bluuebunny/crossref_metadata_2025_split huggingface dataset:
Compound and Digenic Heterozygosity Predicts Lifetime Arrhythmic Outcome and Sudden Cardiac Death in Desmosomal Gene–Related Arrhythmogenic Right Ventricular Cardiomyopathy
Authors: Rigato Ilaria , Bauce Barbara , Rampazzo Alessandra , Zorzi Alessandro , Pilichou Kalliopi , Mazzotti Elisa , Migliore Federico , Marra Martina Perazzolo , Lorenzon Alessandra , De Bortoli Marzia , Calore Martina , Nava Andrea , Daliento Luciano , Gregori Dario , Iliceto Sabino , Thiene Gaetano , Basso Cristina , Corrado Domenico 
Published: September 2013

Background—
Mutations in genes encoding for desmosomal proteins are the most common cause of arrhythmogenic right ventricular cardiomyopathy (ARVC). We assessed the value of genotype for prediction of lifetime major arrhythmic events and sudden cardiac death (SCD) in desmosomal gene–related ARVC.

Methods and Results—

The overall study population included 134 desmosomal gene mutation carriers (68 men; median age 36 years [22–52]) from 44 consecutive ARVC families undergoing comprehensive genetic screening. The probability of experiencing a first major arrhythmic event or SCD during a lifetime was determined by using date of birth as start point for the time-to-event analysis, and was stratified by sex, desmosomal genes, mutation types, and genotype complexity (single versus multiple mutations). One hundred thirteen patients (84%) carried a single desmosomal gene mutation in desmoplakin (n=44; 39%), plakophilin-2 (n=38; 34%), desmoglein-2 (n=30; 26%), and desmocollin-2 (n=1; 1%), whereas 21 patients (16%) had a complex genotype with compound heterozygosity in 7 and digenic heterozygosity in 14. Over a median observation period of 39 (22–52) years, 22 patients (16%) from 20 different families had arrhythmic events, such as SCD (n=1), aborted SCD because of ventricular fibrillation (n=6), sustained ventricular tachycardia (n=14), and appropriate defibrillator intervention (n=1). Multiple desmosomal gene mutations and male sex were independent predictors of lifetime arrhythmic events with a hazard ratio of 3.71 (95% confidence interval, 1.54–8.92;
P
=0.003) and 2.76 (95% confidence interval, 1.19–6.41;
P
=0.02), respectively.

Conclusions—
Compound/digenic heterozygosity was identified in 16% of ARVC-causing desmosomal gene mutation carriers and was a powerful risk factor for lifetime major arrhythmic events and SCD. These results support the use of comprehensive genetic screening of desmosomal genes for arrhythmic risk stratification in ARVC.
Racial Differences in the Prevalence and Outcomes of Atrial Fibrillation Among Patients Hospitalized With Heart Failure
Authors: Thomas Kevin L. , Piccini Jonathan P. , Liang Li , Fonarow Gregg C. , Yancy Clyde W. , Peterson Eric D. , Hernandez Adrian F. ,   Tthe Get With the Guidelines Steering Committee and Hospitals
Published: September 2013

Background

The intersection of heart failure (
HF
) and atrial fibrillation (
AF
) is common, but the burden of
AF
among black patients with
HF
is poorly characterized. We sought to determine the prevalence of
AF
, characteristics, in‐hospital outcomes, and warfarin use associated with
AF
in patients hospitalized with
HF
as a function of race.

Methods and Results

We analyzed data on 135 494 hospitalizations from January 2006 through January 2012 at 276 hospitals participating in the
A
merican
H
eart
A
ssociation's
G
et
W
ith
T
he
G
uidelines
HF
Program. Multivariable logistic regression models using generalized estimating equations approach for risk‐adjusted comparison of
AF
prevalence, in‐hospital outcomes, and warfarin use. In this
HF
population, 53 389 (39.4%) had
AF
. Black patients had markedly less
AF
than white patients (20.8% versus 44.8%,
P
<0.001). Adjusting for risk factors and hospital characteristics, black race was associated with significantly lower odds of
AF
(
adjusted odds ratio
0.52, 95%
CI
0.48 to 0.55,
P
<0.0001). There were no racial differences in in‐hospital mortality; however, black patients had a longer length of stay relative to white patients. Black patients compared with white patients with
AF
were less likely to be discharged on warfarin (
adjusted odds ratio
0.76, 95%
CI
0.69 to 0.85,
P
<0.001).

Conclusions

Despite having many risk factors for
AF
, black patients, relative to white patients hospitalized for
HF
, had a lower prevalence of
AF
and lower prescription of guideline‐recommended warfarin therapy.
Oxidative Stress Interferes With White Matter Renewal After Prolonged Cerebral Hypoperfusion in Mice
Authors: Miyamoto Nobukazu , Maki Takakuni , Pham Loc-Duyen D. , Hayakawa Kazuhide , Seo Ji Hae , Mandeville Emiri T. , Mandeville Joseph B. , Kim Kyu-Won , Lo Eng H. , Arai Ken 
Published: September 2013

Background and Purpose—
White matter injury caused by cerebral hypoperfusion may contribute to the pathophysiology of vascular dementia and stroke, but the underlying mechanisms remain to be fully defined. Here, we test the hypothesis that oxidative stress interferes with endogenous white matter repair by disrupting renewal processes mediated by oligodendrocyte precursor cells (OPCs).

Methods—

In vitro, primary rat OPCs were exposed to sublethal CoCl
2
for 7 days to induce prolonged chemical hypoxic stress. Then, OPC proliferation/differentiation was assessed. In vivo, prolonged cerebral hypoperfusion was induced by bilateral common carotid artery stenosis in mice. Then, reactive oxygen species production, myelin density, oligodendrocyte versus OPC counts, and cognitive function were evaluated. To block oxidative stress, OPCs and mice were treated with the radical scavenger edaravone.

Results—
Prolonged chemical hypoxic stress suppressed OPC differentiation in vitro. Radical scavenging with edaravone ameliorated these effects. After 28 days of cerebral hypoperfusion in vivo, reactive oxygen species levels were increased in damaged white matter, along with the suppression of OPC-to-oligodendrocyte differentiation and loss of myelin staining. Concomitantly, mice showed functional deficits in working memory. Radical scavenging with edaravone rescued OPC differentiation, ameliorated myelin loss, and restored working memory function.

Conclusions—
Our proof-of-concept study demonstrates that after prolonged cerebral hypoperfusion, oxidative stress interferes with white matter repair by disrupting OPC renewal mechanisms. Radical scavengers may provide a potential therapeutic approach for white matter injury in vascular dementia and stroke.
Satellite-Based Reconstruction of the Tropical Oceanic Clear-Sky Outgoing Longwave Radiation and Comparison with Climate Models
Authors: Gastineau Guillaume , Soden Brian J. , Jackson Darren L. , O’Dell Chris W. 
Published: September 2013

Abstract
The changes of the outgoing longwave radiation (OLR) in clear-sky conditions have been calculated using High Resolution Infrared Radiation Sounder (HIRS) observations from 1979 to 2004. After applying corrections for satellite orbital drift and intercalibration of the HIRS/2 data from the NOAA satellites, the OLR is calculated from a multivariate regression over the tropical ocean region. The clear-sky OLR retrievals compare well with the observed top-of-atmosphere radiation measurements, although the precision and stability uncertainties are larger. While the tropical ocean surface temperature has risen by roughly 0.2 K from 1982 to 2004, the reconstructed OLR remains stable over the ocean. Consequently, there is an increase in the clear-sky greenhouse effect (GHE) of 0.80 W m−2 decade−1. This trend is shown to be larger than the uncertainty in the stability of the HIRS retrievals.
The observations are compared with two phase 3 of the Coupled Model Intercomparison Project model ensembles: one ensemble includes both natural and anthropogenic forcings [the twentieth-century (20C) ensemble] and the other ensemble only contains natural climate variability (the control ensemble). The OLR trend in the 20C simulations tends to be more negative than observed, although a majority is found to be within the observational uncertainty. Conversely, the response of the clear-sky OLR to SST is shown to be very similar in observations and models. Therefore, the trend differences between the 20C simulations and observations are likely because of internal climate variability or uncertainties in the external forcings. The observed increase in GHE is shown to be inconsistent with the control ensemble, indicating that anthropogenic forcings are required to reproduce the observed changes in GHE.
Social interaction among people with psychiatric disabilities – Does attending a day centre matter?
Authors: Argentzell Elisabeth , Leufstadius Christel , Eklund Mona 
Published: September 2013

Background: Engaging in social interaction has, for people with psychiatric disabilities, been shown to enhance well-being and the experience of meaning and to generally prevent the worsening of mental illness. Aim: The aim of the study was to investigate how day centre attendees differed from non-attendees regarding different aspects of social interaction and to investigate how occupational factors, including day centre attendance, and previously known predictors were related to social interaction in the study sample as a whole. Methods: A total of 93 day centre attendees and 82 non-attendees with psychiatric disabilities were examined regarding social interaction, subjective perception of occupation, activity level, sense of self-mastery and socio-demographic and clinical variables. Data were analysed with non-parametric statistics, mainly logistic regression. Results: Social support was mainly provided by informal caregivers such as family members. The day centre attendees had more social relations but did not experience better quality or closeness in their relationships than non-attendees. Important factors for social interaction were subjective perceptions of daily occupation, being married/cohabiting, self-mastery and severity of psychiatric symptoms. Conclusion: Alternative ways of enhancing social interactions in the community is needed, targeting the group’s feeling of satisfaction and value in daily life together with self-mastery.
Meniscus Tear Patterns in Relation to Skeletal Immaturity
Authors: Shieh Alvin , Bastrom Tracey , Roocroft Joanna , Edmonds Eric W. , Pennock Andrew T. 
Published: September 2013

Background: Meniscus tear patterns in the pediatric population have not been well described. Purpose: To delineate the pattern of meniscus tears and the likelihood of repair at the time of surgery in both children and adolescents. Study Design: Cross-sectional study; Level of evidence, 3. Methods: A retrospective review was performed on all patients between the ages of 10 and 19 years who underwent arthroscopic surgery for a meniscus injury at a single institution. Patients with open growth plates were classified as children, while those with closed growth plates were classified as adolescents. Demographic data were documented, including age, sex, body mass index (BMI), mechanism of injury, and time from injury to surgery. Operative reports and intraoperative photographs were used to assess the tear pattern (type, location, zone) as well as all concomitant procedures and injuries. Tears were classified as discoid, vertical, bucket-handle, radial, oblique, horizontal, fray, root detachment, or complex. Results: Of the 293 patients reviewed, 197 (67%) had lateral meniscus tears, 65 (22%) had medial meniscus tears, and 31 (11%) had tears to both menisci. The cohort was separated into 119 (41%) children (mean age, 13.5 years) and 174 (59%) adolescents (mean age, 16.4 years). Children were more likely to have discoid meniscus tears, lower BMI, and meniscus injuries not associated with ligamentous injuries ( P < .05). The rate of associated ligament injuries in children was 28% compared with 51% in adolescents. Overall, the most frequent tear pattern was complex (28%), followed by vertical (16%), discoid (14%), bucket-handle (14%), radial (10%), horizontal (8%), oblique (5%), fray (3%), and root detachment (2%). Complex tears were associated with boys (32% vs 20% in girls; P < .03) and greater mean BMI (27.4 vs 25.1 kg/m2 in those with noncomplex tears; P < .002), even when taking sex into account. Surgical repair was performed in 47% of all cases (56% in those treated within 3 months of injury vs 42% in those treated after 6 months; P < .03), and there was no difference in the repair rate between the two age groups (49% in children vs 46% in adolescents; P > .05). Conclusion: Adolescents and children sustain more complex meniscus injuries that are often less repairable than previously reported in the literature. Factors that are associated with greater tear complexity include male sex and obesity. Our findings also suggest that the earlier treatment of meniscus tears may increase the likelihood of repair in younger patients.
JC-virus seroconversion in multiple sclerosis patients receiving natalizumab
Authors: Outteryck Olivier , Zéphir Hélène , Salleron Julia , Ongagna Jean-Claude , Etxeberria Ana , Collongues Nicolas , Lacour Arnaud , Fleury Marie-Céline , Blanc Frédéric , Giroux Marianne , de Seze Jérôme , Vermersch Patrick 
Published: September 2013

Aim: The objectives of this study were to evaluate the rate of JC virus (JCV) seroconversion/seroreversion in a French cohort of multiple sclerosis (MS) patients receiving natalizumab (NTZ), describe the characteristics of this population, identify risk factors for JCV seropositivity and analyse the additional value of quantitative JCV serology results in this context. Methods: MS patients from two French MS centres, whose JCV serological status in 2011 while receiving NTZ was known ( n=357; first-generation enzyme-linked immunosorbent assay (ELISA) test (Gen1)), were proposed for inclusion in this study. We evaluated the rate of JCV seroconversion over a period of one year with a second-generation ELISA test (Gen2; n=303) and analysed the quantitative results. Multivariate analysis was performed to identify risk factors for JCV seropositivity. Results: Among the patients with Gen2 JCV serology ( n=303) that had been JCV-seronegative one year before ( n=165), the rate of JCV seroconversion was 26.67% (44/165). We observed a higher proportion of anti-JCV antibody seroconverters (14.5%) than expected (≤3%) but also increasing index values of anti-JCV antibody over time. Conclusion: Our data suggest that JCV reactivation occurs during NTZ therapy and leads to an increase in the anti-JCV antibodies titre, thus making them more easily detectable by the second-generation ELISA test.
Changes of brain resting state functional connectivity predict the persistence of cognitive rehabilitation effects in patients with multiple sclerosis
Authors: Parisi Laura , Rocca Maria A , Mattioli Flavia , Copetti Massimiliano , Capra Ruggero , Valsasina Paola , Stampatori Chiara , Filippi Massimo 
Published: September 2013

Objective: We investigated whether the efficacy of 12-week cognitive rehabilitation in MS patients persists six months after treatment termination and, together with resting state (RS) functional connectivity (FC), changes on neuropsychological performance at follow-up. Methods: Eighteen MS patients with cognitive deficits, assigned randomly either to undergo treatment ( n=9) or not ( n=9), underwent neuropsychological evaluation at baseline (t0), after 12 weeks of rehabilitation (t1) and at six-month follow-up (t2). RS fMRI was obtained at t0 and t1. Changes in neuropsychological performance and their correlations with RS FC modifications were assessed using longitudinal linear models. Results: At t2 vs. t0, compared with the control group, treated group patients improved in tests of attention, executive function, depression and quality of life (QoL). Neuropsychological scores in these tests at t2 were significantly correlated with RS FC changes in cognitive-related networks and RS FC of the anterior cingulum. RS FC changes in the default mode network predicted cognitive performance and less severe depression, whereas RS FC changes of the executive network predicted better QoL. Discussion: Changes in RS FC of cognitive-related networks helps to explain the persistence of the effects of cognitive rehabilitation after several months in relapsing–remitting multiple sclerosis patients and their improvement on depression and QoL scales.
The usefulness of brain MRI at onset in the differentiation of multiple sclerosis and seropositive neuromyelitis optica spectrum disorders
Authors: Huh So-Young , Min Ju-Hong , Kim Woojun , Kim Su-Hyun , Kim Ho Jin , Kim Byung-Jo , Kim Byoung Joon , Lee Kwang Ho 
Published: September 2013

Background: Although neuromyelitis optica (NMO) is a central nervous system (CNS) autoimmune disease distinct from multiple sclerosis (MS). NMO and NMO spectrum disorder (NMOSD) sometimes show asymptomatic lesions on brain magnetic resonance imaging (MRI) at onset, and even present with symptomatic brain involvement. Objectives: We investigated whether brain MRI at onset can be helpful for the differentiation of MS and NMOSD. Methods: We retrospectively analyzed initial brain MRIs, performed within three months of onset, in patients with MS ( n = 51) and anti-aquaporin4-antibody-positive patients with NMOSD ( n = 67). Results: NMOSD patients met the Paty (37%) and Barkhof (13%) criteria, and the criteria of the European Magnetic Imaging in MS (MAGNIMS) study group (9%), for MS. Ovoid lesions perpendicular to the lateral ventricle, isolated juxtacortical lesions in U-fibers and isolated ovoid/round cortical lesions were found only in MS patients, whereas longitudinal corticospinal tract lesions, extensive hemispheric lesions, periependymal lesions surrounding the lateral ventricle and cervicomedullary lesions were found only in NMOSD patients. Conclusions: Our study suggests that it is difficult to differentiate MS from NMOSD by the fulfillment of the MRI criteria for MS on brain MRI at onset; however, the characteristic morphology of brain lesions is highly useful for the early differentiation of the two disorders.
Impact on hospital performance of introducing routine patient reported outcome measures in surgery
Authors: Varagunam Mira , Hutchings Andrew , Neuburger Jenny , Black Nick 
Published: September 2013

Objectives To determine the impact of introducing patient reported outcome measures (PROMs) on the selection of patients for surgery and on outcome for four elective operations (hip replacement, knee replacement, varicose vein surgery and groin hernia repair). Methods Patient-level data from the National PROMs programme for England from April 2009 to March 2012 were analysed to determine the extent of change in mean preoperative scores and mean adjusted postoperative scores using disease-specific and generic PROMs assessed using standardized effect sizes (SESs). Variation between providers was determined by intra-class correlation coefficients for each time period. Consistency in outlier ratings was tested using weighted Kappa statistics. Results There was little apparent impact. Preoperative severity increased slightly for two procedures only: varicose vein surgery (SES disease-specific PROM 0.10; generic PROM −0.07) and to a lesser extent for hip replacement (SES disease-specific PROM −0.03). There was little inter-provider variation and it did not change significantly over time. There were also slight improvements in outcomes for hip and knee replacement (SES for disease-specific and generic PROMs 0.03) though not for hernia repair and a slight worsening for varicose vein surgery. The extent of variation in performance between providers was unchanged. The proportion of providers deemed to be outliers did not change over time. There was only moderate consistency in those providers deemed to be outliers for hip and knee replacement (Kappa 0.31–0.47) and it was even weaker for the other two procedures. Although 35% of providers of hip replacement were outliers in at least one year, only 6% were consistently outliers. Such inconsistency may be partly due to regression to the mean. Conclusions The minimal impact that the routine use and feedback of PROMs had on provider behaviour during the initial years suggests that more attention needs to be paid to how results are communicated and to the provision of advice as to what action may be taken.
Publicly funded remuneration for the administration of injections by pharmacists
Authors: Houle Sherilyn K. D. , Grindrod Kelly A. , Chatterley Trish , Tsuyuki Ross T. 
Published: September 2013

Background: The administration of injections has become an increasingly common addition to pharmacists’ scope of practice. Four Canadian provinces, all US states and a number of other countries have regulations allowing pharmacists to administer injections. However, the extent to which such services are remunerated is unknown. Methods: We contacted regulatory and advocacy organizations within those jurisdictions where pharmacists are authorized to administer injections to identify publicly funded programs that pay pharmacists for these services, as well as details of the eligible drugs/vaccines. Patient or private insurer payment programs were excluded. Results: Of the 281 organizations we contact-ed, 104 provided information on a total of 34 pharmacist vaccination programs throughout Canada, the United States, England, Wales and Ireland. Converted to 2013 Canadian dollars, remuneration averages $13.12 (SD $4.63) per injection (range, $4.14-$21.21). All regions allow pharmacists to bill for administration of the influenza vaccine, while some states allow for a number of other vaccines. Alberta has the broadest range of injections eligible for remuneration. Discussion: Despite evidence of increased vaccination rates in areas allowing pharmacist administration of injections, the availability of publicly funded remuneration programs and the fee offered vary by more than 5-fold across North America and the United Kingdom. Conclusion: Pharmacist-administered injections have great public health potential. The range of injections eligible for remuneration should be expanded to include a wide range of vaccines and other injectable drugs, and remuneration should be sufficient to encourage more pharmacists to provide this service.
Working to establish ‘normality’ post-transplant: A qualitative study of kidney transplant patients
Authors: Boaz Annette , Morgan Myfanwy 
Published: September 2013

Objectives To explore patients’ perceptions and experiences of ‘normality’ and the influences on this at three time points post-transplant. Methods In-depth interviews with 25 patients at three months, one year and more than three years following kidney transplant. Patients’ accounts were compared with Sanderson et al.’s typology of types of normality. Findings Post-transplant, patients worked hard to re-establish normality, albeit in a ‘reset’ form. This normality was a very personal construct, shaped by a wide range of factors including age, gender and personal circumstances. Some patients encountered significant challenges in regaining normality, both at three months for those experiencing acute and distressing side effects, and later relating to the long-term side effects of transplant medication and co-morbidities. However, the most dramatic threat to normality (disrupted normality) came from episodes of rejection and transplant failure. Conclusions The main types of normality achieved vary for different conditions. Moreover, despite improvements in health post-transplant and opportunities to build a new, reset normality, the participants recognised the need to pay careful attention to the spectre of future ill health and transplant failure. Transplant failure was therefore a source of disruption that was central to their illness narratives and perceived as an ever present risk.