A tiny mutation on the X chromosome can shape a family's history. Passed down from a "carrier" parent to a child, fragile X syndrome is the most common inherited cause of intellectual disability and autism. Beyond that-and a rarity among genetic disorders-some fragile X carriers not only transmit the mutation but also experience related conditions themselves. In such cases, carriers can have tremors, infertility, and psychiatric disorders that complicate raising children with fragile X syndrome-and all too often, they suffer in silence. The Carriers investigates this common but still little-known genetic condition and its life-altering consequences. Anne Skomorowsky reveals how this disorder afflicts families across generations, telling the stories of the mothers and grandparents of fragile X patients and considering how genes interact with family dynamics. She interweaves the personal narratives and family histories of the people affected by fragile X disorders with clear and accessible explanations of the science behind them. Skomorowsky unpacks the latest research on the fragile X mutation and explores the history of its discovery. She highlights the roles of women as carriers, caregivers, and researchers who have made astonishing scientific breakthroughs over the last three decades. The Carriers is an essential book for fragile X families, including those just learning they are carriers, and for all readers interested in the complexities of heredity, the ethical dilemmas of genetic medicine, and the relationship between genes and personality.

Destined to become every regulatory director's essential desktop companion

rofessionals working to submit major documents to the Food and Drug Administration (FDA) are guaranteed to encounter numerous unexpected and daunting hurdles. Guidebook for Drug Regulatory Submissions offers a readable and clearly written road map for effective submission of documents for required regulatory reviews during drug development.

Demystifying this complex, high-stakes process, author and nationally recognized drug regulation expert Sandy Weinberg presents professionals with authoritative tips, tools, and advice including suggestions for preparation, checklists for submission, an FDA evaluation tool for review, and copies of relevant FDA guidelines.

As well, vital information is provided on the most common types of submissions, including:

Meeting Requests

Orphan Drug Applications

Investigatory New Drug Applications (INDAs)

New Drug Applications (NDAs)

505(b)2 NDAs

Abbreviated New Drug Applications (ANDAs)

Annual Report

This reference also explores the pressures affecting the industry and the general public, as well as how these pressures will change the general nature and specific aspects of the submissions process over the near future. In addition, retired Canadian trade consul and regulatory consultant Carl Rockburne guest-authors a chapter comparing the FDA process to the four other major regulatory environments of Canada, the European Union, Japan, and Australia.

Guidebook for Drug Regulatory Submissions is more than a useful guide--it is an essential tool to be kept on the desk of every regulatory director, submissions manager, vice president of Regulatory Affairs, and Food and Drug Administration reviewer responsible for the process of drug regulatory submissions.

This is an up to date book for the busy medical teacher, suitable for all grades of teacher experience and all clinical specialties. The chapters cover aspects of teaching from preparation, basic teaching skills, to the use of teaching resources, evaluation, assessment and curriculum planning. Each fully referenced chapter provides practical suggestions for busy clinicians, and easy to photocopy resources to enable teachers to put ideas into practice. The book supports the practical advice with the key evidence and theories underlying current medical education, allowing it to be used for both last minute planning as well as acting as a carefully constructed introduction to teaching medical undergraduates in the hospital or the community.

Although every day we read news reports linking health problems to diet and lifestyle, there remains a dearth of books on the topic that consider obesity from a variety of standpoints that include medical, personal, financial, and related considerations. The Obesity Reality discusses these viewpoints to explain how and why the problem exists both in the United States and around the world, and in men, women, children. More than a billion people are overweight and that number is expected to increase substantially over the next decade. How can we live past 90 while being obese? How can we remain healthy until our last breath? During the last decade, doctors have been successfully applying medical principles to the search for an obesity cure. But there is no magic medication, no vaccine that can head off the obesity epidemic as sweeps across the planet. Dr. Ali discusses the realities of obesity and its repercussions, which include poor health, high medical costs, restrictions on lifestyle and activities, and more. He shows how we can address obesity, starting in childhood, to prevent it from getting worse, both on a personal and on a societal level, and how we can reverse its effects through proper diet, exercise, and lifestyle choices as well as medical procedures and medications.

Nothing is more perplexing to the clinician new to device therapy than having to deal with cardiac electrocardiograms from a device patient. Pacemakers and other implantable cardiac rhythm management devices leave their "imprint" on ECGs and can significantly change what clinicians see - or expect to see. Evaluating paced ECGs can be challenging, yet nowhere is it taught in any sort of comprehensive manner.

