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1.
Front Psychol ; 15: 1347561, 2024.
Article in English | MEDLINE | ID: mdl-39015331

ABSTRACT

Introduction: Athletes' mind wandering during competition has positive and negative effects. The purpose of this study was to explore the reason for these bidirectional effects. Methods: We recruited 51 athletes from China to take part in semi-structured interviews in which we explored their experiences of mind wandering in competition. We used grounded theory combined with systems thinking to complete the data analysis and theoretical construction. Results: Results showed that the influence of mind wandering on sporting performance was dynamically influenced by "mind wandering source," "competition anxiety," "content of mind wandering," "attentional resources" and "attentional control," resulting in our development of the theory of "mind wandering in sporting performance (MWSP)." The above factors determine how mind wandering occurs and how it affects the competition. Discussion: Although the occurrence of mind wandering during competition has positive effects, its negative effects cannot be ignored, which may lead to athletes losing the race (costs over benefits). Potential strategies focusing on the mitigation of negative effects and promotion of positive effects of mind wandering are discussed.

2.
Front Pediatr ; 12: 1355277, 2024.
Article in English | MEDLINE | ID: mdl-38859980

ABSTRACT

Background: Cardio-Facio-Cutaneous syndrome (CFCS) is a rare autosomal dominant genetic disorder primarily caused by BRAF gene mutations, posing diagnostic challenges due to its multifaceted clinical presentation. Objective: To elucidate the clinical characteristics of pediatric CFCS patients, expanding the phenotypic spectrum to enhance early diagnostic capabilities, while also presenting the relationship between genotye and corresponding phenotype severity. Methods: From January 2015 to March 2022, four children diagnosed with CFCS in Children's Hospital of Chongqing Medical University were included for analysis. Whole exome sequencing (WES) was conducted to identify the types and locations of possible gene mutations. Neurological development was assessed using electroencephalography (EEG), magnetic resonance imaging (MRI) and Gesell developmental evaluation. Results: All four CFCS patients exhibited de novo BRAF gene mutations, manifesting with cardiac malformations, distinctive facial features, skin and hair changes, and neurological abnormalities. WES revealed that the specific BRAF mutations were closely linked to their clinical severity. Three patients displayed milder symptoms (case 1-3, genotype I or II), demonstrating stability or slight improvement, whereas one patient (case 4, genotype III) suffered from a severe phenotype characterized by profound neurological and digestive system impairments, leading to a significantly reduced quality of life and a grim prognosis. Conclusion: In CFCS patients, severe developmental delay and seizures are predominant neurological features, possibly accompanied by continuous spike-and-wave during sleep (CSWS) and severe sleep disturbances. CFCS generally carries a poor prognosis, underscoring the importance of disease awareness and early genetic testing.

3.
Pediatr Infect Dis J ; 43(7): 626-629, 2024 Jul 01.
Article in English | MEDLINE | ID: mdl-38535510

ABSTRACT

OBJECTIVE: The objective of this study was to investigate the clinical and laboratory features of acute benign myositis associated with influenza A virus infection in children. METHODS: A retrospective analysis was performed on the clinical data of 118 children with acute benign myositis associated with influenza A virus infection who were admitted to the Children's Hospital of Chongqing Medical University during the epidemic period of influenza A from February 2023 to May 2023. RESULTS: (1) Most of the 118 children were preschool- or school-age. The most common symptom was sudden lower limb pain after fever, and bilateral calf myalgia was more common. The muscle enzyme spectrum ranged from 187.21 to 32191.00 µg/L (median: 3053 µg/L). Creatine kinase isoenzymes ranged from 5.15 to 749.7 µg/L (median 41.82 µg/L). Myoglobin ranged from 102.79 to 1200 µg/L (median 674.9 µg/L). (3) Examination: electromyography, muscle color Doppler ultrasound, radiograph and cardiac color Doppler ultrasound in Benign acute childhood myositis in children were rarely positive. (4) Treatment and prognosis: besides bed rest and a reduction of physical activity, oseltamivir treatment, drugs to improve energy metabolism, fluid replacement and alkalinization of symptomatic treatment. All children had a good prognosis without sequelae. CONCLUSIONS: This study summarized and analyzed the clinical characteristics of acute benign myositis associated with influenza A infection in children with the aim of allowing rapid and early diagnosis of the disease and reducing unnecessary diagnostic tests and treatments. Closely monitoring myalgia and the muscle enzyme spectrum is recommended to exclude other neuromuscular and metabolic diseases.


