Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 100
Filter
Add more filters

Country/Region as subject
Affiliation country
Publication year range
1.
Angew Chem Int Ed Engl ; 62(31): e202306495, 2023 Aug 01.
Article in English | MEDLINE | ID: mdl-37277694

ABSTRACT

Porous liquids (PLs), a summation of porous hosts and bulky solvents bestowing permanent cavities, are the prominent emerging materials. Despite great efforts, exploration of porous hosts and bulky solvents is still needed to develop new PL systems. Metal-organic polyhedra (MOPs) with discrete molecular architectures can be considered as porous hosts; however, many of them are insoluble entities. Here we report the transformation of type III PL to type II PLs by tuning the surface rigidity of insoluble MOP, Rh24 L24 , in a bulky ionic liquid (IL). Functionalization of N-donor molecules on Rh-Rh axial sites ensue their solubilization in bulky IL which confer type II PLs. Experimental and theoretical studies reveal the bulkiness of IL as per the cage apertures, and the cause of their dissolution as well. The obtained PLs, capturing more CO2 than neat solvent, have depicted higher catalytic activity for CO2 cycloaddition compared to individual MOPs and IL.

2.
Inorg Chem ; 61(27): 10393-10401, 2022 Jul 11.
Article in English | MEDLINE | ID: mdl-35765964

ABSTRACT

Hierarchically porous metal-organic frameworks (HP-MOFs), dominating both the micro- and mesoporous regimes, show high potentials in various applications especially those involving bulky biomolecules. The templating method has been proven to be effective in the fabrication of HP-MOFs; however, complicated synthetic systems containing solvents, templates, and additives are frequently employed. Here we report the first example of designing a poly(ethylene glycol)-based alkylammonium and bromide multifunctional ionic liquid (IL) as a solitary medium to construct HP-MOFs, avoiding the involvement of any additional media. Besides the ready solubilization of MOF precursors in the multifunctional IL due to a poly(ethylene glycol) chain as the solubilizer, the ionic moiety facilitates electrostatic interaction to create a templating effect. Hence, UiO-66 with hierarchical porosity has been successfully fabricated, and such a methodology can also be applied to the construction of other HP-MOFs. The resultant HP-UiO-66 is efficient in the encapsulation of bulky biomolecule cytochrome c, and the adsorption capacity is obviously superior to that of the microporous counterpart.


Subject(s)
Ionic Liquids , Metal-Organic Frameworks , Phthalic Acids , Polyethylene Glycols , Porosity
3.
Int J Mol Sci ; 23(14)2022 Jul 08.
Article in English | MEDLINE | ID: mdl-35886927

ABSTRACT

Common wheat (Triticum aestivum L.) is an important food crop with a unique processing quality. The Q gene positively regulates the processing quality of wheat, but the underlying mechanism remains unclear. Here, a new Q allele (Qc5) responsible for compact spikes and good bread performance was identified. Compared with the Q allele widely distributed in modern common wheat cultivars, Qc5 had a missense mutation outside the miRNA172-binding site. This missense mutation led to a more compact messenger RNA (mRNA) secondary structure around the miRNA172-binding region, resulting in increased Qc5 expression during the spike development stage and a consequent increase in spike density. Furthermore, this missense mutation weakened the physical interaction between Qc5 and storage protein activator (SPA) in seeds and suppressed the expression of storage protein repressor (SPR). These changes increased the grain protein content and improved the bread-making quality of wheat. In conclusion, a missense mutation increases Q expression because of the resulting highly folded mRNA secondary structure around the miRNA172-binding site. Furthermore, this mutation improves the bread-making quality of wheat by repressing the expression of SPR and influencing the physical interaction between Q and SPA. These findings provide new insights into the miRNA172-directed regulation of gene expression, with implications for wheat breeding.


