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Radioactive materials were released into the ocean following the Fukushima Daiichi Nuclear Power Plant accident in 2011. Six years after the accident, the radioactive material concentration was markedly increased in the Okhotsk Intermediate Water (OIW) of the Sea of Okhotsk. This material may have been subjected to southward subsurface dispersal by the North Pacific Intermediate Water (NPIW), which originates from the OIW. The spatiotemporal limitations of available methods have made it challenging to track the dispersal paths of radioactive materials in the North Pacific Subpolar region. Here, we performed a tracer experiment using a three-dimensional numerical model to determine the path of 137Cs from Fukushima to the Sea of Okhotsk via surface subpolar gyre currents and subsurface dispersion by OIW and NPIW. The results showed that the 137Cs concentration in the Sea of Okhotsk increased via the surface current and moved progressively southward via OIW six years after the accident and eastward via OIW and NPIW nine years after the accident, indicating that 137Cs transported by NPIW entered the subtropical region. Based on experiments, this temporal change was mainly caused by ocean currents. Thus, subsurface recirculation of radioactive material via the OIW and NPIW should be considered based on the predicted path and travel time of additional materials released from the power plant. [ABSTRACT FROM AUTHOR]

Sea surface temperature (SST) is crucial for understanding the physical characteristics and ecosystems of coastal seas. SST varies near the tidal flat, where exposure and flood recur according to the tidal cycle. However, the variability of SST near the tidal flat is poorly understood owing to difficulties in making in-situ observations. The high resolution of Landsat 8 enabled us to determine the variability of SST near the macro tidal flat. The spatial distribution of the SST extracted from Landsat 8 changed drastically. The seasonal SST range was higher near the tidal flat than in the open sea. The maximum seasonal range of coastal SST exceeded 23 °C, whereas the range in the open ocean was approximately 18 °C. The minimum and maximum horizontal SST gradients near the tidal flat were approximately − 0.76 °C/10 km in December and 1.31 °C/10 km in June, respectively. The heating of sea water by tidal flats in spring and summer, and cooling in the fall and winter might result in a large horizontal SST gradient. The estimated heat flux from the tidal flat to the seawater based on the SST distribution shows seasonal change ranging from − 4.85 to 6.72 W/m2. [ABSTRACT FROM AUTHOR]

Condition monitoring of the stator and rotor problems such as interturn short fault (ITSF) and partial irreversible demagnetization fault (PIDF) in an interior permanent magnet synchronous motor (IPMSM) is essential for achieving high efficiency and reliability. This article presents a torque angle-based inverter-embedded technique for the online detection and identification of ITSF and PIDF. This technique monitors the deviation in the torque angle caused due to ITSF and PIDF at a certain operating point. In steady-state operation, the torque angle decreases from its original value (healthy state) due to ITSF while increases in the case of PIDF. This particular trend of torque angle is used for the detection and identification of ITSF and PIDF. In this article, the torque angle for a healthy IPMSM is first obtained using multivariate regression analysis over the entire operating region and then compared with the torque angle during operation for any potential variation. The proposed method is verified using a finite-element method-based simulation and experiment on a 400-W IPMSM. The results suggest that the proposed method can be a viable candidate for efficient ITSF and PIDF detection and identification in real time. [ABSTRACT FROM AUTHOR]

An inter-turn fault (ITF) is conventionally analyzed by a method that uses negative-sequence components obtained by symmetrical coordinate transformations. However, this method is inefficient because it involves solving complex equations that include many parameters. This paper proposes a simplified d–q equivalent circuit model of a permanent magnet synchronous motor with an ITF. The model is developed by reflecting representative phenomena related to the negative sequence components of the fault in advance of a final model construction, such that the final model does not require the separation of positive and negative sequence components. As a result, the model can rapidly examine the influence of the fault due to the simplicity of the equations, and can help build the detection and tolerance control techniques of the fault. The model is verified by numerical analysis, simulation and experiment. [ABSTRACT FROM AUTHOR]

The development of high-performance concrete using carbon nanotubes (CNTs), which is used in various industries owing to its excellent mechanical properties, has attracted much attention, leading to ongoing research in this area. However, when mixing CNTs into cement paste, there has been limited focus on the dispersibility, and, in most cases, aqueous dispersions of CNTs used in other industrial sectors are used. Because CNTs form the structures of bundles or aggregates owing to their high aspect ratio and van der Waals force between particles, the desired dispersibility cannot be obtained when mixing CNTs in powder form with other materials. Therefore, in this study, we examined the applicability of CNT aqueous dispersions using PC-based plasticizer used in concrete. Aqueous dispersions of CNT using PC-based surfactants are prepared and their properties are compared with those of a PVP-based aqueous dispersion. To analyze the mechanical properties, the compressive strength and flexural strength are measured on the 28th day. Then, the dispersibility and microstructure are analyzed using scanning electron microscopy image analysis, thermogravimetric analysis, and BET (Brunauer–Emmett–Teller) analysis. The analysis results show the enhancement of mechanical properties due to the mixing of the CNT dispersion, and the results confirm the applicability of the proposed CNT aqueous dispersions using PC-based surfactants. [ABSTRACT FROM AUTHOR]