Subject(s)
Influenza A virus , Influenza, Human , Myositis , Humans , Influenza, Human/complications , Retrospective Studies , Myositis/virology , Myositis/complications , Male , Child, Preschool , Female , Child , Adolescent , Infant , China/epidemiology , Prognosis , Creatine Kinase/blood
4.
Front Psychol ; 15: 1232312, 2024.
Article in English | MEDLINE | ID: mdl-38414876

ABSTRACT

Objective: Mind wandering is a common phenomenon among athletes during training and competition, and can lead to poor performance. We attempt to clarify which personality type is more prone to mind wandering and the role of trait anxiety between them. Methods: Six hundred and eighty-one athletes participated in this cross sectional study. Participants completed the Athlete Mind Wandering Scale, The Chinese adjectives scale of Big-Five factor personality short scale version and Pre-Competition Emotion Scale-Trait questionnaires. The survey data was tested for common method biases, Pearson correlation analysis, and structural equation model by SPSS 25.0 and Mplus 7.0. Results: Common method biases can be accepted in this study. (1) Athletes' neuroticism was significantly and positively correlated with trait anxiety and mind wandering, respectively, athletes' extraversion, agreeableness, conscientiousness, and openness were significantly and negatively correlated with trait anxiety and mind wandering respectively; the athletes' trait anxiety was significantly and positively correlated with mind wandering; (2) By constructing mediating models, the direct effects of athletes' extraversion, agreeableness, conscientiousness, neuroticism, and openness on mind wandering were insignificant. The mediating effect of athletes' trait anxiety between the five personalities and mind wandering was significant. Conclusion: Trait anxiety in athletes plays a fully mediating role between the relationship of personality and mind wandering. Athletes' extraversion, agreeableness, conscientiousness, neuroticism, and openness can all have an impact on mind wandering through the mediating role of trait anxiety. Athletes can use the mediating role of trait anxiety to intervene the frequency of mind wandering.

5.
Trials ; 25(1): 47, 2024 Jan 13.
Article in English | MEDLINE | ID: mdl-38218944

ABSTRACT

BACKGROUND: Patients with hematological malignancies received multiple hypodermic injections of recombinant human granulocyte colony-stimulating factor. Procedural pain is one of the most common iatrogenic causes of pain in patients with hematological malignancies. It is also identified as the most commonly occurring problem in clinical care in the Department of Hematology and Oncology at Shenzhen University General Hospital. However, providing immediate relief from pain induced by hypodermic injection of recombinant human granulocyte colony-stimulating factor remains a major challenge. This trial aims to evaluate the safety and analgesic efficacy of a fixed nitrous oxide/oxygen mixture for patients with hematological malignancies and experiencing procedural pain caused by hypodermic injection of recombinant human granulocyte colony-stimulating factor in the department. METHODS: The nitrous oxide/oxygen study is a single-center, randomized, double-blind, placebo-controlled trial involving patients with hematological malignancies who require hypodermic injections of recombinant human granulocyte colony-stimulating factor for treatment. This trial was conducted in the Hematology and Oncology Department of Shenzhen University General Hospital. A total of 54 eligible patients were randomly allocated to either the fixed nitrous oxide/oxygen mixture group (n = 36) or the oxygen group (n = 18). Neither the investigators nor the patients known about the randomization list and the nature of the gas mixture in each cylinder. Outcomes were monitored at the baseline (T0), immediately after hypodermic injection of recombinant human granulocyte colony-stimulating factor (T1), and 5 min after hypodermic injection of recombinant human granulocyte colony-stimulating factor (T2) for each group. The primary outcome measure was the score in the numerical rating scale corresponding to the highest level of pain experienced during hypodermic injection of recombinant human granulocyte colony-stimulating factor. Secondary outcomes included the fear of pain, anxiety score, four physiological parameters, adverse effects, total time of gas administration, satisfaction from both patients and nurses, and the acceptance of the patients. DISCUSSION: This study focused on the safety and analgesic efficacy during hypodermic injection of recombinant human granulocyte colony-stimulating factor procedure. Data on the feasibility and safety of nitrous oxide/oxygen therapy was provided if proven beneficial to patients with hematological malignancies during hypodermic injection of recombinant human granulocyte colony-stimulating factor and widely administered to patients with procedural pain in the department. TRIAL REGISTRATION: Chinese Clinical Trial Register, ChiCTR2200061507. Registered on June 27, 2022. http://www.chictr.org.cn/edit.aspx?pid=170573&htm=4.


