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• The AE signals during the quiet period on the eve of brittle failure in hard rock are characterized by a greater hit amplitude, a greater rise time and ring count, a sudden increase in the cumulative absolute energy, a greater amplitude of the signals in the main frequency band, a sudden decrease in the b -value, a sudden increase in the fractal dimension and a predominance of shear-type fracture signals. • It is found that the more inhomogeneous the rock grains are, the higher the stress level is, or the larger the loading rate is, the longer the duration of the quiet period is. • A hard rock damage evolution equation using AE data considering the effect of the quiet period is proposed, which can reasonably reflect the objective of accelerating rock damage during the quiet period. Acoustic emission (AE) signals on the eve of brittle failure in hard rock often indicate a quiet period, i.e., a significant decrease in the number of AE signals. To address the current problem of the poor understanding of the quiet period, the failure process of hard rock was simulated by tests and acquired the AE signals. The AE signal during the quiet period were analyzed. First, compared with the AE signals in other loading periods, the AE signals during the quiet period are characterized by a greater hit amplitude, a greater rise time and ring count, a sudden increase in the cumulative absolute energy, a greater amplitude of the signals in the main frequency band and so on. Second, the inhomogeneity of rock grains, stress level and loading rate all have a nonnegligible influence. The more inhomogeneous the rock grains are, the higher the stress level is, or the larger the loading rate is, the longer the duration of the quiet period is. Third, a hard rock damage evolution equation based on AE considering the effect of the quiet period is proposed, which can reasonably reflect the objective fact of accelerating damage during this period. Finally, the quiet period is due to the brittle failure of hard rock with inhomogeneous grains under high stress conditions, so identifying the quiet period is important for AE-based monitoring and warning of hard rock failure. [ABSTRACT FROM AUTHOR]

The 17q12 deletion syndrome is a chromosomal anomaly resulting from the interstitial microdeletion of the long arm of chromosome 17. The aim of this study was to present the experience on prenatal diagnosis of 17q12 deletion to further define the prenatal phenotypes of this syndrome. Eleven pregnancies with foetal 17q12 deletion detected by chromosomal microarray (CMA) were retrospectively included at a single Chinese tertiary medical centre. Clinical data were reviewed for these cases, including the maternal demographics, foetal ultrasound findings, CMA results and pregnancy outcomes. The deletion sizes of 17q12 ranged from 1.42 to 1.94 Mb. The deletion had arisen de novo in 10 cases and inherited from one of the parents in one case. Variable kidney abnormalities were found by ultrasound in all of the cases, with bilateral or unilateral hyperechogenic kidneys being the most common findings. This study indicates that a strikingly high correlation between prenatal hyperechogenic kidneys and 17q12 deletion, and prenatal testing with CMA should be offered to the foetal cases of hyperechogenic kidneys. Impact statement What is already known on this subject? 17q12 deletion syndrome is a cause of renal abnormalities, maturity-onset diabetes of the young and neurodevelopmental disorders. Prenatal diagnosis has been reported in several isolated cases with the use of microarray-based technologic means. What do the results of this study add? The results provide further evidence that a strikingly high correlation between prenatal hyperechogenic kidneys and 17q12 deletion, and genetic testing should be offered to foetal cases with hyperechogenic kidneys. A rare prenatal case of 17q12 deletion with multiple structural malformations and anhydramnios is presented. What are the implications of these findings for clinical practice and/or further research? There should be a high index of suspicion of carriers in parents when 17q12 deletion is confirmed prenatally. An extremely wide phenotype spectrum of this deletion should be emphasised in the prenatal counselling. [ABSTRACT FROM AUTHOR]

The aim of this study was to evaluate which chromosomal abnormalities in our cohort of foetuses with increased nuchal translucency (NT) in the first trimester of pregnancy could be detected by cell free (cf)DNA screening as well. There were 775 singleton pregnancies referred for cytogenetic testing due to an increased NT (≥3.0 mm). Chromosome aberrations were investigated using karyotyping or chromosomal microarray analysis (CMA). Karyotyping had been chosen for foetal cytogenetic testing by 446 patients, and CMA by 329 patients. Common aneuploidies (trisomies 21, 18, 13 and sex aneuploidies) were detected in 2.2% (99/446) and 1.8% (59/329) cases, respectively. In 329 with CMA testing, clinically significant copy number variations (CNVs) other than common aneuploidies were detected in 2.7% cases; among these, five had a pathogenic microscopic CNV, which could have been detected by karyotyping. There were four cases (1.2%) having a pathogenic submicroscopic CNV, which could have been missed by karyotyping. The total CMA detection rate (23.4%) was not statistically different from that (24.2%) by karyotyping (p > .05). The percentage of chromosomal aberrations, which cfDNA screening would miss in patients with increased NT in the first trimester, might be the same as in those with normal NT. Impact statement What is already known about this topic? First trimester NT is a powerful marker for screening for common aneuploidies. cfDNA screening is more accurate than any standard screening with NT. The need of NT in the era of prenatal screening using cfDNA is debated. What does this study add? An increased NT did not identify any additional aneuploidies that were detected by cfDNA screening. What are the implications of these findings for clinical practice and/or further research? The percentage of chromosomal aberrations which cfDNA screening would miss in patients with increased NT might be the same as in those with normal NT. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 6-month-old Chinese girl with severe hemoglobin (Hb) H disease due to a deletion of major α-globin regulatory element (MCS-R2) and α-tthalassemia.. Topics include the association of Hb H disease with the homozygous deletion of MCS-R2, MCS-R2 as the key regulation factor in the expression α-globin genes, the need to investigate MCS mutations in the gene-mapping screening programs for α-thalassemia.

