Aicardi Syndrome a.k.a. Callosal Agenesis: Definition, Etiology, Molecular Pathogenesis, Prevalence and more.

Aicardi Syndrome a.k.a. Callosal Agenesis: Definition, Etiology, Molecular Pathogenesis, Prevalence and more. PDF Author: Dr. Hakim. K. Saboowala
Publisher: Dr.Hakim Saboowala
ISBN:
Category : Medical
Languages : en
Pages : 37

Get Book Here

Book Description
Aicardi Syndrome a.k.a. Callosal Agenesis: Definition, Etiology, Molecular Pathogenesis, Prevalence and more. In 1965, a French neurologist, Dr Jean Dennis Aicardi, described 8 children with infantile spasm-in-flexion, total or partial agenesis of the corpus callosum, and variable ocular abnormalities. This clinical scenario, already reported in 1949, was recognized as an entity distinct from congenital infections. An additional 7 patients were described in 1969, and in 1972, Dennis and Bower established the Aicardi syndrome designation. Further patient study demonstrated other less consistent characteristics outside the classic triad of findings. These additional characteristics include: · Abnormal facies, · Cleft lip and palate, · Vertebral body abnormalities, and · Abnormalities of neuronal migration. Most children have a moderate to severe degree of mental retardation, although less severely affected children occasionally are described. An attempt has been made in this Booklet to describe Etiology, Molecular Pathogenesis, Prevalence etc. comprehensively for enthusiastic Medicos along with relevant ILLUSTRATIONS for better understanding. …Dr. H. K. Saboowala. M.B.(Bom) .M.R.S.H.(London)

Aicardi Syndrome a.k.a. Callosal Agenesis: Definition, Etiology, Molecular Pathogenesis, Prevalence and more.

Aicardi Syndrome a.k.a. Callosal Agenesis: Definition, Etiology, Molecular Pathogenesis, Prevalence and more. PDF Author: Dr. Hakim. K. Saboowala
Publisher: Dr.Hakim Saboowala
ISBN:
Category : Medical
Languages : en
Pages : 37

Get Book Here

Book Description
Aicardi Syndrome a.k.a. Callosal Agenesis: Definition, Etiology, Molecular Pathogenesis, Prevalence and more. In 1965, a French neurologist, Dr Jean Dennis Aicardi, described 8 children with infantile spasm-in-flexion, total or partial agenesis of the corpus callosum, and variable ocular abnormalities. This clinical scenario, already reported in 1949, was recognized as an entity distinct from congenital infections. An additional 7 patients were described in 1969, and in 1972, Dennis and Bower established the Aicardi syndrome designation. Further patient study demonstrated other less consistent characteristics outside the classic triad of findings. These additional characteristics include: · Abnormal facies, · Cleft lip and palate, · Vertebral body abnormalities, and · Abnormalities of neuronal migration. Most children have a moderate to severe degree of mental retardation, although less severely affected children occasionally are described. An attempt has been made in this Booklet to describe Etiology, Molecular Pathogenesis, Prevalence etc. comprehensively for enthusiastic Medicos along with relevant ILLUSTRATIONS for better understanding. …Dr. H. K. Saboowala. M.B.(Bom) .M.R.S.H.(London)

Cerebral Palsy

Cerebral Palsy PDF Author: Freeman Miller
Publisher: JHU Press
ISBN: 0801883547
Category : Health & Fitness
Languages : en
Pages : 548

Get Book Here

Book Description
When a child has a health problem, parents want answers. But when a child has cerebral palsy, the answers don't come quickly. A diagnosis of this complex group of chronic conditions affecting movement and coordination is difficult to make and is typically delayed until the child is eighteen months old. Although the condition may be mild or severe, even general predictions about long-term prognosis seldom come before the child's second birthday. Written by a team of experts associated with the Cerebral Palsy Program at the Alfred I. duPont Hospital for Children, this authoritative resource provides parents and families with vital information that can help them cope with uncertainty. Thoroughly updated and revised to incorporate the latest medical advances, the second edition is a comprehensive guide to cerebral palsy. The book is organized into three parts. In the first, the authors describe specific patterns of involvement (hemiplegia, diplegia, quadriplegia), explain the medical and psychosocial implications of these conditions, and tell parents how to be effective advocates for their child. In the second part, the authors provide a wealth of practical advice about caregiving from nutrition to mobility. Part three features an extensive alphabetically arranged encyclopedia that defines and describes medical terms and diagnoses, medical and surgical procedures, and orthopedic and other assistive devices. Also included are lists of resources and recommended reading.

Progressive Brain Disorders in Childhood

Progressive Brain Disorders in Childhood PDF Author: Juan M. Pascual
Publisher: Cambridge University Press
ISBN: 1107042054
Category : Medical
Languages : en
Pages : 507

Get Book Here

Book Description
A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.

