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BACKGROUND AND AIM: The incidence of rectal neuroendocrine tumors (R-NETs) has increased in recent years. However, the predictors of lymph node (LN) metastasis and clinical outcomes, particularly following endoscopic treatment, remain unclear. Our study aims to elucidate the potential risk factors for LN metastasis and the clinical outcomes of patients undergoing endoscopic resection in R-NETs. METHODS: A total of 128 patients with R-NETs were retrospectively identified from a single center between June 2012 and December 2021. Risk factors for LN metastasis in R-NETs were analyzed using multivariate analysis. Additionally, the clinical outcomes of endoscopic resections in patients with R-NETs were assessed. RESULTS: In our study, 128 patients with R-NETs were retrospectively analyzed. The risk factors for LN metastasis determined by multivariate analysis were tumor size and patient age at diagnosis. Among the 111 patients treated with endoscopic resection and with tumor margin records available, 92 underwent endoscopic submucosal dissection (ESD) and 19 underwent conventional endoscopic mucosal resection (EMR). There was no significant difference between the two groups regarding the positive rates of basal tumor margin and lateral tumor margin. Furthermore, 64 patients who underwent endoscopic resection for R-NETs were successfully followed up (range, 1.64-76.71 months), during which only one patient developed local recurrence. CONCLUSION: Tumor size and age at diagnosis were predictors for LN metastasis of R-NETs. Both ESD and EMR are alternative techniques with a favorable prognosis for R-NETs, even in cases with positive resection margins. However, due to the relatively small number of patients undergoing EMR and missing data in follow-up protocols, definitive conclusions require further large-scale studies.
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Currently, the number of pregnant women at high risk for gestational diabetes mellitus (GDM) and using assisted reproductive technology (ART) is increasing. The present study aims to explore the relationship between ART and physical activity in Chinese pregnant women at high risk for GDM in early pregnancy. A cross-sectional study was conducted in a regional teaching hospital in Guangzhou, China, between July 2022 and March 2023. Three hundred fifty-five pregnant women at high risk for GDM in early pregnancy completed the Chinese version of the Pregnant Physical Activity Questionnaire (PPAQ), the Pregnancy Physical Activity Knowledge Scale, the Pregnancy Physical Activity Self-Efficacy Scale, the Pregnancy Physical Activity Social Support Scale, and a sociodemographic and obstetric characteristics data sheet. Compared to women who conceived naturally, women who used ART were more likely to be 35 years or older, unemployed, primigravidae, and to have intentionally planned their pregnancies. Women who used ART had significantly lower levels of physical activity and self-efficacy compared to their counterparts who conceived naturally. Over half (55.6%) of women who used ART reported being physically inactive, and those with lower self-efficacy, as well as the unemployed, were significantly more likely to be inactive. Physical inactivity is a critical clinical issue among women who use ART, especially in the context of GDM risk. Future research should develop and test physical activity programs, including enhancing physical activity self-efficacy for women who use ART. Patient or public contribution: In this study, survey questionnaires were completed by participants among Chinese pregnant women at high risk for GDM in early pregnancy.
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Diabetes Gestacional , Gravidez , Feminino , Humanos , Gestantes , Estudos Transversais , Técnicas de Reprodução Assistida , Exercício FísicoRESUMO
China's nitrogen oxide (NOx) emissions have undergone significant changes over the past few decades. However, nonfossil fuel NOx emissions are not yet well constrained in urban environments, resulting in a substantial underestimation of their importance relative to the known fossil fuel NOx emissions. We developed an approach using machine learning that is accurate enough to generate a long time series of the nitrogen isotopic composition (δ15N) of atmospheric nitrate using high-level accuracies of air pollutants and meteorology data. Air temperature was found to be the critical driver of the variation of nitrate δ15N at daily resolution based on this approach, while significant reductions of aerosol and its precursor emissions played a key role in the change of nitrate δ15N on the yearly scale. Predictions from this model found a significant decrease in nitrate δ15N in Chinese megacities (Beijing and Guangzhou as representative cities in the north and south, respectively) since 2013, implying an enhanced contribution of nonfossil fuel NOx emissions to nitrate aerosols (up to 22%-26% in 2021 from 18%-22% in 2013 quantified by an isotope mixing model), as confirmed by the Weather Research and Forecasting model coupled with online chemistry (WRF-Chem) simulation. Meanwhile, the declining contribution in coal combustion (34%-39% in 2013 to 31%-34% in 2021) and increasing contribution of natural gas combustion (11%-14% in 2013 to 14%-17% in 2021) demonstrated the transformation of China's energy structure from coal to natural gas. This approach provides missing records for exploring long-term variability in the nitrogen isotope system and may contribute to the study of the global reactive nitrogen biogeochemical cycle.
