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Usher syndrome (USH) is an autosomal recessive disease characterized by hearing loss, retinitis pigmentosa (RP), and, in some cases, vestibular dysfunction. It is clinically and genetically heterogeneous and is the most common cause underlying deafness and blindness of genetic origin. Clinically, USH is divided into three types. Usher type I (USH1) is the most severe form and is characterized by severe to profound congenital deafness, vestibular areflexia, and prepubertal onset of progressive RP. Type II (USH2) displays moderate to severe hearing loss, absence of vestibular dysfunction, and later onset of retinal degeneration. Type III (USH3) shows progressive postlingual hearing loss, variable onset of RP, and variable vestibular response. To date, five USH1 genes have been identified: MYO7A (USH1B), CDH23 (USH1D), PCDH15 (USH1F), USH1C(USH1C), and USH1G(USH1G). Three genes are involved in USH2, namely, USH2A (USH2A), GPR98 (USH2C), and DFNB31 (USH2D). USH3 is rare except in certain populations, and the gene responsible for this type is USH3A.

Background: We analyzed the effects of the SARS-CoV-2 pandemic on neurologic emergencies, depending on the patients' triage score in a setting with relatively few COVID-19 cases and without lack of resources., Methods: Consecutive patients of a tertiary care center with a dedicated neurologic emergency room (nER) were analyzed. The time period of the first lockdown in Germany (calendar weeks 12-17, 2020) was retrospectively compared to the corresponding period in 2019 regarding the number of patients presenting to the nER, the number of patients with specific triage scores (Heidelberg Neurological Triage Score), the number of patients with stroke, and the quality of stroke care., Results: A total of 4330 patients were included. Fewer patients presented themselves in 2020 compared to 2019 (median [interquartile range] per week: 134 [118-143] vs. 187 [182-192]; p = 0.015). The median numbers of patients per week with triage 1 (emergent) and 4 (non-urgent) were comparable (51 [43-58] vs. 59 [54-62]; p = 0.132, and 10 [4-16] vs. 16 [7-18]; p = 0.310, respectively).The median number of patients per week declined in categories 2 and 3 in 2020 (41 [37-45] vs. 57 [52-61]; p = 0.004, and 28 [23-35] vs. 61 [52-63]; p = 0.002, respectively. No change was observed in the absolute number of strokes (138 in 2019 and 141 in 2020). Quality metrics of stroke revascularization therapies (symptom-to-door time, door-to-needle time or relative number of therapies) and stroke severity remained constant., Conclusion: During the lockdown period in 2020, the number of patients with emergent symptoms remained constant, while fewer patients with urgent symptoms presented to the nER. This may imply behavioral changes in care-seeking behavior., (© 2020 The Authors. European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology.)

This study analysed the association between discrimination and satisfaction with life (SWL) in migrant groups by investigating whether different types of social support (SS; emotional, instrumental, and informational) and networks (family, immigrant and native friends, neighbours, and the community) buffer the negative effects of discrimination on SWL among migrant men and women from different backgrounds. Participants were 631 migrants from Latin America and China residing in Malaga (Spain). We identified behaviour patterns that suggest that SS has different effects on men and women from the same place of origin and similar effects on women and men from different places of origin. In conclusion, the main differences in the effects of SS as a buffer mechanism are not determined by cultural factors. It is more likely that they are determined by differential gender-role socialization, which would lead women to positively value social support., (© 2020 Wiley Periodicals LLC.)

Migration is an example of adaptation with enduring effects over time and in different cultures. Few studies have analyzed the effect of the sense of community (SOC) on satisfaction with life (SWL) over time while taking into account the moderating effects of sociodemographic characteristics. We propose a model that explains the influence of time of residence on the SOC and SWL. It was hypothesized that the SOC has a positive influence on SWL and that SWL is moderated by sociodemographic characteristics and cultural differences. Participants were 2,211 immigrants residing in Malaga (Spain). Results show a positive association between years of residence and the SOC and the SWL. A positive association was found between the SOC and SWL. This study shows the relevance of analyzing the moderating effects of sociodemographic characteristics in different immigrant groups rather than according to the migration process as a whole to develop specific intervention strategies., (© 2019 Wiley Periodicals, Inc.)

Resting-state studies conducted with stroke patients are scarce. First objective was to explore whether patients with good cognitive recovery showed differences in resting-state functional patterns of brain activity when compared to patients with poor cognitive recovery. Second objective was to determine whether such patterns were correlated with cognitive performance. Third objective was to assess the existence of prognostic factors for cognitive recovery. Eighteen right-handed stroke patients and eighteen healthy controls were included in the study. Stroke patients were divided into two groups according to their cognitive improvement observed at three months after stroke. Probabilistic independent component analysis was used to identify resting-state brain activity patterns. The analysis identified six networks: frontal, fronto-temporal, default mode network, secondary visual, parietal, and basal ganglia. Stroke patients showed significant decrease in brain activity in parietal and basal ganglia networks and a widespread increase in brain activity in the remaining ones when compared with healthy controls. When analyzed separately, patients with poor cognitive recovery (n=10) showed the same pattern as the whole stroke patient group, while patients with good cognitive recovery (n=8) showed increased activity only in the default mode network and fronto-temporal network, and decreased activity in the basal ganglia. We observe negative correlations between basal ganglia network activity and performance in Semantic Fluency test and Part A of the Trail Making Test for patients with poor cognitive recovery. A reverse pattern was observed between frontal network activity and the above mentioned tests for the same group. ., (Copyright © 2014 The Authors. Human Brain Mapping published by Wiley Periodicals, Inc.)

