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1.
Behav Cogn Psychother ; 51(1): 74-86, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-36281883

RESUMEN

BACKGROUND: Personal practice (PP) is often considered as a central component in psychotherapy training aiming to promote personal and therapeutic competences. However, its implementation varies considerably in practice. AIMS: The purpose of this exploratory study was to examine the current practice of PP regarding the frequency/occurrence and perceived usefulness/impairment of topics, techniques and effects, as well as its helpful characteristics in psychotherapy training. METHOD: 407 German psychotherapy trainees (214 cognitive behavioural therapy; 178 psychodynamic therapy) were surveyed online as to their current practice of PP. RESULTS: For trainees, personal and therapeutic related topics were discussed. Reflection techniques and self-experiential practice were among the most frequently reported strategies, while the fostering of personal and interpersonal competences was among the effects with the strongest occurrence. However, negative PP effects were recorded as well. Differences in PP practice emerged between therapeutic orientations. CONCLUSIONS: As certain techniques which are central to PP (e.g. self-experience) were also rarely or not used, and negative effects reported, its potential might not be fully utilized.

2.
Psychother Res ; 33(3): 374-386, 2023 03.
Artículo en Inglés | MEDLINE | ID: mdl-35847994

RESUMEN

Despite increasing research on psychotherapy preferences, the preferences of psychotherapy trainees are largely unknown. Moreover, differences in preferences between trainees and their patients could (a) hinder symptom improvement and therapy success for patients and (b) represent significant obstacles in the early career and development of future therapists.We compared the preferences of n = 466 psychotherapy trainees to those of n = 969 laypersons using the Cooper-Norcross Inventory of Preferences. Moreover, we compared preferences between trainees in cognitive-behavioural therapy (CBT) and psychodynamic trainees.We found significant differences between both samples in 13 of 18 items, and three of four subscales. Psychotherapy trainees preferred less therapist directiveness (d = 0.58), more emotional intensity (d = 0.74), as well as more focused challenge (d = 0.35) than laypeople. CBT trainees preferred more therapist directiveness (d = 2.00), less emotional intensity (d = 0.51), more present orientation (d = 0.76) and more focused challenge (d = 0.33) than trainees in psychodynamic/psychoanalytic therapy.Overall, the results underline the importance of implementing preference assessment and discussion during psychotherapy training. Moreover, therapists of different orientations seem to cover a large range of preferences for patients, in order to choose the right fit.


Asunto(s)
Terapia Cognitivo-Conductual , Terapia Psicoanalítica , Humanos , Psicoterapia/métodos , Terapia Cognitivo-Conductual/educación , Emociones
3.
Part Fibre Toxicol ; 19(1): 21, 2022 03 23.
Artículo en Inglés | MEDLINE | ID: mdl-35321750

RESUMEN

BACKGROUND: The oral uptake of nanoparticles is an important route of human exposure and requires solid models for hazard assessment. While the systemic availability is generally low, ingestion may not only affect gastrointestinal tissues but also intestinal microbes. The gut microbiota contributes essentially to human health, whereas gut microbial dysbiosis is known to promote several intestinal and extra-intestinal diseases. Gut microbiota-derived metabolites, which are found in the blood stream, serve as key molecular mediators of host metabolism and immunity. RESULTS: Gut microbiota and the plasma metabolome were analyzed in male Wistar rats receiving either SiO2 (1000 mg/kg body weight/day) or Ag nanoparticles (100 mg/kg body weight/day) during a 28-day oral gavage study. Comprehensive clinical, histopathological and hematological examinations showed no signs of nanoparticle-induced toxicity. In contrast, the gut microbiota was affected by both nanoparticles, with significant alterations at all analyzed taxonomical levels. Treatments with each of the nanoparticles led to an increased abundance of Prevotellaceae, a family with gut species known to be correlated with intestinal inflammation. Only in Ag nanoparticle-exposed animals, Akkermansia, a genus known for its protective impact on the intestinal barrier was depleted to hardly detectable levels. In SiO2 nanoparticles-treated animals, several genera were significantly reduced, including probiotics such as Enterococcus. From the analysis of 231 plasma metabolites, we found 18 metabolites to be significantly altered in Ag-or SiO2 nanoparticles-treated rats. For most of these metabolites, an association with gut microbiota has been reported previously. Strikingly, both nanoparticle-treatments led to a significant reduction of gut microbiota-derived indole-3-acetic acid in plasma. This ligand of the arylhydrocarbon receptor is critical for regulating immunity, stem cell maintenance, cellular differentiation and xenobiotic-metabolizing enzymes. CONCLUSIONS: The combined profiling of intestinal microbiome and plasma metabolome may serve as an early and sensitive indicator of gut microbiome changes induced by orally administered nanoparticles; this will help to recognize potential adverse effects of these changes to the host.


