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We demonstrate an ultrasensitive optomechanical strain sensor based on a SiN membrane and a Fabry-Perot cavity, enabling the measurements of both static and dynamic strain by monitoring reflected light fluctuations using a single-frequency laser. The SiN membrane offers high-quality-factor mechanical resonances that are sensitive to minute strain fluctuations. The two-beam Fabry-Perot cavity is constructed to interrogate the motion state of the SiN membrane. A static strain resolution of 4.00 nÉ is achieved by measuring mechanical resonance frequency shifts of the SiN membrane. The best dynamic resolution is 4.47 pÉHz-1/2, which is close to that of the sensor using high-finesse cavity and optical frequency comb, overcoming the dependence of ultrasensitive strain sensors on narrow-linewidth laser and high-finesse cavity with frequency locking equipment. This work opens up a promising avenue for a new generation of ultrasensitive strain sensors.
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BACKGROUND: Systemic immune-inflammation index (SII) is a novel inflammatory marker based on neutrophils, platelets and lymphocytes counts, which has potential prognostic value among coronary artery disease (CAD) patients as described by some observational studies. We aimed to provide higher-certainty evidence to verify the association of SII with poor outcomes of CAD patients. METHODS: PubMed, Web of Science, Embase, Ovid and Scopus were searched to find relevant literature exploring the prognostic value of SII among CAD patients. Hazard ratios (HRs) with 95% confidence intervals (CIs) extracted from the literature included were pooled with the fixed-effect or random-effect model. Sensitivity analyses and subgroup analyses were conducted to detect the source of heterogeneity and evaluate the stability of results. RESULTS: A total of nine studies with 15,832 participants were included. The quantitative synthesis including eight studies with 15,657 participants showed that the high SII was related to the major adverse cardiovascular event in CAD patients (HR with 95% CI: 2.36 [1.67, 3.33]). After eliminating heterogeneity and adjusting for publication bias, the above result was still robust (HR with 95% CI: 1.67 [1.32, 2.12]). Additionally, we also demonstrated the prognostic values of SII for all-cause death, cardiovascular death, myocardial infarction and stroke. CONCLUSION: Higher SII has prognostic values for adverse outcomes in CAD patients.
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Doença da Artéria Coronariana , Infarto do Miocárdio , Humanos , Prognóstico , Plaquetas , InflamaçãoRESUMO
BACKGROUND: Glycated Albumin (GA) and atherogenic index of plasma (AIP) are two important biomarkers that respectively reflect lipid and glucose levels. Previous research has revealed their roles in cardiovascular diseases (CVD) and diabetes. However, their combined predictive ability in forecasting cardiovascular events (CVE) after percutaneous coronary intervention (PCI) among postmenopausal acute coronary syndrome (ACS) patients remains insufficiently studied. METHODS: Based on the levels of AIP (AIP-L and AIP-H) and GA (GA-L and GA-H), four groups were used to categorize the patients. The CVE assessed included cardiac death, nonfatal myocardial infarction (MI) and nonfatal stroke. To evaluate the relationship between AIP, GA, and CVE, multivariate Cox regression analyses were performed. RESULTS: 98 patients (7.5%) experienced CVE during follow-up. AIP and GA were revealed as strong independent predictors of CVE through multivariate analysis (AIP: HR 3.324, 95%CI 1.732-6.365, P = 0.004; GA: HR 1.098, 95% CI 1.023-1.177, P = 0.009). In comparison to those in the initial group (AIP-L and GA-L), the fourth group (AIP-H and GA-H) of patients exhibited the greatest CVE risk (HR 2.929, 95% CI 1.206-5.117, P = 0.018). Derived from the model of baseline risk, the combination of AIP + GA significantly enhanced the AUC, meanwhile combining AIP and GA levels maximized prognostic accuracy in the baseline risk model. CONCLUSIONS: This study found that the combined measurement of AIP and GA significantly enhanced the predictive capability for CVE following PCI in postmenopausal ACS patients. By integrating these two biomarkers, it became possible to more accurately identify high-risk individuals and provided clinicians with new predictive tools for postmenopausal ACS patients in risk assessment and management.