The combination of β-thalassemia (β-thal) and a hemoglobin (Hb) variant is not uncommon in regions with a high prevalence of thalassemia. Although most of the β-globin chain variants will not aggravate the β-thal, some can compromise the accurate molecular diagnosis. In this study, we present a rare case of coinheritance of β-thal and Hb Hornchurch [β43(CD2)Glu→Lys;HBB: c.130G>A], that compromises the molecular diagnosis of homozygous β-thal. [ABSTRACT FROM AUTHOR]

Hb H disease is generally a moderate form of α-thalassemia (α-thal) that rarely requires regular blood transfusions. In this study, two Chinese families with members carrying transfusion-dependent Hb H disease were investigated for rare mutations on the α-globin genes (HBA1,HBA2). In one family, Hb Zürich-Albisrieden [α59(E8)Gly→Arg;HBA1: c.178G>C] in combination with the Southeast Asian (– –SEA) deletion was the defect responsible for the severe phenotype. In another family, a novel hemoglobin (Hb) variant named Hb Sichuan (HBA1: c.393_394insT), causes α-thal and a severe phenotype when associated with the – –SEAdeletion. As these twoHBA1mutations can present as continuous blood transfusion-dependent α-thal, it is important to take this point into account for detecting the carriers, especially in couples in which one partner is already a known α0-thal carrier. [ABSTRACT FROM AUTHOR]

Purpose. To explore the structural progression of X-linked retinoschisis (XLRS) in patients by using spectral-domain optical coherence tomography (SD-OCT). Design. Retrospective, observational study. Methods. Patients who were diagnosed with XLRS by genetic testing underwent comprehensive ophthalmological examinations from December 2014 to October 2016. Each eye was measured by SD-OCT using the same clinical protocol. A correlation between best-corrected visual acuity (VA) and SD-OCT measurements was observed. Results. Six patients demonstrated retinoschisis (12 eyes) and typical foveal cyst-like cavities (10 eyes) on SD-OCT images with a mean logMAR VA of 0.48. The median age was 7.5 years at the initial visit. Their foveal retinal thickness (516.9 μm) and choroid thickness (351.4 μm) decreased at a rate of 38.1 and 7.5 μm, respectively, at the 10.5-month follow-up visit; however, there were no significant differences (P=0.622 and P=0.406, resp.). There was no significant correlation between VA, the foveal retinal thickness, and subfoveal choroid thickness. Conclusions. SD-OCT images for XLRS patients during the juvenile period revealed no significant changes in the fundus structure, including the foveal retinal thickness and choroid thickness within one-year follow-up. There was a lack of correlation between VA, foveal retinal thickness, and subfoveal choroid thickness. [ABSTRACT FROM AUTHOR]

A new method is developed to deblur seriously blurred images taken in a long exposure of camera in the fast motion. It is different from most of the existing deblurring methods that result in a poor quality for processing serious blur images, and few papers concerned the deblurred image quality, the authors study referenceless image quality assessment method to deblurring image. A blurred image is modelled based on a fast motion scene. Due to the consistent characteristics of direction motion blurs and ringing artefacts generated with the direct deconvolution, an adjacent‐column‐greyscale‐difference index is proposed, which combines with an effective spatial quality evaluator to reduce the artefacts and improve quality of the deconvolution image. The process of the proposed method is automatic and fast in the image deblurring, it is verified on both the synthetic‐blurred and the real‐scene‐blurred images, which outperforms the existing methods in reducing serious blurs of forward motion images. [ABSTRACT FROM AUTHOR]

The article discusses the case studies related to 49,XXXXY syndrome, a rare chromosomal aneuploidy which may include facial and skeletal malformations, genital and cardiac abnormalities, and intellectual disability. It notes a 27-year-old woman who was noticed with an isolated cystic hygroma and the pregnancy was terminated.

