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1.
BMC Cardiovasc Disord ; 24(1): 132, 2024 Feb 29.
Artigo em Inglês | MEDLINE | ID: mdl-38424531

RESUMO

BACKGROUND: There is a paucity of Chinese studies evaluating the quality of life (QoL) in young acute type A aortic dissection (AAAD) patients with Marfan syndrome. METHODS: Young adult AAAD patients (younger than 45 years old) underwent surgical treatment at our institution from January 2017 to December 2020 were consecutive enrolled. The hospital survivors completed 1 year of follow up. Patients were divided into two groups according to the presence or absence of Marfan syndrome (MFS). A 1:1 propensity score matching (PSM) with a caliper 0.2 was conducted to balance potential bias in baseline. The follow-up data were analyzed primarily for change in quality of life and anxiety status. RESULTS: After PSM, 32 comparable pairs were matched. The baseline data were comparable and postoperative complications were similar between groups. In terms of SF-36 scale, the role physical, bodily pain, role emotional and mental health subscales were no significantly improved in MFS patients over time. At 1 year after discharged, the subscale of mental health and bodily pain were significantly lower in the MFS group than in the non-MFS group. In terms of HADS assessments, the level of anxiety in MFS patients was significantly higher than in non-MFS patients at 1 year after discharged. CONCLUSIONS: The QoL in young AAAD patients with MFS is lower than those without MFS after surgery. This may be associated with the uncontrollable persistent chronic pain and the uncertainty and concerns for the disease's progression.


Assuntos
Dissecção Aórtica , Síndrome de Marfan , Adulto Jovem , Humanos , Pessoa de Meia-Idade , Síndrome de Marfan/complicações , Síndrome de Marfan/diagnóstico , Qualidade de Vida , Dissecção Aórtica/diagnóstico por imagem , Dissecção Aórtica/cirurgia , Dor , China
2.
J Clin Hypertens (Greenwich) ; 26(3): 251-261, 2024 03.
Artigo em Inglês | MEDLINE | ID: mdl-38341621

RESUMO

Acute type A aortic dissection (AAAD) has a high probability of postoperative adverse outcomes (PAO) after emergency surgery, so exploring the risk factors for PAO during hospitalization is key to reducing postoperative mortality and improving prognosis. An artificial intelligence approach was used to build a predictive model of PAO by clinical data-driven machine learning to predict the incidence of PAO after total arch repair for AAAD. This study included 380 patients with AAAD. The clinical features that are associated with PAO were selected using the LASSO regression analysis. Six different machine learning algorithms were tried for modeling, and the performance of each model was analyzed comprehensively using receiver operating characteristic curves, calibration curve, precision recall curve, and decision analysis curves. Explain the optimal model through Shapley Additive Explanation (SHAP) and perform an individualized risk assessment. After comprehensive analysis, the authors believe that the extreme gradient boosting (XGBoost) model is the optimal model, with better performance than other models. The authors successfully built a prediction model for PAO in AAAD patients based on the XGBoost algorithm and interpreted the model with the SHAP method, which helps to identify high-risk AAAD patients at an early stage and to adjust individual patient-related clinical treatment plans in a timely manner.


Assuntos
Dissecção Aórtica , Hipertensão , Humanos , Inteligência Artificial , Aprendizado de Máquina , Algoritmos , Dissecção Aórtica/diagnóstico , Dissecção Aórtica/cirurgia
3.
Water Environ Res ; 96(2): e11004, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38369667

RESUMO

Microbial communities living in different environments can affect the transformation of nitrogen and phosphorus in sewage pipes. Two different environments were simulated to investigate the differences in the transformation of nitrogen and phosphorus under different microbial communities in the pipe. Results showed that the concentration of nitrogen and phosphorus changed greatly in the first 25-33 days and the first 21 days, respectively, and then remained stable. The decrease in amino acid nitrogen (AAN) concentration and the increase in ammonia nitrogen (NH4 + -N) concentration in the sediments were evident in the contrast group. The concentrations of total phosphorus (TP), dissolved total phosphorus (DTP), and dissolved reactive phosphorus (DRP) in the overlying water and interstitial water decreased, and that of TP in the sediment increased. Some microorganisms in the sediments of both groups are related to the transformation of nitrogen and phosphorus, such as Clostridium_sensu_stricto_1, Sporacetigenium, Norank_f__Anaerolineaceae, Norank_f__norank_o__PeM15, and Caldisericum. The relative abundance of these microorganisms was remarkably differed between the two groups, which partly caused the difference in nitrogen and phosphorus transformation among overlying water, interstitial water, and sediment in the two environments. PRACTITIONER POINTS: The concentration of N and P changed greatly in the first 20-30 days. AAN and NH4 + -N in sediments had greater concentration variation in contrast group. In two groups, TP, DTP, and DRP of water decreased, and TP of sediment increased. Microbe related to the transformation of N and P differed between the two groups.


