Download or read book Turner Syndrome written by Patricia Y. Fechner and published by Springer Nature. This book was released on 2020-03-20 with total page 280 pages. Available in PDF, EPUB and Kindle. Book excerpt: Comprehensive and practical, this is a unique and multidisciplinary resource for the clinician caring for the girl or woman with Turner syndrome. Although approximately one in 2000 women are affected, many have not been diagnosed; as the advent of prenatal genetic testing becomes more prevalent, the diagnosis of Turner syndrome will be made much more frequently. There is therefore a greater need for this single source that provides the clinician with the information required to care for this multifaceted disorder. The opening chapters discuss the biology, genetics and current standard of care for females with Turner syndrome in order to provide proper background and context for the remaining chapters. The main section of the book, taking a body system approach, is comprised of chapters written by an expert in his or her subspecialty and will discuss pathophysiology and diagnosis, as well as therapeutic options. Reproductive, cardiac, renal, endocrine, neurologic, musculoskeletal, and sensory issues and symptoms associated with Turner syndrome are all covered in detail. Additional chapters describe current resources available to both caregiver and patient as well as future directions for research and management. Currently, there are no similar books on the market that take an all-inclusive, multidisciplinary approach in the care of individuals with Turner syndrome. As such, this book should be the standard of care for management of this challenging and multifaceted condition.

Download or read book Aneurysms Osteoarthritis Syndrome written by Denise van der Linde and published by Elsevier. This book was released on 2016-10-03 with total page 180 pages. Available in PDF, EPUB and Kindle. Book excerpt: Aneurysms-Osteoarthritis Syndrome: SMAD3 Gene Mutations is a first-of-its-kind compilation of the genetic discovery, research, and care associated with AOS. With the field of genetically triggered aortopathies growing, this important reference will compile the newest discoveries in this field, allowing cardiologists, cardio-thoracic surgeons, clinical geneticists, vascular surgeons, orthopedic surgeons, and researchers to gain the knowledge they need without having to gather the data from various sources. Coverage includes genotype and phenotype correlations, the functional role of SMAD3, and insights into the role of TGFbeta signaling in aortic disease. The book will increase knowledge about AOS, providing awareness and better patient care for this aggressive disease. - Covers Aneurysms-Osteoarthritis Syndrome, from genetic discovery to patient care - Contains clinical management guidance on optimal cardiovascular treatments and surgery - Explains the autosomal dominant syndromes caused by mutations in the SMAD3 gene - Identifies the key features of this syndrome, including arterial aneurysms and tortuosity, early onset arthritis, and mild craniofacial features

Download or read book Cassidy and Allanson s Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.

Download or read book The Silent Syndrome written by Cheryl Jost and published by Xlibris Corporation. This book was released on 2018-02-16 with total page 64 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is a heartwarming story of one TS womans journey of agony and pain, acceptance, and unconditional love. Join her as she educates you about TS and tells you about her unbelievable voyage across the world to finally find her two amazing children and the relentless dedication to achieve the family she and her husband always dreamed of. This voyage created a deep passion to support other TS families and allowed her to meet some incredible people along the way. This book will describe how her diagnosis of TS allowed her to educate the public about this rare chromosomal disorder with accurate information, break down TS stereotypes/misconceptions, and bring hope and support to newly diagnosed TS families. She has been fortunate to do this in many ways and continues doing so today on a national level through the Turner Syndrome Society of the US. (TSSUS). This is an opportunity to share with TS individuals and their family and friends her story of living with TS and the true and honest feelings revealed through different life experiences and its affects. You wont want to miss this intriguing story of an amazing roller-coaster ride of discrimination, three emotional IVF attempts, the miracle of how she and her husband found their two adoptions, and the awesome work being done today to help TS individuals lead a normal and productive life. This book will also offer a wide range of medical and support resources and offer hope and inspiration to newly diagnosed families who think they are out there all alone raising their TS daughter.

Download or read book Transition of Care written by M. Polak and published by Karger Medical and Scientific Publishers. This book was released on 2018-06-11 with total page 170 pages. Available in PDF, EPUB and Kindle. Book excerpt: Pediatricians face many questions and challenges during patients’ transition from childhood to adulthood. Chronic diseases justify long-term medical, psychological, educational, and social management. The establishment of networks with adult endocrinologists is, therefore, very important to achieving optimal conditions for a successful transition period. In this book, leading experts discuss major public health issues such as diabetes and obesity. They also review genetic diseases, including Turner syndrome and congenital adrenal hyperplasia. All clinical cases are presented in a focused way to highlight any issues which might be discussed by the doctor with patients and family. Psychological approaches are debated as are proposals for defining specific tools to encourage autonomy during this life period. This book is a valuable tool and will be helpful in answering many questions for endocrinologists, adult and pediatric, dedicated to the long-term management of patients with chronic diseases.