Background and Purpose: The natural history of acute ischemic stroke (AIS) due to anterior circulation large artery occlusion is not well established. This information is essential for assessment of clinical benefit derived from recanalization therapies., Methods: Patients with AIS due to anterior circulation large artery occlusion not treated with reperfusion therapies admitted from January 2005 to September 2010 were consecutively selected. Site of occlusion was assessed with transcranial duplex according to Thrombolysis in Brain Infarction (TIBI) grades. Poor outcome was considered as a modified Rankin Scale>2 at 90 days., Results: A total of 120 patients were studied. Site of occlusion was terminal internal carotid artery (TICA) in 13 (10.8%), proximal middle cerebral artery (MCA) in 69 (57.5%), and distal MCA in 38 (31.7%) patients. Overall, 74.2% of patients had poor outcome. There were significant differences in poor outcome between patients with TICA, proximal MCA, and distal MCA occlusion (92%, 87%, 47%, P < .001) and mortality at 90 days (23%, 12%, 3%, P = .001)., Conclusions: Outcome of AIS patients with anterior circulation large artery occlusion not treated with reperfusion therapies is extremely poor in TICA and proximal MCA occlusions with better outcomes noted in distal MCA occlusions. These findings are relevant for estimation of treatment effect of reperfusion therapies according to occlusion location., (Copyright © 2013 by the American Society of Neuroimaging.)

Background and Purpose: To test whether time to recanalization is associated with a progressive risk of symptomatic intracerebral haemorrhage (SICH) after intravenous alteplase (IVT), we conducted a serial transcranial duplex monitoring study up to 24 h after IVT in a cohort of 140 patients with acute ischaemic stroke attributed to large artery occlusion in the anterior circulation., Methods: Patients were classified in four groups according to the time to complete recanalization (Thrombolysis in Brain Ischaemia, TIBI grades 4 or 5) after alteplase bolus: <2 h (n = 53), 2-6 h (n = 9), 6-24 h (n = 32) and no recanalization (NR) at 24 h (n = 46). SICH was defined as any haemorrhagic transformation with National Institute of Health Stroke Scale (NIHSS) score worsening ≥ 4 points (European Australian Acute Stroke Study II, ECASS II criteria) or parenchymal haematoma type 2 with neurological worsening (SITS-MOST criteria) in the 24-36 h CT. Favourable outcome was defined as modified Rankin score ≤ 2 at 3 months., Results: There were no differences between the groups of patients who recanalized at each time frame regarding localization of the occlusion (P = 0.29), stroke severity at baseline (P = 0.22) and age (P = 0.06). SICH (ECASS/SITS-MOST) was observed in 5.7%/5.7% of the patients who recanalized in <2 h, in 0%/0% of the patients who recanalized between 2-6 h, in 3.1%/3.1% of the patients who recanalized within 6-24 h and in 2.2%/0% of those patients who did not recanalize at 24 h. The rate of favourable outcome according to the time of recanalization was 79.2%, 50%, 46.9% and 34.1% (P < 0.001)., Conclusions: Our findings are in line with the literature showing a relationship between time to recanalization and functional outcome after IVT in acute stroke, but they do not confirm a progressive increase in the rate of SICH., (© 2012 The Author(s) European Journal of Neurology © 2012 EFNS.)

Background: Pre-treatment with antiplatelet agents (AP) is present amongst 30% of acute stroke patients. Previous studies have shown conflicting results on the effect of these drugs regarding haemorrhagic transformation after thrombolytic therapy. The hypothesis that pre-treatment with AP may increase the risk of cerebral haemorrhage (ICH) after intravenous tissue plasminogen activator (tPA) was assessed., Methods: Retrospective study of consecutive prospectively registered patients with acute ischaemic stroke treated with iv tPA (n = 235) in the last 5 years. Baseline characteristics and prior AP therapy were registered on admission. Computed tomography (CT) scan was performed on admission and 24-36 h after tPA. ICH was classified according to the ECASS II criteria into haemorrhagic infarction and parenchymal haematoma (PH). Symptomatic intracerebral haemorrhage (SICH) was defined as a worsening of > or = 4 points in the NIHSS score during the first 36 h in any haemorrhage subtype., Results: Seventy-two (30.6%) patients were pre-treated with AP (55 aspirin, 14 clopidogrel, 2 aspirin + clopidogrel, 1 triflusal). PH was observed in 33 (14.1%) patients (PH1 13, PH2 12, PHr 8) of whom 16 were symptomatic. Male gender (78.8% vs. 21.2%, P = 0.036), prior AP therapy (54.5% vs. 26.9%, P = 0.001), stroke severity (median NIHSS, 17 vs. 12, P = 0.005) and early CT signs of infarction (12.5% vs. 2.1%, P = 0.004) were associated with PH. The adjusted odds ratios of PH for patients pre-treated with AP therapy was 3.5 (1.5-7.8, P = 0.002) and for SICH 1.9 (0.6-5.9, P = 0.2)., Conclusions: Pre-treatment with AP is associated with an increased risk of PH after intravenous thrombolysis in patients with acute ischaemic stroke.

