Aicardi Syndrome
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Aicardi Syndrome A K A Callosal Agenesis Definition Etiology Molecular Pathogenesis Prevalence And More
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Author : Dr. Hakim. K. Saboowala
language : en
Publisher: Dr.Hakim Saboowala
Release Date :
Aicardi Syndrome A K A Callosal Agenesis Definition Etiology Molecular Pathogenesis Prevalence And More written by Dr. Hakim. K. Saboowala and has been published by Dr.Hakim Saboowala this book supported file pdf, txt, epub, kindle and other format this book has been release on with Medical categories.
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)
Syndromes Rapid Recognition And Perioperative Implications
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Author : Bruno Bissonnette
language : en
Publisher: McGraw-Hill Education / Medical
Release Date : 2006-08-10
Syndromes Rapid Recognition And Perioperative Implications written by Bruno Bissonnette and has been published by McGraw-Hill Education / Medical this book supported file pdf, txt, epub, kindle and other format this book has been release on 2006-08-10 with Medical categories.
Essential medical facts on over 2,000 genetic syndromes. Organized alphabetically, this book provides comprehensive medical coverage for each syndrome, from genetic basis to manifestations to related medical considerations.
Callosal Agenesis
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Author : Maryse Lassone
language : en
Publisher: Springer Science & Business Media
Release Date : 2012-12-06
Callosal Agenesis written by Maryse Lassone and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-12-06 with Medical categories.
This book is devoted to the description of agenesis of the corpus callosum, a congenital malformation of midline structures in the brain that may be regarded as a natural model of the "split-brain. " First reported by Rei! in 1812, this anomaly has since been described by several investigators. Interest in this malformation was revived in the 1970s by studies of interhemispheric transfer in Bogen and Vogel's commissurotomized patients and the subsequent findings by Sperry that acallosal patients were devoid of the typical disconnection deficits found in patients with surgical transection of the corpus callosum. Since this seminal work, the bulk of neuropsychological research on callosal agenesis has focused on the particulars of interhemispheric transfer and integration. An ever-growing literature has emerged on the subject, attempting to specify the extent and limits of neural plasticity in a nervous system that has evolved in the absence of the most important interhemispheric pathway. Whilst callosal agenesis proves to be an excellent model of cerebral plasticity, it has to be pointed out that this anomaly is often associated with other malformations and neurological diseases that may result in different degrees of mental retardation or other cognitive and sensorimotor deficits. In this context, neurological research on callosal agenesis has concentrated on the description of various syndromes associated with this pathology as well as on the attempt to specify its neurobehavioral manifestations.
Pediatric Neurology Part Iii
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Author : Yanick J. Crow
language : en
Publisher: Elsevier Inc. Chapters
Release Date : 2013-04-24
Pediatric Neurology Part Iii written by Yanick J. Crow and has been published by Elsevier Inc. Chapters this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-04-24 with Medical categories.
Aicardi-Goutières syndrome (AGS) is a genetically determined encephalopathy demonstrating phenotypic overlap both with the sequelae of congenital infection and with systemic lupus erythematosus (SLE). Recent molecular advances have revealed that AGS can be caused by mutations in any one of five genes, most commonly on a recessive basis but occasionally as a dominant trait. Like AGS, SLE is associated with a perturbation of type I interferon metabolism. Interestingly then, heterozygous mutations in the AGS1 gene TREX1, and the AGS5 gene SAMHD1, underlie a cutaneous subtype of SLE called familial chilblain lupus, and mutations in TREX1 represent the single most common cause of monogenic SLE identified to date. Evidence is emerging to show that the nucleases defective in AGS are involved in removing endogenously produced nucleic acid species, and that a failure of this removal results in activation of the immune system. This hypothesis explains the phenotypic overlap of AGS with congenital infection and some aspects of SLE, where an equivalent type I interferon-mediated innate immune response is triggered by viral and self nucleic acids respectively. These studies beg urgent questions about the development and use of immunosuppressive therapies in AGS and related phenotypes.
M Langes Aicardi Jean
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Author : Alexis Arzimanoglou
language : en
Publisher: John Libbey Eurotext
Release Date : 1996
M Langes Aicardi Jean written by Alexis Arzimanoglou and has been published by John Libbey Eurotext this book supported file pdf, txt, epub, kindle and other format this book has been release on 1996 with Medical categories.
Jean Aicardi Days, October 1995. These scientific days were organised in tribute to Jean Aicardi, the internationally recognised neuropaediatrician. His friends and colleagues, eminent specialists from all over the world, exchanged their experiences and latest data on infantile epilepsy, with particular emphasis on aspects including migraine and epilepsy, the environmental determinants of cerebral development and cognitive disorders.
30 Day Journal Tracker
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Author : Health Formation
language : en
Publisher:
Release Date : 2019-12-16
30 Day Journal Tracker written by Health Formation and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-12-16 with categories.
