A copy number variation in human NCF1 and its pseudogenes

<p>Abstract</p> <p>Background</p> <p>Neutrophil cytosolic factor-1 (NCF1) is a component of NADPH oxidase. The NCF1 gene colocalizes with two pseudogenes (NCF1B and NCF1C). These two pseudogenes have a GT deletion in exon 2, resulting in a frameshift and an early stop codon. Here, we report a copy number variation (CNV) of the NCF1 pseudogenes and their alternative spliced expressions.</p> <p>Results</p> <p>We examined three normal populations (86 individuals). We observed the 2:2:2 pattern (NCF1B:NCF1:NCF1C) in only 26 individuals. On average, each African- American has 1.4 ± 0.8 (Mean ± SD) copies of NCF1B and 2.3 ± 0.6 copies of NCF1C; each Caucasian has 1.8 ± 0.7 copies of NCF1B and 1.9 ± 0.4 copies of NCF1C; and each Mexican has 1.6 ± 0.6 copies of NCF1B and 1.0 ± 0.4 copies of NCF1C. Mexicans have significantly less NCF1C copies than African-Americans (<it>p </it>= 6e-15) and Caucasians (<it>p </it>= 3e-11). Mendelian transmission of this CNV was observed in two CEPH pedigrees. Moreover, we cloned two alternative spliced transcripts generated from these two pseudogenes that adopt alternative exon-2 instead of their defective exon 2. The NCF1 pseudogene expression responded robustly to PMA induction during macrophage differentiation. NCF1B decreased from 32.9% to 8.3% in the cDNA pool transcribed from 3 gene copies. NCF1Ψs also displayed distinct expression patterns in different human tissues.</p> <p>Conclusions</p> <p>Our results suggest that these two pseudogenes may adopt an alternative exon-2 in different tissues and in response to external stimuli. The GT deletion is insufficient to define them as functionless pseudogenes; this CNV may have biological relevance.</p

Influence of surface coating on structure and properties of metallic lithium anode for rechargeable Li-O2 battery

Abstract Amorphous lithium phosphorous oxynitride film was coated directly on pre-treated lithium metal as anode of lithium air battery by radio-frequency sputtering technique from a Li 3 PO 4 target. The structure and composition of modified anode was analyzed before and after charge/discharge test in a lithium-air battery, which comprises 0.5 M LiNO 3 /TEGDME as the electrolyte and super P carbon as cathode. Batteries were galvanostatically discharged by an Arbin BT-2000 battery tester between open current voltage and 2.15 V vs. Li + /Li at various current regimes ranging from 0.1–0.4 mA/cm 2 . Compared with fresh lithium, LIPON-coated anode exhibited better electrochemical performance. Good charging efficiency of 90% at a narrower voltage gap with high ionic conductivity of 9.4 × 10 −5 S/cm was achieved through optimizing lithium pre-treated conditions, sputtering N 2 flows and suitable solute for electrolyte

Comparison of cold hardiness in the leaves of various grape cultivars based on photochemical reflectance index

We compared cold hardiness in the leaves of 12 grape cultivars, including two wild species, two Vitis vinifera × V. labrusca, three HPDs (interspecific crosses) and five V. vinifera L. cultivars using PRI-T curves and analysis of variance (ANOVA). The photochemical reflectance index (PRI) of most grape leaves decreased linearly when frozen progressively in darkness, but these patterns varied. The PRI of diploid cultivars and blanc cultivars at the standard temperature (PRI 4°C) remained relatively steady during exposure to successively lower temperatures (0, -2, -4 and -6°C) compared with polyploid and noir cultivars, representing a boundary dividing grape cultivars into frost tolerant and vulnerable. According to this principle, which was tested by ANOVA, the cold hardiness of the four species was ranked (from high to low) as V. vinifera L. &gt; HPD = wild species &gt; V. vinifera × V. labrusca. The cold hardiness of the 12 cultivars was divided into three classes: Resistant: PRI increased markedly compared with the control, RPRI((PRI-PRIcontrol)/PRIcontrol) &gt; 0 (p &lt; 0.05), indicating high freezing tolerance and wide temperature adaption; Tolerant: PRI changed little compared with the control (p &lt; 0.05), RPRI trended to 0, indicating relative stability when exposed to a short period of freezing temperatures; Vulnerable: PRI decreased dramatically compared with the control, RPRI &lt; 0 (p &lt; 0.05), indicating that photosynthesis was inhibited or damaged due to freezing. We also observed seasonal differences in the cold hardiness of the cultivars; grape leaves were more vulnerable to cold in fall than in spring. This study provides a practical method for estimating cold hardiness in grape

