1,720,982 research outputs found
WITHDRAWN: Dilemmas of the genome sequencing in clinical medicine
No full textThis article has been withdrawn at the request of the author(s) and/or editor. The Publisher apologizes for any inconvenience this may cause.The full Elsevier Policy on Article Withdrawal can be found at http://www.elsevier.com/locate/withdrawalpolicy
Molecular basis of clinical metabolomics
No full textMetabolomic assays, combined with other omic technologies, such as transcriptomics and proteomics, have gained relevant importance in clinical research. Significant progress has been made in the identification of biomarkers to detect many diseases in early stages, such as inborn errors of metabolism or different types of cancer. In this way the early diagnosis could lead to adequate management of the treatments for these diseases and, possibly, to improve the prognosis and the survival of the patients. In addition, in the last few years, numerous studies of metabolomics related to nutrition were carried out. Thus the area of nutrigenomics was growing rapidly providing information about changes in the metabolome of an individual after ingesting nutrients. This could lead to the discovery of new bioprotective foods against many diseases. In this review, we emphasize the use and application of metabolomics in clinical and medical research to improve the detection, diagnosis, and treatment of different diseases.Fil: Gomez Casati, Diego Fabian. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Rosario. Centro de Estudios Fotosintéticos y Bioquímicos. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas. Centro de Estudios Fotosintéticos y Bioquímicos; ArgentinaFil: Busi, María Victoria. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Rosario. Centro de Estudios Fotosintéticos y Bioquímicos. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas. Centro de Estudios Fotosintéticos y Bioquímicos; Argentin
GENOMICS AND CLINICAL MEDICINE
No full textContributors -- Pt. I. General genomics -- 1. From genes to genomes: a historical perspective / Ian Dunham and Don Powell -- 2. The human genome: structure and organization / Andrew Read -- 3. Human functional genomics and proteomics / Yoshiji Yamada, Sahoko Ichihara, and Masaharu Takemura -- 4. Epigenomics and human disease / Santiago Uribe Lewis, Christopher Everett, and Richard Festenstein -- 5. Genomic perspectives of human development / Dhavendra Kumar -- 6. Genetic and genomic approaches to taxonomy of human disease / Dhavendra Kumar -- 7. Genomic technologies / Ian M. Frayling -- 8. Nutritional genomics / Patrick J. Stover -- 9. Pharmacogenomics: drug development, drug response, and precision medicines / Michelle Penny and Duncan McHale -- Pt. II. Clinical genomics -- 10. Clinical medicine in the genome era: an introduction / Dhavendra Kumar -- 11. Complex cardiovascular disorders / Dan E. Arking -- 12. Diabetes mellitus and obesity / Mark I. McCarthy -- 13. Chronic renal disease / Albert C.M. Ong and A. Peter Maxwell -- 14. Hemostasis and thrombosis / John H. McVey and Edward G.D. Tuddenham -- 15. Disorders of platelets / Wadie F. Bahou -- 16. Applications in critical care medicine / Christopher S. Garrard, Charles Hinds, and Julian Knight -- 17. The epilepsies / Mark Gardiner -- 18. Neurodegenerative disorders: tauopathies and synucleinopathies / Huw R. Morris and Andrew Singleton -- 19. Neuropsychiatric diseases I: schizophrenia / Patrick F. Sullivan -- 20. Neuropsychiatric diseases II: mood disorders / Dhavendra Kumar -- 21. Asthma and chronic obstructive pulmonary disease / William O.C. Cookson -- 22. Inflammatory bowel disease / Saad Pathan and Derek Jewell -- 23. Genomics and cancer: mechanisms and applications / Mark Davies and Julian Sampson -- 24. Hematological malignancies: the paradigm of acute myeloid leukemia -- Kenneth I. Mills and Alan Burnett -- 25. Genomics and infectious diseases: susceptibility, resistance, antimicrobial therapy / Sarra E. Jamiesson and Christopher S. Peacock -- 26. Rheumatoid arthritis and related arthropathies / Pille Harrison and Paul Wordsworth -- 27. Immunological disorders / Tineke C.M.T. van der Pouw Kraan, and Cornelis L. Verweij -- 28. Applications in clinical pediatrics / Michael R. Konikoff and Michael D. Bates -- 29. Learning and behavioral disorders / Lucy Raymond and James Cox -- 30. Complex ophthalmic disorders / Forbes D.C. Manson, Andrew R. Webster, and Graeme C.M. Black -- 31. Applications in audiological medicine / Lut van Laer and Guy van Camp -- 32. Complex skin diseases I: psoriasis / Colin Veal and David Burden -- 33. Complex skin diseases II: atopic dermatitis / Nilesh Morar -- 34. Diseases of the epidermis and appendages, skin pigmentation and skin cancer / Eugene Healy, Alan D. Irvine, John T. Lear, and Colin S. Munro -- 35. Osteoporosis and related disorders / Yoshiji Yamada -- 36. Applications in obstetrics and gynecology and reproductive medicine / Gareth C. Weston, Anna Ponnampalam, and Peter A.W. Rogers -- 37. Stem cell genomics, and regenerative medicine / Philip Gaughwin, Wai-Leong Tam, and Bing Lim -- Pt. III. Health genomics -- 38. Genomics and global health / Sir David Weatherall and Dhavendra Kumar -- 39. Genetic testing and genomic screening / Angus Clarke -- 40. Ethical, legal, and social issues (ELSI) / Michael Parker -- 41. The regulation of human genomics research / Jane Kaye -- Glossary of selected terms and phrases -- On-line resources and other useful contact addresses -- Inde
Inherited Cardiac Muscle Disorders: Left Ventricular Noncompaction
No full textLeft ventricular noncompaction (LVNC) is a type of structural cardiac abnormality that displays genotypic and phenotypic heterogeneity. Morphologically, it is characterized by prominent ventricular trabeculae and deep intertrabecular recesses. It has traditionally been thought to be related to intrauterine arrest of myocardial development. While it is classified as a primary cardiomyopathy of genetic origin by the American Heart Association, the European Society of Cardiology classification defines it as an unclassified cardiomyopathy. Originally thought to be a rare disease seen mainly in children, there has been increasing identification in adults likely due to increased awareness and advances in cardiovascular imaging. Furthermore, although it is often associated with other congenital cardiac anomalies it can also be seen in association with dilated, hypertrophic and restrictive cardiomyopathies and in the absence of any cardiac defects
The implementation of genomics in healthcare: The challenge of justice
Get PDFMany ethical issues have been considered in relation to the implementation of genomics in modern healthcare. However, questions of justice have received less attention than other core ethical topics. When justice has been considered, it has largely focused on questions of “race,” ethnicity, and population groups. This topic is of immense importance, but there are other important areas where justice also needs to be considered
- …
