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Genetic Discoveries (genetic + discovery)

Distribution by Scientific Domains
Medical Sciences50%

Selected Abstracts

National guidelines for adult autopsy cardiac dissection and diagnosis , are they achievable?

HISTOPATHOLOGY, Issue 1 2008
A personal view
Adult autopsy cardiac pathology has been previously a quiet backwater of ischaemic heart disease and the occasional cardiomyopathy. This has changed to an increasingly tense area, following recent genetic discoveries and some medicolegal cases. All autopsy pathologists should consider their dissection protocols and check that they are able to deliver the increasingly detailed information that clinicians, geneticists and families require. This text has suggestions about the practical realities of cardiac dissection, cardiac histology and the need for other tests alongside illustrations aimed to assist case consideration. [source]

Genomics and Cardiovascular Disease

JOURNAL OF NURSING SCHOLARSHIP, Issue 4 2005
Lorraine Frazier
Purpose: To describe genetic knowledge and discovery in the area of cardiovascular disease (CVD) and to discuss how these new advances will influence the clinical care of affected people. Organizing Framework: A selective review of the literature is presented on the disease mechanism of both the Mendelian and multifactorial genetic cardiovascular conditions. A case study approach is used to illustrate how the genetic paradigm affects the healthcare experience of a family affected with familial hypertrophic cardiomyopathy. Findings: The current state of CVD treatment remains complex. An understanding of genomic concepts and a genome-based approach is necessary to determine: (a) the risk of CVD susceptibility beyond traditional risk factors; (b) early detection of illness; (c) response to treatment; and (d) molecular taxonomy of the disease. Conclusions: The results of genetic research, education, and teaching will lead to a new understanding of genes and pathways, resulting in powerful new therapeutic approaches to CVD. The challenge is to translate genetic discoveries into clinical practice that ultimately leads to preventing CVD and reducing mortality. [source]

"Lucy" redux: A review of research on Australopithecus afarensis,

AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY, Issue S49 2009
William H. Kimbel
Abstract In the 1970s, mid-Pliocene hominin fossils were found at the sites of Hadar in Ethiopia and Laetoli in Tanzania. These samples constituted the first substantial evidence for hominins older than 3.0 Ma and were notable for some remarkable discoveries, such as the "Lucy" partial skeleton and the abundant remains from the A.L. 333 locality at Hadar and the hominin footprint trail at Laetoli. The Hadar and Laetoli fossils were ultimately assigned to the novel hominin species Australopithecus afarensis, which at the time was the most plesiomorphic and geologically ancient hominin taxon. The discovery and naming of A. afarensis coincided with important developments in theory and methodology in paleoanthropology; in addition, important fossil and genetic discoveries were changing expectations about hominin divergence dates from extant African apes. This coincidence of events ensured that A. afarensis figured prominently in the last 30 years of paleoanthropological research. Here, the 30+ year history of discovery, analysis, and interpretation of A. afarensis and its contexts are summarized and synthesized. Research on A. afarensis continues and subject areas in which further investigation is needed to resolve ongoing debates regarding the paleobiology of this species are highlighted. Yrbk Phys Anthropol 52:2,48, 2009. © 2009 Wiley-Liss, Inc. [source]

Autism spectrum disorders: clinical and research frontiers

CHILD: CARE, HEALTH AND DEVELOPMENT, Issue 5 2008
Richard Reading
Autism spectrum disorders: clinical and research frontiers . CaronnaE. B., MilunskyJ. M. & Tager-FlusbergH. ( 2008 ) Archives of Disease in Childhood , 93 , 518 , 523 . DOI: 10.1136/adc.2006.115337 . Autism spectrum disorders (ASD) are common neurodevelopmental disorders that occur along a broad continuum of severity with impairments in social interactions, communication and behaviour. This review highlights recent advances in autism research that shed light on the causes of the disorder and that have implications for clinical practice. It focuses on (1) the rising prevalence of ASD with attention given to recent epidemiological studies, (2) important genetic discoveries that may affect clinical evaluation of children with ASD, (3) active areas of research in cognitive neuroscience that seek to explain the underlying mechanisms of a complex disorder and (4) important studies on clinical populations with implications for screening and early identification of infants and toddlers with ASD. [source]