Current Insights Into LAMA2 Disease
Author | : Stefano Carlo Previtali |
Publisher | : Frontiers Media SA |
Total Pages | : 113 |
Release | : 2022-01-10 |
Genre | : Science |
ISBN | : 2889740129 |
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Author | : Stefano Carlo Previtali |
Publisher | : Frontiers Media SA |
Total Pages | : 113 |
Release | : 2022-01-10 |
Genre | : Science |
ISBN | : 2889740129 |
Author | : Tobias Ruck |
Publisher | : Frontiers Media SA |
Total Pages | : 340 |
Release | : 2020-04-01 |
Genre | : |
ISBN | : 2889636437 |
Author | : George Karpati |
Publisher | : Cambridge University Press |
Total Pages | : 800 |
Release | : 2001-07-12 |
Genre | : Medical |
ISBN | : 9780521650625 |
Rewritten and redesigned, this remains the one essential text on the diseases of skeletal muscle.
Author | : Moyra Smith |
Publisher | : Elsevier |
Total Pages | : 400 |
Release | : 2024-10-22 |
Genre | : Science |
ISBN | : 044323647X |
Genetic Disease Discovery and Therapeutics presents information on the methods used to determine how specific gene defects influence pathology and phenotype and to review novel therapeutic approaches designed for the treatment of specific genetic and genomic disorders.This book investigates methodologies applied to the characterization of downstream functional effects of specific gene mutations associated with altered phenotypes and clinical disease. It documents evidence of how specific mutations influence pathology and lead to disease manifestations. This book also reviews information on therapeutic approaches that could potentially be applied in diseases due to gene defects. Genetic Disease Discovery and Therapeutics is a valuable reference for scientists and graduate students involved in laboratory research related to genetics, physiology, pathology, and pharmacology as well as clinicians who encounter patients with genetic disorders. - Considers refined diagnostic techniques for genetic diseases - Documents evidence regarding mechanisms through which gene defects alter biochemical function and lead to pathology - Presents new techniques being applied to the treatment of gene and genome-based disorders - Aims to consider the goals of personalized precision medicine as defined by the NIH
Author | : Tien Y Wong |
Publisher | : |
Total Pages | : 310 |
Release | : 2020-10-08 |
Genre | : Medical |
ISBN | : 9781013274091 |
This book is open access under a CC BY 4.0 license. This open access book discusses basic clinical concepts of myopia, prevention of progression and surgical treatments for myopia and pathological myopia. It also summarises the latest evidence and best practices for managing myopia, high myopia and its complications. Written by leading experts, the book addresses clinical diagnosis and interpretation of imaging modalities, and various complications of myopia such as glaucoma, choroidal neovascularization, retinal degeneration and cataracts. It is a valuable comprehensive resource for general and sub-specialist ophthalmologists as well as residents and ophthalmologists in training.; This work was published by Saint Philip Street Press pursuant to a Creative Commons license permitting commercial use. All rights not granted by the work's license are retained by the author or authors.
Author | : Stéphane Cook |
Publisher | : Frontiers Media SA |
Total Pages | : 160 |
Release | : 2022-09-15 |
Genre | : Medical |
ISBN | : 2889769704 |
Author | : Frederik Barkhof |
Publisher | : Springer |
Total Pages | : |
Release | : 2019-04-16 |
Genre | : Medical |
ISBN | : 9783319685359 |
This superbly illustrated textbook, endorsed by the European Society of Neuroradiology, explains in detail the clinical importance of neuroradiology in complementing history taking and physical examination during the workup of patients suspected of having neurological, neurosurgical, or psychiatric disorders. The role of imaging of the brain and spinal cord is described across the full range of relevant conditions, including, for example, cerebrovascular diseases, trauma, CSF disorders, developmental malformations, autoimmune diseases, epilepsy, tumors and tumor-like conditions, neurodegenerative diseases, metabolic conditions, and bipolar and depressive disorders. The structured approach to imaging and image analysis will ensure that the book is an invaluable resource for neuroradiologists in training and clinicians alike. Starting from the clinical indication, suggestions for imaging protocols are provided and checklists of common findings and aspects key to interpretation are presented. The book is published within the SpringerReference program, which combines thorough coverage with access to living editions constantly updated via a dynamic peer-review process.