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Poluentes Atmosféricos , Nitratos , Nitratos/análise , Gás Natural , Estações do Ano , Monitoramento Ambiental/métodos , China , Poluentes Atmosféricos/análise , Carvão Mineral/análise , Óxido Nítrico , Isótopos de Nitrogênio/análise , Aerossóis/análise , Material Particulado/análiseRESUMO
BACKGROUND: Bipolar clavicle injury is a rare injury involving any combination of dislocation and/or fracture at both ends of the clavicle. Most reports of bipolar clavicle injury have been based on a single case, and treatment of this injury remains controversial. The present study was performed to evaluate the efficacy of surgical management with internal plating for bipolar clavicle injuries. METHODS: We performed internal plating to treat seven consecutive bipolar clavicle injuries with different injury patterns from May 2013 to June 2021. A clavicle hook plate was used for five sternoclavicular joint injuries (including a revision surgery) and three acromioclavicular joint dislocations, a T plate was used for one sternoclavicular joint injury, and an anatomic plate was used for one distal clavicle fracture. At follow-up, radiographs were assessed for bone alignment, joint congruity, fracture union or malunion, and implant failure or migration. Clinical evaluation included determination of the Disability of the Arm, Shoulder, and Hand (DASH) score; Constant-Murley score; visual analog scale (VAS) score; and complications. RESULTS: The patients were regularly followed up after the operation, and functional parameters were assessed over time. At a mean follow-up of 28.1 ± 22.0 months, each fracture had solid bone union, and each dislocation showed no sign of recurrent instability. The mean shoulder forward flexion was 159.3° ± 7.9°, and the mean DASH score was 8.8 ± 5.1. The mean Constant-Murley score was 88.9 ± 7.9, with six cases assessed as excellent and one case assessed as good. The mean VAS score was 1.0 ± 1.5, and the mean patient satisfaction score was 9.3 ± 0.8. No complications occurred, and each patient was able to resume their preinjury daily activity and was highly satisfied with their treatment. CONCLUSIONS: In the present study, internal plating for bipolar clavicle injury allowed early mobilization and resulted in good joint function. We recommend fixation of the more severely affected side first because the other side may be passively reduced and acquire stability once the more severely affected side has been fixed. Internal fixation of the other end may therefore be unnecessary unless residual instability exists.
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Fraturas Ósseas , Luxações Articulares , Luxação do Ombro , Humanos , Clavícula/diagnóstico por imagem , Clavícula/cirurgia , Clavícula/lesões , Fixação Interna de Fraturas/efeitos adversos , Fixação Interna de Fraturas/métodos , Fraturas Ósseas/diagnóstico por imagem , Fraturas Ósseas/cirurgia , Luxações Articulares/diagnóstico por imagem , Luxações Articulares/cirurgia , Luxação do Ombro/cirurgia , Placas Ósseas , Resultado do TratamentoRESUMO
MOTIVATION: Single-cell DNA methylation sequencing detects methylation levels with single-cell resolution, while this technology is upgrading our understanding of the regulation of gene expression through epigenetic modifications. Meanwhile, almost all current technologies suffer from the inherent problem of detecting low coverage of the number of CpGs. Therefore, addressing the inherent sparsity of raw data is essential for quantitative analysis of the whole genome. RESULTS: Here, we reported CaMelia, a CatBoost gradient boosting method for predicting the missing methylation states based on the locally paired similarity of intercellular methylation patterns. On real single-cell methylation datasets, CaMelia yielded significant imputation performance gains over previous methods. Furthermore, applying the imputed data to the downstream analysis of cell-type identification, we found that CaMelia helped to discover more intercellular differentially methylated loci that were masked by the sparsity in raw data, and the clustering results demonstrated that CaMelia could preserve cell-cell relationships and improve the identification of cell types and cell subpopulations. AVAILABILITY AND IMPLEMENTATION: Python code is available at https://github.com/JxTang-bioinformatics/CaMelia. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