Subject(s)
Bread , Triticum , Alleles , Bread/analysis , Plant Breeding , Plant Proteins/genetics , Plant Proteins/metabolism , RNA, Messenger/genetics , RNA, Messenger/metabolism , Surface Plasmon Resonance , Triticum/metabolism
4.
J Environ Manage ; 318: 115528, 2022 Sep 15.
Article in English | MEDLINE | ID: mdl-35724575

ABSTRACT

Black carbon (BC), the highly recalcitrant aromatic carbonaceous from the incomplete combustion of fossil fuel and biomass, is an important carbon sink in carbon cycle. Char and soot, the main components of BC, have significantly different origin and physicochemical characteristics (particle sizes and resultant transportability). The limited understanding of char and soot sources leads to poor insight into the effect of BC on carbon cycle. Sources of char and soot were investigated in this study using stable carbon isotopes to study the effect of BC on the organic carbon pool in a lake, thereby improving the knowledge of lacustrine carbon cycling. The concentration of BC in Taihu Lake ranged from 0.0 to 0.7 mg·L-1and accounted for 10.9 ± 4.7% of the particulate organic carbon. The spatial-mean δ13C values of BC, char, and soot were -23.2 ± 2.0‰, -23.5 ± 2.2‰, and -22.9 ± 1.6‰, respectively. The BC in water was primarily derived from fossil fuels (66.0 ± 9.3%), with liquid fossil fuel accounting for 48.2 ± 13.2% of the BC. The contribution of liquid fossil fuel to soot (49.3%) was much higher than that to char (36.1%); correspondingly, the contributions of biomass and coal to soot (29.2% and 21.5%) were lower than those to char (38.1% and 25.8%). The contribution of liquid fossil fuel combustion to organic carbon (OC), char, and soot gradually increased from 31.9% to 49.3%. Biomass and coal combustion primarily contributed to char (38.1% and 25.8%) and OC (37.5% and 30.6%). The source apportionment of BC, char, and soot revealed the influence of anthropogenically driven BC, char, and soot on the lake and, by extension, to the global carbon cycle.


Subject(s)
Air Pollutants , Soot , Air Pollutants/analysis , Carbon/analysis , Carbon Isotopes/analysis , China , Coal , Dust , Environmental Monitoring , Fossil Fuels , Lakes
5.
Angew Chem Int Ed Engl ; 61(50): e202212326, 2022 Dec 12.
Article in English | MEDLINE | ID: mdl-36261323

ABSTRACT

A porous liquid is a unique liquid medium that combines the cavity of porous solids with the fluidity of liquids. This special characteristic offers potential in various applications. Here we report a type II photoresponsive porous ionic liquid (PPIL) from dissolving a photoresponsive metal-organic polyhedron (PMOP, constructed from dicopper and azobenzene-containing carboxylate) in a polyethylene-glycol-functionalized bulky ionic liquid (IL). Owing to favorable ion interactions, bulky IL molecules encircle outside PMOP, and the inter cavities are maintained. The azobenzene moieties can be isomerized freely in the PPILs to expose and shelter active sites upon visible and UV light irradiation. Hence, the adsorption capacity of PPILs is controllable by light irradiation, and the change in CO2 uptake is up to 30 % compared to neat IL. This study may inspire the development of new adsorption process regulated by light instead of pressure and temperature swing adsorption.

