A5078528246- BRCA gene mutations in cancer
- Genetic Neurodegenerative Diseases
- Genomics and Rare Diseases
- Ethics in Clinical Research
- Nutrition, Genetics, and Disease
- DNA Repair Mechanisms
- Neurological disorders and treatments
- Parkinson's Disease Mechanisms and Treatments
- Childhood Cancer Survivors' Quality of Life
- Biomedical Ethics and Regulation
- Family Support in Illness
- Ethics in medical practice
- Mitochondrial Function and Pathology
- Ethics and Legal Issues in Pediatric Healthcare
- Child and Adolescent Health
- Genetics and Neurodevelopmental Disorders
- Family and Disability Support Research
- Cystic Fibrosis Research Advances
- Biotechnology and Related Fields
- Autism Spectrum Disorder Research
- School Health and Nursing Education
- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- Nursing Education, Practice, and Leadership
- Pharmacological Effects and Toxicity Studies
University of Iowa
2014-2023
University of Edinburgh
2023
St Thomas' Hospital
2023
Royal Marsden Hospital
2022
American Nurses Credentialing Center
2020
American Academy of Nursing
2015-2019
Northwick Park Hospital
2017
Genomic Health (United States)
2017
Imperial College Healthcare NHS Trust
2011
Charing Cross Hospital
2011
There is growing consensus that intervention and treatment of Huntington disease (HD) should occur at the earliest stage possible. Various early-intervention methods for this fatal neurodegenerative have been identified, but preventive clinical trials HD are limited by a lack knowledge natural history dearth appropriate outcome measures. Objectives current study to document premanifest progression in largest cohort ever studied develop battery imaging markers can be used as measures trials....
Advances in genomic research are increasingly identifying genetic components major health and mental disorders. This article presents a Family System Genetic Illness model to address the psychosocial challenges of conditions for patients their families, help organize this complex biopsychosocial landscape clinical practice research. clusters disorders based on key characteristics that define types with similar patterns demands over time. Key disease variables include likelihood developing...
The goals of this study were to determine whether vasa vasorum in atherosclerotic coronary arteries respond vasoactive stimuli and examine effects regression atherosclerosis on blood flow through arteries. We studied three groups monkeys: normal, atherosclerotic, regression. Blood was measured with microspheres. intima-media (ml/min x 100 g) 5 +/- 1 (mean SEM) normal 47 7 monkeys (p less than 0.05). Infusion phenylephrine or serotonin did not alter monkeys. In monkeys, decreased 24 4 0.05),...
To describe the experiences of disclosing genetic test results to biological family members among people tested for Huntington's disease (HD) or hereditary breast and ovarian cancer (HBOC).Grounded theory methodology.Open-ended, tape-recorded interviews were conducted with 29 participants-24 who had received 5 decided not be tested. The participants from three countries, including 15 U.S. states. Interviews occurred 2 months 4 years after receiving results. Tapes transcribed analyzed...
Abstract The basic aim of this study was to evaluate the current accepted standard clinical endpoint for earliest‐studied HD participants likely be recruited into trials. As advent genetic testing HD, it is possible identify gene carriers before diagnosis disease, which opens up possibility trials disease‐modifying treatments in clinically asymptomatic persons. Current endpoints were examined as part a multinational, 32‐site, longitudinal, observational 786 research currently prodrome...
This qualitative study identified four life trajectories that influenced the decision in young women to have genetic testing for mutations BRCA1/2 and subsequent risk reduction decisions after receiving a positive mutation result. Fifty nine between ages of 18-39 years were interviewed this grounded theory study, 44 those tested found either BRCA1 or BRCA2. Of with mutation, 23 had no history cancer 21 breast diagnosis. Analysis participants reducing related preceded testing. These included:...
This paper is a report of study conducted to examine the emotional experience caregiving by family carers people with Huntington disease and describe strategies they used deal that experience.Huntington disease, commonly diagnosed in young middle adulthood, an inherited single gene disorder involving loss cognitive, motor neuropsychiatric function. Many members become caregivers as well continuing parents wage earners. The aspects contribute mental health risks for members.Focus groups were...
A pattern of major and minor congenital anomalies, facial dysmorphic features, neurodevelopmental difficulties, including cognitive social impairments has been reported in some children exposed to sodium valproate (VPA) during pregnancy. Recognition the increased risks utero exposure VPA for malformations, effects particular, taken many years but these are now acknowledged following publication outcomes several prospective studies registries. As with other teratogens, can have variable...
Abstract Potential discrimination from genetic testing may undermine technological advances for health care. Researching long‐term consequences of conditions that lead to is a public priority. The generate social, health, and economic burdens society by diminishing opportunities at‐risk individuals in range contexts. current study objective was investigate perceptions stigmatization among persons who completed predictive Huntington's disease (HD). Using semi‐structured interviews...
Genetic discrimination-defined as the denial of rights, privileges, or opportunities other adverse treatment based solely on genetic information (including family history)-is an important concern to patients, healthcare professionals, lawmakers, and members at risk for carrying a deleterious gene. Data from United States, Canada, Australia were collected 433 individuals Huntington disease (HD) who have tested either positive negative gene that causes HD affected 50% developing disorder but...
The purpose of this report is to describe caregiving by teens for family members with Huntington disease (HD). Thirty-two in HD families the United States and Canada participated focus groups from 2002 2005 a study identify concerns strategies manage concerns. An unexpected finding was 24 (77%) described activities. Descriptive analysis statements identified themes Tasks Responsibilities, Subjective Burden, Caregiving Context Personal Risk HD, Decisional Responsibility. Teens took an active...
Abstract Genetic discrimination may be experienced in the day‐to‐day lives of people at risk for Huntington disease (HD), encompassing occurrences workplace, when seeking insurance, within social relationships, and during other daily encounters. At‐risk individuals who have tested either positive or negative genetic expansion that causes HD, as well at‐risk persons with a 50% chance developing disorder but not had DNA testing completed International RESPOND‐HD (I‐RESPOND‐HD) survey. One...
skirton h., williams j.k., barnette j.j. & paulsen j.s. (2010) Huntington disease: families’ experiences of healthcare services. Journal Advanced Nursing 66 (3), 500–510. Abstract Aim. This paper is a report study the perceptions family caregivers regarding availability and adequacy health social care services for their member with disease, to compare findings from these reports in United Kingdom States America samples. Background. disease an inherited neurodegenerative condition. Family...