From GWAS to the clinic: risk factors for intracranial aneurysms

Subarachnoid hemorrhage (SAH) from a ruptured intracranial aneurysm is a devastating subset of stroke, occurring in relatively young people (mean age around 50 years) of whom around a third die within the initial weeks after the bleed. Environmental and genetic risk factors both have a role in SAH. A recent genome-wide association study of intracranial aneurysms in Finnish, Dutch and Japanese cohorts totaling 5,891 cases and 14,181 controls identified three new loci strongly associated with intracranial aneurysms on chromosomes 18q11.2 and 10q24.32, and replicated two previously found loci on chromosomes 8q11.23-q12.1 and 9p21.3. However, these five intracranial aneurysm risk loci identified so far explain only up to 5% of the familial risk of intracranial aneurysms, which makes genetic risk prediction tests currently unfeasible for intracranial aneurysms. New approaches, including identification of causal variants, rare variants and copy number variants, such as insertions and deletions, may improve genetic risk prediction for SAH and intracranial aneurysms. This may lead to diagnostic tools for identifying individuals at increased risk for aneurysm formation and rupture of aneurysms. In this way, genetic diagnostic tools will identify the people who will benefit most from screening by imaging studies for aneurysms and those who are most likely to benefit from preventive treatment of incidentally discovered aneurysms

European Stroke Organization Guidelines for the Management of Intracranial Aneurysms and Subarachnoid Haemorrhage

Peer reviewe

Radiosurgical, neurosurgical, or no intervention for cerebral cavernous malformations: A decision analysis

Introduction We aimed to evaluate the preferred treatment strategy for patients with symptomatic cerebral cavernous malformations (CCM). Methods In a decision model, we compared neurosurgical, radiosurgical, and conservative management. A literature review yielded the risks and outcomes of interventions, intracerebral hemorrhage (ICH), and seizures. Patients with CCM rated their quality of life to determine utilities. We estimated the expected number of quality-adjusted life years (QALYs) and the ICH recurrence risk over five years, according to mode of presentation and CCM location (brainstem vs. other). We performed analyses with a time horizon of five years. Results Using the best available data, the expected number of QALYs for brainstem CCM presenting with ICH or focal neurological deficit was 2.84 (95% confidence interval [CI]: 2.54-3.08) for conservative, 3.01 (95% CI: 2.86-3.16) for neurosurgical, and 3.03 (95% CI: 2.88-3.18) for radiosurgical intervention; those for non-brainstem CCM presenting with ICH or focal neurological deficit were 3.08 (95% CI: 2.85-3.31) for conservative, 3.21 (95% CI: 3.01-3.36) for neurosurgical, and 3.19 (95% CI: 2.98-3.37) for radiosurgical intervention. For CCM presenting with epilepsy, QALYs were 3.09 (95% CI: 3.03-3.16) for conservative, 3.33 (95% CI: 3.31-3.34) for neurosurgical, and 3.27 (95% CI: 3.24-3.30) for radiosurgical intervention. Discussion and conclusion For the initial five years after presentation, our study provides Class III evidence that for CCM presenting with ICH or focal neurological deficit conservative management is the first option, and for CCM presenting with epilepsy CCM intervention should be considered. More comparative studies with long-term follow-up are needed

Long-term results of corneal wedge resections for the correction of high astigmatism

Abstract We retrospectively evaluated 41 corneal wedge resections, performed for the correction of high astigmatism in 40 patients who were spectacle and contact lens intolerant. Keratometric astigmatism decreased from an average of 11.7 diopters (range 5 to 22.5 D) preoperatively to 3.5 diopters (range 0 to 10 D) postoperatively, representing a mean reduction of 8.2D (range 0 to 16.5), or 70%. The length of follow-up averaged 11 months. Twenty-five, 15 and 9 cases had a follow-up of at least 3, 5 and 10 years, respectively. In 16 cases the keratometry readings remained stable over the years. However, in 1 case of Fuchs' endothelial dystrophy (follow-up 13 years) and 5 cases of keratoconus (follow-up 3, 4, 12, 13 and 14 years) the astigmatism gradually increased during the various follow-up periods. In 3 other cases the astigmatism gradually decreased over the years. Corneal wedge resection is an effective technique for managing high corneal astigmatism. The results remain stable over the years except in some patients with keratoconus