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Inborn Errors of Metabolism
This volume is an expansion on the known treatment model of IEMs, one that establishes an innovative pathway approach and provides a new authority on this family of disease. Alongside the standard cadre of molecular and clinical underpinnings, this book includes coverage of newborn screening and an overarching treatment of IEMs as complex diseases.
Inherited Metabolic Epilepsies
The explosion of information in neurogenetics and metabolism mandates increasing awareness of appropriate diagnostic and therapeutic strategies in the setting of certain epilepsies, especially those of very early onset. There are over 200 inherited disorders that are associated with seizures and prompt identification and intervention is crucial for a positive outcome. This text brings together the leading authorities working in this area to present state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders. The book begins with general principles for diagnosis and targeted intervention including screening protocols, laboratory testing, seizure patterns and EEG findings, imaging, new technologies, and the ketogenic diet. The next two sections are devoted to the cohort of specific small molecule and large molecule disorders that are treatable yet can be so vexing to clinicians and investigators. The book concludes with a clinical algorithm designed to be a resource for the physician in search of direction while considering an inherited metabolic disorder as the explanation for a patient with epilepsy.
Mitochondrial Disorders Caused by Nuclear Genes
Mitochondrial cytopathies are mutations in the inherited maternal mitochondrial genome, or the nuclear DNA-mutation. Mitochondrial respiratory chain disorders (RCD) are a group of genetically and clinically heterogeneous diseases, due to the fact that protein components of the respiratory chain are encoded by both mitochondrial and nuclear genomes and are essential in all cells. In addition, the biogenesis, structure and function of mitochondria, including DNA replication, transcription, and translation, all require nuclear encoded genes. Since mitochondria are present in every cell, every tissue, mitochondrial disorder usually affects multiple organs.
Current Challenges in Cardiovascular Molecular Diagnostics
The field of cardiovascular genetics has tremendously benefited from the recent application of massive parallel sequencing technology also referred to as next generation sequencing (NGS). However, along with the discovery of additional genes associated with human cardiac diseases, the analysis of large dataset of genetic information uncovered a much more complex and variegated landscape, which often departs from the comfort zone of the monogenic Mendelian diseases image that clinical molecular geneticists have been well acquainted with for many decades. It is now clear that, in addition to highly penetrant genetic variants, which in isolation are able to recapitulate the full clinical presen...
Evolution of South American Mammalian Predators During the Cenozoic: Paleobiogeographic and Paleoenvironmental Contingencies
This book summarizes the evolution of carnivorous mammals in the Cenozoic of South America. It presents paleontological information on the two main mammalian carnivorous groups in South America; Metatheria and Eutheria. The topics include the origin, systematics, phylogeny, paleoecology and evolution of the Sparassodonta and Carnivora. The book is based on a wide variety of published sources from the last few decades.
Aro – Healing Touching Lives – Theories, Techniques and Therapies
CHAPTER 1: Definition and Outline OVERVIEW The Founding History of Aro-healing MASSAGES, THERAPIES, TREATMENTS Governing Bodies, Mission and Company Profile The Role of Massage, The Aro-healing Technique The Role of Touch, The Aro- Touch Technique, Aro-Reflex Stimulation Therapy What is Aro-healing, Advantages of using Aro-health massages Professional Massages Significance of Aro-healing Contents for Chapter 2: Whole Medical Systems Influencing the Body, Influencing the Mind, History of Massage, Massage Therapy, Massage as a way of relieving stress Different Types of Massage Therapies Different Types of Massage and Touch Therapy Techniques Therapy Discussion: Aromatherapy, Essential Oils (10...
Three-Dimensional Analysis of Rare Facial Clefts and Clinical Facial Appearance
This book explores craniofacial anatomical variations using photographic images, three-dimensional images, and computed tomography reconstruction, giving the reader a better understanding of the craniofacial structures involved in each type of facial cleft, their phenotypic variations, and their associations with other rare facial clefts. This will also aid the visualization of the relationship between tissue and bone changes. This book, through providing in-depth knowledge of the morphology of rare facial clefts, aims to contribute towards the establishment of personalized and individualized therapeutic practices in highly complex cases of facial clefts, and the improvement of the rehabilitation process for the patients.
South American and Antarctic Continental Cenozoic Birds
Modern birds (Neornithes) are represented by two big lineages, the Palaeognathae (Tinamiformes + Ratitae) and the Neognathae [Galloanserae + Neoaves (Metaves + Coronoaves)]. Both clades sum approximately 10,000 species of which 60% are Passeriformes (the most diverse clade of terrestrial vertebrates). A comparison between the past and the present reveals a complex and hallmarked evolutionary and biogeographic history which would have begun over 65 million years ago. For South America (SA) this includes: (1) the presence of taxa with uncertain affinities and the absence of Passeriformes during the Paleogene; (2) a progressive and accelerated increase of the species starting at the Neogene (Mi...
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases
This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases.
Handbook of Clinical Adult Genetics and Genomics
Handbook of Clinical Adult Genetics and Genomics: A Practice-Based Approach provides a thorough overview of genetic disorders that are commonly encountered in adult populations and supports the full translation of adult genetic and genomic modalities into clinical practice. Expert chapter authors supplement foundational knowledge with case-based strategies for the evaluation and management of genetic disorders in each organ system and specialty area. Topics discussed include employing genetic testing technologies, reporting test results, genetic counseling for adult patients, medical genetics referrals, issues of complex inheritance, gene therapy, and diagnostic and treatment criteria for developmental, cardiovascular, gastrointestinal, neuropsychiatric, pulmonary issues, and much more. - Employs clinical case studies to demonstrate how to evaluate, diagnosis and treat adult patients with genetic disorders - Offers a practical framework for establishing an adult genetics clinic, addressing infrastructure, billing, counseling, and challenges unique to adult clinical genetics - Features chapter contributions from authors at leading adult genetics institutions in the US and abroad