After relentlessly studying the teachings of legendary healers, such as Dr Arnold Ehret and Dr Robert Morse, we set out on a journey of healing ourselves and reversing our very own conditions. Within our group, we were suffering from a range of diverse diseases and conditions, including Heart Disease, Kidney Disease, Diabetes, a variety of Autoimmune Diseases and Leaky Gut. During our healing journeys, we formed a journal that we would use on a daily basis, and this helped us to incorporate all of the lessons and tips that we had learnt and refined along the way - in short, it acted as a check list. It was important to us to not miss out on any knowledge and practices that had served us well. This journal is designed to guide and support you through your own journey with the core healing protocols included within its theme. One of the key conclusions that we reached through our individual journeys was that whether you are a sufferer of Aicardi Syndrome, or any other condition, the same protocol that we used applies. However, dependant on the severity of your Aicardi Syndrome, you may need to follow the protocols for longer, using specific herbs in order to achieve positive results, but you can make your own adjustments as you learn more. The great news is that all information and resources are readily available for personal study and application. Dr Arnold Ehret's books can be downloaded freely if you search for "arnold ehret books pdf". Visit rawfigs.com for Dr Robert Morse videos which can be searched through by keywords via the search bar. With this journal and your newly acquired knowledge, we trust that you will also soon start to experience the positive results that we did, along with the many others that send us regular positive feedback. We wish you all the best. The Health Formation Team
Journal Tracker
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Author : Health Formation
language : en
Publisher:
Release Date : 2019-12-18
Journal Tracker written by Health Formation and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-12-18 with categories.
Suffering from a variety of conditions, we formed a small group of individuals that were also struggling, and we helped each other remain accountable as we healed ourselves naturally. How did we do this? We researched tirelessly and tried multiple different methods until we finally started seeing results through the use of protocols taught by legendary healers, Dr Arnold Ehret and Dr Robert Morse. Note: all information and resources are readily available for personal study and application, online. Dr Arnold Ehret's books can be downloaded freely if you search for "arnold ehret books pdf". Visit rawfigs.com for Dr Robert Morse videos which can be searched through by keywords via the search bar. Familiarise yourself with their teachings and protocols and move forward as you put this journal to use. Throughout our healing journeys, we found the process of recording our progress to be of great help. Our journals also helped us in note-taking of anything that we found useful, along with any tips and hacks that we came across. We felt inspired to create a personalised 30 day journal for your condition encouraging you to track your thoughts, feelings, progress and knowledge as you enjoy success and fulfillment on your journey of self healing. One of the key conclusions that we reached through our individual journeys was that whether you are a sufferer of Aicardi Syndrome, or any other condition, the same protocol that we used to heal will apply to you. However, dependant on the severity and time endured, you may need to follow the protocols for longer, using specific herbs (and glandulars) in order to achieve positive results, but you can make your own adjustments as you learn more. Equipped with the information found on this page, we trust that you will benefit greatly from this journal and reach your goals. Use it to keep yourself accountable, use it for noting down useful information that you discover, whilst recording the raw vegan foods (fruit, vegetables, herbs) that you eat and juice. Record daily routines such as time spent fasting, time spent eating, water consumed, sauna or lymph moving exercises performed, and anything else that you find to be supportive. You will never miss a moment now and remain focused on your goals. We wish you all the best. The Health Formation Team
Inherited Chorioretinal Dystrophies
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Author : Bernard Puech
language : en
Publisher: Springer
Release Date : 2014-07-19
Inherited Chorioretinal Dystrophies written by Bernard Puech and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-07-19 with Medical categories.
This lavishly illustrated atlas provides indispensable information to clinicians, geneticists and visual scientists working with inherited retinal diseases. It is filled with high-quality images, up-to-date genetic information and comprehensive electrophysiology. The data for each individual disorder have been summarised in an accessible, reader-friendly format for easy reference. The illustrations include colour fundus photographs, fluorescein angiograms, OCT scans, electrophysiological studies and pedigrees. The editors and authors are well-known experts in the field and have drawn upon their extensive experience to produce this unique atlas.
Pediatric Neuro Ophthalmology
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Author : Michael C. Brodsky
language : en
Publisher: Springer Science & Business Media
Release Date : 2012-12-06
Pediatric Neuro Ophthalmology written by Michael C. Brodsky and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-12-06 with Medical categories.
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.
Dictionary Of Syndromes And Inherited Disorders
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Author : Patricia Gilbert
language : en
Publisher:
Release Date : 2000
Dictionary Of Syndromes And Inherited Disorders written by Patricia Gilbert and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2000 with Medical categories.
Soon to be published in its Third Edition, this now established reference work has been expanded to include additional syndromes and further information to aid the reader in contacting self-help groups. Dictionary of Syndromes and Inherited Disorders provides a practical reference for those with a syndrome or inherited disorder and for their caregivers. It describes the disorders and problems of both child and adult, and considers the day-to-day management of these conditions. It is written in non-technical language, so as to be comprehensible for a general audience, but with enough detail for the medical and nursing professions. The text is well indexed and has an extensive glossary.