Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 51
Filtrar
1.
BMC Cardiovasc Disord ; 23(1): 523, 2023 10 27.
Artigo em Inglês | MEDLINE | ID: mdl-37891491

RESUMO

BACKGROUND: Metabolic disorders were a health problem for many adults with congenital heart disease, however, the differences in metabolic syndrome-related metabolite levels in adults with congenital heart disease compared to the healthy population were unknown. METHODS: We collected 18 studies reporting metabolic syndrome-associated metabolite levels in patients with congenital heart disease. Data from different studies were combined under a random-effects model using Cohen's d values. RESULTS: The results found that the levels of total cholesterol (Cohen's d -0.68, 95% CI: -0.91 to -0.45), high-density lipoprotein cholesterol (Cohen's d -0.63, 95% CI: -0.89 to -0.37), and low-density lipoprotein cholesterol (Cohen's d -0.32, 95% CI: -0.54 to -0.10) were significantly lower in congenital heart disease patients compared with controls. Congenital heart disease patients also had a lower body mass index (Cohen's d -0.27, 95% CI: -0.42 to -0.12) compared with controls. On the contrary, congenital heart disease patients had higher levels of hemoglobin A1c (Cohen's d 0.93, 95% CI: 0.17 to 1.70) than controls. Meanwhile, there were no significant differences in triglyceride (Cohen's d 0.07, 95% CI: -0.09 to 0.23), blood glucose (Cohen's d -0.12, 95% CI: -0.94 to 0.70) levels, systolic (Cohen's d 0.07, 95% CI: -0.30 to 0.45) and diastolic blood pressure (Cohen's d -0.10, 95% CI: -0.39 to 0.19) between congenital heart disease patients and controls. CONCLUSIONS: The lipid levels in patients with congenital heart disease were significantly lower than those in the control group. These data will help in the health management of patients with congenital heart disease and guide clinicians. PROSPERO REGISTRATION NUMBER: CRD42022228156.


Assuntos
Cardiopatias Congênitas , Síndrome Metabólica , Humanos , Adulto , Triglicerídeos , Cardiopatias Congênitas/diagnóstico , HDL-Colesterol , LDL-Colesterol
2.
J Hum Genet ; 64(5): 427-435, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30760879

RESUMO

Congenital heart defects (CHDs), the most common congenital human birth anomalies, involves complex genetic factors. Wnt/ß-catenin pathway is critical for cardiogenesis and proved to be associated with numerous congenital heart abnormities. AXIN2 has a unique role in Wnt/ß-catenin pathway, as it is not only an important inhibitor but also a direct target of Wnt/ß-catenin pathway. However, whether AXIN2 is associated with human CHDs has not been reported. In our present study, we found a differential expression of Axin2 mRNA during the development of mouse heart, indicating its importance in mouse cardiac development. Then using targeted next-generation sequencing, we found two novel case-specific rare mutations [c.28 C > T (p.L10F), c.395 A > G (p.K132R)] in the sequencing region of AXIN2. In vitro functional analysis suggested that L10F might be a loss-of-function mutation and K132R is a gain-of-function mutation. Both mutations disrupted Wnt/ß-catenin pathway and failed to rescue CHD phenotype caused by Axin2 knockdown in zebrafish model. Collectively, our study indicates that rare mutations in AXIN2 might contribute to the risk of human CHDs and a balanced canonical Wnt pathway is critical for cardiac development process. To our knowledge, it is the first study of AXIN2 mutations associated with human CHDs, providing new insights into CHD etiology.


Assuntos
Proteína Axina/genética , Cardiopatias Congênitas/genética , Mutação de Sentido Incorreto , Substituição de Aminoácidos , Animais , Povo Asiático , Proteína Axina/metabolismo , Criança , Pré-Escolar , China , Estudos de Coortes , Feminino , Técnicas de Silenciamento de Genes , Cardiopatias Congênitas/metabolismo , Cardiopatias Congênitas/patologia , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Lactente , Masculino , Camundongos , Via de Sinalização Wnt/genética , Peixe-Zebra/genética , Peixe-Zebra/metabolismo
3.
IUBMB Life ; 69(9): 700-705, 2017 09.
Artigo em Inglês | MEDLINE | ID: mdl-28834160