Asunto(s)
Microbioma Gastrointestinal , Nanopartículas del Metal , Animales , Peso Corporal , Masculino , Metaboloma , Nanopartículas del Metal/toxicidad , Ratas , Ratas Wistar , Dióxido de Silicio/toxicidad , Plata
4.
Health Expect ; 25(1): 232-244, 2022 02.
Artículo en Inglés | MEDLINE | ID: mdl-34708487

RESUMEN

PURPOSE: The aim of this study was to develop a patient decision aid (pDA) that could support patients with breast cancer (BC) in making an informed decision about breast reconstruction (BR) after mastectomy. METHODS: The development included four stages: (i) Establishment of a multidisciplinary team; (ii) Needs assessment consisting of semi-structured interviews in patients and a survey among healthcare professionals (HCPs); (iii) Creation of content, design and technical system; and (iv) Acceptability and usability testing using a think-aloud approach in patients and interviews among HCPs and representatives of the Dutch Breast Cancer Patient Organization. RESULTS: From the needs assessment, three themes were identified: Challenging period to make a decision, Diverse motivations for a personal decision and Information needed to make a decision about BR. HCPs valued the development of a pDA, especially to prepare patients for consultation. The pDA that was developed contained three parts: first, a consultation sheet for oncological breast surgeons to introduce the choice; second, an online tool including an overview of reconstructive options, the pros and cons of each option, information on the consequences of each option for daily life, exercises to clarify personal values and patient stories; and third, a summary sheet with patients' values, preferences and questions to help inform and guide the discussion between the patient and her plastic surgeon. The pDA was perceived to be informative, helpful and easy to use by patients and HCPs. CONCLUSION: Consistent with information needs, a pDA was developed to support patients with BC who consider immediate BR in making an informed decision together with their plastic surgeon. PATIENT OR PUBLIC CONTRIBUTION: Patients participated in the needs assessment and in acceptability and usability testing.


Asunto(s)
Neoplasias de la Mama , Técnicas de Apoyo para la Decisión , Mamoplastia , Neoplasias de la Mama/cirugía , Toma de Decisiones , Femenino , Humanos , Mastectomía , Motivación
5.
PLoS Genet ; 15(3): e1007873, 2019 03.
Artículo en Inglés | MEDLINE | ID: mdl-30889179

RESUMEN

Autosomal recessive retinal degenerative diseases cause visual impairment and blindness in both humans and dogs. Currently, no standard treatment is available, but pioneering gene therapy-based canine models have been instrumental for clinical trials in humans. To study a novel form of retinal degeneration in Labrador retriever dogs with clinical signs indicating cone and rod degeneration, we used whole-genome sequencing of an affected sib-pair and their unaffected parents. A frameshift insertion in the ATP binding cassette subfamily A member 4 (ABCA4) gene (c.4176insC), leading to a premature stop codon in exon 28 (p.F1393Lfs*1395), was identified. In contrast to unaffected dogs, no full-length ABCA4 protein was detected in the retina of an affected dog. The ABCA4 gene encodes a membrane transporter protein localized in the outer segments of rod and cone photoreceptors. In humans, the ABCA4 gene is associated with Stargardt disease (STGD), an autosomal recessive retinal degeneration leading to central visual impairment. A hallmark of STGD is the accumulation of lipofuscin deposits in the retinal pigment epithelium (RPE). The discovery of a canine homozygous ABCA4 loss-of-function mutation may advance the development of dog as a large animal model for human STGD.


Asunto(s)
Miembro 4 de la Subfamilia A de Transportadores de Casetes de Unión al ATP/genética , Enfermedades de los Perros/genética , Degeneración Macular/congénito , Mutación , Miembro 4 de la Subfamilia A de Transportadores de Casetes de Unión al ATP/química , Miembro 4 de la Subfamilia A de Transportadores de Casetes de Unión al ATP/metabolismo , Transportadoras de Casetes de Unión a ATP/genética , Secuencia de Aminoácidos , Animales , Secuencia de Bases , Codón sin Sentido , Modelos Animales de Enfermedad , Enfermedades de los Perros/metabolismo , Enfermedades de los Perros/patología , Perros , Femenino , Genes Recesivos , Homocigoto , Humanos , Lipofuscina/metabolismo , Degeneración Macular/genética , Degeneración Macular/metabolismo , Degeneración Macular/veterinaria , Masculino , Microscopía Fluorescente , Modelos Moleculares , Mutagénesis Insercional , Linaje , Conformación Proteica , Retina/metabolismo , Retina/patología , Enfermedad de Stargardt , Secuenciación Completa del Genoma
6.
Behav Cogn Psychother ; 50(1): 28-39, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-34569462

