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1.
Environ Sci Pollut Res Int ; 31(6): 9582-9595, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38194173

RESUMO

Previous researches seldom studied the selection of buffer distance between geological hazards (positive samples) and non-geological hazards (negative samples), and its reasonable selection plays a very important role in improving the accuracy of susceptibility zoning, protecting the environment and reducing the cost of hazard management. Based on GIS technology and random forest (RF) and frequency-ratio random forest (FR-RF) models, this study innovatively explored the influence of randomly selected non-geological hazard samples outside different buffer distances on the susceptibility evaluation results, with buffer distances of 100 m, 500 m, 1000 m and 2000 m in sequence. The results show that through the confusion matrix and ROC curve test, the accuracy of the model increases first and then decreases with the increase of buffer distance. Both RF and FR-RF models have the highest accuracy when the buffer distance is 1000 m, and the accuracy of the RF model is generally higher than that of the FR-RF model under the same buffer distance. Similar attribute values of positive samples and randomly selected negative samples or "extreme" attribute values of negative samples are the main reasons for the differences in evaluation results of different buffer distances. According to the weight analysis of causative factors, the distance from road, the distance from river and the normalized vegetation index (NDVI) are the main factors affecting the occurrence of hazards. The high and very high susceptibility areas in the study area are mainly distributed on both sides of roads and water systems, which are the key areas for hazard prevention and reduction. The HMC of RF-1000m decreased by 3.55% on average compared with other models. The results of this study improve the accuracy of geological hazard susceptibility assessment, maintain the safety of ecological environment, and provide a scientific basis for the selection of buffer distance index in local and surrounding areas in the future.


Assuntos
Geologia , Rios
2.
Clin Exp Rheumatol ; 42(3): 702-712, 2024 03.
Artigo em Inglês | MEDLINE | ID: mdl-37976115

RESUMO

OBJECTIVES: Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease. Its diagnosis poses significant challenges especially at early stages and in atypical cases. The aim of this study was to develop a machine learning model based on common laboratory tests that can aid SLE diagnosis. METHODS: A standard protocol was developed to collect data of SLE and control immune diseases. A 10-fold cross-validation was performed in the modeling dataset (n=862), and an external dataset (n=198) was used for model validation. Machine learning algorithms were applied to construct a diagnostic model. Performance was evaluated based on area under the curve (AUC) values, F1-score, negative predictive value, positive predictive value, accuracy, sensitivity, and specificity. RESULTS: The optimal model was based on a random forest algorithm with 10 clinical features. Thrombin time, prothrombin activity, and uric acid contributed most to the diagnostic model. The SLE diagnostic model showed sufficient predictive accuracy, with AUC values of 0.8286 in the validation dataset. CONCLUSIONS: Our diagnostic model based on 10 common laboratory tests identified the patients with SLE with high accuracy. An online version of the model can potentially be applied in clinical settings for the differential diagnosis of SLE.


Assuntos
Sistemas de Informação em Laboratório Clínico , Lúpus Eritematoso Sistêmico , Humanos , Registros Eletrônicos de Saúde , Lúpus Eritematoso Sistêmico/diagnóstico , Algoritmos , Aprendizado de Máquina
3.
Front Med (Lausanne) ; 10: 1301760, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38148910

RESUMO

Objectives: Hereditary elliptocytosis is a group of erythroid hereditary diseases characterized by elliptically shaped erythrocytes in peripheral blood. It is mainly inherited through autosomal dominant inheritance. This study aimed to conduct a genetic etiology analysis in a case with a clinical diagnosis of hereditary elliptocytosis and an unexpectedly low HbA1c. Methods: Whole-exome sequencing was performed to find the possible pathogenic mutations. At the same time, bioinformatics software was used to predict the mutation function. Sanger sequencing was performed to verify the suspected pathogenic mutations. Results: Whole-exome sequencing results showed that the proband with mild anemia had a heterozygous c.2303G>A (p.G768D) missense mutation in the 13th exon of the SPTB gene. The Sanger sequencing confirmed this heterozygous mutation. This mutation was extremely rare in the population, and multiple software's predictions were harmful. Conservative analysis revealed that this site was highly conserved in various species. Conclusion: The c.2303G>A mutation of the SPTB gene is the suspected cause of hereditary elliptocytosis in the patient. Our data show that microscopic examination of red blood cells on blood smears is an important means of diagnosing hereditary elliptocytosis. Whole-exome sequencing is an effective tool to determine the genetic etiology of erythrocyte membrane diseases, which can promote accurate diagnosis and genetic counseling.

