scholarly journals Identifying neurodevelopmental anomalies of white matter microstructure associated with high risk for psychosis in 22q11.2DS

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Joëlle Bagautdinova ◽  
Maria C. Padula ◽  
Daniela Zöller ◽  
Corrado Sandini ◽  
Maude Schneider ◽  
...  

AbstractDisruptions of white matter microstructure have been widely reported in schizophrenia. However, the emergence of these alterations during preclinical stages remains poorly understood. 22q11.2 Deletion Syndrome (22q11.2DS) represents a unique model to study the interplay of different risk factors that may impact neurodevelopment in premorbid psychosis. To identify the impact of genetic predisposition for psychosis on white matter development, we acquired longitudinal MRI data in 201 individuals (22q11.2DS = 101; controls = 100) aged 5–35 years with 1–3 time points and reconstructed 18 white matter tracts using TRACULA. Mixed model regression was used to characterize developmental trajectories of four diffusion measures—fractional anisotropy (FA), axial (AD), radial (RD), and mean diffusivity (MD) in each tract. To disentangle the impact of additional environmental and developmental risk factors on white matter maturation, we used a multivariate approach (partial least squares (PLS) correlation) in a subset of 39 individuals with 22q11.2DS. Results revealed no divergent white matter developmental trajectories in patients with 22q11.2DS compared to controls. However, 22q11.2DS showed consistently increased FA and reduced AD, RD, and MD in most white matter tracts. PLS correlation further revealed a significant white matter-clinical risk factors relationship. These results indicate that while age-related changes are preserved in 22q11.2DS, white matter microstructure is widely disrupted, suggesting that genetic high risk for psychosis involves early occurring neurodevelopmental insults. In addition, multivariate modeling showed that clinical risk factors further impact white matter development. Together, these findings suggest that genetic, developmental, and environmental risk factors may play a cumulative role in altering normative white matter development during premorbid stages of psychosis.

2013 ◽  
Vol 146 (3) ◽  
pp. 543-549.e1 ◽  
Author(s):  
Michael J. Rivkin ◽  
Christopher G. Watson ◽  
Lisa A. Scoppettuolo ◽  
David Wypij ◽  
Sridhar Vajapeyam ◽  
...  

2021 ◽  
Vol 296 ◽  
pp. 113665
Author(s):  
Gamze Gürcan ◽  
Şevin Hun Şenol ◽  
A. Elif Anıl Yağcıoğlu ◽  
Aygün Ertuğrul

2010 ◽  
Vol 30 (1) ◽  
pp. 58-73 ◽  
Author(s):  
Paul T. Seed ◽  
Lucy C. Chappell ◽  
Michael A. Black ◽  
Katrina K. Poppe ◽  
Yuan-Chun Hwang ◽  
...  

2016 ◽  
Vol 37 (12) ◽  
pp. 1440-1445 ◽  
Author(s):  
Lauren Epstein ◽  
Nimalie D. Stone ◽  
Lisa LaPlace ◽  
Jane Harper ◽  
Ruth Lynfield ◽  
...  

OBJECTIVETo facilitate surveillance and describe the burden of healthcare-associated infection (HAI) in nursing homes (NHs), we compared the quality of resident-level data collected by NH personnel and external staff.DESIGNA 1-day point-prevalence surveySETTING AND PARTICIPANTSOverall, 9 nursing homes among 4 Centers for Disease Control and Prevention (CDC) Emerging Infection Program (EIP) sites were included in this study.METHODSNH personnel collected data on resident characteristics, clinical risk factors for HAIs, and the presence of 3 HAI screening criteria on the day of the survey. Trained EIP surveillance officers collected the same data elements via retrospective medical chart review for comparison; surveillance officers also collected available data to identify HAIs (using revised McGeer definitions). Overall agreement was calculated among residents identified by both teams with selected risk factors and HAI screening criteria. The impact of using NH personnel to collect screening criteria on HAI prevalence was assessed.RESULTSThe overall prevalence of clinical risk factors among the 1,272 residents was similar between NH personnel and surveillance officers, but the level of positive agreement (residents with factors identified by both teams) varied between 39% and 87%. Surveillance officers identified 253 residents (20%) with ≥1 HAI screening criterion, resulting in 67 residents with an HAI (5.3 per 100 residents). The NH personnel identified 152 (12%) residents with ≥1 HAI screening criterion; 42 residents had an HAI (3.5 per 100 residents).CONCLUSIONWe identified discrepancies in resident-level data collection between surveillance officers and NH personnel, resulting in varied estimates of the HAI prevalence. These findings have important implications for the design and implementation of future HAI prevalence surveys.Infect Control Hosp Epidemiol 2016;1440–1445


2020 ◽  
Vol 41 (21) ◽  
pp. 1988-1999 ◽  
Author(s):  
Neal A Chatterjee ◽  
Jani T Tikkanen ◽  
Gopi K Panicker ◽  
Dhiraj Narula ◽  
Daniel C Lee ◽  
...  

Abstract Aims To determine whether the combination of standard electrocardiographic (ECG) markers reflecting domains of arrhythmic risk improves sudden and/or arrhythmic death (SAD) risk stratification in patients with coronary heart disease (CHD). Methods and results The association between ECG markers and SAD was examined in a derivation cohort (PREDETERMINE; N = 5462) with adjustment for clinical risk factors, left ventricular ejection fraction (LVEF), and competing risk. Competing outcome models assessed the differential association of ECG markers with SAD and competing mortality. The predictive value of a derived ECG score was then validated (ARTEMIS; N = 1900). In the derivation cohort, the 5-year cumulative incidence of SAD was 1.5% [95% confidence interval (CI) 1.1–1.9] and 6.2% (95% CI 4.5–8.3) in those with a low- and high-risk ECG score, respectively (P for Δ < 0.001). A high-risk ECG score was more strongly associated with SAD than non-SAD mortality (adjusted hazard ratios = 2.87 vs. 1.38 respectively; P for Δ = 0.003) and the proportion of deaths due to SAD was greater in the high vs. low risk groups (24.9% vs. 16.5%, P for Δ = 0.03). Similar findings were observed in the validation cohort. The addition of ECG markers to a clinical risk factor model inclusive of LVEF improved indices of discrimination and reclassification in both derivation and validation cohorts, including correct reclassification of 28% of patients in the validation cohort [net reclassification improvement 28 (7–49%), P = 0.009]. Conclusion For patients with CHD, an externally validated ECG score enriched for both absolute and proportional SAD risk and significantly improved risk stratification compared to standard clinical risk factors including LVEF. Clinical Trial Registration https://clinicaltrials.gov/ct2/show/NCT01114269. ClinicalTrials.gov ID NCT01114269.


Blood ◽  
2016 ◽  
Vol 128 (7) ◽  
pp. 911-922 ◽  
Author(s):  
Julie A. E. Irving ◽  
Amir Enshaei ◽  
Catriona A. Parker ◽  
Rosemary Sutton ◽  
Roland P. Kuiper ◽  
...  

Key Points Chromosomal abnormalities predict outcome after relapse in BCP-ALL, and high-risk cytogenetics takes precedence over clinical risk factors. Patients with mutations or deletions targeting TP53, NR3C1, BTG1, and NRAS were associated with clinical high risk and an inferior outcome.


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