Assuntos
Microbiota , Poluentes Químicos da Água , Esgotos , Fósforo/análise , Nitrogênio/análise , Sedimentos Geológicos/química , Poluentes Químicos da Água/química , Água , China
4.
Water Environ Res ; 96(1): e10976, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38225832

RESUMO

In this work, the transformation law of nitrogen in sediment-water system under different flow rates and wastewater concentrations were investigated in a simulated sewage pipeline system. Results showed that the different flow rates and wastewater concentrations in the pipeline caused differences in microbial community in sediments and nitrogen transformation. When the flow rate increased from 0.05 to 0.2 m/s, the scouring effect was enhanced, resulting in higher concentrations of NH4 + -N and NO3 - -N in the overlying water. At 0.2 m/s, the relative abundance of Clostridium_sensu_stricto_1 in sediments was higher, resulting in a greater conversion of amino acid nitrogen (AAN) to NH4 + -N. Meanwhile, many denitrifying bacteria (Trichococcus, Dechloromonas, norank_f__norank_o__Gaiellales, Thiobacillus) had high relative abundance in the sediments, and the denitrification process was common. When the wastewater concentration was high, the nitrification reaction was great in overlying and interstitial water. Moreover, the ammoniation process was great in the sediments, and the variation flux of AAN was large (remarkably reduced). PRACTITIONER POINTS: AAN transformed to NH4 + -N in sediment under different flow rate and concentration. Scouring was enhanced at 0.2 m/s, increasing nitrogen contents in overlying water. Difference in microbial community led to more AAN conversion to NH4 + -N at 0.2 m/s. The ammoniation process was greater in sediment at a high concentration of sewage. NH4 + -N migrated from overlying water to sediment at a high concentration of sewage.


Assuntos
Esgotos , Águas Residuárias , Desnitrificação , Água , Nitrogênio/análise , Nitrificação , Bactérias
5.
J Surg Res ; 296: 66-77, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38219508

RESUMO

INTRODUCTION: The aim of this study is to develop a model for predicting the risk of prolonged mechanical ventilation (PMV) following surgical repair of acute type A aortic dissection (AAAD). METHODS: We retrospectively collected clinical data from 381 patients with AAAD who underwent emergency surgery. Clinical features variables for predicting postoperative PMV were selected through univariate analysis, least absolute shrinkage and selection operator regression analysis, and multivariate logistic regression analysis. A risk prediction model was established using a nomogram. The model's accuracy and reliability were evaluated using the area under the curve of the receiver operating characteristic curve and the calibration curve. Internal validation of the model was performed using bootstrap resampling. The clinical applicability of the model was assessed using decision curve analysis and clinical impact curve. RESULTS: Among the 381 patients, 199 patients (52.2%) experienced postoperative PMV. The predictive model exhibited good discriminative ability (area under the curve = 0.827, 95% confidence interval: 0.786-0.868, P < 0.05). The calibration curve confirmed that the predicted outcomes of the model closely approximated the ideal curve, indicating agreement between the predicted and actual results (with an average absolute error of 0.01 based on 1000 bootstrap resampling). The decision curve analysis curve demonstrated that the model has significant clinical value. CONCLUSIONS: The nomogram model established in this study can be used to predict the risk of postoperative PMV in patients with AAAD. It serves as a practical tool to assist clinicians in adjusting treatment strategies promptly and implementing targeted therapeutic measures.


