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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 is composed by the papers accepted for presentation and discussion at The 2019 International Conference on Information Technology & Systems (ICITS'20), held at the Universidad Distrital Francisco José de Caldas, in Bogotá, Colombia, on 5th to 7th February 2020. ICIST is a global forum for researchers and practitioners to present and discuss recent findings and innovations, current trends, professional experiences and challenges of modern information technology and systems research, together with their technological development and applications. The main topics covered are: information and knowledge management; organizational models and information systems; software and systems modelling; software systems, architectures, applications and tools; multimedia systems and applications; computer networks, mobility and pervasive systems; intelligent and decision support systems; big data analytics and applications; human–computer interaction; ethics, computers & security; health informatics; information technologies in education.
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 book provides comprehensive, state-of-the art insights into aortic valvuloplasty. Aortic valve repair is a relatively new procedure. Since first being successfully performed in the 1990s was objectively assessed in the 2000s, this procedure has now become standardized, reproducible, and popular around the globe. Written by experts in surgery and cardiology and richly illustrated, it discusses the aspects of anatomy, pathophysiology, diagnosis and surgical procedure that are essential for successful repair. Contributing to the popularization and development of aortic repair, it is a valuable resource for surgeons, cardiologists, cardio-anesthetists and paramedical staff interested in the field and will be good resource for popularizing and developing aortic valve repair.
We all like to eat, but we are doing it wrong, and it gets worse every day. Deceived by the food industry, advertising, culinary fake news, and Aunt Bertha's nutrition advice, with every bite we are making nefarious decisions that steal our energy and make us both ill and fat. How can we stop this cycle? Who should we believe? How can we change our habits without becoming rigid and boring? In this book, renowned doctor Carlos Jaramillo offers robust answers to these questions and states that the key to optimal weight and health is our metabolism. Understanding what it is, how it operates, and what we can do to make it work in our favor is fundamental. And it is what the reader will accomplish on these pages.
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.
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...
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