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Los errores innatos del metabolismo (EIM) comprenden más de 800 enfermedades genéticas monogénicas, muy poco frecuentes, de difícil diagnóstico y tratamiento. Son enfermedades complejas cuyo manejo integral exige grupos interdisciplinarios que deben contar con un pediatra, un neuropediatra, un genetista, un nutricionista, un psicólogo y un bioquímico. El libro presenta en forma resumida los aspectos necesarios para alertar al médico general y al pediatra sobre el diagnóstico y tratamiento de los EIM. También indica cómo atender las urgencias y guiar al paciente hacia los especialistas preparados para precisar el diagnóstico y dar el manejo apropiado a la enfermedad. Esta obra pretende motivar a médicos, bacteriólogos, nutricionistas y estudiantes de ciencias de la salud al estudio de los errores innatos del metabolismo.
This book focuses on recent developments of Pichia pastoris as a recombinant protein production system. Highlighted topics include a discussion on the use of fermentors to grow Pichia pastoris, information on the O- and N-linked glycosylation, methods for labeling Pichia pastoris expressed proteins for structural studies, and the introduction of mutations in Pichia pastoris genes by the methods of restriction enzyme-mediated integration (REMI). Each chapter presents cutting-edge and cornerstone protocols for utilizing P. pastoris as a model recomibinant protein production system. This volume fully updates and expands upon the first edition.
The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index. Clinical and diagnostic details with a system and symptom based are given to facilitate an efficient and yet complete diagnostic work-up of individual patients. Further, it offer...
This book is about the importance of water in determining the structure, stability and responsive behavior of biological membranes. Water confers to lipid membranes unique features in terms of surface and mechanical properties. The analysis of the hydration forces, plasticiser effects, controlled hydration, formation of microdomains of confined water suggests that water is an active constituent in a water-lipid system. The chapters describe water organization at the lipid membrane–water interphase, the water penetration, the long range water structure in the presence of lipid membranes by means of X-ray and neutron scattering, general polarization, fluorescent probes, ATR-FTIR and near inf...
Seventeen-year-old Miguel Angel spends every minute after school at the Packing Shed, working out with the Alisal Boxing Club. He dreams of becoming a champion so he can get his mother and five siblings out of their cramped one-bedroom apartment in one of Salinas’ poorest barrios. But suddenly his life gets more complicated. The city is threatening to take the Packing Shed away from Coach, and without a place to train he won’t be able to avoid the gangbangers in his neighborhood. His childhood friend, Beto, has succumbed to the wiles of easy money and expensive cars, and Miguel Angel wonders if he’ll be able to resist his friend. Meanwhile, beautiful blonde Britney from Pebble Beach ha...
This book provides a comprehensive overview of the recent trends in various Nanotechnology-based therapeutics and challenges associated with its development. Nanobiotechnology is an interdisciplinary research that has wide applications in the various fields of biomedical research. The book discusses the various facets of the application of Nanotechnology in drug delivery, clinical diagnostics, Nanomedicine and treatment of infectious and chronic diseases. The book also highlights the recent advancements on important devices and applications that are based on Nanotechnology in medicine and brief the regulatory and ethical issues related to nanomedical devices. It also reviews the toxicological profile of various nanomaterials and emphasizes the need for safe nanomaterials for clinical use. Finally, the book discusses the recent developments of potential commercial applications of Nanotechnology.
Mucopolysaccharidoses (MPS) are caused by a deficiency of lysosomal enzyme activities needed to degrade glycosaminoglycans (GAGs), which are long unbranched polysaccharides consisting of repeating disaccharides. GAGs include: Chondroitin sulfate (CS), dermatan sulfate (DS), heparan sulfate (HS), keratan sulfate (KS), and hyaluronan. Their catabolism may be blocked singly or in combination depending on the specific enzyme deficiency. There are eleven known enzyme deficiencies, resulting in seven distinct forms of MPS with a collective incidence higher than 1 in 25,000 live births. Accumulation of undegraded metabolites in lysosomes gives rise to distinct clinical syndromes. Generally, the cli...
This reference provides concise information on the treatment and management of inherited metabolic diseases for the clinician. World experts cover all commonalities of therapy giving practical advice and guidance for daily practice. All established treatment protocols in this quickly developing area of medicine are clearly described, including follow-up protocols and monitoring. Alternative and experimental therapies are also described and evaluated. Numerous tables, figures, and several indices (symptom, disease name, tests, etc.) allow rapid access to specific details. This book is invaluable to anyone dealing with patients with inherited metabolic diseases, pediatricians, internists, neurologists, and clinical geneticists.
This volume compiles accepted contributions for the 2nd Edition of the Colombian Computational Biology and Bioinformatics Congress CCBCOL, after a rigorous review process in which 54 papers were accepted for publication from 119 submitted contributions. Bioinformatics and Computational Biology are areas of knowledge that have emerged due to advances that have taken place in the Biological Sciences and its integration with Information Sciences. The expansion of projects involving the study of genomes has led the way in the production of vast amounts of sequence data which needs to be organized, analyzed and stored to understand phenomena associated with living organisms related to their evolution, behavior in different ecosystems, and the development of applications that can be derived from this analysis.
A series of interviews with the Chilean author.