Subject(s)
Hematologic Neoplasms , Pain, Procedural , Humans , Nitrous Oxide/adverse effects , Oxygen/therapeutic use , Pain Management/methods , Treatment Outcome , Pain/diagnosis , Pain/drug therapy , Pain/etiology , Analgesics/therapeutic use , Double-Blind Method , Hematologic Neoplasms/complications , Granulocyte Colony-Stimulating Factor/adverse effects , Randomized Controlled Trials as Topic
6.
Adv Healthc Mater ; 13(4): e2302180, 2024 Feb.
Article in English | MEDLINE | ID: mdl-37985965

ABSTRACT

The nature of the hydrogel scaffold mimicking extracellular matrix plays a crucial role in tissue engineering like skeletal muscle repair. Herein, an anisotropic and conductive hydrogel scaffold is fabricated using gelatin methacryloyl (GelMA) as the matrix hydrogel and silver nanowire (AgNW) as the conductive dopant, through a directional freezing technique for muscle defect repair. The scaffold has an anisotropic structure composed of a directional longitudinal section and a honeycomb cross-section, with high mechanical strength of 10.5 kPa and excellent conductivity of 0.26 S m-1 . These properties are similar to native muscle extracellular matrix (ECM) and allow for cell orientation under the guidance of contact cues and electrical stimulation synergistically. In vitro experiments show that the scaffold's oriented structure combined with electrical stimulation results in enhanced myotube formation, with a length of up to 863 µm and an orientation rate of 81%. Furthermore, the electrically stimulated scaffold displays a promoted muscle reconstruction ability when transplanted into rats with muscle defects, achieving a muscle mass and strength restoration ratio of 95% and 99%, respectively, compared to normal levels. These findings suggest that the scaffold has great potential in muscle repair applications.


Subject(s)
Hydrogels , Nanowires , Rats , Animals , Hydrogels/chemistry , Anisotropy , Biomimetics , Silver , Muscle, Skeletal , Tissue Engineering/methods , Electric Stimulation , Tissue Scaffolds/chemistry , Gelatin/chemistry
7.
Macromol Biosci ; 23(12): e2300171, 2023 Dec.
Article in English | MEDLINE | ID: mdl-37466295

ABSTRACT

The unique optical and electronic properties of living systems are impressive. Peptide-based supramolecular self-assembly systems attempt to mimic these properties by preparation optical/electronic function materials with specific structure through simple building blocks, rational molecular design, and specific kinetic stimulation. From the perspective of building blocks and assembly strategies, the unique optical and electronic properties of peptide-based nanostructures, including peptides self-assembly and peptides regulate the assembly of external function subunits, are systematically reviewed. Additionally, their applications in biomedicine, sensing, and energy storage are also highlighted. This bioinspired peptide-based function material is one of the hot candidates for the new generation of green intellect materials, with many advantages such as biocompatibility, environmental friendliness, and adjustable morphology.


Subject(s)
Nanostructures , Nanostructures/chemistry , Peptides/chemistry , Kinetics
8.
Nanoscale Adv ; 5(13): 3527-3535, 2023 Jun 27.
Article in English | MEDLINE | ID: mdl-37383071

ABSTRACT

Coordination polymers (CPs) have emerged as promising candidates for photocatalytic H2 production owing to their structural tailorability and functional diversity. However, the development of CPs with high energy transfer efficiency for highly efficient photocatalytic H2 production in a wide pH range still faces many challenges. Here we constructed a novel tube-like Pd(ii) coordination polymer with well-distributed Pd nanoparticles (denoted as Pd/Pd(ii)CPs) based on the coordination assembly of rhodamine 6G and Pd(ii) ions and further photo-reduction under visible light irradiation. Both the Br- ion and double solvent play a key role in forming the hollow superstructures. The resulting tube-like Pd/Pd(ii)CPs exhibit high stability in aqueous solution with the pH range from 3 to 14 due to the high Gibbs free energies of protonation and deprotonation, which provides the feasibility of photocatalytic hydrogen generation in a wide pH range. Electromagnetic field calculations showed that the tube-like Pd/Pd(ii)CPs have a good confinement effect on light. Therefore, the H2 evolution rate could reach 112.3 mmol h-1 g-1 at pH 13 under visible light irradiation, which is far superior to those of reported coordination polymer-based photocatalysts. Moreover, such Pd/Pd(ii)CPs could also reach a H2 production rate of 37.8 mmol h-1 g-1 in seawater under visible light with low optical density (40 mW cm-2) close to morning or cloudy sunlight. The above unique characteristics make the Pd/Pd(ii)CPs possess great potential for practical applications.