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Until now, there has been a lack of knowledge regarding the vertical profiles of nitrate formation in the urban boundary layer (BL) based on triple oxygen isotopes. Here, we conducted vertical measurements of the oxygen anomaly of nitrate (Δ17O-NO3-) on a 325 m meteorological tower in urban Beijing during the winter and summer. The simultaneous vertical measurements suggested different formation mechanisms of nitrate aerosols at ground level and 120 and 260 m in the winter due to the less efficient vertical mixing under stable atmospheric conditions. Particularly, different chemical processes of nitrate aerosols at the three heights were found between clean days and polluted days in the winter. On clean days, nocturnal chemistry (NO3 + HC and N2O5 uptake) contributed to nitrate production equally with OH/H2O + NO2 at ground level, while it dominated aloft (contributing 80% of nitrate production at 260 m), due to the higher aerosol liquid water content and O3 concentration there. On polluted days, nocturnal reactions dominated the formation of nitrate at the three heights. Particularly, the contribution of the OH/H2O + NO2 pathway to nitrate production increased from the ground level to 120 m might be attributed to the hydrolysis of NO2 to HONO and then further photolysis to OH radicals in the day. In contrast, the proportion of N2O5 + H2O decreased at 260 m, likely due to the low relative humidity aloft that inhibited the N2O5 hydrolysis reactions in the residual layer. Our results highlighted that the differences between meteorology and gaseous precursors could largely affect particulate nitrate formation at different heights within the polluted urban BL.
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Poluentes Atmosféricos , Nitratos , Aerossóis , Poluentes Atmosféricos/análise , Pequim , China , Monitoramento Ambiental , Nitratos/análise , Dióxido de Nitrogênio , Óxidos de Nitrogênio/análise , Compostos Orgânicos , Isótopos de Oxigênio/análise , Estações do AnoRESUMO
Formation pathways and sources of atmosphere nitrate (NO3-) have attracted much attention as NO3- had detrimental effects on Earth's ecosystem and climate change. Here, we measured nitrogen (δ15N-NO3-) and oxygen (δ18O-NO3- and Δ17O-NO3-) isotope compositions in nitrate aerosols at the Qomolangma station (QOMS) over the Himalayan-Tibetan Plateau (HTP) to quantify the formation mechanisms and emission sources of nitrate at the background site. At QOMS, the enhanced NO3- concentrations were observed in the springtime. The average δ15N-NO3-, δ18O-NO3-, and Δ17O-NO3- values were 0.4 ± 4.9, 64.7 ± 11.5 and 27.6 ± 6.9, respectively. Seasonal variations of isotope ratios at QOMS can be explained by the different emissions and formation pathways to nitrate. The average fractions of NO2 + OH and N2O5 + H2O to nitrate production were estimated to be 43 and 52%, respectively, when the NO3 + hydrocarbon (HC)/dimethyl sulfide (DMS) (NO3 + HC/DMS) pathway was assumed to be 5%. Using stable isotope analysis in the R (SIAR) model, the relative contributions of biomass burning (BB), biogenic soil emission, traffic, and coal combustion to nitrate were estimated to be 28, 25, 24, and 23%, respectively, on yearly basis. By FLEXible PARTicle (FLEXPART) dispersion model, we highlighted that NOx from BB emission over South Asia that had undergone N2O5 + H2O processes enhanced the nitrate concentrations in the springtime over the HTP region.
