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1.
Biomed Pharmacother ; 174: 116556, 2024 May.
Article in English | MEDLINE | ID: mdl-38636398

ABSTRACT

Skeletal muscle atrophy is a common complication of chronic kidney disease (CKD) that affects the quality of life and prognosis of patients. We aimed to investigate the effects and mechanisms of caffeic acid (CA), a natural phenolic compound, on skeletal muscle atrophy in CKD rats. Male Sprague-Dawley rats underwent 5/6 nephrectomy (NPM) and were treated with CA (20, 40, or 80 mg/kg/day) for 10 weeks. The body and muscle weights, renal function, hemoglobin, and albumin were measured. The histological, molecular, and biochemical changes in skeletal muscles were evaluated using hematoxylin-eosin staining, quantitative real-time PCR, malondialdehyde/catalase/superoxide dismutase/glutathione level detection, and enzyme-linked immunosorbent assay. Western blotting and network pharmacology were applied to identify the potential targets and pathways of CA, CKD, and muscle atrophy. The results showed that CA significantly improved NPM-induced muscle-catabolic effects, reduced the expression of muscle atrophy-related proteins (muscle atrophy F-box and muscle RING finger 1) and proinflammatory cytokines (interleukin [IL]-6, tumor necrosis factor-alpha, and IL-1ß), and attenuated muscle oxidative stress. Network pharmacology revealed that CA modulated the response to oxidative stress and nuclear factor kappa B (NF-κB) signaling pathway and that Toll-like receptor 4 (TLR4) was a key target. In vivo experiment confirmed that CA inhibited the TLR4/myeloid differentiation primary response 88 (MYD88)/NF-kB signaling pathway, reduced muscle iron levels, and restored glutathione peroxidase 4 activity, thereby alleviating ferroptosis and inflammation in skeletal muscles. Thus, CA might be a promising therapeutic agent for preventing and treating skeletal muscle atrophy in CKD by modulating the TLR4/MYD88/NF-κB pathway and ferroptosis.


Subject(s)
Caffeic Acids , Muscular Atrophy , Myeloid Differentiation Factor 88 , Renal Insufficiency, Chronic , Signal Transduction , Animals , Male , Rats , Caffeic Acids/pharmacology , Cytokines/metabolism , Muscle, Skeletal/drug effects , Muscle, Skeletal/pathology , Muscle, Skeletal/metabolism , Muscular Atrophy/drug therapy , Muscular Atrophy/pathology , Muscular Atrophy/etiology , Muscular Atrophy/prevention & control , Muscular Atrophy/metabolism , Myeloid Differentiation Factor 88/metabolism , Nephrectomy/adverse effects , NF-kappa B/metabolism , Oxidative Stress/drug effects , Rats, Sprague-Dawley , Renal Insufficiency, Chronic/drug therapy , Renal Insufficiency, Chronic/metabolism , Renal Insufficiency, Chronic/pathology , Signal Transduction/drug effects , Toll-Like Receptor 4/metabolism
2.
Chin Med ; 19(1): 31, 2024 Feb 25.
Article in English | MEDLINE | ID: mdl-38403669

