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1.
BMC Nephrol ; 25(1): 161, 2024 May 10.
Article in English | MEDLINE | ID: mdl-38730296

ABSTRACT

BACKGROUND: Previous observational studies have reported that systemic inflammatory regulators are related to the development of chronic kidney disease (CKD); however, whether these associations are causal remains unclear. The current study aimed to investigate the potential causal relationships between systemic inflammatory regulators and CKD and kidney function. METHOD: We performed bidirectional two-sample Mendelian randomization (MR) analyses to infer the underlying causal associations between 41 systemic inflammatory regulators and CKD and kidney function. The inverse-variance weighting (IVW) test was used as the primary analysis method. In addition, sensitivity analyses were executed via the Mendelian randomization pleiotropy residual sum and outlier (MR-PRESSO) test and the weighted median test. RESULTS: The findings revealed 12 suggestive associations between 11 genetically predicted systemic inflammatory regulators and CKD or kidney function in the forward analyses, including 4 for CKD, 3 for blood urea nitrogen (BUN), 4 for eGFRcrea and 1 for eGFRcys. In the other direction, we identified 6 significant causal associations, including CKD with granulocyte-colony stimulating factor (GCSF) (IVW ß = 0.145; 95% CI, 0.042 to 0.248; P = 0.006), CKD with stem cell factor (SCF) (IVW ß = 0.228; 95% CI, 0.133 to 0.323; P = 2.40 × 10- 6), eGFRcrea with SCF (IVW ß =-2.90; 95% CI, -3.934 to -1.867; P = 3.76 × 10- 8), eGFRcys with GCSF (IVW ß =-1.382; 95% CI, -2.404 to -0.361; P = 0.008), eGFRcys with interferon gamma (IFNg) (IVW ß =-1.339; 95% CI, -2.313 to -0.366; P = 0.007) and eGFRcys with vascular endothelial growth factor (VEGF) (IVW ß =-1.709; 95% CI, -2.720 to -0.699; P = 9.13 × 10- 4). CONCLUSIONS: Our findings support causal links between systemic inflammatory regulators and CKD or kidney function both in the forward and reverse MR analyses.


Subject(s)
Mendelian Randomization Analysis , Renal Insufficiency, Chronic , Humans , Renal Insufficiency, Chronic/genetics , Renal Insufficiency, Chronic/blood , Glomerular Filtration Rate , Inflammation/genetics , Granulocyte Colony-Stimulating Factor/blood , Stem Cell Factor/genetics , Stem Cell Factor/blood , Kidney/metabolism , Kidney/physiopathology , Blood Urea Nitrogen
2.
Quant Imaging Med Surg ; 14(3): 2255-2266, 2024 Mar 15.
Article in English | MEDLINE | ID: mdl-38545063

ABSTRACT

Background: Intracranial extraventricular ependymoma (IEE) and glioblastoma (GBM) may have similar imaging findings but different prognosis. This study aimed to develop and validate a nomogram based on magnetic resonance imaging (MRI) Visually AcceSAble Rembrandt Images (VASARI) features for preoperatively differentiating IEE from GBM. Methods: The clinical data and the MRI-VASARI features of patients with confirmed IEE (n=114) and confirmed GBM (n=258) in a multicenter cohort were retrospectively analyzed. Predictive models for differentiating IEE from GBM were built using a multivariate logistic regression method. A nomogram was generated and the performance of the nomogram was assessed with respect to its calibration, discrimination, and clinical usefulness. Results: The predictors identified in this study consisted of six VASARI features and four clinical features. Compared with the individual models, the combined model incorporating clinical and VASARI features had the highest area under the curve (AUC) value [training set: 0.99, 95% confidence interval (CI): 0.98-1.00; validation set: 0.97, 95% CI: 0.94-1.00] in comparison to the clinical model. The nomogram was well calibrated with significant clinical benefit according to the calibration curve and decision curve analyses. Conclusions: The nomogram combining clinical and MRI-VASARI characteristics was robust for differentiating IEE from GBM preoperatively and may potentially assist in diagnosis and treatment of brain tumors.