Author | : Gianluigi Zaza |
Publisher | : MDPI |
Total Pages | : 168 |
Release | : 2020-12-29 |
Genre | : Medical |
ISBN | : 303936782X |
Rare kidney diseases comprise a large group of different life-threatening or chronically debilitating disorders that affect very small numbers of people (<1 in 2000 individuals in Europe and <200,000 in USA) with local or systemic manifestations. For several years, the research and development of treatments in this field have been neglected in favor of more common diseases. The main reasons for the lack of interest in rare kidney diseases seem to be the small numbers of patients and limited epidemiological data on the natural history of many of these diseases. Rare diseases can affect people differently. Even patients with the same condition can exhibit very different signs and symptoms, or there may be many subtypes of the same condition. This diversity constitutes a significant challenge to healthcare practitioners and scientists alike, in terms of being able to acquire sufficient experience for the most appropriate and timely definition, diagnosis, and management. Fortunately, in the last ten years, concerted efforts have led to a marked improvement in the understanding of these disorders. In particular, an important step forward has been taken with the employment of innovative technologies (including next-generation sequencing), in order to replace obsolete phenotypic classifications and to discover new useful diagnostic biomarkers. These new tools are, in fact, becoming part of routine clinical practice, increasing diagnostic accuracy and facilitating genetic counseling. Moreover, biomedical research, providing insights into the pathologies of these rare diseases and elucidating their underlying mechanisms, is revealing new therapeutic avenues and driving the industry to develop safer and more effective orphan drugs. Finally, in this field, it is desirable that, in the future, the crosstalk between basic scientists and clinicians could achieve a great clinical benefit by improving the quality of life of these patients as well. This Special Issue welcomes scientific contributions and critical reviews describing new pathogenetic insights, reporting novel and specific disease biomarkers, and underlying new pharmacological targets or therapies for rare diseases of the kidney and urinary tract.
Author | : Corrado Angelini |
Publisher | : Springer |
Total Pages | : 392 |
Release | : 2017-10-05 |
Genre | : Medical |
ISBN | : 3319564544 |
This updated and expanded new edition of a successful book describes genetic diagnostic entities of neuromuscular disorders. Neuromuscular syndromes are presented clinically either as a case study or as an overview from the literature, accompanied by text presenting molecular defects, and differential diagnosis. This collection of neuromuscular disorders features the differential clinical phenotypes related to each genotype and are representative of the whole spectrum of a genetic muscle disorder, helping the clinician and neuromuscular physician to make a diagnosis. Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. Genetic Neuromuscular Disorders: A Case-Based Approach is aimed at neuromuscular physicians and neurology residents.
Author | : Robert Palisano |
Publisher | : Elsevier Health Sciences |
Total Pages | : 1051 |
Release | : 2022-08-20 |
Genre | : Medical |
ISBN | : 0323797970 |
**Selected for Doody's Core Titles® 2024 with "Essential Purchase" designation in Physical Therapy** Gain a solid foundation in physical therapy for infants, children, and adolescents! Campbell's Physical Therapy for Children, 6th Edition provides essential information on pediatric physical therapy practice, management of children with musculoskeletal, neurological, and cardiopulmonary conditions, and special practice settings. Following the APTA's Guide to Physical Therapist Practice, this text describes how to examine and evaluate children, select evidence-based interventions, and measure outcomes to help children improve their body functions, activities, and participation. What also sets this book apart is its emphasis on clinical reasoning, decision making, and family-centered care. Written by a team of PT experts led by Robert J. Palisano, this book is ideal for use by students and by clinicians in daily practice. - Comprehensive coverage provides a thorough understanding of foundational knowledge for pediatric physical therapy, including social determinants of health, development, motor control, and motor learning, as well as physical therapy management of pediatric disorders, including examination, evaluation, goal setting, the plan of care, and outcomes evaluation. - Focus on the elements of patient/client management in the APTA's Guide to Physical Therapist Practice provides a framework for clinical decision making. - Focus on the International Classification of Functioning, Disability, and Health (ICF) of the World Health Organization (WHO) provides a standard language and framework for the description of health and health-related states, including levels of a person's capacity and performance. - Experienced, expert contributors help you prepare to become a Board-Certified Pediatric Clinical Specialist and to succeed on the job. - NEW! New chapter on social determinants of health and pediatric healthcare is added to this edition. - NEW! New chapter on Down syndrome is added. - NEW! 45 case scenarios in the ebook offer practice with clinical reasoning and decision making, and 123 video clips depict children's movements, examination procedures, and physical therapy interventions. - NEW! An ebook version is included with print purchase, providing access to all the text, figures, and references, plus the ability to search, customize content, make notes and highlights, and have content read aloud.