Genetic Etiology and Clinical Consequences of Cone Disorders

Hereditary retinal disorders constitute a large heterogeneous group of diseases in which the photoreceptors are primarily aff ected. When cone cells are aff ected, one cannot see details or perceive color. In this thesis, we focused on the three most important diseases in which the cones are primarily aff ected: achromatopsia (ACHM), cone dystrophy (CD), and cone-rod dystrophy (CRD). Although cone disorders account for only a small portion of all retinal disorders, they have a great impact on daily life. This is mainly due to the early onset of disease, severe visual outcome, and lack of therapeutic options. Cone disorders can have an autosomal recessive, autosomal dominant or X-linked inheritance, but unfortunately the genetic etiology is still largely unknown. This hampers clinical and genetic counseling and the development of therapeutic options. This gap of knowledge encouraged us to initiate a multicenter study with the aim to investigate the clinical course of cone disorders and to unravel the genetic causes

X-rays applied to the study of the pore structure in soils.

X-ray radiography, which has proved to be a useful tool in tackling palaeontological, geological and soil mechanical problems, is shown to be useful as well in the study of the pore structure in soils. The advantages of X-ray radiography, some limitations and the necessity to combine this technique with others are discussed. The method is useful in the field of soil research as well as in education. In illustration, radiographs of subsoil samples of a marsh and three polder soils of the Wash area (Norfolk, England) are added. (Abstract retrieved from CAB Abstracts by CABI’s permission

DECIDING ABOUT IT: IT PORTFOLIOMANAGEMENT IN 19 MAJOR ORGANIZATIONS IN THE NETHERLANDS ANNO 2010

Getting value from IT investments is mentioned as one of the reasons why organizations should pay attention to IT governance. (Applegate et al (2009)). As far as the IT governance of IT is concerned, IT portfolio management is often viewed as a condition, without which it is difficult to fit in IT investment optimally within an organization\u27s requirements. (Dhillon, et al (2010)). This article is about this IT portfolio management and discusses the state of affairs in the Netherlands in the year 2010. The article consists of two parts. The first part explains the theory on which the study is based. Regarding this, the conditions for enabling introduction of portfolio management, its governance and organization, the data which is used in portfolio management and the possible results of performing portfolio management are discussed. The second part maps the actual practice of each of these four areas in the Netherlands. It may be concluded that the examined organizations particularly focus on IT project portfolio management. The department that carries out this portfolio management, is often part of a staff department which is also involved in other tasks. The reason for starting portfolio management is the vast number of large projects, resulting in a lack of insight and overview. In general, the data for controlling portfolios is centrally available. The level of control of ICT portfolios varies per sector. Furthermore, the data in the portfolios is immediately related to the objective of the portfolio management. In the portfolio management process, people in over 50% of all cases use spreadsheets (Excel) and/or simple database applications (Access) for registering the data. In the Netherlands, portfolios are not used for arriving at indicators or for benchmarking

Evaluation of pain incidence and pain management in a South African paediatric trauma unit

Objectives. To evaluate pain incidence and pain management in a South African paediatric trauma unit, and to compare the usefulness of 5 different assessment tools. Design. A prospective observational study, using the Numerical Rating Scale for pain (NRS pain), Numerical Rating Scale for anxiety (NRS anxiety), the Alder Hey Triage Pain Score (AHTPS), the COMFORT behaviour scale and the Touch Visual Pain Scale (TVPS). All patients were assessed at admission; those who were hospitalised were again assessed every 3 hours until discharge. Results. A total of 165 patients, with a mean age of 5.3 years (range 0 - 13), were included. NRS scores were indicative of moderate to severe pain in 13.3% of the patients, and no pain in 24% at admission. Two-thirds of the patients received no analgesics; for them, NRS pain, AHTPS and TVP scores were lower than the scores for the other children. Conclusion. Pain and anxiety incidences in this paediatric trauma unit are relatively low. Implementation of a standard pain assessment tool in the emergency department triage system can improve pain management. The AHTPS is the most promising for use in non-Western settings

Evaluation of pain incidence and pain management in a South African paediatric trauma unit