3.
Chemosphere ; 349: 140958, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38104735

ABSTRACT

A novel 3D bimetallic metal-organic framework (MOF(Fe-Co)) was successfully prepared and its performance on sulfamethoxazole (SMX) removal in advanced oxidation process (AOP) based on peracetic acid (PAA) was evaluated. MOF(Fe-Co) exhibited an efficient catalytic performance on PAA activation for SMX degradation under neutral condition. Increasing PAA concentration could enhance SMX removal, while the variation of MOF(Fe-Co) dosage from 0.05 to 0.2 g/L had an inappreciable effect on SMX removal. According to the results of inductively coupled plasma mass spectrometry analyses and X-ray photoelectron spectroscopy, catalytic reactions mainly occurred on the surface of MOF(Fe-Co). Organic radicals (i.e., CH3C(O)OO• and CH3C(O)O•) were demonstrated to be the predominant reactive radicals for SMX degradation by MOF(Fe-Co)/PAA through radical quenching experiments. The presence of Cl- could enhance the degradation of SMX by MOF(Fe-Co)/PAA, while HCO3- and natural organic matter inhibited SMX degradation severely. Five identified degradation products were detected in this system and four possible SMX transformation pathways were proposed, including amino oxidation, S-N bond cleavage, coupling reaction and hydroxylation.


Subject(s)
Metal-Organic Frameworks , Water Pollutants, Chemical , Peracetic Acid , Sulfamethoxazole/chemistry , Water Pollutants, Chemical/analysis , Oxidation-Reduction , Hydrogen Peroxide/chemistry
4.
Cancer Imaging ; 23(1): 80, 2023 Sep 01.
Article in English | MEDLINE | ID: mdl-37658446

ABSTRACT

BACKGROUND: The three-dimensional chemical exchange saturation transfer (3D CEST) technique is a novel and promising magnetic resonance sequence; however, its application in nasopharyngeal carcinoma (NPC) lacks sufficient evaluation. This study aimed to assess the feasibility of the 3D CEST technique in predicting the short-term treatment outcomes for chemoradiotherapy (CRT) in NPC patients. METHODS: Forty NPC patients and fourteen healthy volunteers were enrolled and underwent the pre-treatment 3D CEST magnetic resonance imaging and diffusion-weighted imaging (DWI). The reliability of 3D CEST was assessed in healthy volunteers by calculating the intra- and inter-observer correlation coefficient (ICC) for amide proton transfer weighted-signal intensity (APTw-SI) and magnetization transfer ratio (MTR) values. NPC patients were divided into residual and non-residual groups based on short-term treatment outcomes after CRT. Whole-tumor regions of interest (ROIs) were manually drawn to measure APTw-SI, MTR and apparent diffusion coefficient (ADC) values. Multivariate analysis and the receiver operating characteristic curve (ROC) were used to evaluate the prediction performance of clinical characteristics, APTw-SI, MTR, ADC values, and combined models in predicting short-term treatment outcomes in NPC patients. RESULTS: For the healthy volunteer group, all APTw-SI and MTR values exhibited good to excellent intra- and inter-observer agreements (0.736-0.910, 0.895-0.981, all P > 0.05). For NPC patients, MTR values showed a significant difference between the non-residual and residual groups (31.24 ± 5.21% vs. 34.74 ± 1.54%, P = 0.003) while no significant differences were observed for APTw-SI and ADC values (P > 0.05). Moreover, the diagnostic power of MTR value was superior to APTw-SI (AUC: 0.818 vs. 0.521, P = 0.017) and comparable to ADC values (AUC: 0.818 vs. 0.649, P > 0.05) in predicting short-term treatment outcomes for NPC patients. The prediction performance did not improve even when combining MTR values with APTw-SI and/or ADC values (P > 0.05). CONCLUSIONS: The pre-treatment MTR value acquired through 3D CEST demonstrated superior predictive performance for short-term treatment outcomes compared to APTw-SI and ADC values in NPC patients after CRT.