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Síndrome Coronariana Aguda , Biomarcadores , Albumina Sérica Glicada , Produtos Finais de Glicação Avançada , Intervenção Coronária Percutânea , Pós-Menopausa , Albumina Sérica , Humanos , Feminino , Intervenção Coronária Percutânea/efeitos adversos , Síndrome Coronariana Aguda/sangue , Síndrome Coronariana Aguda/terapia , Pós-Menopausa/sangue , Idoso , Pessoa de Meia-Idade , Albumina Sérica/metabolismo , Albumina Sérica/análise , Produtos Finais de Glicação Avançada/sangue , Biomarcadores/sangue , Aterosclerose/sangue , Fatores de Risco , Infarto do Miocárdio/sangue , PrognósticoRESUMO
BACKGROUND: Remnant cholesterol (RC) exert a significant influence on atherosclerotic cardiovascular disease development. However, the prognostic implications of RC in menopausal women received percutaneous coronary intervention (PCI) who experiencing acute coronary syndrome (ACS) remain uncertain. METHODS: RC was derived by subtracting the sum of high-density lipoprotein cholesterol and low-density lipoprotein cholesterol from the total cholesterol. Kaplan-Meier survival and Cox regression analysis were employed for assessing the correlation between continuous RC levels and composite and individual adverse events in Q1-Q4 quartiles. Receiver operator characteristic (ROC) curves, derived from Cox regression, were employed for analyzing the relationship between RC and both composite and individual adverse events. RESULTS: 1505 consecutive menopausal women who underwent PCI and diagnosed with ACS were included. Kaplan-Meier survival analysis demonstrated a progressive reduction in composite adverse event survival rates across the four groups, observed in both the general population and among diabetic individuals, as RC values increased (Log-rank P < 0.001). The analysis of multivariate Cox regression indicated RC remained independently associated with both composite and individual adverse events. ROC analysis showed that RC enhanced the area under the curve both in total and diabetic populations for composite adverse events. CONCLUSION: Among menopausal women diagnosed with ACS who underwent PCI, heightened levels of RC were found to be independently correlated with an increased occurrence of adverse events.
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Síndrome Coronariana Aguda , Colesterol , Menopausa , Intervenção Coronária Percutânea , Humanos , Síndrome Coronariana Aguda/sangue , Síndrome Coronariana Aguda/terapia , Síndrome Coronariana Aguda/cirurgia , Síndrome Coronariana Aguda/mortalidade , Feminino , Pessoa de Meia-Idade , Colesterol/sangue , Idoso , Prognóstico , Estimativa de Kaplan-Meier , Modelos de Riscos Proporcionais , Curva ROC , HDL-Colesterol/sangue , Povo Asiático , LDL-Colesterol/sangue , Fatores de RiscoRESUMO
The water quality index (WQI) is an important tool for evaluating the water quality status of lakes. In this study, we used the WQI to evaluate the spatial water quality characteristics of Dianchi Lake. However, the WQI calculation is time-consuming, and machine learning models exhibit significant advantages in terms of timeliness and nonlinear data fitting. We used a machine learning model with optimized parameters to predict the WQI, and the light gradient boosting machine achieved good predictive performance. The machine learning model trained based on the entire Dianchi Lake water quality data achieved coefficient of determination (R2), mean square error, and mean absolute error values of 0.989, 0.228, and 0.298, respectively. In addition, we used the Shapley additive explanations (SHAP) method to interpret and analyse the machine learning model and identified the main water quality parameter that affects the WQI of Dianchi Lake as NH4+-N. Within the entire range of Dianchi Lake, the SHAP values of NH4+-N varied from -9 to 3. Thus, in future water environmental governance, it is necessary to focus on NH4+-N changes. These results can provide a reference for the treatment of lake water environments.
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Conservação dos Recursos Naturais , Política Ambiental , Qualidade da Água , Lagos , Aprendizado de MáquinaRESUMO
Earlier diagnosis of nonalcoholic fatty liver disease (NAFLD) is important to prevent progression of the disease. Recently, a low-cost portable magnetic resonance (MR) system was developed as a point-of-care screening tool for in vivo liver fat quantification. However, subcutaneous fat may confound the liver fat quantification, particularly in the NAFLD population. In this work, we propose a novel radiofrequency (RF) coil design composed of a set of "saturation" coils sandwiching a main coil to improve human liver fat quantification. By comparison with conventional MR imaging, we demonstrate the capability and effectiveness of the novel RF coil design in phantom experiments as well as in vivo liver scans. In the phantom experiment, the saturation coil reduced the error in the measured proton density fat fraction (PDFF) results from 28.9% to 4.0%, and in the in vivo experiment, it reduced the discrepancy in the PDFF results from 13.2% to 4.0%. The novel coil design, together with the adapted Carr-Purcell-Meiboom-Gill-based sequence, improves the practicability and robustness of the portable single-side MR system.
