, practical considerations, including the application of screening procedures in a number of different disease conditions, and, finally, present techniques and possible developments in methodology. Screening for the chronic non-communicable diseases prevalent in the more advanced countries froms the main subject of the report, but the problems facing countries at other stages of development and with different standards and types of medical care are also discussed, and because of this communicable disease detection is also dealth with to some extent.
Download or read book Therapeutic Enzymes Function and Clinical Implications written by Nikolaos Labrou and published by Springer Nature. This book was released on 2019-09-03 with total page 388 pages. Available in PDF, EPUB and Kindle. Book excerpt: Therapeutic enzymes exhibit fascinating features and opportunities, and represent a significant and promising subcategory of modern biopharmaceuticals for the treatment of several severe diseases. Research and drug developments efforts and the advancements in biotechnology over the past twenty years have greatly assisted the introduction of efficient and safe enzyme-based therapies for a range of both rare and common disorders. The introduction and regulatory approval of twenty different recombinant enzymes has enabled effective enzyme-replacement therapy. This volume aims to overview these therapeutic enzymes, focusing in particular on more recently approved enzymes produced by recombinant DNA technology. This volume is composed of four sections. Section 1 provides an overview of the production process and biochemical characterization of therapeutic enzymes, while Section 2 focuses upon the engineering strategies and delivery methods of therapeutic enzymes. Section 3 highlights the clinical applications of approved therapeutic enzymes, including aspects on their structure, indications and mechanisms of action. Together with information on these mechanisms, safety and immunogenicity issues and various adverse events of the recombinant enzymes used for therapy are discussed. Section 4, provides discussion on the prospective and future developments of new therapeutic enzymes. This book is aimed at academics, researchers and students undertaking advanced undergraduate/postgraduate programs in the biopharmaceutical/biotechnology area who wish to gain a comprehensive understanding of enzyme-based therapeutic molecules.
Download or read book Anesthetic Management for the Pediatric Airway written by Diego Preciado and published by Springer. This book was released on 2019-03-01 with total page 210 pages. Available in PDF, EPUB and Kindle. Book excerpt: The advancement of tactics used in managing pediatric airway disorders can be attributed to an overall growth of collective knowledge among medical health professionals. This book is designed to sustain that growth of knowledge, with 18 chapters of insight and information by distinguished medical experts in both pediatric anesthesia and pediatric otolaryngology. It concisely and thoroughly covers topics such as subglottic stenosis, pharyngeal airway obstruction, laryngeal airway obstruction, obesity and sleep apnea and thoracic airway obstruction, among others. Chapters include scenarios where the skills and expertise of both anesthesiologists and otolaryngologists are being continually tested; the use of newer drugs and repurposing of older drugs; the combination of smaller amounts of different types of sedatives while avoiding intra-op narcotics and maintaining spontaneous ventilation are described in detail; Finally, a comprehensive review of new research emerging about ultra-rapid narcotics metabolizers among patients, making them more susceptible to medications, such as codeine, along with the latest information on the purported potential neurodevelopmental toxicity of some anesthetic agents are also included. Working as both an educational tool and a practical resource, medical practitioners, students and educators will find this text to be a valuable tool for the safely managing the pediatric patient undergoing anesthesia for difficult airway scenarios.
Download or read book Rare Disease Drug Development written by Raymond A. Huml and published by Springer Nature. This book was released on 2021-11-08 with total page 418 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a broad overview of rare disease drug development. It offers unique insights from various perspectives, including third-party capital providers, caregivers, patient advocacy groups, drug development professionals, marketing and commercial experts, and patients. A unique reference, the book begins with narratives on the many challenges faced by rare disease patient and their caregivers. Subsequent chapters underscore the critical, multidimensional role of patient advocacy groups and the novel approaches to related clinical trials, investment decisions, and the optimization of rare disease registries. The book addresses various rare disease drug development processes by disciplines such as oncology, hematology, pediatrics, and gene therapy. Chapters then address the operational aspects of drug development, including approval processes, development accelerations, and market access strategies. The book concludes with reflections on the authors' case for real-world data and evidence generation in orphan medicinal drug development. Rare Disease Drug Development is an expertly written text optimized for biopharmaceutical R&D experts, commercial experts, third-party capital providers, patient advocacy groups, patients, and caregivers.
Download or read book Hemoglobin Disorders written by Ronald L. Nagel and published by Springer Science & Business Media. This book was released on 2008-02-01 with total page 311 pages. Available in PDF, EPUB and Kindle. Book excerpt: Hemoglobin and Hemoglobinologists This volume, Hemoglobin Disorders: Molecular Methods and Protocols, will be introduced with a review of the great milestones in the field, and the scientists responsible for those achievements. The history of hemoglobin can be divided into three periods: the Classical period, the Modern period, and the Post-Modern period. I am inclined to include as the four major members of the classical period Francis Roughton, Quentin Gibson, Jeffries Wyman, and Linus Pauling, not only because of their achievements, but also because of the superb scientists they trained and/or influenced. Francis John Worsely Roughton (1899–1972) (Fig. 1), in his laboratory at Trinity College in Cambridge, England, made the first measurements of the rapid reaction of oxygen with hemoglobin at the millisecond scale, at first by flow-mixing methods and later by flash photolysis. He not only opened an era of molecular research of hemoglobin, but also invented the methodology for fast reactions through the use of laser technology, which was later improved by others so that even faster reactions could be detected. Another contribution of Roughton was the education of Quentin H. Gibson (Fig. 2), his favorite s- dent, who, in his laboratory in Sheffield, continued to expand the horizon of ligand binding to hemoglobin, defining the oxygen binding constants for each of the hemes of hemoglobin. Though this did not, as expected, solve the und- lying mechanism of ligand cooperativity as discussed below, it was nonet- less an important milestone.
