The journey of living with Pyruvate Dehydrogenase Deficiency (PDD) is complex and often isolating. Those affected by this rare, hereditary metabolic disorder face unique challenges, not only medically but emotionally and psychologically. As awareness grows about the impact of chronic and genetic conditions on mental health, it becomes clear that support must extend beyond physical treatment to address the holistic needs of patients and their families. This book seeks to bridge that gap by providing a comprehensive guide to managing PDD through the lens of Cognitive Behavioral Therapy (CBT). Drawing from the latest research in genetics, epigenetics, and behavioral therapy, this book aims to equip readers with knowledge and practical tools for coping with the daily challenges of PDD. The first sections introduce the fundamental biological concepts relevant to understanding PDD, including genetics, hereditary diseases, and congenital conditions. Understanding these aspects can empower individuals, helping them feel more informed and involved in their health journey. The second half of this book focuses on actionable CBT strategies designed to support mental well-being. CBT is a well-established therapeutic approach that has shown significant benefits in managing emotional distress, anxiety, and depression—common challenges among those with chronic illnesses. Through personalized therapeutic approaches and practical tools, this book offers readers a range of coping strategies to manage the psychological impact of PDD. From learning to navigate medical bureaucracy to addressing concerns about social relationships and personal identity, these strategies are intended to foster resilience, self-compassion, and an adaptive mindset. This book also includes guidance for clinicians and caregivers. Understanding the psychological needs of individuals with PDD can help caregivers and healthcare providers offer more empathetic and effective support. The included CBT tools have been selected for their applicability to common struggles faced by individuals with genetic conditions, such as grief, fear of stigma, and managing relationships in the face of chronic health concerns. Psychological Support by Cognitive Behavioral Therapy for Pyruvate Dehydrogenase Deficiency was inspired by the strength and resilience of individuals living with genetic conditions. It is our hope that this book serves as a source of comfort, empowerment, and practical help to anyone affected by PDD. Whether you are a patient, a family member, or a healthcare provider, this resource is dedicated to improving the quality of life for all those touched by this condition.

Addressing the major advances in biomedical, psychological, social, and environmental sciences over the past decade, Developmental-Behavioral Pediatrics, 5th Edition, remains the reference of choice for professionals in a wide range of fields, including medicine and health care, education, social service, advocacy, and public policy. This foundational, pioneering resource emphasizes children's assets and liabilities, not just categorical labels. Comprehensive in scope, it offers information and guidance on normal development and behavior, psychosocial, and biologic influences on development, developmental disorders, neurodevelopmental disabilities, and mental health conditions. It also discusses tools and strategies for diagnosis and management, including new assessments that can be used in telehealth encounters. - Offers a highly practical focus, emphasizing clinical approaches to evaluation, counseling, treatment, and ongoing care. - Provides new or expanded information on theoretical foundations of human development and behavior; trauma, adverse childhood events, and resilience across the life span; mechanisms of genetic, epigenetic, and neurological conditions; and principles of psychological assessment, including a broad array of evaluation approaches. - Discusses management and treatment for developmental and behavioral conditions, spanning common factors, cognitive behavior therapies, rehabilitative services, integrative medicine, and psychopharmacology. - Contains up-to-date chapters on celebrating socio-cultural diversity and addressing racism and bias, acute stress and post-traumatic stress disorder in youth, sexuality and variation, and alternatives to restrictive guardianship. - Begins each chapter with a colorful vignette that demonstrates the importance of the human dimensions of developmental-behavioral pediatrics. - Offers viewpoints from an interdisciplinary team of editors and contributors, representing developmental-behavioral pediatrics, general pediatrics, psychiatry, psychology, occupational and physical therapy, speech-language pathology, and law. - Provides the latest drug information in the updated and revised chapters on psychopharmacology. - Includes key points boxes, tables, pictures, and diagrams to clarify and enhance the text.