9.
BMC Pediatr ; 23(1): 255, 2023 05 23.
Article in English | MEDLINE | ID: mdl-37217894

ABSTRACT

OBJECTIVE: Treatment with adrenocorticotropic hormone (ACTH) or a corticosteroid is the first choice for infantile spasms (IS), and vigabatrin is the first choice for children with tuberous sclerosis. Although corticosteroids may be also effective against IS and IS-related Lennox-Gastaut syndrome (LGS), the use of dexamethasone (DEX), a kind of corticosteroid, for these diseases has been rarely reported. This retrospective study aimed to evaluate the efficacy and tolerability of DEX for the treatment of IS and IS-related LGS. METHODS: Patients diagnosed as having IS (including patients whose condition evolved to LGS after the failure of early treatment) in our hospital between May 2009 and June 2019 were treated with dexamethasone after failure of prednisone treatment. The oral dose of DEX was 0.15-0.3 mg/kg/d. Thereafter, the clinical efficacy, electroencephalogram (EEG) findings, and adverse effects were observed every 4-12 weeks depending on the individual patient's response. Then, the efficacy and safety of DEX in the treatment of IS and IS-related LGS were retrospectively evaluated. RESULTS: Among 51 patients (35 cases of IS; 16 cases of IS-related LGS), 35 cases (68.63%) were identified as responders to DEX treatment, comprising 20 cases (39.22%) and 15 cases (29.41%) with complete control and obvious control, respectively. To discuss the syndromes individually, complete control and obvious control were achieved in 14/35 and 9/35 IS cases and in 6/16 and 6/16 IS-related LGS cases, respectively. During DEX withdrawal, 11 of the 20 patients with complete control relapsed (9/14 IS; 2/6 LGS). The duration of dexamethasone treatment (including weaning) in most of the 35 responders was less than 1 year. However, 5 patients were treated with prolonged, low-dose maintenance therapy, which continued for more than 1.5 years. These 5 patients showed complete control, and 3 patients had no recurrence. Except for one child who died of recurrent asthma and epileptic status 3 months after stopping DEX, there were no serious or life-threatening adverse effects during DEX treatment. CONCLUSION: Oral DEX is effective and tolerable for IS and IS-related LGS. all LGS patients were evolved from IS in this study. The conclusion may not apply to patients with other etiology and courses of LGS. Even when prednisone or ACTH is failed, DEX may still be considered as a treatment option. For children who respond to DEX but do not show complete control after 6 months of treatment, prolonged treatment with low-dose DEX administered in the morning might be considered.


Subject(s)
Lennox Gastaut Syndrome , Spasms, Infantile , Child , Humans , Spasms, Infantile/drug therapy , Spasms, Infantile/diagnosis , Lennox Gastaut Syndrome/drug therapy , Lennox Gastaut Syndrome/diagnosis , Retrospective Studies , Prednisone/therapeutic use , Adrenocorticotropic Hormone/therapeutic use , Adrenal Cortex Hormones/therapeutic use , Electroencephalography , Dexamethasone/adverse effects , Anticonvulsants/therapeutic use
10.
J Colloid Interface Sci ; 639: 1-6, 2023 Jun.
Article in English | MEDLINE | ID: mdl-36796110

ABSTRACT

Short peptide self-assembled hydrogels as 3D bioprinting inks show excellent biocompatibility and diverse functional expansion, and have broad application prospects in cell culture and tissue engineering. However, the preparation of biological hydrogel inks with adjustable mechanical strength and controllable degradation for 3D bioprinting still faces big challenges. Herein, we develop dipeptide bio-inks that can be gelled in-situ based on Hofmeister sequence, and prepare hydrogel scaffold by using a layer-by-layer 3D printing strategy. Excitingly, after the introduction of Dulbecco's Modified Eagle's medium (DMEM), which is necessary for cell culture, the hydrogel scaffolds show an excellent toughening effect, which matches the needs of cell culture. It's notable that in the whole process of preparation and 3D printing of hydrogel scaffolds, no cross-linking agent, ultraviolet (UV), heating or other exogenous factors are involved, ensuring high biosafety and biocompatibility. After two weeks of 3D culture, millimeter-sized cell spheres are obtained. This work provides an opportunity for the development of short peptide hydrogel bioinks without exogenous factors in 3D printing, tissue engineering, tumor simulant reconstruction and other biomedical fields.