Designed specifically for clinicians new to device therapy, "The Nuts and Bolts of Interpreting Paced ECGs and EGMs" offers practical, reliable and objective information on paced cardiac electrograms. Written in a lively, intelligent and easy to navigate style, emphasizing real-life clinical practice and practical tips, this book includes illustrated paced ECGs by skilled artists to help minimize "fuzzy" lines and emphasize key points. Each chapter concludes with a checklist of key points from each subject ("Nuts and Bolts").

Now in its third edition, ''Counseling in Communication Disorders: A Wellness Perspective'' continues to be an essential and admired text for counseling related courses in graduate speech-language pathology and audiology programs. The counseling skills introduced in this book are based on the model of positive psychology, a rapidly growing branch of psychology that focuses on mental health and well-being and how to achieve and maintain these states. By incorporating the key elements of positive psychology into clinical practice, clinicians can more effectively help patients live productively and successfully with their communication disorders. The authors offer examples, exercises, and specific techniques for working with individuals and their families across the spectrum of communication disorders, from infancy through end-of-life needs. In addition, they also feature one-on-one activities and model workshop examples for use in teaching counseling strategies to groups or classes. New to the Third Edition: *Expanded information on issues concerning cultural diversity, especially in regard to children and their families *Expanded strategies for recognizing and growing strengths in family dynamics including early intervention. *Extended considerations for counseling individuals and families when deterioration of abilities is expected. *More in-depth information on the unique problems of persons with mild cognitive impairment, primary progressive aphasia, and chronic traumatic encephalopathy. *Updates on findings and issues in Positive Psychology *Information introducing clinicians and students to Posttraumatic Growth and its relevance to the field *Updated counseling literature throughout With its updates and additions, ''Counseling in Communication Disorders: A Wellness Perspective, Third Edition'', is destined to remain a popular resource and teaching tool for developing speech-language pathologists and audiologists.

A student-friendly resource on stuttering and related fluency disorders by a who's who of global experts Stuttering and Related Disorders of Fluency, Fourth Edition honors the philosophy that discoveries of the past are the bedrock of the present and the inspiration for future explorations—in this context—the nature and treatment of stuttering. Initially developed over 30 years ago, the first two editions were edited by the late Richard F. Curlee and the third edition was co-edited by Richard F. Curlee and Edward G. Conture. The latest edition, co-edited by Patricia M. Zebrowski, Julie D. Anderson, and Edward G. Conture, brings together contemporary insights and a multinational perspective from 44 world-class academicians, clinicians, and researchers in the field of stuttering and related disorders. The book is organized into six sections and 17 chapters, with the first section describing basic facts and theories. The second section covers genetic, neural, linguistic, cognitive, and physiological factors. The third section features three dedicated chapters on the diagnosis of preschool-age children, school-age children, and adolescents and adults. The fourth section discusses treatment guidelines with three chapters organized by the same age demographics, while the fifth section covers language and phonological, bilingual and multicultural, and pharmacological considerations for treatment. The sixth, and last, section provides guidance on cluttering and acquired stuttering—from causes and symptoms to diagnosis and treatment. Key Highlights Up-to-date, reader-friendly text is ideal for students with no or limited background or experience in the nature and treatment of stuttering and related fluency disorders Comprehensive content covering all relevant aspects of stuttering in diverse populations across the lifespan, including etiology, development, diagnosis, and treatment Contributions from a diverse group of top scholars and practitioners from the United States, Canada, Western Europe, and Australia This text is essential reading for upper-class undergraduates and early-stage graduate students in communication sciences and disorders. It also provides an invaluable classroom tool for instructors teaching basic courses on this subject and is a helpful sourcebook for researchers investigating stuttering and related fluency disorders. This print book includes complimentary access to a digital copy on https://medone.thieme.com.

