Rare Neurodegenerative Disorders - New Insights

Rare Neurodegenerative Disorders - New Insights

Author: Liam Chen

Publisher: BoD – Books on Demand

Published: 2024-09-25

Total Pages: 200

ISBN-13: 0850148057

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Neurodegenerative diseases share the common property of neuronal loss in the higher-order association and limbic cortices or the extrapyramidal and pyramidal motor systems. In addition, oligodendroglia, astrocytes, and microglia have been implicated in fundamental abnormalities of virtually every neurodegenerative disorder. The particular system affected, more importantly the distribution of the pathology, determines the clinical presentation. While the most common dementia and movement disorders, such as Alzheimer’s disease, Lewy body disease, and frontotemporal lobar degeneration with TDP-43 pathology, including amyotrophic lateral sclerosis, have been extensively studied, many less common, even rare neurodegenerative disorders have gained more attention in recent years. This shift in focus is perhaps driven, in part, by the severely underestimated financial costs associated with these diseases, as well as the immense emotional burden they impose on patients and their caregivers. This book presents the most recent developments in rare neurodegenerative disorders. Insights gained from the investigation of pathophysiological mechanisms of these rare disorders may lead to the development of therapeutic strategies for more prevalent neurodegenerative disorders. In addition to highlighting advancements in research, the book discusses the significant challenges faced by researchers and healthcare professionals in diagnosing and treating rare diseases. It emphasizes the critical need for continued funding and support for research, which is essential to improving patient outcomes and advancing our understanding of these complex conditions.


Pediatric Neurology

Pediatric Neurology

Author: James F Bale Jr

Publisher: CRC Press

Published: 2011-12-15

Total Pages: 353

ISBN-13: 1840766026

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Recognizing patterns of disease can be the first step to successful management of the child with a neurological problem; this is emphasized by the authors throughout the book. Their concise, precise account reflects the remarkable recent advances in pediatric neurology and related disciplines, while stressing the fundamentals of clinical examination and history taking in reaching an accurate diagnosis. The book begins with a detailed discussion of neurological examination techniques and the basic formulation of differential diagnoses and management, using neuroradiology, electrophysiology, cerebrospinal fluids, genetic and metabolic testing. The second section of the book follows a problem-based approach, just as diseases present in the real world. It employs practical, symptom- and sign-based strategies for virtually all conditions encountered by the practitioner. The final section on neurological emergencies recognizes that such conditions present first to someone other than a pediatric neurologist. This new color handbook is illustrated throughout by a wealth of top-quality clinical photos and imaging, and is of interest to pediatric neurologists, general pediatricians, primary care physicians and emergency physicians, in training and practice.


Update in Pediatrics

Update in Pediatrics

Author: Shalea Piteau

Publisher: Springer

Published: 2018-04-16

Total Pages: 565

ISBN-13: 3319580272

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This concise and comprehensive volume updates health professionals on recent advances in the field of pediatrics. It includes chapters in every subspecialty of pediatrics, such as critical care, development emergency medicine and genetics. Ranging from traditional disciplines such as infectious disease and cardiology to more current disciplines such as adolescent medicine, metabolics and genetics this is an indispensable guide for the busy clinician who wishes to stay up-to date with latest advances in the field. Through the use of summaries and bullet points, the book conciselly describes the latest recommendations and guidelines in pediatrics and provides a good overview of the available technology for each subspecialty. The team of authors is made up of experienced clinicians and researchers in their respective fields. This book appeals to pediatricians, family doctors, nurses and nurse practitioners, allied health professionals, and health researchers.


Harnessing Grief

Harnessing Grief

Author: Maria J. Kefalas

Publisher: Beacon Press

Published: 2021-01-19

Total Pages: 200

ISBN-13: 0807040266

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The inspiring story of a mother who took unimaginable tragedy and used her grief as a force to do good by transforming the lives of others. When Maria Kefalas’s daughter Calliope was diagnosed with a degenerative, uncurable genetic disease, the last thing Maria expected to discover in herself was a superpower. She and her husband, Pat, were head over heels in love with their youngest daughter, whose spirit, dancing eyes, and appetite for life captured the best of each of them. When they learned that Cal had MLD (metachromatic leukodystrophy), their world was shattered. But as she spent time listening to and learning from Cal, Maria developed the superpower of grief. It made her a fearless warrior for her daughter. And it gave her voice a bell-like clarity—poignant and funny all at once. This superpower of grief also revealed a miracle—not the conventional sort that fuels the prayers of friends and strangers but a realization that, in order to save themselves, Maria and Pat would need to find a way to save others. And so, with their two older children, they set out to raise money so that they, in their son PJ’s words, could “find a cure for Cal’s disease.” They had no way of knowing that a research team in Italy was closing in on an effective gene therapy for MLD. Though the therapy came too late to help Cal, this news would be the start of an unexpected journey that would introduce Maria and her family to world-famous scientists, brilliant doctors, biotech CEOs, a Hall of Fame NFL quarterback, and a wise nun, and it would also involve selling 50 thousand cupcakes. They would travel to the FDA, the NIH, and the halls of Congress in search of a cure that would never save their child. And their lives would become inextricably intertwined with the families of 13 children whose lives would be transformed by the biggest medical breakthrough in a generation. A memoir about heartbreak that is also about joy, Harnessing Grief is both unsparing and generous. Steeped in love, it is a story about possibility.