6.
Environ Sci Technol ; 55(9): 6467-6475, 2021 05 04.
Article in English | MEDLINE | ID: mdl-33886307

ABSTRACT

The continuous flux of organic carbon (OC) from terrestrial ecosystems into inland water is an important component of the global carbon cycle. The buried OC pool in inland water sediments is considerable, and black carbon (BC) is a significant contributor to this OC pool because of the continuous growth in BC emissions. Therefore, determining the effect of BC on total OC burial and variations in the structure of BC during the burial process will contribute significantly to our understanding of lacustrine carbon cycling. This study investigated BC burial and its structural variations in response to anthropogenic drivers using four dated sedimentary cores from a deep plateau lake in China. The BC burial rate rose from 0.96 ± 0.64 g·m-2·y-1 (mean of sedimentary cores pre-1960s) to 4.83 ± 1.25 g·m-2·y-1 (after 2000), which is a 5.48 ± 2.12-fold rise. The increase of char was similar to those of BC. The growth rate of soot was 7.20 ± 4.30 times, which is higher than that of BC and char, increasing from 0.12 ± 0.08 to 0.64 ± 0.23 g·m-2·y-1. There was a decreasing trend in the ratio of char and soot at a mean rate of 62.8 ± 6.46% (excluding core 3) in relation to increased fossil fuel consumption. The contribution of BC to OC burial showed a significant increasing trend from the past to the present, particularly in cores 3 and 4, and the mean contribution of the four cores was 11.78 ± 2.84%. Source tracer results from positive matrix factorization confirmed that the substantial use of fossil fuels has promoted BC burial and altered the BC structure. This has resulted in BC with a higher aromatic content in the lake sediment, which exhibits reduced reactivity and increased stability. The strong correlation between BC and allochthonous total OC indicates that the input pathways of the buried BC in this plateau lake sediment were terrestrial surface processes and not atmospheric deposition.


Subject(s)
Lakes , Soot , Carbon/analysis , Carbon Sequestration , China , Ecosystem , Environmental Monitoring , Geologic Sediments , Soot/analysis
7.
Mol Breed ; 41(8): 49, 2021 Aug.
Article in English | MEDLINE | ID: mdl-37309542

ABSTRACT

Wheat is a major staple food crop worldwide because of the unique properties of wheat flour. High molecular weight glutenin subunits (HMW-GSs), which are among the most critical determinants of wheat flour quality, are responsible for the formation of glutenin polymeric structures via interchain disulfide bonds. We herein describe the identification of a new HMW-GS Dy10 allele (Dy10-m619SN). The amino acid substitution (serine-to-asparagine) encoded in this allele resulted in a partial post-translational cleavage that produced two new peptides. These new peptides disrupted the interactions among gluten proteins because of the associated changes to the number of available cysteine residues for interchain disulfide bonds. Consequently, Dy10-m619SN expression decreased the size of glutenin polymers and weakened glutens, which resulted in wheat dough with improved cookie-making quality, without changes to the glutenin-to-gliadin ratio. In this study, we clarified the post-translational processing of HMW-GSs and revealed a new genetic resource useful for wheat breeding. Supplementary Information: The online version contains supplementary material available at 10.1007/s11032-021-01238-9.

8.
Cytokine ; 86: 86-91, 2016 10.
Article in English | MEDLINE | ID: mdl-27497158

ABSTRACT

BACKGROUND AND AIMS: The interleukin (IL)-10-production B cells play an important role in the pathogenesis of atherosclerosis (Asro) with unknown mechanism. Micro RNA (miR)-17-92 cluster has strong immune regulatory activities. This study tests a hypothesis that miR-17-92 cluster suppresses IL-10 expression in B cells of Asro patients. METHODS: Patients with Asro were recruited into this study. Peripheral blood samples were collected from the patients. B cells were isolated from the blood samples and analyzed to elucidate the role of miR-17-92 in the regulation of IL-10 expression. RESULTS: Peripheral B cells from patients with Asro show lower levels of IL-10 than that from healthy subjects. The IL-10 expression in the B cells is negatively correlated with the expression of miR-19a in the B cells. The serum levels of tumor necrosis factor (TNF)-α, interferon (IFN)-γ and interleukin (IL)-4 in Asro patients were higher than healthy subjects. Exposure to TNF-α or IFN-γ or IL-4 suppressed IL-10 expression in B cells via increasing the expression of miR-19a in B cells, which could be abolished by Inhibition of miR-19a. CONCLUSIONS: TNF-α or IFN-γ or IL-4 suppresses IL-10 in B cells via up regulating miR-19a expression.