The quintessential clinical guide for audiologists on tinnitus and hyperacusis patient management Since publication of the first edition in 2005, new developments have impacted the treatment paradigm for tinnitus, such as sensory meditation and mindfulness. Tinnitus Treatment: Clinical Protocols, Second Edition, by world-renowned tinnitus experts and distinguished authors Richard S. Tyler and Ann Perreau provides comprehensive background information, up-to-date strategies, essential tools, and online supplementary materials grounded in years of clinical experience and research. It fills a gap in graduate education and available materials to empower audiologists to effectively treat patients suffering from bothersome to severely debilitating symptoms associated with tinnitus or hyperacusis. The textbook includes 15 chapters, starting with three chapters on tinnitus models, treatment approaches, and self-treatment options. The next three chapters summarize counseling approaches for audiologists and psychologists, including introduction of the three-track psychological counseling program for managing tinnitus. Chapters 7 and 8 discuss the use of hearing aids in patients with hearing loss-related tinnitus and sound therapy using wearable devices. Chapter 9 covers smartphone apps for tinnitus assessment, management, and education and wellness, including discussion of limitations. The last six chapters provide guidance on tinnitus management topics including treating children, implementing outcome measures, hyperacusis treatment, and future directions. Key Features New relaxation/distraction tactics including meditation, mindfulness, guided imagery, biofeedback, progressive muscle relaxation, art and music therapy, exercise, and exploration of new hobbies Treatment guidance for patients with tinnitus associated with Meniere's disease, vestibular schwannoma, unilateral sudden sensorineural hearing loss, and middle ear myoclonus Discussion and research-based evidence covering Internet-delivered self-help treatment strategies New supplemental videos, brochures, handouts, questionnaires, and datasheets enhance knowledge, scope of practice, and incorporation of effective approaches into clinical practice This is a must-have resource for every audiology student and advanced courses, as well as essential reading for all audiologists who feel underprepared in managing tinnitus and/or hyperacusis. This book includes complimentary access to a digital copy on https://medone.thieme.com.

Durch die jungste AEnderung der Approbationsordnung fur Apotheker hat die Bedeutung der Biopharmazie in Forschung und Lehre weiter zugenommen. In diesem vollstandig neu konzipierten Lehr- und Handbuch behandeln renommierte Autoren samtliche Themen der Biopharmazie entsprechend den neuen Anforderungen. Aktuell und ubersichtlich, richtet sich das Grundlagenwerk an Pharmazeuten in Wissenschaft und Industrie, aber auch an Studenten, die besonders von den integrierten UEbungsteilen profitieren. Die Hauptkapitel zu den Grundlagen der Physiologie und Pharmakokinetik werden erganzt durch Abschnitte zu Anwendungen der Biopharmazie in der Arzneimittelentwicklung und in der Klinik. Zu topaktuellen Themen wie Prodrugs und Drug Targeting referiert der Band den Stand der Forschung. Fur Praktiker halt er ausserdem ein Kapitel zu Computerprogrammen in der Biopharmazie bereit. Auch Studenten hat das Buch eine Menge zu bieten: Zahlreiche UEbungsaufgaben sowie Verstandnisfragen mit den dazugehoerigen Antworten erlauben eine effektive Lernkontrolle und damit eine optimale Prufungsvorbereitung. Der Band folgt der Terminologie der Europaischen Pharmakopoee 2001. Das ausfuhrliche Glossar enthalt mehr als 100 Begriffe. Ausserdem werden uber 130 pharmakokinetische Abkurzungen und Symbole erklart, so dass das Buch auch als Nachschlagewerk genutzt werden kann. Das Autorenteam hat sich einiges vorgenommen: Ihr Buch soll das Referenzwerk der Biopharmazie werden, fur Studenten und Dozenten der Pharmazie, Pharmazeuten und Pharmakologen ebenso wie fur Praktiker in der Pharmaindustrie.

Fully updated guide to the theory and practice of Dr. Vodder's Manual Lymph Drainage Written by the world's leading authorities on Dr. Emil Vodder's techniques for manual lymph drainage (MLD), this lavishly illustrated guide provides step-by-step descriptions of how to massage the lymph vessels to stimulate smooth lymphatic flow. A concise text describing the basic anatomy and physiology of the circulatory and lymphatic systems is supplemented by full-color photographs and revelatory schematic drawings. The authors discuss indications and contraindications for the treatment techniques, based on the various types of swelling caused by lymphedema, as well as the ways in which Dr. Vodder's method affects different regions of the body. Key Features: The latest information on complete decongestive therapy (CDT), including coverage of compression therapy, taping, respiratory treatment, and other complementary methods More than 200 color photographs demonstrate the therapist's application of manual pressure and movement patterns Each chapter includes numerous practical tips and sufficient space for personal notes 56 review questions enable self-study Dr. Vodder's Manual Lymph Drainage: A Practical Guide is a comprehensive, one-stop reference for students, therapists, and practitioners of lymphology, manual medicine, or physical therapy. This book includes complimentary access to a digital copy on https://medone.thieme.com.

Toxic. Unexplainable. Deadly. This is the reality of living with a mental illness. When your mind becomes your own killer, death seems like a sweet release. This gripping and heart-wrenching story reveals the brutal reality of life with an eating disorder. Stephanie Shott is a bright and life-loving young woman who has had to deal with all the horror and difficulty of anorexia. In this moving and inspirational book, ‘Just Keep Swimming’, Stephanie bravely and boldly opens herself up to the reader and tells her story. This harrowing story of dealing with anorexia and beating it is engrossing, disturbing and utterly inspirational.