RESUMO

Elevated homocysteine levels are known to be a risk factor for congenital cardiac septal defects (CCSDs), but the mechanism underlying this effect is unknown. The genetic variants that were significantly associated with circulating homocysteine concentrations have been systematically identified through the genome-wide association studies of one-carbon core metabolites. To examine the role of the genome-wide significant homocysteine related variants in the occurrence of CCSDs, we investigated the association between these variants and CCSDs in Han Chinese populations. Five variants of the genome-wide significant homocysteine-related genes were selected for analysis in two stages of case-controlled studies with a total of 904 CCSD patients and 997 controls. SYT9 expression was detected in human cardiovascular tissue using qRT-PCR. The intronic variant rs11041321 of the SYT9 gene was associated with an increased risk of developing CCSDs in both the separate and combined case-controlled studies. Combined samples from the two stage cohorts had a significant elevation in CCSD risk for the T allele (OR = 1.43, P = 2.6 × 10-6 ), CT genotype and TT genotype (CT: OR = 1.30, TT: OR = 2.21; P = 1 × 10-4 ) compared with the wild-type C allele and CC genotype, respectively. The risky T allele carriers exhibited decreased SYT9 mRNA expression, compared with wild-type C allele carriers. The intronic SYT9 variant rs11041321, which exhibits a significant genome-wide association with circulating homocysteine, was associated with the occurrence of CCSDs. This finding helps to characterize the unexpected role of SYT9 in homocysteine metabolism and the development of CCSDs, which further highlighted the interplay of diet, genetics, and human birth defects. © 2017 IUBMB Life, 69(9):700-705, 2017.


Assuntos
Predisposição Genética para Doença , Defeitos dos Septos Cardíacos/genética , Homocisteína/genética , Sinaptotagminas/genética , Alelos , Feminino , Expressão Gênica/genética , Estudos de Associação Genética , Genótipo , Defeitos dos Septos Cardíacos/patologia , Homocisteína/metabolismo , Humanos , Masculino , Polimorfismo de Nucleotídeo Único/genética , Fatores de Risco
4.
Zhonghua Nan Ke Xue ; 23(5): 441-447, 2017 May.
Artigo em Chinês | MEDLINE | ID: mdl-29717836

RESUMO

OBJECTIVE: To explore the risk factors for different types of hypospadias. METHODS: According to the 1∶1 ratio, we included hypospadias children in the case group and those without urinary abnormality as controls, all from the Third Affiliated Hospital of Zhengzhou University between October 2015 to October 2016. Using univariate and multivariate logistic regression analyses, we investigated the risk factors for hypospadias as well as for four different types of the disease. RESULTS: Among the 440 subjects, the risk factors for hypospadias included preterm birth, fetal growth restriction, rural residence of the mother, pregnancy age <20 or >35 years, primipara, maternal smoking (including passive smoking), oral progesterone, cold or fever during pregnancy, and exposure to high temperature in early pregnancy, while the protective factors included protein supplement in early pregnancy. The pregnancy age <20 or >35 years was the main risk factor for type I hypospadias; preterm birth, fetal growth restriction, rural residence of the mother, primipara, and maternal smoking (including passive smoking) during pregnancy were the risk factors for type Ⅱ; preterm birth, fetal growth restriction, rural residence of the mother, and exposure to high temperature in early pregnancy were those for type Ⅲ; and exposure to high temperature in early pregnancy and oral progesterone during pregnancy were those for type Ⅳ. CONCLUSIONS: The risk factors for hypospadias vary for different types, and therefore hypospadias-related clinical studies should be conducted and preventive measures should be taken accordingly. However, a larger sample size is needed to get more scientific and reliable results concerning the risk factors for different types of hypospadias.


Assuntos
Hipospadia/etiologia , Adulto , Feminino , Retardo do Crescimento Fetal , Humanos , Hipospadia/classificação , Recém-Nascido , Masculino , Idade Materna , Gravidez , Nascimento Prematuro , Análise de Regressão , Fatores de Risco , População Rural , Fumar , Adulto Jovem
5.
Clin Sci (Lond) ; 130(24): 2329-2340, 2016 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-27756857