Subject(s)
Nasopharyngeal Neoplasms , Protons , Humans , Feasibility Studies , Nasopharyngeal Carcinoma/diagnostic imaging , Nasopharyngeal Carcinoma/therapy , Reproducibility of Results , Magnetic Resonance Imaging , Chemoradiotherapy , Amides , Nasopharyngeal Neoplasms/diagnostic imaging , Nasopharyngeal Neoplasms/therapy
5.
Front Neurol ; 14: 1164600, 2023.
Article in English | MEDLINE | ID: mdl-37483438

ABSTRACT

Introduction: Previous studies have revealed structural, functional, and metabolic changes in brain regions inside the cortico-striatal-thalamo-cortical (CSTC) loop in patients with paroxysmal kinesigenic dyskinesia (PKD), whereas no quantitative susceptibility mapping (QSM)-related studies have explored brain iron deposition in these areas. Methods: A total of eight familial PKD patients and 10 of their healthy family members (normal controls) were recruited and underwent QSM on a 3T magnetic resonance imaging system. Magnetic susceptibility maps were reconstructed using a multi-scale dipole inversion algorithm. Thereafter, we specifically analyzed changes in local mean susceptibility values in cortical regions and subcortical nuclei inside the motor CSTC loop. Results: Compared with normal controls, PKD patients had altered brain iron levels. In the cortical gray matter area involved with the motor CSTC loop, susceptibility values were generally elevated, especially in the bilateral M1 and PMv regions. In the subcortical nuclei regions involved with the motor CSTC loop, susceptibility values were generally lower, especially in the bilateral substantia nigra regions. Conclusion: Our results provide new evidence for the neuropathogenesis of PKD and suggest that an imbalance in brain iron levels may play a role in PKD.

7.
Sci Rep ; 13(1): 3216, 2023 02 24.
Article in English | MEDLINE | ID: mdl-36828845

ABSTRACT

Non-invasive prediction for KIT/PDGFRA status in GIST is a challenging problem. This study aims to evaluate whether CT based sarcopenia could differentiate KIT/PDGFRA wild-type gastrointestinal stromal tumor (wt-GIST) from the mutant-type GIST (mu-GIST), and to evaluate genetic features of GIST. A total of 174 patients with GIST (wt-GIST = 52) were retrospectively identified between January 2011 to October 2019. A sarcopenia nomogram was constructed by multivariate logistic regression. The performance of the nomogram was evaluated by discrimination, calibration curve, and decision curve. Genomic data was obtained from our own specimens and also from the open databases cBioPortal. Data was analyzed by R version 3.6.1 and clusterProfiler ( http://cbioportal.org/msk-impact ). There were significantly higher incidence (75.0% vs. 48.4%) and more severe sarcopenia in patients with wt-GIST than in patients with mu-GIST. Multivariate logistic regression analysis showed that sarcopenia score (fitted based on age, gender and skeletal muscle index), and muscle fat index were independent predictors for higher risk of wt-GIST (P < 0.05 for both the training and validation cohorts). Our sarcopenia nomogram achieved a promising efficiency with an AUC of 0.879 for the training cohort, and 0.9099 for the validation cohort with a satisfying consistency in the calibration curve. Favorable clinical usefulness was observed using decision curve analysis. The additional gene sequencing analysis based on both our data and the external data demonstrated aberrant signal pathways being closely associated with sarcopenia in the wt-GIST. Our study supported the use of CT-based assessment of sarcopenia in differentiating the wt-GIST from the mu-GIST preoperatively.


Subject(s)
Gastrointestinal Stromal Tumors , Sarcopenia , Humans , Gastrointestinal Stromal Tumors/genetics , Proto-Oncogene Proteins c-kit/metabolism , Retrospective Studies , Receptor, Platelet-Derived Growth Factor alpha/metabolism , Receptor Protein-Tyrosine Kinases , Tomography, X-Ray Computed
8.
Cereb Cortex ; 33(5): 2174-2182, 2023 02 20.
Article in English | MEDLINE | ID: mdl-35567796

ABSTRACT

Gray matter volume and thickness reductions have been reported in patients with spinocerebellar ataxia type 3 (SCA3), whereas cortical gyrification alterations of this disease remain largely unexplored. Using local gyrification index (LGI) and fractional anisotropy (FA) from structural and diffusion MRI data, this study investigated the cortical gyrification alterations as well as their relationship with white matter microstructural abnormalities in patients with SCA3 (n = 61) compared with healthy controls (n = 69). We found widespread reductions in cortical LGI and white matter FA in patients with SCA3 and that changes in these 2 features were also coupled. In the patient group, the LGI of the left middle frontal gyrus, bilateral insula, and superior temporal gyrus was negatively correlated with the severity of depressive symptoms, and the FA of a cluster in the left cerebellum was negatively correlated with the Scale for the Assessment and Rating of Ataxia scores. Our findings suggest that the gyrification abnormalities observed in this study may account for the clinical heterogeneity in SCA3 and are likely to be mediated by the underlying white matter microstructural abnormalities of this disease.


