ABSTRACT We report a patient with autism-like deficits in emotional connectedness, executive dysfunction, and ataxia beginning at age 39. He had compound heterozygous variants in SPG7 (A510V and 1552+1 G>T substitutions), mutation of which is classically associated with spastic paraparesis. Diffusion MRI demonstrated abnormalities in the cerebellar outflow tracts. Transcranial magnetic stimulation showed a prolonged cortical silent period representing exaggerated cortical inhibition, as previously described with pure cerebellar degeneration. The acquired cerebellar cognitive affective syndrome in association with specific anatomic and neurophysiological abnormalities in the cerebellum expand the spectrum of SPG7-related neurodegeneration and support a role for cerebellar output in socio-emotional behavior. 相似文献
During the ongoing public health crisis, many agencies are reporting COVID-19 health outcome information based on the overall population. This practice can lead to misleading results and underestimation of high risk areas. To gain a better understanding of spatial and temporal distribution of COVID-19 deaths; the long term care facility (LTCF) and household population (HP) deaths must be used. This approach allows us to better discern high risk areas and provides policy makers with reliable information for community engagement and mitigation strategies. By focusing on high-risk LTCFs and residential areas, protective measures can be implemented to minimize COVID-19 spread and subsequent mortality. These areas should be a high priority target when COVID-19 vaccines become availableDuring the current public health crisis, many agencies and media outlets are reporting COVID-19 health outcome information based on the overall population of Cook County. As we have demonstrated, overall COVID-19 case counts and mortality can be misleading (details in >Story Map 1). Moreover, they offer little guidance for delivering public health interventions to high risk populations, a critical need during this second and potentially more devastating wave of the pandemic. The University of Illinois Chicago School of Public Health’s Public Health Geographic Information System Program (UIC-SPH-PHGIS) and Purdue research team has been examining spatial and temporal patterns of COVID-19 mortality with a focus on the significant loss of life from COVID-19 among Long-Term Care Facility (LTCF) residents in contrast to mortality in the community among residents of private households (non-LTCF; referred to as household population, HP). The goals of the study are:
Improve the accuracy of commonly quoted COVID-19 mortality indicators;
Gain a better understanding of spatial and temporal distribution of COVID-19 deaths;
Examine the role of race, ethnicity, and socioeconomic status in COVID-19 mortality;
Identify population and organizational parameters that can inform strategies for public health interventions.
Prioritizing the allocation of resources based on reliable information is a prerequisite of a successful mitigation strategy and immunization plan. Findings from our research have significant practical implications. The state and federal government face a series of policy decisions both due to the recent surge in positive cases and, when the time comes, the need to rationalize distribution of vaccines to high priority groups beyond healthcare workers and nursing home residents in critical areas. The research team seeks to modify prevailing practices in order to derive reliable information that guides policy decisions. At this stage of the study, we identified high-risk LTCFs and residential areas (HP) of Cook County from readily available, real-time mortality data. 相似文献
AbstractObjectives: Overlapping decreases in extrastriatal dopamine D2/D3-receptor availability and glucose metabolism have been reported in subjects with schizophrenia. It remains unknown whether these findings are physiologically related or coincidental.Methods: To ascertain this, we used two consecutive 18F-fluorodeoxyglucose and 18F-fallypride positron emission tomography scans in 19 healthy and 25 unmedicated schizophrenia subjects. Matrices of correlations between 18F-fluorodeoxyglucose uptake and 18F-fallypride binding in voxels at the same xyz location and AFNI-generated regions of interest were evaluated in both diagnostic groups.Results:18F-fluorodeoxyglucose uptake and 18F-fallypride binding potential were predominantly positively correlated across the striatal and extrastriatal grey matter in both healthy and schizophrenia subjects. In comparison to healthy subjects, significantly weaker correlations in subjects with schizophrenia were confirmed in the right cingulate gyrus and thalamus, including the mediodorsal, lateral dorsal, anterior, and midline nuclei. Schizophrenia subjects showed decreased D2/D3-receptor availability in the hypothalamus, mamillary bodies, thalamus and several thalamic nuclei, and increased glucose uptake in three lobules of the cerebellar vermis.Conclusions: Dopaminergic system may be involved in modulation of grey matter metabolism and neurometabolic coupling in both healthy human brain and psychopathology. Hyperdopaminergic state in untreated schizophrenia may at least partly account for the corresponding decreases in grey matter metabolism. 相似文献
ObjectiveTo evaluate the outcomes after septal myectomy in patients with obstructive hypertrophic cardiomyopathy according to atrial fibrillation and surgical ablation of atrial fibrillation.MethodsWe reviewed patients with obstructive hypertrophic cardiomyopathy who underwent septal myectomy at the Mayo Clinic from 2001 to 2016. History of atrial fibrillation was obtained from patient histories and electrocardiograms. All-cause mortality was the primary end point.ResultsA total of 2023 patients underwent septal myectomy, of whom 394 (19.5%) had at least 1 episode of atrial fibrillation preoperatively. Among patients with atrial fibrillation, 76 (19.3%) had only 1 known episode, 278 (70.6%) had recurrent paroxysmal atrial fibrillation, and 40 (10.2%) had persistent atrial fibrillation. Surgical ablation was performed in 190 patients at the time of septal myectomy, including 148 with pulmonary vein isolation and 42 with the classic maze procedure. Among all patients, operative mortality was 0.4%, and there were no early deaths in patients undergoing surgical ablation. Over a median follow-up of 5.6 years, patients with preoperative atrial fibrillation had increased mortality (hazard ratio, 1.36; 95% confidence interval, 0.97-1.91; P = .070) after multivariable adjustment for comorbidities. When considering the impact of atrial fibrillation with or without surgical treatment, the adjusted hazard ratio for mortality in patients undergoing ablation compared with no ablation was 0.93 (95% confidence interval, 0.52-1.69; P = .824).ConclusionsAtrial fibrillation is present preoperatively in one-fifth of patients with obstructive hypertrophic cardiomyopathy undergoing myectomy and showed a trend toward higher all-cause mortality. Survival of patients undergoing septal myectomy with preoperative atrial fibrillation was similar between those who did and did not receive concomitant surgical ablation. 相似文献
Graphical abstract summarizing the overall results of our study comparing reintervention for a main or central branch pulmonary artery reconstruction site and various patch materials. Autologous pericardium was associate with the lowest reintervention and was free. Multivariable analysis demonstrated lack of superiority of homograft branch patch, which clearly has a much higher cost.