The article discusses the case studies related to the prenatal diagnosis of Wolf-Hirschhorn syndrome at first trimester using chromosomal microarray analysis. It notes a case of a 26-year-old nullipara who was referred to the clinic who went under the tests that showed that the fetus had a nuchal translucency along with a crown-rump. It notes that the abortion was carried out because of structural anomalies in the fetus.

We present prenatal diagnosis and chromosomal microarray analysis (CMA) of 9q34.3 microdeletion in a foetus with an increased nuchal translucency (NT). Conventional G-banding analysis showed a de novo translocation: 45, XX, dic (9;13)(q34;p13). CMA revealed a 3.6 Mb 9q34.3 microdeletion encompassing an OMIM gene of EHMT1 consistent with the diagnosis of Kleefstra syndrome and 9q subtelomeric deletion syndrome. We suggest an application of CMA at prenatal diagnosis in pregnancies with increased NT and an apparent balanced translocation on conventional karyotype. [ABSTRACT FROM AUTHOR]

Purpose: Pathological retinal angiogenesis is a major cause of vision loss. Endostatin is a natural antiangiogenesis antitumor protein that is widely used in cancer studies. In this study, we investigated the efficacy and potential mechanisms of endostatin for the prevention of retinal neovascularization both in vitro and in vivo. Methods: Human umbilical vein endothelial cells (HUVECs) were used for the in vitro studies. HUVECs were incubated with endostatin or the vascular endothelial growth factor (VEGF) and endostatin for different time points. Cell proliferation, migration, cell cycling, and tube formation studies were carried out using a Cell Counting Kit-8 assay, a Transwell assay, flow cytometry, and a Matrigel assay, respectively. Enzyme-Linked Immunosorbent Assay (ELISA) was used to study VEGF and pigment epithelial-derived factor (PEDF) protein secretion from the HUVECs at different time points. A murine oxygen-induced retinopathy (OIR) model was used for the in vivo studies. Seven-day-old C57BL/6J pups (p7) were exposed to 75% oxygen for 5 days. On p12, the animals were returned to a normal atmosphere and were immediately injected intravitreously with 1.5 μL of a 5 mg/mL endostatin solution. At p18, the mice were perfused with fluorescein-dextran-FITC, and their retinas were flat mounted to measure the nonperfused area. Retinal VEGF and PEDF levels were also measured by ELISA Kits in the OIR mice at p18. Results: In vitro, endostatin inhibited HUVEC proliferation in a dose-dependent manner and also inhibited HUVEC proliferation in a VEGF-containing medium. Additionally, endostatin can inhibit migration, tube formation, and VEGF secretion in HUVECs, while also inducing apoptosis in HUVECs at several time points. These effects were statistically significant when compared to the control group ( P<0.05). In vivo, a single intravitreous injection of endostatin reduced the retinal nonperfused area from 30% in the control group to 23% in the treatment group ( P<0.0001). Intravitrous injection of endostatin reduced VEGF levels in retinas, while it increased PEDF levels. Conclusions: Endostatin showed convincing inhibitory effects on angiogenesis both in vitro and in vivo. The inhibitory effects may be, at least partly, resulted from the restoration of the PEDF/VEGF ratio. These data suggest that endostatin could offer an innovative pharmaceutical strategy for the prevention of retinal neovascularization. [ABSTRACT FROM AUTHOR]

Porcine reproductive and respiratory syndrome virus (PRRVS) is a major swine viral pathogen that affects the pig industry worldwide. Control of early PRRSV infection is essential, and different types of PRRSV-positive samples can reflect the time point of PRRSV infection. This study aims to investigate the epidemiological characteristics of PRRSV in China from Q4 2021 to Q4 2022, which will be beneficial for porcine reproductive and respiratory syndrome virus (PRRSV)control in the swine production industry in the future. A total of 7518 samples (of processing fluid, weaning serum, and oral fluid) were collected from 100 intensive pig farms in 21 provinces, which covered all five pig production regions in China, on a quarterly basis starting from the fourth quarter of 2021 and ending on the fourth quarter of 2022. Independent of sample type, 32.1% (2416/7518) of the total samples were PCR-positive for PRRSV, including 73.6% (1780/2416) samples that were positive for wild PRRSV, and the remaining were positive for PRRSV vaccine strains. On the basis of the time of infection, 58.9% suckling piglets (processing fluid) and 30.8% weaning piglets (weaning serum) showed PRRSV infection at an early stage (approximately 90% of the farms). The sequencing analysis results indicate a wide range of diverse PRRSV wild strains in China, with lineage 1 as the dominant strain. Our study clearly demonstrates the prevalence, infection stage, and diversity of PRRSV in China. This study provides useful data for the epidemiological understanding of PRRSV, which can contribute to the strategic and systematic prevention and control of PRRSV in China. [ABSTRACT FROM AUTHOR]

A new method is developed to deblur seriously blurred images taken in a long exposure of camera in the fast motion. It is different from most of the existing deblurring methods that result in a poor quality for processing serious blur images, and few papers concerned the deblurred image quality, the authors study referenceless image quality assessment method to deblurring image. A blurred image is modelled based on a fast motion scene. Due to the consistent characteristics of direction motion blurs and ringing artefacts generated with the direct deconvolution, an adjacent-column-greyscale-difference index is proposed, which combines with an effective spatial quality evaluator to reduce the artefacts and improve quality of the deconvolution image. The process of the proposed method is automatic and fast in the image deblurring, it is verified on both the synthetic-blurred and the real-scene-blurred images, which outperforms the existing methods in reducing serious blurs of forward motion images. [ABSTRACT FROM AUTHOR]

Non-union fractures pose a significant clinical challenge, often leading to prolonged pain and disability. Understanding the molecular mechanisms underlying non-union fractures is crucial for developing effective therapeutic interventions. This study integrates bioinformatics analysis and experimental validation to unravel key genes and pathways associated with non-union fractures. We identified differentially expressed genes (DEGs) between non-union and fracture healing tissues using bioinformatics techniques. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analyses were employed to elucidate the biological processes and pathways involved. Common DEGs were identified, and a protein–protein interaction (PPI) network was constructed. Fibronectin-1 (FN1), Thrombospondin-1 (THBS1), and Biglycan (BGN) were pinpointed as critical target genes for non-union fracture treatment. Experimental validation involved alkaline phosphatase (ALP) and Alizarin Red staining to confirm osteogenic differentiation. Our analysis revealed significant alterations in pathways related to cell behavior, tissue regeneration, wound healing, infection, and immune responses in non-union fracture tissues. FN1, THBS1, and BGN were identified as key genes, with their upregulation indicating potential disruptions in the bone remodeling process. Experimental validation confirmed the induction of osteogenic differentiation. The study provides comprehensive insights into the molecular mechanisms of non-union fractures, emphasizing the pivotal roles of FN1, THBS1, and BGN in extracellular matrix dynamics and bone regeneration. The findings highlight potential therapeutic targets and pathways for further investigation. Future research should explore interactions between these genes, validate results using in vivo fracture models, and develop tailored treatment strategies for non-union fractures, promising significant advances in clinical management. [ABSTRACT FROM AUTHOR]

Early classification and risk assessment for COVID-19 patients are critical for improving their terminal prognosis, and preventing the patients deteriorate into severe or critical situation. We performed a retrospective study on 222 COVID-19 patients in Wuhan treated between January 23rd and February 28th, 2020. A decision tree algorithm has been established including multiple factor logistic for cluster analyses that were performed to assess the predictive value of presumptive clinical diagnosis and features including characteristic signs and symptoms of COVID-19 patients. Therapeutic efficacy was evaluated by adopting Kaplan–Meier survival curve analysis and cox risk regression. The 222 patients were then clustered into two groups: cluster I (common type) and cluster II (high-risk type). High-risk cases can be judged from their clinical characteristics, including: age > 50 years, chest CT images with multiple ground glass or wetting shadows, etc. Based on the classification analysis and risk factor analysis, a decision tree algorithm and management flow chart were established, which can help well recognize individuals who needs hospitalization and improve the clinical prognosis of the COVID-19 patients. Our risk factor analysis and management process suggestions are useful for improving the overall clinical prognosis and optimize the utilization of public health resources during treatment of COVID-19 patients. [ABSTRACT FROM AUTHOR]

Coinheritance of δ-globin variants along with β-globin gene defects can interfere with correct diagnosis of β-thalassemia (β-thal) trait. In this report, we present the coinheritance of a δ-globin variant, Hb A2-Tianhe [δ107(G9)Gly→Asp;HBD: c.323G>A] and a heterozygous β-thal in a Chinese individual with microcytosis, hypochromia and a normal Hb A2level. [ABSTRACT FROM AUTHOR]

We describe a new β-thalassemic mutation in a Chinese subject. This allele develops by insertion of one nucleotide (+T) between codons 138 and 139 in the third exon of the β-globin gene. The mutation causes a frameshift that leads to a termination codon at codon 139. In the heterozygote, this allele has the phenotype of classical β-thalassemia (β-thal) minor. [ABSTRACT FROM AUTHOR]

Introduction: Congenital diaphragmatic eventration (CDE) is defined as the abnormal elevation of the diaphragm, due to incomplete muscularization of the diaphragm with a thin membranous sheet replacing normal diaphragmatic muscle. Case report: We report a prenatal case with a diaphragmatic mesothelial cyst combined with CDE. Conclusion: A large cystic mass between the thoracic wall and the liver in early pregnancy is highly suggestive of cystic diaphragm. [ABSTRACT FROM AUTHOR]

Colorectal cancer (CRC) remains a significant global health issue. In this study, the role of T-cell exhaustion-related genes (TEXs) in CRC was investigated using single-cell and bulk RNA-seq analysis. This research involved extensive data analysis using multiple databases, including the TCGA-COAD cohort, GSE14333, and GSE39582. Through single-cell analysis, distinct cell populations within CRC samples were identified and classified T-cells into four subgroups: regulatory T-cells (Tregs), conventional CD4+ T-cells (CD4+ T conv), CD8+ T, and CD8+ T exhausted cells. Intercellular communication networks and signaling pathways associated with TEXs using computational tools such as CellChat and PROGENy. Additionally, TEX-related alterations in tumor gene pathways were analyzed through Gene Ontology and Kyoto Encyclopedia of Genes and Genomes analyses. Prognostic models were developed, and their correlation with immune infiltration was assessed. The study revealed the presence of distinct cell populations within CRC, with TEXs playing a crucial role in the tumor microenvironment. CD8+ T exhausted cells exhibited expression of specific markers, indicating their involvement in tumor immune evasion. CellChat and PROGENy analyses revealed intricate communication networks and signaling pathways associated with TEXs, including RNA splicing and viral carcinogenesis. Furthermore, the prognostic risk model developed on the basis of TEXs demonstrated its efficacy in stratifying CRC patients. This risk model exhibited strong correlations with immune infiltration by various effector immune cells, highlighting the influence of TEXs on the tumor immune response. The complex interactions and signaling pathways underlying TEX-associated immune dysregulation in CRC were revealed by employing advanced analytical approaches. The development of a prognostic risk model based on TEXs offers a promising tool for prognostic stratification in patients with CRC. Furthermore, the correlations observed between TEXs and immune infiltration provide valuable insights into the potential of TEXs as therapeutic targets and highlight the need for further investigation into TEX-mediated immune evasion mechanisms. This study thus provides valuable insights into the role of TEXs in CRC. [ABSTRACT FROM AUTHOR]

Many mutations in the retinoschisis (RS1) gene have been identified, but there are limited clinical data relating to the different genotypes. This study investigated the genotype, clinical phenotype and therapies for X-linked juvenile retinoschisis (XLRS) patients in China to evaluate the effects of gene mutations and therapies on the prognosis of the disease. Thirty patients were recruited in the study. Genetic examination identified 8 novel RS1 gene mutations. Twenty-four patients were identified as missense mutation, which was the most common gene mutation in XLRS patients. Amino acids 102 and 209 were the most common mutation areas, accounting for a total 35.7% of all patients. Mutations affecting amino acid 102 were associated with poor results on the flash electroretinogram (ERG). Sixteen patients had various complications. Anti-vascular endothelial growth factor (VEGF) drugs were given to four patients with hemorrhage or other complications, and serious adverse events did not occur. Our outcome demonstrates that missense mutation was the leading cause of XLRS and more than half of the patients with this missense had various complications. Anti-VEGF drugs may be an effective and safe way to prevent deterioration of XLRS with certain complications. There is wide genotypic and phenotypic variability in Chinese patients with XLRS. [ABSTRACT FROM AUTHOR]

Objectives: To develop and validate a clinical-radiomics nomogram for preoperative prediction of lung metastasis for colorectal cancer (CRC) patients with indeterminate pulmonary nodules (IPN).Methods: 194 CRC patients with lung nodules were enrolled in this study (136 in the training cohort and 58 in the validation cohort). To evaluate the probability of lung metastasis, we developed three models, the clinical model with significant clinical risk factors, the radiomics model with radiomics features constructed by the least absolute shrinkage and selection operator algorithm, and the clinical-radiomics model with significant variables selected by the stepwise logistic regression. The Akaike information criterion (AIC) was used to compare the relative strength of different models, and the area under the curve (AUC) was used to quantify the predictive accuracy. The nomogram was developed based on the most appropriate model. Decision-curve analysis was applied to assess the clinical usefulness.Results: The clinical-radiomics model (AIC = 98.893) with the lowest AIC value compared with that of the clinical-only model (AIC = 138.502) or the radiomics-only model (AIC = 116.146) was identified as the best model. The clinical-radiomics nomogram was also successfully developed with favourable discrimination in both training cohort (AUC = 0.929, 95% CI: 0.885-0.974) and validation cohort (AUC = 0.922, 95% CI: 0.857-0.986), and good calibration. Decision-curve analysis confirmed the clinical utility of the clinical-radiomics nomogram.Conclusions: In CRC patients with IPNs, the clinical-radiomics nomogram created by the radiomics signature and clinical risk factors exhibited favourable discriminatory ability and accuracy for a metastasis prediction.Key Points: • Clinical features can predict lung metastasis of colorectal cancer patients. • Radiomics analysis outperformed clinical features in assessing the risk of pulmonary metastasis. • A clinical-radiomics nomogram can help clinicians predict lung metastasis in colorectal cancer patients. [ABSTRACT FROM AUTHOR]

Stomata are one of the important structures for plants to alleviate metal stress and improve plant resistance. Therefore, a study on the effects and mechanisms of heavy metal toxicity to stomata is indispensable in clarifying the adaptation mechanism of plants to heavy metals. With the rapid pace of industrialization and urbanization, heavy metal pollution has been an environmental issue of global concern. Stomata, a special physiological structure of plants, play an important role in maintaining plant physiological and ecological functions. Recent studies have shown that heavy metals can affect the structure and function of stomata, leading to changes in plant physiology and ecology. However, although the scientific community has accumulated some data on the effects of heavy metals on plant stomata, the systematic understanding of the effects of heavy metals on plant stomata remains limited. Therefore, in this review, we present the sources and migration pathways of heavy metals in plant stomata, analyze systematically the physiological and ecological responses of stomata on heavy metal exposure, and summarize the current mechanisms of heavy metal toxicity on stomata. Finally, the future research perspectives of the effects of heavy metals on plant stomata are identified. This paper can serve as a reference for the ecological assessment of heavy metals and the protection of plant resources. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 30-year-old woman who was referred for a routine ultrasound scan at 12 weeks of gestation. It mentions the ultrasound report showed a single live foetus with crown-rump length of 63mm and a nuchal translucency thickness of 3.0 mm.; and also mentions an ultrasound showed that the biometric measurements were at the fifth percentile with an amniotic fluid index of zero.

Objective: To present the experience on prenatal diagnosis of Wolf-Hirschhorn syndrome (WHS) to further delineate the fetal presentation of this syndrome.Study Design: This was a retrospective analysis of ten pregnancies with fetal WHS identified by chromosomal microarray (CMA). Clinical data were reviewed for these cases, including maternal demographics, indications for invasive testing, sonographic findings, CMA results and pregnancy outcomes.Results: Three cases were diagnosed at the first trimester because of an increased NT or cystic hygroma. The remaining seven cases were identified at late gestation for abnormal ultrasound findings. CMA revealed 4p deletions to be terminal in all of the ten cases. Deletion sizes ranged from 2.05 to 19.02 Mb.Conclusion: Prenatal findings such as increased NT, severe and early onset intrauterine growth retardation, and renal dysplasia or oligohydramnios should warrant the diagnosis of WHS and invasive testing using CMA. [ABSTRACT FROM AUTHOR]

A Chinese family with δ-thalassemia (δ-thal) was found, in which the daughter is homozygous for δ-thal (HBD: c.-127T>C) with complete deficiency of Hb A2 and the mother is a heterozygote with low level of Hb A2. The father, however, is a heterozygote with a normal Hb A2 value due to coinheritance of a β-thalassemia (β-thal). Although no abnormal clinical or hematological findings were noted in the individuals with δ-thal, one should keep in mind that β-thal can be missed during routine preliminary screening when β-thal and δ-thal coexist in a subject. [ABSTRACT FROM AUTHOR]

PPV4 transcribes its genome from a single promoter, and the RNAs are generated via alternate splicing coupled with alternate polyadenylation, a strategy similar to that of the bocaviruses; however, several differences were detected. The PPV4 ORF1 codes for four NS proteins, while the bocavirus ORF1 codes for 1-3 NS proteins. Whereas the VP1/VP2 capsid proteins of bocavirus are encoded by a single RNA, VP1 and VP2 of PPV4 are encoded by two separate RNAs. While ORF3 of PPV4 encodes two NP proteins, ORF3 of bocavirus codes for only one NP polypeptide. Taken together, PPV4 is unique among the parvoviruses. [ABSTRACT FROM AUTHOR]

Background: The prognostic value of surgery and postoperative radiotherapy (PORT) for primary thymic neuroendocrine tumors (TNETs) was estimated using the SEER database. Methods: This retrospective study used SEER data of TNET patients between 1998 and 2015. Propensity score matching (PSM) was performed according to whether surgery was performed. The prognostic effects on overall survival (OS) and cancer‐specific survival (CSS) were evaluated using multivariate Cox regression. Results: A total of 3947 patients were included: 293 (7.4%) TNET, 2788 (70.6%) thymoma, and 866 (21.9%) thymic carcinoma. Compared to other subtypes, TNET patients were younger, included a larger proportion of men, had a well or moderately differentiated histological grade, higher disease stage at diagnosis, and were more likely to have regional lymph node metastasis. The median OS and CSS for TNET were 82.9 (95% confidence interval 74.3–91.4) and 101.9 (95% confidence interval 91.9–111.8) months, respectively, significantly shorter than for thymomas. In the matched cohort of TNET patients, multivariate analysis of OS and CSS revealed a significantly poorer prognosis in the non‐surgery group (P < 0.001). Compared to total/radical resection, TNET patients who underwent debulking resection had significantly inferior outcomes (P < 0.05). Postoperative radiotherapy favorably impacted OS and CSS in Masaoka–Koga stage III–IV TNET patients; this OS impact was also observed in stage IIB patients. Conclusion: TNETs are extremely rare with relatively dismal outcomes. This analysis revealed the role of complete surgical resection and the favorable effect of postoperative radiotherapy in specific TNET subgroups. [ABSTRACT FROM AUTHOR]

Background. Epithelial-mesenchymal transition (EMT) of retinal pigment epithelium (RPE) is vital in proliferative vitreoretinopathy (PVR) development. Apoptosis-stimulating proteins of p53 (ASPP2) have recently been reported to participate in EMT. However, the role of ASPP2 in PVR pathogenesis has not been identified. Methods. Immunohistochemistry was used to investigate the expression of ASPP2 in epiretinal membranes of PVR patients. ARPE-19 cells were transfected with ASPP2-siRNA, followed with measurement of cell cytotoxicity, proliferation, and migration ability. EMT markers and related inflammatory and fibrosis cytokines were measured by western blot or flow cytometry. Additionally, PVR rat models were induced by intravitreal injection of ARPE-19 cells transfected with ASPP2-siRNA and evaluated accordingly. Results. Immunofluorescence analysis revealed less intense expression of ASPP2 in PVR membranes. ASPP2 knockdown facilitated the proliferation and migration of RPE cells and enhanced the expression of mesenchymal markers such as alpha smooth muscle actin, fibronectin, and ZEB1. Meanwhile, ASPP2-siRNA increased EMT-related and inflammatory cytokines, including TGF-β, CTGF, VEGF, TNF-α, and interleukins. PVR severities were more pronounced in the rat models with ASPP2-siRNA treatment. Conclusions. ASPP2 knockdown promoted EMT of ARPE-19 cells in vitro and exacerbated the progression of experimental PVR in vivo, possibly via inflammatory and fibrosis cytokines. [ABSTRACT FROM AUTHOR]

B7-H4, a member of B7 family, is a transmembrane protein and inhibits T-cells immunity. However, in a variety of tumor cells, B7-H4 was detected predominantly in intracellular compartments with unknown mechanism and functions. In this study, we analyzed B7-H4 expression and subcellular distribution by immunohistochemistry in renal cell carcinoma (RCC) tissues. B7-H4 protein was detected on the membrane, in the cytosol and/or in the nucleus in tumor tissues. The membrane and nuclear expression of B7-H4 was significantly correlated with the tumor stages of RCC. Moreover, the membrane localization of B7-H4 was inversely correlated with the intensity of tumor infiltrates lymphocyte (TILs), whereas no association was observed between nuclear expression of B7-H4 and the density of TILs status. We further identified that B7-H4 is a cytoplasmic-nuclear shuttling protein containing a functional nuclear localization sequence (NLS) motif. A point mutation of B7-H4 NLS motif blocked the leptomycin B -induced nuclear accumulation of B7-H4. HEK293 cells stably expressing B7-H4 NLS mutant exhibited more potent inhibition in T-cell proliferation and cytokine production through increasing its surface expression compared with wild-type B7-H4 transfected cells owing to their increased surface expression. Most importantly, overexpression of wild-type B7-H4 in HEK293 cells enhanced tumor cell proliferation in vitro and tumorigenicity in vivo, promoted G1/S phase transition. The regulation of cell cycle by wild-type B7-H4 was partialy due to upregulation of Cyclin D 1 and Cyclin E. A mutation of B7-H4 NLS motif abolished the B7-H4-mediated cell proliferation and cell cycle regulation. Furthermore, B7-H4 wild-type confers chemoresistance activity to RCC cell lines including Caki-1 and ACHN. Our study provides a new insight into the functional implication of B7-H4 in its subcellular localization. [ABSTRACT FROM AUTHOR]

Abstract: The purpose of this study was to explore the role of Treg cells, Th17 cells and cytokines associated with Treg/Th17 differentiation in the occurrence, development and outcome of chronic hepatitis B (CHB). To do so, we detected populations of Treg and Th17 cells and their associated cytokines in the peripheral blood of CHB patients. The populations of Treg cells (CD4+CD25highCD127low T cells) and Th17 cells (CD3+CD8-IL-17+ T cells) were analyzed in 46 patients with low to moderate chronic hepatitis B (CHB-LM), 24 patients with severe chronic hepatitis B (CHB-S) and 20 healthy controls (HC) using flow cytometry. The levels of cytokines associated with Treg/Th17 differentiation, including IL-10, TGF-β1, IL-17 and IL-23, were measured by enzyme-linked immunosorbent assay (ELISA). Our study showed that the imbalance of Treg and Th17 cells might play an important role in the occurrence, development and outcome of CHB. [Copyright &y& Elsevier]

Abstract: Nested RT-PCR was used to investigate bovine viral diarrhea virus in 511 specimens collected from Chinese pigs exhibiting clinical symptoms between 2007 and 2010. Of these, 137 samples were BVDV-positive and the BVDV prevalence rate was 23.1% (9/39) in 2007, 27.7% (44/159) in 2008, 33.6% (34/101) in 2009, and 23.6% (50/212) in 2010. Twenty of 137 BVDV-positive samples were used for further genetic analysis of the 5′-UTR. Phylogenetic analysis revealed that they were BVDV-1 and subtyped into BVDV-1a, BVDV-1b, BVDV-1m, BVDV-1o and an unknown subgenotype. This study showed that BVDVs were highly prevalent in Chinese pig herds and appropriate measures should be taken to control BVDV prevalence in pig herds. [Copyright &y& Elsevier]

Purpose: In our previous study, we have found that the hypoxia-inducible factor 1α (HIF-1α) is upregulated in renal cell carcinoma (RCC) tissues compared with para-cancer normal tissues by 2-dimensional polyacrylamide gel electrophoresis. It was reported that hypoxic conditions were correlated with cancer stem cell generation and HIF-1α acted as a transcription regulator in nuclear HIF-1α expression. Therefore, in this study we investigate the relation between CD133 and nuclear HIF-1α expression levels in RCC tissues. Methods: In this study 61 RCC tissues from the patients that treated with radical nephrectomy were collected. Then, we investigated the expression of CD133 and nuclear HIF-1α expression by immunohistochemistry. To verify the relation between CD133 and nuclear HIF-1α expression, we treated 786-O cells with cobalt chloride. The expression of CD133 on 786-O cells was analyzed by flowcytometry. Results: The immunohistochemical study showed that CD133 was correlated with tumor stage and metastatic stage, whereas nuclear HIF-1α had no association with clinicopathological parameters. However, the expression of nuclear HIF-1α was correlated with CD133. The CD133 expression in 786-O cells was enhanced by cobalt chloride, which meant that CD133 expression was affected by hypoxia. Conclusions: Our study showed that in RCC, CD133 expression was strongly related to nuclear HIF-1α and the expression of CD133 might be upregulated under hypoxia environment. [ABSTRACT FROM AUTHOR]

• The NADC-30 like v2016/ZJ/09-03 used in this study was a moderately virulent PRRSV. • The VR2332 vaccine reduced the percentage of viremic pigs as well as gross lung lesions and improved average daily weight gain. • The VR2332 vaccine had superior cross-protective efficacy against NADC30-like PRRSV infection compared to the TJM-F92. The emergence of novel and variant porcine reproductive and respiratory syndrome virus (PRRSV) strains has made controlling this disease a challenge in China. Several NADC30-like PRRSV outbreaks have occurred in mainland China since 2013. The objective of the present study was to evaluate the cross-protection efficacy of two commercial PRRS modified-live virus (MLV) vaccines, derived from classical PRRSV (VR2332) and highly pathogenic (HP) PRRSV (TJM-F92), against an increasingly circulating NADC30-like lineage in pigs. Thirty-five PRRSV- and antibody-free pigs were randomly divided into the following four groups: strict control (SC), negative control (NC), Boehringer control (BC), and Zoetis control (ZC) groups. The NADC30-like PRRSV used in this study caused fever, clinical respiratory signs, and gross and microscopic lung lesions in inoculated pigs in the NC group. Vaccination with the VR2332 vaccine significantly reduced the percentage of viremic pigs as well as gross lung lesions and improved average daily weight gain compared to the ZC and NC groups, suggesting that this MLV vaccine provides cross-protection against the NADC30-like virus. There were no significant differences in the efficacy of the two MLV vaccines based on clinical scores, immunological responses, or pathological outcomes. This study demonstrated that VR2332 MLV was effective against circulating NADC30-like PRRSV and could be used to control NADC30-like virus infections in the field. [ABSTRACT FROM AUTHOR]