Purpose Thoracic aortic aneurysm and dissection (TAAD) is typically inherited in an autosomal dominant manner, but rare X-linked families have been described. So far the only known X-linked gene is FLNA, which is associated with the periventricular nodular heterotopia type of Ehlers-Danlos syndrome. However, mutations in this gene only explain a small number of X-linked TAAD families. Methods We performed targeted resequencing of 368 candidate genes in a cohort of 11 molecularly unexplained Marfan probands. Subsequently, Sanger sequencing of BGN in 360 male and 155 female molecularly unexplained TAAD probands was carried out. Results We found five individuals with loss-of-function mutations in BGN, encoding the small leucine-rich proteoglycan biglycan. The clinical phenotype is characterized by early onset aortic aneurysm and dissection. Other recurrent findings include hypertelorism, pectus deformity, joint hypermobility, contractures and mild skeletal dysplasia. Fluorescent stainings revealed an increase in TGF-β signalling, evidenced by an increase in nuclear pSMAD2 in aortic wall. Our results are in line with prior reports demonstrating that Bgn-deficient male BALB/cA mice die from aortic rupture. Conclusion In conclusion, BGN gene defects in humans cause an X-linked syndromic form of severe TAAD, associated with preservation of elastic fibres and increased TGF-β signalling.

BackgroundChronic treatment of glaucoma can present a challenge in patients who lack the means and/or the discipline to use daily glaucoma medication. We wondered if selective laser trabeculoplasty (SLT) could be a useful alternative.MethodsInclusion criteria: controlled trials comparing efficacy of SLT in adult patients with any form of open angle glaucoma or ocular hypertension and case reports on side effects of SLT. Two recent meta-analyses identified eight randomized clinical trials (RCTs) comparing the effect of SLT with medication (prostaglandin analogs) and with argon laser trabeculoplasty (ALT). We took these eight RCTs as reference base and calculated their success rates where they were not given. Other articles were added to elaborate on technique and side effects.ResultsMean intraocular pressure (IOP) reduction after SLT was 3.8–8.0 mmHg after 6 months to 1 year. Mean success rate of SLT at 6 months to 1 year is 55–82 %. Higher IOP before laser predicts a higher IOP-lowering effect. In terms of mean IOP reduction, reduction in number of medications and treatment success, the effect of SLT was found to show no clinically relevant difference from that of contemporary medication (prostaglandin analogs) and from ALT.ConclusionsThe evidence indicates that SLT is an efficacious primary or adjunctive therapy for treating glaucoma.

In today’s world, digitalization and automation are ubiquitous and different countries have different strategies for implementing information technology in health care. In Belgium, these plans include the dematerialization of prescriptions, following the implementation of a system of electronic prescribing. In the light of these changes, we studied the attitudes of patients toward a paperless prescription. We collected the opinions of 273 patients by survey. Older people, or people with more complex medical needs, expressed a clear desire to keep receiving a paper version of the prescription. Younger people foresaw practical advantages, and expressed a willingness to buy prescription-only medicines online. Knowledge about the planned changes was, however, limited. Privacy and autonomy issues were expressed by a large fraction of people. The problem of what happens when a third person wants to pick up medicines for a patient, a frequent occurrence, was often mentioned. We conclude that, at present, patients have inadequate knowledge and understanding about the planned changes. In light of these considerations and the recent technical problems encountered by the system, we feel that an updated risk/benefit analysis of the planned policy is urgently needed.

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