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排序方式: 共有211条查询结果,搜索用时 459 毫秒
1.
Sofya N Pchelina Andrei F Yakimovskii Olga N Ivanova Anton K Emelianov Andrei H Zakharchuk Alexander L Schwarzman 《Movement disorders》2006,21(12):2234-2236
Among mutations associated with autosomal dominant and sporadic Parkinson's disease (PD) the G2019S substitution in the leucine-rich repeat kinase 2 (LRRK2) gene is the most frequently identified. To estimate its frequency in Russia, we analyzed 208 patients with PD from the Northwestern region of Russia. Of these, 51 patients were probands from families with PD compatible with autosomal dominant inheritance. The control group represented 161 subjects without neurological disorders settled in the same region. The frequency of the G2019S mutation was greater in familial PD (2 [3.9%] of 51) than in sporadic PD (1 [0.6%] of 157). In addition, this mutation was found in the proband's father, who also had PD, in 1 PD family, and in 1 carrier without signs of PD at age 40 in another PD family. All carriers were heterozygous for the G2019S mutation and reported the Ashkenazi Jewish origin. The mutation was not found in the control group. 相似文献
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Timothy R. Holden MD MS Manish N. Shah MD MPH Tommy A. Gibson Robert E. Weiss PhD Annick N. Yagapen MPH CCRP Susan E. Malveau MSBE David H. Adler MD MPH Aveh Bastani MD Christopher W. Baugh MD MBA Jeffrey M. Caterino MD MPH Carol L. Clark MD MBA Deborah B. Diercks MD MPH Judd E. Hollander MD Bret A. Nicks MD MHA Daniel K. Nishijima MD MAS Kirk A. Stiffler MD Alan B. Storrow MD Scott T. Wilber MD Benjamin C. Sun MD MPP 《Academic emergency medicine》2018,25(8):880-890
Objectives
Syncope and near‐syncope are common in patients with dementia and a leading cause of emergency department (ED) evaluation and subsequent hospitalization. The objective of this study was to describe the clinical trajectory and short‐term outcomes of patients who presented to the ED with syncope or near‐syncope and were assessed by their ED provider to have dementia.Methods
This multisite prospective cohort study included patients 60 years of age or older who presented to the ED with syncope or near‐syncope between 2013 and 2016. We analyzed a subcohort of 279 patients who were identified by the treating ED provider to have baseline dementia. We collected comprehensive patient‐level, utilization, and outcomes data through interviews, provider surveys, and chart abstraction. Outcome measures included serious conditions related to syncope and death.Results
Overall, 221 patients (79%) were hospitalized with a median length of stay of 2.1 days. A total of 46 patients (16%) were diagnosed with a serious condition in the ED. Of the 179 hospitalized patients who did not have a serious condition identified in the ED, 14 (7.8%) were subsequently diagnosed with a serious condition during the hospitalization, and an additional 12 patients (6.7%) were diagnosed postdischarge within 30 days of the index ED visit. There were seven deaths (2.5%) overall, none of which were cardiac‐related. No patients who were discharged from the ED died or had a serious condition in the subsequent 30 days.Conclusions
Patients with perceived dementia who presented to the ED with syncope or near‐syncope were frequently hospitalized. The diagnosis of a serious condition was uncommon if not identified during the initial ED assessment. Given the known iatrogenic risks of hospitalization for patients with dementia, future investigation of the impact of goals of care discussions on reducing potentially preventable, futile, or unwanted hospitalizations while improving goal‐concordant care is warranted.6.