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Nitratos , Nitrogênio , Aerossóis , China , Ecossistema , Monitoramento Ambiental , Nitratos/análise , Nitrogênio/análise , Isótopos de Nitrogênio/análise , Isótopos de Oxigênio/análise , TibetRESUMO
BACKGROUND: The computational prediction of methylation levels at single CpG resolution is promising to explore the methylation levels of CpGs uncovered by existing array techniques, especially for the 450 K beadchip array data with huge reserves. General prediction models concentrate on improving the overall prediction accuracy for the bulk of CpG loci while neglecting whether each locus is precisely predicted. This leads to the limited application of the prediction results, especially when performing downstream analysis with high precision requirements. RESULTS: Here we reported PretiMeth, a method for constructing precise prediction models for each single CpG locus. PretiMeth used a logistic regression algorithm to build a prediction model for each interested locus. Only one DNA methylation feature that shared the most similar methylation pattern with the CpG locus to be predicted was applied in the model. We found that PretiMeth outperformed other algorithms in the prediction accuracy, and kept robust across platforms and cell types. Furthermore, PretiMeth was applied to The Cancer Genome Atlas data (TCGA), the intensive analysis based on precise prediction results showed that several CpG loci and genes (differentially methylated between the tumor and normal samples) were worthy for further biological validation. CONCLUSION: The precise prediction of single CpG locus is important for both methylation array data expansion and downstream analysis of prediction results. PretiMeth achieved precise modeling for each CpG locus by using only one significant feature, which also suggested that our precise prediction models could be probably used for reference in the probe set design when the DNA methylation beadchip update. PretiMeth is provided as an open source tool via https://github.com/JxTang-bioinformatics/PretiMeth.
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Metilação de DNA , Epigenômica/métodos , Modelos Genéticos , Ilhas de CpG/genética , Loci Gênicos/genética , Genoma/genética , Humanos , Modelos Logísticos , Neoplasias/genética , Análise de Sequência de DNARESUMO
Carbon content constitutes a major fraction of atmospheric particulate matter (PM) and directly influences the earth's climate and human health. The stable carbon isotope ratios (δ13C) can be used to track potential sources and atmospheric processes of carbonaceous aerosols. Previously, determination of δ13C was always conducted in offline carbonaceous aerosol samples. The poor time-resolution results cannot provide information regarding the temporal evolution of δ13C at a short-time scale. In this study, we developed a new system for online measurements of δ13C in atmospheric carbonaceous aerosols by combining a semicontinuous organic carbon/elemental carbon (OC/EC) analyzer and online cavity ring-down spectroscopy (CRDS) (OC/EC analyzer-CRDS). To provide better stability in the determination of δ13C, a carrier gas with CO2 (â¼200 ppm) in "balance gas" was used, and Keeling analysis was employed to separate the δ13C signal of the sample from background CO2 gas. Our results showed that the accuracy and absolute precision of the δ13C measurements by the OC/EC analyzer-CRDS system were better than 0.1 and 0.5, respectively, for the samples containing carbon content more than 5 µg. Furthermore, we employed this system to monitor δ13C (δ13C-TC) in particulate total carbon (TC) with a time resolution of 2-4 h over Beijing in late summer and early autumn, 2019. During the sampling period, the TC concentrations varied from 0.1 to 12.0 µg m-3 with a mean value of 6.0 ± 2.4 µg m-3. The δ13C-TC ranged from -28.2 to -24.2 (mean value was -25.9 ± 0.9) without significant diurnal variations, suggesting similar contributing sources to TC. Comparing the δ13C signatures of different emissions, we found that liquid fuels and primary and secondary C3 plants were likely the dominant sources of particulate TC. Finally, we found that atmospheric heavy precipitation washed out the aged aerosols from the polluted air, resulting in significant depletion (â¼2.4) of δ13C-TC in the atmosphere. This paper described a novel system for conducting online measurements of δ13C in atmospheric carbonaceous aerosols and provided us information to better understand the temporal evolution of emission sources and atmospheric processes of carbonaceous aerosols.
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Atmosfera/química , Isótopos de Carbono/análise , Isótopos de Carbono/química , Análise Espectral/métodos , AerossóisRESUMO
RATIONALE: Fentanyl and its analogues play important roles in the hospital and clinic setting as anesthetics. However, illicitly manufactured fentanyl as well as the new psychoactive substances (NPS) account for 30% of all deaths in the United States. Since fentanyl derivatives and NPS are designed to produce similar effects, their related substances are similar or even have the same active groups. A comprehensive analysis of the related substances of alfentanil hydrochloride can provide a basis for the identification and supervision of fentanyl derivatives and NPS. METHODS: A liquid chromatography/quadrupole time-of-flight tandem mass spectrometry (LC/QTOF-MS/MS) method was developed for the separation and characterization of related substances in alfentanil hydrochloride. Degradation studies were conducted according to the ICH-prescribed stress conditions. The compounds were identified mainly through positive electrospray ionization QTOF high-resolution mass spectrometric measurements of the accurate masses of the precursor and product ions and their calculated elemental compositions. Their formation mechanisms were also discussed. RESULTS: Seventeen related substances were detected in alfentanil hydrochloride and its stressed samples. Among them, nine were process-related substances and the other eight were degradation products. The stress study results demonstrated that alfentanil hydrochloride was unstable under acid, alkaline, and oxidative stress conditions, while relatively stable under dry photolytic and thermal stress conditions. Alfentanil hydrochloride was most susceptible for degradation at the N-phenylpropanamide and piperidine sites. CONCLUSIONS: Process-related alfentanil hydrochloride compounds are useful for determination of synthetic routes and entangling of fentanyl analogues. The stress study results can provide a sound scientific basis for the waste water monitoring of alfentanil. These results are important for routine quality control in the manufacturing and storage of alfentanil hydrochloride, as well as for drug enforcement of fentanyl and its analogues.
