Background: In familial intracranial aneurysms there is evidence for genetic h eterogeneity, probably from mutations at separate loci. Objectives: To compare d emographic and clinical features in patients of families ...Background: In familial intracranial aneurysms there is evidence for genetic h eterogeneity, probably from mutations at separate loci. Objectives: To compare d emographic and clinical features in patients of families with familial intracran ial aneurysm and different patterns of inheritance; and to compare the ages of p atients with subarachnoid haemorrhage (SAH) in affected parent child pairs to d etermine whether there is anticipation. Methods: Pedigrees for 53 families with familial intracranial aneurysms were constructed, divided into patterns of inher itance suggestive or not suggestive of autosomal dominant transmission. Demograp hic and clinical features were compared. The age at time of SAH in affected pare nt child pairs was compared using the Wilcoxon test. Results: No differences in demographic or clinical features were found between families compatible with an autosomal dominant pattern of inheritance and those with a non dominant patter n. In families with affected members in two successive generations the age at ti me of SAH in parents was 55.2 years and in children 35.4 years (mean difference, 19.8 years, p < 0.001). Conclusions: Phenotypes are similar in families with an d without a probable autosomal dominant pattern of inheritance. Thus in future g enetic studies on familial intracranial aneurysms, stratification according to p henotype is not likely to be useful. Anticipation probably occurs, as affected p arents are significantly older at the time of SAH than their affected children.展开更多
Background and Purpose -Because intracranial aneurysms develop during life, patients with subarachnoid hemorrhage (SAH) and successfully occluded aneurysms are at risk for a recurrence. We studied the incidence of and...Background and Purpose -Because intracranial aneurysms develop during life, patients with subarachnoid hemorrhage (SAH) and successfully occluded aneurysms are at risk for a recurrence. We studied the incidence of and risk factors for recurrent SAH in patients who regained independence after SAH and in whom all aneurysms were occluded by means of clipping. Methods -From a cohort of patients with SAH admitted between 1985 and 2001, we included those patients who were discharged home or to a rehabilitation facility. We interviewed these patients about new episodes of SAH. We retrieved all medical records and radiographs in case of reported recurrences. If patients had died, we retrieved the cause of death. We analyzed the incidence of and risk factors for recurrent SAH by Kaplan-Meier curves and Cox regression analysis. Results -Of 752 patients with 6016 follow-up years (mean follow up 8.0 years), 18 had a recurrence. In the first 10 years after the initial SAH, the cumulative incidence of recurrent SAH was 3.2%(95%confidence interval [CI], 1.5%to 4.9%) and the incidence rate 286 of 100 000 patient-years (95%CI, 160 to 472 per 100 000). Risk factors were smoking (hazard ratio [HR], 6.5; 95%CI, 1.7 to 24.0), age (HR, 0.5 per 10 years; 95%CI, 0.3 to 0.8) and multiple aneurysms at the time of the initial SAH (HR, 5.5; 95%CI, 2.2 to 14.1). Conclusions -After SAH, the incidence of a recurrence within the first 10 years is 22 (12 to 38) times higher than expected in populations with comparable age and sex. Whether this increased risk justifies screening for recurrent aneurysms in patients with a history of SAH requires further study.展开更多
文摘Background: In familial intracranial aneurysms there is evidence for genetic h eterogeneity, probably from mutations at separate loci. Objectives: To compare d emographic and clinical features in patients of families with familial intracran ial aneurysm and different patterns of inheritance; and to compare the ages of p atients with subarachnoid haemorrhage (SAH) in affected parent child pairs to d etermine whether there is anticipation. Methods: Pedigrees for 53 families with familial intracranial aneurysms were constructed, divided into patterns of inher itance suggestive or not suggestive of autosomal dominant transmission. Demograp hic and clinical features were compared. The age at time of SAH in affected pare nt child pairs was compared using the Wilcoxon test. Results: No differences in demographic or clinical features were found between families compatible with an autosomal dominant pattern of inheritance and those with a non dominant patter n. In families with affected members in two successive generations the age at ti me of SAH in parents was 55.2 years and in children 35.4 years (mean difference, 19.8 years, p < 0.001). Conclusions: Phenotypes are similar in families with an d without a probable autosomal dominant pattern of inheritance. Thus in future g enetic studies on familial intracranial aneurysms, stratification according to p henotype is not likely to be useful. Anticipation probably occurs, as affected p arents are significantly older at the time of SAH than their affected children.
文摘Background and Purpose -Because intracranial aneurysms develop during life, patients with subarachnoid hemorrhage (SAH) and successfully occluded aneurysms are at risk for a recurrence. We studied the incidence of and risk factors for recurrent SAH in patients who regained independence after SAH and in whom all aneurysms were occluded by means of clipping. Methods -From a cohort of patients with SAH admitted between 1985 and 2001, we included those patients who were discharged home or to a rehabilitation facility. We interviewed these patients about new episodes of SAH. We retrieved all medical records and radiographs in case of reported recurrences. If patients had died, we retrieved the cause of death. We analyzed the incidence of and risk factors for recurrent SAH by Kaplan-Meier curves and Cox regression analysis. Results -Of 752 patients with 6016 follow-up years (mean follow up 8.0 years), 18 had a recurrence. In the first 10 years after the initial SAH, the cumulative incidence of recurrent SAH was 3.2%(95%confidence interval [CI], 1.5%to 4.9%) and the incidence rate 286 of 100 000 patient-years (95%CI, 160 to 472 per 100 000). Risk factors were smoking (hazard ratio [HR], 6.5; 95%CI, 1.7 to 24.0), age (HR, 0.5 per 10 years; 95%CI, 0.3 to 0.8) and multiple aneurysms at the time of the initial SAH (HR, 5.5; 95%CI, 2.2 to 14.1). Conclusions -After SAH, the incidence of a recurrence within the first 10 years is 22 (12 to 38) times higher than expected in populations with comparable age and sex. Whether this increased risk justifies screening for recurrent aneurysms in patients with a history of SAH requires further study.
