bluuebunny/crossref_metadata_2025_split huggingface dataset:
Array Comparative Genomic Hybridization Identifies a Heterozygous Deletion of the Entire
KCNJ2
Gene as a Cause of Sudden Cardiac Death
Authors: Marquis-Nicholson Renate , Prosser Debra O. , Love Jennifer M. , Zhang Liangtao , Hayes Ian , George Alice M. , Crawford Jackie R. , Skinner Jonathan R. , Love Donald R. 
Published: January 2014

Background—
Large gene rearrangements, not detectable by standard molecular genetic sequencing techniques, are present in a minority of patients with long QT syndrome. We aimed to screen for large rearrangements in genes responsible for long QT syndrome as part of the molecular autopsy of a 36-year-old woman who died suddenly and had a negative autopsy. A retrospective analysis of an ECG identified a long QT interval, but sequencing of known LQT genes was uninformative.

Methods and Results—

Array comparative genomic hybridization was used to screen for deletions and duplications in 101 genes implicated in cardiac disorders and sudden death using a postmortem blood sample. A 542 kb deletion encompassing the entire
KCNJ2
gene was identified in the decedent. The mother had electrocardiographic U-wave changes consistent with Andersen–Tawil syndrome and exaggerated by exercise but none of the characteristic noncardiac features. Fluorescence in situ hybridization confirmed the deletion in the decedent and established its presence in the mother.

Conclusions—

A novel application of array comparative genomic hybridization and fluorescence in situ hybridization has identified that long QT syndrome and sudden cardiac death may occur as a result of a deletion of an entire gene. The case also supports recent research suggesting that noncardiac features of Andersen–Tawil syndrome occur only with missense or minor gene rearrangements in the
KCNJ2
gene, resulting in a dominant negative effect on Kir2.x channels.
Predictors of Long-Term Outcomes in Patients With Significant Myxomatous Mitral Regurgitation Undergoing Exercise Echocardiography
Authors: Naji Peyman , Griffin Brian P. , Asfahan Fadi , Barr Tyler , Rodriguez L. Leonardo , Grimm Richard , Agarwal Shikhar , Stewart William J. , Mihaljevic Tomislav , Gillinov A. Marc , Desai Milind Y. 
Published: January 2014

Background—
Significant myxomatous mitral regurgitation leads to progressive left ventricular (LV) decline, resulting in congestive heart failure and death. Such patients benefit from mitral valve surgery. Exercise echocardiography aids in risk stratification and helps decide surgical timing. We sought to assess predictors of outcomes in such patients undergoing exercise echocardiography.

Methods and Results—

This is an observational study of 884 consecutive patients (age, 58±14 years; 67% men) with grade III+ or greater myxomatous mitral regurgitation who underwent exercise echocardiography between January 2000 and December 2011 (excluding functional mitral regurgitation, prior valvular surgery, hypertrophic cardiomyopathy, rheumatic valvular disease, or greater than mild mitral stenosis). Clinical and echocardiographic data (mitral regurgitation, LV ejection fraction, LV dimensions, right ventricular systolic pressure) and exercise variables (metabolic equivalents, heart rate recovery at 1 minute after exercise) were recorded. Composite events of death, myocardial infarction, stroke, and progression to congestive heart failure were recorded. Mean LV ejection fraction, indexed LV end-systolic dimension, resting right ventricular systolic pressure, peak stress right ventricular systolic pressure, metabolic equivalents achieved, and heart rate recovery were 58±5%, 1.6±0.4 mm/m
2
, 31±12 mm Hg, 46±17 mm Hg, 9.6±3, and 33±14 beats, respectively. During 6.4±4 years of follow-up, there were 87 events. On stepwise multivariable Cox analysis, percent of age/sex-predicted metabolic equivalents (hazard ratio, 0.99; 95% confidence interval, 0.98–0.99;
P
=0.005), heart rate recovery (hazard ratio, 0.29; 95% confidence interval, 0.17–0.50;
P
<0.001), resting right ventricular systolic pressure (hazard ratio, 1.03; 95% confidence interval, 1.004–1.05;
P
=0.02), atrial fibrillation (hazard ratio, 1.91; 95% confidence interval, 1.07–3.41;
P
=0.03), and LV ejection fraction (hazard ratio, 0.96; 95% confidence interval, 0.92–0.99;
P
=0.04) predicted outcomes.