4.
Biomed Pharmacother ; 161: 114478, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37002574

RESUMO

Methamphetamine (METH) is one of the psychostimulants most widely abused in the world. METH abuse can lead to severe neurotoxicity. The blood-brain barrier (BBB) is a natural barrier separating the central nervous system (CNS) from the peripheral blood circulation, which can limit or regulate the exchange of toxic substances, molecules, ions, etc., to maintain the homeostasis of CNS. Long-term or high dose abuse of METH can cause structural or functional abnormalities of the BBB and increase the risk of neurodegenerative diseases. In this review, we discussed the mechanisms of METH-induced BBB dysfunction, summarized the risk factors that could exacerbate METH-induced BBB dysfunction, and introduced some potential therapeutic agents. It would provide an important basis and direction for the prevention and treatment of BBB dysfunction induced by METH.


Assuntos
Transtornos Relacionados ao Uso de Anfetaminas , Estimulantes do Sistema Nervoso Central , Metanfetamina , Síndromes Neurotóxicas , Humanos , Barreira Hematoencefálica , Estimulantes do Sistema Nervoso Central/toxicidade , Metanfetamina/efeitos adversos
5.
Front Public Health ; 11: 1046729, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36969616

RESUMO

Objective: The problem of adolescents' self-injury has gradually attracted social attention, however, a lack of research exists on the internal mechanism between social anxiety and self-injury. This study explored the relationship between social anxiety and self-injury in Chinese junior high school students. Method: An adolescent self-injury questionnaire, social anxiety scale, intolerance of uncertainty questionnaire and self-injury questionnaire were used to survey 614 junior high school students. Results: The results showed that: (1) social anxiety had a significant positive predictive effect on self-injury; (2) intolerance of uncertainty had a significant mediating effect between social anxiety and self-injury; and (3) self-esteem had a significant moderating effect on the mediating effect of intolerance of uncertainty. Conclusion: The study suggested that social anxiety in junior high school students has an impact on self-injury through mediation of intolerance of uncertainty and modulation of self-esteem.


Assuntos
Ansiedade , Estudantes , Adolescente , Humanos , Incerteza , Inquéritos e Questionários
6.
Int J Mol Sci ; 23(24)2022 Dec 08.
Artigo em Inglês | MEDLINE | ID: mdl-36555209

RESUMO

Long noncoding RNAs (lncRNAs) are distributed in various species and play critical roles in plant growth, development, and defence against stimuli. However, the lncRNA response to methyl jasmonate (MeJA) treatment has not been well characterized in Nicotiana tabacum Bright Yellow-2 (BY-2) cells, and their roles in plant defence remain elusive. Here, 7848 reliably expressed lncRNAs were identified in BY-2 cells, of which 629 differentially expressed (DE) lncRNAs were characterized as MeJA-responsive lncRNAs. The lncRNAs in BY-2 cells had a strong genus specificity in Nicotiana. The combined analysis of the cis-regulated lncRNAs and their target genes revealed the potential up- and downregulated target genes that are responsible for different biological functions and metabolic patterns. In addition, some lncRNAs for response-associated target genes might be involved in plant defence and stress resistance via their MeJA- and defence-related cis-regulatory elements. Moreover, some MeJA-responsive lncRNA target genes were related to quinolinate phosphoribosyltransferase, lipoxygenases, and endopeptidase inhibitors, which may contribute to nicotine synthesis and disease and insect resistance, indicating that MeJA-responsive lncRNAs regulate nicotine biosynthesis and disease resistance by regulating their potential target genes in BY-2 cells. Therefore, our results provide more targets for genetically engineering the nicotine content and plant defence in tobacco plants.


