The ciliopathies are a group of rare diseases that often affect multiple systems within the body, and are caused by defects in the function or structure of cilia. When cilia go wrong, there are profound consequences; these are discussed in detail for the first time in Ciliopathies: a reference for clinicians. The book provides a clinical overview and reference to this newly emergent group of disorders ranging from Alstroem syndrome to putative ciliopathic disorders. Each chapter provides an in-depth discussion on a specific disorder, including the latest scientific research together with a description of its features, and practical guidelines on diagnosis. The authors also examine the evidence for dysfunction of cilia in cancer and more common disorders. Ciliopathies: a reference for clinicians will appeal to those involved in the care of patients with ciliopathies, including specialists in the fields of nephrology, diabetes, cardiology, and ophthalmology, and non-clinical researchers interested in cilia biology.

DDDDDDDDDDDD Effective management logically follows accurate diagnosis. Such logic often is difficult to apply in practice. Absolute diagnostic accuracy may not be possible, particularly in the field of primary care, when management has to be on analysis of symptoms and on knowledge of the individual patient and family. This series follows that on Problems in Practice which was con cerned more with diagnosis in the widest sense and this series deals more definitively with general care and specific treatment of symp toms and diseases. Good management must include knowledge of the nature, course and outcome of the conditions, as well as prominent clinical features and assessment and investigations, but the emphasis is on what to do best for the patient. Family medical practitioners have particular difficulties and advantages in their work. Because they often work in professional isolation in the community and deal with relatively small numbers of near-normal patients their experience with the more serious and more rare conditions is restricted. They find it difficult to remain up-to-date with medical advances and even more difficult to decide on the suitability and application of new and relatively untried methods compared with those that are 'old' and well proven. vii Their advantages are that because of long-term continuous care for their patients they have come to know them and their families well and are able to become familiar with the more common and less serious diseases of their communities."

Clinicians have long been fascinated by the rare and exotic in med icine. Similarly, psychiatrists and mental health professionals have been intrigued by the uncommon and extraordinary syndromes which, despite their rarity, have much to teach us about the limitless forms of human adaptation. Of particular interest is the fact that fragments and partial expressions of these rare disorders are often encountered in the dreams and fantasies of the "ordinary" patient. For this reason, the understanding and insights collected in this volume are likely to have clinical usefulness far beyond those rare occasions when we encounter the exotic in its fully developed form. These disorders demonstrate the complex interplay between intra psychic dynamic forces and the cultural influences which act to shape overt symptomatology. The section on extraordinary syndromes from non-Western cultures demonstrates the universality of the psychody namic roots of human suffering, despite the seemingly strange furms in which this suffering is expressed. As clinicians we are too often restricted by ethnocentric attitudes and culturally determined stereotypes. This volume provides a stimulating and enjoyable opportunity to reach beyond those limitations."

Truly unique cutting edge state of the art information on basic and clinical research. A great help for the clinician to diagnose and treat this uncommon hormone resistance. Basic scientists learn how much has been discovered on the mechanism of hormone action from the mutations of the various genes involved to thyroid hormones and TSH.

Pituitary Disease brings together an international panel of experts who summarize the most recent and exciting advances in the diagnosis and treatment of pituitary disease. Coverage includes pathogenesis and pathology of pituitary tumors; clinical scenarios underpinning each type of pituitary tumor as well as their diagnosis and treatment. It is a useful resource for clinicians, students or researchers with an interest in the pituitary and its disorders.

Patients aftlicted with thyroid eye disease or Graves' ophthamopathy (GO) may experience not only pain and visual loss, but also disfigurement. Full understanding of pathogenesis has been elusive, and treatment modalities are imperfect. As with other conditions, more effective intervention will follow only after a better understanding of pathogenesis is reached. The goal of this volume is to give an overview by leaders in the field of the present state of the art both in pathogenesis and clinical aspects of GO. Much attention has been directed towards determining which cells within the orbit are targets of the autoimmune process, and how these and other cells might participate in the local inflammatory process. It is now generally agreed that orbital fibroblasts, preadipocyte fibroblasts, and adipocytes are the targeted and activated cells in GO and that full-length TSH receptor (TSHr) is expressed in these cells. Further, there is growing consensus that this receptor is up-regulated in the orbit in GO, residing primarily in newly differentiated adipocytes. However, it is also evident, given a sufficiently sensitive assay, that TSHr is detectable in fibroblasts and adipocytes from the normal orbit and other anatomic sites, as well. It will be important to determine whether the observed increase in orbital TSHr expression itself initiates the orbital autoimmune process. Also to be decided is whether orbital lymphocytes from GO patients specifically recognize this receptor, and what factor or factors unique to Graves' dIsease might stimulate TSHr expression in orbital cells.

The 4th International Symposium on Women's Health and Menopause, organized by the Giovanni Lorenzini Medical Foundation (Milan, Italy and Houston, Texas) focused on the new strategies to improve the quality of life of post-menopausal women. This volume illustrates the findings of this conference and includes information on the age-related degenerative processes occurring after menopause including cardiovascular disease, cancer, fractures and dementia.