OBJECTIVES: To evaluate pain incidence and pain management in a South African paediatric trauma unit, and to compare the usefulness of 5 different assessment tools. DESIGN: A prospective observational study, using the Numerical Rating Scale for pain (NRS pain), Numerical Rating Scale for anxiety (NRS anxiety), the Alder Hey Triage Pain Score (AHTPS), the COMFORT behaviour scale and the Touch Visual Pain Scale (TVPS). All patients were assessed at admission; those who were hospitalised were again assessed every 3 hours until discharge. RESULTS: A total of 165 patients, with a mean age of 5.3 years (range 0 - 13), were included. NRS scores were indicative of moderate to severe pain in 13.3% of the patients, and no pain in 24% at admission. Two-thirds of the patients received no analgesics; for them, NRS pain, AHTPS and TVP scores were lower than the scores for the other children. CONCLUSION: Pain and anxiety incidences in this paediatric trauma unit are relatively low. Implementation of a standard pain assessment tool in the emergency department triage system can improve pain management. The AHTPS is the most promising for use in non-Western settings

Clinical characterization of 66 patients with congenital retinal disease due to the deep-intronic c.2991+1655A>G mutation in CEP290

Purpose: To describe the phenotypic spectrum of retinal disease caused by the c.2991+1655A>G mutation in CEP290 and to compare disease severity between homozygous and compound heterozygous patients. Methods: Medical records were reviewed for best-corrected visual acuity (BCVA), age of onset, fundoscopy descriptions. Foveal outer nuclear layer (ONL) and ellipsoid zone (EZ) presence was assessed using spectral-domain optical coherence tomography (SD-OCT). Differences between compound heterozygous and homozygous patients were analyzed based on visual performance and visual development. Results: A total of 66 patients were included. The majority of patients had either light perception or no light perception. In the remaining group of 14 patients, median BCVA was 20/195 Snellen (0.99 LogMAR; range 0.12-1.90) for the right eye, and 20/148 Snellen (0.87 LogMAR; range 0.22-1.90) for the left. Homozygous patients tended to be more likely to develop light perception compared to more severely affected compound heterozygous patients (P = 0.080) and are more likely to improve from no light perception to light perception (P = 0.022) before the age of 6 years. OCT data were available in 12 patients, 11 of whom had retained foveal ONL and EZ integrity up to 48 years (median 23 years) of age. Conclusions: Homozygous patients seem less severely affected compared to their compound-heterozygous peers. Improvement of visual function may occur in the early years of life, suggesting a time window for therapeutic intervention up to the approximate age of 17 years. This period may be extended by an intact foveal ONL and EZ on OCT

Evaluation of pain incidence and pain management in a South African paediatric trauma unit

Objectives. To evaluate pain incidence and pain management in a South African paediatric trauma unit, and to compare the usefulness of 5 different assessment tools. Design. A prospective observational study, using the Numerical Rating Scale for pain (NRS pain), Numerical Rating Scale for anxiety (NRS anxiety), the Alder Hey Triage Pain Score (AHTPS), the COMFORT behaviour scale and the Touch Visual Pain Scale (TVPS). All patients were assessed at admission; those who were hospitalised were again assessed every 3 hours until discharge. Results. A total of 165 patients, with a mean age of 5.3 years (range 0 - 13), were included. NRS scores were indicative of moderate to severe pain in 13.3% of the patients, and no pain in 24% at admission. Two-thirds of the patients received no analgesics; for them, NRS pain, AHTPS and TVP scores were lower than the scores for the other children. Conclusion. Pain and anxiety incidences in this paediatric trauma unit are relatively low. Implementation of a standard pain assessment tool in the emergency department triage system can improve pain management. The AHTPS is the most promising for use in non-Western settings

Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations.

Primary open angle glaucoma (POAG) is a complex disease with a major genetic contribution. Its prevalence varies greatly among ethnic groups, and is up to five times more frequent in black African populations compared to Europeans. So far, worldwide efforts to elucidate the genetic complexity of POAG in African populations has been limited. We conducted a genome-wide association study in 1113 POAG cases and 1826 controls from Tanzanian, South African and African American study samples. Apart from confirming evidence of association at TXNRD2 (rs16984299; OR[T] 1.20; P = 0.003), we found that a genetic risk score combining the effects of the 15 previously reported POAG loci was significantly associated with POAG in our samples (OR 1.56; 95% CI 1.26-1.93; P = 4.79 × 10-5). By genome-wide association testing we identified a novel candidate locus, rs141186647, harboring EXOC4 (OR[A] 0.48; P = 3.75 × 10-8), a gene transcribing a component of the exocyst complex involved in vesicle transport. The low frequency and high degree of genetic heterogeneity at this region hampered validation of this finding in predominantly West-African replication sets. Our results suggest that established genetic risk factors play a role in African POAG, however, they do not explain the higher disease load. The high heterogeneity within Africans remains a challenge to identify the genetic commonalities for POAG in this ethnicity, and demands studies of extremely large size