Background and Purpose-Familial occurrence of intracranial aneurysms suggests a genetic factor in the development of these aneurysms. In this study, we present the identification of a susceptibility locus for the development of intracranial aneurysms detected by a genome-wide linkage approach in a large consanguineous pedigree. Methods-Patients with clinical signs and symptoms of intracranial aneurysms, confirmed by radiological, surgical, or postmortem investigations, were included in the study. Magnetic resonance angiography was used to detect asymptomatic aneurysms in relatives. Results-Seven out of 20 siblings had an intracranial aneurysm. Genome-wide multipoint linkage analysis showed a significant logarithm of the odds score of 3.55. Conclusion-In a large consanguineous pedigree intracranial aneurysms are linked to chromosome 2p13 in a region between markers D2S2206 and D2S2977.
BackgroundIn adult patients with developmental hip dysplasia, a surgical procedure (triple innominate osteotomy) of the pelvic bone can be performed to rotate the acetabulum in the frontal plane, establishing better acetabular coverage. Although common clinical hip scores demonstrate significant improvements after surgery, they provide only overall information about function. The purpose of this study was to quantify the long-term outcome of triple innominate osteotomy in more detail using gait analyses and muscle strength measurements.MethodsWe performed gait analyses at self-selected walking speed as well as isometric hip and knee muscle strength tests in twelve women who had undergone a unilateral triple innominate osteotomy (age: 34 ± 12 y, time post surgery: 80 ± 18 m). We compared the results to reference values obtained from eight healthy peers (age: 33 ± 10 y).ResultsThe patients exhibited slight asymmetries in step length (smaller steps) and stance time (longer stance) as well as lower hip abduction moments in the operated limb in early stance compared to the non-operated limb. However, there were no differences in gait compared to healthy controls, even though the patients showed reduced bilateral hip abduction strength compared to controls.ConclusionsOur results indicate that the patients’ gait pattern had generally recovered very well, despite slight asymmetries in spatiotemporal parameters. Subtle deviations in hip abduction moments were observed during gait, whereas hip abduction strength was substantially reduced. Hence, the patients walked at a higher percentage of their maximal capacity. They may, therefore, be prone to fatigue and adopt compensatory gait strategies more quickly than healthy peers when walking long distances.
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