Subject(s)
Bioprinting , Tissue Scaffolds , Dipeptides , Hydrogels , Bioprinting/methods , Tissue Engineering/methods , Peptides , Printing, Three-Dimensional
11.
ACS Appl Mater Interfaces ; 15(1): 2486-2497, 2023 Jan 11.
Article in English | MEDLINE | ID: mdl-36580635

ABSTRACT

The self-assembling behavior of peptides and derivatives is crucial in the natural process to construct various architectures and achieve specific functions. However, the surface or interfacial self-assembly, in particular, on the surface of micro- or nanoparticles is even less systematically investigated. Here, uniform porous CaCO3 microparticles were prepared with different charged, hydrophobic and hydrophilic surfaces to assess the self-assembling behavior of dipeptides composed of various sequences. Experimental results indicate that dipeptides with a negative charge in an aqueous solution preferred to self-assemble on the hydrophobic and positively charged surface of CaCO3 particles, which can be ascribed to the electrostatic and hydrophobic interaction between dipeptides and CaCO3 particles. Meanwhile, the Log p (lipid-water partition coefficient) of dipeptides has a significant effect on the self-assembling behavior of dipeptides on the surface of porous CaCO3; dipeptides with high Log p preferred to self-assemble on the surface of CaCO3 particles, resulting in the improved cell internalization efficiency of particles with low cytotoxicity. After loading with a model drug (doxorubicin), the particles show obvious antitumor activity in animal experiments and can reduce Dox side effects effectively.


Subject(s)
Dipeptides , Nanoparticles , Animals , Porosity , Peptides , Doxorubicin/pharmacology , Doxorubicin/chemistry , Nanoparticles/chemistry , Water
12.
Front Plant Sci ; 13: 1018616, 2022.
Article in English | MEDLINE | ID: mdl-36325552

ABSTRACT

Rice blast caused by Magnaporthe oryzae is one of the most important diseases of rice. Elicitors secreted by M. oryzae play important roles in the interaction with rice to facilitate fungal infection and disease development. In recent years, several elicitor proteins have been identified in M. oryzae, and their functions and importance are increasingly appreciated. In this study, we purified a novel elicitor-activity protein from M. oryzae, which was further identified as a vanadium chloroperoxidase (MoVcpo) by MAIDL TOF/TOF MS. The purified MoVcpo induced reactive oxygen species (ROS) accumulation in host cells, up-regulated the expression of multiple defense-related genes, thus significantly enhancing rice resistance against M. oryzae. These results suggested that MoVcpo functions as a pathogen-associated molecular pattern (PAMP) to trigger rice immunity. Furthermore, MoVcpo was highly expressed in the early stage of M. oryzae infection. Deletion of MoVcpo affected spore formation, conidia germination, cell wall integrity, and sensitivity to osmotic stress, but not fungal growth. Interestingly, compared with the wild-type, inoculation with MoVcpo deletion mutant on rice led to markedly induced ROS accumulation, increased expression of defense-related genes, but also lower disease severity, suggesting that MoVcpo acts as both an elicitor activating plant immune responses and a virulence factor facilitating fungal infection. These findings reveal a novel role for vanadium chloroperoxidase in fungal pathogenesis and deepen our understanding of M. oryzae-rice interactions.

13.
Acta Biomater ; 154: 135-144, 2022 Dec.
Article in English | MEDLINE | ID: mdl-36216126

ABSTRACT

Bio-endogenous peptide molecules are ideal components for fabrication of biocompatible and environmentally friendly semiconductors materials. However, to date, their applications have been limited due to the difficulty in obtaining stable, high-performance devices. Herein, simple amino acid derivatives fluorenylmethoxycarbonyl-leucine (Fmoc-L) and fluorenylmethoxycarbonyl-tryptophan (Fmoc-W) are utilized to form long-range ordered supramolecular nanostructures by tight aromatic stacking and extensive hydrogen bonding with mechanical, electrical and optical properties. For the first time, without addition of any photosensitizers, pure Fmoc-L microbelts and Fmoc-W microwires exhibit Young's modulus up to 28.79 and 26.96 GPa, and unprecedently high values of photocurrent responses up to 2.2 and 2.3 µA/cm2, respectively. Meanwhile, Fmoc-W microwires with stable blue fluorescent emission under continuous excitation are successfully used as LED phosphors. Mechanism analysis shows that these two amino acids derivatives firstly formed dimers to reduce the bandgap, then further assemble into bioinspired semiconductor materials using the dimers as the building blocks. In this process, aromatic residues of amino acids are more conducive to the formation of semiconducting characteristics than fluorenyl groups. STATEMENT OF SIGNIFICANCE: Long-range ordered amino acid derivative assemblies with mechanical, electrical and optical properties were fabricated by a green and facile biomimetic strategy. These amino acid assemblies have Young's modulus comparable to that of concrete and exhibit typical semiconducting characteristics. Even without the addition of any photosensitizer, pure amino acid assemblies can still produce a strong photocurrent response and an unusually stable photoluminescence. The results suggest that amino acid structures with hydrophilic C-terminal and aromatic residues are more conducive to the formation of semiconducting characteristics. This work unlocks the potential for amino acid molecules to self-assemble into high-performance bioinspired semiconductors, providing a reference for customized development of biocompatible and environmentally friendly semiconductor materials through rational molecular design.