ABSTRACT

BACKGROUND: Diabetic kidney disease (DKD) represents a microvascular complication of diabetes mellitus. Shenkang Pills (SKP), a traditional Chinese medicine formula, has been widely used in the treatment of DKD and has obvious antioxidant effect. Ferroptosis, a novel mode of cell death due to iron overload, has been shown to be associated with DKD. Nevertheless, the precise effects and underlying mechanisms of SKP on ferroptosis in diabetic kidney disease remain unclear. METHODS: The active components of SKP were retrieved from the Traditional Chinese Medicine Systems Pharmacology (TCMSP) database. Protein-protein interaction (PPI) network and Herb-ingredient-targets gene network were constructed using Cytoscape. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analyses were conducted utilizing the Metascape system database. Additionally, an in vivo model of DKD induced by Streptozotocin (STZ) was established to further investigate and validate the possible mechanisms underlying the effectiveness of SKP. RESULTS: We retrieved 56 compounds and identified 223 targets of SKP through the TCMSP database. Key targets were ascertained using PPI network analysis. By constructing a Herb-Ingredient-Targets gene network, we isolated the primary active components in SKP that potentially counteract ferroptosis in diabetic kidney disease. KEGG pathway enrichment analysis suggested that SKP has the potential to alleviate ferroptosis through HIF signaling pathway, thereby mitigating renal injury in DKD. In animal experiments, fasting blood glucose, 24 h urine protein, urea nitrogen and serum creatine were measured. The results showed that SKP could improve DKD. Results from animal experiments were also confirmed the efficacy of SKP in alleviating renal fibrosis, oxidative stress and ferroptosis in DKD mice. These effects were accompanied by the significant reductions in renal tissue expression of HIF-1α and HO-1 proteins. The mRNA and immunohistochemistry results were the same as above. CONCLUSIONS: SKP potentially mitigating renal injury in DKD by subduing ferroptosis through the intricacies of the HIF-1α/HO-1 signaling pathway.

3.
Biomed Pharmacother ; 171: 116208, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38286036

ABSTRACT

Diabetic kidney disease (DKD) stands as a pressing health challenge, with mesangial cell fibrosis identified as a pivotal hallmark leading to glomerular sclerosis. Gaining a deeper grasp on the molecular dynamics behind this can potentially introduce groundbreaking therapeutic avenues. Recent revelations from studies on ROCK1-deficient mice, which displayed resilience against high-fat diet (HFD)-induced glomerulosclerosis and mitochondrial fragmentation, spurred our hypothesis regarding ROCK1's potential role in mesangial cell fibrosis. Subsequent rigorous experiments corroborated our theory, highlighting the critical role of ROCK1 in orchestrating mesangial cell proliferation and fibrosis, especially in high-glucose settings. Mechanistically, ROCK1 inhibition led to a notable hindrance in the high-glucose-triggered MAPK signaling pathway, particularly emphasizing the ROCK1/ERK/P38 axis. To translate this understanding into potential therapeutic interventions, we embarked on a comprehensive drug screening journey. Leveraging molecular modeling techniques, Myricetin surfaced as an efficacious inhibitor of ROCK1. Dose-dependent in vitro assays substantiated Myricetin's prowess in curtailing mesangial cell proliferation and fibrosis via ROCK1/ERK/P38 pathway. In vivo verifications paralleled these findings, with Myricetin treatment resulting in significant renal function enhancements and diminished DKD pathological markers, all pivoted around the ROCK1/ERK/P38 nexus. These findings not only deepen our comprehension of DKD molecular underpinnings but also elevate ROCK1 to the pedestal of a promising therapeutic beacon. Concurrently, Myricetin is spotlighted as a potent natural contender, heralding a new era in DKD therapeutic design.


Subject(s)
Diabetes Mellitus , Diabetic Nephropathies , Animals , Mice , Diabetic Nephropathies/metabolism , Flavonoids/pharmacology , Mesangial Cells/metabolism , Glucose/metabolism , Fibrosis , Kidney , Diabetes Mellitus/metabolism
4.
Org Lett ; 25(37): 6853-6857, 2023 Sep 22.
Article in English | MEDLINE | ID: mdl-37682751

ABSTRACT

A Cu-catalyzed diastereoselective [3 + 2] cycloaddition of 2-arylaziridines and cyclic silyl dienol ethers was developed to efficiently construct fused-[5,n] carbocyclic pyrrolidines, which are widespread in bioactive natural products. Mechanistic studies revealed that the high diastereoselectivity of this transformation arose from a sequential retro aza-Michael/epimerization/aza-Michael process. Taking advantage of this newly developed method, the first total syntheses of pancratinines B and C were concisely realized.