Pediatric Neurology

Pediatric Neurology

Author: E. Steve Roach, MD

Publisher: Springer Publishing Company

Published: 2021-09-09

Total Pages: 515

ISBN-13: 0826143997

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“This book is highly recommended for those who will engage with pediatric patients as an excellent starting point to learning most clinically relevant management." ---Doody's Review Service, 3 stars Comprehensive and accessible, Pediatric Neurology is the first reference designed for trainees and nonspecialists in search of targeted information on the diagnosis and management of neurologic conditions in children. Providing a broad window on the primary disorders seen in childhood, this book interweaves the expertise of field leaders from top national institutions to concisely distill the foundations of clinical pediatric neurology. Complete with up-to-date disease guidelines and evidence-based treatment recommendations, this book serves as a starting point for physicians and other health professionals who wish to delve into fundamentals of current pediatric neurology practice. Beginning with an overview of the clinical assessment of infants and children, the book features dedicated chapters to all major disorders and conditions likely to be encountered in the pediatric population. Chapters include current information on epidemiology, clinical manifestations, diagnosis, and approaches to management for each condition in addition to tables summarizing key takeaways and detailed illustrations. Using plain language and a clear presentation of information throughout, the book is packed with the clinical wisdom needed for tackling such a complex field. With special emphasis on essential patient care concepts, Pediatric Neurology is the trusted resource for residents, general neurologists, pediatricians, medical students, and other practitioners who care for children and adolescents with neurological disease. Key Features: Introduces the foundations of clinical pediatric neurology Multi-purpose resource for point-of-care use, clinical rotations, or board preparation Organized by disease category to enhance accessibility and retrieval of key information Features chapters written by leading educators and clinicians in the field Incorporates up-to-date disease guidelines, latest FDA-approved drugs, and evidence-based treatment recommendations Purchase includes digital access for use on most mobile devices or computers


Acute Pediatric Neurology

Acute Pediatric Neurology

Author: Thomas Sejersen

Publisher: Springer Science & Business Media

Published: 2013-11-22

Total Pages: 413

ISBN-13: 0857294911

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This book provides recommendations for evaluation and therapy in the area of acute pediatric neurology; these are presented didactically with frequent use of illustrations and algorithms. Chapters in the first part of the book discuss presenting symptoms of acute neurological conditions. The second part of the book covers major areas of acute pediatric neurology and each of these chapters has three key elements: description of presenting symptoms; recommended assessments; and recommended interventions. Acute Pediatric Neurology provides an accessible, clinically focused guide to assist physicians in the emergency ward or intensive care unit in decisions on diagnosis and therapeutic interventions in all major acute pediatric neurological diseases.


Psychological Insights for Understanding COVID-19 and Families, Parents, and Children

Psychological Insights for Understanding COVID-19 and Families, Parents, and Children

Author: Marc H. Bornstein

Publisher: Psychological Insights for Understanding COVID-19

Published: 2020-12-14

Total Pages: 256

ISBN-13: 9780367682989

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With specially commissioned introductions from international experts, the Psychological Insights for Understanding COVID-19 series draws together previously published chapters on key themes in psychological science that engage with people's unprecedented experience of the pandemic. This volume collects chapters that address prominent issues and challenges presented by the SARS-CoV-2 pandemic to families, parents, and children. A new introduction from Marc H. Bornstein reviews how disasters are known to impact families, parents, and children and explores traditional and novel responsibilities of parents and their effects on child growth and development. It examines parenting at this time, detailing consequences for home life and economies that the pandemic has triggered; considers child discipline and abuse during the pandemic; and makes recommendations that will support families in terms of multilevel interventions at family, community, and national and international levels. The selected chapters elucidate key themes including children's worry, stress and parenting, positive parenting programs, barriers which constrain population-level impact of prevention programs, and the importance of culturally adapting evidence-based family intervention programs. Featuring theory and research on key topics germane to the global pandemic, the Psychological Insights for Understanding COVID-19 series offers thought-provoking reading for professionals, students, academics, policy makers, and parents concerned with the psychological consequences of COVID-19 for individuals, families, and society.


Pediatric Neurosurgery for Clinicians

Pediatric Neurosurgery for Clinicians

Author: Georgios Alexiou

Publisher: Springer Nature

Published: 2022-01-17

Total Pages: 861

ISBN-13: 3030805220

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This book presents a detailed overview of a spectrum of pediatric neurosurgical conditions. It features detailed insight into the techniques available for examining abnormalities, hemorrhages and a variety of tumors. Relevant surgical methodologies are described in relation to a clinical problem or disorder, ensuring that the reader can systematically develop their knowledge of how to perform both routine and more-obscure procedures presently utilized to treat these conditions. Pediatric Neurosurgery for Clinicians is a comprehensive guide detailing methodologies for applying a range of surgical techniques based upon a range of clinical questions. Therefore, it is a critical resource for all practicing and trainee physicians who encounter children with disorders affecting their neurological systems in disciplines within neurosurgery, neurology, radiology, oncology and pathology.