RESUMO

The planar cell polarity (PCP) pathway is critical for proper embryonic development of the neural tube and heart. Mutations in these genes have previously been implicated in the pathogenesis of neural tube defects (NTDs), but not in congenital heart defects (CHDs) in humans. We systematically identified the mutation patterns of CELSR1-3, one family of the core PCP genes, in human cohorts composed of 352 individuals with NTDs, 412 with CHDs and matched controls. A total of 72 disease-specific, rare, novel, coding mutations were identified, of which 37 were identified in patients with CHDs and 36 in patients with NTDs. Most of these mutations differed between the two cohorts, because only one novel missense mutation in CELSR1 (c.2609G>A p.P870L) was identified in both NTD and CHD patients. Both in vivo and in vitro assays revealed that CELSR1 P870L is a gain-of-function mutation. It up-regulates not only the PCP pathway, but also canonical WNT signalling in cells, and also induces both NTDs and CHDs in zebrafish embryos. As almost equal numbers of mutations were identified in each cohort, our results provided the first evidence that mutations in CELSR genes are as likely to be associated with CHDs as with NTDs, although the specific mutations differ between the two cohorts. Such differences in mutation panels suggested that CELSRs [cadherin, EGF (epidermal growth factor), LAG (laminin A G-type repeat), seven-pass receptors)] might be regulated differently during the development of these two organ systems.

6.
Gene ; 922: 148458, 2024 Sep 05.
Artigo em Inglês | MEDLINE | ID: mdl-38608796

RESUMO

AIMS: To investigate the association between single nucleotide polymorphisms (SNPs) in 3'UTR region of VAX1, SYT14 and PAX7 genes and the risk of non-syndromic cleft palate (NSCLP) in a northwest Chinese population. MAIN METHODS: A case-control study was conducted in 406 normal controls and 399 NSCLP patients. Using iMLDRTM genotyping technology, eight SNPs of three genes ((rs10787760, rs7086344 at VAX1), (rs1010113, rs851114, and rs485874 at PAX7), and (rs61820397, rs4609425, rs12133399 at SYT14)) were genotyped to investigate the differences in alleles and genotype distribution frequencies between NSCLP patients and healthy controls. RNA Folding Form software was used to predict RNA secondary structure and expression vectors were constructed to explore the function of the relevant SNP. The effect of SNP polymorphism of gene transcription and translation was assessed using qPCR and Western blot analysis. KEY FINDINGS: Among the eight SNPs of three genes, rs10787760 of VAX1 gene was found to be associated with an increased risk of NSCLP (OR = 1.341, CI = 1.004-1.790) and the GA genotype of rs10787760 increased the risk of cleft lip and/or palate (CL/P) about 1.42 times (p < 0.05), and carrying the A allele might increase the risk of NSCL/P in male (OR = 1.356, 95 % CI = 1.010-1.823). But there was no association observed with cleft palate only (CPO). Cell function experiments revealed that the G to A mutation in rs10787760 up-regulated GFP-VAX1 transcriptional level by 2.39 and 3.13 times in two cell lines respectively, and enhance the protein expression of the VAX1 gene further. RNA secondary structure study showed that the rs10787760 (G > A) had two different secondary structures in 3'UTR region. SIGNIFICANCE: The rs10787760 variant in the 3'UTR region of VAX1 gene is associated with CL/P in northwest Chinese population. We hypothesize that the machanism of it might be caused by the RNA differenct fold in the 3'UTR region caused by the polymorphism of the gene. LEVEL OF EVIDENCE: Original Reports.


Assuntos
Regiões 3' não Traduzidas , Povo Asiático , Fissura Palatina , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único , Feminino , Humanos , Masculino , Regiões 3' não Traduzidas/genética , Povo Asiático/genética , Estudos de Casos e Controles , China , Fissura Palatina/genética , População do Leste Asiático , Genótipo , Regulação para Cima/genética
7.
Chin Med J (Engl) ; 137(12): 1389-1398, 2024 Jun 20.
Artigo em Inglês | MEDLINE | ID: mdl-38275022

RESUMO

ABSTRACT: Cancer is a major global health issue. Effective therapeutic strategies can prolong patients' survival and reduce the costs of treatment. Drug repurposing, which identifies new therapeutic uses for approved drugs, is a promising approach with the advantages of reducing research costs, shortening development time, and increasing efficiency and safety. Disulfiram (DSF), a Food and Drug Administration (FDA)-approved drug used to treat chronic alcoholism, has a great potential as an anticancer drug by targeting diverse human malignancies. Several studies show the antitumor effects of DSF, particularly the combination of DSF and copper (DSF/Cu), on a wide range of cancers such as glioblastoma (GBM), breast cancer, liver cancer, pancreatic cancer, and melanoma. In this review, we summarize the antitumor mechanisms of DSF/Cu, including induction of intracellular reactive oxygen species (ROS) and various cell death signaling pathways, and inhibition of proteasome activity, as well as inhibition of nuclear factor-kappa B (NF-κB) signaling. Furthermore, we highlight the ability of DSF/Cu to target cancer stem cells (CSCs), which provides a new approach to prevent tumor recurrence and metastasis. Strikingly, DSF/Cu inhibits several molecular targets associated with drug resistance, and therefore it is becoming a novel option to increase the sensitivity of chemo-resistant and radio-resistant patients. Studies of DSF/Cu may shed light on its improved application to clinical tumor treatment.