Subject(s)
Machado-Joseph Disease , White Matter , Humans , Magnetic Resonance Imaging , Diffusion Magnetic Resonance Imaging , Cerebellum , Gray Matter
9.
Plant Biotechnol J ; 21(1): 46-62, 2023 01.
Article in English | MEDLINE | ID: mdl-36054248

ABSTRACT

Divergent selection of populations in contrasting environments leads to functional genomic divergence. However, the genomic architecture underlying heterogeneous genomic differentiation remains poorly understood. Here, we de novo assembled two high-quality wild barley (Hordeum spontaneum K. Koch) genomes and examined genomic differentiation and gene expression patterns under abiotic stress in two populations. These two populations had a shared ancestry and originated in close geographic proximity but experienced different selective pressures due to their contrasting micro-environments. We identified structural variants that may have played significant roles in affecting genes potentially associated with well-differentiated phenotypes such as flowering time and drought response between two wild barley genomes. Among them, a 29-bp insertion into the promoter region formed a cis-regulatory element in the HvWRKY45 gene, which may contribute to enhanced tolerance to drought. A single SNP mutation in the promoter region may influence HvCO5 expression and be putatively linked to local flowering time adaptation. We also revealed significant genomic differentiation between the two populations with ongoing gene flow. Our results indicate that SNPs and small SVs link to genetic differentiation at the gene level through local adaptation and are maintained through divergent selection. In contrast, large chromosome inversions may have shaped the heterogeneous pattern of genomic differentiation along the chromosomes by suppressing chromosome recombination and gene flow. Our research offers novel insights into the genomic basis underlying local adaptation and provides valuable resources for the genetic improvement of cultivated barley.


Subject(s)
Hordeum , Hordeum/genetics , Genomics , Adaptation, Physiological/genetics , Genes, Plant
10.
Plant Physiol Biochem ; 192: 101-109, 2022 Dec 01.
Article in English | MEDLINE | ID: mdl-36219993

ABSTRACT

Boron (B) is an essential micronutrient for higher plants, and its deficiency causes a change in the citrate concentration in leaves of young navel orange plants. Although citrate has been implicated in the regulation of gene expression for many transcripts, it is unclear whether citrate can affect metabolic profiling under B deficiency and if so, how many metabolites are affected. In this study, GC-TOF-MS-based untargeted metabolite profiling was used to identify the physiological effects of exogenous citrate on recovery of metabolites in B-deficient orange plants. There were 31 increased and 24 decreased metabolites in the boron-deficient (BD) group leaves relative to those of the boron-adequate (BA) group. Boron deficiency-induced changes in many metabolites were restored to the level of BA (control) group leaves or showed a recovery tendency at 1 week after citrate supply (foliar application of citrate, BDFC), including 11 organic acids, 9 sugars and polyols, 10 amino acids, and 4 other compounds. To compare with the metabolic recovery effects of exogenous citrate on B deficiency, exogenous application of B (borate) was also performed under same conditions (BDFB), and similar effects on the regulation of metabolic homeostasis under B deficiency were observed. Both the results of principal component analysis (PCA) and hierarchical cluster analysis (HCA) showed that BA, BDFC, and BDFB were relatively similar and clustered close to each other. There are different responsive and regulatory mechanisms to the additions of exogenous citrate in navel orange leaves under B adequate and deficient conditions. Based on these results, we suggest that citrate is an important component of the B deficiency stress response, and exogenous application of citrate generally restores the leaf metabolic profiles of navel orange plants under boron deficiency, which might play a positive role in this stress tolerance.

