bluuebunny/crossref_metadata_2025_split huggingface dataset:
Transgenic Expression and Genetic Variation of Lmf1 Affect LPL Activity in Mice and Humans
Authors: Hosseini Maryam , Ehrhardt Nicole , Weissglas-Volkov Daphna , Lai Ching-Mei , Mao Hui Z. , Liao Jo-Ling , Nikkola Elina , Bensadoun André , Taskinen Marja-Riitta , Doolittle Mark H. , Pajukanta Päivi , Péterfy Miklós 
Published: February 2012

Objective—
Lipoprotein lipase (LPL) is a principal enzyme in lipoprotein metabolism, tissue lipid utilization, and energy metabolism. LPL is synthesized by parenchymal cells in adipose, heart, and muscle tissues followed by secretion to extracellular sites, where lipolyic function is exerted. The catalytic activity of LPL is attained during posttranslational maturation, which involves glycosylation, folding, and subunit assembly within the endoplasmic reticulum. A lipase-chaperone, lipase maturation factor 1 (Lmf1), has recently emerged as a critical factor in this process. Previous studies demonstrated that loss-of-function mutations of Lmf1 result in diminished lipase activity and severe hypertriglyceridemia in mice and human subjects. The objective of this study is to investigate whether, beyond its role as a required factor in lipase maturation, variation in Lmf1 expression is sufficient to modulate LPL activity in vivo.

Methods and Results—

To assess the effects of Lmf1 overexpression in adipose and muscle tissues, we generated aP2-Lmf1 and Mck-Lmf1 transgenic mice. Characterization of relevant tissues revealed increased LPL activity in both mouse strains. In the omental and subcutaneous adipose depots, Lmf1 overexpression was associated with increased LPL specific activity without changes in LPL mass. In contrast, increased LPL activity was due to elevated LPL protein level in heart and gonadal adipose tissue. To extend these studies to humans, we detected association between
LMF1
gene variants and postheparin LPL activity in a dyslipidemic cohort.

Conclusion—
Our results suggest that variation in Lmf1 expression is a posttranslational determinant of LPL activity.
Left Atrial Diverticula in Patients Referred for Radiofrequency Ablation of Atrial Fibrillation
Authors: Peng Li-Qing , Yu Jian-Qun , Yang Zhi-Gang , Wu Dan , Xu Jian-Jun , Chu Zhi-Gang , Li Xue-Ming , Chen Dong-Dong , Luo Yi , Shao Heng , Tang Si-Shi , Chen Jing 
Published: February 2012

Background—
The anatomic features of left atrial diverticula (LAD) are still unclear in patients with atrial fibrillation (AF). The purpose of this study was to evaluate the prevalence and morphological characteristics of LAD in patients referred for radiofrequency transcatheter ablation of AF with dual-source computed tomography.

Methods and Results—

Dual-source computed tomography images were obtained in 214 patients referred for AF catheter ablation and 214 sex- and age-matched control subjects. Images were analyzed to determine the prevalence and morphological characteristics of LAD and their relationship with adjacent pulmonary veins and left atrial appendage. In AF patients 77 (36.0%) (95% confidence interval, 29.6–42.4%) had 90 LAD, whereas in control subjects 70 (32.7%) (95% confidence interval, 26.4–39.0%) had 81 LAD (
P
=0.551). In patients with AF, LAD locations were right anterosuperior (47.8%), left anterosuperior (8.9%), left lateral (32.2%), interatrial septum (4.4%), right inferior (5.6%), and posterosuperior (1.1%) walls, respectively. The mean size of LAD was 5.3±2.9×5.6±3.3 mm. The wall of the LAD was much thinner than that of adjacent left atrium (0.89±0.46 versus 2.39±0.83 mm). Most LAD were located close to a pulmonary vein or atrial appendage ostium, with a mean distance of 8.7–13.1 mm.

Conclusions—
LAD are common, with a prevalence of 36.0% in patients with AF, which is not statistically greater than that in patients without AF. Thin-walled LAD are more commonly located on the superior anterior wall of left atrium and close to common ablation sites.
A New Method for Cardiac Computed Tomography Regional Function Assessment
Authors: Pourmorteza Amir , Schuleri Karl H. , Herzka Daniel A. , Lardo Albert C. , McVeigh Elliot R. 
Published: February 2012

Background—
Quantitative assessment of regional myocardial function has important diagnostic implications in cardiac disease. Recent advances in CT imaging technology have allowed fine anatomic structures, such as endocardial trabeculae, to be resolved and potentially used as fiducial markers for tracking local wall deformations. We developed a method to detect and track such features on the endocardium to extract a metric that reflects local myocardial contraction.