Assuntos
Dissulfiram , Reposicionamento de Medicamentos , Neoplasias , Dissulfiram/uso terapêutico , Dissulfiram/farmacologia , Humanos , Neoplasias/tratamento farmacológico , Antineoplásicos/uso terapêutico , Antineoplásicos/farmacologia , Espécies Reativas de Oxigênio/metabolismo , Células-Tronco Neoplásicas/efeitos dos fármacos , Transdução de Sinais/efeitos dos fármacos , NF-kappa B/metabolismo
8.
Polymers (Basel) ; 16(17)2024 Aug 31.
Artigo em Inglês | MEDLINE | ID: mdl-39274120

RESUMO

With the development of material science and increasing awareness of ecological environmental protection, liquid biodegradable mulch films (LBDMs) have garnered significant public interest. In this research, new LBDMs were developed using hydrophobically modified polymer materials, surfactants, and photosensitive catalysts. Characterization by scanning electron microscopy (SEM) revealed good material compatibility. LBDMs exhibited excellent wettability and degradability, effectively covering soil surfaces and enhancing soil moisture conservation, with a degradation rate of 76.09% after 80 days of burial. The field performance experiment was conducted over two consecutive years, 2021 and 2022, to assess differences in soil temperature and moisture, peanut agronomic traits, pod traits, and yield under four treatments: non-mulching (CK), LBDMs, clear polyethylene mulch films (CPEMs), and black polyethylene mulch films (BPEMs). LBDMs increased soil temperature by 0.56 °C and soil moisture by 19.25%, accelerated the seedling stage by 4-to-6 days, and improved the average emergence rate by 15.91%. Furthermore, LBDMs significantly promoted peanut growth, and it increased yield by 14.34% compared to CK. LBDMs performed comparably to the two types of PE films in maintaining soil conditions and different crop phenotype traits, including plant height, branch number, yield, and quality, and they even outperformed PE films in productivity per plant and 100-kernel weight. These findings suggest that LBDMs are a promising eco-friendly alternative to traditional PE films.

9.
Mol Biol Rep ; 40(2): 1291-9, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23076529

RESUMO

There is evidence suggesting that genetic variants of Nodal signaling may be associated with risk of congenital heart diseases (CHDs), in which several polymorphisms, such as Nodal rs1904589, have been considered to be implicated in the accumulation of the genetic burden of CHD risk with interacting genes. We hypothesized that genetic variants of GDF1, a protein that heterodimerizes with Nodal, may be related to increased CHD susceptibility. In this study, four tagSNPs of GDF1 were genotyped in 310 non-syndromic CHD patients and 320 healthy controls by using PCR-based DHPLC and RFLP. The results showed no statistically significant differences in genotype and allele frequencies between CHDs and controls with any of the analyzed variants of GDF1. However, a weak statistical association existed between GDF1 rs4808870 and conotruncal defects (CTDs) (uncorrected P = 0.027). Further stratified analysis for subtype revealed the SNP AA genotype and A allele have statistical significance in pulmonary atresia (PA) (corrected P = 1.01 × 10(-3) and 0.015, respectively), especially in pulmonary atresia with intact ventricular septum (PA + IVS) (corrected P = 1.67 × 10(-3) and 0.034, respectively). Furthermore, two haplotypes, TGGT and CAGT, were found to be significantly associated with increased CHD susceptibility (corrected P = 3.20 × 10(-3) and 2.73 × 10(-7), respectively). In summary, our results provide evidence that genetic variations of the Nodal-like factor, GDF1 may be associated with CHD risk, and these variations contribute at least in part to the development of some subtypes of CTD in the Chinese Han population.