11.
Chemosphere ; 306: 135506, 2022 Nov.
Article in English | MEDLINE | ID: mdl-35777545

ABSTRACT

In this study, a novel peracetic acid (PAA)-based advanced oxidation process using Mn3O4 as a catalyst was proposed. A thorough sulfamethoxazole (SMX) removal could be achieved within 12 min in Mn3O4/PAA system at neutral pH. The characterization results of fresh and used Mn3O4 suggested that ≡Mn(II), ≡Mn(III) and ≡Mn(IV) on Mn3O4 were the Mn species for PAA activation, constituting the redox cycles of ≡Mn(II)/≡Mn(III) and ≡Mn(III)/≡Mn(IV) simultaneously. Organic radicals (i.e., CH3C(O)O• and CH3C(O)OO•) were verified to be the dominant reactive species responsible for SMX degradation in Mn3O4/PAA system by radical scavenging experiments. The neutral condition was the most favorable pH for SMX removal in Mn3O4/PAA system and the increase of PAA or Mn3O4 dosage could enhance SMX degradation. Presence of HCO3- and natural organic matter (NOM) could inhibit SMX degradation, while Cl-, NO3- and SO42- had a negligible effect on SMX removal. The thorough SMX removal in successive experiments and characterization results of used Mn3O4 suggested the good reusability and stability of Mn3O4 for PAA activation. Based on six detected transformation products of SMX, hydroxylation, nitration, bond cleavage and coupling reaction were proposed to be its degradation pathways in Mn3O4/PAA system.


Subject(s)
Sulfamethoxazole , Water Pollutants, Chemical , Catalysis , Hydrogen Peroxide , Oxidation-Reduction , Peracetic Acid , Sulfamethoxazole/chemistry , Water Pollutants, Chemical/chemistry
12.
Sci Rep ; 12(1): 12389, 2022 07 20.
Article in English | MEDLINE | ID: mdl-35859112

ABSTRACT

We compared the clinical utility of single-shot echo-planar imaging (SS-EPI) using different breathing schemes, readout-segmented EPI and zoomit EPI in the repeatability of apparent diffusion coefficient (ADC) measurements, cortico-medullary contrast to noise ratio (c-mCNR) and image quality. In this institutional review board-approved prospective study, some common clinically applicable diffusion-weighted imaging (b = 50, 400, 800 s/mm2) of kidney on 3.0 T MRI were performed on 22 volunteers using SS-EPI with breath-hold diffusion-weighted imaging (BH-DWI), free-breathing (FB-DWI), navigator-triggered (NT-DWI) and respiratory-triggered (RT-DWI), readout-segmented DWI (RS-DWI), and Zoomit DWI (Z-DWI). ADC and c-mCNR were measured in 12 anatomic locations (the upper, middle, and lower pole of the renal cortex and medulla), and image quality was assessed on these DWI sequences. A DWI with the optimal clinical utility was decided by systematically assessing the ADC repeatability, c-mCNR and image quality among the DWIs. For ADC measurements, Z-DWI had an excellent intra-observer agreement (intra-class correlation coefficients (ICCs): 0.876-0.944) and good inter-observer agreement (inter-class ICCs: 0.798-0.856) in six DWI sequences. Z-DWI had the highest ADC repeatability in most of the 12 anatomic locations of the kidneys (mean ADC absolute difference: 0.070-0.111 × 10-3 mm2/s, limit of agreement: 0.031-0.056 × 10-3 mm2/s). In all DWIs, Z-DWI yielded a slightly higher c-mCNR than other DWIs in most representative locations (P > 0.05), which was significantly higher than BH-DWI and FB-DWI in the middle pole of both kidneys and the upper pole of the left kidney (P < 0.05). In addition, Z-DWI yielded image quality that was similar to RT-DWI and NT-DWI (P > 0.05) and superior to BH-DWI, FB-DWI and RS-DWI (P < 0.05). Our results suggest that Z-DWI provides the highest ADC reproducibility, better c-mCNR and good image quality on 3.0 T MRI, making it the recommended sequence for clinical DWI of the kidney.


