Autonomy, solidarity, and self-realization: policy views of Dutch service providers

The popularity of autonomy and self-determination in thinking and talking about quality of life of individuals with mental retardation suggests a dominance of these concepts in the field today. Here we offer an analysis and evaluation of this view and compare it with two alternative and complementary views--solidarity and self-realization. Recent policy documents of central government and parents' organizations and recent policy documents of 22 agencies for people with mental retardation in the Netherlands are the basis of this analysis. Results suggest that proponents of these alternative views offer valuable criticisms of the dominant view. We appeal for an open discussion of various concepts and their respective strengths and weaknesses in relation to different clients and institutional contexts.     

Awareness of breast cancer incidence and risk factors among healthy women.

The efficacy of early breast cancer detection programmes seems to be mainly influenced by the awareness of breast cancer in general among healthy women. This study aimed to provide information about women's understanding of breast cancer incidence and risk of disease. Based on a newly developed questionnaire 2108 healthy women were asked about their knowledge and perceptions in relation to breast cancer incidence, risk factors, risk perception and level of concern. Of these women 78.8% were well aware of breast cancer in general terms. However, there were major aspects such as incidence or risk factors that were poorly understood. Only one-third correctly estimated the incidence of breast cancer; 95% understood breast cancer in the familial history as a risk factor, but only 57% understood the age risk; 37.1% of women perceived hormonal contraceptives and 35.9% hormonal replacement therapy as risk factors of breast cancer. The latter estimation was significantly higher in women above 40 years. Recommendations for the improvement of cancer prevention programmes include targeting understanding of lifetime risk of breast cancer, age as a risk factor, survival from breast cancer or hormonal factors. There is a need to separately address the perceptions of women depending on age, social status and educational levels.     

Bedside prediction of the central venous catheter insertion depth

BACKGROUND: The carina level has been shown to be near the pericardial reflectionand can easily be identified as a landmark on a routine chestradiography. The purpose of this study was to reveal a simplemethod to predict the adequate central venous catheter (CVC)depth, hereby facilitating safe positioning of the CVC tip. METHODS: Central venous catheterization was performed via the right internaljugular vein (IJV) or the right subclavian vein (SCV). The CVCwas placed at a depth derived by adding the length between theneedle insertion point and the clavicular notch and the verticallength between the clavicular notch and the carina on the chestradiograph. The distance between the CVC tip and the carinawas measured on the postoperative chest radiograph. RESULTS: The tip position of 100 CVCs placed via the right IJV was 0.1(1.1) cm [mean (SD)] below the carina (95% CI: 0.3 cm belowcarina–0.2 cm above carina) and the tip positionof 153 CVCs placed via the right SCV was 0.0 (1.2) cm [mean(SD)] below the carina (95% CI: 0.2 cm below carina–0.2 cmabove carina). There were nine outliers (two in IJV group andseven in SCV group). CONCLUSIONS: When CVCs are inserted to a depth derived by adding the lengthbetween the needle insertion point and the clavicular notchand the vertical length between the clavicular notch and thecarina, the CVC tip can be reliably placed near the carina level.     

Accuracy of tuned aperture computed tomography in the diagnosis of radicular fractures in non-restored maxillary anterior teeth--an in vitro study

OBJECTIVES: This study compared the accuracy of three radiographic imaging modalities for the detection of artificially induced radicular fractures on maxillary anterior teeth. METHODS: Fractures were induced in 28 of 54 maxillary incisors in 15 cadaver specimens using a distally directed force. Radiographs evaluated included conventional two-dimensional direct digital radiographs (DDI), unprocessed Tuned Aperture Computed Tomography (TACT-U) and iteratively restored TACT (TACT-IR). Eight observers recorded their findings using a five-point confidence-rating scale. Receiver Operating Characteristic (ROC) analyses were done, followed by ANOVA to test for significant effects of observers, imaging modality and fracture location. Post hoc tests were carried out in instances where ANOVA indicated significance. RESULTS: The areas under the ROC-curves (A(z)) were, respectively: DDI: 0.53; TACT-U: 0.83 and TACT-IR: 0.97. TACT-IR and TACT-U performed significantly better than DDI (P < 0.001) with TACT-IR providing a higher detection accuracy than TACT-U (P < 0.033). A difference in detection accuracy was also noted based on fracture location (P < 0.001). Tukey's post hoc analyses revealed that fractures extending beyond the middle third of the root were more accurately detected. Inter-observer agreement was 0.68, and intra-examiner agreement, 0.87 (kappa analysis). CONCLUSIONS: TACT performed significantly better than direct digital images in detecting trauma-induced radicular fractures in unrestored, maxillary anterior teeth.     

Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia

Genetic associations involving both rare and common alleles have been reported for schizophrenia but there have been no systematic scans for rare recessive genotypes using fully phased trio data. Here, we use exome sequencing in 604 schizophrenia proband–parent trios to investigate the role of recessive (homozygous or compound heterozygous) nonsynonymous genotypes in the disorder. The burden of recessive genotypes was not significantly increased in probands at either a genome-wide level or in any individual gene after adjustment for multiple testing. At a system level, probands had an excess of nonsynonymous compound heterozygous genotypes (minor allele frequency, MAF ⩽1%) in voltage-gated sodium channels (VGSCs; eight in probands and none in parents, P=1.5 × 10⁻⁴). Previous findings of multiple de novo loss-of-function mutations in this gene family, particularly SCN2A, in autism and intellectual disability provide biological and genetic plausibility for this finding. Pointing further to the involvement of VGSCs in schizophrenia, we found that these genes were enriched for nonsynonymous mutations (MAF ⩽0.1%) in cases genotyped using an exome array, (5585 schizophrenia cases and 8103 controls), and that in the trios data, synaptic proteins interacting with VGSCs were also enriched for both compound heterozygosity (P=0.018) and de novo mutations (P=0.04). However, we were unable to replicate the specific association with compound heterozygosity at VGSCs in an independent sample of Taiwanese schizophrenia trios (N=614). We conclude that recessive genotypes do not appear to make a substantial contribution to schizophrenia at a genome-wide level. Although multiple lines of evidence, including several from this study, suggest that rare mutations in VGSCs contribute to the disorder, in the absence of replication of the original findings regarding compound heterozygosity, this conclusion requires evaluation in a larger sample of trios.     

Identification of a novel HLA-B*44 variant (B*4441) in three unrelated Caucasian individuals

Here, we report the identification of a new human leukocyte antigen (HLA)-B*44 allele found almost simultaneous in three DNA samples which were part of routine bone marrow donor typing by order of the German registry 'Aktion Knochenmarkspende Bayern'. The samples appeared noticeable in different polymerase chain reactions using sequence-specific primers (PCR-SSP) or sequence-specific oligonucleotides (PCR-SSO). Sequence-based typing revealed a novel allele officially designated as B*4441*. This sequence differs from HLA-B*44020101/4427 by two nucleotide positions at the beginning of exon 3: by position 353 (T to C) and by position 355 (A to C). These differences in sequence result in deviant amino acids at codon 94 (Ile94Thr) and codon 95 (Ile95Leu).