Gray Matter Atrophy in Parkinson’s Disease and the Parkinsonian Variant of Multiple System Atrophy: A Combined ROI- and Voxel-Based Morphometric Study

OBJECTIVES: Parkinson’s disease (PD) and the parkinsonian variant of multiple system atrophy (MSA-P) are distinct neurodegenerative disorders that share similar clinical features of parkinsonism. The morphological alterations of these diseases have yet to be understood. The purpose of this study was to evaluate gray matter atrophy in PD and MSA-P using regions of interest (ROI)-based measurements and voxel-based morphometry (VBM). METHODS: We studied 41 patients with PD, 20 patients with MSA-P, and 39 controls matched for age, sex, and handedness using an improved T1-weighted sequence that eased gray matter segmentation. The gray matter volumes were measured using ROI and VBM. RESULTS: ROI volumetric measurements showed significantly reduced bilateral putamen volumes in MSA-P patients compared with those in PD patients and controls (po0.05), and the volumes of the bilateral caudate nucleus were significantly reduced in both MSA-P and PD patients compared with those in the controls (po0.05). VBM analysis revealed multifocal cortical and subcortical atrophy in both MSA-P and PD patients, and the volumes of the cerebellum and temporal lobes were remarkably reduced in MSA-P patients compared with the volumes in PD patients (po0.05). CONCLUSIONS: Both PD and MSA-P are associated with gray matter atrophy, which mainly involves the bilateral putamen, caudate nucleus, cerebellum, and temporal lobes. ROI and VBM can be used to identify these morphological alterations, and VBM is more sensitive and repeatable and less time-consuming, which may have potential diagnostic value

Amide proton transfer-weighted magnetic resonance imaging for the differentiation of parotid gland tumors

PurposeTo assess the usefulness of amide proton transfer-weighted (APTw) imaging in the differentiation of parotid gland tumors.Materials and methodsPatients with parotid gland tumors who underwent APTw imaging were retrospectively enrolled and divided into groups according to pathology. Two radiologists evaluated the APTw image quality independently, and APTw images with quality score ≥3 were enrolled. The maximum and average values of APTw imaging for tumor lesions (APTmax and APTmean) were measured. The differences in APTmax and APTmean were compared between malignant tumors (MTs) and benign tumors (BTs), as well as between MTs and pleomorphic adenomas (PAs) and between MTs and Warthin tumors (WTs). Independent-samples t-test, Kruskal–Wallis H test, and receiver operating characteristic (ROC) curve analyses were used for statistical analysis.ResultsSeventy-three patients were included for image quality evaluation. In this study, 32/73 and 29/73 parotid tumors were scored as 4 and 3, respectively. After excluding lesions with quality score ≤2 (12/73), the APTmean and APTmax of MTs were 4.15% ± 1.33% and 7.43% ± 1.61%, higher than those of BTs 2.74% ± 1.04% and 5.25% ± 1.54%, respectively (p &lt; 0.05). The areas under the ROC curve (AUCs) of the APTmean and APTmax for differentiation between MTs and BTs were 0.819 and 0.821, respectively. MTs indicated significantly higher APTmean and APTmax values than those of PAs (p &lt; 0.05) and WTs (p &lt; 0.05). The AUCs of the APTmean and APTmax for differentiation between MTs and PAs were 0.830 and 0.815 and between MTs and WTs were 0.847 and 0.920, respectively.ConclusionMost APTw images for parotid tumors had acceptable image quality for APTw value evaluation. Both APTmax and APTmean can be used to differentiate MTs from BTs and to differentiate MTs from subtype parotid gland tumors