6.
Int Urol Nephrol ; 55(10): 2647-2656, 2023 Oct.
Article in English | MEDLINE | ID: mdl-36964822

ABSTRACT

PURPOSE: To examine the relationship between Neutrophil-Lymphocyte Ratio (NLR) and Acute Kidney Injury (AKI) in patients undergoing noncardiac surgery, and subgroup analysis was performed for different types of non-cardiac surgery. METHODS: The present retrospective cohort study included 10,159 adult patients who underwent major noncardiac surgery at Nanfang Hospital, Southern Medical University, between 2008 and 2018. Postoperative AKI was defined as an increase in serum creatinine level of at least 0.3 mg/dl within 48 h, or 1.5 times higher than baseline within 7 days postoperatively according to the Kidney Disease Improving Global Outcome. The correlation between preoperative NLR and postoperative AKI was determined by stepwise multivariate logistic regression analysis, and the predictive value of NLR was evaluated by the receiver operating characteristics curve (ROC) analysis. RESULTS: Four hundred and eighty-five (4.77%) patients developed AKI postoperatively. Preoperative NLR was independently associated with postoperative AKI in all patients undergoing non-cardiac surgery (Odds ratio [OR], 1.03; 95% confidence interval [CI], 1.00-1.06). The optimal cut-off value of NLR was 2.12 according ROC analysis. The OR and 95% CI of AKI for NLR > 2.12 was 1.48 (1.21-1.81) compared with NLR ≤ 2.12. In addition, the positive association was mainly shown in patients undergone digestive system surgery with a cut-off value of 2.12 but not in neurological and musculoskeletal system surgeries. CONCLUSION: The present study confirmed the association of preoperative NLR with postoperative AKI in digestive system surgical patients. A NLR value of 2.12 may be a useful cut-off to evaluate the risk of AKI.


Subject(s)
Acute Kidney Injury , Neutrophils , Adult , Humans , Retrospective Studies , Lymphocytes , ROC Curve , Acute Kidney Injury/diagnosis , Acute Kidney Injury/etiology , Postoperative Complications/etiology , Risk Factors
7.
J Med Internet Res ; 25: e44932, 2023 03 16.
Article in English | MEDLINE | ID: mdl-36927843

ABSTRACT

BACKGROUND: Psoriasis is one of the most frequent inflammatory skin conditions and could be treated via tele-dermatology, provided that the current lack of reliable tools for objective severity assessments is overcome. Psoriasis Area and Severity Index (PASI) has a prominent level of subjectivity and is rarely used in real practice, although it is the most widely accepted metric for measuring psoriasis severity currently. OBJECTIVE: This study aimed to develop an image-artificial intelligence (AI)-based validated system for severity assessment with the explicit intention of facilitating long-term management of patients with psoriasis. METHODS: A deep learning system was trained to estimate the PASI score by using 14,096 images from 2367 patients with psoriasis. We used 1962 patients from January 2015 to April 2021 to train the model and the other 405 patients from May 2021 to July 2021 to validate it. A multiview feature enhancement block was designed to combine vision features from different perspectives to better simulate the visual diagnostic method in clinical practice. A classification header along with a regression header was simultaneously applied to generate PASI scores, and an extra cross-teacher header after these 2 headers was designed to revise their output. The mean average error (MAE) was used as the metric to evaluate the accuracy of the predicted PASI score. By making the model minimize the MAE value, the model becomes closer to the target value. Then, the proposed model was compared with 43 experienced dermatologists. Finally, the proposed model was deployed into an app named SkinTeller on the WeChat platform. RESULTS: The proposed image-AI-based PASI-estimating model outperformed the average performance of 43 experienced dermatologists with a 33.2% performance gain in the overall PASI score. The model achieved the smallest MAE of 2.05 at 3 input images by the ablation experiment. In other words, for the task of psoriasis severity assessment, the severity score predicted by our model was close to the PASI score diagnosed by experienced dermatologists. The SkinTeller app has been used 3369 times for PASI scoring in 1497 patients from 18 hospitals, and its excellent performance was confirmed by a feedback survey of 43 dermatologist users. CONCLUSIONS: An image-AI-based psoriasis severity assessment model has been proposed to automatically calculate PASI scores in an efficient, objective, and accurate manner. The SkinTeller app may be a promising alternative for dermatologists' accurate assessment in the real world and chronic disease self-management in patients with psoriasis.


