The genetic diversity among strawberry breeding resources based on SSRs

Cultivated strawberry (Fragaria × ananassa Duch.) is a high value horticultural crop. In this study, the genetic diversity of 160 strawberry accessions was determined using five highly polymorphic simple sequence repeat (SSR) markers. Sixty different alleles were identified, with allele frequencies in the range of 0.006 to1. Similarity scores were in the range of 0.034 to 0.963 (average: 0.507). The accessions were categorized into five groups. Group 1 contained two diploid Fragaria vesca species and one unknown accession. Group 2 contained one accession (F x ananassa). Group 3 contained 20 F × ananassa accessions and six unknown accessions. Group 4 contained 48 F. × ananassa accessions, one octaploid Fragaria chiloensis species, and six unknown accessions while Group 5 contained 69 F. × ananassa accessions and six unknown accessions. Accessions within a pedigree were frequently grouped together. A total of 30 novel accessions were categorized alongside existing accessions. These results will allow breeders to develop strategies which incorporate more genetic diversity into new cultivars

Longitudinal change in arterial stiffness after delivery in women with preeclampsia and normotension: a prospective cohort study

Background Preeclampsia is associated with increased arterial stiffness during pregnancy. However, data on the longitudinal change in arterial stiffness after delivery in women with preeclampsia are lacking. In this pilot study, we aimed to examine the longitudinal change in arterial stiffness using the cardio-ankle vascular index after delivery in women with preeclamptic and normotensive pregnancies. Methods We enrolled pregnant women with preeclampsia (n = 37) and normotension (n = 36) who gave birth at Seoul National University Bundang Hospital between March 2013 and May 2016, and followed-up at day 1, 6 months, and 12 months after delivery. The longitudinal change in the cardio-ankle vascular index and other variables (blood pressure, lipid profiles, serum creatinine, and liver enzymes) were compared between the two groups using the mixed-effects model, and interactions among the main predictors were examined. Results The longitudinal change in the cardio-ankle vascular index did not significantly differ between the two groups (β = 0.11, 95% CI: − 0.31–0.54, p = 0.60). Predictors of the longitudinal change in the cardio-ankle vascular index included age, time since delivery, body mass index, and diabetes mellitus. Women with preeclampsia showed significantly elevated blood pressure, lipid profiles, serum creatinine, and liver enzymes compared to women with normotension over the course of 1 year of follow-up. Conclusions Preeclampsia is associated with unfavorable blood pressure and metabolic indices after delivery. However, we found no difference in the longitudinal change in arterial stiffness between women with preeclampsia and normotension over the course of 1 year after delivery. Trial registration Retrospectively registered at ClinicalTrials.gov on October 29, 2019 ( NCT04142268 ).This study was supported by a grant from the Seoul National University Bundang Hospital Research Fund (02–2013-077). The funding institution had no role in the design, conduct, analysis, and interpretation of the findings, or in the decision to publish

miR-373-3p Regulates Invasion and Migration Abilities of Trophoblast Cells via Targeted CD44 and Radixin

Preterm labor (PTL) is one of the obstetric complications, and is known to be associated with abnormal maternal inflammatory response and intrauterine inflammation and/or infection. However, the expression of specific miRNAs associated with PTL is not clear. In this study, we performed combination analysis of miRNA array and gene array, and then selected one miRNA (miR-373-3p) and its putative target genes (CD44 and RDX) that exhibited large expression differences in term and PTL placentas with or without inflammation. Using qRT-PCR and luciferase assays, we confirmed that miR-373-3p directly targeted CD44 and RDX. Overexpression of miR-373-3p reduced the migration and invasion of trophoblast cells, while inhibition of miR-373-3p restored the migration and invasion abilities of trophoblast cells. Finally, we validated the expression of miR-373-3p and its target genes in clinical patients’ blood. miR-373-3p was increased in PTL patients’ blood, and was the most expressed in PTL patients’ blood with inflammation. In addition, by targeting the miR-373-3p, CD44 and RDX was decreased in PTL patients’ blood, and their expression were the lowest in PTL patients’ blood with inflammation. Taken together, these findings suggest that miR-373-3p and its target genes can be potential biomarkers for diagnosis of PTL

Urinary APE1/Ref-1: A Potential Bladder Cancer Biomarker

Bladder cancer (BCa) is one of the most common urothelial cancers with still noticeable incidence rate. Early detection of BCa is highly correlated with successful therapeutic outcomes. We previously showed that apurinic/apyrimidinic endonuclease 1/redox factor-1 (APE1/Ref-1) was expressed at an increased level in the serum of BCa patients when compared to the level in healthy controls. In this study, we investigated whether urinary APE1/Ref-1 was also elevated in patients with BCa. In this case-control study, voided urine was collected from 277 subjects including 169 BCa patients and 108 non-BCa controls. Urinary APE1/Ref-1 level was assessed by enzyme-linked immunosorbent assay (ELISA). APE1/Ref-1 levels were significantly elevated in BCa patients relative to levels in non-BCa controls and were correlated with tumor grade and stage. Urinary APE1/Ref-1 levels were also higher in patients with recurrence history of BCa. The receiver operating characteristics (ROC) curve of APE1/Ref-1 showed an area under the curve of 0.83, indicating the reliability and validity of this biomarker. The optimal combination of sensitivity and specificity was determined to be 82% and 80% at a cut-off value of 0.376 ng/100 μL for detection of APE1/Ref-1 in urine. In conclusion, urinary APE1/Ref-1 levels measured from noninvasively obtained body fluids would be clinically applicable for diagnosis of BCa

