Application of intelligent algorithms in Down syndrome screening during second trimester pregnancy.

BACKGROUND: Down syndrome (DS) is one of the most common chromosomal aneuploidy diseases. Prenatal screening and diagnostic tests can aid the early diagnosis, appropriate management of these fetuses, and give parents an informed choice about whether or not to terminate a pregnancy. In recent years, investigations have been conducted to achieve a high detection rate (DR) and reduce the false positive rate (FPR). Hospitals have accumulated large numbers of screened cases. However, artificial intelligence methods are rarely used in the risk assessment of prenatal screening for DS. AIM: To use a support vector machine algorithm, classification and regression tree algorithm, and AdaBoost algorithm in machine learning for modeling and analysis of prenatal DS screening. METHODS: The dataset was from the Center for Prenatal Diagnosis at the First Hospital of Jilin University. We designed and developed intelligent algorithms based on the synthetic minority over-sampling technique (SMOTE)-Tomek and adaptive synthetic sampling over-sampling techniques to preprocess the dataset of prenatal screening information. The machine learning model was then established. Finally, the feasibility of artificial intelligence algorithms in DS screening evaluation is discussed. RESULTS: The database contained 31 DS diagnosed cases, accounting for 0.03% of all patients. The dataset showed a large difference between the numbers of DS affected and non-affected cases. A combination of over-sampling and under-sampling techniques can greatly increase the performance of the algorithm at processing non-balanced datasets. As the number of iterations increases, the combination of the classification and regression tree algorithm and the SMOTE-Tomek over-sampling technique can obtain a high DR while keeping the FPR to a minimum. CONCLUSION: The support vector machine algorithm and the classification and regression tree algorithm achieved good results on the DS screening dataset. When the T21 risk cutoff value was set to 270, machine learning methods had a higher DR and a lower FPR than statistical methods.

Prenatal diagnosis of a fetus with mosaic ring chromosome 13: Case report and review of the literature.

OBJECTIVE: To diagnose the ring chromosome 13 (r(13)) in a fetus, and analyze the genotype-phenotype correlation. CASE REPORT: A 26-year-old woman who was second pregnancy, underwent amniocentesis at 18 weeks of gestation because of the increased nuchal translucency (NT). Prenatal ultrasound showed the NT thickness was 3.5 mm at 12+1 weeks of gestation and nuchal fold (NF) was 6.1 mm at 18 weeks of gestation, and amniotic fluid karyotype analysis revealed mosaic r(13). CMA detected a 16.293 Mb duplication at 13q21.32q31.1 and 31.303 Mb deletion at 13q31.1q34. CONCLUSION: R(13) is a very rare chromosomal abnormality. Cytogenetic examination combined with CMA can provide accurate diagnosis and effective information for genetic counseling.

A review on vasohibin and ocular neovascularization.

Ischemic and neovascular disease is one of the most difficult ocular diseases to deal with nowadays. Redundancy, poor visual acuity and decreased life quality are bothering patients and ophthalmologists for decades. After vascular endothelial growth factor (VEGF) was found to be a primary factor in promoting retinal angiogenesis, intravitreal injection of anti-VEGF drugs has been the first-line treatment. Whereas, some patients are refractory to this therapy and problems of economic burden, local complications and adverse effects promote researches into other possible targets. The vasohibin (VASH) family is a newly-investigated factor in modulating ocular angiogenesis. The family includes VASH1 and VASH2, which show opposite effects of inhibiting and accelerating angiogenesis respectively. Positive results have been reported in cellular and animal experiments. With further researches, it can be a promising future target of treating ocular neovascular diseases.

TRIAP1 knockdown sensitizes non-small cell lung cancer to ionizing radiation by disrupting redox homeostasis.

BACKGROUND: Radioresistance of some non-small cell lung cancer (NSCLC) types increases the risk of recurrence or metastasis in afflicted patients, following radiotherapy. As such, further improvements to NSCLC radiotherapy are needed. The expression of oncogene TP53-regulated inhibitor of apoptosis 1 (TRIAP1) in NSCLC is increased following irradiation. Furthermore, gene set enrichment analysis (GSEA) has suggested that TRIAP1 might be involved in maintaining redox homeostasis. This in turn might enhance cell radioresistance. METHODS: In this study we irradiated human NSCLC cell lines (A549 and H460), while knocking down TRIAP1, to determine whether a disrupted redox homeostasis could attenuate radioresistance. RESULTS: Irradiation notably increased both mRNA and protein levels of TRIAP1. In addition, TRIAP1 knockdown decreased the expression of several antioxidant proteins, including thioredoxin-related transmembrane protein (TMX) 1, TMX2, thioredoxin (TXN), glutaredoxin (GLRX) 2, GLRX3, peroxiredoxin (PRDX) 3, PRDX4, and PRDX6 in A549 and H460 cells. In addition, silencing TRIAP1 impaired the radiation-induced increase of the aforementioned proteins. Continuing along this line, we observed a radiation-induced reduction of cell viability and invasion, as well as increased apoptosis and intracellular reactive oxygen species following TRIAP1 knockdown. CONCLUSIONS: In summary, we identified TRIAP1 as a key contributor to the radioresistance of NSCLC by maintaining redox homeostasis.

