Parallelisering NaS/RVS visualiser

The project is concerned with the parallelisation of existing visualisation code on the Cenju-3 computer. There is a twofold purpose for this project. 1. Performance improvement of the visualisation code. 2. Investigating the effectiveness of the Cenju-3 architecture for visualisation applications. The NLR does contract work for NEC in the area of Real-time Visualization for CFD flow-solvers. The project takes as a starting point the NEC software consisting of: • A flow-solver, currently running on the NEC SX-3 vector-supercomputer. This flow-solver will be parallelised for the Cenju-3 and can also be replaced by NLR solvers. • A user-interface (X/Motif), currently running on a NEC EW54800 workstation. This user-interface will be changed intensively to integrate with the GRAVICS system for interaction with applications. • Visualisation-code, currently running on the SX-3 and using an UltraNet frame buffer for presentation of graphics. The visualisation-code will be reviewed to remove dependencies on a certain hardware infrastructure. This will result in a version that can be used in the NLR environment. Part of the low-level graphics code will probably move to a graphics workstation and it is the high-level visualisation-code that should be parallelised for the Cenju-3. The parallelisation should be performed in such a way that the code optimally uses the MPP architecture independent of the number of available processing elements. Essential part of the project is the evaluation of the Cenju-3 hardware and software for suitability for this kind of application. This might result in suggestions for improvement of hardware or software to NEC.

The implementation of multiple lifestyle interventions in two organizations : a process evaluation

Objective: To evaluate the implementation of a multicomponent lifestyle intervention at two different worksites. Methods: Data on eight process components were collected by means of questionnaires and interviews. Data on the effectiveness were collected using questionnaires. Results: The program was implemented partly as planned, and 84.0% (max 25) and 85.7% (max 14) of all planned interventions were delivered at the university and hospital, respectively. Employees showed high reach (96.6%) and overall participation (75.1%) but moderate overall satisfaction rates (6.8 ± 1.1). Significant intervention effects were found for days of fruit consumption (β = 0.44 days/week, 95% CI: 0.02 to 0.85) in favor of the intervention group. Conclusions: The study showed successful reach, dose, and maintenance but moderate fidelity and satisfaction. Mainly relatively simple and easily implemented interventions were chosen, which were effective only in improving employees’ days of fruit consumption

The Implementation of Multiple Lifestyle Interventions in Two Organizations, A Process Evaluation

Objective: To evaluate the implementation of a multicomponent lifestyle intervention at two different worksites. Methods: Data on eight process components were collected by means of questionnaires and interviews. Data on the effectiveness were collected using questionnaires. Results: The program was implemented partly as planned, and 84.0% (max 25) and 85.7% (max 14) of all planned interventions were delivered at the university and hospital, respectively. Employees showed high reach (96.6%) and overall participation (75.1%) but moderate overall satisfaction rates (6.8 ± 1.1). Significant intervention effects were found for days of fruit consumption (β = 0.44 days/week, 95% CI: 0.02 to 0.85) in favor of the intervention group. Conclusions: The study showed successful reach, dose, and maintenance but moderate fidelity and satisfaction. Mainly relatively simple and easily implemented interventions were chosen, which were effective only in improving employees’ days of fruit consumption

Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update.

OBJECTIVE: To determine causative mutations and clinical status of 7 previously unreported kindreds with TRMA syndrome, (thiamine-responsive megaloblastic anemia, online Mendelian inheritance in man, no. 249270), a recessive disorder of thiamine transporter Slc19A2. STUDY DESIGN: Genomic DNA was purified from blood, and SLC19A2 mutations were characterized by sequencing polymerase chain reaction-amplified coding regions and intron-exon boundaries of all probands. Compound heterozygotes were further analyzed by sequencing parents, or cloning patient genomic DNA, to ascertain that mutations were in trans. RESULTS: We detected 9 novel SLC19A2 mutations. Of these, 5 were missense, 3 were nonsense, and 1 was insertion. Five patients from 4 kindreds were compound heterozygotes, a finding not reported previously for this disorder, which has mostly been found in consanguineous kindreds. CONCLUSION: SLC19A2 mutation sites in TRMA are heterogeneous; with no regional "hot spots." TRMA can be caused by heterozygous compound mutations; in these cases, the disorder is found in outbred populations. To the extent that heterozygous patients were ascertained at older ages, a plausible explanation is that if one or more allele(s) is not null, partial function might be preserved. Phenotypic variability may lead to underdiagnosis or diagnostic delay, as the average time between the onset of symptoms and diagnosis was 8 years in this cohor

