Download or read book Progressive Brain Disorders in Childhood written by Juan M. Pascual and published by Cambridge University Press. This book was released on 2017-04-20 with total page 507 pages. Available in PDF, EPUB and Kindle. Book excerpt: A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.

Download or read book The Metabolic Molecular Bases of Inherited Disease written by Charles R. Scriver and published by New York ; Montreal : McGraw-Hill. This book was released on 2001 with total page 6338 pages. Available in PDF, EPUB and Kindle. Book excerpt: Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.

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 Pediatric Ophthalmology and Strabismus written by Mitchell B. Strominger and published by Elsevier Health Sciences. This book was released on 2008-01-01 with total page 238 pages. Available in PDF, EPUB and Kindle. Book excerpt: This title in the Rapid Diagnosis in Ophthalmology Series presents a wealth of full-color images - along with differential diagnoses - in side-by-side page layouts to assist you in identifying a full range of disorders. A templated format expedites access to the guidance you need to diagnose the most common conditions related to pediatric ophthalmology and strabismus - from simple to complex - encountered in practice. Coverage of cutting-edge topics including phacomatosis, congenital ocular anomalies, TORCH syndrome, and more, help you keep your knowledge up to date. Hundreds of full-color images present onditions as they present in real life. Common diagnostic pitfalls discuss what to look out for when making a difficult diagnosis. A templated, color-coded layout and differential diagnosis boxes for each condition help you make quick, accurate clinical decisions. A focus on the most common conditions encountered in practice allows you to efficiently formulate treatment plans and referrals. SERIES EDITORS: Jay S. Duker, MD, Director, New England Eye Center, Vitreoretinal Diseases and Surgery Service; Director, Pediatric Retinal Referral Center, Uveitis & Immunology Service; Professor and Chair of Ophthalmology, Tufts University School of Medicine, Boston, MA and Marian S. Macsai, MD, Chief, Division of Ophthalmology, Evanston Northwestern Healthcare; Professor and Vice-Chair of the Department of Ophthalmology, Feinberg School of Medicine, Northwestern University, MI

Download or read book Atlas of Inherited Metabolic Diseases written by William L Nyhan and published by CRC Press. This book was released on 2020-07-14 with total page 871 pages. Available in PDF, EPUB and Kindle. Book excerpt: In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to. The content is divided into sections of related disorders, including disorders of amino acid metabolism, lipid storage disorders, and mitochondrial diseases for ease of reference, with an introductory outline where appropriate summarizing the biochemical features and general management issues. Within the sections, each chapter deals with an individual disease, opening with a useful summary of major phenotypic expression including clear and helpful biochemical pathways, identifying for the reader exactly where the defect occurs. Throughout the book, plentiful photographs, often showing extremely rare disorders, are an invaluable aid to diagnosis. Key Features • Fully updated to incorporate all new developments in the field • Brand new chapters cover methylmalonic aciduria of ACSF3 deficiency, branched chain keto acid dehydrogenase deficiency, serine deficiencies, purine nucleoside phosphorylase deficiency, antiquitin deficiency, and others • Excellent and detailed clinical descriptions, with numerous valuable hints and suggestions for management • Helpful explanatory algorithms and decision trees, and high-quality illustrative material including biochemical pathways and an unrivaled photographic collection, which enhance clinical applicability The fourth edition of this highly regarded book, authored by two of the foremost authorities in pediatric metabolic medicine, continues to provide incomparable insight into the problems associated with metabolic diseases and remains invaluable to pediatricians, geneticists, and general clinicians worldwide.