Subject(s)
Diffusion Magnetic Resonance Imaging , Echo-Planar Imaging , Diffusion Magnetic Resonance Imaging/methods , Echo-Planar Imaging/methods , Humans , Kidney/diagnostic imaging , Prospective Studies , Reproducibility of Results
13.
RSC Adv ; 12(22): 13810-13819, 2022 May 05.
Article in English | MEDLINE | ID: mdl-35541433

ABSTRACT

In this study, cobalt doped graphitic carbon nitride (Co-CN) was prepared and applied as a catalyst to activate peracetic acid (PAA) for sulfamethoxazole (SMX) degradation at neutral pH. PAA could be efficiently activated by Co-CN resulting in the efficient degradation of SMX. Characterization results of fresh and used Co-CN suggested that cobalt was successfully doped in graphitic carbon nitride (g-C3N4) through chemical bonding (Co-N bond) and the surface cobalt species in Co-CN (i.e., [triple bond, length as m-dash]Co(ii) and [triple bond, length as m-dash]Co(iii)) were the main activators for PAA. Organic radicals (i.e., CH3C(O)O˙ and CH3C(O)OO˙) were proved to be the dominant reactive species for SMX removal in the Co-CN/PAA system by radical scavenging experiments. The increase of cobalt doping content, PAA dosage or Co-CN dosage could accelerate SMX degradation and the neutral condition was highly favorable to SMX removal in Co-CN/PAA system. Co-CN exhibited a good stability and reusability for PAA activation in degrading SMX. Four possible degradation pathways of SMX (i.e., hydroxylation, nitration, bond cleavage and coupling reaction) were proposed in the Co-CN/PAA system according to eight identified transformation products.

14.
Eur Radiol ; 32(7): 4919-4930, 2022 Jul.
Article in English | MEDLINE | ID: mdl-35124718

ABSTRACT

OBJECTIVES: To identify specific imaging and clinicopathological features of a rare potentially malignant epithelioid variant of renal lipid-poor angiomyolipoma (E-lpAML). METHODS: A total of 20 patients with E-lpAML and 43 patients with other lpAML were retrospectively included. Multiphase computed tomography (CT) imaging features and clinicopathological findings were recorded. Independent predictors for E-lpAML were identified using multivariate logistic regression and were used to construct a diagnostic score for differentiation of E-lpAML from other lpAML. RESULTS: The E-lpAML group consisted of 6 men and 14 women (age median ± SD: 39.45 ± 15.70, range: 16.0-68.0 years). E-lpAML tended to appear as hyperdense mass lesions located at the renal sinus (n = 8, 40%) or at the renal cortex (n = 12, 60%), with a "fast-in and slow-out" enhancement pattern (n = 20, 100%), cystic degeneration (n = 18, 90%), "eyeball" sign (n = 11, 55%), and tumor neo-vasculature (n = 15, 75%) on CT. Multivariate logistic regression analysis showed that the independent predictors for diagnosing E-lpAML were cystic degeneration on CT imaging and CT value of the tumor in corticomedullary phase of enhancement. A predictive model was built with the two predictors, achieving an area under the curve (AUC) of 93.5% (95% confidence interval (95%CI): 84.3-98.2%) with a sensitivity of 95.0% (95%CI: 75.1-99.9%) and a specificity of 83.72% (95%CI: 69.3-93.2%). CONCLUSION: We identified specific CT imaging features and predictors that could contribute to the correct diagnosis of E-lpAML. Our findings should be helpful for clinical management of E-lpAML which could potentially be malignant and may require nephron-sparing surgery while other lpAML tumors which are benign require no intervention. KEY POINTS: • It is important to differentiate renal epithelioid lipid-poor angiomyolipoma (E-lpAML) from other lpAML because of differences in clinical management. • E-lpAML tumors tend to be large hyperdense tumors in the renal sinus with cystic degeneration and "fast-in and slow-out" pattern of enhancement. • Our CT imaging-based predictive model was robust in its performance for predicting E-lpAML from other lpAML tumors.