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Hepatopatia Gordurosa não Alcoólica , Humanos , Hepatopatia Gordurosa não Alcoólica/diagnóstico por imagem , Fígado/diagnóstico por imagem , Fígado/patologia , Espectroscopia de Ressonância Magnética , Imageamento por Ressonância Magnética/métodos , Tecido Adiposo/diagnóstico por imagem , Tecido Adiposo/patologia , PrótonsRESUMO
BACKGROUND: Contrast-induced encephalopathy (CIE) is considered as an uncommon complication following cardiac catheterization. Due to the varied manifestations, CIE has no formal diagnostic criteria. In fact, the incidence of CIE may be greatly underestimated because of the difficulty in its differential diagnosis with other cerebrovascular complications. Thus, making a flow diagram according to patients' clinical symptoms and examinations after cardiac catheterization to help clinicians diagnose CIE is important and needed. CASE PRESENTATION: In this report, we describe a case of probable CIE in a 66-year-old Chinese man with hypertension who underwent cardiac catheterization with stents placement in the bifurcation lesion, during which 80 ml iopromide contrast was used. About 2 h following the procedure, the patient lost his consciousness suddenly and suffered from a status epilepticus. Malignant arrhythmias were not found through continuous electrocardiogram monitoring, but mild ST-segment elevation was displayed in leads I and aVL. The echocardiography, plasma glucose and electrolyte levels were normal. Emergency re-angiography with percutaneous transluminal coronary angioplasty was performed in the culprit lesion, which involved 60 ml iopromide contrast. However, the patient remained unconsciousness and epilepticus. Non-contrast computed tomography (CT) of the head showed cortical and subarachnoid enhancement as well as prolonged retention of contrast media in the middle cerebral artery. With supportive treatment of intravenous hydration, sedative and dehydrant, the patient recovered 3 h later and finally discharged without any neurological deficits. CONCLUSIONS: CIE is an acute reversible encephalopathy induced by contrast media. It is exceptionally challenging to make the diagnosis of CIE following cardiac catheterization since there is a lack of consensus on the definition of CIE. Via this case we reviewed the related literatures, through which a flow diagram of the differential diagnosis and clinical decision making was given, which could help to differentiate CIE from other neurological complications following cardiac catheterization.
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Encefalopatias , Meios de Contraste , Masculino , Humanos , Idoso , Meios de Contraste/efeitos adversos , Diagnóstico Diferencial , Encefalopatias/induzido quimicamente , Encefalopatias/diagnóstico , Cateterismo Cardíaco/efeitos adversos , Tomada de Decisão ClínicaRESUMO
BACKGROUND: High levels of lipoprotein(a) [Lp(a)] are linked to adverse cardiovascular events. The significance of Lp(a) for the survival of octogenarians with coronary artery disease (CAD) after drug-eluting stent (DES) insertion is, however, not known. The purpose of the study is to investigated the connection between Lp(a) and outcome in octogenarians with CAD after DES implantation. METHODS: We retrospectively enrolled a total of 506 consecutive octogenarians with CAD and DES implantation in our institution between January 2015 to August 2018. Two patient groups were established: a low group with plasma Lp(a) lower than 50 mg/dL (n = 408) and a high group with values above 50 mg/dL (n = 98). RESULTS: After following up for a median of 31.53 ± 8.22 months, Kaplan-Meier curves indicated that poorer outcome censored for major cardiovascular events (MACE), myocardial infarction (MI), and target vessel revascularization (TVR) in the high group relative to the low group (log-rank test p = 0.001, p = 0.008, and p < 0.001, respectively). High Lp(a) independently predicted MACE (hazard ratio (HR) 1.90; 95% confidence interval (CI) 1.28-2.84; p = 0.002), MI (HR 2.74; 95% CI 1.23-6.11; p = 0.014), and TVR (HR 3.65; 95% CI 1.99-6.69; p < 0.001) after covariate adjustment. CONCLUSIONS: High Lp(a) was also significantly related to poor long-term outcome in octogenarians with CAD after DES implantation.