Methods and Results—

First-pass CT images and contrast-enhanced cardiovascular magnetic resonance images were acquired in 8 infarcted and 3 healthy pigs. We tracked the left ventricle wall motion by segmenting the blood from myocardium and calculating trajectories of the endocardial features seen on the blood cast. The relative motions of these surface features were used to represent the local contraction of the endocardial surface with a metric we call Stretch Quantifier of Endocardial Engraved Zones (SQUEEZ). The average SQUEEZ value and the rate of change in SQUEEZ were calculated for both infarcted and healthy myocardial regions. SQUEEZ showed a significant difference between infarct and remote regions (
P
<0.0001). No significant difference was observed between normal myocardium (noninfarcted hearts) and remote regions (
P
=0.8).

Conclusions—
We present a new quantitative method for measuring regional cardiac function from high-resolution volumetric CT images, which can be acquired during angiography and myocardial perfusion scans. Quantified measures of regional cardiac mechanics in normal and abnormally contracting regions in infarcted hearts were shown to correspond well with noninfarcted and infarcted regions as detected by delayed enhancement cardiovascular magnetic resonance images.
Pseudocontinuous Arterial Spin Labeling Quantifies Relative Cerebral Blood Flow in Acute Stroke
Authors: Hernandez Daymara A. , Bokkers Reinoud P.H. , Mirasol Raymond V. , Luby Marie , Henning Erica C. , Merino José G. , Warach Steven , Latour Lawrence L. 
Published: February 2012

Background and Purpose—
The aim of this study was to test whether arterial spin labeling (ASL) can detect significant differences in relative cerebral blood flow (rCBF) in the core, mismatch, and reverse-mismatch regions, and whether rCBF values measured by ASL in those areas differ from values obtained using dynamic susceptibility contrast (DSC) MRI.

Methods—
Acute stroke patients were imaged with diffusion-weighted imaging (DWI) and perfusion-weighted imaging (ASL and DSC) MRI. An expert reader segmented the ischemic lesion on DWI and the DSC time-to-peak (TTP) maps. Three regions were defined: core (DWI+, TTP+), mismatch (DWI−, TTP+), and reverse-mismatch (DWI+, TTP−). For both ASL and DSC, rCBF maps were created with commercially available software, and the ratio was calculated as the mean signal intensity measured on the side of the lesion to that of the homologous region in the contralateral hemisphere. Values obtained from core, mismatch, and reverse-mismatch were used for paired comparison.

Results—
Twenty-eight patients were included in the study. The mean age was 65.6 (16.9) years, with a median baseline National Institutes of Health Stroke Scale score of 10 (interquartile range, 4–17). Median time from last known normal to MRI was 5.7 hours (interquartile range, 2.9–22.6). Mean rCBF ratios were significantly higher in the mismatch 0.53 (0.23) versus the core 0.39 (0.33) and reverse-mismatch 0.68 (0.49) versus the core 0.38 (0.35). Differences in rCBF measured with DSC and ASL were not significant.

Conclusions—
ASL allows for the measurement of rCBF in the core and mismatch regions. Values in the mismatch were significantly higher than in the core, suggesting there is potential salvageable tissue.
Telomere Length and Risk of Stroke in Chinese
Authors: Ding Hu , Chen Chen , Shaffer John R. , Liu Lei , Xu Yujun , Wang Xiaojing , Hui Rutai , Wang Dao Wen 
Published: February 2012

Background and Purpose—
Accumulating evidence suggests that telomere length is a maker for biological aging of the cardiovascular system. Whether stroke is associated with accelerated biological aging as measured by telomere length has not been conclusively demonstrated. Our aim was to determine whether mean leukocyte telomere length is a predictor for the development of stroke.

Methods—
The relative telomere length of leukocytes was determined by quantitative polymerase chain reaction in 1309 stroke patients and 1309 age- and sex-matched control subjects as well as 858 stroke patients followed prospectively for 5 years. For each measure, the study sample was divided into quartiles. The associations between the telomere length and risk of stroke as well as poststroke adverse outcomes were determined.

