Progressive Brain Disorders in Childhood PDF Download
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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: 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: Aubrey Milunsky
Publisher: Springer Science & Business Media
ISBN: 1468434381
Category : Medical
Languages : en
Pages : 718
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Book Description
Technological advances continue to expand the number of genetic disorders that can be diagnosed in utero. Utilization of this new technology has de manded special expertise available in relatively few academic centers. As these new applications have become more widespread so have the realities of the medicolegal implications. Notwithstanding the laboratory challenges, most legal action, at least in the United States, has arisen from the physician's failure to inform a patient about the risks of a genetic disorder or the oppor tunities presented by prenatal diagnosis. Hence an extensive thorough reex amination of the subject seems appropriate and timely. The steady escalation in the number of prenatal genetic studies now being done in the western world makes it imperative for the physician to have a thorough comprehension of the subject in its entirety. I am, therefore, fortu nate in having colleagues who as acknowledged experts have shared their knowledge and experience in order to make this volume a major critical repository of facts and guidance about prenatal genetic diagnosis. The subject matter ranges from a consideration of required genetic counseling through the intricacies of establishing prenatal diagnoses. Special attention is focused on new advances using ultrasound, a-fetoprotein, fetoscopy, and first trimester diagnosis. Both ethical and legal implications are discussed in detail, as is the development of public policy.
Author: Charles R. Scriver
Publisher: New York ; Montreal : McGraw-Hill
ISBN: 9780071363198
Category : Genetic disorders
Languages : en
Pages : 6338
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Book Description
Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
Author: Hooshang Taybi
Publisher: Mosby Incorporated
ISBN: 9780815187097
Category : Medical
Languages : en
Pages : 1135
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Book Description
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.
Author: Shunji Tomatsu
Publisher:
ISBN: 9781536139860
Category : Lysosomal storage diseases
Languages : en
Pages : 0
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Book Description
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.
Author: Nenad Blau
Publisher: Springer Science & Business Media
ISBN: 3540766987
Category : Medical
Languages : en
Pages : 860
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Book Description
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.
Author: Mitchell B. Strominger
Publisher: Elsevier Health Sciences
ISBN: 0323051685
Category : Medical
Languages : en
Pages : 238
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Book Description
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
Author:
Publisher:
ISBN:
Category : Lysosomal storage diseases
Languages : en
Pages : 20
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Book Description
Author: William Nyhan
Publisher: CRC Press
ISBN: 144411459X
Category : Medical
Languages : en
Pages : 801
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Book Description
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 second edition of this highly regarded book, auth
Author: N. Blau
Publisher: Springer Science & Business Media
ISBN: 364255878X
Category : Science
Languages : en
Pages : 732
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Book Description
This second edition of The Physician's Guide provides paediatricians and other physicians with a unique aid to help them select the correct diagnosis from a bewildering array of complex clinical and laboratory data. Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. The guide, which includes a CD-ROM, describes 298 disorders which have been grouped into 35 chapters according to the type of condition. Within each group of disorders, chapters provide tables of pertinent clinical findings as well as reference and pathological values for crucial metabolites. Relevant metabolic pathways and diagnostic flow charts are included. There are three indices to make the book as user-friendly as possible.