RESUMEN

BACKGROUND: Personal practice (PP) is an integral component of many psychotherapy training programmes. It aims to promote personal and professional growth and is often conducted in a group format (g-PP). Group cohesion is one of the most researched mechanisms in group psychotherapy, but has rarely been studied in the context of g-PP. AIMS AND METHOD: This exploratory study examines the associations between cohesion, satisfaction with g-PP, its impact on personal and professional development, and theoretical orientation in a sample of n = 329 German psychotherapy trainees. Cohesion was assessed with the group questionnaire (GQ-D; Positive Bonding, Positive Working, Negative Relationship). RESULTS: Overall, participants reported high levels of all outcome variables. Positive Bonding was the strongest predictor of satisfaction with g-PP (ß = 0.46, p<.001). While trainees in cognitive behaviour therapy reported significantly better cohesion scores (d≥0.31), trainees in psychodynamic therapy reported significantly higher satisfaction with g-PP and its impact on their developments (d≥0.30). CONCLUSIONS: Group cohesion appears to be an important factor in g-PP that should be actively promoted by group leaders. However, longitudinal study designs are needed to better understand the emergence of cohesion in g-PP as well as potential moderating factors.


Asunto(s)
Terapia Cognitivo-Conductual , Psicoterapia de Grupo , Humanos , Estudios Longitudinales , Psicoterapia , Cohesión Social
7.
Semin Musculoskelet Radiol ; 25(2): 274-276, 2021 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-34082453

RESUMEN

Robert Kienböck (1871-1953) may be regarded as one of the first musculoskeletal radiologists who began his clinical and scientific work 2 years after the discovery of X-rays. He lent his name to Kienböck's disease, a traumatic malacia and osteonecrosis of the lunate, and to several other eponyms of diseases, devices, and parameters in radiology and radiation oncology. With his meticulous analysis of radiographic images of the highest quality, he anticipated many theories that were proposed in later decades.


Asunto(s)
Hueso Semilunar , Osteonecrosis , Radiología , Humanos , Masculino , Osteonecrosis/diagnóstico por imagen , Radiografía , Radiólogos
8.
Microb Cell Fact ; 19(1): 221, 2020 Dec 03.
Artículo en Inglés | MEDLINE | ID: mdl-33272255

RESUMEN

BACKGROUND: Exocrine pancreatic insufficiency (EPI) is characterized by the loss of active pancreatic enzymes and a resulting severely reduced food digestion. EPI therapy requires orally applied pancreatic enzyme replacement. The gut microbiome is a known mediator of intestinal diseases and may influence the outcome of EPI and the effects of a pancreatic enzyme replacement therapy (PERT). Here, we analyzed the effects of EPI and PERT on the gut microbiome in the model of pancreatic duct ligated minipigs. RESULTS: The microbial community composition in pig feces was analyzed by next generation sequencing of 16S rRNA amplicons. The data were evaluated for α- and ß-diversity changes and changes at the different Operational Taxonomic Unit (OTU) levels by Shannon-Wiener and inverse Simpson index calculation as well as by Principal Coordinates Analysis based on Bray-Curtis dissimilarity. Microbial α-diversity was reduced after EPI induction and reverted to nearly healthy state after PERT. Analysis of microbial composition and ß-diversity showed distinctive clusters of the three study groups and a change towards a composition comparable to healthy animals upon PERT. The relative abundance of possible pathobionts like Escherichia/Shigella, Acinetobacter or Stenotrophomonas was reduced by PERT. CONCLUSION: These data demonstrate that EPI-induced dysbiosis could be reverted by PERT to a nearly healthy state. Elevated α-diversity and the reduction of bacterial overgrowth after PERT promises benefits for EPI patients. Non-invasive microbiome studies may be useful for EPI therapy monitoring and as marker for response to PERT.


Asunto(s)
Bacterias/crecimiento & desarrollo , Terapia de Reemplazo Enzimático , Insuficiencia Pancreática Exocrina/tratamiento farmacológico , Microbioma Gastrointestinal , Páncreas Exocrino/enzimología , Animales , Bacterias/clasificación , Bacterias/genética , Modelos Animales de Enfermedad , Insuficiencia Pancreática Exocrina/microbiología , Heces/microbiología , Femenino , Humanos , ARN Ribosómico 16S , Porcinos , Porcinos Enanos
9.
Genes Dev ; 26(21): 2408-21, 2012 Nov 01.
Artículo en Inglés | MEDLINE | ID: mdl-23124065