Results—
Mean telomere length was significantly shorter in stroke patients than in control subjects. Shorter telomere length levels were directly associated with a higher risk of stroke in the case/control sample. As compared with the fourth (longest) quartile, the odd ratios [OR] (and 95% confidence intervals [CI]) for ischemic stroke risk were as follows: third quartile, 1.37 (1.04–1.82); second quartile, 1.53 (1.17–2.02); and first quartile, 2.12 (1.62–2.77). Follow-up of the patients from the prospective cohort also showed that shorter telomere length levels were associated with mortality from all causes but not with recurrence of stroke.

Conclusions—
Shorter telomere length was associated with ischemic stroke and was a strong predictor of poststroke death.
The Low-Resolution CCSM4
Authors: Shields Christine A. , Bailey David A. , Danabasoglu Gokhan , Jochum Markus , Kiehl Jeffrey T. , Levis Samuel , Park Sungsu 
Published: February 2012

Abstract
The low-resolution version of the Community Climate System Model, version 4 (CCSM4) is a computationally efficient alternative to the intermediate and standard resolution versions of this fully coupled climate system model. It employs an atmospheric horizontal grid of 3.75° × 3.75° and 26 levels in the vertical with a spectral dynamical core (T31) and an oceanic horizontal grid that consists of a nominal 3° resolution with 60 levels in the vertical. This low-resolution version (T31x3) can be used for a variety of applications including long equilibrium simulations, development work, and sensitivity studies. The T31x3 model is validated for modern conditions by comparing to available observations. Significant problems exist for Northern Hemisphere Arctic locales where sea ice extent and thickness are excessive. This is partially due to low heat transport in T31x3, which translates into a globally averaged sea surface temperature (SST) bias of −1.54°C compared to observational estimates from the 1870–99 historical record and a bias of −1.26°C compared to observations from the 1986–2005 historical record. Maximum zonal wind stress magnitude in the Southern Hemisphere matches observational estimates over the ocean, although its placement is incorrectly displaced equatorward. Aspects of climate variability in T31x3 compare to observed variability, especially so for ENSO where the amplitude and period approximate observations. T31x3 surface temperature anomaly trends for the twentieth century also follow observations. An examination of the T31x3 model relative to the intermediate CCSM4 resolution (finite volume dynamical core 1.9° × 2.5°) for preindustrial conditions shows the T31x3 model approximates this solution for climate state and variability metrics examined here.
Flow, Moisture, and Thermodynamic Variability Associated with Gulf of California Surges within the North American Monsoon
Authors: Schiffer Nicole J. , Nesbitt Stephen W. 
Published: February 2012

Abstract
This study uses an improved surge identification method to examine composites of 29 yr of surface observations and reanalysis data alongside 10 yr of satellite precipitation data to reveal connections between flow, thermodynamic parameters, and precipitation, both within and outside of the North American monsoon (NAM) region, associated with Gulf of California (GoC) moisture surges. The North American Regional Reanalysis (NARR), examined using composites of flow during all detected moisture surges at Yuma, Arizona, and so-called wet and dry surges (those producing anomalously high and low precipitation, respectively, over Arizona and New Mexico), show markedly different flow and moisture patterns that ultimately lead to the differing observed precipitation distributions in the region. Wet surges tend to be associated with moister precursor air masses over the southwestern United States, have a larger contribution of enhanced easterly cross–Sierra Madre Occidental (SMO) moisture transport, and tend to result from a transient cyclonic disturbance tracking across northern Mexico. Dry surges tend to be associated with a more southerly tracking disturbance, are associated with less convection over the SMO, and tend to be associated with a drier presurge air mass over Arizona and New Mexico.
Trends in Tropospheric Humidity from 1970 to 2008 over China from a Homogenized Radiosonde Dataset
Authors: Zhao Tianbao , Dai Aiguo , Wang Junhong 
Published: February 2012