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Alfentanil/análise , Alfentanil/química , Cromatografia Líquida/métodos , Espectrometria de Massas em Tandem/métodos , Detecção do Abuso de SubstânciasRESUMO
BACKGROUND: Schizophrenia patients with a metabolically abnormal obese (MAO) phenotype have been shown poor cardiovascular outcomes, but the characteristics of their current psychiatric symptoms have not been characterized. This study mainly explored the psychiatric symptoms of schizophrenia patients with the MAO phenotype. METHODS: A total of 329 patients with schizophrenia and 175 sex- and age-matched people without schizophrenia from Anhui Province in China were enrolled. The Positive and Negative Syndrome Scale (PANSS) was used to evaluate the mental symptoms of the schizophrenia patients. The MAO phenotype was defined as meeting 1-4 metabolic syndrome criteria (excluding waist circumference) and having a body mass index (BMI) ≥ 28 kg/m2. And, metabolically healthy normal-weight (MHNW) phenotype was defined as meeting 0 criteria for metabolic syndrome and 18.5 ≤ BMI < 24 kg/m2. RESULTS: Overall, 15.8% of the schizophrenia patients and 9.1% of the control group were consistent with the MAO phenotype, and the prevalence of MAO in the schizophrenia group was higher than that in the control group. Among the patients with schizophrenia, the MAO group had lower negative factor, cognitive factor and total PANSS scores than the MHNW group. However, when confounding factors were controlled, only the negative factor remained lower significantly. CONCLUSION: We found that schizophrenia patients with the MAO phenotype had reduced negative symptoms, which may indicate an internal mechanism linking metabolic disorders and negative symptoms. TRIAL REGISTRATION: This study was registered in the China Clinical Trial Registration Center (No. chiCTR 1,800,017,044 ).
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Síndrome Metabólica , Esquizofrenia , Índice de Massa Corporal , China , Humanos , Obesidade/complicações , Fenótipo , Fatores de Risco , Esquizofrenia/diagnósticoRESUMO
Chitinase is an important enzyme for many physiological processes. Mytichitin-1 is a chitinase-like protein in Mytilus coruscus, and its C-terminal 55-AA fragment (mytichitin-CB) is a novel antimicrobial peptide, suggesting a new immune process in which chitinase is involved; mytichtin-1 may have various forms in the different biological processes of M. coruscus. Thus, the study of mytichitin-1 will be helpful for understanding the mechanism of mussel immune biology and the functional diversity of chitinase. In this study, mytichitin-1 was recombinantly expressed with different lengths, full-length mytichtin-1 (rMchi-F) and the N-terminal region (rMchi-N) in Escherichia coli BL21 with codon optimization. The results of SDS-PAGE, Western blotting, and mass spectrometry confirmed that the two forms of mytichitin-1 had been successfully recombinant expressed with a yield of 40â¯mg purified enzyme per L culture. In addition, the 55-AA fragment of mytichitin-CB was chemically synthesized (sMchi-CB). After purification and oxidation, the functions of the three protein products were analysed, including chitin degradation, chitin binding, and antimicrobial activities. Both rMchi-F and rMchi-N displayed enzymatic activity with the optimum pH of 4.0 and optimum temperature of 40⯰C, and rMchi-N showed a stronger activity than rMchi-F. Enzymatic activities of rMchi-F and rMchi-N were stimulated by the metal ions Fe2+, Ba2+, and Na+ and partially inhibited by Cu2+, Ni2+ and Zn2+. rMchi-F, rMchi-N, and sMchi-CB had the ability to combine with colloid chitin. The antimicrobial activities of these proteins were tested against bacteria and fungi, and the results indicated the strongest activity for sMchi-CB and the weakest activity for rMchi-N. Using a prepared anti-rMchi-F polyclonal antibody, immunohistochemistry and immunoprecipitation were performed and the results revealed the location of mytichitin-1 in mantle, digestive gland and blood cells. In addition, two forms of mytichitin-1, mytichitin-CB (6 kD) and full-length mytichitin-1 (48 kD), were detected, and a 35 kD protein was identified as the third form of mytichitin-1, existing in various tissues of M. coruscus. These findings suggest that mytichitin-1 may play different roles, with at least three forms, in different M. coruscus tissues.