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Doença da Artéria Coronariana , Stents Farmacológicos , Infarto do Miocárdio , Intervenção Coronária Percutânea , Idoso de 80 Anos ou mais , Doença da Artéria Coronariana/diagnóstico por imagem , Doença da Artéria Coronariana/etiologia , Doença da Artéria Coronariana/terapia , Stents Farmacológicos/efeitos adversos , Humanos , Lipoproteína(a) , Octogenários , Intervenção Coronária Percutânea/efeitos adversos , Estudos Retrospectivos , Resultado do TratamentoRESUMO
BACKGROUND: B-cell acute lymphoblastic leukemia (B-ALL) is the most common malignancy of childhood. Even though significant progresses have been made in the treatment of B-ALL, some pediatric B-ALL have still poor prognosis. The identification of tumor autoantibodies may have utility in early cancer diagnosis and immunotherapy. In this study, we used serological proteome analysis (SERPA) to screen serum autoantibodies of pediatric B-ALL, aiming to contribute to the early detection of B-ALL in children. METHODS: The total proteins from three pooled B-ALL cell lines (NALM-6, REH and BALL-1 cells) were separated using two-dimensional gel electrophoresis (2-DE), which was followed by Western blot by mixed serum samples from children with B-ALL (n=20) or healthy controls (n=20). We analyzed the images of 2-D gel and Western blot by PDQuest software, and then identified the spots of immune responses in B-ALL samples compared with those in control samples. The proteins from spots were identified using mass spectrometry (MS). The autoantibodies against alpha-enolase (α-enolase) and voltage-dependent anion-selective channel protein 1 (VDAC1) were further validated in sera from another 30 children with B-ALL and 25 normal individuals by the use of enzyme-linked immunosorbent assay (ELISA). The protein expression levels of the candidate antigens α-enolase and VDAC1 in B-ALL were thoroughly studied by immunohistochemical analysis. RESULTS: Utilizing the SERPA approach, α-enolase and VDAC1 were identified as candidate autoantigens in children with B-ALL. The frequencies of autoantibodies against α-enolase and VDAC1 in children with B-ALL were 27% and 23% by using ELISA analysis, respectively, which were significantly higher than those in normal controls (4% and 0, p<0.05). Immunohistochemical analysis showed the expression of α-enolase and VDAC1 was positive in 95% and 85% of B-ALL patients, respectively, but negative expression levels were showed in the control group. CONCLUSIONS: This study incidated that α-enolase and VDAC1 may be the autoantigens associated with B-ALL. Therefore, α-enolase and VDAC1 autoantibodies may be the potential serological markers for children with B-ALL.
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BACKGROUND: Although endovascular repair is used to treat penetrating aortic ulcers (PAUs), the indications for endovascular repair in PAUs remain controversial. The current study evaluated the mid-term results of endovascular repair for PAUs and further explored the endovascular indications for PAUs. METHODS: We retrospectively reviewed the clinical data of patients who were diagnosed with PAUs and underwent endovascular repair in our department from October 2018 to August 2020. Endovascular indication included persistent or recurring symptoms, a maximum diameter of the PAU of greater than 20 mm, a maximum depth of the PAU of greater than 10 mm, an increase in the diameter of the aorta at the ulcer of greater than 10 mm annually, and multiple ulcers at the same or adjacent level of the aorta. Patient characteristics, anatomical parameters of the PAU, characteristics of endovascular repair and follow-up data were analyzed. RESULTS: 15 patients were included in the study. 3 patients had PAUs in the aortic arch, 6 PAUs were in the descending thoracic aorta, 4 PAUs were in the abdominal aorta, and 2 PAUs were in the descending thoracic and abdominal aortas. The average age was 70.60±8.27 years. Eight patients were symptomatic. The average depth of the PAUs was 7.32±2.74 mm, and the average diameter was 15.03±6.10 mm. The average operation time was 95.60±33.11 min. Postoperative hospital stay was 3.33±0.61 days. A left subclavian artery chimney stent was implanted in 3 aortic arch cases and 1 occluded case without adverse symptoms during the follow-up period. A bifurcated stent graft was placed in 3 abdominal aorta cases and exhibited good patency during the follow-up period. The duration of follow-up ranged from 3 to 24 months. The follow-up results showed that all PAUs were treated satisfactorily by endovascular repair, and no endoleaks or stent graft-related complications occurred. CONCLUSION: Endovascular repair is a safe and effective treatment for PAUs, and it may be safely performed in elderly patients and patients with comorbidities. The endovascular indications for PAUs must be further studied and optimized.
