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Chromosome microarray analysis (CMA) and whole exome sequencing (WES) are increasingly utilized in prenatal diagnosis of abnormal ultrasound findings, but studies on correlation between pathogenic copy number variations (pCNVs) and single-gene mutations in fetuses with nuchal translucency (NT) thickening/cystic hygroma (CH), and pregnancy outcomes, are rare. This study aimed to investigate clinical value of CMA and WES for NT thickening/CH in fetuses, explore genetic correlation between fetal NT thickening and CH, and analyze pregnancy outcomes. We retrospectively selected 215 pregnant women diagnosed with fetal NT thickening (NT > 95th)/CH who underwent invasive prenatal diagnosis at our hospital from January 2020 to June 2022. With negative chromosomal karyotype analysis (KA) and CMA results, patients voluntarily underwent WES. Patients were grouped by NT thickening/CH, and application value of KA, CMA, and WES examined. Ultrasound findings, pregnancy outcomes, and fetal growth post-birth were followed during mid/late pregnancy and post-delivery. Abnormalities in chromosomal number were detected in 28 of 215 samples, with a detection rate of 13.0%, and pCNVs were detected in 12 cases, with a detection rate of 5.6%. The most common abnormality in fetuses from both groups suggested by CMA was 22q11.21 microdeletion-microduplication syndrome. 35 patients with negative KA and CMA results underwent WES, and single gene variants were detected in 12 fetuses, with an abnormality rate of 34.3%. The incidence of adverse pregnancy outcomes was 28.2% in the NT thickening group and 82.9% in the CH group (P < 0.05). Overall, fetal NT thickening/CH was associated with genetic abnormalities, WES further improved the diagnosis of abnormal fetuses after negative KA and CMA results in both groups, and the incidence of adverse pregnancy outcomes was lower in the NT thickening group than in the CH group. The management of pregnancy outcomes could guide clinical genetic counselling. [ABSTRACT FROM AUTHOR]

The management of small vessels has always been key to maritime administration. This paper presents a novel method for recognizing small fishing vessels based on laser sensors. Using four types of small fishing vessels as targets, a recognition method for small fishing vessels based on Markov transition field (MTF) time-series images and VGG-16 transfer learning is proposed. In contrast to conventional methods, this study uses polynomial fitting to obtain the contours of a fishing vessel and transforms one-dimensional vessel contours into two-dimensional time-series images using the MTF coding method. The VGG-16 model is used for the recognition process, and migration learning is applied to improve the results. The UCR time-series public dataset is used as a transfer learning dataset for the MTF time-series image encoding. The experiment demonstrates that the proposed method exhibits higher accuracy and performance than 1D-CNN and other general neural network models, and the highest accuracy rate is 98.92%. [ABSTRACT FROM AUTHOR]

Spinal muscular atrophy (SMA) is a neuromuscular disorder with an autosomal recessive inheritance pattern. Patients with severe symptoms may suffer respiratory failure, leading to death. The homozygous deletion of exon 7 in the SMN1 gene accounts for nearly 95% of all cases. Population carrier screening for SMA and prenatal diagnosis by amniocentesis for high-risk couples can assist in identifying the risk of fetal disease. We provided the SMA carrier screening process to 55,447 pregnant women in Yancheng from October 2020 to December 2022. Among them, 8185 participated in this process, with a participation rate of around 14.76% (95% CI 14.47–15.06%). Quantitative real-time polymerase chain reaction (qPCR) was used to detect deletions of SMN1 exons 7 and 8 (E7, E8) in screened pregnant women. 127 were identified as carriers (111 cases of E7 and E8 heterozygous deletions, 15 cases of E7 heterozygous deletions, and 1 case of E7 heterozygous deletions and E8 homozygous deletions), resulting in a carrying rate of around 1.55% (95% CI 1.30–1.84%). After genetic counseling, 114 spouses of pregnant women who tested positive underwent SMA carrier screening; three of them were screened as SMA carriers. Multiplexed ligation-dependent probe amplification (MLPA) was used for the prenatal diagnosis of the fetuses of high-risk couples. Two of them exhibited two copies of SMN1 exon 7 (normal), and the pregnancy was continued; one exhibited no copies of SMN1 exon 7 and exon 8 (SMA patient), and the pregnancy was terminated. Analyzing SMN1 mutations in Yancheng and provide clinical evidence for SMA genetic counseling and birth defect prevention. Interventional prenatal diagnosis for high-risk families can promote informed reproductive selection and prepare for the fetus’s early treatment. [ABSTRACT FROM AUTHOR]

Pd catalysts supported on N-doped-ordered mesoporous carbons (NOMC) have been prepared and tested for selective hydrogenation of 4-chlorophenol (4-CP) with H2. The difference from the previous methods is that the NOMC was synthesized using urea as nitrogen source via one-pot route. The rate constant of Pd/NOMC for hydrodechlorination of 4-CP was about 135.9 h−1 which were higher than Pd/OMC (65.6 h−1) and Pd/AC (20.8 h−1). It could be attributed to the synergetic effects of mesoporous structure, N-doped supports, and the stabilized small PdNPs. The conversion changed from 100 to 90.2% after the sixth reaction using Pd/NOMC which could be caused by the palladium leaching. [ABSTRACT FROM AUTHOR]

Fatigue cracks and fatigue damage have been important issues for ships and offshore structures for a long time. However, in the last decade, with the introduction of higher tensile steel in hull structures and increasingly large ship dimensions, the greater attention should be paid to fatigue problems. Most research focuses on how to more easily access the fatigue strength of ships. Also, the major classification societies have already released their fatigue assessment notes. However, due to the complexity of factors influencing fatigue performances, such as wave load and pressure from cargo, the combination of different stress components, stress on concentration of local structure details, means stress, and the corrosive environments, there are different specifications with varying classification societies, leading to the different results from different fatigue assessment methods. This paper established the Det Norske Veritas(DNV) classification notes 'fatigue assessment of ship structures' that explains the process of fatigue assessment and simplified methods. Finally, a fatigue analysis was performed by use data of a real ship and the reliability of the result was assessed. [ABSTRACT FROM AUTHOR]