Subject(s)
Amino Acids , Nanostructures , Amino Acids/chemistry , Fluorenes/chemistry , Nanostructures/chemistry , Hydrogen Bonding , Peptides/chemistry
14.
Front Microbiol ; 13: 1001540, 2022.
Article in English | MEDLINE | ID: mdl-36110302

ABSTRACT

Fusarium oxysporum f. sp. cubense tropical race 4 (Foc TR4) is an important soilborne fungal pathogen that causes the most devastating banana disease. Effectors secreted by microbes contribute to pathogen virulence on host plants in plant-microbe interactions. However, functions of Foc TR4 effectors remain largely unexplored. In this study, we characterized a novel cupin_1 domain-containing protein (FoCupin1) from Foc TR4. Sequence analysis indicated that the homologous proteins of FoCupin1 in phytopathogenic fungi were evolutionarily conserved. Furthermore, FoCupin1 could suppress BAX-mediated cell death and significantly downregulate the expression of defense-related genes in tobacco by using the Agrobacterium-mediated transient expression system. FoCupin1 was highly induced in the early stage of Foc TR4 infection. The deletion of FoCupin1 gene did not affect Foc TR4 growth and conidiation. However, FoCupin1 deletion significantly reduced Foc TR4 virulence on banana plants, which was further confirmed by biomass assay. The expression of the defense-related genes in banana was significantly induced after inoculation with FoCupin1 mutants. These results collectively indicate FoCupin1 is a putative effector protein that plays an essential role in Foc TR4 pathogenicity. These findings suggest a novel role for cupin_1 domain-containing proteins and deepen our understanding of effector-mediated Foc TR4 pathogenesis.

15.
Front Neurol ; 13: 889167, 2022.
Article in English | MEDLINE | ID: mdl-36158964

ABSTRACT

Introduction: Developmental and epileptic encephalopathy 91 (DEE91; OMIM#617711) is a severe neurodevelopmental disorder caused by heterozygous PPP3CA variants. To the best of our knowledge, only a few DEE91 cases have been reported. Results: This study reports a boy who experienced recurrent afebrile convulsions and spasms at the age of 2 months. After being given multiple antiepileptic treatments with levetiracetam, adrenocorticotropic hormone (ACTH), prednisone, topiramate, and clonazepam, his seizures were not completely relieved. At the age of 4 months, the patient exhibited delayed neuromotor development and difficulty in feeding; at the age of 6 months, he was diagnosed with developmental regression with recurrent spasms and myoclonic seizures that could respond to vigabatrin. At the age of 1 year and 4 months, the patient showed profound global developmental delay (GDD) with intermittent absence seizures. Whole-exome sequencing (WES) identified a novel loss-of-function variant c.1258_1259insAGTG (p. Val420Glufs*32) in PPP3CA. Conclusion: This finding expands the genetic spectrum of the PPP3CA gene and reinforces the theory that DEE91-associated truncating variants cluster within a 26-amino acid region in the regulatory domain (RD) of PPP3CA.

16.
Gels ; 8(6)2022 Jun 13.
Article in English | MEDLINE | ID: mdl-35735716

ABSTRACT

The functionalization of self-assembled peptide hydrogel is of great importance to broaden its applications in the field of biomedicine. In this work, conductive hydrogel is fabricated by introducing conductive polymer polyaniline into peptide self-assembled hydrogel. Compared with pure peptide formed hydrogel, the conductive hydrogel exhibits enhanced conductivity, mechanical property and stability. In addition, the hydrogel is tested to be of great injectability and 3D bio-printability and could support the viability of encapsulated cells that are sensitive to electrical signals. It should have great application prospects in the preparation of tissue engineering scaffolds.