Subject(s)
Artificial Intelligence , Psoriasis , Humans , Severity of Illness Index , Psoriasis/diagnosis , Chronic Disease , Surveys and Questionnaires
8.
J Cell Mol Med ; 26(24): 6066-6078, 2022 12.
Article in English | MEDLINE | ID: mdl-36458537

ABSTRACT

Chronic kidney disease (CKD) affects approximately 10% of the global population. Muscle atrophy occurs in patients with almost all types of CKD, and the gut microbiome is closely related to protein consumption during chronic renal failure (CRF). This study investigated the effects of Bacteroides plebeius on protein energy consumption in rats with CKD, and our results suggest that Bacteroides plebeius may combat muscle atrophy through the Mystn/ActRIIB/SMAD2 pathway. A total of 5/6 Nx rats were used as a model of muscle wasting in CKD. The rats with muscle wasting were administered Bacteroides plebeius (2 × 108 cfu/0.2 ml) for 8 weeks. The results showed that Bacteroides plebeius administration significantly inhibited muscle wasting in CKD. High-throughput 16 S rRNA pyrosequencing revealed that supplementation with Bacteroides plebeius rescued disturbances in the gut microbiota. Bacteroides plebeius could also enhance the barrier function of the intestinal mucosa. Bacteroides plebeius may modulate the gut microbiome and reduce protein consumption by increasing the abundance of probiotics and reducing damage to the intestinal mucosal barrier. Our findings suggest that Bacteroides plebeius may combat muscle atrophy through the Mystn/ActRIIB/SMAD2 pathway.


Subject(s)
Renal Insufficiency, Chronic , Rats , Animals , Renal Insufficiency, Chronic/complications , Muscular Atrophy/etiology , Muscles , Dietary Proteins
9.
Cytokine Growth Factor Rev ; 68: 37-53, 2022 12.
Article in English | MEDLINE | ID: mdl-36280532

ABSTRACT

Respiratory syncytial virus (RSV) is a single-stranded negative-sense RNA virus that is the primary etiologic pathogen of bronchitis and pneumonia in infants and the elderly. Currently, no preventative vaccine has been approved for RSV infection. However, advances in the characterization, and structural resolution, of the RSV surface fusion glycoprotein have revolutionized RSV vaccine development by providing a new target for preventive interventions. In general, six different approaches have been adopted in the development of preventative RSV therapeutics, namely, particle-based vaccines, vector-based vaccines, live-attenuated or chimeric vaccines, subunit vaccines, mRNA vaccines, and monoclonal antibodies. Among these preventive interventions, MVA-BN-RSV, RSVpreF3, RSVpreF, Ad26. RSV.preF, nirsevimab, clesrovimab and mRNA-1345 is being tested in phase 3 clinical trials, and displays the most promising in infant or elderly populations. Accompanied by the huge success of mRNA vaccines in COVID-19, mRNA vaccines have been rapidly developed, with many having entered clinical studies, in which they have demonstrated encouraging results and acceptable safety profiles. In fact, Moderna has received FDA approval, granting fast-track designation for an investigational single-dose mRNA-1345 vaccine against RSV in adults over 60 years of age. Hence, mRNA vaccines may represent a new, more successful, chapter in the continued battle to develop effective preventative measures against RSV. This review discusses the structure, life cycle, and brief history of RSV, while also presenting the current advancements in RSV preventatives, with a focus on the latest progress in RSV mRNA vaccine development. Finally, future prospects for this field are presented.


Subject(s)
COVID-19 , Respiratory Syncytial Virus Infections , Respiratory Syncytial Virus Vaccines , Respiratory Syncytial Virus, Human , Adult , Humans , Middle Aged , Aged , mRNA Vaccines , Antibodies, Viral , Respiratory Syncytial Virus, Human/genetics , Respiratory Syncytial Virus Vaccines/genetics , Respiratory Syncytial Virus Vaccines/therapeutic use , Respiratory Syncytial Virus Infections/prevention & control , RNA, Messenger/genetics
10.
Inorg Chem ; 60(5): 3156-3164, 2021 Mar 01.
Article in English | MEDLINE | ID: mdl-33591741