A case study of haemoglobinopathy screening in the Netherlands: witnessing the past, lessons for the future

Item does not contain fulltextOBJECTIVES: In 2007 neonatal screening (NNS) was expanded to include screening for sickle cell disease (SCD) and beta-thalassaemia. Up until that year no formal recommendations for haemoglobinopathy (carrier) screening existed in the Netherlands. Although it has been subject to debate in the past, preconceptional and prenatal haemoglobinopathy carrier screening are not part of routine healthcare in the Netherlands. This study aimed to explore the decision-making process of the past: why was the introduction of a screening programme for haemoglobinopathy considered to be untimely, and did ethnicity play a role given the history in other countries surrounding the introduction of haemoglobinopathy screening? DESIGN: A witness seminar was organised, inviting key figures to discuss the decision-making process concerning haemoglobinopathy screening in the Netherlands, thereby adding new perspectives on past events. The transcript was content-analysed. RESULTS: The subject of haemoglobinopathy screening first appeared in the 1970s. As opposed to a long history of neglect of African-American health in the United States, the heritage of the Second World War influenced the decision-making process in the Netherlands. As a consequence, registration of ethnicity surfaced as an impeding factor. However, overall, official Dutch screening policy was restrained regarding reproductive issues caused by fear of eugenics. In the 1990s haemoglobinopathy screening was found to be 'not opportune' due to low prevalence, lack of knowledge and fear of stigmatisation. Currently the registration of ethnicity remains on the political agenda, but still proves to be a sensitive subject. DISCUSSION: Carrier screening in general never appeared high on the policy agenda. Registration of ethnicity remains sensitive caused by the current political climate. Complexities related to carrier screening are a challenge in Dutch healthcare. Whether carrier screening will be considered a valuable complementary strategy in the Netherlands, depends partly on participation of representatives of high-risk groups in policy making

PURA-Related Developmental and Epileptic Encephalopathy

Background and ObjectivesPurine-rich element-binding protein A (PURA) gene encodes Pur-alpha, a conserved protein essential for normal postnatal brain development. Recently, a PURA syndrome characterized by intellectual disability, hypotonia, epilepsy, and dysmorphic features was suggested. The aim of this study was to define and expand the phenotypic spectrum of PURA syndrome by collecting data, including EEG, from a large cohort of affected patients.MethodsData on unpublished and published cases were collected through the PURA Syndrome Foundation and the literature. Data on clinical, genetic, neuroimaging, and neurophysiologic features were obtained.ResultsA cohort of 142 patients was included. Characteristics of the PURA syndrome included neonatal hypotonia, feeding difficulties, and respiratory distress. Sixty percent of the patients developed epilepsy with myoclonic, generalized tonic-clonic, focal seizures, and/or epileptic spasms. EEG showed generalized, multifocal, or focal epileptic abnormalities. Lennox-Gastaut was the most common epilepsy syndrome. Drug refractoriness was common: 33.3% achieved seizure freedom. We found 97 pathogenic variants in PURA without any clear genotype-phenotype associations.DiscussionThe PURA syndrome presents with a developmental and epileptic encephalopathy with characteristics recognizable from neonatal age, which should prompt genetic screening. Sixty percent have drug-resistant epilepsy with focal or generalized seizures. We collected more than 90 pathogenic variants without observing overt genotype-phenotype associations

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

Genetics of disease, diagnosis and treatmen