This case is about a 48-year-old woman known with a reduced butyrylcholinesterase activity, who developed prolonged neuromuscular blockade following the unintentional administration of succinylcholine. We took the opportunity to monitor the development of neuromuscular function during this period and blood samples were taken for molecular genetic analysis and for quantitative and qualitative an...

OBJECTIVE Videoconferencing for clinical genetics services, or telegenetics, is becoming an increasingly utilized method of delivering genetic counseling to rural areas; however, there has been little qualitative exploration of the practitioner's experience, particularly for hereditary breast/ovarian cancer counseling. METHODS Semistructured interviews were conducted with genetic practitioner...

BACKGROUND Stroke may be a clinical expression of several inherited disorders in humans. Recognition of the underlined genetic disorders causing stroke is important for a correct diagnosis, for genetic counselling and, even if rarely, for a correct therapeutic management. Moreover, the genetics of complex diseases such the stroke, in which multiple genes interact with environmental risk factors...

BACKGROUND The demand for genetic services is increasing as public awareness about 'predictive' tests increases and commercial marketing initiatives develop. In the UK, genetic services vary widely between regions. To manage demand, an all-Wales cancer genetics service based on telephone triage and referral guidelines was designed and implemented. OBJECTIVES The aim of this study was to exami...

The Human Genome Project will impact significantly on all branches ofhuman genetics, from the most basic research to the most practical clinical applications. The project also has social and legal implications that will impact mostly on human geneticists involved in patient care and genetic counseling. To assess this impact and to advise The American Society of Human Genetics (ASHG), the societ...

With the recent completion of the sequencing of the Human Genome, genetic testing will increasingly become available for a greater number of medical conditions, many of which are those that manifest in adulthood (e.g., various cancers, cardiovascular disease, diabetes) or for which little or no treatments are available (e.g., Alzheimer disease). Genetic services, defined here as those relating ...

In western European countries prostate cancer is one of the most common malignant disease among male population. Due to innovations in molecular genetics research technology over recent years genetic features etiology and pathogenesis have been discovered this helped distinguish people with high risk development. Hereditary forms tumors occupy a special position due association mutations BRCA1/...

BACKGROUND In families with hereditary cancer, at-risk individuals can benefit from genetic counselling and testing. General practitioners (GPs) are ideally placed to identify such families and refer them appropriately. OBJECTIVE To assess the practices, knowledge and attitudes of GPs regarding common hereditary cancers. METHODS An exploratory research design was used. An existing questionn...

It is with great sadness that we say goodbye to Marcy Carlson Speer, who died on August 4, 2007, at the age of 47 after a two-year battle with breast cancer. Marcy was an extremely accomplished scientist who, at the time of her death, was the director of the Duke Center for Human Genetics and chief of the Division of Medical Genetics. During her career, she published 124 articles and 16 book ch...

The clinical approach to patients with amyotrophic lateral sclerosis (ALS) has been largely modified by the identification of novel genes, the detection of gene mutations in apparently sporadic patients, and the discovery of the strict genetic and clinical relation between ALS and frontotemporal dementia (FTD). As a consequence, clinicians are increasingly facing the dilemma on how to handle ge...