Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Hematologic, Renal, and Immunologic Disorders, Seventh Edition thoroughly examines medical genetics and genomics as applied to hematologic, immunologic and endocrinologic disorders, with an emphasis on understanding the genetic mechanisms underlying these conditions, diagnostic approaches, and treatment methods. Here, genetic researchers, students and health professionals will find new and fully revised chapters on the genetics of red blood cell diseases, rhesus and other fetomaternal incompatibilities, immunodeficiency disorders, inherited complement deficiencies, celiac disease, and diabetes mellitus, as well as thyroid, parathyroid and gonad disorders, among other conditions. With regular advances in genomic technologies propelling precision medicine into the clinic, this book, which has served as the ultimate resource for clinicians integrating genetics into medical practice, continues to provide the most important information. With nearly 5,000 pages of detailed coverage, contributions from over 250 of the world's most trusted authorities in medical genetics, and a series of 11 volumes available for individual sale, this updated edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies.

The field of genetics is rapidly evolving, and new medical breakthroughs are occurring as a result of advances in our knowledge of genetics. Advances in Genetics continually publishes important reviews of the broadest interest to geneticists and their colleagues in affiliated disciplines.

These new volumes of Methods in Enzymology (554 and 555) on Hydrogen Sulfide Signaling continue the legacy established by previous volumes on another gasotransmitter, nitric oxide (Methods in Enzymology volumes 359, 396, 440, and 441), with quality chapters authored by leaders in the field of hydrogen sulfide research. These volumes of Methods in Enzymology were designed as a compendium for hydrogen sulfide detection methods, the pharmacological activity of hydrogen sulfide donors, the redox biochemistry of hydrogen sulfide and its metabolism in mammalian tissues, the mechanisms inherent in hydrogen sulfide cell signaling and transcriptional pathways, and cell signaling in specific systems, such as cardiovascular and nervous system as well as its function in inflammatory responses. Two chapters are also devoted to hydrogen sulfide in plants and a newcomer, molecular hydrogen, its function as a novel antioxidant.

These new volumes of Methods in Enzymology (554 and 555) on Hydrogen Sulfide Signaling continue the legacy established by previous volumes on another gasotransmitter, nitric oxide (Methods in Enzymology volumes 359, 396, 440, and 441), with quality chapters authored by leaders in the field of hydrogen sulfide research. These volumes of Methods in Enzymology were designed as a compendium for hydrogen sulfide detection methods, the pharmacological activity of hydrogen sulfide donors, the redox biochemistry of hydrogen sulfide and its metabolism in mammalian tissues, the mechanisms inherent in hydrogen sulfide cell signaling and transcriptional pathways, and cell signaling in specific systems, such as cardiovascular and nervous system as well as its function in inflammatory responses. Two chapters are also devoted to hydrogen sulfide in plants and a newcomer, molecular hydrogen, its function as a novel antioxidant.

Cell adhesion is a fundamental determinant of embryonic development and organogenesis. Cellular Adhesion in Development and Disease, volume 112 in Current Topics in Developmental Biology, comprehensively surveys current developments in understanding how adhesion systems affect organismal development. Topics covered include nectins, nectin-like molecules, and afadin in development; cadherin adhesion, signaling, and morphogenesis; endothelial cell junctions; epidermal development and barrier formation; and more.

This new volume of Methods in Enzymology continues the legacy of this premier serial with quality chapters authored by leaders in the field. This volume covers computational prediction RNA structure and dynamics, including such topics as computational modeling of RNA secondary and tertiary structures, riboswitch dynamics, and ion-RNA, ligand-RNA and DNA-RNA interactions.

Clinical Applications of Immunogenetics: Immunogenetics: A Molecular and Clinical Overview, Volume II provides readers with an exclusive, updated overview of scientific knowledge, achievements and findings in the field of immunogenetics. In thirteen chapters, the book gives insights in new advancements and approaches in viral and autoimmune diseases. Specific chapters are dedicated to immunogenetic mechanisms in the treatment of immune disorders, cancer, neurological and neurodegenerative disorders. In addition, other chapters cover immunogenomics in precision medicine, clinical medicine and transplantation. Finally, a special chapter, COVID-19: A novel challenge to human immune-genetic machinery, updates on thoughts surrounding the pandemic.

Inflammation and Obesity: A New and Novel Approach to Manage Obesity and its Consequences is a comprehensive and up-to-date exploration of the correlation between obesity and inflammation. From the pathophysiology of obesity and inflammation, to the molecular mechanisms of obesity induced chronic inflammation, the book discusses how obesity and inflammation interact with other diseases. It highlights the hidden risk factors of obesity induced chronic inflammation, provides specific patient management guidelines regarding the higher inflammatory response in patients, and concludes with new therapeutic strategies to address inflammation in obese patients.

One message that comes along with ever-improving fertility treatments and increasing acceptance of single motherhood, older first-time mothers, and same-sex partnerships, is that almost any woman can and should become a mother. The media and many studies focus on infertile and involuntarily childless women who are seeking treatment. They characterize this group as anxious and willing to try anything, even elaborate and financially ruinous high-tech interventions, to achieve a successful pregnancy.