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Quitina/genética , Imunidade Inata/genética , Mytilus/genética , Mytilus/imunologia , Sequência de Aminoácidos , Animais , Antibacterianos/análise , Sequência de Bases , Quitina/química , Quitina/metabolismo , Escherichia coli/genética , Microrganismos Geneticamente Modificados/genética , Especificidade de ÓrgãosRESUMO
OBJECTIVE: The purpose of the present study was to longitudinally investigate the association of insertion/deletion (I/D) polymorphism at angiotensin-converting enzyme gene (ACE) with depression in Chinese adolescents experiencing the 2008 Wenchuan earthquake. METHODS: Variants of ACE I/D were identified by polymerase chain reaction and verified by DNA sequencing. Depression symptoms were assessed by the Beck Depression Inventory (BDI) among high school students at 6, 12 and 18 months after the earthquake. RESULTS: The D-allele carriers had lower depression prevalence than II homozygotes at 6, 12 and 18 months after the earthquake only in females, but not in males. Meanwhile, BDI scores were reduced in the female D-allele carriers when compared with those in the female II homozygotes at 6 and12 months after the earthquake. In addition, ACE I/D was found to be the predictors of BDI scores and depression prevalence at 6 and 12 months after the earthquake. CONCLUSIONS: These results suggest that the association of ACE I/D with depression are longitudinally different in Chinese Han adolescents after the 2008 Wenchuan earthquake. The D allele may be associated with reduced depression prevalence and severity in female adolescents in the early stage of depression rehabilitation during the follow-up.
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Depressão , Desastres , Terremotos , Peptidil Dipeptidase A/genética , Alelos , China/epidemiologia , Depressão/epidemiologia , Depressão/etiologia , Depressão/genética , Depressão/fisiopatologia , Feminino , Predisposição Genética para Doença , Humanos , Estudos Longitudinais , Masculino , Polimorfismo Genético , Prevalência , Índice de Gravidade de Doença , Fatores SexuaisRESUMO
Researches on CRISPR/Cas (clustered regularly interspaced short palindromic repeats/CRISPR-associated genes) systems, that are adaptive immunity systems encoded by prokaryotes, have promoted the development of new genome-editing tools. Bacteriophages are not only the driving elements for the evolution of prokaryotes' CRISPR arrays, but also the targets of the CRISPR/Cas systems. Studies on functional genomics of bacteriophages have been lagging behind the discovery of new phage strains and the sequencing of their genomes. CRISPR/Cas systems-driven genome engineering of bacteriophages provides a novel approach for bacteriophage functional genomics. This review comments on a few profound cases of genome engineering of bacteriophages that employed the CRISPR/Cas systems, and compares multiple procedures illustrating common or distinct features as well as advantages and disadvantages underlying each procedure. We design new applications of the CRISPR/Cas systems coupled with bacteriophage recombination systems, discuss their potential constraints, and offer suggestions for each option.