17.
Biomed Res Int ; 2022: 3758731, 2022.
Article in English | MEDLINE | ID: mdl-35496042

ABSTRACT

Esophageal squamous cell carcinoma (ESCC) has a high incidence and low survival rate, necessitating the identification of novel specific biomarkers. Centromere-associated proteins (CENPs) have been reported to be biomarkers for many cancers, but their roles in ESCC have seldom been investigated. Here, the potential clinical roles of CENPs in ESCC patients were demonstrated by a systematic bioinformatics analysis. Most CENP-encoding genes were differentially expressed between tumor and normal tissues. CENPA, CENPE, CENPF, CENPI, CENPM, CENPN, CENPQ, and CENPR were upregulated universally in the three datasets. Survival analysis demonstrated that high expression of CENPE and CENPQ was positively correlated with the outcomes of ESCC patients. The CENPE-based forecast model was more accurate than the tumor-node-metastasis (TNM) staging-based model, which was classified as stage I/II vs. III/IV. More importantly, the forecast model based on the commonly upregulated CENPs exhibited a much higher area under the curve (AUC) value (0.855) than the currently known TTL, ZNF750, AC016205.1, and BOLA3 biomarkers. The nomogram model integrating the CENPs, TNM stage, and sex was highly accurate in the prognosis of ESCC patients (AUC = 0.906). Besides, gene set enrichment analysis (GSEA) demonstrated that CENPE expression is significantly correlated with cell cycle, G2/M checkpoint, mitotic spindle, p53, etc. Finally, in validation experiments, we also found that CENPE and CENPQ were significantly overexpressed in esophageal cancer cells. Taken together, these results clearly suggest that CENPs are clinically promising diagnostic and prognostic biomarkers for ESCC patients.


Subject(s)
Esophageal Neoplasms , Esophageal Squamous Cell Carcinoma , Biomarkers, Tumor/genetics , Biomarkers, Tumor/metabolism , Centromere , Esophageal Neoplasms/diagnosis , Esophageal Neoplasms/genetics , Esophageal Neoplasms/metabolism , Esophageal Squamous Cell Carcinoma/diagnosis , Esophageal Squamous Cell Carcinoma/genetics , Esophageal Squamous Cell Carcinoma/metabolism , Humans , Mitochondrial Proteins/metabolism , Prognosis , Transcription Factors/genetics , Tumor Suppressor Proteins/genetics , Up-Regulation/genetics
18.
Int J Mol Sci ; 22(20)2021 Oct 09.
Article in English | MEDLINE | ID: mdl-34681563

ABSTRACT

Assessing dementia conversion in patients with mild cognitive impairment (MCI) remains challenging owing to pathological heterogeneity. While many MCI patients ultimately proceed to Alzheimer's disease (AD), a subset of patients remain stable for various times. Our aim was to characterize the plasma metabolites of nineteen MCI patients proceeding to AD (P-MCI) and twenty-nine stable MCI (S-MCI) patients by untargeted metabolomics profiling. Alterations in the plasma metabolites between the P-MCI and S-MCI groups, as well as between the P-MCI and AD groups, were compared over the observation period. With the help of machine learning-based stratification, a 20-metabolite signature panel was identified that was associated with the presence and progression of AD. Furthermore, when the metabolic signature panel was used for classification of the three patient groups, this gave an accuracy of 73.5% using the panel. Moreover, when specifically classifying the P-MCI and S-MCI subjects, a fivefold cross-validation accuracy of 80.3% was obtained using the random forest model. Importantly, indole-3-propionic acid, a bacteria-generated metabolite from tryptophan, was identified as a predictor of AD progression, suggesting a role for gut microbiota in AD pathophysiology. Our study establishes a metabolite panel to assist in the stratification of MCI patients and to predict conversion to AD.


Subject(s)
Alzheimer Disease/blood , Cognitive Dysfunction/complications , Metabolomics/methods , Propionates/blood , Aged , Aged, 80 and over , Alzheimer Disease/etiology , Biomarkers/blood , Cognitive Dysfunction/blood , Disease Progression , Female , Humans , Machine Learning , Male , Middle Aged
19.
Biomolecules ; 11(9)2021 09 12.
Article in English | MEDLINE | ID: mdl-34572566