RESUMEN

Brr2p is one of eight RNA helicases involved in pre-mRNA splicing. Detailed understanding of the functions of Brr2p and other spliceosomal helicases has been limited by lack of knowledge of their in vivo substrates. To address this, sites of direct Brr2p-RNA interaction were identified by in vivo UV cross-linking in budding yeast. Cross-links identified in the U4 and U6 small nuclear RNAs (snRNAs) suggest U4/U6 stem I as a Brr2p substrate during spliceosome activation. Further Brr2p cross-links were identified in loop 1 of the U5 snRNA and near splice sites and 3' ends of introns, suggesting the possibility of a previously uncharacterized function for Brr2p in the catalytic center of the spliceosome. Consistent with this, mutant brr2-G858R reduced second-step splicing efficiency and enhanced cross-linking to 3' ends of introns. Furthermore, RNA sequencing indicated preferential inhibition of splicing of introns with structured 3' ends. The Brr2-G858Rp cross-linking pattern in U6 was consistent with an open conformation for the catalytic center of the spliceosome during first-to-second-step transition. We propose a previously unsuspected function for Brr2p in driving conformational rearrangements that lead to competence for the second step of splicing.


Asunto(s)
ARN Helicasas/química , ARN Helicasas/metabolismo , Proteínas de Saccharomyces cerevisiae/química , Saccharomyces cerevisiae/enzimología , Empalmosomas/enzimología , Activación Enzimática , Unión Proteica , Conformación Proteica , ARN Helicasas/genética , Empalme del ARN , ARN de Hongos/metabolismo , ARN Nuclear Pequeño/metabolismo , Saccharomyces cerevisiae/genética , Proteínas de Saccharomyces cerevisiae/genética , Proteínas de Saccharomyces cerevisiae/metabolismo
10.
J Sex Marital Ther ; 45(2): 91-102, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-30040589

RESUMEN

As part of a larger, randomized controlled trial, we evaluated longitudinally the sexual functioning and relationship satisfaction of 69 partners of breast cancer (BC) survivors who received Internet-based cognitive behavioral therapy (CBT) for sexual dysfunction. The findings suggest that Internet-based CBT positively affects the partners' immediate post-CBT and longer-term overall sexual satisfaction, sexual intimacy, and sexual relationship satisfaction. No sustained changes in other areas of sexual functioning were observed. Our CBT program was focused primarily on the sexual health of the BC survivors. We recommend that future programs include more psychoeducational and behavioral elements targeted at the partners.


Asunto(s)
Neoplasias de la Mama/psicología , Terapia Cognitivo-Conductual/métodos , Satisfacción Personal , Parejas Sexuales/psicología , Terapia Asistida por Computador/métodos , Adulto , Neoplasias de la Mama/terapia , Supervivientes de Cáncer/psicología , Femenino , Humanos , Internet , Masculino , Persona de Mediana Edad
11.
BMC Med Inform Decis Mak ; 19(1): 165, 2019 08 19.
Artículo en Inglés | MEDLINE | ID: mdl-31426772

RESUMEN

BACKGROUND: Most breast cancer patients undergoing mastectomy are candidates for breast reconstruction. Deciding about breast reconstruction is complex and the preference-sensitive nature of this decision requires an approach of shared decision making between patient and doctor. Women considering breast reconstruction have expressed a need for decision support. We developed an online patient decision aid (pDA) to support decision making in women considering immediate breast reconstruction. The primary aim of this study is to assess the impact of the pDA in reducing decisional conflict, and more generally, on the decision-making process and the decision quality. Additionally, we will investigate the pDA's impact on health outcomes, explore predictors, and assess its cost-effectiveness. METHODS: A multicenter, two-armed randomized controlled trial (1:1) will be conducted. Women with breast cancer or ductal carcinoma in situ who will undergo a mastectomy and are eligible for immediate breast reconstruction will be invited to participate. The intervention group will receive access to the online pDA, whereas the control group will receive a widely available free information leaflet on breast reconstruction. Participants will complete online questionnaires at: baseline (T0), 1 week after consultation with a plastic surgeon (T1), and 3 (T2) and 12 months (T3) after surgery. The primary outcome is decisional conflict. Secondary outcomes include other measures reflecting the decision-making process and decision quality (e.g., decision regret), patient-reported health outcomes (e.g., satisfaction with the breasts) and costs. DISCUSSION: This study will provide evidence about the impact of an online pDA for women who will undergo mastectomy and are deciding about breast reconstruction. It will contribute to the knowledge on how to optimally support women in making this difficult decision. TRIAL REGISTRATION: This study is retrospectively registered at ClinicalTrials.gov ( NCT03791138 ).