Profiling Plasma Peptides for the Identification of Potential Ageing Biomarkers in Chinese Han Adults

Advancing age is associated with cardiovascular disease, diabetes mellitus and cancer, and shows significant inter-individual variability. To identify ageing-related biomarkers we performed a proteomic analysis on 1890 Chinese Han individuals, 1136 males and 754 females, aged 18 to 82 years, using weak cation exchange magnetic bead based MALDI-TOF-MS analysis. The study identified 44 peptides which varied in concentration in different age groups. In particular, apolipoprotein A-I (ApoA1) concentration gradually increased between 18 to 50 years of age, the levels of fibrinogen alpha (FGA) decreased over the same age span, while albumin (ALB) was significantly degraded in middle-aged individuals. In addition, the plasma peptide profiles of FGA and four other unidentified proteins were found to be gender-dependent. Plasma proteins such as FGA, ALB and ApoA1 are significantly correlated with age in the Chinese Han population and could be employed as indicative ageingrelated biomarkers

APTw combined with mDixon−Quant imaging to distinguish the differentiation degree of cervical squamous carcinoma

BackgroundTo investigate the value of amide proton transfer weighted (APTw) imaging combined with modified Dixon fat quantification (mDixon-Quant) imaging in determining the degree of differentiation of cervical squamous carcinoma (CSC) against histopathologic.MethodsMagnetic resonance imaging (MRI) data were collected from 52 CSC patients. According to histopathologic results, patients were divided into the poorly differentiated group (37 cases) and the well/moderately differentiated group (15 cases). The APTw value by APTw imaging and the fat fraction (FF) and transverse relaxation rate R2* values by mDixon-Quant were independently measured by two radiologists. Intra-class correlation coefficients (ICCs) were used to test the consistency of APTw, FF, and R2* values measured by the two observers. The Mann-Whitney U test was used to analyze the difference in each parameter between the two groups. Logistic regression analysis was used to assess the association between the degree of differentiation on histopathology and imaging parameters by APTw and mDixon Quant. The ROC curve was used to evaluate the diagnostic efficacy of various parameters and their combination in distinguishing the degree of CSC differentiation on histopathology. The DeLong test was used to access the differences among the area under the ROC curves (AUCs). The Pearson correlation coefficient was used to evaluate the correlation between APTw and mDixon-Quant imaging parameters.ResultsThe APTw means were 2.95 ± 0.78% and 2.05 (1.85, 2.65)% in the poorly and well/moderately differentiated groups, respectively. The R2* values were 26.62 (21.99, 33.31)/s and 22.93 ± 6.09/s in the poorly and well/moderately differentiated groups, respectively (P &lt; 0.05). The AUCs of APTw, R2*, and their combination were 0.762, 0.686, and 0.843, respectively. The Delong test suggested statistical significance between R2* and the combination of APTw and R2*. R2* values showed a significant correlation with APTw values in the poorly differentiated group.ConclusionsAPTw combined with mDixon-Quant can be used to efficiently distinguish the differention degrees of CSC diagnosed on histopathology

Microstructure abnormalities of the diffusion quantities in children with attention-deficit/hyperactivity disorder: an AFQ and TBSS study