Abstract
Radiosonde humidity data provide the longest record for assessing changes in atmospheric water vapor, but they often contain large discontinuities because of changes in instrumentation and observational practices. In this study, the variations and trends in tropospheric humidity (up to 300 hPa) over China are analyzed using a newly homogenized radiosonde dataset. It is shown that the homogenization removes the large shifts in the original records of dewpoint depression (DPD) resulting from sonde changes in recent years in China, and it improves the DPD’s correlation with precipitation and the spatial coherence of the DPD trend from 1970 to 2008. The homogenized DPD data, together with homogenized temperature, are used to compute the precipitable water (PW), whose correlation with the PW from ground-based global positioning system (GPS) measurements at three collocated stations is also improved after the homogenization. During 1970–2008 when the record is relatively complete, tropospheric specific humidity after the homogenization shows upward trends, with surface–300-hPa PW increasing by about 2%–5% decade−1 over most of China and by more than 5% decade−1 over northern China in winter. The PW variations and changes are highly correlated with those in lower–midtropospheric mean temperature (r = 0.83), with a dPW/dT slope of ~7.6% K−1, which is slightly higher than the 7% K−1 implied by Clausius–Clapeyron equation with a constant relative humidity (RH). The radiosonde data show only small variations and weak trends in tropospheric RH over China. An empirical orthogonal function (EOF) analysis of the PW reveals several types of variability over China, with the first EOF (31.4% variance) representing an upward PW trend over most of China (mainly since 1987). The second EOF (12.0% variance) shows a dipole pattern between Southeast and Northwest China and it is associated with a similar dipole pattern in atmospheric vertical motion. This mode exhibits mostly multiyear variations that are significantly correlated with Pacific decadal oscillation (PDO) and ENSO indices.
Association between polymorphisms of the renin–angiotensin system and coronary artery disease in Chinese patients with type 2 diabetes
Authors: Lei He-Ping , Chen Hong-Mei , Zhong Shi-Long , Yao Qing-Zhou , Tan Hong-Hong , Yang Min , Lin Qiu-Xiong , Shan Zhi-Xin , Zheng Zhi-Wei , Zhu Jie-Ning , Zhou Zhi-Ling , Lin Shu-Guang , Yu Xi-Yong 
Published: February 2012

Background: The renin–angiotensin system (RAS) is regarded as one of the most important regulatory systems for cardiovascular homeostasis. In this study, we investigated associations of the five genetic polymorphisms in the RAS and presence of coronary artery disease (CAD) in type 2 diabetes. Methods: Genotyping was performed by polymerase chain reaction–restriction fragment length polymorphism analysis. We used the generalised multifactor dimensionality reduction (GMDR) method to identify gene–gene interactions. Results: The D allele in the ACE gene was significantly more frequent in type 2 diabetic patients with CAD ( p = 0.04). In multivariate logistic regression analysis, the DD genotype was associated with a significantly increased risk of CAD ( p = 0.044). 1675G/A variant in the AT2R gene was found to be associated with CAD in female subjects with type 2 diabetes ( p = 0.025). The three other polymorphisms of the RAS do not seem to influence the development of CAD in type 2 diabetes. No significant gene–gene interaction for any combinations of genotypes was found in the GMDR method. Conclusion: The DD variant of the ACE gene polymorphism is associated with increased risk of developing CAD in Chinese patients with type 2 diabetes. A slight impact of AT2R 1675G/A polymorphism on CAD was found only in female diabetic patients.
Ascertaining instances of neuroleptic malignant syndrome in a secondary mental healthcare electronic medical records database: the SLAM BRC Case Register
Authors: Chang Chin-Kuo , Harrison Simon , Lee William , Taylor David , Stewart Robert 
Published: February 2012

