Over de waarde van een gebruikersonderzoek

Het opzetten en uitvoeren van een gebruikersonderzoek blijft altijd spannend. Hoe pak je zoiets aan en wegen de inspanningen en kosten wel op tegen de resultaten? En wat doe je vervolgens met die resultaten? Janneke van Zelst en Gusta Drenthe evalueren het gebruikersonderzoek in de vorm van een websurvey zoals dat recent werd uitgevoerd bij de universiteitsbibliotheek van de Erasmus Universiteit Rotterda

Psychosocial impact of undergoing prostate cancer screening for men with BRCA1 or BRCA2 mutations.

OBJECTIVES: To report the baseline results of a longitudinal psychosocial study that forms part of the IMPACT study, a multi-national investigation of targeted prostate cancer (PCa) screening among men with a known pathogenic germline mutation in the BRCA1 or BRCA2 genes. PARTICPANTS AND METHODS: Men enrolled in the IMPACT study were invited to complete a questionnaire at collaborating sites prior to each annual screening visit. The questionnaire included sociodemographic characteristics and the following measures: the Hospital Anxiety and Depression Scale (HADS), Impact of Event Scale (IES), 36-item short-form health survey (SF-36), Memorial Anxiety Scale for Prostate Cancer, Cancer Worry Scale-Revised, risk perception and knowledge. The results of the baseline questionnaire are presented. RESULTS: A total of 432 men completed questionnaires: 98 and 160 had mutations in BRCA1 and BRCA2 genes, respectively, and 174 were controls (familial mutation negative). Participants' perception of PCa risk was influenced by genetic status. Knowledge levels were high and unrelated to genetic status. Mean scores for the HADS and SF-36 were within reported general population norms and mean IES scores were within normal range. IES mean intrusion and avoidance scores were significantly higher in BRCA1/BRCA2 carriers than in controls and were higher in men with increased PCa risk perception. At the multivariate level, risk perception contributed more significantly to variance in IES scores than genetic status. CONCLUSION: This is the first study to report the psychosocial profile of men with BRCA1/BRCA2 mutations undergoing PCa screening. No clinically concerning levels of general or cancer-specific distress or poor quality of life were detected in the cohort as a whole. A small subset of participants reported higher levels of distress, suggesting the need for healthcare professionals offering PCa screening to identify these risk factors and offer additional information and support to men seeking PCa screening

The experience of adolescents and parents before, after, and in the process of redirection into the Adapted program of education with lower educational standard

This diploma paper studies the experience of adolescents and their parents where the adolescents were redirected from the regular school program into the Adapted program of education with lower educational standard. Individuals with mild intellectual disability are typically characterised by reduced learning abilities, but in the adapted learning environment they are able to achieve basic school aims. Due to extensive learning difficulties such students are unable to follow the regular school program, which is why they are schooled, or are later redirected into the Adapted program of education with lower educational standard. If the students are redirected later, learning difficulties and failure in the field of education increase, which can cause behavioural and emotional problems, as well as have an important role on students' self-respect. Due to constant failure the students may develop fear of school, and consequently dislike of learning or of school in general. Emotional tension and distress related to school can cause psychosomatic problems or disorders in students. But learning failure extends beyond the scope of student's perception of school alone. It also affects how students spend their free time and their social relations in the broader and narrow environment. This research studies four students, who were redirected into the Adapted program of education with lower educational standard. It is a case study which provides an insight into the experience of parents and their children in the process of redirection into the above mentioned program. To obtain the research data we used the half-structured interview. The interviews were recorded and transcribed. The transcript was then summarized and paraphrased and then analysed in accordance with elements of qualitative text analysis. The research shows that the students felt unsuccessful in the regular school, having difficulties in their relations with peers and teachers, as well as spending a lot of time for their school work. Their parents’ observations were similar, reporting about various behavioural and emotional problems of their children. After the redirection both the students and their parents noted that they had less learning difficulties, the students' well-being improved along with their attitude to school and relations with teachers and students. This research can help understand the problems of students with learning difficulties that are, despite effort and assistance, unable to achieve minimal learning standards. The experience of students and parents is a source of information to those parents and teachers who are dealing with the process of redirection into the Adapted program of education with lower educational standard

