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  • 1
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    Genetic Confirmation and Identification of Novel Variants for Glanzmann Thrombasthenia and Other Inherited Platelet Function Disorders: A Study by the Korean Pediatric Hematology Oncology Group (KPHOG)
    MDPI AG ; 2021
    In:  Genes Vol. 12, No. 5 ( 2021-05-06), p. 693-
    Details
    In: Genes, MDPI AG, Vol. 12, No. 5 ( 2021-05-06), p. 693-
    Abstract: The diagnosis of inherited platelet function disorders (IPFDs) is challenging owing to the unavailability of essential testing methods, including light transmission aggregometry and flow cytometry, in several medical centers in Korea. This study, conducted by the Korean Pediatric Hematology Oncology Group from March 2017 to December 2020, aimed to identify the causative genetic variants of IPFDs in Korean patients using next-generation sequencing (NGS). Targeted exome sequencing, followed by whole-genome sequencing, was performed for diagnosing IPFDs. Of the 11 unrelated patients with suspected IPFDs enrolled in this study, 10 patients and 2 of their family members were diagnosed with Glanzmann thrombasthenia (GT). The variant c.1913+5G 〉 T of ITGB3 was the most common, followed by c.2333A 〉 C (p.Gln778Pro) of ITGB2B. Known variants of GT, including c.917A 〉 C (p.His306Pro) of ITGB3 and c.2975del (p.Glu992Glyfs*), c.257T 〉 C (p.Leu86Pro), and c.1750C 〉 T (p.Arg584*) of ITGA2B, were identified. Four novel variants of GT, c.1451G 〉 T (p.Gly484Val) and c.1595G 〉 T (p.Cys532Phe) of ITGB3 and c.1184G 〉 T (p.Gly395Val) and c.2390del (p.Gly797Valfs*29) of ITGA2B, were revealed. The remaining patient was diagnosed with platelet type bleeding disorder 18 and harbored two novel RASGRP2 variants, c.1479dup (p.Arg494Alafs*54) and c.813+1G 〉 A. We demonstrated the successful application of NGS for the accurate and differential diagnosis of heterogeneous IPFDs.
    Type of Medium: Online Resource
    ISSN: 2073-4425
    URL: Article
    DOI: 10.3390/genes12050693
    Language: English
    Publisher: MDPI AG
    Publication Date: 2021
    detail.hit.zdb_id: 2527218-4
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  • 2
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    Correlation between Collagen Type I/III Ratio and Scar Formation in Patients Undergoing Immediate Reconstruction with the Round Block Technique after Breast-Conserving Surgery
    MDPI AG ; 2023
    In:  Biomedicines Vol. 11, No. 4 ( 2023-04-04), p. 1089-
    Details
    In: Biomedicines, MDPI AG, Vol. 11, No. 4 ( 2023-04-04), p. 1089-
    Abstract: The aim of this study was to investigate the relationship between the collagen type I/III ratio and scarring in patients who underwent immediate reconstruction with the round block technique (RBT) after breast conservation surgery. Seventy-eight patients were included, and demographic and clinical characteristics were recorded. The collagen type I/III ratio was measured using immunofluorescence staining and digital imaging, and scarring was assessed using the Vancouver Scar Scale (VSS). The mean VSS scores were 1.92 ± 2.01 and 1.79 ± 1.89, as assessed by two independent plastic surgeons, with good reliability of the scores. A significant positive correlation was found between VSS and the collagen type I/III ratio (r = 0.552, p 〈 0.01), and a significant negative correlation was found between VSS and the collagen type III content (r = −0.326, p 〈 0.05). Multiple linear regression analysis showed that the collagen type I/III ratio had a significant positive effect on VSS (β = 0.415, p = 0.028), whereas the collagen type I and collagen type III content had no significant effect on VSS. These findings suggest that the collagen type I/III ratio is associated with scar development in patients undergoing RBT after breast conservation surgery. Further research is needed to develop a patient-specific scar prediction model based on genetic factors affecting the collagen type I/III ratio.