Subject(s)
Atherosclerosis/immunology , B-Lymphocytes/immunology , Interleukin-10/antagonists & inhibitors , Interleukin-10/genetics , MicroRNAs/genetics , RNA Interference , Atherosclerosis/blood , B-Lymphocytes/drug effects , Female , Humans , Interferon-gamma/blood , Interleukin-10/blood , Interleukin-10/immunology , Interleukin-4/blood , Male , MicroRNAs/immunology , MicroRNAs/metabolism , RNA, Long Noncoding , Real-Time Polymerase Chain Reaction , Tumor Necrosis Factor-alpha/blood
10.
Environ Sci Technol ; 50(18): 10179-86, 2016 09 20.
Article in English | MEDLINE | ID: mdl-27562531

ABSTRACT

Selenate (SeO4(2-)) bioreduction is possible with oxidation of a range of organic or inorganic electron donors, but it never has been reported with methane gas (CH4) as the electron donor. In this study, we achieved complete SeO4(2-) bioreduction in a membrane biofilm reactor (MBfR) using CH4 as the sole added electron donor. The introduction of nitrate (NO3(-)) slightly inhibited SeO4(2-) reduction, but the two oxyanions were simultaneously reduced, even when the supply rate of CH4 was limited. The main SeO4(2-)-reduction product was nanospherical Se(0), which was identified by scanning electron microscopy coupled to energy dispersive X-ray analysis (SEM-EDS). Community analysis provided evidence for two mechanisms for SeO4(2-) bioreduction in the CH4-based MBfR: a single methanotrophic genus, such as Methylomonas, performed CH4 oxidation directly coupled to SeO4(2-) reduction, and a methanotroph oxidized CH4 to form organic metabolites that were electron donors for a synergistic SeO4(2-)-reducing bacterium.


Subject(s)
Biofilms , Methane/metabolism , Bioreactors , Oxidation-Reduction , Selenic Acid
11.
Reproduction ; 147(3): 321-30, 2014 Mar.
Article in English | MEDLINE | ID: mdl-24357664

ABSTRACT

Cryodamage is a major problem in semen cryopreservation, causing changes in the levels of proteins that influence the function and motility of spermatozoa. In this study, protein samples prepared from fresh and frozen-thawed boar spermatozoa were compared using the isobaric tags for relative and absolute quantification (iTRAQ) labeling technique coupled to 2D LC-MS/MS analysis. A total of 41 differentially expressed proteins were identified and quantified, including 35 proteins that were present at higher levels and six proteins that were present at lower levels in frozen-thawed spermatozoa by at least a mean of 1.79-fold (P<0.05). On classifying into ten distinct categories using bioinformatic analysis, most of the 41 differentially expressed proteins were found to be closely relevant to sperm premature capacitation, adhesions, energy supply, and sperm-oocyte binding and fusion. The expression of four of these proteins, SOD1, TPI1, ODF2, and AKAP3, was verified by western blot analysis. We propose that alterations in these identified proteins affect the quality of cryopreserved semen and ultimately lower its fertilizing capacity. This is the first study to compare protein levels in fresh and frozen-thawed spermatozoa using the iTRAQ technology. Our preliminary results provide an overview of the molecular mechanisms of cryodamage in frozen-thawed spermatozoa and theoretical guidance to improve the cryopreservation of boar semen.


Subject(s)
Cryopreservation , Semen Preservation , Seminal Plasma Proteins/analysis , Spermatozoa/chemistry , Staining and Labeling/methods , Swine/metabolism , Tandem Mass Spectrometry/methods , Animals , Antioxidants/analysis , Antioxidants/metabolism , Chromatography, Liquid , Cryopreservation/veterinary , Freezing/adverse effects , Male , Oxidative Stress , Semen Analysis/methods , Semen Preservation/adverse effects , Semen Preservation/veterinary , Seminal Plasma Proteins/metabolism , Spermatozoa/metabolism
12.
Discov Med ; 36(180): 91-99, 2024 Jan.
Article in English | MEDLINE | ID: mdl-38273749

