A5041386289- BRCA gene mutations in cancer
- Connective tissue disorders research
- Genetic factors in colorectal cancer
- Ovarian cancer diagnosis and treatment
- Cardiac Valve Diseases and Treatments
- Family Support in Illness
- Genomics and Rare Diseases
- Male Breast Health Studies
- Aortic Disease and Treatment Approaches
- DNA Repair Mechanisms
- Genetic Neurodegenerative Diseases
- Cancer Genomics and Diagnostics
- Childhood Cancer Survivors' Quality of Life
- Cardiovascular Issues in Pregnancy
- Connexins and lens biology
- Botulinum Toxin and Related Neurological Disorders
- Ethics and Legal Issues in Pediatric Healthcare
- Gene expression and cancer classification
- Genomic variations and chromosomal abnormalities
- Lipid metabolism and disorders
- Ethics in Clinical Research
- Inflammatory Myopathies and Dermatomyositis
- Intellectual Property Rights and Media
- Technology Use by Older Adults
- Global Cancer Incidence and Screening
Johnson & Johnson (United States)
2024
Janssen (United States)
2024
Janssen Scientific Affairs (United States)
2024
University Hospital of Wales
1996-2008
Indiana University School of Medicine
2006
Indiana University – Purdue University Indianapolis
1993-2006
Indiana University Bloomington
2006
Cardiff and Vale University Health Board
2002-2004
University of Wales
2000-2004
University of South Wales
2000
To identify risk factors in the development of arm edema (AE) after conservative management breast cancer, authors prospectively measured differences upper and lower circumference 282 patients with stage I or II cancer who received radiation. AE was defined as a difference 2.5 cm more either measurement between treated untreated arms. Median follow-up 37 months (range, 7-109 months). The crude frequency overall 19.5% (55 patients). In 21 (7.4%) transient; 34 (12.1%) had persistent AE, which...
Instability of a CAG repeat in 4p16.3 has been found Huntington's disease (HD) chromosomes. Unlike similar the fragile X syndrome, expanded HD showed no evidence somatic instability comparison blood, lymphoblast, and brain DNA from same persons. Four pairs monozygotic twins displayed identical lengths suggesting that size is determined gametogenesis. In contrast with syndrome tissue, mosaicism was readily detected as diffuse spread sperm samples. Typically, modal larger than corresponding...
To evaluate quantitative measures of eye movements as possible biomarkers in prediagnostic and early stages Huntington disease (HD).The study sample (n = 215) included individuals both at risk recently diagnosed with HD. All participants completed a uniform clinical evaluation which administration the Unified Huntington's Disease Rating Scale (UHDRS) by movement disorder neurologist molecular testing to determine HD gene status. A high resolution, video-based tracking system was employed...
This study in north east Scotland has shown that Marfan syndrome a minimal birth incidence of 1:9802 live births, prevalence 1:14217, and 8/30 (26.7%) cases our series are new mutations. The calculated mutation rate is 15 +/- 6.7 x 10(-6) there evidence reduced reproductive fitness.
Background: Because of the growing demand for genetic assessment, there is an urgent need information about what services are appropriate women with a family history breast cancer. Our purpose was to compare psychologic impact and costs multidisciplinary surgical assessment service those current provisions. Methods: We carried out prospective randomized trial consultation (the group) without control in 1000 All P values from two-sided tests. Results: Although statistically significantly...
Breast cancer is a rare condition in males. There dearth of information about the psychological and social impact this condition. Data from six in-depth interviews with men who had breast identified seven major issues. These were associated delay diagnosis, shock, stigma, body image, causal factors, provision emotional support. The findings small study suggest that there are factors for diagnosed which have implications their care management. recommendations arising development structured...
Importance Long-acting injectable (LAI) antipsychotics have the potential to improve adherence and symptom control in patients with schizophrenia, promoting long-term recovery. Paliperidone palmitate (PP) once every 6 months is first currently only LAI antipsychotic an extended dosing interval of months. Objective To assess outcomes PP received adults schizophrenia. Design, Setting, Participants In a 2-year open-label extension (OLE) study 1-year randomized clinical trial (RCT), eligible...
Management and care of men with breast cancer is based on that developed for women. Our study reports have specific issues regarding certain aspects their experience, including diagnosis, disclosure, support gender-specific information, offers suggestions improved patient care.
This study compared genetic nurse counsellors with standard services for breast cancer risk counselling in two regional genetics centres, Grampian region, North East Scotland and Cardiff, Wales. Women referred were randomised to an initial appointment either a counsellor (intervention) or clinical geneticist (current service, control). Participants completed postal questionnaires before, immediately after the episode 6 months later assess anxiety, general health status, perceived...
Nineteen patients were analysed by fluorescence in situ hybridisation (FISH) with selected 11p13 markers. They examined because they had either isolated sporadic or familial aniridia, aniridia one more of the WAGR (Wilms9 tumour, genital anomalies, and mental retardation) syndrome anomalies. The FISH markers from distal cosmids FO2121, PAX6 (aniridia), D11S324, WT1 tumour predisposition). Two abnormal, an apparently balanced reciprocal 7;11 translocation breakpoint, which was shown to be...
There is considerable interest in assessing patients with Marfan syndrome at the clinical, protein, and genetic levels. Clinical assessments are inconsistent between centres clinicians. no satisfactory clinical grading scales against which to analyse molecular information, limiting scope of clinical/ correlations. We present for major systems involved suggest that their widespread use will facilitate collaborative approaches correlations international therapy.
Individuals undergoing cancer genetic risk assessment have been found to a poor understanding of the process, which may affect how well they cope with learning their risk. This paper reports free‐text data from questionnaires completed by women randomised controlled trial psychological intervention. Of 268 for familial breast/ovarian who were invited take part in trial, 157 returned research questionnaires. these, 97 provided comments upon referral genetics clinic, 62 whilst waiting...
Summary Fourteen patients with Marfan syndrome, defined according to present criteria, had bone mineral content of the distal forearm measured by single photon absorptiometry. Patients were matched for age and sex a large local group healthy volunteers. While further work is needed other methods densitometry measurements at sites, our results provide no evidence that there an increased incidence osteoporosis in syndrome. Previous reports association probably due incorrect clinical diagnosis...
The aim of the study was to compare psychosocial outcomes for 50 new clinic attendees, referred cancer genetic counselling five UK centres. centres represented England, Scotland and Wales, were randomly selected from groups ranked by different levels clinical activity in genetics practice. Questionnaires assessed demographic data, risk perception, mental health use services pre-consultation at 1 12 months follow-up. Satisfaction measured attendees referring doctors A total 256 unaffected...
This paper presents the first full micro costing of a commonly used cancer genetic counselling and testing protocol in UK. Costs were estimated for Cardiff clinic Cancer Genetics Service Wales by issuing questionnaire to all staff, conducting an audit rooms equipment obtaining gross unit costs from finance department. A total 22 distinct event pathways identified patients at risk developing breast, ovarian, breast ovarian or colorectal cancer. The mean cost per patient £97–£151 moderate...
Most UK genetics centres offering predictive testing for hereditary non‐polyposis colorectal cancer (HNPCC) use an extended counselling protocol originally developed Huntington's disease. Shortened may be more appropriate in the context of treatable genetic conditions such as HNPCC. Twenty‐six high‐risk individuals were randomized to (two sessions education and reflection held 1 month apart) or shortened (a single educational session) prior HNPCC testing. Prospective questionnaires,...