Asunto(s)
Neoplasias de la Mama/cirugía , Carcinoma Intraductal no Infiltrante/cirugía , Técnicas de Apoyo para la Decisión , Mamoplastia , Mastectomía , Neoplasias de la Mama/psicología , Carcinoma Intraductal no Infiltrante/psicología , Protocolos Clínicos , Análisis Costo-Beneficio , Toma de Decisiones , Femenino , Humanos , Persona de Mediana Edad , Participación del Paciente , Derivación y Consulta , Estudios Retrospectivos , Encuestas y Cuestionarios
12.
J Sex Marital Ther ; 44(5): 485-496, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-29297781

RESUMEN

The study aim was to evaluate the long-term efficacy of Internet-based cognitive behavioral therapy (CBT) for sexual dysfunctions in 84 breast cancer survivors. The positive effects of the intervention on overall sexual functioning, sexual desire, sexual arousal, vaginal lubrication, discomfort during sex, sexual distress, and body image observed immediately posttreatment were maintained at three- and nine-month follow-ups. Although sexual pleasure decreased during follow-up, it did not return to baseline levels. Our findings provide evidence that Internet-based CBT has a sustained, positive effect on sexual functioning and body image of breast cancer survivors with a sexual dysfunction.


Asunto(s)
Supervivientes de Cáncer/psicología , Terapia Cognitivo-Conductual/métodos , Libido , Disfunciones Sexuales Fisiológicas/terapia , Disfunciones Sexuales Psicológicas/terapia , Adulto , Imagen Corporal , Femenino , Humanos , Persona de Mediana Edad , Conducta Sexual , Disfunciones Sexuales Fisiológicas/etiología , Disfunciones Sexuales Fisiológicas/psicología , Disfunciones Sexuales Psicológicas/etiología , Disfunciones Sexuales Psicológicas/psicología , Encuestas y Cuestionarios , Resultado del Tratamiento
13.
J Sex Med ; 14(10): 1248-1259, 2017 10.
Artículo en Inglés | MEDLINE | ID: mdl-28923310

RESUMEN

BACKGROUND: Many women develop sexual problems after breast cancer (BC) treatment. Little is known about BC survivors with a Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV) sexual dysfunction and their partners, and the factors associated with their sexual functioning. AIM: To evaluate (i) patient-related and clinical factors associated with (a) specific DSM-IV sexual dysfunctions and (b) level of sexual functioning and sexual distress as reported by BC survivors and (ii) the association between the sexual functioning of BC survivors and that of their partners. METHODS: We analyzed baseline data from a study of the efficacy of online cognitive-behavioral therapy for sexual dysfunction in BC survivors. OUTCOMES: Women completed self-report questionnaires assessing sexual functioning, sexual distress, relationship intimacy, marital functioning, menopausal symptoms, body image, and psychological distress. Their partners completed questionnaires assessing sexual functioning. RESULTS: The study included 169 BC survivors and 67 partners. The most prevalent female sexual dysfunctions were hypoactive sexual desire disorder (HSDD; 83%), sexual arousal disorder (40%), and dyspareunia (33%). Endocrine therapy was associated with HSDD (P = .003), and immunotherapy was associated with dyspareunia (P = .009). Older age was associated with lower sexual distress (P < .001). Depressive symptoms were highest in women with sexual arousal disorder (P = .004). An indication for erectile disorder was present in two thirds of partners. Lower overall partner sexual satisfaction was associated with lower overall BC survivor sexual functioning (P = .001), lower female arousal (P = .002), and lower female sexual satisfaction (P = .001). Poorer male erectile function was related to higher female sexual pain (P = .006). Partners of women who underwent breast reconstruction reported marginally significantly better orgasmic functioning (P = .012) and overall sexual functioning (P = .015) than partners of women who had undergone breast-conserving treatment. CLINICAL IMPLICATIONS: BC survivors and their partners experience sexual problems after BC treatment. This suggests that not only the BC survivor but also her partner could benefit from sexual counseling. STRENGTHS AND LIMITATIONS: This is the first study focusing on BC survivors with a DSM-IV sexual dysfunction and their partners. The results cannot necessarily be generalized to women experiencing milder sexual problems or who have no interest in receiving sexual counseling. CONCLUSION: Endocrine therapy and immunotherapy are relevant risk factors for HSDD and dyspareunia in BC survivors. The sexual functioning of women and their partners is affected, underscoring the importance of involving both partners in sexual counseling after BC treatment. Hummel SB, Hahn DEE, van Lankveld JJDM, et al. Factors Associated With Specific Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition Sexual Dysfunctions in Breast Cancer Survivors: A Study of Patients and Their Partners. J Sex Med 2017;14:1248-1259.