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Doenças da Aorta , Implante de Prótese Vascular , Procedimentos Endovasculares , Idoso , Aorta Torácica/diagnóstico por imagem , Aorta Torácica/cirurgia , Doenças da Aorta/complicações , Doenças da Aorta/diagnóstico por imagem , Doenças da Aorta/cirurgia , Implante de Prótese Vascular/efeitos adversos , Procedimentos Endovasculares/efeitos adversos , Humanos , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Risco , Stents , Fatores de Tempo , Resultado do Tratamento , Úlcera/complicações , Úlcera/diagnóstico por imagem , Úlcera/cirurgiaRESUMO
The aim of this study is to evaluate the relationship between maternal single nucleotide polymorphisms (SNPs) of methylenetetrahydrofolate reductase (MTHFR) gene with plasma homocysteine (HCY) level and offspring congenital heart diseases (CHDs). 338 mothers with offspring CHDs as case group and 306 mothers of normal children as control group were recruited. Their pregnant histories were interviewed by questionnaire and the MTHFR rsl801133 and rsl801131 were genotyped. The case-control analysis was used to find out the relationship between maternal SNPs of MTHFR gene and offspring CHDs. And the plasma HCY concentration of the mothers of CHDs children was detected. This case-case study was intended to find out the relevance between maternal HCY level and SNPs of MTHFR gene. There were significant differences in the gender of children, occupation of mothers, family history with CHDs, history of abortion, history of adverse pregnancy, early pregnancy health, fetus during pregnancy, pesticide exposure and drug exposure in CHDs group and control group (P < 0.05). MTHFR rs1801133 was significantly associated with their offspring CHDs in mothers. The polymorphism of maternal MTHFR rs1801133 increased plasma HCY level, especially the homozygous mutation. Besides the environmental factors, our results suggested that the maternal MTHFR rs1801133 polymorphism might be a risk factor of their offspring CHDs, which may be due to the hyperhomocysteinemia by abnormal metabolism of HCY.
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Cardiopatias Congênitas/genética , Homocisteína/sangue , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Polimorfismo de Nucleotídeo Único/genética , Adulto , Estudos de Casos e Controles , Criança , Feminino , Genótipo , Humanos , Hiper-Homocisteinemia/epidemiologia , Hiper-Homocisteinemia/genética , Masculino , Mães , Mutação , Gravidez , Fatores de Risco , Inquéritos e Questionários , Adulto JovemRESUMO
Mesh repairs are widely accepted as a suitable option for ventral hernia repair. Among the various devices and surgical approaches used for ventral hernia repair, the UltraPro Hernia System (UHS) is considered an effective method of open repair for patients with medium ventral hernia defects between 3 and 5 cm in diameter. However, few clinical studies on this system have been reported. We describe a simple and safe UHS mesh technique for open ventral hernia repair, which was performed successfully under local anesthesia in 23 patients with medium ventral hernia defects. Minor postoperative complications included seroma (n = 3) and a superficial infection (n = 1). There was no incidence of recurrence in 12 months of follow-up. Our results show that the UHS is simple and easily reproducible for medium ventral hernia defects between 3 and 5 cm in diameter.