Assuntos
Nicotiana , RNA Longo não Codificante , Nicotiana/genética , Nicotiana/metabolismo , Nicotina/metabolismo , RNA Longo não Codificante/genética , RNA Longo não Codificante/metabolismo , Ciclopentanos/farmacologia , Ciclopentanos/metabolismo , Regulação da Expressão Gênica de Plantas
7.
J Fungi (Basel) ; 8(9)2022 Aug 24.
Artigo em Inglês | MEDLINE | ID: mdl-36135625

RESUMO

Solar radiation has been regarded as a driver of litter decomposition in arid and semiarid ecosystems. Photodegradation of litter organic carbon (C) depends on chemical composition and water availability. However, the chemical changes in organic C that respond to solar radiation interacting with water pulses remain unknown. To explain changes in the chemical components of litter organic C exposed to UV-B, UV-A, and photosynthetically active radiation (PAR) mediated by water pulses, we measured the chemistry of marcescent Lindera glauca leaf litter by solid-state 13C cross-polarization magic angle spinning (CPMAS) nuclear magnetic resonance (NMR) over 494 days of litter decomposition with a microcosm experiment. Abiotic and biotic factors regulated litter decomposition via three pathways: first, photochemical mineralization of lignin methoxyl C rather than aromatic C exposed to UV radiation; second, the biological oxidation and leaching of cellulose O-alkyl C exposed to PAR and UV radiation interacts with water pulses; and third, the photopriming effect of UV radiation on lignin aromatic C rather than cellulose O-alkyl C under the interaction between radiation and water pulses. The robust decomposition index that explained the changes in the mass loss was the ratio of aromatic C to O-alkyl C (AR/OA) under radiation, but the ratio of hydrophobic to hydrophilic C (hydrophobicity), the carbohydrate C to methoxyl C ratio (CC/MC), and the alkyl C to O-alkyl C ratio (A/OA) under radiation were mediated by water pulses. Moreover, the photopriming effect and water availability promoted the potential activities of peroxidase and phenol oxidase associated with lignin degradation secreted by fungi. Our results suggest that direct photodegradation of lignin methoxyl C increases microbial accessibility to lignin aromatic C. Photo-oxidized compounds might be an additional C pool to regulate the stability of the soil C pool derived from plant litter by degrading lignin methoxyl and aromatic C.

8.
Front Plant Sci ; 13: 943184, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35795345

RESUMO

Subtilisin-like proteases (SUBs), which are extensively distributed in three life domains, affect all aspects of the plant life cycle, from embryogenesis and organogenesis to senescence. To explore the role of SUBs in rice caryopsis development, we recharacterized the OsSUB gene family in rice (Oryza sativa ssp. japonica). In addition, investigation of the SUBs was conducted across cultivated and wild rice in seven other Oryza diploid species (O. brachyantha, O. glaberrima, O. meridionalis, O. nivara, O. punctata, O. rufipogon, and O. sativa ssp. indica). Sixty-two OsSUBs were identified in the latest O. sativa ssp. japonica genome, which was higher than that observed in wild species. The SUB gene family was classified into six evolutionary branches, and SUB1 and SUB3 possessed all tandem duplication (TD) genes. All paralogous SUBs in eight Oryza plants underwent significant purifying selection. The expansion of SUBs in cultivated rice was primarily associated with the occurrence of tandem duplication events and purifying selection and may be the result of rice domestication. Combining the expression patterns of OsSUBs in different rice tissues and qRT-PCR verification, four OsSUBs were expressed in rice caryopses. Moreover, OsSUBs expressed in rice caryopses possessed an earlier origin in Oryza, and the gene cluster formed by OsSUBs together with the surrounding gene blocks may be responsible for the specific expression of OsSUBs in caryopses. All the above insights were inseparable from the continuous evolution and domestication of Oryza. Together, our findings not only contribute to the understanding of the evolution of SUBs in cultivated and wild rice but also lay the molecular foundation of caryopsis development and engineering improvement of crop yield.