Assuntos
Dissecção Aórtica , Respiração Artificial , Humanos , Reprodutibilidade dos Testes , Estudos Retrospectivos , Dissecção Aórtica/cirurgia , Nomogramas , Stents/efeitos adversos
6.
Sci Rep ; 14(1): 2304, 2024 01 27.
Artigo em Inglês | MEDLINE | ID: mdl-38280905

RESUMO

Increased sequencing depth can improve the detection rate of noninvasive prenatal testing (NIPT) for chromosome aneuploidies and copy number variations (CNVs). However, due to the technical limitations of NIPT, false-positives and false-negatives are inevitable. False-positives for aneuploidy and CNVs have been widely reported, but few missed cases have been reported. In this study, we report 3 patients missed by NIPT, which were still missed after increasing the sequencing depth. To verify the detection efficiency of the platform, the results of NIPT in 32,796 patients treated in Yulin Women and Children Health Care Hospital from 2020 to 2022 were retrospectively analyzed. Data on false-negative cases found by postnatal follow-up or amniocentesis were collected, and the sequencing data, pregnancy examination data, and postnatal follow-up results of these missed patients were summarized. Five patients missed by NIPT were found, and they were missed again by retesting or increasing the sequencing depth. Except for hypospadias found in 1 patient, ultrasonography of the other 4 patients showed no obvious abnormalities during the whole pregnancy. Our results suggest that pregnant women should be fully informed of the benefits and limitations of NIPT before undergoing the examination to avoid unnecessary medical disputes.


Assuntos
Variações do Número de Cópias de DNA , Teste Pré-Natal não Invasivo , Masculino , Criança , Gravidez , Feminino , Humanos , Estudos Retrospectivos , Aneuploidia , Amniocentese , Diagnóstico Pré-Natal
7.
J Clin Hypertens (Greenwich) ; 25(12): 1193-1201, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37964741

RESUMO

The purposes of this study were to develop and validate a nomogram for predicting postoperative transient neurological dysfunctions (TND) in patients with acute type A aortic dissection (AAAD) who underwent modified triple-branched stent graft implantation. This retrospective study developed a nomogram-based model in a consecutive cohort of 146 patients. Patient characteristics, preoperative clinical indices, and operative data were analyzed. Univariate and multivariable analyses were applied to identify the most useful predictive variables for constructing the nomogram. Discrimination and the calibration of the model was evaluated through the receiver operating characteristic curve (ROC), the Hosmer-Lemeshow goodness-of-fit test and the decision curve analysis (DCA). At the same time, to identify and compare long-term cumulative survival rate, Kaplan-Meier survival curve was plotted. The incidence rate of postoperative TND observed in our cohort were 40.9%. Supra-aortic dissection with or without thrombosis, creatinine >115 µmol and albumin <39.7 g/L, selective antegrade cerebral perfusion (SACP) time >7 min and total operation time >303 min, were confirmed as independent predictors that enhanced the likelihood of TND. Internal validation showed good discrimination of the model with under the ROC curve (AUC) of 0.818 and good calibration (Hosmer-Lemeshow test, p > .05). DCA revealed that the nomogram was clinically useful. In the long-term survival there was no significant difference between patients with or without TND history. The results showed the predict model based on readily available predictors has sufficient validity to identify TND risk in this population, that maybe useful for clinical decision-making.


Assuntos
Dissecção Aórtica , Hipertensão , Humanos , Nomogramas , Estudos Retrospectivos , Albuminas , Dissecção Aórtica/cirurgia
8.
Sci Rep ; 13(1): 19065, 2023 11 04.
Artigo em Inglês | MEDLINE | ID: mdl-37925528

RESUMO

Salt stress is one unfavorable factor of global climate change that adversely affects rice plant growth and yield. To identify novel salt-tolerant genes and new varieties of salt-tolerant rice, a better understanding of the molecular regulation mechanism of salt tolerance in rice is needed. In this study we used transcriptome analyses to examine changes in gene expression of salt-tolerant and salt-sensitive rice plants. The salt-tolerant cultivar HH11 and salt-sensitive cultivar IR29 were treated with 200 mM NaCl solution for 0 h, 6 h, 24 h and 48 h at the three leaf stage. Physiological parameters and transcriptome were measured and analyzed after each treatment. Activity of SOD and POD, as well as the MDA and protein content of the two rice cultivars generally increased with increasing time of exposure to NaCl. Meanwhile, the APX activity first increased, then decreased in both cultivars, with maximum values seen at 6 h for IR29 and at 24 h for HH11. The GR and GPX activity of HH11 were stronger than that of IR29 in response to salt stress. The H2O2 content first increased at 0-6 h, then decreased at 6-24 h, and then increased again at 24-48 h under salt stress. Compared with IR29, SOD, POD and APX activity of HH11 was more sluggish in response to salt stress, reaching the maximum at 24 h or 48 h. The MDA, H2O2 and proline content of HH11 was lower than that of IR29 under salt stress. Relative to untreated HH11 plants (0 h) and those exposed to salt for 6 h, 24 h, and 48 h (H0-H6, H0-H24 and H0-H48), 7462, 6363 and 6636, differentially expressed genes (DEGs), respectively, were identified. For IR29, the respective total DEGs were 7566, 6075 and 6136. GO and KEGG enrichment analysis showed that metabolic pathways related to antioxidative responses and osmotic balance played vital roles in salt stress tolerance. Sucrose and starch metabolism, in addition to flavonoid biosynthesis and glutathione metabolism, showed positive responses to salt stress. Expression of two SPS genes (LOC_Os01g69030 and LOC_Os08g20660) and two GST genes (LOC_Os06g12290 and LOC_Os10g38740) was up-regulated in both HH11 and IR29, whereas expression of LOC_Os09g12660, a glucose-1-phosphate adenylyltransferase gene, and two SS genes (LOC_Os04g17650 and LOC_Os04g24430) was up-regulated differential expression in HH11. The results showed that HH11 had more favorable adjustment in antioxidant and osmotic activity than IR29 upon exposure to salt stress, and highlighted candidate genes that could play roles in the function and regulation mechanism of salt tolerance in rice.