Asunto(s)
Neoplasias de la Mama/psicología , Supervivientes de Cáncer/psicología , Dispareunia/psicología , Disfunciones Sexuales Fisiológicas/psicología , Disfunciones Sexuales Psicológicas/psicología , Adulto , Anciano , Neoplasias de la Mama/complicaciones , Manual Diagnóstico y Estadístico de los Trastornos Mentales , Dispareunia/etiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Orgasmo , Conducta Sexual/psicología , Disfunciones Sexuales Fisiológicas/etiología , Disfunciones Sexuales Psicológicas/etiología , Parejas Sexuales/psicología , Encuestas y Cuestionarios
14.
J Surg Oncol ; 116(8): 1029-1039, 2017 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-28703900

RESUMEN

BACKGROUND: Rapid genetic counseling and testing (RGCT) in newly diagnosed high-risk breast cancer (BC) patients may influence surgical treatment decisions. To successfully integrate RGCT in practice, knowledge of professionals', and patients' attitudes toward RGCT is essential. METHODS: Between 2008 and 2010, we performed a randomized clinical trial evaluating the impact of RGCT. Attitudes toward and experience with RGCT were assessed in 265 patients (at diagnosis, 6- and 12-month follow-up) and 29 medical professionals (before and after the recruitment period). RESULTS: At 6-month follow-up, more patients who had been offered RGCT felt they had been actively involved in treatment decision-making than patients who had been offered usual care (67% vs 48%, P = 0.06). Patients who received DNA-test results before primary surgery reported more often that RGCT influenced treatment decisions than those who received results afterwards (P < 0.01). Eighty-seven percent felt that genetic counseling and testing (GCT) should preferably take place between diagnosis and surgery. Most professionals (72%) agreed that RGCT should be routinely offered to eligible patients. Most patients (74%) and professionals (85%) considered surgeons the most appropriate source for referral. CONCLUSIONS: RGCT is viewed as helpful for newly diagnosed high-risk BC patients in choosing their primary surgery and should be offered routinely by surgeons.


Asunto(s)
Actitud del Personal de Salud , Neoplasias de la Mama/genética , Asesoramiento Genético , Pruebas Genéticas , Adulto , Anciano , Neoplasias de la Mama/terapia , Toma de Decisiones , Femenino , Humanos , Masculino , Persona de Mediana Edad , Derivación y Consulta
15.
Genet Med ; 18(2): 137-44, 2016 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-25905441

RESUMEN

PURPOSE: Female breast cancer patients carrying a BRCA1/2 mutation have an increased risk of second primary breast cancer. Rapid genetic counseling and testing (RGCT) before surgery may influence choice of primary surgical treatment. In this article, we report on the psychosocial impact of RGCT. METHODS: Newly diagnosed breast cancer patients at risk for carrying a BRCA1/2 mutation were randomized to an intervention group (offer of RGCT) or a usual care control group (ratio 2:1). Psychosocial impact and quality of life were assessed with the Impact of Events Scale, Hospital Anxiety and Depression Scale, Cancer Worry Scale, and the EORTC QLQ-C30 and QLQ-BR23. Assessments took place at study entry and at 6- and 12-month follow-up visits. RESULTS: Between 2008 and 2010, 265 patients were recruited into the study. Completeness of follow-up data was more than 90%. Of the 178 women in the intervention group, 177 had genetic counseling, of whom 71 (40%) had rapid DNA testing and 59 (33%) received test results before surgery. Intention-to-treat and per-protocol analyses showed no statistically significant differences between groups over time in any of the psychosocial outcomes. CONCLUSIONS: In this study, RGCT in newly diagnosed breast cancer patients did not have any measurable adverse psychosocial effects.


Asunto(s)
Neoplasias de la Mama/psicología , Asesoramiento Genético/psicología , Pruebas Genéticas , Adulto , Anciano , Neoplasias de la Mama/diagnóstico , Femenino , Genes BRCA1 , Genes BRCA2 , Humanos , Persona de Mediana Edad , Factores de Tiempo , Adulto Joven
16.
Nucleic Acids Res ; 42(22): 13897-910, 2014 Dec 16.
Artículo en Inglés | MEDLINE | ID: mdl-25428373

RESUMEN

RNA helicases are essential for virtually all cellular processes, however, their regulation is poorly understood. The activities of eight RNA helicases are required for pre-mRNA splicing. Amongst these, Brr2p is unusual in having two helicase modules, of which only the amino-terminal helicase domain appears to be catalytically active. Using genetic and biochemical approaches, we investigated interaction of the carboxy-terminal helicase module, in particular the carboxy-terminal Sec63-2 domain, with the splicing RNA helicase Prp16p. Combining mutations in BRR2 and PRP16 suppresses or enhances physical interaction and growth defects in an allele-specific manner, signifying functional interactions. Notably, we show that Brr2p Sec63-2 domain can modulate the ATPase activity of Prp16p in vitro by interfering with its ability to bind RNA. We therefore propose that the carboxy-terminal helicase module of Brr2p acquired a regulatory function that allows Brr2p to modulate the ATPase activity of Prp16p in the spliceosome by controlling access to its RNA substrate/cofactor.


