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Arterial hypertension affects about 1 billion people worldwide and it is the strongest modifiable risk factor for cardiovascular disease and related disability. Since the initial discovery of rare monogenic disorders with large effects, the role of genomics has evolved into large genome-wide association studies detecting common variants with a modest effect size. Similarly, pharmacogenomics has emerged as a new tool for understanding variability in drug response, to maximize efficacy and reduce toxicity. This book presents the most recent advances in the field of genetics and genomics of arterial hypertension and their potential impact on clinical management. The book is a useful tool for clinicians but also to the research community and those who want to be updated in the field.
This book offers an overview of the latest advances in the epidemiological, pathophysiological, diagnostic and therapeutic aspects of secondary hypertension, provided by a group of the most highly respected European experts in this field. It is common belief that secondary forms of hypertension are rare, although in 95% of patients the cause of high blood pressure is unknown – euphemistically referred to as “essential”. There is increasing evidence from epidemiological studies that the prevalence of secondary hypertension is much higher than previously thought, accounting for 20%-25% of all hypertensive patients. There are additional, very good reasons for identifying those patients wi...
Adrenal tumors are commonly encountered in the practice of radiology (adrenal incidentalomas). They may arise from the adrenal gland itself, either the cortex or the medulla, or they could be secondary lesions, and they may be benign or malignant. When an adrenal tumor is identified, the key clinical questions are whether it is functioning and whether it is malignant. It is vital to be familiar with imaging characteristics of adrenal tumors for appropriate diagnosis and management. Regarding functionality, although 75% of adrenal tumors are non-functioning cortical adenomas, there is a subset of these masses with important clinical consequences (i.e. primary adrenal cancer or metastases to adrenal glands, pheochromocytoma and functional tumors that secrete cortisol, aldosterone or androgens). The delayed or false diagnosis may lead to development of severe complications of excess of secreted hormones (e.g. resistant hypertension, diabetes mellitus, osteoporosis in case of hypercortisolaemia, hypertensive crisis or myocardial infarction in case of pheochromocytoma) or metastases (in case of primary adrenal cancer of malignant pheochromocytoma).
Primary Aldosteronism (PA) is a disease caused by the overproduction of aldosterone hormone from the adrenal glands. PA causes hypertension and the majority with this disease are undiagnosed for PA. There are new insights into this matter by using biochemistry as well as advanced radiology. In 2011, a breakthrough in the genetic derangements came, identifying a mutated potassium channel gene – KCNJ5 – in about 40% of PA with adenoma. Chapters in this book include a history of the disorder, epidemiology, genetics derangements, the KCNJ5 mutations and phenotype and more.
The 1997 classification of diabetes mellitus, now accepted worldwide, includes a large section of ‘Other specific types of diabetes’, a good part of which is made up of diabetes secondary to other endocrine or pancreatic disorders. However, a comprehensive overview on how these disorders may lead to diabetes, and how to diagnose and treat them, was not available so far. Filling this gap, this book includes detailed descriptions of glucose metabolism derangements in other endocrine and pancreatic disorders. Leading experts in their fields present an exhaustive overview of the most-updated evidence on the etiopathological mechanisms underlying the development of diabetes in patients with endocrine and pancreatic disorders, and the relevant diagnostic and therapeutic approaches. Because of its multidisciplinary approach, this book is of great interest to endocrinologists, diabetologists, general practitioners, internal medicine specialists and surgeons, and will remain a reference source for years to come.
Genetics and Epigenetics of Genitourinary Diseases aims to provide a comprehensive collection of data on genetics and epigenetics in almost all genitourinary diseases for researchers, clinicians, and graduate students.This book discusses several genetic and epigenetic changes like DNA methylation, mutations, single nucleotide polymorphisms, DNA rearrangements, chromosomal remodeling, microsatellite instability, and chromosomal instability (CIN) in genitourinary cancers.This book is split into 18 chapters, beginning with the importance of genetics and epigenetics in genitourinary diseases. It then goes on to cover the genetics and epigenetics of various diseases and tumors. Certain chapters p...
The prevalence of hypertension is almost three times as high as that of diabetes mellitus type 2, with both conditions being major risk factors for stroke, ischemic heart disease, cardiac arrhythmias, and heart failure. The exact prevalence of hypertension related to hormonal derangements (endocrine hypertension) is not known but estimated to affect less than 15% of hypertensive patients. Recent scientific discoveries have increased the understanding of the pathophysiologic mechanisms of hypertension. In Endocrine Hypertension, a renowned panel of experts provides a comprehensive, state-of-the-art overview of this disorder, discussing when to assign an endocrine cause in one of many conditio...