Assuntos
Oryza , Transcriptoma , Oryza/metabolismo , Peróxido de Hidrogênio/metabolismo , Cloreto de Sódio/farmacologia , Cloreto de Sódio/metabolismo , Estresse Salino/genética , Perfilação da Expressão Gênica , Antioxidantes/metabolismo , Superóxido Dismutase/metabolismo , Regulação da Expressão Gênica de Plantas
9.
Environ Pollut ; 337: 122596, 2023 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-37748641

RESUMO

Transformation of sulfur in sewage pipeline was affected by water flow, and the transformation laws at different locations in the sediment-water system were different. This work studied the changes of sulfur in sediments, sewage, and upper space of the sewage pipeline, analyzed the differences in microbial community under different hydraulic retention time (HRT) and depth, and focused on the transformation law of sulfur. Results showed that sulfate and sulfide concentrations in sewage were higher than those in sediments under anaerobic conditions. Moreover, sulfate and sulfide concentrations in sediments decreased with depth. When HRT decreased from 3 h to 1 h, H2S concentration increased evidently, whereas sulfate concentration decreased in the sewage and sediment, and sulfide concentration increased in sewage and surface sediment. Those differences were related to the relative abundances of the two microbial communities. The relative abundances of sulfate-reducing bacteria (SRB), such as Desulfobacter, Desulfovibrio, and Desulfomicrobium, were higher in surface sediment. Correspondingly, those of Thiobacillus, Bacillus, and other sulfur-oxidizing bacteria (SOB) and Smithella were higher in deep sediment. The decrease of HRT might worsen the mass transfer effect of dissolved oxygen, thereby increasing the production rate of sulfur and causing H2S to easily escape from sewage.


Assuntos
Esgotos , Água , Esgotos/microbiologia , Enxofre , Sulfetos , Sulfatos , Oxirredução
11.
Br J Haematol ; 202(5): 1018-1023, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37423903

RESUMO

Haemoglobin H (Hb H) disease (intermediate status of α-thalassemia) shows marked phenotypic variability from asymptomatic to severe anaemia. Apart from the combined ß-thalassemia allele ameliorating clinical severity, reports of genetic modifier genes affecting the phenotype of Hb H disease are scarce which bring inconvenience to precise diagnosis and genetic counselling of the patients. Here, we present a novel mutation (c.948C>A, p.S316R) in the PIP4K2A gene in a female Hb H disease patient who displayed moderate anaemia and a relatively high Hb H level. Haematological analysis in her family members revealed that individuals carrying this mutation have upregulated ß-globin expression, leading to a more imbalanced ß/α-globin ratio and more Hb H inclusion bodies in peripheral red blood cells. According to functional experiments, the mutant PIP4K2A protein exhibits enhanced protein stability, increased kinase activity and a stronger regulatory effect on downstream proteins, suggesting a gain-of-function mutation. Moreover, introduction of the S316R mutation into HUDEP-2 cells increased expression of ß-globin, further inhibiting erythroid differentiation and terminal enucleation. Thus, the S316R mutation is a novel genetic factor associated with ß-globin expression, and the PIP4K2A gene is a new potential modifier gene affecting the α-thalassemia phenotype.