Coherent emission from integrated Talbot-cavity quantum cascade lasers.

We report experimental realization of phase-locked quantum cascade laser (QCL) array using a monolithically integrated Talbot cavity. An array with six laser elements at a wavelength of ~4.8 µm shows a maximum peak power of ~4 W which is more than 5 times higher than that of a single ridge laser element and a slope efficiency of 1 W/A at room temperature. Operation of in-phase coherent supermode has been achieved over the whole dynamic range of the Talbot-cavity QCL. The structure was analysed using a straightforward theoretical model, showing quantitatively good agreement with the experimental results. The reduced thermal resistance makes the structure an attractive approach to achieve high beam quality continuous wave QCLs.

Hybrid III-V/silicon laser with laterally coupled Bragg grating.

In this paper, we demonstrate a compact electrically pumped distributed-feedback hybrid III-V/silicon laser with laterally coupled Bragg grating for the first time to the best of our knowledge. The hybrid laser structure consists of AlGaInAs/InP multi-quantum-well gain layers on top of a laterally corrugated silicon waveguide patterned on a silicon on insulator (SOI) substrate. A pair of surface couplers is integrated at the two ends of the silicon waveguide for the optical coupling and characterization of the ouput light. Single wavelength emission of ~1.55µm with a side-mode-suppression- ratio larger than 20dB and low threshold current density of 1.54kA/cm(2) were achieved for the device under pulsed operation at 20 °C.

Transforming growth factor-ß/Smad signaling function in the aortopathies.

OBJECTIVES: Transforming growth factor (TGF)-ß/Smad signaling pathway in aortic dissection patients and normal subjects has not been previously described. The present study was designed to evaluate the TGF-ß/Smad signaling expressions in the patients with acute type A aortic dissection in comparison with those in the patients with thoracic aortic aneurysm and with coronary artery disease, and (or) the healthy subjects. METHODS: Consecutive surgical patients for acute type A aortic dissection (20 patients), aortic aneurysm (nine patients) or coronary artery disease (20 patients) were selected into this study. Blood samples (4 ml) were obtained from the right radial arterial indwelling catheter after systemic heparinization prior to the start of cardiopulmonary bypass in the operating room. Twenty-one young healthy volunteers without underlying health issues who donated forearm venous blood samples (4 ml) were taken as control. The surgical specimens of the aortic tissues were obtained immediately after they were severed during the operations of the replacement of the aorta in the patients with aortic dissection or aortic aneurysm. In patients receiving coronary artery bypass grafting, the tiny aortic tissues were taken when the punch holes of the proximal anastomosis on the anterior wall of the ascending aorta were made. The aortic tissues were for RNA, protein, or supernatant preparations until detection of TGF-ß1 mRNA by quantitative real-time reverse transcription polymerase chain reaction, of TGF-ß1, TGF-ß receptor I, Smad2/3, Smad4 and Smad7 by Western blot, and of TGF-ß1 by enzyme-linked immunosorbent assay, respectively. In particular, the linear correlations of the relative grayscales between different proteins of each group, and those correlations between the quantitative TGF-ß1 by enzyme-linked immunosorbent assay and the time interval from the onset to surgery or the maximal dimensions of the aorta of the aortic dissection group were assessed. RESULTS: Quantitative real-time reverse transcription polymerase chain reaction showed that TGF-ß1 mRNA were upregulated in all surgical groups (1.59 ± 0.33 vs. 1.45 ± 0.34 vs. 1.48 ± 0.48, P > 0.05). Western blot revealed that the expressions of TGF-ß1, TGF-ß receptor I, Smad2/3, Smad4 and Smad7 were positive in the aortic tissues of all three investigated groups. Of the quantitative relative grayscales, a significant reverse correlation was noted between TGF-ß1 and Smad2/3 (Y = -0.8552X + 1.6417, r = -0.759, P < 0.0001), and a close direct correlation between Smad4 and Smad7 (Y = 0.5905X + 0.2805, r = 0.781, P < 0.0001) in the Aortic Dissection Group. In the Aortic Aneurysm Group, Smad4 and Smad7 were also closely correlated (Y = 0.5228X + 0.1642, r = 0.727, P = 0.026), and in the Coronary Artery Disease Group, TGF-ß1 and Smad7 were much significantly correlated (Y = 0.5301X + 0.5758, r = 0.917, P = 0.004). By enzyme-linked immunosorbent assay, TGF-ß1 level of the aortic tissue was lower in the aortic dissection than in the aortic aneurysm and coronary artery disease groups with no statistical significance (319.52 ± 129.21 pg/mg protein vs. 324.09 ± 49.70 pg/mg protein vs. 304.15 ± 29.39 pg/mg protein, P > 0.05). The plasma TGF-ß1 levels were 1158.30 ± 11.54 pg/ ml, 1170.27 ± 8.26 pg/ml, 1225.00 ± 174.42 pg/mL and 1160.25 ± 13.01 pg/mL in the four groups, respectively, showing significant intergroup differences (P < 0.05). No significant correlation was found between the aortic or plasma TGF-ß1 levels and the time interval from the onset to surgery or the maximal dimensions of the aorta in the patients of the aortic dissection group. CONCLUSIONS: Aortic dissection, aortic aneurysm and atheroslerosis might be associated with an enhanced TGF ß/Smad signaling function, with aortic dissection exhibiting a less prominent upregulation. It might have implications for downstream signal activation presumably translating into matrix degradation in the condition of aortic dissection in comparison to matrix deposition in aortic aneurysm and coronary artery disease.