Small Bowel Capsule Endoscopy within 6 Hours Following Bowel Preparation with Polyethylene Glycol Shows Improved Small Bowel Visibility

Although bowel preparation influences small bowel visibility for small bowel capsule endoscopy (SBCE), the optimal timing for bowel preparation has not been established yet. Thus, the aim of the study was to evaluate the optimal timing of polyethylene glycol (PEG) for small bowel preparation before SBCE. This multicenter prospective observational study was conducted on patients who underwent SBCE following bowel preparation with polyethylene glycol (PEG). Patients were categorized into three groups according to the time used for completing PEG ingestion: group A, within 6 h; group B, 6–12 h; and group C, over 12 h. The percentage of unclean segment in small bowel (unclean image duration / small bowel transit time × 100) and small bowel visibility quality (SBVQ) were evaluated according to the time interval between the last ingestion of PEG and swallowing of small bowel capsule endoscope. A total of 90 patients were enrolled and categorized into group A (n = 40), group B (n = 27), and group C (n = 23). The percentage of unclean segment in the entire small bowel increased gradually from group A to C (6.6 ± 7.6% in group A, 11.3 ± 11.8% in group B, and 16.2 ± 10.7% in group C, p = 0.001), especially in the distal small bowel (11.4 ± 13.6% in group A, 20.7 ± 18.7% in group B, and 29.5 ± 16.4% in group C, p p p < 0.001). Completing PEG ingestion within 6 h prior to SBCE could enhance small bowel visibility

Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases

Background X-linked spondyloepiphyseal dysplasia tarda (SEDT-XL) is a skeletal disorder characterized by defective structures of vertebral bodies and/or of epiphyses of the long bones, resulting in moderately short stature and early joint degeneration. TRAPPC2 gene, which is important for collagen secretion, has been reported as causative for SEDT-XL. Case presentation Here, we report two variants of TRAPPC2 gene of SEDT-XL patients, a missense variant of start codon, c.1A > T, and a deletion variant, c.40delG. To understand molecular consequence of the variants, we establish an in vitro gene expression assay system and demonstrate that both mutated genes are transcribed, but are not properly translated, indicative of the pathogenic nature of those TRAPPC2 variants. Conclusions In the current study, we provide additional experimental data showing that loss-of-function TRAPPC2 variants are probably causative for SEDT-XL phenotype. These findings further contribute to the understanding the clinical picture related to TRAPPC2 gene.TJC is supported by National Research Foundation (NRF) funded by the Ministry of Science, ICT & Future Planning of the Korean government (NRF2014M3C9A2064684: Genome Technology to Business Translation Program), which has been used for the patient recruitment and care, and determining genetic variants. YK is supported by NRF funded by the Ministry of Science, ICT & Future Planning of the Korean government (NRF-2014M3C9A2064688: Genome Technology to Business Translation Program and RF2016R1A5A1011974), which have been used for validation of the pathogenicity of identified variants and in vitro functional studies. All the decisions regarding to the current studies are made by authors, not by funders. The funders are not involved in the study design, data collection and analysis, performing experiments and in writing the manuscript

Deep learning model for tongue cancer diagnosis using endoscopic images

In this study, we developed a deep learning model to identify patients with tongue cancer based on a validated dataset comprising oral endoscopic images. We retrospectively constructed a dataset of 12,400 verified endoscopic images from five university hospitals in South Korea, collected between 2010 and 2020 with the participation of otolaryngologists. To calculate the probability of malignancy using various convolutional neural network (CNN) architectures, several deep learning models were developed. Of the 12,400 total images, 5576 images related to the tongue were extracted. The CNN models showed a mean area under the receiver operating characteristic curve (AUROC) of 0.845 and a mean area under the precision-recall curve (AUPRC) of 0.892. The results indicate that the best model was DenseNet169 (AUROC 0.895 and AUPRC 0.918). The deep learning model, general physicians, and oncology specialists had sensitivities of 81.1%, 77.3%, and 91.7%; specificities of 86.8%, 75.0%, and 90.9%; and accuracies of 84.7%, 75.9%, and 91.2%, respectively. Meanwhile, fair agreement between the oncologist and the developed model was shown for cancer diagnosis (kappa value = 0.685). The deep learning model developed based on the verified endoscopic image dataset showed acceptable performance in tongue cancer diagnosis.N