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Bacteriófagos/genética , Sistemas CRISPR-Cas , Engenharia Genética , Genoma Viral , Repetições Palindrômicas Curtas Agrupadas e Regularmente EspaçadasRESUMO
Indirect evidences suggested associations of estrogen receptor alpha (ESR1) with post-traumatic stress disorder (PTSD). However, the relationship between rs9340799 on ESR1 gene and PTSD has not been reported yet. The present study was to explore the longitudinal changes of prevalence and severity of PTSD in adolescents with different genotypes of rs9340799 after the 2008 Wenchuan earthquake. Social-environmental factors were collected by questionnaires in 465 high school students. Variants of rs9340799 were determined by polymerase chain reaction-restriction fragment length polymorphism analyses and verified by DNA sequencing. PTSD symptoms were assessed by PTSD Checklist-Civilian Version (PCL-C) at 6, 12, and 18 months after the earthquake. The female AA homozygotes had a trend of higher prevalence of PTSD and significantly higher PCL-C scores than the female G allele carriers at 6 months after the earthquake. The female students had higher prevalence of PTSD and higher PCL-C scores than the male subjects at 6 months in the AA homozygotes, but not in the G allele carriers. Consecutive decreases in PCL-C scores were observed only in the female AA homozygotes. Only in the female, the AA genotype was the risk factor and predictor of PCL-C scores at 6 months. Potential factors of PTSD prevalence and predictors of PCL-C scores were different between the AA homozygotes and G allele carriers at different time during the follow-up. These results suggest gene-environment interactions may occur among rs9340799 and social-environmental factors, and influence the development and natural rehabilitation of PTSD in the course after stressed by the earthquake.
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Receptor alfa de Estrogênio/genética , Interação Gene-Ambiente , Transtornos de Estresse Pós-Traumáticos/genética , Adolescente , Povo Asiático/genética , China/epidemiologia , Terremotos , Receptor alfa de Estrogênio/metabolismo , Etnicidade/genética , Feminino , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Humanos , Estudos Longitudinais , Masculino , Polimorfismo de Nucleotídeo Único , Prevalência , Transtornos de Estresse Pós-Traumáticos/epidemiologia , Transtornos de Estresse Pós-Traumáticos/metabolismo , Adulto JovemRESUMO
A girl aged 5 months was admitted due to developmental delay. Physical examination showed delayed physical development, unusual facies (microcephalus, hypertelorism, low-set ears, wide nasal bridge, and short philtrum), and an absence of the labium minus at one side. The peripheral blood karyotype was 46,XX,r(13)(p11q33)[82]/45,XX,-13[10]/46,XX,r(13;13)(p11q33;p11q33)[8], and array-based comparative genomic hybridization showed an 87.5â Mb duplication in 13q11q33.2 region and an 8.2â Mb deletion in 13q33.2q34 region. Fluorescence in situ hybridization showed terminal depletion of the long arm of the ring chromosome 13. The girl was diagnosed with ring 13 syndrome. This syndrome has various clinical phenotypes and is closely associated with the amount and site of the loss of genetic material in chromosomal band and different rates of chimerism.
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Cromossomos Humanos Par 13/genética , Deleção Cromossômica , Hibridização Genômica Comparativa , Feminino , Humanos , Lactente , Fenótipo , Cromossomos em Anel , Trissomia/genéticaRESUMO
OBJECTIVE: Hepatic (biliary) cystic tumor (HBCT) is a rare focal cystic liver lesion, which has been rarely described in the literature. In our current multicenter, retrospective study, we aimed to analyze contrast enhanced ultrasound (CEUS) features and its diagnostic performance in histologically proved HBCT. MATERIAL AND METHODS: Twenty-three patients with single HBCT were retrospectively analyzed. Histologically, 17 (73.9%) were benign hepatic (biliary) cystadenoma (HBCA), 6 (26.1%) were hepatic (biliary) cystadenocarcinoma (HBCAC). All CEUS examinations were assessed by two independent radiologists in consensus. Criteria of CEUS imaging evaluation included the contrast enhancement pattern of lesion (hypoenhancing, hyperenhancing, isoenhancing in comparison to the surrounding liver parenchyma) during the arterial, portal venous and late phases. RESULTS: After injection of ultrasound contrast agents, most of the HBCTs (78.3%, 18/23) had typical honeycomb enhancement pattern of the cystic wall, septa or mural nodules. Comparing between HBCA and HBCAC, hyperenhancement of the honeycomb septa during the arterial phase was more common in HBCA (p = .047). However, hypoenhancement during the portal venous and late phases was the characteristic of HBCAC (p = .041). CONCLUSIONS: The EFSUMB algorithm for CEUS for characterization of solid focal liver lesions is also applicable to HBCT. CEUS evaluation can avoid further diagnostic investigations or invasive biopsy procedure.