Download or read book Mucopolysaccharidoses Update 2 Volume Set written by Shunji Tomatsu and published by . This book was released on with total page 992 pages. Available in PDF, EPUB and Kindle. Book excerpt: Mucopolysaccharidoses (MPS) are caused by a deficiency of lysosomal enzyme activities needed to degrade glycosaminoglycans (GAGs), which are long unbranched polysaccharides consisting of repeating disaccharides. GAGs include: Chondroitin sulfate (CS), dermatan sulfate (DS), heparan sulfate (HS), keratan sulfate (KS), and hyaluronan. Their catabolism may be blocked singly or in combination depending on the specific enzyme deficiency. There are eleven known enzyme deficiencies, resulting in seven distinct forms of MPS with a collective incidence higher than 1 in 25,000 live births. Accumulation of undegraded metabolites in lysosomes gives rise to distinct clinical syndromes. Generally, the clinical conditions progress if untreated, leading to developmental delay, systemic skeletal deformities, and early death.Other clinical features include coarse facial features, corneal clouding, recurrent ear and nose infections, inguinal and umbilical hernias, hepatosplenomegaly, heart valvular disease and skeletal deformities. Clinical features related to bone lesions may include marked short stature, cervical stenosis, pectus carinatum, small lungs, joint rigidity (but laxity for MPS IV), kyphoscoliosis, lumbar gibbus, and genu valgum. Patients with MPS are often wheelchair-bound and physical handicaps increase with age as a result of progressive skeletal dysplasia, abnormal joint mobility, and osteoarthritis. Patients may need multiple orthopedic procedures including cervical decompression and fusion, carpal tunnel release, hip reconstruction and replacement, and femoral or tibial osteotomy throughout their lifetime. Current measures to intervene in bone disease progression and CNS involvement are not perfect and palliative, and improved therapies are urgently required and are being proposed.Enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), and gene therapy are available or in development for some types of MPS. Delivery of sufficient enzymes to the brain and bones, especially avascular cartilage, to prevent or ameliorate the devastating neurological defects and skeletal dysplasias remains an unmet challenge. The use of an anti-inflammatory drug is also under clinical study. Therapies should start at a very early stage prior to irreversible bone lesion and damage, since the severity of CNS involvement and skeletal dysplasia is associated with the level of activity in a patient's daily life.For the maximum benefit of available therapies, early detection and intervention are critical. Newborn screening and diagnostic systems have been developed by using tandem mass spectrometry. We review the history of diagnosis and newborn screening as well. Overall, this book illustrates a to-date overview of the pathogenesis, diagnosis, biomarkers, screening, and updated therapies as well as their impact on MPS, including ERT, HSCT, gene therapy, and anti-inflammatory drugs. History and activities of MPS societies are also described. It is a comprehensive textbook meant to cover many areas in the field of MPS and appeals to a broad spectrum of readers including physicians, scientists, students, pharmaceutical companies, and MPS communities.

Download or read book NORD Guide to Rare Disorders written by National Organization for Rare Disorders and published by Lippincott Williams & Wilkins. This book was released on 2003 with total page 982 pages. Available in PDF, EPUB and Kindle. Book excerpt: NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.

Download or read book Radiology of Syndromes Metabolic Disorders and Skeletal Dysplasias written by Hooshang Taybi and published by Mosby Incorporated. This book was released on 1996 with total page 1135 pages. Available in PDF, EPUB and Kindle. Book excerpt: Intended for the practitioner and student, this clinical radiologic reference is one of the most widely used by pediatric radiologists today. This edition features an expanded Gamuts section, which presents differential diagnoses of various clinical and radiologic symptoms and signs. Genetic information on syndromes and disorders is also included.

Download or read book Connective Tissue and Its Heritable Disorders written by Peter M. Royce and published by John Wiley & Sons. This book was released on 2003-04-14 with total page 1201 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Second Edition of Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects is the definitive reference text in its field, with over 40% more pages on the nature, diagnosis, and treatment of disease than its predecessor. Collecting new research on disorders detailed in the first edition as well as on those previously excluded, editors Peter Royce and Beat Steinmann provide the most up-to-date clinical and scientific information for medical specialists treating affected individuals. Features of this revised and updated volume include detailed reviews of the clinical diagnosis, mode of inheritance, risk of recurrence, and prenatal diagnosis of each inherited connective tissue disorder; a thorough description of the morphology of connective tissues; a completely updated and revised section on the biology of the extracellular matrix; and the addition of syndromes such as craniosyntosis, and disorders of sulfate metabolism.

