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Author: Georg F. Hoffmann
Publisher: Nova Science Publishers
ISBN: 9781634630719
Category : Medical
Languages : en
Pages : 0
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Book Description
Congenital neurotransmitter disorders are nowadays recognised as important causes of severe, progressive encephalopathies mostly of early onset. They are ultraorphan diseases and numerous experiences confirm again and again that diagnosis and treatment of patients is often almost regularly delayed for many years, if ever at all. Specific therapeutic approaches which can lead to excellent outcomes, especially if instituted early, are thereby withheld from patients and their families. The diagnosis of these disorders is almost exclusively based on clinical signs and symptoms leading to measurement of metabolites in CSF, specifically the quantitative determination of the neurotransmitters or their metabolites, that is the amino acids glutamate, glycine and GABA, the acidic metabolites of the biogenic monoamines, and tetrahydrobiopterin metabolites. Important relationships have emerged in disturbances of folate- and vitamin B6-metabolism. Whilst the majority of the identified disorders are due to inherited enzyme deficiencies, defects in transport of active compounds (transpotopathies) have been reported very recently. There is however still widespread uncertainty about when to perform specialised CSF investigations and what to investigate, and these services are unavailable in most countries. The main focus of this book is the clinical approach to these disorders. We wanted to provide as much detailed information and recommendations on therapy, monitoring and follow-up as possible and hope for quicker and improved therapy for affected individuals. A further growing awareness of these disorders is needed to allow increased and earlier diagnosis of patients. Neuropediatricians and neurologists must become more familiar with the broad clinical spectrum of monogenic neurometabolic diseases, the role and place of specialised CSF investigations, and the available therapeutic approaches. Hopefully this publication will play its part in and expedite this process.
Author: Georg F. Hoffmann
Publisher: Nova Science Publishers
ISBN: 9781634630719
Category : Medical
Languages : en
Pages : 0
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Book Description
Congenital neurotransmitter disorders are nowadays recognised as important causes of severe, progressive encephalopathies mostly of early onset. They are ultraorphan diseases and numerous experiences confirm again and again that diagnosis and treatment of patients is often almost regularly delayed for many years, if ever at all. Specific therapeutic approaches which can lead to excellent outcomes, especially if instituted early, are thereby withheld from patients and their families. The diagnosis of these disorders is almost exclusively based on clinical signs and symptoms leading to measurement of metabolites in CSF, specifically the quantitative determination of the neurotransmitters or their metabolites, that is the amino acids glutamate, glycine and GABA, the acidic metabolites of the biogenic monoamines, and tetrahydrobiopterin metabolites. Important relationships have emerged in disturbances of folate- and vitamin B6-metabolism. Whilst the majority of the identified disorders are due to inherited enzyme deficiencies, defects in transport of active compounds (transpotopathies) have been reported very recently. There is however still widespread uncertainty about when to perform specialised CSF investigations and what to investigate, and these services are unavailable in most countries. The main focus of this book is the clinical approach to these disorders. We wanted to provide as much detailed information and recommendations on therapy, monitoring and follow-up as possible and hope for quicker and improved therapy for affected individuals. A further growing awareness of these disorders is needed to allow increased and earlier diagnosis of patients. Neuropediatricians and neurologists must become more familiar with the broad clinical spectrum of monogenic neurometabolic diseases, the role and place of specialised CSF investigations, and the available therapeutic approaches. Hopefully this publication will play its part in and expedite this process.
Author: Nenad Blau
Publisher: Springer
ISBN: 3642403379
Category : Medical
Languages : en
Pages : 880
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Book Description
This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases.
Author: Carla E. M. Hollak
Publisher: Oxford University Press
ISBN: 0199972133
Category : Medical
Languages : en
Pages : 657
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Book Description
As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever. Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a that topic will become a growing imperative for physicians across primary and specialized care.