ABSTRACT

A bifunctional ligand strategy for modification of the functional pores is of great significance in the structural design of metal-organic frameworks (MOFs). Herein, a new 2-fold interpenetrated "pillared-layer" 3D Co-MOF, {[Co(HL)(4,4'-bipy)]·DMF·2H2O}n (1), was successfully synthesized by using two kinds of ligands, imidazolecarboxylic acid and pyridine. The metal-carboxylic layers are pillared by the 4,4'-bipy ligand, displaying a 3D framework with rectangular 3D channels (high BET surface of 190.9 m2 g-1 and maximum aperture of 3.9 Å) that are decorated with abundant uncoordinated N and O atoms. 1 shows good water stability and thermal stability (320 °C). The proper pores and active sites endowed 1 with a selective adsorption of Congo red in aqueous solution. In addition, a high CO2 adsorption capacity and an excellent CO2 chemical conversion were observed.

11.
Mol Med Rep ; 22(5): 3886-3894, 2020 Nov.
Article in English | MEDLINE | ID: mdl-33000228

ABSTRACT

Emerging evidence has indicated that long non­coding RNAs (lncRNAs) are closely associated with the pathogenesis of ischemic stroke. It has been reported that small nucleolar RNA host gene 12 (SNHG12) serves a critical role in ischemic stroke by acting as a competitive endogenous RNA (ceRNA). SNHG12 competes with various microRNAs (miRs) to regulate RNA transcription of specific targets. However, the effect of SNHG12 on oxygen­glucose deprivation (OGD)­induced neuronal apoptosis has rarely been reported. The present study demonstrated that SNHG12 expression was downregulated in OGD­injured SH­SY5Y cells. Furthermore, miR­181a­5p was reported as a target of SNHG12 and was negatively regulated by SNHG12. Moreover, NEGR1 was a target of miR­181a­5p, which functions as a negative regulator of NEGR1 in OGD­induced neuronal apoptosis. In summary, the results strongly confirmed the hypothesis that SNHG12 functions as a ceRNA for miR­181a­5p and regulates the expression of NEGR1 thus inhibiting OGD­induced apoptosis of SH­SY5Y cells. Neuronal apoptosis aggravates brain damage during ischemic stroke, indicating that the activation of SNHG12 and NEGR1 expression and inhibition of miR­181a­5p may be a novel strategy for the clinical treatment of ischemic stroke.


Subject(s)
Apoptosis/genetics , Bone Marrow Neoplasms/metabolism , Cell Adhesion Molecules, Neuronal/metabolism , Glucose/metabolism , MicroRNAs/metabolism , Neuroblastoma/metabolism , Neurons/metabolism , Oxygen/metabolism , RNA, Long Noncoding/metabolism , Signal Transduction/genetics , Bone Marrow Neoplasms/pathology , Brain Ischemia/metabolism , Cell Line, Tumor , GPI-Linked Proteins/metabolism , Gene Expression Regulation, Neoplastic , Humans , MicroRNAs/genetics , Neuroblastoma/pathology , RNA, Long Noncoding/genetics , Stroke/metabolism , Transfection
12.
Inorg Chem ; 59(6): 3912-3918, 2020 Mar 16.
Article in English | MEDLINE | ID: mdl-32133845

ABSTRACT

Metal-organic frameworks (MOFs) with zeolitic structure process fantastic structural metrics and display excellent applications in many aspects; however, they are difficult to assemble. Herein, on the basis of a tetrahedral Zn4O cluster and a 3,5-bis(2,4-dicarboxylphenyl)nitrobenzene (H4L) ligand, a novel sodalite (SOD) zeolitic cluster framework (ZCF), {[Zn4(O)(L)2]·4DMF·6H2O}n (ZCF-1; DMF = N,N-dimethylformamide), has been hydrothermally synthesized. Compared with the traditional SOD zeolitic framework of ZIF-8, the cage size of ZCF-1 is dramatically improved from 16.9 to 29.2 Å by the introduction of longer tetradentate carboxylic ligands. Moreover, because of the functional nitryl group in the ligand, ZCF-1 exhibits a high CO2/CH4 selectivity. Hence, further research on the chemical fixation of CO2 is implemented, which reveals excellent heterogeneous catalytic activity and durability. Especially, a unique selective catalytic performance with a high yield of 88.3% on a larger molecular size reactant (glycidyl phenyl ether) is observed, which is attributed to the stereoselection effect of the superlarge cage and abundant Zn4O catalytic clusters in ZCF-1.