    Type of Medium: Online Resource
    ISSN: 2227-9059
    URL: Article
    DOI: 10.3390/biomedicines11041089
    Language: English
    Publisher: MDPI AG
    Publication Date: 2023
    detail.hit.zdb_id: 2720867-9
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  • 3
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    Hematopoietic Stem Cell Transplantation-Associated Neurological Complications and Their Brain MR Imaging Findings in a Pediatric Population
    MDPI AG ; 2021
    In:  Cancers Vol. 13, No. 12 ( 2021-06-21), p. 3090-
    Details
    In: Cancers, MDPI AG, Vol. 13, No. 12 ( 2021-06-21), p. 3090-
    Abstract: Purpose: To determine the prognostic indicators for hematopoietic stem cell transplantation (HSCT)-associated neurological complications, the clinical characteristics and brain magnetic resonance imaging (MRI) lesions in pediatric HSCT recipients were reviewed. Methods: This retrospective study included 51 patients who had underwent a brain MRI due to newly developed neurological symptoms or infection signs during chemotherapy or HSCT. We reviewed the demographics, received treatments, treatment-related morbidities, laboratory findings and brain MRI findings, which were compared between good and poor neurologic outcome groups. Results: Thirty-seven patients (72.5%) fully recovered from the neurologic deficits and fourteen (27.5%) persisted or aggravated. The children with an underlying malignant disease had significantly poorer neurological outcomes (p = 0.015). The neurologic complications associated with infection were more frequent in the poor outcome group (p = 0.038). In the neuroimaging findings, the extent of the white matter lesions was significantly higher in the poor outcome group, as was that of abnormal enhancement, ventriculomegaly, cortical change, deep gray matter abnormalities and cerebellar abnormalities. Conclusion: Most children with neurologic complications and neuroimaging abnormalities during HSCT had recovered. However, children with neurologic complications associated with infectious causes, malignant disease or severe brain MRI abnormalities should be more carefully monitored during HSCT.
    Type of Medium: Online Resource
    ISSN: 2072-6694
    URL: Article
    DOI: 10.3390/cancers13123090
    Language: English
    Publisher: MDPI AG
    Publication Date: 2021
    detail.hit.zdb_id: 2527080-1
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  • 4
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    New Eudesmane-Type Sesquiterpene Glycosides from the Leaves of Aster koraiensis
    MDPI AG ; 2020
    In:  Plants Vol. 9, No. 12 ( 2020-12-21), p. 1811-
    Details
    In: Plants, MDPI AG, Vol. 9, No. 12 ( 2020-12-21), p. 1811-
    Abstract: Four new eudesmane-type sesquiterpenoids, (1R,5S,6R,7S,9S,10S)-1,6,9-trihydroxy-eudesm-3-ene-1,6-di-O-β-d-glucopyranoside (1), (1R,5S,6S,7R,9S,10S)-1,6,9,11-tetrahydroxy-eudesm-3-ene-1,6-di-O-β-d-glucopyranoside (3), (1R,5S,6R,7S,9S,10R)-9-O-(Z-p-coumaroyl)-1,6,9-trihydroxy-eudesm-3-ene-6-O-β-d-glucopyranoside (6), and (1R,5S,6R,7S,9S,10R)-9-O-(E-feruloyl)-1,6,9-trihydroxy-eudesm-3-ene-6-O-β-d-glucopyranoside (7), were isolated from a 95% EtOH extract of the leaves of Aster koraiensis by repeated chromatography. Moreover, three sesquiterpenoids (2, 4, and 5) and two caffeoylquinic acids (8 and 9) having previously known chemical structures were isolated during the isolation procedure. The four new compounds (1, 3, 6, and 7) were elucidated by spectroscopic data (1D- and 2D-NMR, MS, and ECD) interpretation and hydrolysis. Moreover, the absolute configurations of 2, 4, and 5 were determined for the first time in this study. The compounds isolated were tested for their viability on nitric oxide (NO) and prostaglandin E2 (PGE2) production on LPS-stimulated RAW 264.7 cells. Among them, only 7 presented weak inhibitory effects on both NO and PGE2 production.