9.
Comput Intell Neurosci ; 2022: 1475069, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35875784

RESUMO

In order to provide users with more humanized and intelligent big data knowledge services, a research method of intelligent big information retrieval of Smart Library Based on graph neural network (GNN) algorithm is proposed. Through the key technical problems and solutions of information recommendation represented by graph neural network (GNN) algorithm, this method explores how the library can realize the management and value mining of big data knowledge services. The research shows that the intelligent information retrieval of Smart Library Based on graph neural network (GNN) algorithm is 80% higher than the previous general methods. Graph neural network is a more advantageous algorithm for node classification, link prediction, node clustering, or network visualization, which is of great help to improve the efficiency of information retrieval.


Assuntos
Algoritmos , Redes Neurais de Computação , Armazenamento e Recuperação da Informação
10.
J Plant Physiol ; 274: 153714, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35569367

RESUMO

Rice calcium-dependent protein kinase 21 (OsCPK21) is specifically and highly expressed throughout reproductive development and plays a critical role in rice pollen development by indirectly regulating the MIKC*-type MADS box transcription factor. However, little is known about the function of OsCPK21 in rice caryopsis development. In this study, we performed an in vitro pull-down experiment followed by liquid chromatography-tandem mass spectrometry (LC-MS/MS) analysis and identified hydroxysteroid dehydrogenase 2 (HSD2) as a candidate OsCPK21-interacting protein in 25 DAF (days after flowering) rice caryopses. Then, we verified the interaction between OsCPK21 and OsHSD2 using yeast two-hybrid and bimolecular fluorescence assays and revealed the in vitro phosphorylation of OsHSD2 by OsCPK21. Furthermore, oscpk21 and oshsd2 mutants were generated by the CRISPR/Cas9 technique, and we found that the lipid profiles were drastically changed in both oscpk21 and oshsd2, implying that OsHSD2 phosphorylated by OsCPK21 regulates lipid abundance in caryopsis development, thereby providing a potential target for the genetic improvement of rice grain quality in future lipid-related breeding and biotechnology applications.


Assuntos
Oryza , Cromatografia Líquida , Regulação da Expressão Gênica de Plantas , Metabolismo dos Lipídeos , Lipídeos , Oryza/metabolismo , Fosforilação , Melhoramento Vegetal , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo , Espectrometria de Massas em Tandem
11.
Front Med (Lausanne) ; 9: 837253, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35308551

RESUMO

In this research, we described a very rare case of thrombotic microangiopathy induced by remethylation disorders. A 16-year-old boy presented to the emergency department with 5 months of weakness and fatigue. He was diagnosed with thrombotic microangiopathy based on clinical manifestation and laboratory information, which showed microangiopathic hemolytic anemia, renal impairment, and thrombocytopenia. After a complex diagnostic workup, the metabolite screening parameters and sequencing results guided us toward the diagnosis of remethylation disorders. The patient was diagnosed with thrombotic microangiopathy induced by remethylation disorders (cblC).

12.
J Plant Physiol ; 271: 153663, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35245823

RESUMO

Long noncoding RNAs (lncRNAs) play important regulatory roles in caryopsis development and grain size in rice. However, whether there exist differences in lncRNA expression between caryopses located on primary branches (CPB) and caryopses located on secondary branches (CSB) that contribute to their differential development remains elusive. Here, we performed transcriptome-wide analysis to identify 2,273 lncRNAs expressed in CPB and CSB at 0, 5, 12, and 20 days after flowering (DAF). Although these lncRNAs were widely distributed, the majority were located in intergenic regions of the 12 rice chromosomes. Based on gene expression cluster analysis, lncRNAs expressed in CPB and CSB were clustered into two subtypes in a position-independent manner: one includes 0- and 5-DAF CPB and CSB, and 12-DAF CSB; the second includes 12-DAF CPB and 20-DAF CPB and CSB. Furthermore, according to the expression value of each lncRNA, K-means cluster analysis revealed 135 early-stage, 116 middle-stage, and 114 late-stage expression-delayed lncRNAs in CSB. Then, we analyzed the expression values of the expression-delayed lncRNAs and nearby coding genes (100 kb upstream and downstream of the lncRNAs), and found 631 lncRNA-mRNA pairs, including 258 lncRNAs and 571 nearby coding genes, some of which are related to hormone-regulated grain development. These results suggested that expression-delayed lncRNAs in CSB may regulate the development of CPB and CSB, providing insight into the mechanism underlying the developmental differences between CPB and CSB, and the differences in grain yield.


