Background and Purpose—
Cervical artery dissections (CAD) can be associated with connective tissue aberrations in skin biopsies. The analysis of healthy relatives of patients suggested that the connective tissue phenotype is familial with an autosomal dominant inheritance.
Methods—
We performed genetic linkage studies in 3 families of patients with CAD. Connective tissue phenotypes for the patients and all family members were assessed by electron microscopic study of skin biopsies. A genome-wide linkage analysis of 1 family (1 patient with 8 healthy relatives) indicated 2 candidate loci. Three genes were subsequently studied by sequence analysis. Part of the genome was also studied by linkage analysis in 2 further families.
Results—
The genome-wide scan in a single family suggested linkage between the hypothetical mutation causing the connective tissue phenotype and informative genetic markers on chromosome 15q24 (logarithm of the odds score:
Z
= +2.1). A second possible candidate locus (
Z
=+1.9) was found on chromosome 10q26. Sequence analysis of 3 candidate genes in the suggestive locus (chondroitin sulfate proteoglycan4 [
CSPG4
], lysyl oxidase-like1 [
LOXL1
] and fibroblast growth factor receptor2 [
FGFR2
]) did not lead to the identification of a mutation responsible for connective tissue alterations. In 2 additional smaller families the loci on chromosome 15q24 and 10q26 were excluded by linkage analysis.
Conclusions—
Linkage analysis of a large family with CAD-associated connective tissue alterations suggested the presence of a candidate locus on chromosome 15q2 or on chromosome 10q26. Sequence analysis did not lead to the identification of a mutated candidate gene in 1 of these loci. The study of 2 additional pedigrees indicated locus heterogeneity for the connective tissue phenotype of CAD patients.
Background and purpose
There is no clear consensus among current guidelines on the preferred admission ward [i.e. intensive care unit (ICU) or stroke unit (SU)] for patients with intracerebral hemorrhage. Based on expert opinion, the American Heart Association and European Stroke Organization recommend treatment in neurological/neuroscience ICUs (NICUs) or SUs. The European Stroke Organization guideline states that there are no studies available directly comparing outcomes between ICUs and SUs.
Methods
We performed an observational study comparing outcomes of 10 811 consecutive non‐comatose patients with intracerebral hemorrhage according to admission ward [ICUs, SUs and normal wards (NWs)]. Primary outcomes were the modified Rankin Scale score at discharge and intrahospital mortality. An additional analysis compared NICUs with SUs.
Results
Treatment outside an SU was associated with higher odds for an unfavorable outcome [ICU vs. SU: odds ratio (OR), 1.27; 95% confidence interval (CI), 1.09–1.46; NW vs. SU: OR, 1.28; 95% CI, 1.08–1.52] and higher odds for intrahospital mortality (ICU vs. SU: OR, 2.11; 95% CI, 1.75–2.55; NW vs. SU: OR, 1.52; 95% CI, 1.23–1.89). A subgroup analysis of severely affected patients treated in dedicated NICUs (vs. SUs) showed that they had a lower risk of a poor outcome (OR, 0.45; 95% CI, 0.26–0.79).
Conclusions
Treatment in SUs was associated with better functional outcome and reduced mortality compared with ICUs and NWs. Our findings support the current guideline recommendations to treat patients with intracerebral hemorrhage in SUs or NICUs and suggest that some patients may further benefit from NICU treatment.
A common pro-inflammatory promoter variant of the selenoprotein S encoding gene (SEPS1) was studied in young stroke patients from Italy and Germany and in healthy control subjects. The -105A-allele was found in 56 of 205 (27.3%) patients with ischemic stroke IS because of a spontaneous cervical artery dissection (CAD), and in 69 of 295 (23.4%) patients <50 years with IS of non-CAD origin. The SEPS -105A promoter variant was detected in 87 of 393 healthy control subjects (22.1%) and in 11 of 55 CAD patients without IS (20%). The non-significant differences of SEPS1 allele frequencies between disease groups and healthy controls suggest that the SEPS1 -105A allele is not a major-risk factor for stroke.
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