ABSTRACT

BACKGROUND: Dysphagia is a prevalent complication following partial laryngectomy. We aimed to introduce a novel bedside evaluation tool, the modified Gugging Swallowing Screen (GUSS), and evaluate its reliability and validity in patients with open partial laryngectomy before oral feeding. METHODS: We conducted a retrospective analysis of 120 patients with laryngeal cancer, including 40 hospitalized patients who underwent open partial laryngectomy. On the same day before oral feeding, we performed the modified GUSS, videofluoroscopic swallowing study (VFSS), and fiberoptic endoscopic evaluation of swallowing (FEES) to evaluate swallowing function. Two independent trained nurses assessed all patients for interrater reliability of modified GUSS. We compared the results of the modified GUSS with VFSS for predictive validity, and VFSS results for solid, semisolid, and liquid intake for content validity. RESULTS: The results of VFSS and FEES showed a strong correlation and consistency (rs = 0.952, p < 0.01; κ = 0.800 to 1.000, p < 0.01). The modified GUSS exhibited substantial to excellent interrater reliability across all classification categories (rs = 0.961, p < 0.01; κ = 0.600 to 1.000, p < 0.01) and demonstrated excellent consistency and predictive validity compared to VFSS (rs = -0.931, p < 0.01; κ = 0.800 to 1.000, p < 0.01). Content validity revealed that the risk of aspiration during solid intake was lower than that during semisolid intake (p < 0.01), and the risk of aspiration during semisolid intake was lower than that during liquid intake (p < 0.01), therefore confirming the subtest sequence of the modified GUSS. CONCLUSIONS: We successfully modified GUSS for patients with open partial laryngectomy. Moreover, the new bedside screening tool was validated as an effective tool for evaluating swallowing function and the risk of aspiration in patients with open partial laryngectomy before oral feeding.


Subject(s)
Deglutition Disorders , Deglutition , Humans , Retrospective Studies , Laryngectomy/adverse effects , Laryngectomy/methods , Reproducibility of Results , Deglutition Disorders/diagnostic imaging , Deglutition Disorders/etiology
13.
Mol Cell Biochem ; 379(1-2): 1-6, 2013 Jul.
Article in English | MEDLINE | ID: mdl-23660952

ABSTRACT

miRNAs play an important role in the pathogenesis of cardiac hypertrophy and dysfunction. However, little is known about how miR-30a regulates cardiomyocyte hypertrophy. In the study, Male C57BL/6 mice were subjected to thoracic aortic constriction, and hearts were harvested at 3 weeks. We assayed miR-30a expression level by real-time PCR and defined the molecular mechanisms of miR-30a-mediated cardiomyocyte hypertrophy. We found that myocardial expression of miR-30a was decreased in mouse models of hypertrophy and in H9c2 cells treated with phenylephrine. MiR-30a inhibition markedly increased mRNA expression of cardiac hypertrophy markers such as atrial natriuretic factor and brain natriuretic peptide in H9c2, and cell size was increased after miR-30a inhibitor treatment. Downregulated miR-30a activated autophagy by inhibiting beclin-1 expression in H9c2 cell. More important, autophagy inhibition suppressed miR-30a inhibitor-induced cardiomyocyte hypertrophy. Together, our data demonstrated that downregulated miR-30a aggravates pressure overload-induced cardiomyocyte hypertrophy by activating autophagy, thus offering a new target for the therapy of cardiomyocyte hypertrophy.


Subject(s)
Cardiomegaly/metabolism , Hypertension/metabolism , MicroRNAs/genetics , 3' Untranslated Regions , Animals , Atrial Natriuretic Factor/genetics , Atrial Natriuretic Factor/metabolism , Autophagy , Cardiomegaly/etiology , Cardiomegaly/pathology , Cell Line , Cell Size , Down-Regulation , Gene Expression Regulation , HEK293 Cells , Humans , Hypertension/complications , Hypertension/pathology , Male , Mice , Mice, Inbred C57BL , MicroRNAs/metabolism , Myocardium/metabolism , Myocardium/pathology , Myocytes, Cardiac/metabolism , Myocytes, Cardiac/pathology , Natriuretic Peptide, Brain/genetics , Natriuretic Peptide, Brain/metabolism , Rats
14.
Zhonghua Yan Ke Za Zhi ; 49(7): 577-9, 2013 Jul.
Article in Zh | MEDLINE | ID: mdl-24257349

ABSTRACT

World Heath Organization (WHO) put forward a global initiative to eliminate avoidable blindness by 2020. The avoidable blindness includes blindness in children such as amblyopia. The critical period of human visual development is from 0 to 3 years old when is just in the period of infancy and young childhood, therefore vision screening for infants and young children should be attached importance, which is critical significant to the children blindness prevention. Due to many aspects of causes, the vision and related risk factor screening for the infants and young children in China is still faced with many challenges. The article strengthened the aspects of the importance of vision screening for infants and young children and put forward some strategies and suggestions.