Subject(s)
Angiomyolipoma , Carcinoma, Renal Cell , Kidney Neoplasms , Adolescent , Adult , Aged , Angiomyolipoma/diagnostic imaging , Angiomyolipoma/pathology , Carcinoma, Renal Cell/pathology , Diagnosis, Differential , Female , Humans , Kidney Neoplasms/pathology , Lipids , Male , Middle Aged , Retrospective Studies , Tomography, X-Ray Computed/methods , Young Adult
15.
Cerebellum ; 21(3): 358-367, 2022 Jun.
Article in English | MEDLINE | ID: mdl-34264505

ABSTRACT

Spinocerebellar ataxias (SCAs) are a large group of hereditary neurodegenerative diseases characterized by ataxia and dysarthria. Due to high clinical and genetic heterogeneity, many SCA families are undiagnosed. Herein, using linkage analysis, WES, and RP-PCR, we identified the largest SCA36 pedigree in Asia. This pedigree showed some distinct clinical characteristics. Cognitive impairment and gaze palsy are common and severe in SCA36 patients, especially long-course patients. Although no patients complained of hearing loss, most of them presented with hearing impairment in objective auxiliary examination. Voxel-based morphometry (VBM) demonstrated a reduction of volumes in cerebellum, brainstem, and thalamus (corrected P < 0.05). Reduced volumes in cerebellum were also found in presymptomatic carriers. Resting-state functional MRI (R-fMRI) found reduced ReHo values in left cerebellar posterior lobule (corrected P < 0.05). Diffusion tensor imaging (DTI) demonstrated a reduction of FA values in cerebellum, midbrain, superior and inferior cerebellar peduncle (corrected P < 0.05). MRS found reduced NAA/Cr values in cerebellar vermis and hemisphere (corrected P < 0.05). Our findings could provide new insights into management of SCA36 patients. Detailed auxiliary examination are recommended to assess hearing or peripheral nerve impairment, and we should pay more attention to eye movement and cognitive changes in patients. Furthermore, for the first time, our multimodel neuroimaging evaluation generate a full perspective of brain function and structure in SCA36 patients.


Subject(s)
Diffusion Tensor Imaging , Spinocerebellar Ataxias , Cerebellum , Humans , Magnetic Resonance Imaging , Pedigree , Spinocerebellar Ataxias/diagnostic imaging , Spinocerebellar Ataxias/genetics
16.
Front Plant Sci ; 12: 759968, 2021.
Article in English | MEDLINE | ID: mdl-34925410

ABSTRACT

To elucidate the mechanism underlying special characteristic differences between a spontaneous seedling mutant 'Huapi' kumquat (HP) and its wild-type 'Rongan' kumquat (RA), the fruit quality, metabolic profiles, and gene expressions of the peel and flesh were comprehensively analyzed. Compared with RA, HP fruit has distinctive phenotypes such as glossy peel, light color, and few amounts of oil glands. Interestingly, HP also accumulated higher flavonoid (approximately 4.1-fold changes) than RA. Based on metabolomics analysis, we identified 201 differential compounds, including 65 flavonoids and 37 lipids. Most of the differential flavonoids were glycosylated by hexoside and accumulated higher contents in the peel but lower in the flesh of HP than those of RA fruit. For differential lipids, most of them belonged to lysophosphatidycholines (LysoPCs) and lysophosphatidylethanolamines (LysoPEs) and exhibited low abundance in both peel and flesh of HP fruit. In addition, structural genes associated with the flavonoid and lipid pathways were differentially regulated between the two kumquat varieties. Gene expression analysis also revealed the significant roles of UDP-glycosyltransferase (UGT) and phospholipase genes in flavonoid and glycerophospholipid metabolisms, respectively. These findings provide valuable information for interpreting the mutation mechanism of HP kumquat.

17.
Zhong Nan Da Xue Xue Bao Yi Xue Ban ; 46(9): 1003-1009, 2021.
Article in English, Chinese | MEDLINE | ID: mdl-34707011