Download or read book What Stars Are Made Of written by Sarah Allen and published by Farrar, Straus and Giroux (BYR). This book was released on 2020-03-31 with total page 178 pages. Available in PDF, EPUB and Kindle. Book excerpt: A Mighty Girl Best Book of 2020! From debut author Sarah Allen comes a pitch-perfect, heartwarming middle grade novel about growing up, finding yourself, and loving people with everything you’re made of. Twelve-year-old Libby Monroe is great at science, being optimistic, and talking to her famous, accomplished friends (okay, maybe that last one is only in her head). She’s not great at playing piano, sitting still, or figuring out how to say the right thing at the right time in real life. Libby was born with Turner Syndrome, and that makes some things hard. But she has lots of people who love her, and that makes her pretty lucky. When her big sister Nonny tells her she’s pregnant, Libby is thrilled—but worried. Nonny and her husband are in a financial black hole, and Libby knows that babies aren’t always born healthy. So she strikes a deal with the universe: She’ll enter a contest with a project about Cecilia Payne, the first person to discover what stars are made of. If she wins the grand prize and gives all that money to Nonny’s family, then the baby will be perfect. Does she have what it takes to care for the sister that has always cared for her? And what will it take for the universe to notice?

Download or read book Sex Hormone Replacement Therapy written by Henry Burger and published by . This book was released on 2014-01-15 with total page 152 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Optic Disorders and Visual Field written by Ningli Wang and published by Springer. This book was released on 2019-03-01 with total page 584 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book discusses more than one hundred patients in which visual pathway is involved, and focuses on the role of visual field examination in the diagnosis of these diseases. It also highlights the application of concepts from the new interdiscipline, integration medicine as well as molecular biology and genetics in the analysis of the diseases. In this book, the commonly (typically) noticed changes in the visual field of patients with visual pathway disorders are mainly described in the chapter one titled as “Visual Field-related Anatomy of Visual Pathway” and chapter two titled as “Interpretation of Visual Field Test”, while the majority of the cases presented with "atypical" changes in visual field. At this point, the changes in the visual field could function as either a key to understand the disease, or a question mark which confuses the diagnosis. However, the process of pushing aside a fog around the diagnosis step by step helps the readers to gradually disclose the essence of the disease.

Download or read book Management of Genetic Syndromes written by Suzanne B. Cassidy and published by John Wiley & Sons. This book was released on 2011-09-20 with total page 1678 pages. Available in PDF, EPUB and Kindle. Book excerpt: The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics

Download or read book Diabetes Associated with Single Gene Defects and Chromosomal Abnormalities written by Fabrizio Barbetti and published by . This book was released on 2017 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume, written by renowned experts, provides complete coverage of the main genetic conditions associated with diabetes. Divided into five sections, it offers insights into genetic defects involving the pancreatic beta cell, extreme insulin resistance, ciliopathies, obesity and glucose metabolism, chromosomal defects, and other genetic conditions associated with increased susceptibility to diabetes. Other topics include the various subtypes of monogenic diabetes, such as the neonatal form and the Wolfram syndrome, as well as chromosomal defects leading to complex conditions affiliated with diabetes, like Trisomy 21 or Prader-Willi syndrome. There are also chapters dedicated to the poorly explored relationships between metabolism and neurodegenerative disorders like Friedreich's ataxia and muscular dystrophy. This book is a reference for every pediatric and adult endocrinologist and diabetologist, even experienced ones, with an interest in the intricacies and protean aspects of disorders of glucose metabolism secondary to genetic diseases.

Download or read book Pharmacoepigenetics written by Ramón Cacabelos and published by Academic Press. This book was released on 2019-06-04 with total page 986 pages. Available in PDF, EPUB and Kindle. Book excerpt: Pharmacoepigenetics provides a comprehensive volume on the role of epigenetics and epigenomics in drug discovery and development, providing a detailed, but accessible, view of the field, from basic principles, to applications in disease therapeutics. Leading international researchers from across academia, clinical settings and the pharmaceutical industry discuss the influence of epigenetics and epigenomics in human pathology, epigenetic biomarkers for disease prediction, diagnosis, and treatment, current epigenetic drugs, and the application of epigenetic procedures in drug development. Throughout the book, chapter authors offer a balanced and objective discussion of the future of pharmacoepigenetics and its crucial contribution to the growth of precision and personalized medicine. - Fully examines the influence of epigenetics and epigenomics in human pathology, epigenetic biomarkers for disease prediction, diagnosis, treatment, current epigenetic drugs and the application of epigenetic procedures in drug development - Features chapter contributions from leading international researchers in academia, clinical settings and the pharmaceutical industry - Instructs researchers, students and clinicians on how to better interpret and employ pharmacoepigenetics in drug development, efficiency and safety - Provides a balanced and objective discussion of the future of pharmacoepigenetics and its crucial role in precision medicine

