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Molecular Genetics and Pathogenesis of Ehlers–Danlos Syndrome and Related Connective Tissue Disorders
Ehlers–Danlos syndromes (EDS) are a group of heritable connective tissue disorders (HCTDs) characterized by a variable degree of skin hyperextensibility, joint hypermobility and tissue fragility. The current EDS classification distinguishes 13 subtypes and 19 different causal genes mainly involved in collagen and extracellular matrix synthesis and maintenance. EDS need to be differentiated from other HCTDs with a variable clinical overlap, including Marfan syndrome and related disorders, some types of skeletal dysplasia and cutis laxa. The clinical recognition of EDS is not always straightforward, and, for a definite diagnosis, molecular testing can be of great assistance, especially in pa...
Diagnostic Bacteriology Protocols
The field of bacterial diagnostics has seen unprecedented advances in recent years. The increased need for accurate detection and identification of bacteria in human, animal, food, and environmental samples has fueled the development of new techniques. The field has seen extensive research aided by the information from bacterial genome sequencing projects. Although traditional methods of bacterial detection and identification remain in use in laboratories around the world, there is now a growing trend toward the use of nucleic ac- based diagnostics and alternative biochemically and immunologically based formats. The ultimate goal of all diagnostic tests is the accurate detection, identification, or typing of microorganisms in samples of interest. Although the resulting information is of obvious use in the areas of patient management, animal health, and quality control, it is also of use in monitoring routes of infection and outlining strategies for infection control. There is, therefore, a need to ensure that the information being provided is of the highest standard and that any new technique is capable of delivering this.
Body Recomposition
Obesity is a global pandemic rising beyond the status of a lifestyle disorder, and its consequences include impaired metabolism, energy disruption, and abdominal fat deposition and storage. Body Recomposition: A Comprehensive and Metabolic Alternative to Weight Loss presents information on body recomposition, which emphasizes the approach of losing fat while gaining muscle. It contains vast research on topics including factors that influence fat accumulation, strategies for weight management, healthy diet and eating patterns, physical exercise, and lifestyle strategies in healthy weight management. Features: Influence of non-alcoholic fatty liver disease (NAFLD) on stored fat accumulation an...
Aneurysms-Osteoarthritis Syndrome
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
Connective Tissue and Its Heritable Disorders
The Second Edition of Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects is the definitive reference text in its field, with over 40% more pages on the nature, diagnosis, and treatment of disease than its predecessor. Collecting new research on disorders detailed in the first edition as well as on those previously excluded, editors Peter Royce and Beat Steinmann provide the most up-to-date clinical and scientific information for medical specialists treating affected individuals. Features of this revised and updated volume include detailed reviews of the clinical diagnosis, mode of inheritance, risk of recurrence, and prenatal diagnosis of each inherited connective tissue disorder; a thorough description of the morphology of connective tissues; a completely updated and revised section on the biology of the extracellular matrix; and the addition of syndromes such as craniosyntosis, and disorders of sulfate metabolism.
The Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrom.
Hypermobility, Fibromyalgia and Chronic Pain
This groundbreaking new text explains and documents the scientific basis of chronic pain in Joint Hypermobility Syndrome (JHS) and other heritable disorders of connective tissue from the physiological, epidemiological, genetic and clinical viewpoints. It asks the reader to consider the possibility of JHS, identify it clinically, understand its co-morbidities, including interdependencies with Fibromyalgia and Chronic Fatigue Syndrome, while managing the condition appropriately. Hypermobility, Fibromyalgia and Chronic Pain takes a multi-specialty and multidisciplinary approach to understanding JHS and its management, drawing together expertise from a broad group of internationally-recognized a...
Lucio Fontana
None
Progress in Heritable Soft Connective Tissue Diseases
This volume is a reference handbook focusing on diseases like Marfan syndrome, Ehlers-Danlos syndrome, Loeys-Dietz syndrome and other heritable soft connective tissue diseases. The book presents detailed information for both basic scientists and for clinicians seeing patients. It is also a stepping stone for new investigations and studies that goes beyond the facts about the composition and biochemistry of the connective tissue and extracellular matrix, as the authors connect individual components to specific aspects of various soft tissue disorders and to the actual or potential treatment of them. Progress in Heritable Soft Connective Tissue Diseases features very prominent physicians and s...