    Type of Medium: Online Resource
    ISSN: 2223-7747
    URL: Article
    DOI: 10.3390/plants9121811
    Language: English
    Publisher: MDPI AG
    Publication Date: 2020
    detail.hit.zdb_id: 2704341-1
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  • 5
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    Sequence Design Technique for Accurate Timing and Cell ID Estimation in Underwater Acoustic Cellular Systems with a High Doppler
    MDPI AG ; 2021
    In:  Electronics Vol. 10, No. 19 ( 2021-10-02), p. 2413-
    Details
    In: Electronics, MDPI AG, Vol. 10, No. 19 ( 2021-10-02), p. 2413-
    Abstract: In underwater acoustic cellular (UWAC) systems, underwater equipment or sensor nodes (UE/SN) should perform downlink synchronisation and a cell search during the initial access stage using the preambles received from adjacent underwater base stations (UWBSs). The UE/SN needs to estimate accurate timing and cell ID (CID) using the received preambles, and synchronise with a serving UWBS, even in high-Doppler environments. In this paper, a sequence design technique for joint estimation of accurate timing and CID in UWAC systems with a high Doppler is proposed to decrease the receiver complexity and processing time. A generalised Zadoff–Chu sequence is proposed for the preamble design. This sequence is decomposed into multiple short sub-sequences to reduce the effect of Doppler shift on the timing and CID estimation. The performance loss caused by the short sequence length is compensated by combining the sub-sequences using the repetition property of the ZC sequence. The properties (autocorrelation and cross-correlation) of the proposed sequence are derived analytically in the presence of Doppler shift and compared with the simulation results. The simulation results reveal that the proposed technique performs better than existing techniques in both additive white Gaussian noise and multipath channels with a high-Doppler. It is concluded that the proposed technique is suitable for accurate timing estimation and CID detection in UWAC systems with a high Doppler.
    Type of Medium: Online Resource
    ISSN: 2079-9292
    URL: Article
    DOI: 10.3390/electronics10192413
    Language: English
    Publisher: MDPI AG
    Publication Date: 2021
    detail.hit.zdb_id: 2662127-7
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  • 6
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    Clinical Features of Intra-Abdominal Abscess and Intestinal Free-Wall Perforation in Korean Patients with Crohn’s Disease: Results from the CONNECT Study
    MDPI AG ; 2020
    In:  Journal of Clinical Medicine Vol. 10, No. 1 ( 2020-12-31), p. 116-
    Details
    In: Journal of Clinical Medicine, MDPI AG, Vol. 10, No. 1 ( 2020-12-31), p. 116-
    Abstract: Background: In Crohn’s disease (CD), intra-abdominal abscess (IA) and intestinal free-wall perforation (IP) have a common mechanism of transmural inflammation; however, their manifestation is different. Objective: This study aimed to investigate differences in the clinical features between IA and IP in Korean patients with Crohn’s disease. Design: A retrospective cohort study. Setting: Thirty university hospitals and two local hospitals in Korea. Patients: Patients who were diagnosed with CD between July 1982 and December 2008 were enrolled. Main Outcome Measures: Clinical characteristics of IA and IP. Results: Among 1286 patients with CD, 147 (11.4%) had IA and 83 (6.5%) had IP. IA patients were younger than those of IP (24.2 ± 8.6 vs. 30.4 ± 11.1 years, p = 0.001). Location and behavior were significantly different between IA and IP (p = 0.035 and 0.021). In multivariate analyses, perianal fistula was not associated with increased risk of IA and IP, while intestinal stricture was associated with increased risk of IA (OR: 2.72, p 〈 0.0001) and IP (OR: 2.76, p 〈 0.0001). In subgroup analyses, 55 (36.5%) IA patients were diagnosed at the diagnosis of CD, and 92 (63.5%) during follow-up of CD, while 47 (56.6%) IP patients were diagnosed at the diagnosis of CD, and 36 (43.3%) during follow-up of CD. Conclusions: There are several differences in the clinical features of IA and IP in Korean patients with CD. The development mechanism is considered as identical, but further investigation should be needed for clinical implication.