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Hérnia Ventral/patologia , Hérnia Ventral/cirurgia , Herniorrafia/métodos , Telas Cirúrgicas , Adulto , Idoso , Idoso de 80 Anos ou mais , Anestesia Local , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Segurança , Resultado do TratamentoRESUMO
We compared the outcomes of immunosuppressive therapy (IST) with those of T cell-replete haploidentical donor hematopoietic stem cell transplantation (haplo-HSCT) in children and adolescents with severe aplastic anemia (SAA). The medical records of 49 patients with SAA who received frontline IST (nâ¯=â¯29) or frontline haplo-HSCT (nâ¯=â¯20) between 2012 and 2016 were analyzed retrospectively. Fourteen patients responded after the first IST, and 1 patient responded after the second IST in the frontline IST group; 12 patients underwent salvage HSCT after IST failure. Sixteen of the 20 patients who underwent frontline haplo-HSCT survived without treatment failure. The 3-year overall survival of the frontline IST group was comparable to that of the frontline haplo-HSCT group (79.3 ± 7.5% versus 85.0 ± 8.0%; χ2â¯=â¯0.110; Pâ¯=â¯.740). The 3-year failure-free survival was lower in the frontline IST group compared with the frontline haplo-HSCT group (35.9 ± 10.9% versus 80.0 ± 8.9%; χ2â¯=â¯4.089; Pâ¯=â¯.043). Five patients of the IST group who underwent salvage HSCT achieved long survival without event. The event-free survival was lower in the salvage HSCT group compared with the haplo-HSCT group (41.7 ± 14.2% versus 80.0 ± 8.9%; χ2â¯=â¯3.992; Pâ¯=â¯.046), and the incidences of acute GVHD, grade II-IV acute GVHD, chronic GVHD, and severe infection were comparable between the 2 groups. Our results suggest that frontline haplo-HSCT may be a better treatment than IST for children and adolescents with SAA who lack an HLA age-matched familial donor.
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Anemia Aplástica/terapia , Transplante de Células-Tronco Hematopoéticas/métodos , Terapia de Imunossupressão/métodos , Terapia de Salvação/métodos , Transplante Haploidêntico/métodos , Adolescente , Anemia Aplástica/mortalidade , Criança , Doença Enxerto-Hospedeiro/etiologia , Transplante de Células-Tronco Hematopoéticas/mortalidade , Humanos , Terapia de Imunossupressão/mortalidade , Estudos Retrospectivos , Análise de Sobrevida , Transplante Haploidêntico/mortalidade , Transplante Haploidêntico/normas , Resultado do TratamentoRESUMO
The formation of amide bonds is one of the most valuable transformations in organic synthesis. Beckmann rearrangement is a well-known method for producing secondary amides from ketoximes. This study demonstrates the rapid synthesis of ketoximes and amides in microdroplets. Many factors are found to affect the yield, such as microdroplet generation devices, temperature, catalysts, and concentrations of reactants. In particular, the temperature has a great influence on the synthesis of amide, which is demonstrated by a sharp ascendance to the yield when the temperature was increased to 45 °C. The best amide yield (93.3%) can be obtained by using coaxial flowing devices, a sulfonyl chloride compound as a catalyst, and heating to 55 °C in microdroplets. The yields can reach 78.7-91.3% for benzoylaniline and 87.2-93.4% for benzophenone oximes in several seconds in microdroplets compared to 10.1-66.1% and 82.5-93.3% in several hours in the bulk phase. Apart from the dramatically decreased reaction time and enhanced reaction yields, the microdroplet synthesis is also free of severe reaction environments (anhydrous and anaerobic conditions). In addition, the synthesis in microdroplets also saves reactants and solvents and reduces the waste amounts. All of these merits indicate that the microdroplet synthesis is a high-efficiency green methodology.
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BACKGROUND: Genetic susceptibility to the development of coronary artery disease (CAD) and myocardial infarction (MI) is well established. However, lack of replication, and difficulty in the identification of specific genes that underlie impressive linkage peaks remain challenges at the molecular level due to the heterogeneity of phenotype and their associated genotypes. We present two cases of first-degree family members of acute myocardial infarction (AMI) having similar clinical and angiographic features of obstructive coronary lesions at same anatomic locations. CASE PRESENTATION: The father presented with significant chest discomfort and loss of consciousness. The electrocardiogram (ECG) showed an acute anterior ST-segment-elevation myocardial infarction (STEMI). Coronary angiogram demonstrated a subtotal occlusion in the mid-left anterior descending (LAD) coronary artery. One week later, the son presented after an in-hospital cardiac arrest with pulseless electric activity preceded by significant chest pain and loss of consciousness. His ECG also showed an acute anterior STEMI. Catheterization revealed strikingly similar angiographic characteristics with his father: subtotal occlusion in the proximal to mid-LAD coronary artery. CONCLUSIONS: More considerations should be given to patients with similar phenotypic characterization in genetic studies of CAD/MI in the future.