Asunto(s)
Adenosina Trifosfatasas/metabolismo , ARN Helicasas/metabolismo , Proteínas de Saccharomyces cerevisiae/metabolismo , Adenosina Trifosfatasas/genética , Alelos , ARN Helicasas DEAD-box/metabolismo , Calor , Intrones , Mutación , Estructura Terciaria de Proteína , ARN/metabolismo , ARN Helicasas/química , ARN Helicasas/genética , Empalme del ARN , Factores de Empalme de ARN , Ribonucleoproteínas Nucleares Pequeñas/química , Proteínas de Saccharomyces cerevisiae/química , Proteínas de Saccharomyces cerevisiae/genética
17.
BMC Cancer ; 15: 321, 2015 Apr 28.
Artículo en Inglés | MEDLINE | ID: mdl-25927495

RESUMEN

BACKGROUND: Sexual dysfunction is a prevalent, long-term complication of breast cancer and its treatment and can be treated effectively with face-to-face sexual counselling. However, relatively few women actually opt for face-to-face sex therapy, with many women indicating that it is too confronting. Internet-based interventions might be a less threatening and more acceptable approach, because of the convenience, accessibility and privacy it provides. Recent studies have demonstrated the efficacy of internet-based programs for improving sexual functioning in the general population. The objective of the current study is to investigate the efficacy of an internet-based cognitive behavioral therapy (CBT) program in alleviating problems with sexuality and intimacy in women who have been treated for breast cancer. METHODS/DESIGN: In a multicenter, randomized controlled trial we are evaluating the efficacy of an internet-based CBT program in reducing problems with sexuality and intimacy in breast cancer survivors. Secondary outcomes include body image, marital functioning, psychological distress, menopausal symptoms, and health-related quality of life. We will recruit 160 breast cancer survivors (aged 18-65 years) with a formal DSM-IV diagnosis of sexual dysfunction from general and academic hospitals in the Netherlands. Women are randomized to either an intervention or waiting-list control group. Self-report questionnaires are completed by the intervention group at baseline (T0), ten weeks after start of therapy (T1), post-treatment (T2), 3 months post-treatment (T3), and 9 months post-treatment (T4). The control group completes questionnaires at T0, T1 and T2. DISCUSSION: There is a need for accessible and effective interventions for the treatment of sexual dysfunctions in breast cancer survivors. This study will provide evidence about the efficacy of an internet-based approach to delivering a CBT intervention targeted specifically at these sexual health issues. If proven to be effective, internet-based CBT for problems with sexuality and intimacy will be a welcome addition to the care offered to breast cancer survivors. Hopefully this therapy will lower the barrier to seeking help for these problems, resulting in improved quality of life after breast cancer. TRIAL REGISTRATION: The study is registered at ClinicalTrials.gov (NCT02091765).


Asunto(s)
Neoplasias de la Mama/psicología , Terapia Cognitivo-Conductual , Conducta Sexual/psicología , Disfunciones Sexuales Fisiológicas/terapia , Adolescente , Adulto , Anciano , Neoplasias de la Mama/complicaciones , Neoplasias de la Mama/fisiopatología , Neoplasias de la Mama/terapia , Femenino , Humanos , Internet , Persona de Mediana Edad , Países Bajos , Conducta Sexual/fisiología , Disfunciones Sexuales Fisiológicas/complicaciones , Disfunciones Sexuales Fisiológicas/fisiopatología , Encuestas y Cuestionarios , Resultado del Tratamiento
18.
BMC Cancer ; 14: 26, 2014 Jan 15.
Artículo en Inglés | MEDLINE | ID: mdl-24428912

RESUMEN

BACKGROUND: Individuals with a personal or family history of cancer, can opt for genetic counseling and DNA-testing. Approximately 25% of these individuals experience clinically relevant levels of psychosocial distress, depression and/or anxiety after counseling. These problems are frequently left undetected by genetic counselors. The aim of this study is to evaluate the efficacy of a cancer genetics-specific screening questionnaire for psychosocial problems, the 'Psychosocial Aspects of Hereditary Cancer (PAHC) questionnaire' together with the Distress Thermometer, in: (1) facilitating personalized counselor-counselee communication; (2) increasing counselors' awareness of their counselees' psychosocial problems; and (3) facilitating the management of psychosocial problems during and after genetic counseling. METHODS: This multicenter, randomized controlled trial will include 264 individuals undergoing cancer genetic counseling in two family cancer clinics in the Netherlands. Participants will be randomized to either: (1) an intervention group that completes the PAHC questionnaire, the results of which are made available to the genetic counselor prior to the counseling session; or (2) a control group that completes the PAHC questionnaire, but without feedback being given to the genetic counselor. The genetic counseling sessions will be audiotaped for content analysis. Additionally, study participants will be asked to complete questionnaires at baseline, three weeks after the initial counseling session, and four months after a telephone follow-up counseling session. The genetic counselors will be asked to complete questionnaires at the start of and at completion of the study, as well as a checklist directly after each counseling session. The questionnaires/checklists of the study include items on communication during genetic counseling, counselor awareness of their clients' psychosocial problems, the (perceived) need for professional psychosocial support, cancer worries, general distress, specific psychosocial problems, satisfaction with care received, and experience using the PAHC questionnaire. DISCUSSION: This study will provide empirical evidence regarding the efficacy of a relatively brief psychosocial screening questionnaire in terms of facilitating personalized communication, increasing counselors' awareness, and optimizing management of psychosocial problems in the cancer genetic counseling setting. TRIAL REGISTRATION: This study is registered at the Netherlands Trial Register (NTR3205) and ClinicalTrials.gov (NCT01562431).