ABSTRACT

OBJECTIVES: T1 mapping can noninvasively quantify the native longitudinal relaxation time (T1 value) of myocardium and provide more information on myocardial fibrosis based on late gadolinium enhancement (LGE). However, the traditional approach of measuring T1 value limits the popularization and application of this technology in clinic because the whole short axis (SAX) of myocardium is required in the regions of interest (ROI). This study aims to evaluate the diagnostic ability of native T1 value obtained by comparison between the midventricular septum (ConSept) and SAX approaches in diffuse myocardial lesions. METHODS: Retrospective analysis was performed on 38 patients with non-ischemic dilated cardiomyopathy (NIDCM) and 27 healthy controls who underwent T1 mapping and gadolinium delayed enhancement (LGE) scanning on a 3.0T cardiac magnetic resonance (CMR) in Xiangya Hospital of Central South University. Patients with NIDCM were divided into a LGE positive group and a LGE negative group according to the presence or absence of LGE. The native T1 value was measured by the ROI placed in the ConSept and SAX, respectively. The ability to distinguish the impaired myocardium from the healthy myocardium and the native T1 values of the myocardium measured by the 2 approaches were compared between the NIDCM group and the control group. RESULTS: The native T1 values of NIDCM group using ConSept or SAX approach were significantly higher than those in the control group (all P<0.001), and the native T1 values in the LGE positive group were greater than those in the LGE negative group (all P<0.05). There was no significant difference in T1 value of middle, basal, and apical layer between the ConSept approach and SAX approach (all P>0.05). ConSept and SAX approaches had a good consistency [concordance correlation coefficient (CCC)=0.954]. CONCLUSIONS: Comparing to the SAX approach, ConSept approach is a simple and equivalent method to measure the native T1 value of myocardium and is suitable for clinical application.


Subject(s)
Cardiomyopathy, Dilated , Cardiomyopathy, Dilated/diagnostic imaging , Contrast Media , Gadolinium , Humans , Magnetic Resonance Imaging, Cine , Myocardium , Predictive Value of Tests , Retrospective Studies
18.
Front Genet ; 12: 695791, 2021.
Article in English | MEDLINE | ID: mdl-34421999

ABSTRACT

Selection for resistance against gray leaf spot (GLS) is a major objective in the lupin breeding programs. A segregation ratio of 1:1 (resistant:susceptible) in F8 recombinant inbred lines (RIL8) derived from a cross between a breeding line 83A:476 (resistant to GLS) and a wild accession P27255 (susceptible to GLS) indicated that GLS was controlled by a single major gene. To develop molecular markers linked to GLS, in the beginning, only 11 resistant lines and six susceptible lines from the 83A:476 and P27255 population were genotyped with MFLP markers, and three MFLP markers were identified to be co-segregated with GLS. This method was very efficient, but the markers were located outside of the gene, and could not be used in other germplasms. Then QTL analysis and fine mapping were conducted to identify the gene. Finally, the gene was narrowed down to a 241-kb region containing two disease resistance genes. To further identify the candidate gene, DNA variants between accessions Tanjil (resistant to GLS) and Unicrop (susceptible to GLS) were analyzed. The results indicated that only one SNP was detected in the 241 kb region. This SNP was located in the TMV resistance protein N-like gene region and also identified between 83A:476 and P27255. Genotyping the Tanjil/Unicrop RIL8 population showed that this SNP co-segregated with GLS resistance. The phylogenetic tree analysis of this gene among 18 lupin accessions indicates that Australian resistant breeding line/varieties were clustered into one group and carry two resistant alleles, while susceptible accessions were clustered into different groups.

20.
Plants (Basel) ; 10(8)2021 Jul 29.
Article in English | MEDLINE | ID: mdl-34451605

ABSTRACT

Waterlogging occurs when soil is saturated with water, leading to anaerobic conditions in the root zone of plants. Climate change is increasing the frequency of waterlogging events, resulting in considerable crop losses. Plants respond to waterlogging stress by adventitious root growth, aerenchyma formation, energy metabolism, and phytohormone signalling. Genotypes differ in biomass reduction, photosynthesis rate, adventitious roots development, and aerenchyma formation in response to waterlogging. We reviewed the detrimental effects of waterlogging on physiological and genetic mechanisms in four major cereal crops (rice, maize, wheat, and barley). The review covers current knowledge on waterlogging tolerance mechanism, genes, and quantitative trait loci (QTL) associated with waterlogging tolerance-related traits, the conventional and modern breeding methods used in developing waterlogging tolerant germplasm. Lastly, we describe candidate genes controlling waterlogging tolerance identified in model plants Arabidopsis and rice to identify homologous genes in the less waterlogging-tolerant maize, wheat, and barley.

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