Conclusions—
In patients with grade III+ or greater myxomatous mitral regurgitation undergoing exercise echocardiography, lower percent of age/sex-predicted metabolic equivalents, lower heart rate recovery, atrial fibrillation, lower LV ejection fraction, and high resting right ventricular systolic pressure predicted worse outcomes.
Transmastoid Approach to Spontaneous Temporal Bone Cerebrospinal Fluid Leaks: Hearing Improvement and Success of Repair
Authors: Kim Leslie , Wisely Clayton Ellis , Dodson Edward E. 
Published: January 2014

ObjectiveTo determine whether the transmastoid approach to repair of spontaneous temporal bone cerebrospinal fluid (CSF) leak is safe and effective and if improvement in conductive hearing loss is an achievable goal with this approach.Study DesignCase series with chart review.SettingTertiary academic medical center.Subjects and MethodsFifteen consecutive patients (16 ears) presented with spontaneous temporal bone CSF leaks over a 6‐year period. Clinical data, imaging, audiometry, operative reports, and postoperative course were reviewed.ResultsMedian age was 59.5 years. Mean body mass index was 40.7 kg/m2. All presented with chronic otorrhea after tympanostomy tube placement and conductive/mixed hearing loss. The mean preoperative air‐bone gap was 19 dB. A transmastoid approach alone was used in 15 cases; 1 underwent middle fossa craniotomy. Most defects were located in the tegmen mastoideum and tympani. All repairs were multilayered, typically using autologous mastoid bone, temporalis fascia, and tissue sealant. Primary repair was successful in 15 cases; 1 patient with persistent postoperative otorrhea subsequently underwent middle fossa craniotomy, but no frank leakage was found. No serious complications were encountered. Following transmastoid repair, postoperative audiograms were available for 14 patients. The mean improvement in air‐bone gap was 12 dB. Closure of the air‐bone gap to ≤12 dB occurred in 100% of cases.ConclusionThe transmastoid approach to repair of spontaneous temporal bone CSF leak is highly successful. Furthermore, patients in this series had excellent hearing results with closure of their air‐bone gap to ≤12 dB, which has not been previously described.
Exploring SEER‐Medicare for Changes in the Treatment of Laryngeal Cancer among Elderly Medicare Beneficiaries
Authors: Jean Raymond A. , Kallogjeri Dorina , Strope Seth A. , Hardin Frances Mei , Rich Jason T. , Piccirillo Jay F. 
Published: January 2014

ObjectiveTo explore the change in frequency of treatment, and its association with 5‐year survival, among elderly Medicare enrollees with squamous cell carcinoma of the larynx (SCCL).Study DesignRetrospective analysis of a national cancer database.Subjects and MethodsThis was an analysis of the Surveillance, Epidemiology, and End Results (SEER)–Medicare data set of elderly patients diagnosed with SCCL between 1992 and 2007. Surgical and nonsurgical treatments were identified, and changes in frequency by year of cancer diagnosis were explored. A propensity‐matched multivariate Cox proportional hazards model was used to compare the impact of treatment.ResultsThere were 3324 cases of primary SCCL diagnosed between 1992 and 2007 studied. Most were male (n = 2605; 78%), white (n = 2845; 87%), and between 66 and 74 years of age (n = 1874; 56%). Between 1992 and 2005, there was a significant trend for increasing 5‐year overall survival (43% in 1992 to 54% in 2005‐2007; P <. 01). There was a significant trend for decreasing frequency of surgical therapy (47% in 1992‐1995 to 41% in 2005‐2007; P =. 03). Surgical therapy was associated with a decreased risk of overall mortality (hazard ratio, 0.76; 95% confidence interval, 0.68‐0.86) in comparison to nonsurgical treatments.ConclusionThe analysis demonstrates an increase in survival among elderly Medicare enrollees diagnosed with SCCL between 1992 and 2007. Despite a significant trend for its decreasing use, there was a significantly decreased risk of overall mortality associated with surgical therapy.
Effects of autologous priming on blood conservation after cardiac surgery
Authors: Teman NR , Delavari N , Romano MA , Prager RL , Yang B , Haft JW 
Published: January 2014