Transforming growth factor-β/Smad signaling function in the aortopathies / Fator transformador de crescimento-β/Smad como via de sinalização em aortopatias

OBJECTIVES: Transforming growth factor (TGF)-β/Smad signaling pathway in aortic dissection patients and normal subjects has not been previously described. The present study was designed to evaluate the TGF-β/Smad signaling expressions in the patients with acute type A aortic dissection in comparison with those in the patients with thoracic aortic aneurysm and with coronary artery disease, and (or) the healthy subjects. METHODS: Consecutive surgical patients for acute type A aortic dissection (20 patients), aortic aneurysm (nine patients) or coronary artery disease (20 patients) were selected into this study. Blood samples (4 ml) were obtained from the right radial arterial indwelling catheter after systemic heparinization prior to the start of cardiopulmonary bypass in the operating room. Twenty-one young healthy volunteers without underlying health issues who donated forearm venous blood samples (4 ml) were taken as control. The surgical specimens of the aortic tissues were obtained immediately after they were severed during the operations of the replacement of the aorta in the patients with aortic dissection or aortic aneurysm. In patients receiving coronary artery bypass grafting, the tiny aortic tissues were taken when the punch holes of the proximal anastomosis on the anterior wall of the ascending aorta were made. The aortic tissues were for RNA, protein, or supernatant preparations until detection of TGF-β1 mRNA by quantitative real-time reverse transcription polymerase chain reaction, of TGF-β1, TGF-β receptor I, Smad2/3, Smad4 and Smad7 by Western blot, and of TGF-β1 by enzyme-linked immunosorbent assay, respectively. In particular, the linear correlations of the relative grayscales between different proteins of each group, and those correlations between the quantitative TGF-β1 by enzyme-linked immunosorbent assay and the time interval from the onset to surgery or the maximal dimensions of the ...

OBJETIVOS: Fator transformador de crescimento (TGF) -β/ Smad como via de sinalização em casos de dissecção aórtica e indivíduos normais não foi descrito anteriormente. O presente estudo foi elaborado para avaliar as expressões TGF-β/Smad como via de sinalização nos pacientes com dissecção aguda da aorta, em comparação com que nos pacientes com aneurisma da aorta torácica e com doença arterial coronariana, e (ou) com indivíduos saudáveis. MÉTODOS: Pacientes cirúrgicos consecutivos para o tipo A de dissecção aguda da aorta (20 pacientes), aneurisma da aorta (nove pacientes) ou doença arterial coronária (20 pacientes) foram selecionados para este estudo. Amostras de sangue (4 ml) foram obtidas a partir do cateter arterial radial direito após heparinização sistêmica antes do início da circulação extracorpórea na sala de cirurgia. Vinte e um voluntários jovens e saudáveis, sem problemas de saúde subjacentes que doaram amostras de sangue venoso do antebraço (4 ml) foram tomados como controle. Os espécimes cirúrgicos de tecidos aórtico foram obtidos imediatamente após terem sido cortados durante as operações da substituição da aorta nos pacientes com dissecção aórtica ou aneurisma da aorta. Em pacientes que foram submetidos à cirurgia de revascularização miocárdica, os tecidos da aorta minúsculos foram obtidos quando os orifícios da anastomose proximal na parede anterior da aorta ascendente foram feitos. Os tecidos da aorta foram para a RNA, proteínas ou preparações sobrenadantes até a detecção de TGF-β1 mRNA pela reação de transcrição reversa quantitativa em tempo real em cadeia da polimerase, de TGF-β1, receptor I de TGF-β, Smad2/3, Smad4 e Smad7 por Western Blot, e de TGF-β1 pelo teste de ELISA, respectivamente. Em particular, as correlações lineares dos tons de cinza relativo entre diferentes proteínas de cada grupo, e aquelas correlações entre os quantitativos TGF-β1 pelo teste de ELISA e o intervalo de ...

Axillary artery thrombus and infective endocarditis in lupus.

Systemic lupus erythematosus is a chronic systemic autoimmune disease, often associated with severe infection. A female patient was referred for surgical treatment of infective endocarditis after being treated for systemic lupus erythematosus and lupus nephritis. She developed symptoms of left axillary artery occlusion before heart operation. Bulky fungal hyphae were noted on pathological examination of the surgically removed thrombi. The patient had an uncomplicated recovery after receiving high doses of antibiotics and subsequent mitral valve replacement. Either infective endocarditis or fungal thrombi may be secondary to systemic lupus erythematosus and impaired renal function.