Subject(s)
Vision Disorders/prevention & control , Vision Screening , Child, Preschool , China , Humans , Infant
15.
Zhonghua Yan Ke Za Zhi ; 49(6): 484-7, 2013 Jun.
Article in Zh | MEDLINE | ID: mdl-24119959

ABSTRACT

Hereditary retinal disease(HRD) is a group of retinal degenerations seen frequently at clinic,which can lead to severe visual impairments or even blindness.Identifying genetic causes and developing advanced and applicable molecular diagnostic tools for HRD is essential to lower the prevalence of HRD, and to find the therapeutic method of HRD. HRD is known to be both clinically and genetically heterogeneous. The large number of causative genes together with the limitation of routine technique hinder the investigators from further investigating the genetic causes of HRD. Targeted genes capture with next-generation high throughput sequencing yield high sensitivity and speed for mutation detection.When compared with traditional techniques, targeted sequencing presents tremendous advantages. Therefore, the development of a powerful molecular diagnostic platform for HRD aims to improve the detection rate of causative genes/mutations in HRD patients, to further investigate the genetic causes for HRD, to better understand the pathological basis of HRD, and to promote the fast development of molecular diagnosis in China. Meanwhile, it will have significance for the clinical and prenatal diagnosis of HRD, and thus providing rationale for gene therapy on HRD.


Subject(s)
Molecular Diagnostic Techniques , Retinal Diseases/diagnosis , Retinal Diseases/genetics , Humans
16.
Zhonghua Yan Ke Za Zhi ; 49(7): 593-8, 2013 Jul.
Article in Zh | MEDLINE | ID: mdl-24257353

ABSTRACT

OBJECTIVE: To demonstrate the surgical choices for patients with complicated head posture associated with nystagmus. METHODS: It was a retrospective clinical study. Thirty-eight cases of congenital nystagmus with abnormal head posture in all three axes without strabismus were retrospectively analyzed. Twenty-nine(76.32%) cases whose dominant head posture were with face turn, 3 cases (7.89%) with chin up or down , respectively, were performed horizontal null zone shift as well as vertical null zone transposition; 2 cases (5.26%) with head tilt as the dominant position were underwent one tendon width transposition of all four vertical muscles;4 cases (10.53%)basically with the same degree for face turn and chip up or down, 2 cases were preferred with recess a group of horizontal yoke muscles and a group of vertical yoke muscles, the other 2 cases were combined with weaken both synergistic oblique muscles. SPSS 13.0 was used to analyse the difference of them. RESULTS: In 29 patients with horizontal head posture dominanted, 15 cases (68.18%) with 25 °-30 ° in horizontal head posture were corrected completely, 5°-15° was the residue for 7 cases (31.82%) with 35 °- 40 °degree in horizontal before surgery. 15 °-20° was residue for 3 cases larger than 40 ° before operation after modified Parks procedure. Anderson procedure can correct the angle of 15°-20° in 4 cases. The horizontal, vertical and torsional components of 22 cases whose predominant head posture were in horizontal with 25°-40° (3.18° ± 1.01°, 4.32° ± 1.14°, 4.55° ± 1.95°) were significantly reduced (t = 63.13, 3.57, 3.95;P < 0.01) after Parks procedure. Recession a group of vertical muscles 5mm or combined with oblique muscles in 3 patients could correct the 20° of vertical head posture, but the improvement of the other two axes was about 5°-10°.One tendon width transposition of all four vertical muscles in 2 cases could correct the 10° of head tilt and 10°-15°of chip up or down. Recession a group of horizontal and vertical muscles can correct 20°-25° of face turn and 20° of vertical head posture. CONCLUSIONS: When head turn with 25°-40°predominates over the vertical and torsional components, recess the horizontal muscles could be effective way in diminishing the abnormal head position on all three axes.When vertical or torsional head posture predominates for the complicated nystagmus, individual designs should be considered.When necessary, reoperations should be needed.