Download or read book Challenging Cases in Dermatology Volume 2 written by Mohammad Ali El-Darouti and published by Springer Nature. This book was released on 2019-08-28 with total page 548 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book comprehensively covers a range of challenging cases in dermatology. It provides easy to follow guidance on how to successfully diagnose and treat a range of unusual diseases with a range of figures with informative legends and clinical data focused exercises to enable the reader to gain confidence and a deep understanding of why the diagnostic and treatment procedures taken in each case were chosen. Cases covered include follicular disorders, melanocytic diseases, vascular tumors, cutaneous lymphomas, and bullous diseases. This second volume of Challenging Cases in Dermatology systematically describes a range of unusual and rare clinical cases in dermatology. It is therefore a valuable resource for all trainee and practising dermatologists looking to further develop their knowledge and understanding of how to successfully diagnose and treat rare and challenging diseases.

Download or read book The European Blood and Marrow Transplantation Textbook for Nurses written by Michelle Kenyon and published by Springer. This book was released on 2018-03-14 with total page 318 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is open access under a CC BY 4.0 license. This textbook, endorsed by the European Society for Blood and Marrow Transplantation (EBMT), provides adult and paediatric nurses with a full and informative guide covering all aspects of transplant nursing, from basic principles to advanced concepts. It takes the reader on a journey through the history of transplant nursing, including essential and progressive elements to help nurses improve their knowledge and benefit the patient experience, as well as a comprehensive introduction to research and auditing methods. This new volume specifically intended for nurses, complements the ESH-EBMT reference title, a popular educational resource originally developed in 2003 for physicians to accompany an annual training course also serving as an educational tool in its own right. This title is designed to develop the knowledge of nurses in transplantation. It is the first book of its kind specifically targeted at nurses in this specialist field and acknowledges the valuable contribution that nursing makes in this area. This volume presents information that is essential for the education of nurses new to transplantation, while also offering a valuable resource for more experienced nurses who wish to update their knowledge.

Download or read book Behavioural Phenotypes written by Gregory O'Brien and published by Cambridge University Press. This book was released on 1995 with total page 236 pages. Available in PDF, EPUB and Kindle. Book excerpt: Increasing interest over recent years in the study of the influences of environment and genetic factors on behavioural disorder has come from a wide range of disciplines. These studies have subsequently been focused through the foundation of the Society for the Study of Behavioural Phenotypes, which forms the basis for assimilating new information and coordinating future research in this field. This volume from founder members of the society presents a distillation of thinking and reviews appropriate measurement schedules. Including research findings, explanation of concepts, genetic scientific techniques and methodological issues, this work will be welcomed by those with an interest in behavioural disorder at every level.

Download or read book Pediatric Sleep Medicine written by David Gozal and published by Springer Nature. This book was released on 2021-04-15 with total page 719 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides comprehensive coverage of all aspects related to pediatric sleep and its associated disorders. It addresses the ontogeny and maturational aspects of physiological sleep and circadian rhythms, as well as the effects of sleep on the various organ systems as a function of development. Organized into nine sections, the book begins with a basic introduction to sleep, and proceeds into an extensive coverage of normative sleep and functional homeostasis. Part three then concisely examines the humoral and developmental aspects of sleep, namely the emerging role of metabolic tissue and the intestinal microbiota in regulation. Parts four, five, and six discuss diagnoses methods, techniques in sleep measurement, and specific aspects of pharmacotherapy and ventilator support for the pediatric patient. Various sleep disorders are explored in part seven, followed by an in-depth analysis of obstructive sleep apnea in part eight. The book concludes with discussions on the presence of sleep issues in other disorders such as Down syndrome, obesity, cystic fibrosis, and asthma. Written by recognized leaders in the field, Pediatric Sleep Medicine facilitates an extensive learning experience for practicing physicians who encounter specific sleep-related issues in their practice.