Assuntos
Oryza , RNA Longo não Codificante , Perfilação da Expressão Gênica , Oryza/metabolismo , Reguladores de Crescimento de Plantas/fisiologia , RNA Longo não Codificante/genética , RNA Longo não Codificante/metabolismo , Transcriptoma/genética
13.
Micromachines (Basel) ; 12(8)2021 Aug 02.
Artigo em Inglês | MEDLINE | ID: mdl-34442545

RESUMO

In this paper, a new method for manufacturing flexible and repeatable sensors made of silicon solar cells is reported. The method involves depositing the noble metal film directly onto the Si template and stripping out the substrate with a pyramid morphology by using an adhesive polymer. In order to evaluate the enhancement ability of the substrate, Rhodamine 6G (R6G) were used as surface-enhanced Raman scattering (SERS) probe molecules, and the results showed a high sensitivity and stability. The limit of detection was down to 10-12 M for R6G. The finite-difference time domain (FDTD) was used to reflect the distribution of the electromagnetic field, and the electric field was greatly enhanced on the surface of the inverted pyramidal substrate, especially in pits. The mechanism of Raman enhancement of two types of pyramidal SERS substrate, before and after stripping of the noble metal film, is discussed. By detecting low concentrations of plasmid DNA, the identification of seven characteristic peaks was successfully realized using a noble metallic pyramidal substrate.

14.
Hereditas ; 158(1): 20, 2021 Jun 16.
Artigo em Inglês | MEDLINE | ID: mdl-34134783

RESUMO

BACKGROUND: Craniosynostosis, defined as premature fusion of one or more cranial sutures, affects approximately 1 in every 2000-2500 live births. Sagittal craniosynostosis (CS), the most prevalent form of isolated craniosynostosis, is caused by interplay between genetic and perinatal environmental insults. However, the underlying details remain largely unknown. METHODS: The proband (a female monochorionic twin diagnosed with CS), her healthy co-twin sister and parents were enrolled. Obstetric history was extracted from medical records. Genetic screening was performed by whole exome sequencing (WES) and confirmed by Sanger sequencing. Functional annotation, conservation and structural analysis were predicted in public database. Phenotype data of Axin2 knockout mice was downloaded from The International Mouse Phenotyping Consortium (IMPC, http://www.mousephenotype.org ). RESULTS: Obstetric medical records showed that, except for the shared perinatal risk factors by the twins, the proband suffered additional persistent breech presentation and intrauterine growth restriction. We identified a heterozygous mutation of Axin2 (c.1181G > A, p.R394H, rs200899695) in monochorionic twins and their father, but not in the mother. This mutation is not reported in Asian population and results in replacement of Arg at residue 394 by His (p.R394H). Arg 394 is located at the GSK3ß binding domain of Axin2 protein, which is highly conserved across species. The mutation was predicted to be potentially deleterious by in silico analysis. Incomplete penetrance of Axin2 haploinsufficiency was found in female mice. CONCLUSIONS: Axin2 (c.1181G > A, p.R394H, rs200899695) mutation confers susceptibility and perinatal risk factors trigger the occurrence of sagittal craniosynostosis. Our findings provide a new evidence for the gene-environment interplay in understanding pathogenesis of craniosynostosis in Chinese population.