ObjectiveTo explore the specific alterations of white matter microstructure in children with attention-deficit/hyperactivity disorder (ADHD) by automated fiber quantification (AFQ) and tract-based spatial statistics (TBSS), and to analyze the correlation between white matter abnormality and impairment of executive function.MethodsIn this prospective study, a total of twenty-seven patients diagnosed with ADHD (20 males, 7 females; mean age of 8.89 ± 1.67 years) and twenty-two healthy control (HC) individuals (11 males, 11 females, mean age of 9.82 ± 2.13 years) were included. All participants were scanned with diffusion kurtosis imaging (DKI) and assessed for executive functions. AFQ and TBSS analysis methods were used to investigate the white matter fiber impairment of ADHD patients, respectively. Axial diffusivity (AD), radial diffusivity (RD), mean diffusivity (MD) and fractional anisotropy (FA) of 17 fiber properties were calculated using the AFQ. The mean kurtosis (MK), axial kurtosis (AK), radial kurtosis (RK), mean diffusivity (MDDKI), axial diffusivity (ADDKI), radial diffusivity (RDDKI) and fractional anisotropy (FADKI) of DKI and AD, RD, MD, and FA of diffusion tensor imaging (DTI) assessed the integrity of the white matter based on TBSS. Partial correlation analyses were conducted to evaluate the correlation between white matter abnormalities and clinical test scores in ADHD while taking age, gender, and education years into account. The analyses were all family-wise error rate (FWE) corrected.ResultsADHD patients performed worse on the Behavior Rating Inventory of Executive Function (BRIEF) test (p &lt; 0.05). Minor variances existed in gender and age between ADHD and HC, but these variances did not yield statistically significant distinctions. There were no significant differences in TBSS for DKI and DTI parameters (p &gt; 0.05, TFCE-corrected). Compared to HC volunteers, the mean AD value of right cingulum bundle (CB_R) fiber tract showed a significantly higher level in ADHD patients following the correction of FWE. As a result of the point-wise comparison between groups, significant alterations (FWE correction, p &lt; 0.05) were mainly located in AD (nodes 36–38, nodes 83–97) and MD (nodes 92–95) of CB_R. There was no significant correlation between white matter diffusion parameters and clinical test scores in ADHD while taking age, gender, and education years into account.ConclusionThe AFQ method can detect ADHD white matter abnormalities in a specific location with greater sensitivity, and the CB_R played a critical role. Our findings may be helpful in further studying the relationship between focal white matter abnormalities and ADHD

Early prediction of pathological response to neoadjuvant chemotherapy of breast tumors: a comparative study using amide proton transfer-weighted, diffusion weighted and dynamic contrast enhanced MRI

ObjectiveTo examine amide proton transfer-weighted (APTw) combined with diffusion weighed (DWI) and dynamic contrast enhanced (DCE) MRI for early prediction of pathological response to neoadjuvant chemotherapy in invasive breast cancer.MaterialsIn this prospective study, 50 female breast cancer patients (49.58 ± 10.62 years old) administered neoadjuvant chemotherapy (NAC) were enrolled with MRI carried out both before NAC (T0) and at the end of the second cycle of NAC (T1). The patients were divided into 2 groups based on tumor response according to the Miller-Payne Grading (MPG) system. Group 1 included patients with a greater degree of decrease in major histologic responder (MHR, Miller-Payne G4-5), while group 2 included non-MHR cases (Miller-Payne G1-3). Traditional imaging protocols (T1 weighted, T2 weighted, diffusion weighted, and DCE-MRI) and APTw imaging were scanned for each subject before and after treatment. APTw value (APTw0 and APTw1), Dmax (maximum diameter, Dmax0 and Dmax1), V (3D tumor volume, V0 and V1), and ADC (apparent diffusion coefficient, ADC0 and ADC1) before and after treatment, as well as changes between the two times points (ΔAPT, ΔDmax, ΔV, ΔADC) for breast tumors were compared between the two groups.ResultsAPT0 and APT1 values significantly differed between the two groups (p = 0.034 and 0.01). ΔAPTw values were significantly lower in non-MHR tumors compared with MHR tumors (p = 0.015). ΔDmax values were significantly higher in MHR tumors compared with non-MHR tumors (p = 0.005). ADC0 and ADC1 values were significantly higher in MHR tumors than in non-MHR tumors (p = 0.038 and 0.035). AUC (Dmax+DWI + APTw) = AUC (Dmax+APTw) &gt; AUC (APTw) &gt; AUC (Dmax+DWI) &gt; AUC (Dmax).ConclusionAPTw imaging along with change of tumor size showed a significant potential in early prediction of MHR for NAC treatment in breast cancer, which might allow timely regimen refinement before definitive surgical treatment