Assuntos
Fator 1 de Diferenciação de Crescimento/genética , Cardiopatias Congênitas/genética , Polimorfismo de Nucleotídeo Único , Estudos de Casos e Controles , China , Feminino , Frequência do Gene , Estudos de Associação Genética , Humanos , Desequilíbrio de Ligação , Masculino , Risco , Análise de Sequência de DNA
10.
PLoS One ; 18(1): e0279995, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36595542

RESUMO

BACKGROUND: Opinions on the optimal age for surgical management of hydroceles in young boys are not uniform. Scrotal ultrasonography can be used to diagnose hydroceles and measure testicular size. A comparison of bilateral testicular size with hydrocele and the change in trend with age has not been reported. We therefore aimed to analyze the bilateral testicular size of children with unilateral non-communicating hydroceles and examine the correlation between age and testicular volume. METHODS: Non-communicating hydrocele cases in children were included. Ultrasound results, age, and diagnose time were retrospectively recorded. The bilateral testicular size was compared, and the correlation between age and testicular volume was analyzed. RESULTS: There were 138 cases of non-communicating hydrocele, ranging in age from 11 to 72 months. The diagnose time ranged from 3 days to 54 months. The volume of the testis on the side of the hydrocele was larger than that on the normal side (P < 0.001). Testicular length was not different bilaterally. Testicular width and height were greater on the hydrocele side than on the normal testicular side (P<0.001). Age was positively correlated with testicular volume on the normal side (P = 0.004) but not on the hydrocele side. CONCLUSIONS: An important finding was that when the contralateral normal testicular volume increases with age, the testicular volume does not increase on the hydrocele side. This finding confirms the adverse effects of hydrocele on testicular growth and provides a basis for early treatment.


Assuntos
Hidrocele Testicular , Testículo , Masculino , Humanos , Criança , Lactente , Pré-Escolar , Testículo/diagnóstico por imagem , Testículo/cirurgia , Estudos Retrospectivos , Hidrocele Testicular/diagnóstico por imagem , Hidrocele Testicular/cirurgia , Escroto , Ultrassonografia
11.
Biomolecules ; 13(6)2023 06 14.
Artigo em Inglês | MEDLINE | ID: mdl-37371567

RESUMO

Around 11% of all known gene lesions causing human genetic diseases are nonsense mutations that introduce a premature stop codon (PTC) into the protein-coding gene sequence. Drug-induced PTC readthrough is a promising therapeutic strategy for treating hereditary diseases caused by nonsense mutations. To date, it has been found that more than 50 small-molecular compounds can promote PTC readthrough, known as translational readthrough-inducing drugs (TRIDs), and can be divided into two major categories: aminoglycosides and non-aminoglycosides. This review summarizes the pharmacodynamics and clinical application potential of the main TRIDs discovered so far, especially some newly discovered TRIDs in the past decade. The discovery of these TRIDs brings hope for treating nonsense mutations in various genetic diseases. Further research is still needed to deeply understand the mechanism of eukaryotic cell termination and drug-induced PTC readthrough so that patients can achieve the greatest benefit from the various TRID treatments.


Assuntos
Códon sem Sentido , Biossíntese de Proteínas , Humanos , Códon sem Sentido/genética , Aminoglicosídeos/farmacologia , Aminoglicosídeos/uso terapêutico , Antibacterianos/farmacologia , Preparações Farmacêuticas
12.
Front Immunol ; 14: 1091237, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37593735

RESUMO

The emergence of a vaccine against hepatitis B has proven to be an important milestone in the prevention of this disease; however, 5%-10% of vaccinated individuals do not generate an immune response to the vaccine, and its molecular mechanism has not been clarified. In this study, single-cell RNA sequencing was performed on peripheral blood mononuclear cells (PBMCs) from three volunteers with a high immune response (HR) and three with no immune response (NR) to the hepatitis B vaccine. We found that the antigen-presenting activity scores of various antigen-presenting cells, the mitogen-activated protein kinase (MAPK) pathway activity scores of naive B cells, and the cell activity scores of three types of effector T cells were significantly decreased, whereas the cytotoxicity scores of CD3highCD16lowKLRG1high natural killer T (NKT) cells were significantly increased in the NR group compared with those in the HR group. Additionally, the expression levels of some classical molecules associated with distinct signaling pathways-including HLA-B, HLA-DRB5, BLNK, BLK, IL4R, SCIMP, JUN, CEBPB, NDFIP1, and TXNIP-were significantly reduced in corresponding subsets of PBMCs from the NR group relative to those of the HR group. Furthermore, the expression of several cytotoxicity-related effector molecules, such as GNLY, NKG7, GZMB, GZMM, KLRC1, KLRD1, PRF1, CST7, and CTSW, was significantly higher in CD3highCD16lowKLRG1high NKT cells derived from non-responders. Our study provides a molecular basis for the lack of response to the hepatitis B vaccine, including defective antigen presentation, decreased T cell activity, and reduced IL-4 secretion, as well as novel insight into the role of NKT cells in the immune response to the hepatitis B vaccine.