13.
Mol Genet Genomic Med ; 8(1): e1065, 2020 01.
Article in English | MEDLINE | ID: mdl-31777199

ABSTRACT

BACKGROUND: X-linked adrenoleukodystrophy (ALD) is one of the most common peroxisomal disorders characterized by abnormal accumulation of very long-chain fatty acids (VLCFA) in plasma and tissues and caused by mutations within ABCD1. Clinically, ALD present with various phenotypes, ranging from asymptomatic type to rapidly progressive childhood cerebral form. However, no remarkable abnormality in cerebral white matter usually makes it difficult to distinguish adult ALD from hereditary spastic paraplegia (HSP). METHODS: We analyzed the features of seven Chinese ALD patients who had a primary phenotype of spastic paraplegia. Sequencing was performed in the probands and their familial members. Detailed clinical, VLCFAs test, hormone test, magnetic resonance imaging, and electromyogram are presented. RESULTS: We reported seven ALD patients from a Chinese cohort of 142 HSP patients. Genetic investigations revealed five known ABCD1 mutations (c.346G>C, c.521A>G, c.829G>T, c.1415_1416delAG, and c.1849C>T) and two novel mutations (c.454C>G, c.1452_1482del). Further auxiliary testing revealed that they had higher VLCFA and/or adrenal insufficiency. CONCLUSIONS: Our findings expand the mutation spectrum of ABCD1 and indicate that ALD represent a significant portion (4.9%, 7/142) of the spastic paraplegia entities. ALD should be considered in male patients with spastic paraplegia, even if there was no positive family history.


Subject(s)
Adrenoleukodystrophy/genetics , Paraplegia/genetics , Phenotype , ATP Binding Cassette Transporter, Subfamily D, Member 1/genetics , Adrenoleukodystrophy/pathology , Adult , Humans , Male , Mutation , Paraplegia/pathology
14.
Angew Chem Int Ed Engl ; 59(7): 2860-2866, 2020 02 10.
Article in English | MEDLINE | ID: mdl-31743549

ABSTRACT

A novel palladium-catalyzed Heck-type reaction of thiocarbamates has been designed to construct bridged seven-membered-ring systems that are otherwise challenging to prepare. Taking advantage of this newly developed method, enantioselective syntheses of lyconadins A-E (1-5), lycopecurine (6), and dehydrolycopecurine (7) have been realized in a divergent fashion. Our synthetic strategy also features an intramolecular cyclization of a N-chloroamine to forge the C6-N bond, a transannular Mannich-type reaction of a cyclic nitrone to stitch the C4 and C13 together, and a cyclocondensation to deliver the (dihydro-)pyridone motif.

15.
Transl Neurodegener ; 8: 19, 2019.
Article in English | MEDLINE | ID: mdl-31289639

ABSTRACT

BACKGROUND: Although many causative genes of hereditary spastic paraplegia (HSP) have been uncovered in recent years, there are still approximately 50% of HSP patients without genetically diagnosis, especially in autosomal recessive (AR) HSP patients. Rare studies have been performed to determine the genetic spectrum and clinical profiles of recessive HSP patients in the Chinese population. METHODS: In this study, we investigated 24 Chinese index AR/sporadic patients by targeted next-generation sequencing (NGS), Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA). Further functional studies were performed to identify pathogenicity of those uncertain significance variants. RESULTS: We identified 11 mutations in HSP related genes including 7 novel mutations, including two (p.V1979_L1980delinsX, p.F2343 fs) in SPG11, two (p.T55 M, p.S308 T) in AP5Z1, one (p.S242 N) in ALDH18A1, one (p.D597fs) in GBA2, and one (p.Q486X) in ATP13A2 in 8 index patients and their family members. Mutations in ALDH18A1, AP5Z1, CAPN1 and ATP13A2 genes were firstly reported in the Chinese population. Furthermore, the clinical phenotypes of the patients carrying mutations were described in detail. The mutation (p.S242 N) in ALDH18A1 decreased enzyme activity of P5CS and mutations (p.T55 M, p.S308 T) in AP5Z1 induced lysosomal dysfunction. CONCLUSION: Our results expanded the genetic spectrum and clinical profiles of AR-HSP patients and further demonstrated the efficiency and reliability of targeted NGS diagnosing suspected HSP patients.