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Infarto Miocárdico de Parede Anterior/genética , Doença da Artéria Coronariana/genética , Parada Cardíaca/genética , Infarto do Miocárdio com Supradesnível do Segmento ST/genética , Infarto Miocárdico de Parede Anterior/diagnóstico por imagem , Infarto Miocárdico de Parede Anterior/terapia , Reanimação Cardiopulmonar , Angiografia Coronária , Doença da Artéria Coronariana/diagnóstico por imagem , Doença da Artéria Coronariana/terapia , Eletrocardiografia , Predisposição Genética para Doença , Parada Cardíaca/diagnóstico , Parada Cardíaca/terapia , Hereditariedade , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Intervenção Coronária Percutânea/instrumentação , Fenótipo , Fatores de Risco , Infarto do Miocárdio com Supradesnível do Segmento ST/diagnóstico , Infarto do Miocárdio com Supradesnível do Segmento ST/terapia , StentsRESUMO
Congenital heart disease (CHD) usually occurs sporadically, with only a minority of cases associated with a known genetic mechanism. Cardiac-specific transcription factors NKX2-5 and GATA4 play key roles in the mammalian heart development, and the affected cardiac tissues of CHD patients are prone to somatic mutations which thus participate in the pathogenesis of CHD. We collected 98 patients with sporadic CHD, extracted genomic DNA from cardiac tissues and blood, and then screened NKX2-5 and GATA4 genes using PCR-direct sequence analysis. A novel heterozygous missense mutation (c.907G > A, p.V303I) of NKX2-5 gene was identified in a patient with tetralogy of Fallots. Functional assay revealed that this mutant was associated with significantly reduced transcriptional activity. In addition, we found two known single-nucleotide polymorphisms (SNPs) (rs2277923, rs3729753) in NKX2-5 and two known SNPs (rs56166237, rs3729856) in GATA4. All variations identified in cardiac tissues were consistent with those of peripheral blood, and no somatic mutations were found in cardiac tissues. Our study shows no evidence of NKX2-5 and GATA4 somatic mutations playing a role in the pathogenesis of sporadic CHD.
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Fator de Transcrição GATA4/genética , Cardiopatias Congênitas/genética , Proteína Homeobox Nkx-2.5/genética , Mutação de Sentido Incorreto , China , Feminino , Humanos , Masculino , Polimorfismo de Nucleotídeo Único , Reação em Cadeia da Polimerase Via Transcriptase ReversaRESUMO
Dilated cardiomyopathy (DCM) is characterized by left or bilateral ventricular dilation and systolic dysfunction without rational conditions, which can lead to progressive heart failure and sudden cardiac death. Most of the pathogenic genes have been reported in adult population by locus mapping in familial cases and animal model studies. However, it still remains challenging to decipher the role of genetics in the etiology of pediatric DCM. We applied whole-exome sequencing (WES) for 30 sporadic pediatric DCM subjects and 100 non-DCM local controls. We identified the pathogenic mutations using bioinformatics tools based on genomic strategies synergistically and confirmed mutations by Sanger sequencing. We identified compound heterozygous nonsense mutations in DSP (c.3799C > T, p.R1267X; c.4444G > T, p.E1482X). In sporadic cases, the two heterozygous mutations in XIRP2 were identified. Then we performed an exome-wide association study with 30 case and 100 control subjects. Interestingly, we could not identify TTN truncating variants in all cases. Collectively, we observed a significant risk signal between carriers of TTN deleterious missense variants and DCM risk (odds ratio 4.0, 95% confidence interval 1.1-22.2, p = 3.12 × 10-2). Our observations expanded the spectrum of mutations and were valuable in the pre- and postnatal screening and genetic diagnosis for DCM.
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Cardiomiopatia Dilatada/genética , Sequenciamento do Exoma/métodos , Heterogeneidade Genética , Cardiomiopatia Dilatada/diagnóstico , Estudos de Casos e Controles , Criança , Pré-Escolar , China , Códon sem Sentido , Feminino , Humanos , Masculino , Linhagem , Mutação PuntualRESUMO
In this paper,RGB image sensors based on visible light communication system are designed and researched. In our study, the spatial inter-symbol interference is considered and the formation mechanism of the stray light, the influence of the spatial inter-symbol interference, and the influence of RGB image sensors are analyzed. The mathematics expression of the system signal-to-noise ratio (SNR) and bit error ratio (BER) is given. The simulation result indicates that there is a critical communication distance in the system. Once the communication distance exceeds the critical value, the system BER performance increases sharply. In addition, an adaptive threshold detection method is introduced and the performance is simulated. By means of estimating the spatial inter-symbol interference noise power, the optimal detection threshold can be obtained and the system BER performance increases significantly.