But the majority of women who struggle with fertility avoid treatment. The women whose interviews appear in "Not Trying" belong to this majority. Their attitudes vary and may change as their life circumstances evolve. Some support the prevailing cultural narrative that women are meant to be mothers and refuse to see themselves as childfree by choice. Most of these women, who come from a wider range of social backgrounds than most researchers have studied, experience deep ambivalence about motherhood and non-motherhood, never actually choosing either path. They prefer to let life unfold, an attitude that seems to reduce anxiety about not conforming to social expectations.

Welcomed as liberation and dismissed as exploitation, egg freezing (oocyte cryopreservation) has rapidly become one of the most widely-discussed and influential new reproductive technologies of this century. In Freezing Fertility, Lucy van de Wiel takes us inside the world of fertility preservation—with its egg freezing parties, contested age limits, proactive anticipations and equity investments—and shows how the popularization of egg freezing has profound consequences for the way in which female fertility and reproductive aging are understood, commercialized and politicized. Beyond an individual reproductive choice for people who may want to have children later in life, Freezing Fertility explores how the rise of egg freezing also reveals broader cultural, political and economic negotiations about reproductive politics, gender inequities, age normativities and the financialization of healthcare. Van de Wiel investigates these issues by analyzing a wide range of sources—varying from sparkly online platforms to heart-breaking court cases and intimate autobiographical accounts—that are emblematic of each stage of the egg freezing procedure. By following the egg’s journey, Freezing Fertility examines how contemporary egg freezing practices both reflect broader social, regulatory and economic power asymmetries and repoliticize fertility and aging in ways that affect the public at large. In doing so, the book explores how the possibility of egg freezing shifts our relation to the beginning and end of life.

The field of genetics is rapidly evolving, and new medical breakthroughs are occurring as a result of advances in our knowledge of genetics. Advances in Genetics continually publishes important reviews of the broadest interest to geneticists and their colleagues in affiliated disciplines.

Fertility, Pregnancy, and Wellness is designed to bridge science and a more holistic approach to health and wellness, in particular, dealing with female-male fertility and the gestational process. Couples seeking to solve fertility issues for different reasons, whether failed assisted reproductive techniques or the emotional impact they entail, economic or moral reasons, are demanding more natural ways of improving fertility. This book explores the shift in paradigm from just using medications which, in the reproductive field, can be very expensive and not accessible to the entire population, to using lifestyle modifications and emotional support as adjunctive medicine therapies. This must-have reference brings together the current knowledge - highlighting the gaps - and delivers an important resource for various specialists and practitioners.

Allosteric Modulation of G Protein-Coupled Receptors reviews fundamental information on G protein-coupled receptors (GPCRs) and allosteric modulation, presenting original research in the area and collectively providing a comprehensive description of key issues in GPCR allosteric modulation. The book provides background on core concepts of molecular pharmacology while also introducing the most important advances and studies in the area. It also discusses key methodologies. This is an essential book for researchers and advanced students engaged in pharmacology, toxicology and pharmaceutical sciences training and research. Many of the GPCR-targeted drugs released in the past decade have specifically worked via allosteric mechanisms. Unlike direct orthosteric-acting compounds that occupy a similar receptor site to that of endogenous ligands, allosteric modulators alter GPCR-dependent signaling at a site apart from the endogenous ligand. Recent methodological and analytical advances have greatly improved our ability to understand the signaling mechanisms of GPCRs. We now know that allostery is a common regulatory mechanism for all GPCRs and not - as we once believed - unique to a few receptor subfamilies.

Pediatric Endocrine Self-Assessment Program (Pediatric ESAP (TM)), Reference Edition, 2019-2020 is a self-study curriculum specifically designed for endocrinologists seeking initial certification or recertification in pediatric endocrinology, program directors interested in a training instrument, and clinicians and health professionals seeking a self-assessment and a broad review of pediatric endocrinology. Pediatric ESAP (TM) consists of 100 multiple-choice questions in all areas of pediatric endocrinology, diabetes, growth, and metabolism. There is extensive discussion of each correct answer and references. Pediatric ESAP (TM) is updated every two years with new questions. Customers are advised that this book is a reference edition and the questions in it are designed for self-study and reference. The content is the same as the non-reference edition, but CME and MOC credits are not available upon completion of the material. Anyone with questions about CME and/or MOC credits should consult www.endocrine.org/store for further information.

Risk Factors for Cerebrovascular Disease and Stroke address the relationship of a wide variety of vascular risk factors in the spectrum of cerebrovascular diseases. An international group of professionals the forefront of research and education, provide their expertise about environmental and genetic determinants for cerebrovascular disease and stroke. The authors aim to provide information on developments of genetic, environmental and lifestyle-related risk factors of various subtypes of stroke, and MRI-markers of cerebrovascular disease. One in 2 men, and 1 in 3 women after the age of 40, will develop a stroke in their lifetime. The burden of cerebrovascular disease extends far beyond that of acute clinical events such as stroke, with "covert " vascular injury on brain MRI being highly prevalent in older community-dwelling persons. Therefore, improving our understanding of the risk factors for stroke and cerebrovascular disease is of paramount importance for improving prevention strategies. Secular trends in stroke epidemiology, risk factors, and intermediate markers (including carotid ultrasound, brain MRI and circulating biomarkers) are presented. Cutting edge information on genetic, environmental and lifestyle-related risk factors of various subtypes of stroke and MRI-markers of cerebrovascular diseases are displayed. This important book is an essential reference to physicians interested in more effective primary prevention of stroke.