Assuntos
Talassemia alfa , Talassemia beta , Feminino , Humanos , Talassemia alfa/genética , Mutação com Ganho de Função , Globinas beta/genética , Mutação , Talassemia beta/genética , Fenótipo , Fosfotransferases (Aceptor do Grupo Álcool)/genética
12.
J Assist Reprod Genet ; 40(7): 1747-1754, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37273165

RESUMO

PURPOSE: In this study, we aimed to identify sterility-related variants in a Chinese pedigree with male infertility and to reveal the different phenotypes and intracytoplasmic sperm injection (ICSI) outcomes of the affected members. METHODS: Physical examinations were performed on male patients. G-band karyotype analysis, copy number variation sequencing, and quantitative fluorescent PCR were conducted to detect common chromosomal disorders in the probands. Whole-exome sequencing and Sanger sequencing were applied to identify the pathogenic genes and the protein expression changes caused by the very mutation were identified by Western Blot in vitro. RESULTS: A novel nonsense mutation (c.908C > G: p.S303*) in the ADGRG2 was identified in all infertile male patients of the pedigree, which was inherited from their mothers. This variant was absent from the human genome databases. This mutation was also unexpectedly found in a male member with normal reproductive capability. Members with the mutation had different genitalia phenotypes, ranging from normal to dilated phenotypes of the vas deferens, spermatic veins and epididymis. There was a truncated ADGRG2 protein in vitro after mutation. Of the three patients' wives treated with ICSI, only one successfully gave birth. CONCLUSIONS: Our study is the first to report the c.908C > G: p.S303* mutation in the ADGRG2 in an X-linked azoospermia pedigree and is the first to report normal fertility in a member with this mutation, expanding the mutation spectrum and phenotype spectrum of this gene. In our study, ISCI had a success rate of only one-third in couples including men with azoospermia with this mutation.


Assuntos
Azoospermia , Infertilidade Masculina , Humanos , Masculino , Azoospermia/genética , Variações do Número de Cópias de DNA , População do Leste Asiático , Infertilidade Masculina/genética , Mutação/genética , Linhagem , Sêmen
13.
Gene ; 875: 147505, 2023 Jul 30.
Artigo em Inglês | MEDLINE | ID: mdl-37217151

RESUMO

OBJECTIVES: α-thalassemia is relatively prevalent in Yulin Region in southern China. In order to accurately detect α-globin gene aberrations for genetic counseling, the prevalence of HKαα (Hong Kong αα) allele in this subpopulation of silent deletional α-thalassemia were examined. MATERIALS AND METHODS: A total of 1845 subjects were selected in Yulin Region from January 2021 to March 2021. Peripheral blood was collected from each participant for routine genetic analysis of thalassemia. The HKαα allele was determined using the Single-molecule real-time (SMRT) technology for samples with -α3.7/αα, ßN/ßN genotype. RESULTS: Two samples were identified with HKαα allele from 100 samples with -α3.7/αα, ßN/ßN genotype. The frequency of HKαα allele was 2.0 % (2/100) in -α3.7/αα, ßN/ßN carriers in Yulin Region. One sample was identified with a novel variant of the α-globin gene cluster named αHKαα by SMRT technology. One rare HBA2 variant and six HBB variants were found by SMRT technology, including -α3.7/HBA2:c.300 + 34G > A, HBB:c.316-45G > C/ßN, HBB:c.315 + 180 T > C/ßN, HBB:c.316-179A > C/ßN. CONCLUSION: A certain proportion of HKαα allele had been detected in Yulin Region. SMRT technology plays a crucial role for improving the diagnostic accuracy and positive detection rate of thalassemia. The completion of this study has great meaning for strengthening the prevention and control of thalassemia in Yulin Region.


Assuntos
Talassemia alfa , Talassemia beta , Humanos , Talassemia alfa/genética , Alelos , Heterozigoto , Genótipo , China/epidemiologia , alfa-Globinas/genética , Talassemia beta/genética , Mutação
14.
MedComm (2020) ; 4(2): e220, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-36911159