Author: E.A.C.M. Sanders
Publisher: Springer Science & Business Media
ISBN: 9400933177
Category : Medical
Languages : en
Pages : 276
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Book Description
There is perhaps no area of neuro-ophthalmology that is advancing more rapidly with respect to an understanding of its anatomy and physiology than the ocular motor system. For this reason, it is difficult not only to keep up with the latest information concerning the basic mechanisms involved in the control of eye movements but also to remain up to date regarding the pathophysiology of specific disorders of eye movement. The material in this book is derived from a two-day course on eye movements held in The Netherlands in 1986. The course was designed as an introduction to the normal ocular motor system and to disorders of eye movements and was aimed toward orthoptists, ophthalmolo gists, optometrists, neurologists, and neurosurgeons. The chapters in this book were compiled by a trio of experts in the field of eye movements and contain discussions of anatomy and physiology of the ocular motor system, techniques of examination of patients with diplopia, and pathophysiology of specific disorders of ocular motility. Many of the authors of these chapters are among the most active investigators of eye movements in the world today, and their comments thus reflect the latest information in the field. This text is both basic and com prehensive and thus has something for everyone, from the student just beginning a study of the ocular motor system to the seasoned 'veteran' who wishes to know the latest information regarding central ocular motor control mechanisms. Neil R.
Author: Juan M. Pascual
Publisher: Cambridge University Press
ISBN: 1107042054
Category : Medical
Languages : en
Pages : 507
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Book Description
A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.
Author: Simon Shorvon
Publisher: Cambridge University Press
ISBN: 1108420753
Category : Medical
Languages : en
Pages : 1013
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Book Description
Expanded and revised, this unique book provides concise descriptions of the many causes of epilepsy, for use in clinical practice.
Author: Kapil D. Sethi
Publisher: Springer Nature
ISBN: 3030537218
Category : Medical
Languages : en
Pages : 145
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Book Description
This book addresses the challenges in the differential diagnosis and management of paroxysmal movement disorders. It provides the latest information on the genetics and pathophysiology, neurophysiology and neuroimaging of the core group of disorders in the field, namely the paroxysmal dyskinesias (PxD). Focused and concise, this guide features chapters that discuss other conditions that may be paroxysmal such as, episodic ataxia, startle syndromes and other more complicated groups of paroxysmal movement disorders such as ATP1A3 spectrum disorders. A chapter on secondary (acquired) paroxysmal dyskinesia highlights medical and other disorders that may result in paroxysmal dyskinesia. The book features a particularly nuanced chapter that discusses recent discoveries in the genetic aspects of PxD, relaying that paroxysmal dyskinesias are not channelpathies, but in fact are synaptophies and transportopathies. Additionally, expertly written chapters are supplemented by high quality images, tables, and videos. Paroxysmal Movement Disorders: A Practical Guide is primarily written to educate the reader on how to make a syndromic diagnosis of paroxysmal movement disorders and how to build the diagnostic work-up accordingly, as well as how to manage patients with paroxysmal movement disorders.
Author: Donald L. Schomer
Publisher: Lippincott Williams & Wilkins
ISBN: 1451153155
Category : Medical
Languages : en
Pages : 1308
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Book Description
The leading reference on electroencephalography since 1982, Niedermeyer's Electroencephalography is now in its thoroughly updated Sixth Edition. An international group of experts provides comprehensive coverage of the neurophysiologic and technical aspects of EEG, evoked potentials, and magnetoencephalography, as well as the clinical applications of these studies in neonates, infants, children, adults, and older adults. This edition's new lead editor, Donald Schomer, MD, has updated the technical information and added a major new chapter on artifacts. Other highlights include complete coverage of EEG in the intensive care unit and new chapters on integrating other recording devices with EEG; transcranial electrical and magnetic stimulation; EEG/TMS in evaluation of cognitive and mood disorders; and sleep in premature infants, children and adolescents, and the elderly. A companion website includes fully searchable text and image bank.
Author: National Organization for Rare Disorders
Publisher: Lippincott Williams & Wilkins
ISBN: 9780781730631
Category : Medical
Languages : en
Pages : 982
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Book Description
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.
Author: Johannes Zschocke
Publisher: Schattauer Verlag
ISBN: 3794528166
Category : Pediatrics
Languages : en
Pages : 188
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Book Description
