Importance: While mutations in glucocerebrosidase (GBA1) are associated with an increased risk for Parkinson disease (PD), it is important to establish whether such mutations are also a common risk factor for other Lewy body disorders.Objective: To establish whether GBA1 mutations are a risk factor for dementia with Lewy bodies (DLB). Design:We compared genotype data on patients and controls from 11 centers. Data concerning demographics, age at onset, disease duration, and clinical and pathological features were collected when available. We conducted pooled analyses using logistic regression to investigate GBA1 mutation carrier status as predicting DLB or PD with dementia status, using common control subjects as a reference group. Random-effects meta-analyses were conducted to account for additional heterogeneity.Setting: Eleven centers from sites around the world performing genotyping.Participants: Seven hundred twenty-one cases met diagnostic criteria for DLB and 151 had PD with dementia.We compared these cases with 1962 controls from the same centers matched for age, sex, and ethnicity.Main Outcome Measures: Frequency of GBA1 mutations in cases and controls.Results: We found a significant association between GBA1 mutation carrier status and DLB, with an odds ratio of 8.28 (95% CI, 4.78-14.88). The odds ratio for PD with dementia was 6.48 (95% CI, 2.53-15.37). The mean age at diagnosis of DLB was earlier in GBA1 mutation carriers than in noncarriers (63.5 vs 68.9 years; P Ͻ.001), with higher disease severity scores.Conclusions and Relevance: Mutations in GBA1 are a significant risk factor for DLB. GBA1 mutations likely play an even larger role in the genetic etiology of DLB than in PD, providing insight into the role of glucocerebrosidase in Lewy body disease.
Penetrating traumatic brain injury is associated with deficits in cognitive tasks including comprehension and memory, and also with impairments in tasks of daily living. In naturalistic settings, one important component of cognitive task performance is event segmentation, the ability to parse the ongoing stream of behavior into meaningful units. Event segmentation ability is associated with memory performance and with action control, but is not well assessed by standard neuropsychological assessments or laboratory tasks. Here, we measured event segmentation and memory in a sample of 123 male military veterans aged 59–81 who had suffered a traumatic brain injury as young men, and 34 demographically similar controls. Participants watched movies of everyday activities and segmented them to identify fine-grained or coarse-grained events, and then completed tests of recognition memory for pictures from the movies and of memory for the temporal order of actions in the movies. Lesion location and volume were assessed with computed tomography imaging. Patients with traumatic brain injury were impaired on event segmentation. Those with larger lesions had larger impairments for fine segmentation and also impairments for both memory measures. Further, the degree of memory impairment was statistically mediated by the degree of event segmentation impairment. There was some evidence that lesions to the ventromedial prefrontal cortex (vmPFC) selectively impaired coarse segmentation; however, lesions outside of a priori regions of interest also were associated with impaired segmentation. One possibility is that the effect of vmPFC damage reflects the role of prefrontal event knowledge representations in ongoing comprehension. These results suggest that assessment of naturalistic event comprehension can be a valuable component of cognitive assessment in cases of traumatic brain injury, and that interventions aimed at event segmentation could be clinically helpful.
Kidney transplant recipients (KTRs) have greater morbidity and length of stay (LOS) following certain surgical procedures than non-KTR. Given that appendectomy is one of the most common surgical procedures, we investigated differences in outcomes between 1336 KTR and 2 640 247 non-KTR postappendectomy at transplant and nontransplant centers in the United States from 2000 to 2011, using NIS data and adjusting for patient-level and hospital-level factors. Postoperative complications were identified using ICD-9 codes. Among KTR, there were no post-appendectomy in-hospital deaths, compared to a 0.2% in non-KTR (P = .5). Overall complications were similar among KTR and non-KTR (17.0% vs 11.6%; aOR: 1.12 ). LOS and costs were greater for KTR compared to non-KTR (LOS ratio 1.31 ; cost ratio 1.17 ). Only 44.8% of KTR had laparoscopic approach compared to 54.5% of non-KTR, but had similar complication rates (10.6 vs 8.7%, P = .5). When treated at transplant centers, KTR had similar complications (aOR 0.79 ), but longer LOS (ratio 1.37 ) and greater hospital-associated costs (ratio 1.29 ) than non-KTR. Conversely, at nontransplant centers, KTR and non-KTR had similar complications (aOR 1.23 ), LOS (ratio 0.96 ), and cost (ratio 1.01 ). Contrary to other procedures, KTR did not constitute a high-risk group for patients undergoing appendectomy.
Introduction 9-valent human papillomavirus vaccine (9vHPV) was approved by the Food and Drug Administration (FDA) in December 2014. 9vHPV is not recommended during pregnancy but it is possible that some women of childbearing age might be inadvertently exposed prior to knowing they are pregnant. This study aims to assess the safety of 9vHPV administration during pregnancy. Methods We searched the Vaccine Adverse Event Reporting System (VAERS) database, a national post-licensure vaccine safety surveillance system, for reports of pregnant women vaccinated with 9vHPV in the United States between December 10, 2014 and December 31, 2017. Disproportionate reporting of adverse events (AEs) was assessed using proportional reporting ratios (PRRs). Results A total of 82 pregnancy reports were identified. Sixty reports (73.2%) did not describe an AE and were submitted only to report the vaccine exposure during pregnancy. The most frequently reported pregnancy-specific AE was spontaneous abortion (n = 3; 3.7%), followed by vaginal bleeding (n = 2; 2.4%). Among non-pregnancy-specific AEs, injection site reaction (n = 3; 3.7%) was most common. No disproportional reporting for any AE was found. Discussion No unexpected AEs were observed among these pregnancy reports.
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