Pediatric Neuro-Ophthalmology

Pediatric Neuro-Ophthalmology PDF Author: Michael C. Brodsky
Publisher: Springer Science & Business Media
ISBN: 1461384575
Category : Medical
Languages : en
Pages : 692

Get Book Here

Book Description
Pediatric Neuroophthalmology details the diagnostic criteria, current concepts of pathogenesis, neuroradiological correlates, and clinical management of a large group of neuroophthalmic disorders that present in childhood. Surprisingly distinct from neuroophthalmic disorders afflicting adults, this set of diseases falls between the cracks of most ophthalmology training, and thus, warrants a practical, clinical guide for the practitioner in ophthalmology - the neuroophthalmologist, pediatric ophthalmologist, general ophthalmologist - as well as neurologists and for residents. The authors, leading pediatric ophthalmologists, have taken this difficult subject matter and developed an accessible, user-friendly manual with a detailed approach to the recognition, differential diagnosis, and management of pediatric neuroophthalmologic disorders.

Liver Disease in Children

Liver Disease in Children PDF Author: Frederick J. Suchy
Publisher: Cambridge University Press
ISBN: 1139464035
Category : Medical
Languages : en
Pages : 995

Get Book Here

Book Description
Completely revised new edition of the premier reference on pediatric liver disease. Liver Disease in Children, 3rd Edition provides authoritative coverage of every aspect of liver disease affecting infants, children, and adolescents. The book offers an integrated approach to the science and clinical practice of pediatric hepatology and charts the substantial progress in understanding and treating these diseases. Chapters are written by international experts and address the unique pathophysiology, manifestations, and management of these disorders in the pediatric population. The third edition has been thoroughly updated and features new contributions on liver development, cholestatic and autoimmune disorders, fatty liver disease, and inborn errors of metabolism. With the continued evolution of pediatric hepatology as a discipline, this text remains an essential reference for all physicians involved in the care of children with liver disease.

Clinical Neuroembryology

Clinical Neuroembryology PDF Author: Hans J. ten Donkelaar
Publisher: Springer Science & Business Media
ISBN: 3540346597
Category : Medical
Languages : en
Pages : 544

Get Book Here

Book Description
Progress in developmental neurobiology and advances in (neuro) genetics have been spectacular. The high resolution of modern imaging techniques applicable to developmental disorders of the human brain and spinal cord have created a novel insight into the developmental history of the central nervous system (CNS). This book provides a comprehensive overview of the development of the human CNS in the context of its many developmental disorders. It provides a unique combination of data from human embryology, animal research and developmental neuropathology, and there are more than 400 figures in over a hundred separate illustrations.

The Eye in Pediatric Systemic Disease

The Eye in Pediatric Systemic Disease PDF Author: Alex V. Levin
Publisher: Springer
ISBN: 3319183893
Category : Medical
Languages : en
Pages : 836

Get Book Here

Book Description
​​This book is the first of its kind to describe ocular manifestations of systemic diseases in the pediatric population. Written and edited by experts in areas of pediatric ophthalmology and genetics, this new text covers a multitude of topics in a comprehensive and cataloged fashion. The Eye in Pediatric Systemic Disease is designed as an in-depth and up-to-date reference work that is heavily referenced, thus allowing the reader ready access to the international supporting literature. Everything from ocular manifestations of hematologic disease, child abuse, psychiatric diseases, renal disorders, and vitamin disorders are covered, allowing readers to know what to look for in the eyes of children with a given systemic disorder. The Eye in Pediatric Systemic Disease is written in language that is accessible to ophthalmologists and pediatricians, as well as allied health care professionals.

Niedermeyer's Electroencephalography

Niedermeyer's Electroencephalography PDF Author: Donald L. Schomer
Publisher: Lippincott Williams & Wilkins
ISBN: 1451153155
Category : Medical
Languages : en
Pages : 1308

Get Book Here

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.

Disorders of Voluntary Muscle

Disorders of Voluntary Muscle PDF Author: George Karpati
Publisher: Cambridge University Press
ISBN: 9780521650625
Category : Medical
Languages : en
Pages : 800

Get Book Here

Book Description
Rewritten and redesigned, this remains the one essential text on the diseases of skeletal muscle.

Clinical Embryology

Clinical Embryology PDF Author: Robert Carachi
Publisher: Springer
ISBN: 3319261584
Category : Medical
Languages : en
Pages : 482

Get Book Here

Book Description
This comprehensive atlas is unique in combining information on the embryological development of the human with detailed presentation of the congenital malformations encountered in clinical practice. As a consequence it will not only assist practitioners and trainees in recognizing and evaluating malformations, but also enable them to understand how a malformation has developed and to explain the mystery of congenital malformations to relatives and patients. The book is organized according to anatomic region, with additional chapters on hernias, tumors, lymphogenesis and lymphatic malformations. According to WHO statistics, each year congenital anomalies result in approximately 3.2 million birth defect-related disabilities worldwide. All too often, however, training in embryology is now a neglected area, and medical graduates frequently lack confidence in their knowledge of the field. Clinical Embryology: An Atlas of Congenital Malformations will help to rectify this deficit and to ensure that malformations are comprehended and managed appropriately. It will be of value for postgraduate trainees in pediatric surgery, pediatrics, and neonatology, undergraduate medical students, and general practitioners/family physicians.