ABSTRACT

Banana Fusarium wilt, caused by the fungus pathogen Fusarium oxysporum f. sp. cubense (Foc), is a devastating disease that causes tremendous reductions in banana yield worldwide. Secreted proteins can act as pathogenicity factors and play important roles in the Foc-banana interactions. In this study, a shotgun-based proteomic approach was employed to characterize and compare the secretomes of Foc1 and Foc4 upon banana extract treatment, which detected 1183 Foc1 and 2450 Foc4 proteins. Comprehensive in silico analyses further identified 447 Foc1 and 433 Foc4 proteins in the classical and non-classical secretion pathways, while the remaining proteins might be secreted through currently unknown mechanisms. Further analyses showed that the secretomes of Foc1 and Foc4 are similar in their overall functional characteristics and share largely conserved repertoires of CAZymes and effectors. However, we also identified a number of potentially important pathogenicity factors that are differentially present in Foc1 and Foc4, which may contribute to their different pathogenicity against banana hosts. Furthermore, our quantitative PCR analysis revealed that genes encoding secreted pathogenicity factors differ significantly between Foc1 and Foc4 in their expression regulation in response to banana extract treatment. To our knowledge, this is the first experimental secretome analysis that focused on the pathogenicity mechanism in different Foc races. The results of this study provide useful resources for further exploration of the complicated pathogenicity mechanisms in Foc.


Subject(s)
Fungal Proteins/metabolism , Fusarium/pathogenicity , Cell Wall/metabolism , Computer Simulation , Fungal Proteins/genetics , Fusarium/enzymology , Fusarium/genetics , Gene Expression Regulation, Fungal , Gene Ontology , Molecular Sequence Annotation , Proteomics
20.
Int J Biol Sci ; 17(8): 1925-1939, 2021.
Article in English | MEDLINE | ID: mdl-34131396

ABSTRACT

Background: Angiotensin-converting enzyme 2 (ACE2) and transmembrane serine protease 2 (TMPRSS2) allow entry of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) into host cells and play essential roles in cancer therapy. However, the functions of ACE2 and TMPRSS2 in kidney cancer remain unclear, especially as kidneys are targets for SARS-CoV-2 infection. Methods: UCSC Xena project, the Cancer Genome Atlas (TCGA), and Gene Expression Omnibus (GEO) databases (GSE30589 and GSE59185) were searched for gene expression in human tissues, gene expression data, and clinical information. Several bioinformatics methods were utilized to analyze the correlation between ACE2 and TMPRSS2 with respect to the prognosis of kidney renal clear cell carcinoma (KIRC) and kidney renal papillary cell carcinoma (KIRP). Results: ACE2 expression was significantly upregulated in tumor tissue, while its downregulation was associated with low survival in KIRC and KIRP patients. TMPRSS2 was downregulated in KIRC and KIRP, and its expression was not correlated with patient survival. According to clinical risk factor-based prediction models, ACE2 exhibits predictive accuracy for kidney cancer prognosis and is correlated with metabolism and immune infiltration. In an animal model, ACE2 expression was remarkably downregulated in SARS-CoV-2-infected cells compared to in the control. Conclusion: ACE2 expression is highly correlated with various metabolic pathways and is involved in immune infiltration.it plays a crucial role than TMPRSS2 in diagnosing and prognosis of kidney cancer patients. The overlap in ACE2 expression between kidney cancer and SARS-CoV-2 infection suggests that patients with KIRC or KIRP are at high risk of developing serious symptoms.


Subject(s)
Angiotensin-Converting Enzyme 2/biosynthesis , COVID-19/complications , Carcinoma, Renal Cell/complications , Kidney Neoplasms/complications , Receptors, Virus/biosynthesis , SARS-CoV-2 , Adult , Aged , Angiotensin-Converting Enzyme 2/genetics , Angiotensin-Converting Enzyme 2/physiology , Animals , Carcinoma, Renal Cell/immunology , Carcinoma, Renal Cell/metabolism , Carcinoma, Renal Cell/mortality , Chlorocebus aethiops , Down-Regulation , Drug Resistance, Neoplasm , Female , Gene Expression Regulation, Neoplastic , Gene Regulatory Networks , Humans , Kaplan-Meier Estimate , Kidney Neoplasms/immunology , Kidney Neoplasms/metabolism , Kidney Neoplasms/mortality , Lymphocytes, Tumor-Infiltrating/immunology , Male , Middle Aged , Models, Animal , Neoplasm Proteins/biosynthesis , Neoplasm Proteins/genetics , Organ Specificity , Prognosis , Proportional Hazards Models , Receptors, Virus/genetics , Renin-Angiotensin System/physiology , Serine Endopeptidases/biosynthesis , Serine Endopeptidases/genetics , Serine Endopeptidases/physiology , Tissue Array Analysis , Vero Cells
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