Background and Purpose: Brachial arterial flow-mediated dilation (FMD) reflects endothelium-dependent vasodilation function. FMD is diminished in patients with endothelial dysfunction (ED). Our aim was to investigate the relationship between FMD and outcome for patients with acute ischemic stroke., Methods: We measured FMD in 120 consecutive patients (58.3% male, median age 73 years) with acute ischemic stroke within the first 48 h of onset of the stroke, using high-resolution ultrasonography. FMD was calculated as the relationship between basal diameter of the brachial artery before (d(1)) and after (d(2)) transient vascular occlusion (300 mmHg for 4 min) was measured using a sphygmomanometer (FMD = d(2) - d(1)/d(1) x 100). Poor outcome was defined as modified Rankin Scale at 3 months >2. FMD was categorized according to ROC analysis and we defined ED as FMD < or = 4.5%., Results: Thirty-three patients (27.5%) had ED. Median % FMD was 9.12 (7.48). FMD negatively correlated to stroke severity (P = 0.045). Median FMD was significantly lower [4.5 (2.3, 10.3) vs. 9.4 (5.6, 15.1), P = 0.003] for patients with poor outcome (n = 38). The adjusted odds ratio of poor outcome for FMD < or = 4.5% was 3.03 (95% CI, 1.09-27.3)., Conclusions: Impaired FMD in patients with acute ischemic stroke is associated with poor outcome.

Objective: To determine the relationship between body temperature (BT), arterial recanalization, functional outcome, and hemorrhagic transformation (HT) of cerebral infarction in patients treated with i.v. tissue plasminogen activator (tPA)., Methods: We studied 254 patients treated with tPA within 3 h from stroke onset. National Institute of Health Stroke Scale score, BT, and transcranial Doppler ultrasound (n = 99) on admission and at 24 h were recorded. Hypodensity volume and HT were evaluated on CT at 24-36 h. Poor outcome (Rankin Scale > 2) was evaluated at 3 months., Results: Arterial recanalization at 24 h was found in 70.7% of patients, HT in 24.8% (symptomatic in 4.7%) and poor outcome in 44.1%. Baseline BT was not associated with greater stroke severity at admission or at 24 h, HT or poor outcome. However, BT at 24 h correlated to stroke severity (P < 0.001) and hypodensity volume (P < 0.001) at 24 h, and was higher in patients who did not recanalize (P = 0.001), had symptomatic HT (P = 0.063) and poor outcome (P < 0.001). The adjusted odds ratio of poor outcome for patients with BT at 24 h > or = 37 degrees C was 2.56 (1.19-5.50, P = 0.016)., Conclusion: Body temperature > or =37 degrees C at 24 h, but not at baseline, is associated with a lack of recanalization, greater hypodensity volume and worse outcome in stroke patients treated with tPA.

Although statins are being used for secondary prevention of ischemic stroke, recent experimental data have shown new pleiotropic effects of these drugs responsible for their role in neuroprotection. We conducted a pilot, double-blind, randomized, multicenter clinical trial to study for the first time safety and efficacy of simvastatin in the acute phase of ischemic stroke. Simvastatin/placebo was given at 3-12 h from symptom onset to 60 patients with cortical strokes. Efficacy on the evolution of several inflammation markers [interleukin (IL)-6, IL-8, IL-10, monocyte chemoattractant protein-1, intercellular adhesion molecule-1, vascular cell adhesion molecule-1, C-reactive protein, sApo/Fas, tumor necrosis factor-alpha, E-selectin, L-selectin and nitrites+nitrates] and neurological outcome was evaluated at baseline, day 1, 3, 5, 7 and 90. No differences were found amongst the biomarkers studied regarding treatment allocation. Although simvastatin patients improved significantly by the third day (46.4% vs. 17.9%, P = 0.022), a non-significant increase in mortality and greater proportion of infections (odds ratio 2.4, confidence interval 1.06-5.4) in the simvastatin group were the main safety concerns. Therefore, a larger clinical trial is needed to confirm the net benefit of this therapeutic approach.