Assuntos
Vacinas contra Hepatite B , Transcriptoma , Humanos , Leucócitos Mononucleares , Perfilação da Expressão Gênica , Análise de Sequência de RNA
13.
Mol Biol Rep ; 39(9): 8873-82, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22714917

RESUMO

The association between the signal transducer and activator of transcription 4 (STAT4) gene rs7574865 single nucleotide polymorphism and different autoimmune diseases remains controversial and ambiguous. We conducted this study to investigate whether combined evidence shows the association between STAT4 rs7574865 polymorphism and autoimmune diseases. Comprehensive Medline search and review of the references were used to get the relevant reports published before September 2011. Meta-analysis was conducted for genotype T/T (recessive effect), T/T + G/T (dominant effect) and T allele in random effects models. 40 studies with 90 comparisons including 32 systemic lupus erythematosus (SLE), 19 rheumatoid arthritis (RA), 3 type 1 diabetes (T1D), 11 Systemeric Sclerosis (SSc), 4 inflammatory bowed diseases (IBD), 3 Primary Sjogren's syndrome (pSS), 4 juvenile idiopathic arthritis (JIA), 2 Primary antiphospholipid syndrome (APS), 1 Autoimmune thyroid diseases, 1 multiple sclerosis, 1 Psoriasis, 1 Wegener's granulomatosis, 1 Type 2 diabetes, and 1 giant cell arteritis disease were available for this meta-analysis. The overall odds ratios for rs7574865 T-allele significantly increased in SLE, RA, T1D, SSc, JIA, and APS (OR = 1.56, 1.25, 1.13, 1.34, 1.25, and 2.15, respectively, P < 0.00001) and in IBD-UC and pSS (OR = 1.11 and 1.33, respectively, P < 0.05). This meta-analysis demonstrates that the STAT4 rs7574865 T allele confers susceptibility to SLE, RA, T1D, SSc, JIA, APS, IBD-UC, and pSS patients, supporting the hypothesis of association between STAT4 gene polymorphism and subgroup of autoimmune diseases.


Assuntos
Doenças Autoimunes/genética , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único , Fator de Transcrição STAT4/genética , Alelos , Estudos de Casos e Controles , Frequência do Gene , Genótipo , Humanos , Razão de Chances , Viés de Publicação
14.
Environ Technol ; 33(1-3): 191-9, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22519103

RESUMO

A highly ordered and vertically oriented array of nanotubes (NTs) of mixed oxide was prepared in situ by Ti-W alloy anodization. Compared with the traditional TiO2 NTs, the photoelectrocatalytic activity of the resulting Ti-W-O NTs was greatly enhanced. Results indicated a narrowing of the band gap from 3.2 eV for pristine TiO2 to 2.7 eV for Ti-W-O NTs. Under irradiation with 254 and 365 nm UV lights, Ti-W-O NTs showed much higher photoelectroconversion efficiency (eta) than TiO2 NTs and TiO2-WO3 coating. The eta254 and eta365 on Ti-W-O NTs reached as high as 51.8% and 57.0% respectively, four to five times those on TiO2 NTs and TiO2-WO3 coating. As a result of its narrow band gap energy and fast electron-hole separation, Ti-W-O NTs presented outstanding photoelectrocatalytic features. The electrochemically assisted photocatalytic degradation of highly concentrated Rhodamine 6G wastewaters was studied. The results showed that the rates of colour and TOC removal were much higher on Ti-W-O NTs than on TiO2 NTs and TiO2-WO3 coating. The photocatalytic material obtained by alloy anodization is of significance in the advanced oxidation of environmental pollutants.


Assuntos
Ligas/química , Corantes Fluorescentes/química , Nanotubos/química , Óxidos/química , Rodaminas/química , Purificação da Água/métodos , Eletroquímica , Fotólise
15.
Asian J Androl ; 24(5): 500-502, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35645044