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Background: Diagnosis of primary immunodeficiencies (PIDs) is complex and cumbersome yet important for the clinical management of the disease. Exome sequencing may provide a genetic diagnosis in a significant number of patients in a single genetic test. Methods: In May 2013, we implemented exome sequencing in routine diagnostics for patients suffering from PIDs. This study reports the clinical utility and diagnostic yield for a heterogeneous group of 254 consecutively referred PID patients from 249 families. For the majority of patients, the clinical diagnosis was based on clinical criteria including rare and/or unusual severe bacterial, viral, or fungal infections, sometimes accompanied by autoimmune manifestations. Functional immune defects were interpreted in the context of aberrant immune cell populations, aberrant antibody levels, or combinations of these factors. Results: For 62 patients (24%), exome sequencing identified pathogenic variants in well-established PID genes. An exome-wide analysis diagnosed 10 additional patients (4%), providing diagnoses for 72 patients (28%) from 68 families altogether. The genetic diagnosis directly indicated novel treatment options for 25 patients that received a diagnosis (34%). Conclusion: Exome sequencing as a first-tier test for PIDs granted a diagnosis for 28% of patients. Importantly, molecularly defined diagnoses indicated altered therapeutic options in 34% of cases. In addition, exome sequencing harbors advantages over gene panels as a truly generic test for all genetic diseases, including in silico extension of existing gene lists and re-analysis of existing data

Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition

Background: Prostate-specific antigen (PSA) and PSA-velocity (PSAV) have been used to identify men at risk of prostate cancer (PrCa). The IMPACT study is evaluating PSA screening in men with a known genetic predisposition to PrCa due to BRCA1/2 mutations. This analysis evaluates the utility of PSA and PSAV for identifying PrCa and high-grade disease in this cohort. Methods: PSAV was calculated using logistic regression to determine if PSA or PSAV predicted the result of prostate biopsy (PB) in men with elevated PSA values. Cox regression was used to determine whether PSA or PSAV predicted PSA elevation in men with low PSAs. Interaction terms were included in the models to determine whether BRCA status influenced the predictiveness of PSA or PSAV. Results: 1634 participants had >= 3 PSA readings of whom 174 underwent PB and 45 PrCas diagnosed. In men with PSA >3.0 ng ml(-1), PSAV was not significantly associated with presence of cancer or high-grade disease. PSAV did not add to PSA for predicting time to an elevated PSA. When comparing BRCA1/2 carriers to non-carriers, we found a significant interaction between BRCA status and last PSA before biopsy (P = 0.031) and BRCA2 status and PSAV (P = 0.024). However, PSAV was not predictive of biopsy outcome in BRCA2 carriers. Conclusions: PSA is more strongly predictive of PrCa in BRCA carriers than non-carriers. We did not find evidence that PSAV aids decision-making for BRCA carriers over absolute PSA value alone

Additional file 4: of Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Table S4. (A) The number of patients with isolated or combined infections, and (B) the number of patients with isolated or combined immunophenotypes, and the percentage for which we have reported a genetic diagnosis. (XLSX 11 kb

Additional file 1: of Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Table S1. Overview of all clinical characteristics of the patients included in our diagnostic PID cohort, including all immunophenotype characteristics. (XLSX 63 kb

Additional file 6: of Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Table S6. Information on all large >â 5-Mb homozygous regions per patient, detected in the exome. Of each region, the genomic location, size, % homozygous variants, and the detected mutation are provided. (XLSX 158 kb

Additional file 3: of Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Table S3. Variants of unknown significance (class 3) and variants in TRAF3 identified in 17 patients suffering from primary immunodeficiencies. (XLSX 11 kb