16.
Clin Genet ; 95(5): 637-639, 2019 05.
Article in English | MEDLINE | ID: mdl-30780198

ABSTRACT

Pedigree chart of hereditary spastic paraplegia (HSP) patients and chromatogram of novel mutations. A. Pedigree chart of 12 Chinese HSP families with mutation. Squares indicate males; circles indicate females; the black symbols indicate affected individuals; arrows indicate the probands; and asterisks indicate the individual with mutation.B. Chromatogram of six novel mutations identified in our cohort. The upper panel in chromatogram depicts the reference sequence. The lower panel represents heterozygous mutated sequence.


Subject(s)
Asian People/genetics , Spastic Paraplegia, Hereditary/genetics , Adolescent , Adult , Base Sequence , Child , Child, Preschool , Cohort Studies , Female , Humans , Infant , Male , Middle Aged , Young Adult
17.
Dalton Trans ; 47(5): 1682-1692, 2018 Jan 30.
Article in English | MEDLINE | ID: mdl-29327748

ABSTRACT

Four new metal-organic frameworks (MOFs), {[Zn3(L)(OH)(H2O)5]·NMP·2H2O}n (1), {[H2N(Me)2][Zn2(L)(H2O)]·DMF·H2O}n (2), {[Co5(L)2(H2O)11]·2H2O}n (3) and {[Mn5(L)2(H2O)12]·6H2O}n (4), were assembled employing a symmetrical V-shaped rigid multicarboxylic acid ligand H5L (H5L = 2,4-di(3',5'-dicarboxylphenyl)benzoic acid) with different metal ions, resulting in versatile frameworks as well as various types of coordination modes of H5L. 1 forms a three-dimensional (3D) 4-connected sra net based on trinuclear [Zn3(µ3-OH)(µ2-COO)(µ1-COO)4] clusters, while 2 displays a 3D (4,6)-connected net based on two types of binuclear [Zn2(µ2-COO)2(µ1-COO)4] and [Zn2(µ2-COO)4] clusters. 3 and 4 contain similar [M3(µ2-COO)4(µ1-COO)2] (3, M = Co; 4, M = Mn) clusters but result in different 4-connected 3D and 2D frameworks, respectively. 1 and 2 show solid-state luminescence properties at ambient temperature. Meanwhile, 1 shows high selectivity and sensitivity for not only Fe3+ cations but also for CrO42-, Cr2O72- and MnO4- anions via a luminescence quenching effect with a low detection limit, which thus means that it could be a potential crystalline material for detecting these anions. The mechanisms of the quenching effect and sensing properties of 1 are discussed in detail. In addition, 3 and 4 have the presence of antiferromagnetic interactions between the metal ions.