RESUMO

Cryptorchidism affects the growth of testicular volume. Testicular volume is associated with reproductive function. The testicular atrophy index evaluates the degree of damage caused by cryptorchidism, but it remains unclear whether changes in testicular atrophy index are related to age. We selected patients who underwent surgery for unilateral palpable cryptorchidism. Testicular volume was measured using ultrasonography. The testicular atrophy indices of the undescended testes were then reviewed, and their correlation with age was analyzed. We studied 228 cases (age range: 6-53 months). Scatter plots were constructed, and Loess curves were fitted, revealing a turning point at 24 months of age. The patients were divided into age groups of 6-24 months and 25-53 months. The testicular volume of the cryptorchid side was smaller than that of the normal side in both groups (both P < 0.001). In the 6-24-month group, the testicular atrophy index was positively correlated with age, testicular volume on the cryptorchid side was not correlated with age, and testicular volume was positively correlated with age on the normal side. In the 25-53-month group, testicular atrophy index and testicular volumes on either side were not correlated with age. A palpable unilateral cryptorchid testis is smaller than the contralateral testis. The testicular atrophy index increases with age between 6 months and 24 months, but not between 25 months and 53 months. Testicular volume increased with age on the normal side between 6 months and 24 months, but not on the cryptorchid side. Trends in testicular atrophy index with age contribute to the decision of operation time.


Assuntos
Criptorquidismo , Atrofia , Pré-Escolar , Humanos , Lactente , Masculino , Testículo , Ultrassonografia
16.
Front Genet ; 13: 936292, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35928447

RESUMO

Hereditary Spastic Paraplegia (HSP) is considered to be one of the common neurodegenerative diseases with marked genetic heterogeneity. Recently, the mutations in ubiquitin-associated protein 1 (UBAP1) have been described in patients with HSP, known as spastic paraplegias 80 (SPG80). Here, we reported a Chinese HSP family presenting a frameshift mutation in the UBAP1 gene leading to complex HSP. Their clinical features encompassed spastic paraparetic gait, exaggerated patellar tendon reflexes, bilateral Babinski signs, and hyperactive Achilles tendon reflex. The proband also had severe urinary incontinence and a dermoid cyst at the lumbar 4-5 spinal cord, which rarely occurs in HSP patients. Following whole-exome sequencing, a novel heterozygous mutation (c.437dupG, NM_016,525) was identified in the UBAP1 that segregated with the family's phenotype and resulted in truncating UBAP1 protein (p.Ser146ArgfsTer13). Moreover, we reviewed the genotypes of UBAP1 and the phenotypic variability in 90 HSP patients reported in the literature. We found that the age of onset in UBAP1-related patients was juvenile, and there were population differences in the age of onset. The main complications were lower extremity spasticity, hyperreflexia, and the Babinski sign. Exon 4 of UBAP1 was identified as a mutation hotspot region. Our study expands the knowledge of UBAP1 mutations, which will aid in HSP patient counseling. Further molecular biological research is needed to explore the genotype-phenotype correlations of UBAP1-related HSP.

17.
ACS Nano ; 16(1): 1318-1331, 2022 01 25.
Artigo em Inglês | MEDLINE | ID: mdl-34939419

RESUMO

Under the background of the strategy of reducing pesticide application and increasing efficiency, the mechanism and common technology of efficient and accurate target deposition of chemical pesticides are the key development direction. The interaction between pesticide droplets and a leaf surface affects the deposition behavior of pesticides. However, cucumber leaf surface modified by powdery mildew pathogens at different growth stages is more hydrophobic than a normal leaf surface, which hinders the accurate deposition of pesticides on cucumber powdery mildew leaves. Here, an effective strategy for controlling pesticide efficiency for the entire journey of pesticide application is proposed. Based on the impact dynamics of droplets, the dynamic direction of droplet bounce is determined, the trajectory of droplet rebound is preliminarily determined, and the pinning sites formed by droplets on the surface of cucumber leaves with powdery mildew are confirmed. By analyzing the dynamics in the retraction stage and the energy dissipation rate for droplets after impact, the basic parameters that can be used to simply characterize droplet rebound are screened out, and the effect of addition of an effective surfactant is determined by characterizing the basic parameters (energy dissipation rate, retraction rate, recovery coefficient). The molecular structure formed by the addition of nonionic surfactant in pesticide solution is more appropriate to the interaction between the powdery mildew layer and the pesticide solution, which ensured that the droplets are well wet and deposited on cucumber powdery mildew leaves. Meanwhile, a force balance model for the pesticide droplet wetting state is established to calculate the pinning force for the droplet and predict the transition direction for the droplet wetting state. Impact dynamics combined with force balance model analysis provides a constructive method to improve pesticide utilization during the entire journey for pesticide application on hydrophobic plant surfaces.


