Ischemia in intracerebral hemorrhage: A comparative study of small-vessel and large-vessel diseases.

OBJECTIVE: This study aimed to compare effects of cerebral small-vessel disease (cSVD) burden and cerebral artery stenosis (CAS) on acute ischemia in intracerebral hemorrhage (ICH) and their interaction with mean arterial pressure (MAP) change. METHODS: We recruited consecutive patients with acute primary ICH. Brain magnetic resonance imaging and angiography were performed to quantify diffusion-weighted imaging (DWI) lesions, CAS, and cSVD markers, which were calculated for the total cSVD score. Multivariable regression models were adopted to explore their associations by DWI lesions size (<15 vs. ≥15 mm) and median MAP change stratification. RESULTS: Of 305 included patients (mean age 59.5 years, 67.9% males), 77 (25.2%) had DWI lesions (small, 79.2%; large, 20.8%) and 67 (22.0%) had moderate and severe CAS. In multivariable analysis, small DWI lesions were independently associated with higher total cSVD score (odds ratio [OR] 1.81, 95% confidence interval [CI] 1.36-2.41). and large DWI lesions were associated with more severe CAS (OR 2.51, 95% CI 1.17-5.38). This association was modified by MAP change (interaction p = 0.016), with stratified analysis showing an increased risk of large DWI lesions in severe CAS with greater MAP change (≥44 mmHg) (OR 3.48, 95% CI 1.13-10.74) but not with mild MAP change (<44 mmHg) (OR 1.21, 95% CI 0.20-7.34). INTERPRETATION: Total cSVD burden is associated with small DWI lesions, whereas the degree of CAS is associated with large DWI lesions, specifically with greater MAP change, suggesting that large-artery atherosclerosis may be involved in ischemic brain injury, which is different from small-vessel pathogenesis in ICH.

[Clinical analysis of families with generalized epilepsy with febrile seizures plus].

OBJECTIVE: To investigate the clinical phenotypes and hereditary patterns of the generalized epilepsy with febrile seizures plus (GEFS+). METHODS: Detailed family trees were constructed by inquire and physical examinations for the probands of the 15 pedigrees of GEFS+. Some patients received electroencephalography, cranial CT or MRI examination. The seizures and epilepsy syndromes were classified according to the 2001 Seizure International Classification. The clinical data of GEFS+ were reviewed. RESULTS: The 15 families consisted of 196 individuals. Seventy-five individuals were confirmed with epilepsy. The phenotypes of 64 out of the 75 patients with epilepsy conformed to GEFS+. The 64 patients included 38 males and 26 females (1 deceased) and there was no gender difference in the morbility of GEFS+. The age at onset was all in childhood. GEFS+ had a diversity of phenotypes. Febrile seizures (FS) were confirmed in 44 patients, FS and myoclonic seizure in 1, febrile seizures plus (FS+) in 13, FS+ and absence seizure in 2, FS+ and myoclonic seizure in 1, and FS+ and focal seizure in 3. CONCLUSIONS: The heterogeneity of phenotypes and genetics may be the hallmarks of GEFS+. FS and FS+ are common phenotypes while FS+ and absence seizure, FS+ and myoclonic seizure, and FS+ and focal seizure are rare. If one of the parents is affected in a GEFS+ family, the susceptibility of their children to GEFS+ is the same no matter what gender of their children is. It is speculated that the hereditary pattern of GEFS+ conforms to autosomal dominant inheritance.