Mark A. Espeland PhD Jose A. Luchsinger MD MPH Rebecca H. Neiberg MS Owen Carmichael PhD Paul J. Laurienti PhD Xavier Pi‐Sunyer MD Rena R. Wing PhD Delilah Cook CCRP Edward Horton MD Ramon Casanova PhD Kirk Erickson PhD R. Nick Bryan MD the Action for Health in Diabetes Brain Magnetic Resonance Imaging Research Group 《Journal of the American Geriatrics Society》2018,66(1):120-126
Objectives
To determine whether long‐term behavioral intervention targeting weight loss through increased physical activity and reduced caloric intake would alter cerebral blood flow (CBF ) in individuals with type 2 diabetes mellitus.Design
Postrandomization assessment of CBF.Setting
Action for Health in Diabetes multicenter randomized controlled clinical trial.Participants
Individuals with type 2 diabetes mellitus who were overweight or obese and aged 45 to 76 (N = 310).Interventions
A multidomain intensive lifestyle intervention (ILI ) to induce weight loss and increase physical activity for 8 to 11 years or diabetes support and education (DSE ), a control condition.Measurements
Participants underwent cognitive assessment and standardized brain magnetic resonance imaging (MRI ) (3.0 Tesla) to assess CBF an average of 10.4 years after randomization.Results
Weight changes from baseline to time of MRI averaged ?6.2% for ILI and ?2.8% for DSE (P < .001), and increases in self‐reported moderate or intense physical activity averaged 444.3 kcal/wk for ILI and 114.8 kcal/wk for DSE (P = .03). Overall mean CBF was 6% greater for ILI than DSE (P = .04), with the largest mean differences between ILI and DSE in the limbic region (3.39 mL /100 g per minute, 95% confidence interval (CI ) = 0.07–6.70 mL /100 g per minute) and occipital lobes (3.52 mL /100 g per minute, 95% CI = 0.20–6.84 mL /100 g per minute). In ILI , greater CBF was associated with greater decreases in weight and greater increases in physical activity. The relationship between CBF and scores on a composite measure of cognitive function varied between intervention groups (P = .02).Conclusions
Long‐term weight loss intervention in overweight and obese adults with type 2 diabetes mellitus is associated with greater CBF .7.
B. Spund Y. Ding T. Liu I. Selesnick S. Glazman E. M. Shrier I. Bodis-Wollner 《Journal of neural transmission (Vienna, Austria : 1996)》2013,120(5):745-753
To quantify the thickness of the inner retinal layers in the foveal pit where the nerve fiber layer (NFL) is absent, and quantify changes in the ganglion cells and inner plexiform layer. Pixel-by-pixel volumetric measurements were obtained via Spectral-Domain optical coherence tomography (SD-OCT) from 50 eyes of Parkinson disease (PD) (n = 30) and 50 eyes of healthy control subjects (n = 27). Receiver operating characteristics (ROC) were used to classify individual subjects with respect to sensitivity and specificity calculations at each perifoveolar distance. Three-dimensional topographic maps of the healthy and PD foveal pit were created. The foveal pit is thinner and broader in PD. The difference becomes evident in an annular zone between 0.5 and 2 mm from the foveola and the optimal (ROC-defined) zone is from 0.75 to 1.5 mm. This zone is nearly devoid of NFL and partially overlaps the foveal avascular zone. About 78 % of PD eyes can be discriminated from HC eyes based on this zone. ROC applied to OCT pixel-by-pixel analysis helps to discriminate PD from HC retinae. Remodeling of the foveal architecture is significant because it may provide a visible and quantifiable signature of PD. The specific location of remodeling in the fovea raises a novel concept for exploring the mechanism of oxidative stress on retinal neurons in PD. OCT is a promising quantitative tool in PD research. However, larger scale studies are needed before the method can be applied to clinical follow-ups. 相似文献
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Sofya V. Lushchekina Alexander V. Nemukhin Sergei D. Varfolomeev Patrick Masson 《Journal of molecular neuroscience : MN》2014,52(3):434-445
Cholinesterases display a hysteretic behavior with certain substrates and irreversible inhibitors. For years, this behavior has remained puzzling. However, several lines of evidence indicated that it is caused by perturbation of the catalytic triad and its water environment. In the present study, using molecular dynamics simulations of Ala328Cys BuChE mutant and wild-type BuChE in the absence and presence of a co-solvent (sucrose, glycerol), we provide evidence that hysteresis originates in a flip of the catalytic triad histidine (His438). This event is controlled by water molecules that interact with active site residues. The physiological significance of this phenomenon is still an issue. 相似文献
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