18.
Dalton Trans ; 46(43): 15118-15123, 2017 Nov 07.
Article in English | MEDLINE | ID: mdl-29068021

ABSTRACT

Two new three-dimensional (3D) porous metal-organic frameworks (MOFs), {[Cd2(L)(NMP)(H2O)2]·2H2O}n (1) and {[Zn(L)0.5(H2O)]·NMP·H2O}n (2), have been solvothermally synthesized by using Zn(ii) and Cd(ii) ions with H4L (H4L = 1,4-di(5,6-bicarboxylbenzimidazol-lylmethyl)benzene) in different ratios of H2O and NMP (NMP = 1-methyl-2-pyrrolidinone) solvents, all of which have been characterized by elemental analysis, FT-IR spectroscopy, powder X-ray diffraction (PXRD), and thermogravimetric analysis (TGA). As revealed by structural analysis, the H4L ligand took different coordination fashions in 1 and 2, and as a result, two MOFs with a novel (3,4,7)-connected trinodal net and (3,6)-connected binodal net were obtained, respectively. The structure comparison reveals that the coordination modes of ligands and the types of metal ions play decisive roles in regulating the final networks of MOFs. The desolvated frameworks 1 and 2 possess polar channels decorated with uncoordinated carboxylate groups, leading to an excellent ability to attract CO2 as well as significant adsorption selectivity for CO2 over CH4 at 273 and 298 K. Solid state 1 and 2 show blue photoluminescence.

19.
Dalton Trans ; 46(30): 9784-9793, 2017 Aug 14.
Article in English | MEDLINE | ID: mdl-28692088

ABSTRACT

Six new complexes based on 5-(triazol-1-yl)nicotinic acid (HL), namely [Cu2(L)3(H2O)(OH)]n (1), [Co(L)2(H2O)2]n (2), [Mn(L)2(H2O)2]n (3), {[Co(L)(H2O)0.5(DMF)0.5(NO3)0.5]·(Cl)0.5·DMF·2H2O}n (4), {[Cu(L)(O)0.5]·CH3OH·2.5H2O}n (5) and {[Co2(L)4(H2O)]·2DMA·2H2O}n (6), were synthesized under hydro(solvo)thermal conditions. The L- ligand in 1-6 reveals various coordination modes and forms diverse secondary building units (SBUs) in the final structures. Complex 1 shows a 2D layered structure with a rare (3,8)-connected topology based on tetranuclear [Cu4(COO)6(H2O)2(OH)2N6] SBUs. 2 and 3 are isostructural and display 2D 4-connected sql nets with a point symbol of (44·62). 4 and 5 have similar spatial 3D porous frameworks, which can be simplified as a (3,6)-connected 2-nodal net via dinuclear [Co2(COO)2(O)2(NO3)(N)4] SBUs and [Cu2(COO)2(O)(N)4] SBUs, respectively. 6 is a 3D porous framework constructed by dinuclear [Co2(COO)4(H2O)(N)4] motifs with a uninodal 4-connected qtz net. The magnetic properties and gas sorption behaviour of these complexes were investigated carefully, showing that 3 exhibits ferrimagnetic character and 4 demonstrates its effective storage capacity for CO2 as well as high selectivity for CO2 over CH4 under ambient conditions.

20.
Dalton Trans ; 45(39): 15473-15480, 2016 Oct 04.
Article in English | MEDLINE | ID: mdl-27711745

ABSTRACT

By using an asymmetrical rigid pentacarboxylic acid ligand, 2,4-di(3',5'-dicarboxylphenyl)benzoic acid (H5L), four new three-dimensional (3D) metal-organic frameworks (MOFs), namely {[Cu2(HL)(H2O)2]·2DMF·2H2O}n (1), {[Co2(L)(DMA)]·H2N(Me)2}n (2), {[Co2(L)(H2O)]·H2N(Me)2}n (3), {[Mn2(L)(DMF)(H2O)]·H2N(Me)2}n (4), were solvothermally synthesized. H5L in 1-4 shows different coordination modes and can easily form various metal clusters (secondary building units, SBUs) in the final structures. 1 is a 3D porous framework with a (4,4)-connected pts topology based on the [Cu2(COO)4] paddlewheel SBU, wherein six SBUs are connected by twelve HL4- to get an unprecedented Cu12 hendecahedron nanocage. 2-4 possess similar dinuclear [M2(COO)5] SBUs (M = Co, Mn), which are further extended by L5- to give rise to 3D frameworks with the uncommon (5,5)-connected nia-5,5-P21/c and bnn topologies. In addition, the desolvated framework of 1 contains polar channels decorated with uncoordinated carboxylate groups, leading to selective adsorption for CO2 over CH4 at 195, 273 and 298 K. Moreover, the magnetic properties of 1-4 show that there exist antiferromagnetic interactions between metal ions.

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