A fully updated and authoritative neurology resource The Queen Square Textbook has established itself as a favourite companion to clinical neurosciences training and teaching around the world, whilst retaining its role as an invaluable reference guide for physicians and other healthcare professionals working in neurology, general medicine and related specialties. The book continues to reflect the core values essential to the practice of clinical neurology in the 21st-century. The third edition has been extensively revised and updated to take account of the rapid pace of progress in the neurosciences and patient care. Contemporary neurology has been changed by the COVID-19 pandemic, the climate emergency and the growing inequalities in healthcare resources. The new edition has been extensively revised to reflect these challenges and affords a greater emphasis on management and rehabilitation whilst continuing to reflect the coherence of a text produced from a single, closely-knit, centre of excellence. Highlights of the new edition include: An updated approach to clinical examination, decision-making and diagnosis New developments in neuroimmunology, pathology and genetics Reflections on the history of our specialty, how the 'neurology method' has evolved and why this remains relevant to contemporary practice. Neuropalliative care Ethical and legal issues in clinical neurology The future direction of research in the neuroscience and clinical neurology The latest developments in the understanding and management of stroke, movement disorders, epilepsy, cognitive impairment, multiple sclerosis, infections, myelopathy, anterior horn cell disease, disorders of nerve and muscle, neuro-oncology, neurological disorders of hearing, balance and vision and the neurological care of critical illness, sleep, neuropsychiatry, pain, autonomic and urological disorders. An emphasis on treatment and rehabilitation of the person with a neurological disease The new edition marks a significant transition to reflect contemporary neurological practice during uncertain times. It mirrors the enormous changes in investigation, diagnosis and treatment that have occurred in recent years whilst maintaining the underlying principle that we do not treat diagnoses but, rather, we care for people affected by neurological disease.

Textbook of Critical Care, by Drs. Jean-Louis Vincent, Edward Abraham, Frederick A. Moore, Patrick Kochanek, and Mitchell P. Fink, remains your best source on effective management of critically ill patients. This trusted reference - acclaimed for its success in bridging the gap between medical and surgical critical care - now features an even stronger focus on patient outcomes, equipping you with the proven, evidence-based guidance you need to successfully overcome a full range of practice challenges. Inside, you’ll find totally updated coverage of vital topics, such as coagulation and apoptosis in certain critical care illnesses, such as acute lung injury and adult respiratory distress syndrome; sepsis and other serious infectious diseases; specific organ dysfunction and failure; and many other vital topics. At www.expertconsult.com you can access the complete contents of the book online, rapidly searchable, with regular updates plus new videos that demonstrate how to perform key critical care procedures. The result is an even more indispensable reference for every ICU. Access the complete contents of the book online at www.expertconsult.com, rapidly searchable, and stay current for years to come with regular online updates. Practice with confidence by consulting with a "who’s who" of global experts on every facet of critical care medicine. Implement today’s most promising, evidence-based care strategies with an enhanced focus on patient outcomes. Effectively apply the latest techniques and approaches with totally updated coverage of the importance of coagulation and apoptosis in certain critical care illnesses, such as acute lung injury and adult respiratory distress syndrome; sepsis and other serious infectious diseases; specific organ dysfunction and failure; and many other vital topics. See how to perform key critical care procedures by watching a wealth of new videos online. Focus on the practical guidance you need with the aid of a new, more templated format in which basic science content has been integrated within clinical chapters, and all procedural content has been streamlined for online presentation and paired with videos.

For fifty years, experienced clinicians and physicians in training have relied on Swaiman's cornerstone text as their #1 source for authoritative guidance in pediatric neurology. Swaiman's Pediatric Neurology: Principles and Practice, 7th Edition, continues this tradition of excellence under the expert editorial direction of Drs. Stephen Ashwal and Phillip L. Pearl, along with a team of key leaders in the field who serve as associate and section editors in their areas of expertise. Thorough revisions—including new chapters, new videos, new editors, and expanded content—bring you up to date with this dynamic field. - Contains new sections on global child neurology and environment and brain development and a greatly expanded section on neurogenetics, in addition to new chapters on autoimmune epilepsies, immune-mediated movement disorders, and more. - Offers expanded online content, including additional figures, tables, and text, as well as new personal introductory videos by many chapter authors. - Covers new, emerging, or controversial topics such as COVID-19, teleneurology, environment and brain development, immune-mediated disorders of the nervous system, functional neurological disorders in children, nonverbal learning disorders, and the pharmacological and future genetic treatment of neurodevelopmental disabilities. - Provides authoritative coverage of perinatal acquired and congenital disorders, neurodevelopmental disabilities, extensive sections on pediatric epilepsy and movement disorders, nonepileptiform paroxysmal disorders, and disorders of sleep. - Features nearly 3,000 line drawings, photographs, tables, and boxes that highlight the text, clarify key concepts, and make it easy to find information quickly.