Pituitary Adenylate Cyclase-Activating Polypeptide is the first volume to be written on the neuropeptide PACAP. It covers all domains of PACAP from molecular and cellular aspects to physiological activities and promises for new therapeutic strategies. Pituitary Adenylate Cyclase-Activating Polypeptide is the twentieth volume published in the Endocrine Updates book series under the Series Editorship of Shlomo Melmed, MD.

Cushing's Syndrome provides the reader with an update on the clinical presentation, diagnosis, and treatment of patients with Cushing's syndrome. Molecular mechanisms of pituitary and adrenal causes of Cushing's syndrome are reviewed in detail. Successful diagnostic and treatment strategies that have been employed by readers in the field are recommended and discussed. Numerous advances in the pathophysiology and diagnosis of Cushing's syndrome speak to the timeliness of this volume that has been penned by experts in the field.

From the perspective of the investigator, Graves' disease is a fascinating disorder with unique features and opportunities for study. The discovery in 1956 that Graves' disease was caused by a humoral factor, later shown to be an antibody to the TSH receptor, was a triumph for modern investigative medicine. Rapid progress is now being made in (i) understanding the molecular interaction between autoantibodies and the TSH receptor, (ii) identifying the genes that contribute to the predisposition to disease, (iii) developing an animal model of Graves' disease, and (iv) identifying the long-sought orbital antigen in ophthalmopathy. From the clinical standpoint, although Graves' disease is eminently treatable, there is no definitive cure. None of the therapeutic options are ideal. It is hoped that rapid progress in understanding the pathogenesis of the disease will lead to the ultimate goal of some form of immunotherapy that will make antithyroid drugs, radioiodine and thyroidectomy obsolete. The chapters in Graves' Disease: Pathogenesis and Treatment represent the viewpoints of many prominent clinicians and investigators working in the field. The editors are grateful for their contributions which cover an unusually comprehensive compendium of subjects relating to the disease.

From the tissue culture dish to genetically modified mice, this volume explores the long recognized role of steroid hormones in regulating cell proliferation and differentiation. Many striking effects of steroid hormones are apparent during development and neoplasia and these topics are covered extensively. Several chapters address the pharmacological uses of steroid and related hormones, their analogs and antagonists in controlling growth of endocrine cancers. This book also highlights the complex role of cross talk between steroid hormones and signals initiated at the cell surface in the regulation of cell cycle in hormone responsive tissues.

"In this outstanding volume, Dr. Gaillard has assembled a team of international experts who have written one of the most comprehensive treatises on this topic. Ranging from fundamental molecular developmental mechanisms of the corticotroph cell, to the treatment of Cushing's Disease, these chapters provide a cutting edge overview of the pathogenesis, diagnosis and treatment of disordered hypothalamic-pituitary-adrenal function. Especially noteworthy are the inclusion of chapters on appetite control and neuro-immunomodulation, reflecting the recent exciting advances in these fields. The student of Cushing's Disease and the HPA axis will find elucidation of the latest basic scientific advances, coupled with patient friendly guidelines for clinical diagnosis and management of an extremely challenging neuroendocrine disorder. The repute of the authors, highest quality writing, lucid text and comprehensive coverage of the topics, all blend to result in an excellent text."

Few complications of systemic diseases are better understood than diabetic nephropathy. In large part, progress in this area is due to Carl Erik Mogensen's steadfast preoccupation over more than three decades with the disorder's epidemiology, pathogenesis, pathophysiology, clinical diagnosis and evolving strategies of management. Though he sparked progress in each of these areas, he generously opens the forum of discussion to many expert contributors to this latest and most comprehensive edition of this exemplary textbook. In eliciting all relevant and up-to-date views, the reader, whether internist, pediatrician or specialist in endocrinology or nephrology, is assured a thorough review of the entire subject and in a format which is exceptionally well-written, well-illustrated and easy to read. Each of the prior editions have been an essential resource for my own work in this field and the 5th edition will no doubt continue to provide the information I and others will require to move forward in the years ahead. If only the other renal diseases were as masterfully synthesized, how much easier our task would be of achieving a comprehensive vision of all else in clinical nephrology. Barry M. Brenner, M.D., Samuel A. Levine Professor of Medicine, Harvard Medical School

Because of its relative rarity and favorable outcome, it has not been feasible to assess medical interventions for thyroid cancer using randomized prospective trials. The approach to diagnosis and treatment relies to a great extent on information derived from retrospective studies. Overall prognosis and survival rates have been edging upward over the past two decades. This is attributed to a wider acceptance of total thyroidectomy as the primary surgical strategy. The appropriate indication of radioiodine therapy remains controversial, and physicians must be familiar with staging criteria to make educated decisions. We are now beginning to understand the genetic mechanisms of thyroid tumor initiation and progression. There are still major challenges ahead. Thyroid Cancer provides comprehensive updates on the epidemiology, pathogenesis, diagnosis and treatment of thyroid neoplasms. Although the material should be of particular interest to scholars in the field, the contributors have striven to make it of practical use to physicians who treat patients with thyroid disease.