Assuntos
Praguicidas , Interações Hidrofóbicas e Hidrofílicas , Molhabilidade , Folhas de Planta/química , Tensoativos/química
18.
Birth Defects Res A Clin Mol Teratol ; 91(10): 918-24, 2011 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-21800413

RESUMO

BACKGROUND: Nonsyndromic cleft lip and/or cleft palate (NSCLP) are common congenital anomalies in humans, the etiologies of which are complex and associated with both genetic and environmental factors. Previous data suggested single nucleotide polymorphisms (SNPs) of rs1546124, rs4783099, and rs16974880 of the CRISPLD2 gene were associated with an increased risk of NSCLP; however, subsequent studies have yielded conflicting results. This study aims to evaluate the associations of the aforementioned polymorphisms with NSCLP in a Northwestern Chinese population. METHODS: Three CRISPLD2 SNPs were genotyped in a case-control study (n = 907), including 444 NSCLP patients and 463 healthy individuals, using polymerase chain reaction-denaturing high-performance liquid chromatography (PCR-DHPLC). RESULTS: The genotype and allele frequencies of rs1546124 (odds ratio [OR], 2.30; 95% confidence interval [CI], 1.58-3.34; p = 1 × 10(-5) ) and rs4783099 (OR, 0.73; 95% CI, 0.54-1.00; p = 0.05) were different in NSCLP patients compared with controls. Furthermore, the CC genotype at rs1546124 was associated with increased risk for cleft lip with or without cleft palate (CL/P; OR, 2.11; 95% CI, 1.41-3.15; p(correct) = 1.5 × 10(-4) ) and for cleft palate only (CPO; OR, 2.93; 95% CI, 1.69-5.07; p(correct) = 5.4 × 10(-4) ), whereas the T allele of rs4783099 was associated with decreased risk for CPO. Further gender stratification showed that the statistical association of these two loci is mainly in the male patients, and not in female patients. CONCLUSION: Our results suggest that the CRISPLD2 gene contributes to the etiology of NSCLP in the Northwestern Chinese population. SNP rs1546124 is significantly related to NSCLP, associated with both CL/P and CPO groups, and SNP rs4783099 is significantly associated with CPO.


Assuntos
Alelos , Moléculas de Adesão Celular/genética , Fenda Labial/genética , Fissura Palatina/genética , Frequência do Gene/genética , Genótipo , Fatores Reguladores de Interferon/genética , Polimorfismo de Nucleotídeo Único , Adolescente , Adulto , Povo Asiático , Estudos de Casos e Controles , Criança , Pré-Escolar , China/epidemiologia , Fenda Labial/epidemiologia , Fissura Palatina/epidemiologia , Feminino , Humanos , Lactente , Masculino , Fatores de Risco
19.
World J Clin Cases ; 9(17): 4388-4394, 2021 Jun 16.
Artigo em Inglês | MEDLINE | ID: mdl-34141805

RESUMO

BACKGROUND: Primary intratracheal schwannoma is an extremely rare type of benign airway tumor, especially in adolescents. The presenting symptoms are typically prolonged cough and wheezing that can be misdiagnosed as asthma in adolescent patients. CASE: A 16-year-old adolescent girl admitted to a local hospital with symptoms of an irritating cough and wheezing was diagnosed with bronchial asthma and treated with budesonide and formoterol. Over the next year, the patient's wheezing and coughing symptoms gradually worsened and the antiasthma treatment was ineffective. One week prior to this admission, the patient developed dyspnea after catching a cold and was transferred to our hospital with a diagnosis of severe asthma. However, chest computed tomography and bronchoscopy showed a mass in the trachea. Primary intratracheal schwannoma was diagnosed by biopsy. Her symptoms were relieved by endoscopic resection by electrosurgical snaring combined with argon plasma coagulation. No relapse occurred during an 18 mo follow-up. CONCLUSION: Primary intratracheal schwannoma should be considered in the differential diagnosis in adolescents with recurrent asthma-like attacks.

20.
Sheng Wu Gong Cheng Xue Bao ; 37(8): 2967-2975, 2021 Aug 25.
Artigo em Chinês | MEDLINE | ID: mdl-34472313

RESUMO

Online courses are an indispensable part of medical teaching in the new era. Online courses have good prospects, although also with certain problems in practice. As an important basic medical course, medical genetics has both basic theoretical knowledge and clinical cases, involving basic principles and the latest developments. A single online course or offline teaching model cannot meet the needs of subject development and training a new generation of medical professionals. Therefore, actively exploring the online and offline hybrid teaching model is one of the important topics in the current medical teaching reform.


Assuntos
Genética Médica
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA