A Deep-Learning-Based Method Can Detect Both Common and Rare Genetic Disorders in Fetal Ultrasound.

A global survey indicates that genetic syndromes affect approximately 8% of the population, but most genetic diagnoses can only be performed after babies are born. Abnormal facial characteristics have been identified in various genetic diseases; however, current facial identification technologies cannot be applied to prenatal diagnosis. We developed Pgds-ResNet, a fully automated prenatal screening algorithm based on deep neural networks, to detect high-risk fetuses affected by a variety of genetic diseases. In screening for Trisomy 21, Trisomy 18, Trisomy 13, and rare genetic diseases, Pgds-ResNet achieved sensitivities of 0.83, 0.92, 0.75, and 0.96, and specificities of 0.94, 0.93, 0.95, and 0.92, respectively. As shown in heatmaps, the abnormalities detected by Pgds-ResNet are consistent with clinical reports. In a comparative experiment, the performance of Pgds-ResNet is comparable to that of experienced sonographers. This fetal genetic screening technology offers an opportunity for early risk assessment and presents a non-invasive, affordable, and complementary method to identify high-risk fetuses affected by genetic diseases. Additionally, it has the capability to screen for certain rare genetic conditions, thereby enhancing the clinic's detection rate.

Telemedicine for Preventing and Treating Pressure Injury After Spinal Cord Injury: Systematic Review and Meta-analysis.

BACKGROUND: Pressure injury is a common complication after a spinal cord injury. Long-term multidisciplinary follow-up is difficult after such patients have been discharged. Telemedicine promises to provide convenient and effective support for the prevention and treatment of pressure injury, but previous attempts to demonstrate that have produced inconsistent results. OBJECTIVE: The aim of this study is to evaluate the effectiveness of telemedicine in preventing and treating pressure injury among community-dwelling patients with spinal cord injury, and determine which telemedicine form is more effective. METHODS: This systematic review was performed according to the PRISMA-NMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Network Meta-Analysis) standards. Ten databases were searched to identify randomized controlled trials and quasi-experimental studies related to the effectiveness of telemedicine intervention in patients with spinal cord injury. Two researchers worked independently and blindly selected studies, extracted data, and assessed the risk of bias. The results were described as relative risk (RR) and weighted mean difference and 95% CI. RESULTS: The 35 studies comprised 25 randomized controlled trials and 10 quasi-experimental studies involving 3131 patients. The results showed that telemedicine can significantly (P<.05) reduce the incidence of pressure injury (RR 0.24, 95% CI 0.14-0.41; P<.05; I2=0%), promote faster healing (RR 0.73, 95% CI 0.62-0.85; P<.05; I2=0%), and yield lower scores on the pressure ulcer scale of healing (weighted mean difference=-1.98, 95% CI -3.51 to -0.46; P<.05; I2=0%). Cumulative ranking estimates showed that combining telemedicine with conventional intervention (93.5%) was the most effective approach. CONCLUSIONS: Telemedicine is a feasible way to prevent pressure injury among patients with spinal cord injuries. It can decrease the incidence and severity of pressure injury and accelerate patients' healing without imposing economic burden. It is best used in tandem with other, more conventional interventions. Due to the limited quality and quantity of included studies, large-scale and well-designed randomized controlled trials are warranted.

The strategy for estrogen receptor mediated-risk assessment in environmental water: A combination of species sensitivity distributions and in silico approaches.

Risk assessment for molecular toxicity endpoints of environmental matrices may be a pressing issue. Here, we combined chemical analysis with species sensitivity distributions (SSD) and in silico docking for multi-species estrogen receptor mediated-risk assessment in water from Dongjiang River, China. The water contains high levels of phenolic endocrine-disrupting chemicals (PEDCs) and phthalic acid esters (PAEs). The concentration of ∑4PEDCs and ∑6PAEs ranged from 2202 to 3404 ng/L and 834-4368 ng/L, with an average of 3241 and 2215 ng/L, respectively. The SSD approach showed that 4-NP, BPA, E2 of PEDCs, and DBP, DOP, and DEHP could severely threaten the aquatic ecosystems, while most other target compounds posed low-to-medium risks. Moreover, binding affinities from molecular docking among PEDCs, PAEs, and estrogen receptors (ERα, Erß, and GPER) were applied as toxic equivalency factors. Estrogen receptor-mediated risk suggested that PEDCs were the main contributors, containing 53.37-69.79% of total risk. They potentially pose more severe estrogen-receptor toxicity to zebrafish, turtles, and frogs. ERß was the major contributor, followed by ERα and GPER. This study is the first attempt to assess the estrogen receptor-mediated risk of river water in multiple aquatic organisms. The in silico simulation approach could complement toxic effect evaluations in molecular endpoints.

Regulation of Transcription Factor YAP-TEAD by Non-coding RNA LINC00857 and the Inhibitory Effects on Ovarian Cancer Cell Proliferation.

This study was aimed to explore the expression and mechanism of the transcription factor YAP-TEAD in the Hippo signaling pathway under the regulation of non-coding Ribonucleic Acid (RNA) LINC00857 in the proliferation of ovarian cancer cells, so as to provide a scientific research basis for clinical diagnosis and treatment of ovarian cancer. In the study, the ovarian cancer cell lines (BT 549) were rolled into a control group (normal culture-defined as BT549/NC) and a response group (transfected with non-coding RNA LINC00857 cultured cells-defined as BT 549YAP cells). The expression and proliferation ability of the transcription factor YAP-TEAD in the two groups of cancer cells were analyzed and compared. The results showed that the YAP-TEAD expression rate was the highest in Bt549 cells; the YAP content grade (0.18) in BT 549-YAP cells was lower than BT 549/NC (0.2) after transfection (P< 0.05); and the apoptotic rate of the response group (80%) was higher than that of the control group (25%) after the intervention. With the extension of culture time, the expression of CCN1 mRNA decreased (P< 0.05), and CCN2 mRNA increased (P< 0.05). After 12, 24, 36, and 48 hours, the apoptosis rate of the reaction group at different time points was higher than that of the control group (P< 0.01). When YAP-TEAD was down-regulated, the in vitro proliferation ability of BT 549-YAP cells was weakened compared with BT 549/NC and parental cells. It was concluded that the non-coding RNA LINC00857 can target the transcription factor YAP-TEAD in the Hippo signaling pathway to decrease its expression, thus inhibiting the proliferation, migration, and invasion of cancer cells, and promoting cell apoptosis.

Ecological and AhR-mediated risk assessment of polycyclic aromatic hydrocarbons and polybrominated diphenyl ethers on multiple aquatic species in river water: A combined chemical analysis and in silico approach.

Assessing the adverse health risks at molecular endpoints to various aquatic organisms could be an urgent issue. In this manuscript, the ecological and AhR-mediated risk of sixteen polycyclic aromatic hydrocarbons (PAHs) and six polybrominated diphenyl ethers (PBDEs) in surface water of Dongjiang River, Southern China was evaluated using chemical analysis and in silico approaches. Average concentrations of ∑16PAHs and ∑6PBDEs were 586.3 ng/L and 2.672 ng/L in the dry season (DS), and 366.8 ng/L and 2.554 ng/L in the wet season (WS). Concentrations of PAHs during the DS were significantly higher than that in the WS, while no obvious seasonal distribution was observed for PBDEs. Only Ant and BaP in all congers of PAHs posed low to medium ecological risks, and PBDEs posed a low ecological risk. Moreover, AhR-mediated risk from PAHs was two orders of magnitude higher that from PBDEs, and the AhR-mediated toxicity on frog and eel were higher than those on other aquatic organisms in Dongjiang River. Phe and BDE209 were the significant contributor to the AhR-mediated risk induced by PAHs and PBDEs, respectively. This study is the first attempt to assess AhR-mediated risk of river water in multiple aquatic organisms.

Cross-cultural and psychometric property assessment of the Moorong Self-Efficacy Scale in Chinese patients with spinal cord injury.

PURPOSE: To translate the Moorong Self-Efficacy Scale (MSES) into Chinese and to examine its reliability and validity in patients with spinal cord injury (SCI). METHODS: A cross-sectional study design was employed. The MSES was translated into Chinese by forward- and back-translation and its psychometric properties were examined among 176 patients with SCI recruited from four rehabilitation centers in China using convenience sampling. RESULTS: In this study, all 176 patients were aged from 18 to 90 years old with an average of 39.51 ± 14.07. The content validity index of the scale was 0.99. Principal components analysis with varimax orthogonal rotation was used. Three factors were extracted accounting for 39.083%, 11.149%, and 8.391% of the total variance and labeled as general self-efficacy (eight items), social self-efficacy (five items), and self-management self-efficacy (three items). Confirmatory factor analysis showed acceptable fit compared with previous studies. Pearson's correlation coefficient between the total scores of the MSES and the General Self-Efficacy Scale was 0.660 (p < 0.001). Cronbach's α coefficient was 0.892 for total items and 0.862, 0.817, and 0.739 for the three factors. The interclass correlation coefficients between the pretest and retest were 0.859 (0.733-0.925) for the total score. CONCLUSIONS: The Chinese version of the MSES is reliable and valid, suggesting that it is suitable for evaluating self-efficacy of Chinese patients with SCI.Implications for rehabilitationThe satisfactory reliability and validity of the Chinese version of the Moorong Self-Efficacy Scale (MSES) confirmed its suitability as a tool to measure self-efficacy among Chinese patients with spinal cord injury (SCI).The Chinese version of the MSES could be used to reflect the important and specific aspects of self-efficacy in patients with SCI such as self-care, social interaction, and daily activities, and to help medical stuff giving more targeted intervention.

FAT-Net: Feature adaptive transformers for automated skin lesion segmentation.

Skin lesion segmentation from dermoscopic image is essential for improving the quantitative analysis of melanoma. However, it is still a challenging task due to the large scale variations and irregular shapes of the skin lesions. In addition, the blurred lesion boundaries between the skin lesions and the surrounding tissues may also increase the probability of incorrect segmentation. Due to the inherent limitations of traditional convolutional neural networks (CNNs) in capturing global context information, traditional CNN-based methods usually cannot achieve a satisfactory segmentation performance. In this paper, we propose a novel feature adaptive transformer network based on the classical encoder-decoder architecture, named FAT-Net, which integrates an extra transformer branch to effectively capture long-range dependencies and global context information. Furthermore, we also employ a memory-efficient decoder and a feature adaptation module to enhance the feature fusion between the adjacent-level features by activating the effective channels and restraining the irrelevant background noise. We have performed extensive experiments to verify the effectiveness of our proposed method on four public skin lesion segmentation datasets, including the ISIC 2016, ISIC 2017, ISIC 2018, and PH2 datasets. Ablation studies demonstrate the effectiveness of our feature adaptive transformers and memory-efficient strategies. Comparisons with state-of-the-art methods also verify the superiority of our proposed FAT-Net in terms of both accuracy and inference speed. The code is available at https://github.com/SZUcsh/FAT-Net.

Clinicopathologic characteristics and EGFR mutations in lung cancer patients aged below 45 years.

Patients aged ≤45 years are rarely diagnosed as lung cancer. Therefore, this paper describes a retrospective study which was conducted to understand the clinicopathologic characteristics and epidermal growth factor receptor (EGFR) mutations in these young lung cancer patients. All patients diagnosed as lung cancer from January 2014 to December 2016 at Huai'an First People's Hospital were enrolled in this study. Their clinicopathologic manifestations and EGFR mutations were recorded, and the difference between those aged less than 45 years and those aged above 45 years was compared. A total of 1472 patients were enrolled in this study, including 73 (4.95%) younger patients (≤45 years old) and 1399 older patients (>45 years old). The proportions of female patients (57.5% vs 32.2%, P = 0.000), nonsmokers (79.5% vs 54.2%, P = 0.000), and adenocarcinoma (72.6% vs 54.8%, P = 0.000) were higher in the younger group, while the primary location of lung cancer and the selection of surgical treatment showed no significant difference between the 2 groups. Among all 1472 patients, there were 1410 cases of nonsmall cell lung carcinoma (NSCLC), whose stage distribution was significantly different between the 2 groups (stage I/II and carcinoma in situ: 38.0% vs 40.1%; stage III/IV: 62.0% vs 52.4%, P = 0.047). There was no significant difference in the number of T stage and N stage cases between the 2 groups. The EGFR mutation rate and overall survival were not significantly different between the 2 groups. In conclusion, lung cancer in young patients (≤45 years old) was associated with unique characteristics, with greater percentages of female patients, adenocarcinoma, nonsmokers, and advanced tumor stage.

Luteolin Ameliorates Experimental Chronic Pancreatitis Induced by Trinitrobenzenesulfonic Acid in Rats.

OBJECTIVES: The purpose of this study is to assess the effect and possible mechanism of luteolin on chronic pancreatitis (CP). METHODS: Trinitrobenzenesulfonic acid-induced CP was used as CP models in vivo. After the intervention of luteolin for 28 days, chronic pancreatic injury was assessed by serum hydroxyproline and pancreatic histology. α-Smooth muscle actin (α-SMA) expression was performed to detect the activation of pancreatic stellate cells (PSCs). Pancreatic stellate cells were also isolated and cultured in vitro, and the effect of luteolin on PSCs was evaluated. Transforming growth factor ß (TGF-ß1) signaling and its regulated mRNA expression was tested by Western blot and quantitative real-time polymerase chain reaction, respectively. RESULTS: The protective role of luteolin on CP was confirmed by increased pancreas/body weight ratio, decreased pancreas hydroxyproline level, and reduced fibrosis. α-SMA expressions in PSCs were significantly decreased both in vitro and in vivo after the management of luteolin. Pancreas TGF-ß1 expression was significantly decreased by luteolin. Luteolin inhibited the proliferation and activation of PSCs in a dose-dependent manner. CONCLUSIONS: Luteolin played a protective role in CP in many aspects, partly by regulating release of inflammatory cytokines through TGF-ß1 signaling pathway.

[Peak inspiratory flow generated through different analogue dry powder inhalers in Shenzhen healthy preschool children].

OBJECTIVE: Dry powder inhalers (DPIs) are increasingly being used to deliver drugs for the treatment of asthma. It is known that DPIs require a crucial minimal inspiratory flow. Previous studies have demonstrated that the peak inspiratory flow (PIF, L/min) through a DPI is dependent on the type of device, the age of the patient, and the level of bronchial obstruction. However, the peak inspiratory flow of healthy preschool children in China remains scant in the literature. The present study aimed to analyze the ability of inspiring flow through the resistance state of ordinary use inhaler in Shenzhen healthy preschool children by measuring the peak inspiratory flow through the different analogue dry powder inhalers and go further into the relationship between it and the age, weight and forced expiratory volume of the children. METHOD: A survey in 370 healthy preschool children aged 3 to 6 years (75 children aged 3 years, 104 children aged 4 years, 100 children aged 5 years and 91 children aged 6 years) was carried out in Shenzhen. Peak inspiratory flow (PIF) was measured without and with resistances, which mimicked the internal resistances of several inhalers, Diskus, Turbuhaler, Autohaler, Surehaler by PIF meter (In-check DIAL) and then data PIF-N, PIF-D, PIF-T, PIF-A and PIF-S were obtained. Peak expiratory flow (PEF) was measured by PEF meter (MicroPeak, USA). These two measurements were made in a well-controlled setting, and at least three attempts were recorded to establish maximum achievement. Six spirometry parameters forced vital capacity (FVC), forced expiratory volume at 0.5 second (FEV 0.5), forced expiratory volume at 0.75 second (FEV 0.75), forced expiratory volume at one second (FEV1), maximal mid expiratory flow rate (FEF 25 - 75, PEF were measured by using COSMED spirometry of Italy and the FVC measurements should be around the quality control for spirometry in preschool children which we suggested and published in 2005. All data were expressed as mean +/- SD and analyzed with the statistical software SPSS 12.0 for Windows. Pearson's test was used for calculation of the significances of the correlation coefficients. Variance analysis was used for analysing the variability of inspiratory flows through the inhalers. RESULTS: Results were obtained from 295 children aged 3 - 6 years who successfully finished the tests. The PIF-N, PIF-D, PIF-T, PIF-A and PIF-S were significantly different among the groups aged 3 yrs, 4 yrs, 5 yrs and 6 yrs. The peak inspiratory flow significantly increased with age. The PIF-N, PIF-D, PIF-T, PIF-A and PIF-S in the children of 110 cm height and above were significantly higher than those in the children below 110 cm height, so were the parameters between the children of 120 cm height and above and the children below 120 cm. PIF correlated significantly with age, height and weight and the Pearson coefficient was 0.3 - 0.5. The PIFs in different inhalers varied because of the different inner resistances. The minimum and optimum PIFs in resistances of Diskus, Autohaler and Surehaler could be achieved in almost all subjects, but those in resistances of Turbuhaler could be achieved in only 87.5% subjects, most of whom aged 3 yrs or below 100 cm height. There were good correlations between the PIFs in different resistances and main parameters of ventilation function (FVC, FEV 0.5, FEV 0.75, FEV1, FEF 25 - 75, PEF), PEF was the best among them (Pearson correlative coefficient was 0.6). CONCLUSION: The inspiratory ability of the children can be predicted and assessed by using routine measurement of lung function of normal pre-school children. As to the pre-school children of varying ages, the variety of inspiratory ability should be considered completely in the selection of inhaler used during the treatment. The best inhaler suitable for them should be selected properly in order to obtain the best efficacy of treatment individually.