Asunto(s)
Asesoramiento Genético/métodos , Pruebas Genéticas , Neoplasias/genética , Proyectos de Investigación , Encuestas y Cuestionarios , Ansiedad/diagnóstico , Ansiedad/etiología , Actitud del Personal de Salud , Concienciación , Depresión/diagnóstico , Depresión/etiología , Predisposición Genética a la Enfermedad , Herencia , Humanos , Neoplasias/diagnóstico , Neoplasias/terapia , Países Bajos , Linaje , Fenotipo , Valor Predictivo de las Pruebas , Relaciones Profesional-Paciente , Pronóstico , Estudios Prospectivos , Factores de Riesgo , Estrés Psicológico/diagnóstico , Estrés Psicológico/etiología
19.
J Genet Couns ; 23(2): 133-46, 2014 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-23996531

RESUMEN

Approximately 25% of individuals undergoing genetic counseling for cancer experiences clinically relevant levels of distress, anxiety and/or depression. However, these general psychological outcomes that are used in many studies do not provide detailed information on the specific psychosocial problems experienced by counselees. The aim of this review was to investigate the specific psychosocial issues encountered by individuals undergoing genetic counseling for cancer, and to identify overarching themes across these issues. A literature search was performed, using four electronic databases (PubMed, PsychInfo, CINAHL and Embase). Papers published between January 2000 and January 2013 were selected using combinations, and related indexing terms of the keywords: 'genetic counseling', 'psychology' and 'cancer'. In total, 25 articles met our inclusion criteria. We identified the specific issues addressed by these papers, and used meta-ethnography to identify the following six overarching themes: coping with cancer risk, practical issues, family issues, children-related issues, living with cancer, and emotions. A large overlap in the specific issues and themes was found between these studies, suggesting that research on specific psychosocial problems within genetic counseling has reached a point of saturation. As a next step, efforts should be made to detect and monitor these problems of counselees at an early stage within the genetic counseling process.


Asunto(s)
Asesoramiento Genético , Neoplasias/psicología , Adaptación Psicológica , Predisposición Genética a la Enfermedad , Humanos , Neoplasias/genética
20.
Proc Natl Acad Sci U S A ; 108(24): 10010-5, 2011 Jun 14.
Artículo en Inglés | MEDLINE | ID: mdl-21610164

RESUMEN

Many protein-protein and protein-nucleic acid interactions have been experimentally characterized, whereas RNA-RNA interactions have generally only been predicted computationally. Here, we describe a high-throughput method to identify intramolecular and intermolecular RNA-RNA interactions experimentally by cross-linking, ligation, and sequencing of hybrids (CLASH). As validation, we identified 39 known target sites for box C/D modification-guide small nucleolar RNAs (snoRNAs) on the yeast pre-rRNA. Novel snoRNA-rRNA hybrids were recovered between snR4-5S and U14-25S. These are supported by native electrophoresis and consistent with previously unexplained data. The U3 snoRNA was found to be associated with sequences close to the 3' side of the central pseudoknot in 18S rRNA, supporting a role in formation of this structure. Applying CLASH to the yeast U2 spliceosomal snRNA led to a revised predicted secondary structure, featuring alternative folding of the 3' domain and long-range contacts between the 3' and 5' domains. CLASH should allow transcriptome-wide analyses of RNA-RNA interactions in many organisms.


Asunto(s)
ARN de Hongos/genética , ARN Ribosómico/genética , ARN Nucleolar Pequeño/genética , Saccharomyces cerevisiae/genética , Secuencia de Bases , Northern Blotting , ADN Complementario/química , ADN Complementario/genética , Modelos Moleculares , Datos de Secuencia Molecular , Conformación de Ácido Nucleico , ARN de Hongos/química , ARN de Hongos/metabolismo , ARN Ribosómico/química , ARN Ribosómico/metabolismo , ARN Ribosómico 18S/química , ARN Ribosómico 18S/genética , ARN Ribosómico 18S/metabolismo , ARN Nuclear Pequeño/química , ARN Nuclear Pequeño/genética , ARN Nuclear Pequeño/metabolismo , ARN Nucleolar Pequeño/química , ARN Nucleolar Pequeño/metabolismo , Análisis de Secuencia de ADN , Empalmosomas/genética , Empalmosomas/metabolismo
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