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 Pediatric Neurology Part III written by and published by Newnes. This book was released on 2013-04-24 with total page 731 pages. Available in PDF, EPUB and Kindle. Book excerpt: The child is neither an adult miniature nor an immature human being: at each age, it expresses specific abilities that optimize adaptation to its environment and development of new acquisitions. Diseases in children cover all specialties encountered in adulthood, and neurology involves a particularly large area, ranging from the brain to the striated muscle, the generation and functioning of which require half the genes of the whole genome and a majority of mitochondrial ones. Human being nervous system is sensitive to prenatal aggression, is particularly immature at birth and development may be affected by a whole range of age-dependent disorders distinct from those that occur in adults. Even diseases more often encountered in adulthood than childhood may have specific expression in the developing nervous system. The course of chronic neurological diseases beginning before adolescence remains distinct from that of adult pathology – not only from the cognitive but also motor perspective, right into adulthood, and a whole area is developing for adult neurologists to care for these children with persisting neurological diseases when they become adults. Just as pediatric neurology evolved as an identified specialty as the volume and complexity of data became too much for the general pediatician or the adult neurologist to master, the discipline has now continued to evolve into so many subspecialties, such as epilepsy, neuromuscular disease, stroke, malformations, neonatal neurology, metabolic diseases, etc., that the general pediatric neurologist no longer can reasonably possess in-depth expertise in all areas, particularly in dealing with complex cases. Subspecialty expertise thus is provided to some trainees through fellowship programmes following a general pediatric neurology residency and many of these fellowships include training in research. Since the infectious context, the genetic background and medical practice vary throughout the world, this diversity needs to be represented in a pediatric neurology textbook. Taken together, and although brain malformations (H. Sarnat & P. Curatolo, 2007) and oncology (W. Grisold & R. Soffietti) are covered in detail in other volumes of the same series and therefore only briefly addressed here, these considerations justify the number of volumes, and the number of authors who contributed from all over the world. Experts in the different subspecialties also contributed to design the general framework and contents of the book. Special emphasis is given to the developmental aspect, and normal development is reminded whenever needed – brain, muscle and the immune system. The course of chronic diseases into adulthood and ethical issues specific to the developing nervous system are also addressed. - A volume in the Handbook of Clinical Neurology series, which has an unparalleled reputation as the world's most comprehensive source of information in neurology - International list of contributors including the leading workers in the field - Describes the advances which have occurred in clinical neurology and the neurosciences, their impact on the understanding of neurological disorders and on patient care

Download or read book The Pediatric and Adolescent Hip written by Sattar Alshryda and published by Springer. This book was released on 2019-06-28 with total page 888 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides an evidence-based approach to treating the increasing number of children and adolescents presenting with hip disorders. It integrates the most up-to-date data with essential knowledge, gleaned from decades of previous research and practice. Each chapter provides a comprehensive text which integrates relevant pathophysiology, clinical assessment, and imaging, with an evidence-based approach to non-operative and operative management, authored by globally recognized experts in the field of pediatric hip surgery. Detailed surgical techniques, illustrated with original medical drawings and accompanied by their respective indications, anticipated outcomes, and potential complications, are also featured, in this first orthopedic text dedicated solely to the pediatric and adolescent hip. The Paediatric and Adolescent Hip: Essentials and Evidence will be an indispensable resource for wide spectrum of audience including paediatric orthopaedic surgeons, general practitioners, general orthopaedic surgeons, trauma surgeons, orthopaedic residents, emergency department doctors, and physiotherapists seeking a clear and consistent evidence-based guide to treating the paediatric hip.

Download or read book Cross Sectional Imaging of the Abdomen and Pelvis written by Khaled M. Elsayes and published by Springer. This book was released on 2015-03-26 with total page 1062 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book offers concise descriptions of cross-sectional imaging studies of the abdomen and pelvis, supplemented with over 1100 high-quality images and discussion of state-of-the-art techniques. It is based on the most common clinical cases encountered in daily practice and uses an algorithmic approach to help radiologists arrive first at a working differential diagnosis and then reach an accurate diagnosis based on imaging features, which incorporate clinical, laboratory, and other underlying contexts. The book is organized by anatomical organ of origin and each chapter provides a brief anatomical background of the organ under review; explores various cross-sectional imaging techniques and common pathologies; and presents practical algorithms based on frequently encountered imaging features. Special emphasis is placed on the role of computed tomography (CT) and magnetic resonance imaging (MRI). In addition to algorithmic coverage of many pathological entities in various abdominopelvic organs, unique topics are also examined, such as imaging of organ transplant (including kidney, liver and pancreas), evaluation of perianal fistula, and assessment of rectal carcinoma and prostate carcinoma by MRI. Cross-Sectional Imaging of the Abdomen and Pelvis: A Practical Algorithmic Approach is a unique and practical resource for radiologists, fellows, and residents.