    Type of Medium: Online Resource
    ISSN: 2077-0383
    URL: Article
    DOI: 10.3390/jcm10010116
    Language: English
    Publisher: MDPI AG
    Publication Date: 2020
    detail.hit.zdb_id: 2662592-1
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  • 7
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    Over-Expression of Dehydroascorbate Reductase Improves Salt Tolerance, Environmental Adaptability and Productivity in Oryza sativa
    MDPI AG ; 2022
    In:  Antioxidants Vol. 11, No. 6 ( 2022-05-28), p. 1077-
    Details
    In: Antioxidants, MDPI AG, Vol. 11, No. 6 ( 2022-05-28), p. 1077-
    Abstract: Abiotic stress induces reactive oxygen species (ROS) generation in plants, and high ROS levels can cause partial or severe oxidative damage to cellular components that regulate the redox status. Here, we developed salt-tolerant transgenic rice plants that overexpressed the dehydroascorbate reductase gene (OsDHAR1) under the control of a stress-inducible sweet potato promoter (SWPA2). OsDHAR1-expressing transgenic plants exhibited improved environmental adaptability compared to wild-type plants, owing to enhanced ascorbate levels, redox homeostasis, photosynthetic ability, and membrane stability through cross-activation of ascorbate-glutathione cycle enzymes under paddy-field conditions, which enhanced various agronomic traits, including root development, panicle number, spikelet number per panicle, and total grain yield. dhar2-knockdown plants were susceptible to salt stress, and owing to poor seed maturation, exhibited reduced biomass (root growth) and grain yield under paddy field conditions. Microarray revealed that transgenic plants highly expressed genes associated with cell growth, plant growth, leaf senescence, root development, ROS and heavy metal detoxification systems, lipid metabolism, isoflavone and ascorbate recycling, and photosynthesis. We identified the genetic source of functional genomics-based molecular breeding in crop plants and provided new insights into the physiological processes underlying environmental adaptability, which will enable improvement of stress tolerance and crop species productivity in response to climate change.
    Type of Medium: Online Resource
    ISSN: 2076-3921
    URL: Article
    DOI: 10.3390/antiox11061077
    Language: English
    Publisher: MDPI AG
    Publication Date: 2022
    detail.hit.zdb_id: 2704216-9
    SSG: 15,3
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  • 8
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    Nanoparticles in 472 Human Cerebrospinal Fluid: Changes in Extracellular Vesicle Concentration and miR-21 Expression as a Biomarker for Leptomeningeal Metastasis
    MDPI AG ; 2020
    In:  Cancers Vol. 12, No. 10 ( 2020-09-24), p. 2745-
    Details
    In: Cancers, MDPI AG, Vol. 12, No. 10 ( 2020-09-24), p. 2745-
    Abstract: Leptomeningeal metastasis (LM) has a poor prognosis and is difficult to diagnose and predict the response of treatment. In this study, we suggested that the monitoring of changes in the concentration of extracellular vesicles in cerebrospinal fluid could help diagnose or predict outcomes for LM. We measured nanoparticles in 472 human cerebrospinal fluid (CSF) from patients including LM with both Dynamic Light Scattering (DLS) and Nanoparticle Tracking Analysis (NTA) after two-step centrifugations. NTA revealed that the concentration of CSF nanoparticles was significantly increased in LM compared to other groups (2.80 × 108 /mL vs. 1.49 × 108 /mL, p 〈 0.01). Changes in NTA-measured nanoparticles concentration after intra-CSF chemotherapy were further examined in 33 non-small cell lung cancer patients with LM. Overall survival was longer for patients with increased EV than the others (442 vs. 165 days, p 〈 0.001). Markers of extracellular vesicles (CD9/CD63/CD81) significantly decreased in the EV-decreased group. MicroRNA-21 expression decreased in this favorable prognostic group, whereas it increased in the EV-decreased group. In conclusion, the elevated concentration of extracellular vesicles in cerebrospinal fluid in patients with LM may be a predictive marker for survival duration. Moreover, EV changes combined with microRNA-21 might be a biomarker for monitoring the efficacy of intracranial chemotherapy of LM in non-small cell lung cancer patients.