[Feasibility and predicted equations of spirometry in Shenzhen preschool children].

UNLABELLED: Morbidity of chronic lung disease in young children is relatively high, and could increase in the future. Pulmonary function testing is used for clinical assessment of patients with suspected or obvious pulmonary disease to assess the severity of dysfunction and to evaluate therapeutic effectiveness. In the recent few years, forced expiratory parameters assessing lung function have been measured in older children. In order to assess abnormalities of lung function in preschool patients with respiratory disorders based on changes of forced expiratory parameters, adequate reference values are needed. However, such data in healthy preschool children remain scant in the literature. OBJECTIVE: The aim of this study was to characterize the spirometry of preschool children and establish the normal lung function prediction equations for Chinese preschool children. METHODS: A survey in 343 healthy preschool children (184 boys and 159 girls) aged 3 to 6 years (73 children aged 3 years, 96 children aged 4 years, 91 children aged 5 years and 83 children aged 6 years) was carried out in Shenzhen in 2004. Eleven flow volume tests parameters, i.e., forced vital capacity (FVC), forced expiratory volume at 0.5 second (FEV(0.5)), forced expiratory volume at 0.75 second (FEV(0.75)), forced expiratory volume at one second (FEV(1)), maximal mid expiratory flow rate (FEF(25%-75%)), peak expiratory flow (PEF), forced expiratory time (FET100%) were measured by using COSMED spirometry produced in Italy. Stepwise multiple regressions and non-linear regressions were carried out with the statistical software SPSS10.0 for Windows to identify the best predictors of lung function parameters using standing height, weight, age and gender as potential determinants. RESULTS: Spirometric tests could be successfully carried out by using imagery methods in the following percentages of children: 69.9% of 3 to 4 years old, 70.8% of 4 to 5 years old, 92.3% of 5 to 6 years old and 91.6% of 6 to 7 years old children, 77.7% of the selected population (217/279) of children performed at least two acceptable tests respectively. The average forced expiratory time (FET) was 1.61 +/- 0.52 sec (x +/- s), the 5th percentile value was 0.9 sec, 18 of 279 (6.5%) children produced a FET less than 1 second. Forced expiratory volume in 0.50 and 0.75 sec (FEV(0.5), FEV(0.75)) were thus measured necessary in preschool children. All lung volumes and flow rates increased with age, height as well as weight growth in both gender groups. The correlation among most lung function parameters was higher in height than in age and weight in boys. Whereas the correlation among most lung function parameters was higher in age than in height and weight in girls. The regression equations of lung function were established. By comparison with the equations derived from this study and from studies by Nystad, it was found that there was a difference between the predicted values. CONCLUSION: Spirometric testing is feasible in preschool children by using imagery methods and may be useful for both clinical practice and research. The correlation among most lung function parameters was higher in height than in age and weight in boys. Whereas the correlation among most lung function parameters was higher in age than in height and weight in girls.