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OBJECTIVE: To investigate the long-term clinical value of prostate 125I brachytherapy (BT) combined with maximal androgen blockade (MAB) in the treatment of metastatic prostate cancer (mPCa). METHODS: We retrospectively analyzed the clinical data on 173 cases of mPCa treated by MAB (n = 126) or BT+MAB (n = 47) from December 2011 to December 2016 and followed up for 6ï¼76 (44.17 ± 19.73) months. We compared the PSA level, prostate volume, IPSS, progression-free survival, and the rates of 3- and 5-year overall survival between the two groups. RESULTS: After treatment, the minimum PSA level was significantly lower in the BT+MAB than in the MAB group ï¼»3.77 ± 4.14ï¼½ vs ï¼»5.96 ± 7.01ï¼½ ng/ml, P = 0.046) and the time to reach the minimum level was shorter in the former than in the latter (ï¼»5.19 ± 2.83ï¼½ vs ï¼»6.52 ± 3.34ï¼½ mo, P = 0.016). The prostate volume was markedly reduced in both of the groups at 1, 3 and 5 years after treatment as compared with the baseline, even more significantly in the BT+MAB than in the MAB group (P < 0.01), though with no statistically significant difference between the two groups before treatment (P = 0.307). The IPSS was remarkably decreased in both of the groups at 1 and 3 years (P < 0.01) but showed no significant difference at 5 years after treatment as compared with the baseline (P > 0.05) or between the two groups before and after treatment (P > 0.05). The progression-free survival was obviously longer in the BT+MAB than in the MAB group (ï¼»37.29 ± 15.73ï¼½ vs ï¼»29.41 ± 14.37ï¼½ mo, P = 0.011), and the rates of 3- and 5-year overall survival were higher in the former than in the latter (74.60% and 60.70% vs 62.60% and 51.50%, P = 0.227 and P = 0.356). Kaplan-Meier survival curves showed no statistically significant difference in the overall survival between the two groups (P = 0.105). CONCLUSIONS: Both MAB and BT+MAB are effective therapies for mPCa, but the latter can achieve a longer progression-free survival.
Assuntos
Inibidores da Angiogênese , Braquiterapia , Radioisótopos do Iodo , Neoplasias da Próstata , Inibidores da Angiogênese/administração & dosagem , Terapia Combinada/normas , Humanos , Estimativa de Kaplan-Meier , Masculino , Antígeno Prostático Específico/sangue , Neoplasias da Próstata/tratamento farmacológico , Neoplasias da Próstata/mortalidade , Neoplasias da Próstata/radioterapia , Estudos Retrospectivos , Resultado do TratamentoRESUMO
OBJECTIVE: To study the clinical effect of psychological and behavioral intervention combined with biofeedback in the treatment of preschool children with attention deficit hyperactivity disorder (ADHD). METHODS: Sixty children each with inattentive, hyperactive/impulsive or combined type ADHD were enrolled. According to the intervention measure, they were randomly divided into 4 groups: control, psychological and behavioral intervention, biofeedback treatment and comprehensive treatment (psychological and behavioral intervention + biofeedback). Attention concentration time and impulse/hyperactivity and hyperactivity index scores of the Conners Parent Symptom Questionnaire (PSQ) were evaluated after 4 months of treatment. RESULTS: The attention concentration time increased in all types children with ADHD after psychological and behavioral intervention, biofeedback treatment or comprehensive treatment (P<0.05). In children with inattentive ADHD, hyperactive/impulsive ADHD or combined-type ADHD, biofeedback or comprehensive treatment reduced the impulse/hyperactivity index score (P<0.05). In children with inattentive or combined-type ADHD, psychological and behavioral intervention or comprehensive treatment reduced the hyperactivity index score (P<0.05). In children with hyperactive/impulsive ADHD, biofeedback treatment, psychological and behavioral intervention or comprehensive treatment reduced the hyperactivity index score (P<0.05). CONCLUSIONS: In children with ADHD, psychological and behavioral intervention combined with biofeedback treatment can improve the attention concentration and impulsive/hyperactive and hyperactive symptoms. The treatment strategies are slightly different for children with different types of ADHD.