Intracranial aneurysms: analysis of results of microneurosurgery.

Subarachnoid haemorrhage from intracranial aneurysms has a poor prognosis. Operative management of intracranial aneurysms was once considered ineffective. The first 100 cases treated by micorsurgery were analysed to see whether mortality and morbidity were reduced. Modern surgical techniques halved the total mortality but the morbidity was unaltered. Results can be improved by delaying surgery seven days and by treating any hypertension before surgery.     

Renal artery aneurysms in children]

Renal artery aneurysms were diagnosed in 11 patients (9 boys) aged 1 to 14. The examinations were carried out for vasorenal hypertension in 4 cases, for bladder-ureter reflux, hematuria, nephroptosis in 4, ureterohydronephrosis in 2 cases, and for interstitial nephritis. Aneurysms of the major trunk of the renal artery, mostly oval-shaped, 11 x 14 to 25 x 28 mm in size, were detected in 4 patients, intrarenal aneurysms 2 x 3 to 5 x 6 mm in size in 7 cases. The share of aneurysms among uronephrologic conditions in children was found to be 1.54%, among vasorenal hypertension cases, 4.3%. Vasorenal hypertension is the main optional sign of aneurysms of the main trunk of the renal artery, whereas for intrarenal aneurysms such sign is hematuria.     

Intracranial pressure and intracranial volume in children with craniosynostosis.

Intracranial volume and intracranial pressure have been measured in 66 children with craniosynostosis, 48 boys and 18 girls. The premature fusion of skull sutures is assumed to restrict skull growth and predispose to elevated intracranial pressure. Thirteen children (20 percent) had raised intracranial pressure and demonstrated a significant restriction of skull growth. In this series, volume measurement alone, however, did not serve as a reliable predictor that the intracranial pressure was raised.     

Intracranial aneurysms in Finnish families: confirmation of linkage and refinement of the interval to chromosome 19q13.3

We recently reported a two-stage genomewide screen of 48 sib pairs affected with intracranial aneurysms (IAs) that revealed suggestive linkage to chromosome 19q13, with a LOD score of 2.58. The region supporting linkage spanned ~22 cM. Here, we report a follow-up study of the locus at 19q13, with a sample size expanded to 139 affected sib pairs, along with 83 other affected relative pairs (222 affected relative pairs in total). Suggestive linkage was observed in both independent sample sets, and linkage was significant in the combined set at 70 cM (LOD score 3.50; P=.00006) and at 80 cM (LOD score 3.93; P=.00002). Linkage was highly significant at 70 cM (LOD score 5.70; P=.000001) and at 80 cM (LOD score 3.99; P=.00005) when a covariate measuring the number of affected individuals in the nuclear family was included. To evaluate further the contribution to the linkage signal from families with more than two affected relatives, we performed model-based linkage analysis with a recessive model and a range of penetrances, and we obtained maximum linkage at 70 cM (LOD score 3.16; P=.00007) with a penetrance of 0.3. We then estimated location by using GENEFINDER. The most likely location for a gene predisposing to IAs in the Finnish population is in a region with a 95% confidence interval of 11.6 cM (P=.00007) centered 2.0 cM proximal to D19S246.     

Intracranial Aneurysms

A reappraisal of case histories of patients with ruptured intracranial aneurysms emphasized the importance of clinically recognizing severe spasm that contraindicates early angiography and large cerebral haematomas that require immediate evacuation. Observation from the day of haemorrhage is important; most recurrent episodes with cerebral signs in the first 10 days were due to spasm; haemorrhage was more common during the following two weeks. In many attacks the signs were not sufficiently distinctive for diagnosis of spasm or haematoma.     

Genetic variants of glutamate receptor gene family in Taiwanese Kawasaki disease children with coronary artery aneurysms

Background

Patients with Kawasaki disease (KD), a pediatric systemic vasculitis, may develop coronary artery aneurysm (CAA) as a complication. To investigate the role of glutamate receptors in KD and its CAA development, we performed genetic association studies.

Methods and results

We examined the whole family of glutamate receptors by genetic association studies in a Taiwanese cohort of 262 KD patients. We identified glutamate receptor ionotropic, kainate 1 (GRIK1) as a novel susceptibility locus associated with CAA formation in KD. Statistically significant differences were noted for factors like fever duration, 1st Intravenous immunoglobulin (IVIG) used time (number of days after the first day of fever) and the GRIK1 (rs466013, rs425507, and rs38700) genetic variants. This significant association persisted even after using multivariate regression analysis (Full model: for rs466013: odds ratio =2.12; 95% CI =1.22-3.65; for rs425507: odds ratio =2.16; 95% CI =1.26-3.76; for rs388700: odds ratio =2.16; 95% CI =1.26-3.76).

Conclusions

We demonstrated that GRIK1 polymorphisms are associated CAA formation in KD, even when adjusted for fever duration and IVIG used time, and may also serve as a genetic marker for the CAA formation in KD.