Assuntos
Proteína Axina/genética , Craniossinostoses/genética , Animais , Povo Asiático/genética , China , Feminino , Humanos , Camundongos , Camundongos Knockout , Mutação , Fatores de Risco , Gêmeos Monozigóticos , Sequenciamento do Exoma
15.
Spectrochim Acta A Mol Biomol Spectrosc ; 261: 120021, 2021 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-34116414

RESUMO

Screening and detection of early lung cancer is important for diagnosis and prognosis. Intervention in early stage of lung cancer can significantly improve the cure and survival of patients. Surface-enhanced Raman spectroscopy (SERS) is an increasingly popular method of diagnosing cancer. We used silver nanoparticles (AgNPs) as the Raman-enhanced substrate to increase Raman signals, which contributes to the subsequent classification of lung cancer and normal serum. SERS acquired from the serum indicated the difference in biochemical components between cancerous (n = 51) lung serum and normal (n = 18) serum. Principal component analysis (PCA) and partial least-squares discriminant analysis (PLS-DA) were utilized to establish the identification model, and the various indicators of PLS-DA were all superior to those of the PLS model. Our study offers a new proposal for the universal applicability of analysis and identification with SERS of serum samples in clinical diagnosis.


Assuntos
Neoplasias Pulmonares , Nanopartículas Metálicas , Análise Discriminante , Humanos , Prata , Análise Espectral Raman
16.
Front Oncol ; 11: 667212, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33987102

RESUMO

BACKGROUND: The recent discovery of miRNAs and lncRNAs in urine exosomes has emerged as promising diagnostic biomarkers for bladder cancer (BCa). However, mRNAs as the direct products of transcription has not been well evaluated in exosomes as biomarkers for BCa diagnosis. The purpose of this study was to identify tumor progression-related mRNAs and lncRNAs in urine exosomes that could be used for detection of BCa. METHODS: RNA-sequencing was performed to identify tumor progression-related biomarkers in three matched superficial tumor and deep infiltrating tumor regions of muscle-invasive bladder cancer (MIBC) specimens, differently expressed mRNAs and lncRNAs were validated in TCGA dataset (n = 391) in the discovery stage. Then candidate RNAs were chosen for evaluation in urine exosomes of a training cohort (10 BCa and 10 healthy controls) and a validation cohort (80 BCa and 80 healthy controls) using RT-qPCR. The diagnostic potential of the candidates were evaluated by receiver operating characteristic (ROC) curves. RESULTS: RNA sequencing revealed 8 mRNAs and 32 lncRNAs that were significantly upregulated in deep infiltrating tumor region. After validation in TCGA database, 10 markedly dysregulated RNAs were selected for further investigation in urine exosomes, of which five (mRNAs: KLHDC7B, CASP14, and PRSS1; lncRNAs: MIR205HG and GAS5) were verified to be significantly dysregulated. The combination of the five RNAs had the highest AUC to disguising the BCa (0.924, 95% CI, 0.875-0.974) or early stage BCa patients (0.910, 95% CI, 0.850 to 0.971) from HCs. The expression levels of these five RNAs were correlated with tumor stage, grade, and hematuria degrees. CONCLUSIONS: These findings highlight the potential of urine exosomal mRNAs and lncRNAs profiling in the early diagnosis and provide new insights into the molecular mechanisms involved in BCa.

17.
Lab Med ; 52(5): e125-e128, 2021 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-33595087

RESUMO

Separator gels in blood collection tubes are used to separate serum from clotted whole blood or plasma from cells. Here we present a case of a patient with a contradictory phenomenon between the serum separator tube and the plasma tube. The serum separator tube showed mixed serum and separator gel and distinctly less serum. However, the plasma tube showed fewer cells. Laboratory study revealed an IgG level of 78.9 g/L. Serum immunofixation electrophoresis analysis identified the abnormal pattern as a dense IgG band with a corresponding dense light chain band of λ. Bone marrow smear showed 53% proplasmacytes. The patient was diagnosed with multiple myeloma. The marked hyperproteinemia, especially hyperimmunoglobulinemia, may have resulted in the density alteration of serum that was mixed or located above the separator gel. This phenomenon is also seen in patients injected with iodinated radiologic contrast media such as iohexol and in patients on hemodialysis with a concentrated sodium citrate solution.