A hot topic with increasing importance Integrating contemporary scientific developments with practical management Written by leaders in the field of pediatric diabetes with extensive practical knowledge

Modern society is altering the lifestyle and longevity of its members much more quickly than evolutionary adaptation to these changes can take place. The problem of calcium deficiency in the population is compounded by the growing percentage of aged individuals with relatively fragile, less massive skeletons. Current-day civilizations are much more effective in prolonging human life in a state of relative debility than even a few decades ago. This reality is unlikely to change and mandates that we develop strategies to prevent aging-related diseases like osteoporosis before they become manifest. Osteoporosis: Genetics, Prevention and Treatment places emphasis on the (1) genetic predisposition, (2) early recognition and (3) prevention of osteoporosis. The intent is not to move the practitioner's attention away from intervention therapy of osteoporosis, but rather to expand their view of this disease as one beginning at birth and one in which susceptibility is manifest at the conclusion of adolescence, not at menopause. The book concludes with an informed view of the future in terms of the recognition, prevention and management of osteoporosis.

Use of real-time continuous glucose monitors among people with type 1 and type 2 diabetes is growing rapidly and should continue to grow until an artificial pancreas is brought to market. Likewise, use of professional systems in healthcare practices is expanding. But, other than manufacturer instructional manuals and some book chapters on CGMs, there are no standalone publications available with concise, non-commercial instructions on CGM prescription and use. Additionally, continuous glucose monitors are too often not used to their full and proper potential. This leaves users with suboptimal glucose control and can result in system abandonment. To address this, diabetes educator and author Gary Scheiner has created Practical CGM: Improving Patient Outcomes through Continuous Glucose Monitoring to give healthcare providers the skill to make more effective use of the data generated by continuous glucose monitors, in both real-time and on a retrospective analytic basis. Using a plain-language approach and distilling content to concise, practical tips and techniques, Scheiner has created a guide that will help practitioners optimize patient use of CGM systems and, ultimately, improve glucose control and patient health outcomes.

Cardiovascular disease is a common cause of morbidity and mortality in people with diabetes, and it is an issue that is becoming increasingly important to both cardiologists and specialists in diabetes. The routine management of patients with diabetes now includes close attention to the methods to control hyperglycaemia that give maximum reduction in cardiovascular events. This pocketbook details the complications that diabetes presents in relation to heart disease, introduces the reader to various risk factors and discusses the possible treatments that can be explored. This second edition has also been updated throughout to include new trial data, new drugs and updates on treatment of diabetes in heart failure patients. The information in this book is presented in an easy to use format, and supplemented with key figures, tables and summarized research findings.

JOSEPH MEITES The idea that the endocrine system is involved in aging processes is as old as the beginnings of endocrinology. The first endocrine experiment related to aging was reported by Brown-Sequard, who is usually re garded as the "father of endocrinology. " In 1889, at the age of 72 years, he reported that he had succeeded in rejuvenating himself by injections of testicular extracts from dogs and guinea pigs. Although the favorable effects observed may have been due mainly to the powers of auto suggestion, his reports created a considerable interest in endocrinology and its relation to aging, and eventually led to the use of estrogens for treating certain pre-and postmenopausal symptoms in women, and an drogens for treating some symptoms in aging men. Up to about the 1960's, the relatively few studies on endocrine-aging relationships dealt mainly with changes in weight and histological appearance of endocrine organs in aging animals and human subjects, and included a limited number of measurements of endocrine function by bioassays and chem ical (for steroids) procedures. Within these limitations, gerontological investigators were unable to establish any definite relationships between endocrine functions and aging processes, with the exception of the con nection between reproductive decline and gonadal and pituitary activity."

Stem Cell Therapy for Diabetes, one of the latest installments of the Stem Cell Biology and Regenerative Medicine series, reviews the three main approaches for generation of sufficient numbers of insulin-producing cells for restoration of an adequate beta-cell mass: beta-cell expansion, stem-cell differentiation, and nuclear reprogramming. Adeptly collecting the research of the leading scientists in the field, Stem Cell Therapy for Diabetes compares the merits of employing autologous versus banked allogeneic cell sources for generation of surrogate beta cells, and addresses tissue engineering and ways for cell protection from recurring autoimmunity and graft rejection. Stem Cell Therapy for Diabetes provides essential reading for those especially interested in tracking the progress in applying of one of the most exciting new developments in bio-medicine towards a cure for diabetes.

Psychology and Diabetes Care: A Practical Guide is a concise handbook for the practicing diabetes clinician who is interested in gaining a better understanding of his patients, and in learning simple skills and tips to manage patients more effectively. It identifies and explores key psychological interventions in diabetes care in order to help healthcare professionals support their patients effectively. Edited by an expert on the psychology of diabetes, and with contributions from a group of specialists in diabetes psychology, this book contains a myriad of insights into how to understand and treat the type 1 or type 2 diabetes patient.