Objectives: Neuroleptic malignant syndrome (NMS) is a rare but potentially fatal complication of antipsychotic treatment. However, there is no single diagnostic test and a variety of overlapping criteria exist. Using a large case register of secondary mental healthcare in Southeast London, we aimed to identify suspected cases and quantify the levels of agreement between six different diagnostic criteria previously published. Methods: Taking advantage of a recently developed case register sourced from full but anonymized electronic medical records (the South London and Maudsley NHS Foundation Trust), we applied text string searching to identify suspected NMS cases for which action had been taken to investigate or treat. Three psychiatrists manually reviewed case records for clinical data to compare diagnostic criteria. Results: Analysis of the case register revealed 183 suspected NMS cases, of which 43 fulfilled at least one set of the six diagnostic criteria. Agreement between criteria was poor (κ = 0.35 for all combined agreement; 95% confidence interval 0.31–0.39) and only one case fulfilled all six diagnostic criteria. However, among cases meeting any diagnostic criteria, pyrexia, extrapyramidal symptoms, altered consciousness, autonomic symptoms, and elevated CK concentrations were significantly more common than in cases not meeting diagnostic criteria ( p < 0.01). On further analyses, the presence of two or more of these features significantly distinguished cases meeting criteria from those that did not ( p < 0.01). Individual symptoms were also reported in suspected cases of NMS that did not fulfil any diagnostic criteria. Conclusions: In a large sample of NMS cases recorded in medical records, relatively poor agreement was found among published diagnostic criteria for NMS. However, core features of NMS were observed significantly more often among cases meeting diagnostic criteria. Individual symptoms were also described in suspected cases that did not meet diagnostic criteria. These findings suggest a continued need for consensus on standard criteria for NMS.
Plasmodium vivax populations revisited: mitochondrial genomes of temperate strains in Asia suggest ancient population expansion
Authors: Miao Miao , Yang Zhaoqing , Patch Harland , Huang Yaming , Escalante Ananias A , Cui Liwang 
Published: February 2012

Abstract

Background

Plasmodium vivax is the most widely distributed human malaria parasite outside of Africa, and its range extends well into the temperate zones. Previous studies provided evidence for vivax population differentiation, but temperate vivax parasites were not well represented in these analyses. Here we address this deficit by using complete mitochondrial (mt) genome sequences to elucidate the broad genetic diversity and population structure of P. vivax from temperate regions in East and Southeast Asia.

Results
From the complete mtDNA sequences of 99 clinical samples collected in China, Myanmar and Korea, a total of 30 different haplotypes were identified from 26 polymorphic sites. Significant differentiation between different East and Southeast Asian parasite populations was observed except for the comparison between populations from Korea and southern China. Haplotype patterns and structure diversity analysis showed coexistence of two different groups in East Asia, which were genetically related to the Southeast Asian population and Myanmar population, respectively. The demographic history of P. vivax, examined using neutrality tests and mismatch distribution analyses, revealed population expansion events across the entire P. vivax range and the Myanmar population. Bayesian skyline analysis further supported the occurrence of ancient P. vivax population expansion.

Conclusions
This study provided further resolution of the population structure and evolution of P. vivax, especially in temperate/warm-temperate endemic areas of Asia. The results revealed divergence of the P. vivax populations in temperate regions of China and Korea from other populations. Multiple analyses confirmed ancient population expansion of this parasite. The extensive genetic diversity of the P. vivax populations is consistent with phenotypic plasticity of the parasites, which has implications for malaria control.
Whole-Genome sequencing and genetic variant analysis of a quarter Horse mare
Authors: Doan Ryan , Cohen Noah D , Sawyer Jason , Ghaffari Noushin , Johnson Charles D , Dindot Scott V 
Published: February 2012

AbstractBackgroundThe catalog of genetic variants in the horse genome originates from a few select animals, the majority originating from the Thoroughbred mare used for the equine genome sequencing project. The purpose of this study was to identify genetic variants, including single nucleotide polymorphisms (SNPs), insertion/deletion polymorphisms (INDELs), and copy number variants (CNVs) in the genome of an individual Quarter Horse mare sequenced by next-generation sequencing.ResultsUsing massively parallel paired-end sequencing, we generated 59.6 Gb of DNA sequence from a Quarter Horse mare resulting in an average of 24.7X sequence coverage. Reads were mapped to approximately 97% of the reference Thoroughbred genome. Unmapped reads werede novoassembled resulting in 19.1 Mb of new genomic sequence in the horse. Using a stringent filtering method, we identified 3.1 million SNPs, 193 thousand INDELs, and 282 CNVs. Genetic variants were annotated to determine their impact on gene structure and function. Additionally, we genotyped this Quarter Horse for mutations of known diseases and for variants associated with particular traits. Functional clustering analysis of genetic variants revealed that most of the genetic variation in the horse's genome was enriched in sensory perception, signal transduction, and immunity and defense pathways.ConclusionsThis is the first sequencing of a horse genome by next-generation sequencing and the first genomic sequence of an individual Quarter Horse mare. We have increased the catalog of genetic variants for use in equine genomics by the addition of novel SNPs, INDELs, and CNVs. The genetic variants described here will be a useful resource for future studies of genetic variation regulating performance traits and diseases in equids.