Subject(s)
Nystagmus, Pathologic/surgery , Ophthalmologic Surgical Procedures , Posture , Adolescent , Adult , Child , Child, Preschool , Female , Head , Humans , Male , Retrospective Studies , Treatment Outcome , Young Adult
17.
Zhonghua Yan Ke Za Zhi ; 49(12): 1104-10, 2013 Dec.
Article in Zh | MEDLINE | ID: mdl-24499697

ABSTRACT

OBJECTIVE: To identify the pathogenic mutation in a four-generation Chinese family with autosomal dominant retinitis pigmentosa (ADRP) and to analyze its associated clinical phenotypes. METHODS: Twelve participants from the index family were recruited, including 5 patients, 6 asymptomatic siblings, and one spouse. All participants underwent ophthalmic examinations, including best-corrected visual acuity (BCVA), visual field (VF) testing, fundus photography, and full-field flash electroretinography (ERG). Targeted sequence capture array technique with next-generation of high throughput sequencing(NGS) was performed to detect variants in 189 hereditary retinal disease (HRD) related genes, comprising 179 identified HRD-causing genes and 10 potential causative genes which were involved in pre-messenger RNA(pre-mRNA) splicing. Variants detected by targeted sequencing were filtered by bioinformatic analyses, validated by Sanger sequencing and intra-familiar analysis.Genotype-phenotype correlation was also analyzed. RESULTS: SNRNP200 p.S1087L was identified as the disease causative mutation for this family by targeted sequencing and optimized bioinformatic analyses. This family demonstrated early onset of the disease by presenting nyctalopia among 6 to 8 years old, performed rapid disease progression and severely impaired visual function by displaying loss of VF among 14 to 17 years old and decreased central vision among 21 to 28 years old. The fundus presentations and ERG results showed typical RP presentations. CONCLUSIONS: SNRNP200 p.S1087L is identified as a hotspot mutation but correlates with distinct phenotypes in the present family, including early onset of the disease, rapid disease progression, and severely impaired visual function. This study also give evidence to that molecular diagnostic platform for HRD can improve the detection rate of causative genes/mutations in HRD patients, thus providing important approaches for further investigation of the genetic causes for HRD.


Subject(s)
Mutation , Retinitis Pigmentosa/genetics , Ribonucleoproteins, Small Nuclear/genetics , Adolescent , Adult , Amino Acid Sequence , Child , Female , Humans , Male , Pedigree , Phenotype , Retinitis Pigmentosa/diagnosis , Young Adult
18.
Int J Cardiol ; 371: 480-485, 2023 Jan 15.
Article in English | MEDLINE | ID: mdl-36115439

ABSTRACT

BACKGROUND: The dynamic changes and apical aneurysm formation in apical hypertrophic cardiomyopathy (HCM) have not been specifically described. This study aimed to describe these changes to better understand the progression of apical HCM. METHODS AND RESULTS: Seventy-two patients with apical HCM who underwent at least two cardiac magnetic resonance (CMR) examinations were retrospectively included in this study. The mean interval between the first and last CMR examinations was 50.1 ± 26.8 months (ranging from 4 to 118 months). Compared with the initial values, the left atrial diameter, maximum left ventricular wall thickness and late gadolinium enhancement extent significantly increased (all P < 0.05), while the left ventricular ejection fraction significantly decreased (P < 0.05), at the latest CMR examination. More importantly, the dynamic process of apical aneurysm formation in apical HCM was observed in a subset of patients, which may follow these four stages: starting with systolic apical cavity obliteration, then broadening of the apical slit in systole, further developing into an apical outpouching, and finally forming an apical aneurysm. Eleven patients experienced adverse cardiovascular events, including new-onset or progressive atrial fibrillation (n = 7), hospitalization with heart failure (n = 3) and implantable cardioverter defibrillator intervention (n = 1), at the time of the latest CMR examination. CONCLUSIONS: In the progression of apical HCM, cardiac structure and function will change accordingly. Apical aneurysm formation in apical HCM is a chronic and continuous dynamic process that may follow a 4-step pathway of disease progression.