Download or read book Diagnosis and Management of Ovarian Disorders written by Albert Altchek and published by Elsevier. This book was released on 2003-09-04 with total page 595 pages. Available in PDF, EPUB and Kindle. Book excerpt: This updated second edition of Diagnosis and Management of Ovarian Disorders provides thorough, yet succinct insight into the ever-changing realm of ovarian disorders. It presents a novel multidisciplinary approach to the subject as described by clinicians, surgeons, pathologists, basic scientists and related medical researchers. Topics covered include reproductive technology, early diagnosis of ovarian cancer, and management of menopause among others. The breadth of information provided by this book will appeal to clinicians and researchers involved in the study and treatment of ovarian disorders.KEY FEATURES* Includes updated information on early diagnosis of ovarian cancer* Reviews new diagnostic techniques for ovarian disorders* Discusses latest information on reproductive technology* Presents translational treatment linking laboratory research with clinical medicine

Download or read book Syndromes Rapid Recognition and Perioperative Implications written by Bruno Bissonnette and published by McGraw-Hill Education / Medical. This book was released on 2006-08-10 with total page 988 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book My Body written by Emily Ratajkowski and published by Metropolitan Books. This book was released on 2021-11-09 with total page 149 pages. Available in PDF, EPUB and Kindle. Book excerpt: INSTANT NEW YORK TIMES BESTSELLER "My Body offers a lucid examination of the mirrors in which its author has seen herself, and her indoctrination into the cult of beauty as defined by powerful men. In its more transcendent passages . . . the author steps beyond the reach of any 'Pygmalion' and becomes a more dangerous kind of beautiful. She becomes a kind of god in her own right: an artist." —Melissa Febos, The New York Times Book Review A "MOST ANTICIPATED" AND "BEST OF FALL 2021" BOOK FOR * VOGUE * TIME * ESQUIRE * PEOPLE * USA TODAY * CHICAGO TRIBUNE * LOS ANGELES TIMES * SHONDALAND * ALMA * THRILLEST * NYLON * FORTUNE A deeply honest investigation of what it means to be a woman and a commodity from Emily Ratajkowski, the archetypal, multi-hyphenate celebrity of our time Emily Ratajkowski is an acclaimed model and actress, an engaged political progressive, a formidable entrepreneur, a global social media phenomenon, and now, a writer. Rocketing to world fame at age twenty-one, Ratajkowski sparked both praise and furor with the provocative display of her body as an unapologetic statement of feminist empowerment. The subsequent evolution in her thinking about our culture’s commodification of women is the subject of this book. My Body is a profoundly personal exploration of feminism, sexuality, and power, of men's treatment of women and women's rationalizations for accepting that treatment. These essays chronicle moments from Ratajkowski’s life while investigating the culture’s fetishization of girls and female beauty, its obsession with and contempt for women’s sexuality, the perverse dynamics of the fashion and film industries, and the gray area between consent and abuse. Nuanced, fierce, and incisive, My Body marks the debut of a writer brimming with courage and intelligence.

Download or read book This Is Me My Journey with Turner Syndrome written by Kelsey Smith and published by Independently Published. This book was released on 2018-09-11 with total page 204 pages. Available in PDF, EPUB and Kindle. Book excerpt: Dear Reader, Welcome to my story! When I was 16, I found out I have a form of Turner syndrome. Learning about that diagnosis was like embarking on a journey that I never expected. At that point, I not only had to continue navigating through high school but, needed to make some big decisions for myself. I did

Download or read book Pediatric Clinical Advisor E Book written by Lynn C. Garfunkel and published by Elsevier Health Sciences. This book was released on 2007-07-05 with total page 858 pages. Available in PDF, EPUB and Kindle. Book excerpt: Quickly and confidently access the on-demand, go-to guidance you need to diagnose, treat, and manage hundreds of pediatric disorders! A new user-friendly "five-books-in-one" format makes it easier than ever for you to zero in on nearly 400 common pediatric diagnoses, common signs and symptoms (with diagnostic algorithms and differentials), plus commonly used tables, equations, and charts. Find the specific information you need quickly and easily with the aid of a consistent, bulleted outline format and alphabetical listings of diseases, topics, differential diagnoses, and algorithms. Deliver the best outcomes by incorporating clinical pearls from experts in the field into your practice. Reference the complete contents online anytime, fully searchable. Consult either the user-friendly text or the fully searchable web site to provide high-quality pediatric patient care - efficiently and effectively.

Download or read book The Condition written by Jennifer Haigh and published by Harper Collins. This book was released on 2009-10-13 with total page 622 pages. Available in PDF, EPUB and Kindle. Book excerpt: In the summer of 1976, during their annual retreat on Cape Cod, the McKotch family came apart. Now, twenty years after daughter Gwen was diagnosed with Turner's syndrome—a rare genetic condition that keeps her trapped forever in the body of a child—eminent scientist Frank McKotch is divorced from his pedigreed wife, Paulette. Eldest son Billy, a successful cardiologist, lives a life built on secrets and compromise. His brother Scott awakened from a pot-addled adolescence to a soul-killing job and a regrettable marriage. And Gwen—bright and accomplished but hermetic and emotionally aloof—spurns all social interaction until, well into her thirties, she falls in love for the first time. With compassion and almost painful astuteness, The Condition explores the power of family mythologies—the self-delusions, denials, and inescapable truths that forever bind fathers and mothers and siblings.