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Cistadenocarcinoma/diagnóstico por imagem , Cistadenoma/diagnóstico por imagem , Aumento da Imagem/métodos , Neoplasias Hepáticas/diagnóstico por imagem , Ultrassonografia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Meios de Contraste/administração & dosagem , Cistadenocarcinoma/patologia , Cistadenoma/patologia , Feminino , Humanos , Fígado/patologia , Neoplasias Hepáticas/patologia , Masculino , Pessoa de Meia-Idade , Veia Porta/patologia , Estudos Retrospectivos , Adulto JovemRESUMO
Shear wave elastography (SWE) has been developed to non-invasively estimate liver stiffness. Different techniques are available and they are described in detail in the EFSUMB guidelines on elastography. However, there are only a few published studies investigating normal ranges in healthy subjects by comparing different equipment and analysing influencing factors. In the present review, we summarize the impact factors on liver stiffness measurement (LSM) using SWE, report its reproducibility, and define normal range tables of LSM in healthy subjects for clinical practice according to the published literature.
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Módulo de Elasticidade/fisiologia , Técnicas de Imagem por Elasticidade , Interpretação de Imagem Assistida por Computador , Fígado/diagnóstico por imagem , Fígado/fisiologia , Medicina Baseada em Evidências , Humanos , Valores de Referência , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Resistência ao Cisalhamento/fisiologiaRESUMO
BACKGROUND: It is unclear about the change and risk factors of depression among adolescent survivors after earthquake. AIMS: This study aimed to explore the change of depression, and identify the predictive factors of depression among adolescent survivors after the 2008 Wenchuan earthquake in China. METHODS: The depression among high school students at 6, 12 and 18 months after the Wenchuan earthquake were investigated. The Beck Depression Inventory (BDI) was used in this study to assess the severity of depression. RESULTS: Subjects included 548 student survivors in an affected high school. The rates of depression among the adolescent survivors at 6-, 12- and 18-month after the earthquake were 27.3%, 42.9% and 33.3%, respectively, for males, and 42.9%, 61.9% and 53.4%, respectively, for females. Depression symptoms, trauma-related self-injury, suicidal ideation and PTSD symptoms at the 6-month follow-up were significant predictive factors for depression at the 18-month time interval following the earthquake. CONCLUSIONS: This study highlights the need for considering disaster-related psychological sequela and risk factors of depression symptoms in the planning and implementation of mental health services. Long-term mental and psychological supports for victims of natural disasters are imperative.
Assuntos
Depressão/epidemiologia , Desastres , Terremotos , Sobreviventes/psicologia , Adolescente , China , Feminino , Seguimentos , Humanos , Masculino , Escalas de Graduação Psiquiátrica , Fatores de Risco , Sobreviventes/estatística & dados numéricosRESUMO
OBJECTIVE: To study the effect of obesity on pulmonary function in newly diagnosed asthmatic children of different age groups. METHODS: Two hundred and ninety-four children with newly diagnosed asthma were classified into preschool-age (<6 years) and school-age (6 to 12.5 years) groups. They were then classified into obese, overweight, and normal-weight subgroups based on their body mass index (BMI). All the children underwent pulmonary function tests, including large airway function tests [forced vital capacity (FVC%) and forced expiratory volume in one second (FEV1%)] and small airway function tests [maximal expiratory flow at 25% of vital capacity (MEF25%), maximal expiratory flow at 50% of vital capacity (MEF50%), and maximal expiratory flow at 75% of vital capacity (MEF75%)]. RESULTS: The school-age group showed lower FEV1%, MEF25%, and MEF50% than the preschool-age group (P<0.05) after adjustment for sex and BMI. The normal-weight children in the school-age group had lower FEV1%, MEF25%, and MEF50% compared with their counterparts in the preschool-age group (P<0.05). The overweight children in the school-age group showed lower FVC% and MEF50% than those in the preschool-age group. However, all the pulmonary function parameters showed no significant differences between the obese children in the preschool-age and school-age groups. In the preschool-age group, FVC%, FEV1%, and MEF75% of the obese children were lower than those of the normal-weight children. In the school-age group, only FVC% and FEV1% showed differences between the obese and normal-weight children (P<0.05). CONCLUSIONS: The effect of obesity on the pulmonary function varies with age in children with asthma, and the effect is more obvious in those of preschool age.