Objective: Cardiopulmonary bypass can result in hemodilution due to the crystalloid prime, increasing the need for blood transfusion. Alternative perfusion techniques have the potential to decrease this hemodilution. The objective of this study was to determine whether a protocol of retrograde autologous prime (RAP) and venous antegrade prime (VAP) reduces the need for blood transfusion and increases the hematocrit following cardiac surgery. Methods: We performed a retrospective review of 140 consecutive non-randomized patients who underwent cardiac surgery with cardiopulmonary bypass between November 2011 and September 2012. RAP and VAP techniques were used in 70 patients while the other 70 were managed with conventional perfusion strategies. The primary outcome measure was a composite outcome of any blood transfusion or a discharge hematocrit less than 27%. Results: Baseline demographics and patient characteristics were similar between the two groups, with the exception of the RAP/VAP group having a lower baseline creatinine. There was a trend toward decreased perioperative blood transfusions in the RAP/VAP group (13/70, 19%) compared with the non-RAP/VAP group (23/70, 33%, p=0.053). RAP/VAP patients had a significantly higher hematocrit at hospital discharge (30.0 ± 4.3% vs. 28.3 ± 4.1%, p=0.012). The number of patients receiving a transfusion or being discharged with an hematocrit less than 27% was significantly less in the RAP/VAP group (21 vs. 41, p=0.001). This effect persisted on multivariable analysis. Conclusions: RAP and VAP perfusion techniques may reduce hemodilution, potentially resulting in less blood transfusions and higher postoperative hematocrits. These techniques should be considered in all patients undergoing cardiac surgery with cardiopulmonary bypass.
Impact and appreciation of two methods aiming at reducing hazardous drug environmental contamination: The centralization of the priming of IV tubing in the pharmacy and use of a closed-system transfer device
Authors: Guillemette Annie , Langlois Hélène , Voisine Maxime , Merger Delphine , Therrien Roxane , Mercier Genevieve , Lebel Denis , Bussières Jean-François 
Published: January 2014

Objectives The main objective was to evaluate the impact of two methods aiming at reducing hazardous drug environmental contamination: the centralization of the priming of IV tubing in the pharmacy and the use of a closed-system transfer device. The secondary objective was to evaluate the satisfaction of pharmacy technicians using a survey. Methods Sites in the hematology-oncology satellite pharmacy and care unit were analyzed for the presence of cyclophosphamide, ifosfamide and methotrexate before and after the centralization of the priming of IV tubing in the pharmacy and before and after using a closed-system transfer device. The limits of detection for cyclophosphamide, ifosfamide and methotrexate were, respectively, of 0.0015 ng/cm2, 0.0012 ng/cm2 and 0.0060 ng/cm2. The pharmacy technician satisfaction was evaluated using a questionnaire. Results A total of 225 samples was quantified. After the centralization of priming in the pharmacy, no significant difference was found in the proportion of positive samples for cyclophosphamide, ifosfamide and methotrexate. Traces of cyclophosphamide found on the floor in patient care areas was significantly reduced (median[min-max] 0.08[0.06−0.09]ng/cm2 vs. 0.03[0.02−0.05], p < 0.0001). After using a closed-system transfer device, a significant difference was found for the proportion of cyclophosphamide positive samples (15/45(33%) vs. 0/45(0%), p < 0.0001), but no significant difference was found for ifosfamide (12/45(27%) vs. 5/45(11%), p = 0.059) and methotrexate (1/45(2%) vs. 2/45(4%), p = 0.557). Pharmacy technicians raised issues following the centralization of priming (e.g. workload) and the use of closed-system transfer devices (e.g. spills, particles, workload and handling difficulties). Conclusion The centralization of the priming of IV tubing in the pharmacy reduced floor contamination in patient care areas without increasing surface contamination in the pharmacy. Closed-system transfer devices reduced contamination in pharmacy, but handling issues were raised by pharmacy technicians.
Wrongful convictions and the Blackstone ratio: An empirical analysis of public attitudes
Authors: de Keijser Jan W , de Lange Evianne GM , van Wilsem Johan A 
Published: January 2014

When deciding on the issue of guilt, a judge or jury can make two types of error: convicting an innocent person (false positive) or acquitting a guilty person (false negative). The Blackstone ratio addresses the relation between false positive and false negative verdicts. The ratio depends on how much certainty the judicial decision-maker requires before convicting an accused. This article describes an experimental study of Dutch community views about the Blackstone ratio. It was hypothesized that public views on this issue may depend on seriousness of the offence. Moreover, it is expected that providing balanced information on the consequences of both convicting an innocent and acquitting a guilty person would result in more deliberated and informed public judgement on the Blackstone ratio. We manipulated both the seriousness of the crime and information about the consequences of false positive and false negative verdicts. Findings reveal that public reactions to the criteria for deciding upon guilt or innocence are dynamic and vary with the seriousness of the crime. The provision of information relating to the two types of judicial error had no significant effect on public attitudes.
Bortezomib inhibits STAT5-dependent degradation of LEF-1, inducing granulocytic differentiation in congenital neutropenia CD34+ cells
Authors: Gupta Kshama , Kuznetsova Inna , Klimenkova Olga , Klimiankou Maksim , Meyer Johann , Moore Malcolm A. S. , Zeidler Cornelia , Welte Karl , Skokowa Julia 
Published: January 2014

Key PointsHyperactivated STAT5a binds LEF-1 protein leading to NLK/NARF/ubiquitin-dependent degradation of LEF-1 followed by defective granulopoiesis. In CN patients, elevated levels of phospho-STAT5a resulted in diminished LEF-1 expression, which could be restored by bortezomib treatment.
Maternal obesity and fetal deaths: results from the Brazilian cross-sectional demographic health survey, 2006
Authors: Felisbino-Mendes Mariana Santos , Matozinhos Fernanda Penido , Miranda J Jaime , Villamor Eduardo , Velasquez-Melendez Gustavo 
Published: January 2014

Abstract

Background
Obesity is highly related to negative reproductive health outcomes, but its relationship with spontaneous abortion and stillbirth remains to be understood, especially in transitioning economies. This study aimed to examine the relationship between obesity and spontaneous abortions and stillbirths in a representative sample of the Brazilian population.

Methods
Cross-sectional study using secondary data of Brazilian women of reproductive age (15–45 years old) from the National Demographic and Health Survey in 2006. Obesity was measured by body mass index (BMI), waist circumference (WC) and waist-to-height ratio (WHR). Logistic regression modeling of the survey data was used to evaluate the relationship between obesity and the study outcomes.

Results
The three obesity markers used were found to be strongly and positively associated with spontaneous abortion and stillbirth occurrence. In the adjusted models, there was strong evidence that for each unit increase in BMI (OR = 1.05; 95%CI: 1.02-1.08) and WHR (OR = 1.32; 95%CI: 1.03-1.69), the odds of having a spontaneous abortion was higher. In addition, compared to those of optimal weight, obese women were more likely to have negative outcomes. Maternal age, parity, skin color, educational level and household income were important covariates for adjustment. A sensitivity analysis among women who had only one pregnancy was also performed and showed similar results.

Conclusion
Obesity is potentially associated with an increased risk of spontaneous abortion and stillbirth in a representative sample of the Brazilian population. These findings are in accordance with previous studies and thus reinforce the need for obstetric care providers to counsel obese reproductive-age women regarding the risks, complications and importance of weight loss and weight control prior to pregnancy.
Healthcare managers in negative media focus: a qualitative study of personification processes and their personal consequences
Authors: Wramsten Wilmar Maria , Ahlborg Gunnar , Jacobsson Christian , Dellve Lotta 
Published: January 2014

Abstract

Background
Over the last decade healthcare management and managers have increasingly been in focus in public debate. The purpose of the present study was to gain a deeper understanding of how prolonged, unfavorable media focus can influence both the individual as a person and his or her managerial practice in the healthcare organization.

Methods
In-depth interviews (n = 49) with 24 managers and their superiors, or subordinate human resources/information professionals, and partners were analyzed using a grounded theory approach.

Results
The conceptual model explains how perceived uncertainties related to the managerial role influence personification and its negative consequences. The role ambiguities comprised challenges regarding the separation of individual identity from the professional function, the interaction with intra-organizational support and political play, and the understanding and acceptance of roles in society. A higher degree of uncertainty in role ambiguity increased both personification and the personal reaction to intense media pressure. Three types of reactions were related to the feeling of being infringed: avoidance and narrow-mindedness; being hard on self, on subordinates, and/or family members; and resignation and dejection. The results are discussed so as to elucidate the importance of support from others within the organization when under media scrutiny.

Conclusions
The degree of personification seems to determine the personal consequences as well as the consequences for their managerial practice. Organizational support for managers appearing in the media would probably be beneficial for both the manager and the organization.
On Caputo modification of the Hadamard fractional derivatives
Authors: Gambo Yusuf Y. , Jarad Fahd , Baleanu Dumitru , Abdeljawad Thabet 
Published: January 2014

Abstract
This paper is devoted to the study of Caputo modification of the Hadamard fractional derivatives. From here and after, by Caputo-Hadamard derivative, we refer to this modified fractional derivative (Jarad et al. in Adv. Differ. Equ. 2012:142, 2012, p.7). We present the generalization of the fundamental theorem of fractional calculus (FTFC) in the Caputo-Hadamard setting. Also, several new related results are presented.
Unilateral pedal lymphangiography with non-contrast computerized tomography is valuable in the location and treatment decision of idiopathic chylothorax
Authors: Liu Ding-Yi , Shao Yuan , Shi Jian-Xin 
Published: January 2014

Abstract

Purpose
To identify the value of unilateral pedal lymphangiography (LAG) with non-contrast CT in the location and treatment decision of idiopathic chylothorax after failure of thoracic duct ligation.

Materials and Methods
Twenty four patients aged 9–84 year old (median 44 yr) who had idiopathic chylothorax were involved, and unilateral pedal LAG with non-contrast CT was performed in every patient. All patients failed to previous right supra-diaphragmatic thoracic duct ligation.

Results
The amount of iodized oil used was 6–14 ml with no related complications. LAG demonstrated 8 patients with thoracic duct leaks and 10 patients with leaks elsewhere, but no visible chylous leak in 6 patients. Ligation of thoracic duct was performed as the primary treatment in all 8 cases as having thoracic duct leakage and cured 7(87.5%) patients. For 8 patients not having thoracic duct lesion under LAG, the successful rate of thoracic duct ligation was 25% (2 out of 8 patients), which was significantly lower than patients due to thoracic duct lesions (P = 0.02). Meanwhile, non-operative therapy had significantly higher successful rate (87.5% vs 25%, P = 0.02).

Conclusions
Unilateral pedal LAG with non-contrast CT could identify the causes and locate the leaks of idiopathic chylothorax in 75% of patients after failure of thoracic duct ligation. Two thirds of patients were found not to have thoracic duct leakage and would be better managed by non-operative treatment.
Evaluation of the lower protein limit in the budding yeast Saccharomyces cerevisiae using TIPI-gTOW
Authors: Sasabe Masataka , Shintani Sayumi , Kintaka Reiko , Kaizu Kazunari , makanae Koji , Moriya Hisao 
Published: January 2014

Abstract

Background
Identifying permissible limits of intracellular parameters such as protein expression provides important information for examining robustness. In this study, we used the TEV protease-mediated induction of protein instability (TIPI) in combination with the genetic Tug-of-War (gTOW) to develop a method to measure the lower limit of protein level. We first tested the feasibility of this method using ADE2 as a marker and then analyzed some cell cycle regulators to reveal genetic interactions.

Results
Using TIPI-gTOW, we successfully constructed a strain in which GFP-TDegFAde2 was expressed at the lower limit, just sufficient to support cellular growth under the -Ade condition by accelerating degradation by TEV protease. We also succeeded in constructing a strain in which the minimal level of GFP-TDegFCdc20 was expressed by TIPI-gTOW. Using this strain, we studied genetic interactions between cell cycle regulators and CDC20, and the result was highly consistent with the previously identified interactions. Comparison of the experimental data with predictions of a mathematical model revealed some interactions that were not implemented into the current model.

Conclusions
TIPI-gTOW is useful for estimating changes in the lower limit of a protein under different conditions, such as different genetic backgrounds and environments. TIPI-gTOW is also useful for analyzing genetic interactions of essential genes whose deletion mutants cannot be obtained.