    Type of Medium: Online Resource
    ISSN: 2072-6694
    URL: Article
    DOI: 10.3390/cancers12102745
    Language: English
    Publisher: MDPI AG
    Publication Date: 2020
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  • 9
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    General versus Brachial Plexus Block Anesthesia in Pain Management after Internal Fixation in Patients with Distal Radius Fracture: A Randomized Controlled Trial
    MDPI AG ; 2022
    In:  International Journal of Environmental Research and Public Health Vol. 19, No. 15 ( 2022-07-27), p. 9155-
    Details
    In: International Journal of Environmental Research and Public Health, MDPI AG, Vol. 19, No. 15 ( 2022-07-27), p. 9155-
    Abstract: Distal radius fractures (DRFs) are very common injuries associated with aging, and the number of fractures is increasing with the increase in the elderly population. General anesthesia or brachial plexus block (BPB) is required for fracture fixation, and acute postoperative pain control is necessary after operation. Early pain control can improve patient satisfaction and functional outcomes. In this study, we report the clinical differences in postoperative pain, according to the method of anesthesia (general anesthesia versus brachial plexus block). Volar plating was used to treat 72 patients older than 60 years who had comminuted DRF. Patients were randomized to either group A (36 patients), who underwent general anesthesia, or group B (36 patients), who underwent BPB. We compared these two groups prospectively for acute postoperative pain using a visual analog scale (VAS) at 2, 4, 6, 12, and 24 h after surgery. The VAS scores of each group were: 6.8 ± 2.5 in general anesthesia and 0.5 ± 2.3 in BPB at 2 h, postoperatively; 6.5 ± 2.4 in general anesthesia and 0.5 ± 2.4 in BPB anesthesia at 4 h, postoperatively; 5.2 ± 2.4 in general anesthesia and 1.5 ± 2.4 in BPB anesthesia at 6 h, postoperatively; 4.5 ± 2.5 in general anesthesia and 3.4 ± 2.7 in BPB anesthesia at 12 h, postoperatively; and 3.5 ± 2.5 in general anesthesia and 3.2 ± 2.7 in BPB anesthesia at 24 h, postoperatively. DRF patients with BPB anesthesia showed a lower VAS score than those subjected to general anesthesia in early postoperative period. As a result, the effect of BPB anesthesia on acute pain management after surgery was excellent, which resulted in a lower pain score compared with general anesthesia in DRF patients undergoing volar plating.
    Type of Medium: Online Resource
    ISSN: 1660-4601
    URL: Article
    DOI: 10.3390/ijerph19159155
    Language: English
    Publisher: MDPI AG
    Publication Date: 2022
    detail.hit.zdb_id: 2175195-X
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  • 10
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    Nitrogen Deficiency-Dependent Abiotic Stress Enhances Carotenoid Production in Indigenous Green Microalga Scenedesmus rubescens KNUA042, for Use as a Potential Resource of High Value Products
    MDPI AG ; 2020
    In:  Sustainability Vol. 12, No. 13 ( 2020-07-06), p. 5445-
    Details
    In: Sustainability, MDPI AG, Vol. 12, No. 13 ( 2020-07-06), p. 5445-
    Abstract: The microalgal strain Scenedesmus rubescens KNUA042 was identified in freshwater in Korea and characterized by evaluating its stress responses in an effort to increase lipid and carotenoid production. Under a two-stage cultivation process, the algal strain that generally exhibits optimal growth at a nitrate (source of nitrogen) concentration of 0.25 g L−1 was challenged to different exogenous stimuli—salinity (S), light intensity (L), combined L and S (LS), and nitrogen deficiency (C)—for 14 days. Lipid production and carotenoid concentration increased in a time-dependent manner under these physicochemical conditions during the culture periods. Lipid accumulation was confirmed by thin layer chromatography, BODIPY staining, and fatty acid composition analysis, which showed no differences in the algal cells tested under all four (C, S, L, and LS) conditions. The quality of biodiesel produced from the biomass of the algal cells met the American Society for Testing and Materials and the European standards. Total carotenoid content was increased in the LS-treated algal cells (6.94 mg L−1) compared with that in the C-, S-, and L-treated algal cells 1.75, 4.15, and 1.32 mg L−1, respectively). Accordingly, the concentration of canthaxanthin and astaxanthin was also maximized in the LS-treated algal cells at 1.73 and 1.11 mg g−1, respectively, whereas lutein showed no differences in the cells analyzed. Conversely, chlorophyll a level was similar among the C-, S-, and LS-treated algal cells, except for the L-treated algal cells. Thus, our results suggested that S. rubescens KNUA042 was capable of producing carotenoid molecules, which led to the maximum values of canthaxanthin and astaxanthin concentrations when exposed to the combined LS condition compared with that observed when exposed to the salinity condition alone. This indicates that the algal strain could be used for the production of high-value products as well as biofuel. Furthermore, this article provides the first evidence of carotenoid production in S. rubescens KNUA042.
    Type of Medium: Online Resource
    ISSN: 2071-1050
    URL: Article
    DOI: 10.3390/su12135445
    Language: English
    Publisher: MDPI AG
    Publication Date: 2020
    detail.hit.zdb_id: 2518383-7
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