Living with myotonic dystrophy; what can be learned from couples? a qualitative study

Contains fulltext : 96062.pdf (publisher's version ) (Open Access)BACKGROUND: Myotonic dystrophy type 1 (MD1) is one of the most prevalent neuromuscular diseases, yet very little is known about how MD1 affects the lives of couples and how they themselves manage individually and together. To better match health care to their problems, concerns and needs, it is important to understand their perspective of living with this hereditary, systemic disease. METHODS: A qualitative study was carried out with a purposive sample of five middle-aged couples, including three men and two women with MD1 and their partners. Fifteen in-depth interviews with persons with MD1, with their partners and with both of them as a couple took place in the homes of the couples in two cities and three villages in the Netherlands in 2009. Results : People with MD1 associate this progressive, neuromuscular condition with decreasing abilities, describing physical, cognitive and psychosocial barriers to everyday activities and social participation. Partners highlighted the increasing care giving burden, giving directions and using reminders to compensate for the lack of initiative and avoidant behaviour due to MD1. Couples portrayed the dilemmas and frustrations of renegotiating roles and responsibilities; stressing the importance of achieving a balance between individual and shared activities. All participants experienced a lack of understanding from relatives, friends, and society, including health care, leading to withdrawal and isolation. Health care was perceived as fragmentary, with specialists focusing on specific aspects of the disease rather than seeking to understand the implications of the systemic disorder on daily life. CONCLUSIONS: Learning from these couples has resulted in recommendations that challenge the tendency to treat MD1 as a condition with primarily physical impairments. It is vital to listen to couples, to elicit the impact of MD1, as a multisystem disorder that influences every aspect of their life together. Couple management, supporting the self-management skills of both partners is proposed as a way of reducing the mismatch between health services and health needs

The Impact of Thyroid Cancer and Post-Surgical Radioactive Iodine Treatment on the Lives of Thyroid Cancer Survivors: A Qualitative Study

BACKGROUND: Adjuvant treatment with radioactive iodine (RAI) is often considered in the treatment of well-differentiated thyroid carcinoma (WDTC). We explored the recollections of thyroid cancer survivors on the diagnosis of WDTC, adjuvant radioactive iodine (RAI) treatment, and decision-making related to RAI treatment. Participants provided recommendations for healthcare providers on counseling future patients on adjuvant RAI treatment. METHODS: We conducted three focus group sessions, including WDTC survivors recruited from two Canadian academic hospitals. Participants had a prior history of WDTC that was completely resected at primary surgery and had been offered adjuvant RAI treatment. Open-ended questions were used to generate discussion in the groups. Saturation of major themes was achieved among the groups. FINDINGS: There were 16 participants in the study, twelve of whom were women (75%). All but one participant had received RAI treatment (94%). Participants reported that a thyroid cancer diagnosis was life-changing, resulting in feelings of fear and uncertainty. Some participants felt dismissed as not having a serious disease. Some participants reported receiving conflicting messages from healthcare providers on the appropriateness of adjuvant RAI treatment or insufficient information. If RAI-related side effects occurred, their presence was not legitimized by some healthcare providers. CONCLUSIONS: The diagnosis and treatment of thyroid cancer significantly impacts the lives of survivors. Fear and uncertainty related to a cancer diagnosis, feelings of the diagnosis being dismissed as not serious, conflicting messages about adjuvant RAI treatment, and treatment-related side effects, have been raised as important concerns by thyroid cancer survivors

Landscape of somatic mutations in 560 breast cancer whole-genome sequences.

We analysed whole-genome sequences of 560 breast cancers to advance understanding of the driver mutations conferring clonal advantage and the mutational processes generating somatic mutations. We found that 93 protein-coding cancer genes carried probable driver mutations. Some non-coding regions exhibited high mutation frequencies, but most have distinctive structural features probably causing elevated mutation rates and do not contain driver mutations. Mutational signature analysis was extended to genome rearrangements and revealed twelve base substitution and six rearrangement signatures. Three rearrangement signatures, characterized by tandem duplications or deletions, appear associated with defective homologous-recombination-based DNA repair: one with deficient BRCA1 function, another with deficient BRCA1 or BRCA2 function, the cause of the third is unknown. This analysis of all classes of somatic mutation across exons, introns and intergenic regions highlights the repertoire of cancer genes and mutational processes operating, and progresses towards a comprehensive account of the somatic genetic basis of breast cancer

Catch-per-unit-effort: which estimator is best?

In this paper we examine the accuracy and precision of three indices of catch-per-unit-effort (CPUE). We carried out simulations, generating catch data according to six probability distributions (normal, Poisson, lognormal, gamma, delta and negative binomial), three variance structures (constant, proportional to effort and proportional to the squared effort) and their magnitudes (tail weight). The Jackknife approach of the index is recommended, whenever catch is proportional to effort or even under small deviations from proportionality assumption, when a ratio estimator is to be applied and little is known about the underlying behaviour of variables, as is the case for most fishery studies

Catch-per-unit-effort: which estimator is best? Captura por unidade de esforço: qual estimador é melhor?

In this paper we examine the accuracy and precision of three indices of catch-per-unit-effort (CPUE). We carried out simulations, generating catch data according to six probability distributions (normal, Poisson, lognormal, gamma, delta and negative binomial), three variance structures (constant, proportional to effort and proportional to the squared effort) and their magnitudes (tail weight). The Jackknife approach of the index is recommended, whenever catch is proportional to effort or even under small deviations from proportionality assumption, when a ratio estimator is to be applied and little is known about the underlying behaviour of variables, as is the case for most fishery studies.<br>Neste trabalho, examinamos a acurácia e precisão de três índices de captura por unidade de esforço (CPUE). Foram feitas simulações, nas quais foram gerados dados de captura de acordo com seis distribuições de probabilidade (normal, Poisson, lognormal, gama, delta e binomial negativa), três estruturas de variância (constante, proporcional ao esforço e proporcional ao quadrado do esforço), e magnitudes (tail weight). É recomendado o uso do método Jackknife para os índices, sempre que a captura for proporcional ao esforço ou até em casos de pequenos desvios do pressuposto de proporcionalidade, quando se deseja utilizar um estimador de razão e pouco é conhecido sobre o real comportamento das variáveis, como é o caso da maioria dos estudos de pesca

Catch-per-unit-effort: which estimator is best?

In this paper we examine the accuracy and precision of three indices of catch-per-unit-effort (CPUE). We carried out simulations, generating catch data according to six probability distributions (normal, Poisson, lognormal, gamma, delta and negative binomial), three variance structures (constant, proportional to effort and proportional to the squared effort) and their magnitudes (tail weight). The Jackknife approach of the index is recommended, whenever catch is proportional to effort or even under small deviations from proportionality assumption, when a ratio estimator is to be applied and little is known about the underlying behaviour of variables, as is the case for most fishery studies