[The first patient with the new variant of Creutzfeldt-Jakob's disease in The Netherlands],[The first patient with the new variant of Creutzfeldt-Jakob's disease in The Netherlands]

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A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusen

Contains fulltext : 111029.pdf (publisher's version ) (Open Access)PURPOSE: The purpose of this study is to identify the genetic defect in a Turkish family with autosomal recessive retinitis pigmentosa, nanophthalmos, and optic disc drusen. METHODS: Ophthalmological examinations consisted of measuring the best-corrected visual acuity and the refractive error, electroretinography, optical coherence tomography, B-mode ultrasonography, and fundus photography. The involvement of the membrane frizzled-related protein (MFRP) gene in this family was studied with direct DNA sequencing of the coding exons of MFRP and with linkage analysis with microsatellite markers. After MFRP was excluded, genome-wide homozygosity mapping was performed with 250 K single nucleotide polymorphism (SNP) microarrays. Mutation analysis of the crumbs homolog 1 (CRB1) gene was performed with direct sequencing. RESULTS: Ophthalmological evaluation of both affected individuals in the family revealed a decreased axial length (18-19 mm), retinal dystrophy, macular edema, and hyperopia of >+8.0 diopters. Sequencing of MFRP did not reveal any pathogenic changes, and microsatellite marker analysis showed that the chromosomal region did not segregate within the disease in this family. Genome-wide homozygosity mapping using single nucleotide polymorphism microarrays revealed a 28-Mb homozygous region encompassing the CRB1 gene, and direct sequencing disclosed a novel homozygous missense mutation (p.Gly833Asp) in CRB1. CONCLUSIONS: Previous studies associated mutations in the MFRP gene with the syndrome nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen. In this study, we demonstrated that a similar disease complex can be caused by mutations in the CRB1 gene

Acute endophthalmitis after cataract surgery: 250 consecutive cases treated at a tertiary referral center in the Netherlands.

Contains fulltext : 87887pub.pdf (publisher's version ) (Closed access)PURPOSE: To evaluate the clinical characteristics, bacterial culture, and visual outcome of patients with acute endophthalmitis after cataract surgery. DESIGN: Retrospective consecutive interventional case series. METHODS: Clinical notes from patients treated for acute endophthalmitis after cataract surgery in a single center from 1996 to 2006 were reviewed. Patients with less than 1 month of follow-up and missing bacterial cultures were excluded. Vitreous biopsy or primary vitrectomy followed by intravitreal injection of vancomycin and ceftazidime (+/- prednisolone) was performed. Main outcome measures were bacterial culture and final visual acuity. RESULTS: Bacterial cultures (total 250 cases) showed bacterial growth in 166 cases (66.4%). From these 166 cultures, 89 (53.6%) revealed gram-positive coagulase-negative, 63 (38.0%) other gram-positive, 10 (6.0%) gram-negative, and 4 (2.4%) polymicrobial cultures. Vitreous biopsy with intravitreal antibiotics injection was performed in 225 (90.0%) of cases. Primary vitrectomy with intravitreal antibiotics was performed in 25 eyes (10.0%). Final visual acuity >/=0.5 was achieved in 129 (51.6%) of all cases, 54 (60.7%) of the 89 gram-positive coagulase-negative cultures, 20 (31.7%) of the 63 other gram-positive cultures, 5 (50.0%) of the 10 gram-negative cultures, and 9 (45.0%) of the 20 Staphylococcus aureus cultures. There was no additional effect for treatment by primary vitrectomy or intravitreal prednisolone. CONCLUSIONS: Treatment outcome after endophthalmitis is highly dependent on the causative organism. Treatment outcomes for gram-negative bacteria and S. aureus may be better than previously reported. Prompt treatment of endophthalmitis remains essential and the role of complete primary vitrectomy remains subject to debate.1 maart 201

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia (vol 9, pg 207, 2008)

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Kronieken Materieel en Formeel Strafrecht

Criminal Justice: Legitimacy, accountability, and effectivit

Effectiveness and cost-effectiveness of MicroShunt implantation versus standard trabeculectomy for open-angle glaucoma (a SIGHT study): study protocol of a multicentre randomised controlled trial

Background Trabeculectomy is the "gold standard " initial surgical procedure for open-angle glaucoma worldwide. During the last decade, the introduction of less invasive procedures, including new bleb-forming surgery such as the MicroShunt, has altered the approach of glaucoma management. At present, there is insufficient evidence comparing the effectiveness between these procedures nor versus trabeculectomy. Furthermore, there is no data available on patient impact and cost-effectiveness. This study aims to address this gap in evidence and establish whether MicroShunt implantation is non-inferior compared to trabeculectomy with regard to effectiveness and whether it is cost-effective.Methods A multicentre, non-inferiority, randomised controlled trial (RCT) studying open-angle glaucoma with an indication for surgery will be conducted. Patients with previous ocular surgery except for phacoemulsification are excluded, as are patients with ocular comorbidity compromising the visual field or requiring a combined procedure. After informed consent is obtained, patients will be randomly allocated to the intervention, a PRESERFLO (TM) MicroShunt implantation, or the control group, trabeculectomy, using block randomisation (blocks of 2, 4 or 6 patients). In total, 124 patients will be randomised in a 1:1 ratio, stratified by centre. The primary endpoint will be intraocular pressure (IOP) one year after surgery. Secondary outcomes include IOP-lowering medication use, treatment failure, visual acuity, visual field progression, additional interventions, adverse events, patient-reported outcome measures (PROMs), and cost-effectiveness. Study outcomes will be measured up to 12 months postoperatively.Discussion This study protocol describes the design of a multicentre non-inferiority randomised controlled trial. To this date, cost-effectiveness studies evaluating the MicroShunt have not been undertaken. This multicentre RCT will provide more insight into whether MicroShunt implantation is non-inferior compared to standard trabeculectomy regarding postoperative IOP and whether MicroShunt implantation is cost-effective

Adipocytes Modulate the Phenotype of Macrophages Through Secreted Lipids

Optimising joint reconstruction management in arthritis and bone tumour patient

BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome

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