RESUMO

Commonly used prediction models have been primarily constructed without taking physical activity into account. Using the Kailuan physical activity cohorts from Asymptomatic Polyvascular Abnormalities in Community (APAC) study, we developed a 9-year cardiovascular or cerebrovascular disease (CVD) risk prediction equation. Participants in this study were included from APAC cohort, which included 5440 participants from the Kailuan cohort in China. Cox proportional hazard regression model was applied to construct sex-specific risk prediction equations for the physical activity cohort (PA equation). Proposed equations were compared with the 10-year risk prediction model, which is developed for atherosclerotic cardiovascular disease risk in Chinese cohorts (China-PAR equation). C statistics of PA equations were 0.755 (95% confidence interval, 0.750-0.758) for men and 0.801 (95% confidence interval, 0.790-0.813) for women. The estimated area under the receiver operating characteristic curves in the validation set shows that the PA equations perform as good as the China-PAR. From calibration among four categories of predicted risks, the predicted risk rates by PA equations were almost identical to the Kaplan-Meier observed rates. Therefore, our developed sex-specific PA equations have effective performance for predicting CVD for physically active cohorts in the physical activity cohort in Kailuan.

15.
J Cardiovasc Transl Res ; 16(1): 51-62, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-35921051

RESUMO

Exercise is a preferred strategy for improving cardiac function, especially for patients with cardiovascular diseases. Increasing evidence indicates that oxidative stress is involved in exercise-induced cardioprotection, while the underlying mechanism remains unclear. Furthermore, the effect of antioxidant supplementation during or post-exercise still exists despite divergences. To explore the effect of oxidative stress and antioxidant supplementation on cardiovascular homeostasis during or post-exercise, we take insights into the progress of exercise-induced oxidative stress, antioxidant supplementation, and cardiovascular homeostasis. In particular, antioxidants such as vitamin C or E, gamma-oryzanol, and other natural antioxidants are discussed concerning regulating exercise-associated oxidative stress. Additionally, our present study reviewed and discussed a meta-analysis of antioxidant supplementation during exercise. Overall, we take an insight into the essential biological adaptations in response to exercise and the effects of antioxidant supplementation on cardiac function, which aid us in giving recommendations on antioxidant supplementation for exercisers and exercised people. A better understanding of these issues will broaden our knowledge of exercise physiology.


Assuntos
Antioxidantes , Amigos , Humanos , Antioxidantes/farmacologia , Suplementos Nutricionais , Exercício Físico/fisiologia , Estresse Oxidativo , Homeostase
16.
Clin Chim Acta ; 535: 7-12, 2022 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-35944700

RESUMO

BACKGROUND: Thalassemia is one of the most common hemoglobinopathies. Thalassemia is mainly caused by the loss and/or deficiency of one or more globin chains in hemoglobin. The copy number variant (CNV) of α-globin gene is one of the important factors affecting the clinical phenotype of ß-thalassemia. The precise detection for this type of variation is needed. METHODS: Peripheral blood of a 33-year-old man and his family members were collected. Complete blood counts and serum iron levels were measured for participants. Genomic DNA was extracted from all family members. Routine genetic analysis of thalassemia was performed to determine the genotype. Additional PCR-electrophoresis and Multiplex ligation dependent probe amplification (MLPA) were conducted. Single-molecule real-time technology(SMRT) was then performed as a validation assay and further characterization of the variant for family members. RESULTS: PCR-electrophoresis and MLPA found a new variant, but the exact genotype could not be determined. At last, SMRT identified the new variant as a rearrangement of the α-globin gene cluster named αHKαα (NC_000016.9:g.169818_174075dup169818_174075dup173302_177105del), which contained both the -α3.7 and ααααanti4.2 crossover junctions. Carriers of the novel CNV show normal clinical phenotype according to the hematological results. CONCLUSION: We have identified an unreported CNV (αHKαα) in α-globin gene cluster. The novel CNV not only demonstrates the accuracy and efficiency of our combining strategy in detecting unknown CNVs, but also enriched the variant spectrum of thalassemia.