Subject(s)
Aneurysm , Apical Hypertrophic Cardiomyopathy , Cardiomyopathy, Hypertrophic , Humans , Pilot Projects , Gadolinium , Contrast Media , Ventricular Function, Left , Stroke Volume , Retrospective Studies , Magnetic Resonance Spectroscopy
19.
Water Res ; 247: 120808, 2023 Dec 01.
Article in English | MEDLINE | ID: mdl-37924684

ABSTRACT

Dissolved inorganic carbon (DIC) represents a major global carbon pool and the flux from rivers to oceans has been observed to be increasing. The effect of weathering with respect to increasing DIC has been widely studied in recent decades; however, the influence of dissolved organic matter (DOM) on increasing DIC in large rivers remains unclear. This study employed stable carbon isotopes and Fourier transform ion cyclotron mass spectrometry (FT-ICR MS) to investigate the effect of the molecular composition of DOM on the DIC in the Yangtze River. The results showed that organic matter is an important source of DIC in the Yangtze River, accounting for 40.0 ± 12.1 % and 32.0 ± 7.2 % of DIC in wet and dry seasons, respectively, and increased along the river by approximately three times. Nitrogen (N)-containing DOM, an important composition in DOM with a percentage of ∼40 %, showed superior oxidation state than non N-containing DOM, suggesting that the presence of N could improve the degradable potential of DOM. Positive relationship between organic sourced DIC (DICOC) and N-containing DOM formulae indicated that N-containing DOM is crucial to facilitate the mineralization of DOM to DICOC. N-containg molecular formular with low H/C and O/C ratio were positively correlated with DICOC further verified these energy-rich and biolabile compounds are preferentially decomposed by bacteria to produce DIC. N-containing components significantly accelerated the degradation of DOM to DICOC, which is important for understanding the CO2 emission and carbon cycling in large rivers.


Subject(s)
Dissolved Organic Matter , Rivers , Rivers/chemistry , Carbon Isotopes , Mass Spectrometry , China , Nitrogen , Carbon
20.
Zhonghua Yan Ke Za Zhi ; 48(11): 991-4, 2012 Nov.
Article in Zh | MEDLINE | ID: mdl-23302272

ABSTRACT

OBJECTIVE: The purpose of this research lied in studying the structure and function of connective tissue of inferior oblique (IO) in rhesus, rabbit and rat. METHODS: It was an experimental study. Two adult monkeys (rhesus), five adult rabbits and five adult Wistar rats were involved in this study. The gross anatomy of an orbit in each animal was observed. Meanwhile, the fellow orbit was processed with paraffin imbedding and coronal serial section. Masson trichrome stain was used to distinguish muscle and collagen, and Weigert stain was performed for identification of elastin. RESULTS: The connective tissue around IO muscle in rhesus, rabbits and rats all connected with inferior rectus (IR) and lateral rectus (LR), but the arrangements among them were not entirely similar. Only the connective tissue around IO in rhesus consisted of dense collagen, scattered elastic fiber, and connected closely with IR, LR Pulley. The connective tissue circling IO in rabbit and rat were crumbly, and was not connected closely with the connective tissue around IR. CONCLUSION: IR and LR Pulley has some mechanics link with IO in rhesus, and can play roles in covergence in rhesus.


Subject(s)
Connective Tissue/anatomy & histology , Oculomotor Muscles/anatomy & histology , Animals , Connective Tissue/physiology , Macaca mulatta , Oculomotor Muscles/physiology , Rabbits , Rats , Rats, Wistar
SELECTION OF CITATIONS
SEARCH DETAIL