Assuntos
Coleta de Amostras Sanguíneas , Géis , Humanos , Imunoglobulina G , Mieloma Múltiplo
18.
BMC Nephrol ; 22(1): 24, 2021 01 11.
Artigo em Inglês | MEDLINE | ID: mdl-33430795

RESUMO

BACKGROUND: Dent disease is an X-linked form of progressive renal disease. This rare disorder was characterized by hypercalciuria, low molecular weight (LMW) proteinuria and proximal tubular dysfunction, caused by pathogenic variants in CLCN5 (Dent disease 1) or OCRL (Dent disease 2) genes. Fanconi syndrome is a consequence of decreased water and solute resorption in the proximal tubule of the kidney. Fanconi syndrome caused by proximal tubular dysfunction such as Dent disease might occur in early stage of the disease. CASE PRESENTATION: Three cases reported in this study were 3-, 10- and 14-year-old boys, and proteinuria was the first impression in all the cases. All the boys presented with LMW proteinuria and elevated urine albumin-to-creatinine ratio (ACR). Case 1 revealed a pathogenic variant in exon 11 of CLCN5 gene [NM_001127899; c.1444delG] and a nonsense mutation at nucleotide 1509 [p.L503*], and he was diagnosed as Dent disease 1. Case 2 carried a deletion of exon 3 and 4 of OCRL1 gene [NM_000276.4; c.120-238delG…A] and a nonsense mutation at nucleotide 171 in exon 5 [p.E57*], and this boy was diagnosed as Dent disease 2. Genetic analysis of Case 3 showed a missense mutation located in exon 2 of HNF4A gene [EF591040.1; c.253C > T; p.R85W] which is responsible for Fanconi syndrome. All of three pathogenic variants were not registered in GenBank. CONCLUSIONS: Urine protein electrophoresis should be performed for patients with proteinuria. When patients have LMW proteinuria and/or hypercalciuria, definite diagnosis and identification of Dent disease and Fanconi syndrome requires further genetic analyses.


Assuntos
Doença de Dent/diagnóstico , Síndrome de Fanconi/diagnóstico , Adolescente , Criança , Pré-Escolar , Doença de Dent/complicações , Doença de Dent/genética , Síndrome de Fanconi/complicações , Síndrome de Fanconi/genética , Humanos , Masculino , Peso Molecular , Proteinúria/etiologia
19.
Front Psychol ; 12: 773421, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-35115984

RESUMO

This study examined the effect of self-support on loneliness, the mediation effect of school belonging, and the moderation effect of self-esteem using a sample comprising 1,126 Chinese mainland primary school students, 621 are boys and 505 are girls, and their mean age was 10.51 years (SD = 1.63, range 8-13). Participants completed questionnaires regarding self-support, loneliness, school belonging and self-esteem. In the model hypothesis, self-support is an independent variable, loneliness is an outcome variable, school belonging is a mediating variable, and self-esteem is a regulatory variable. After controlling the demographic variables, the data were analyzed, and the results showed that: (1) self-support had a significantly negative predictive effect on loneliness; (2) the relation between self-support and loneliness was mediated by school belonging; and (3) the relation between school belonging and loneliness was moderated by self-esteem, supporting the moderated mediation model. Moderated mediation analysis further indicated that the mediated path make loneliness weaker for pupils with higher levels of self-esteem. These results revealed the formation mechanism of loneliness in primary school students and have certain enlightenment significance for the intervention of loneliness in primary school students. These results revealed the formation mechanism of loneliness among primary school students and have significant implications for interventions against loneliness in the primary school context.

20.
Front Psychol ; 12: 790700, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-35058852

RESUMO

Some previous studies have explored the impact of family function on school belonging. However, little is known about the parallel mediating relationship underlying them. This study aims to investigate the formation mechanism of school beginning in a sample of Chinese adolescents and examined the parallel mediating role of interpersonal self-support and individual self-support in the link between family function and school belonging. A cross-sectional study was conducted in four schools of the district of Hunan province in China, and 741 students were surveyed using cluster sampling. Family cohesion and adaptability scale (FACES), Adolescent students self-supporting personality scale (SSPS-AS), School belonging scale were applied. The results indicated that interpersonal self-support and individual self-support, together, and uniquely, parallel mediated the relationship between family function and school belonging. It can be concluded that family function not only has direct effects on school belonging but also has indirect effects through interpersonal self-support and individual self-support.

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