17.
J Extracell Vesicles ; 11(5): e12222, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35536587

RESUMO

Air pollution, via ambient PM2.5, is a big threat to public health since it associates with increased hospitalisation, incidence rate and  mortality of cardiopulmonary injury. However, the potential mediators of pulmonary injury in PM2.5 -induced cardiovascular disorder are not fully understood. To investigate a potential cross talk between lung and heart upon PM2.5 exposure, intratracheal instillation in vivo, organ culture ex vivo and human bronchial epithelial cells (Beas-2B) culture in vitro experiments were performed respectively. The exposed supernatants of Beas-2B were collected to treat primary neonatal rat cardiomyocytes (NRCMs). Upon intratracheal instillation, subacute PM2.5 exposure caused cardiac dysfunction, which was time-dependent secondary to lung injury in mice, thereby demonstrating a cross-talk between lungs and heart potentially mediated via small extracellular vesicles (sEV). We isolated sEV from PM2.5 -exposed mice serum and Beas-2B supernatants to analyse the change of sEV subpopulations in response to PM2.5 . Single particle interferometric reflectance imaging sensing analysis (SP-IRIS) demonstrated that PM2.5 increased CD63/CD81/CD9 positive particles. Our results indicated that respiratory system-derived sEV containing miR-421 contributed to cardiac dysfunction post-PM2.5 exposure. Inhibition of miR-421 by AAV9-miR421-sponge could significantly reverse PM2.5 -induced cardiac dysfunction in mice. We identified that cardiac angiotensin converting enzyme 2 (ACE2) was a downstream target of sEV-miR421, and induced myocardial cell apoptosis and cardiac dysfunction. In addition, we observed that GW4869 (an inhibitor of sEV release) or diminazene aceturate (DIZE, an activator of ACE2) treatment could attenuate PM2.5 -induced cardiac dysfunction in vivo. Taken together, our results suggest that PM2.5 exposure promotes sEV-linked miR421 release after lung injury and hereby contributes to PM2.5 -induced cardiac dysfunction via suppressing ACE2.


Assuntos
Poluição do Ar , Vesículas Extracelulares , Cardiopatias , Lesão Pulmonar , MicroRNAs , Poluição do Ar/análise , Enzima de Conversão de Angiotensina 2 , Animais , Camundongos , Miócitos Cardíacos , Material Particulado/efeitos adversos , Ratos
18.
Water Res ; 216: 118270, 2022 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-35339967

RESUMO

Both the pore size and surface properties of silicon carbide (SiC) membranes are demonstrated to significantly affect their separation efficiency when used for oily water treatment. However, the potential influences of open porosity together with the pore size of SiC membranes on their surface properties and oil-water separation performance have rarely been investigated. In this work, porous SiC ceramic membranes with tunable open porosity and pore size were purposely prepared and selected to systematically study the effect of pore structure-dependent wettability on the oil-water separation performance. The measured pure water flux of selected membranes as a function of open porosity (34-48%) and pore size (0.43-0.67 µm) was well-fitted by using a modified H-P equation. Interestingly, the hydrophilicity of SiC membranes was improved with the increase in open porosity and pore size, as evidenced by the gradually decreased dynamic water contact angle and underwater adhesion of oil droplets. Further, the open porosity of SiC membranes was found to contribute more to the improved surface wettability. As a result, the stable flux of SiC membranes in oil-in-water (O/W) emulsions was increased by 24% with the increased open porosity while the oil rejection rate remained above 90%. This work quantitatively reveals the contributions of the pore structure to the surface wettability of ceramic membranes, and thus provides an effective pathway to improve their performance in oil-water separation.

20.
J Expo Sci Environ Epidemiol ; 31(3): 476-486, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33958708

RESUMO

BACKGROUND: Certain types of hair products are more commonly used by Black women. Studies show hair products contain several endocrine-disrupting chemicals that are associated with adverse health outcomes. As chemical mixtures of endocrine disruptors, hair products may be hormonally active, but this remains unclear. OBJECTIVE: To assess the hormonal activity of commonly used Black hair products. METHODS: We identified six commonly used hair products (used by >10% of the population) from the Greater New York Hair Products Study. We used reporter gene assays (RGAs) incorporating natural steroid receptors to evaluate estrogenic, androgenic, progestogenic, and glucocorticoid hormonal bioactivity employing an extraction method using bond elution prior to RGA assessment at dilutions from 50 to 500. RESULTS: All products displayed hormonal activity, varying in the amount and effect. Three samples showed estrogen agonist properties at levels from 12.5 to 20 ng/g estradiol equivalent concentrations All but one sample showed androgen antagonist properties at levels from 20 to 25 ng/g androgen equivalent concentrations. Four samples showed antagonistic and agonistic properties to progesterone and glucocorticoid. SIGNIFICANCE: Hair products commonly used by Black women showed hormonal activity. Given their frequent use, exposure to hormonally active products could have implications for health outcomes and contribute to reproductive and metabolic health disparities.


Assuntos
Disruptores Endócrinos , Preparações para Cabelo , Negro ou Afro-Americano , Estrogênios , Feminino , Humanos , New York
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