Background: We evaluated the incidence and spectrum of pathogenic and likely pathogenic variants of cancer susceptibility genes in BRCA1/2 mutation-negative Korean patients with a high risk for hereditary breast cancer using a comprehensive multigene panel that included 35 cancer susceptibility genes.Methods: Samples from 120 patients who were negative for BRCA1/2 mutations, but had been diagnosed with breast cancer that was likely hereditary, were prospectively evaluated for the prevalence of high-penetrance and moderate-penetrance germline mutations.Results: Nine patients (7.5%) had at least one pathogenic or likely pathogenic variant. Ten variants were identified in these patients: TP53 in two patients, PALB2 in three patients, BARD1 in two patients, BRIP1 in two patients, and MRE11A in one patient. We also identified 30 types of 139 variants of unknown significance (VUS). High-penetrance germline mutations, including TP53 and PALB2, tended to occur with high frequency in young (< 35 years) breast cancer patients (4/19, 21.1%) than in those diagnosed with breast cancer at ≥35 years of age (1/101, 1.0%; p = 0.003).Conclusions: These combined results demonstrate that multigene panels offer an alternative strategy for identifying veiled pathogenic and likely pathogenic mutations in breast cancer susceptibility genes. [ABSTRACT FROM AUTHOR]

Acquisition of sperm capacitation post-ejaculation into the female reproductive tract is an essential step in the fertilization process. Accordingly, during in vitro fertilization, successful fertilization requires the induction of capacitation in epididymis-retrieved sperm. To date, many candidate substances have been considered as capacitation inducers; however, there are no reports on the efficiency of inducing sperm capacitation among the diverse inducers. Therefore, we attempted to determine the inducer with the best capacitation in inbred mouse sperm by comparing the capacitation performance of a variety of inducers and the percentage of in vitro fertilization-generated zygotes. Calcium chloride, progesterone, bovine serum albumin (BSA), heparin, and lysophosphatidylcholine (Lyso-PC) were used as candidate capacitation inducers. Optimized concentrations of each inducer (2.7 mM calcium, 15 μM progesterone, 0.3% (w/v) BSA, 50 mM heparin, and 100 μM Lyso-PC) were determined based on the ratio of sperm showing an acrosome reaction using Coomassie G-250 blue staining. Calcium at 2.7 mM showed the strongest capacitation induction compared to the other inducers. In vitro fertilization was performed using sperm incubated in each inducer and the ratio of fertilized oocytes was determined. Calcium at 2.7 mM and 0.3% (w/v) BSA showed the highest fertilization rates compared to 15 μM progesterone, 50 mM heparin, and 100 μM Lyso-PC. From these results, we found that 2.7 mM calcium and 0.3% (w/v) BSA were the most effective sperm capacitation inducers of mouse sperm for in vitro fertilization. [ABSTRACT FROM AUTHOR]

Mantle cell lymphoma has features of both indolent and aggressive non-Hodgkin lymphomas. Repeated relapses leading to treatment failure in patients with mantle cell lymphoma might suggest the presence of cancer stem cells. A small cell population with CD45+/CD19 − was previously reported to represent cancer stem cells. We evaluated the clinical relevance of CD45+/CD19 − cells in bone marrow of patients with mantle cell lymphoma (n= 20). A CD45+/CD19 − cell population was observed in newly diagnosed mantle cell lymphoma, and its percentage correlated with tumor cells in bone marrow (r= 0.832,p= 0.001) and score on the simplified mantle cell lymphoma prognostic index (r =0.675,p= 0.016). After treatment, CD45+/CD19 − cells decreased (mean: 0.012%), and CD45+/CD19 − cells (0.276%) were higher at relapse or progression than at diagnosis. In conclusion, a CD45+/CD19 − cell population in bone marrow aspirates correlated with the clinical outcome of patients with mantle cell lymphoma. [ABSTRACT FROM AUTHOR]

The present study sought to determine the correlation between 2-methoxyestradiol (2-MeO-E 2 )-induced cell cycle arrest and 2-MeO-E 2 -induced apoptosis. Exposure of Jurkat T cell clone (JT/Neo) to 2-MeO-E 2 (0.5–1.0 μM) caused G 2 /M arrest, Bak activation, Δψm loss, caspase-9 and -3 activation, PARP cleavage, intracellular ROS accumulation, and apoptotic DNA fragmentation, whereas none of these events except for G 2 /M arrest were induced in Jurkat T cells overexpressing Bcl-2 (JT/Bcl-2). Under these conditions, Cdk1 phosphorylation at Thr-161 and dephosphorylation at Tyr-15, up-regulation of cyclin B1 expression, histone H1 phosphorylation, Cdc25C phosphorylation at Thr-48, Bcl-2 phosphorylation at Thr-56 and Ser-70, Mcl-1 phosphorylation at Ser-159/Thr-163, and Bim phosphorylation were detected irrespective of Bcl-2 overexpression. Concomitant treatment of JT/Neo cells with 2-MeO-E 2 and the G 1 /S blocking agent aphidicolin resulted in G 1 /S arrest and abrogation of all apoptotic events, including Cdk1 activation, phosphorylation of Bcl-2, Mcl-1 and Bim, and ROS accumulation. The 2-MeO-E 2 -induced phosphorylation of Bcl-2 family proteins and mitochondrial apoptotic events were suppressed by a Cdk1 inhibitor, but not by an Aurora A kinase (AURKA), Aurora B kinase (AURKB), JNK, or p38 MAPK inhibitor. Immunofluorescence microscopic analysis revealed that 2-MeO-E 2 -induced mitotic arrest was caused by mitotic spindle network impairment and prometaphase arrest. Whereas 10–20 μM 2-MeO-E 2 reduced the proportion of intracellular polymeric tubulin to monomeric tubulin, 0.5–5.0 μM 2-MeO-E 2 increased it. These results demonstrate that the apoptogenic effect of 2-MeO-E 2 (0.5–1.0 μM) was attributable to mitotic spindle defect-mediated prometaphase arrest, Cdk1 activation, phosphorylation of Bcl-2, Mcl-1, and Bim, and activation of Bak and mitochondria-dependent caspase cascade. [ABSTRACT FROM AUTHOR]

Interturn faults (ITFs) cause significant changes in the electrical and magnetic characteristics of motors. In particular, ITFs can be the cause of serious distortions in the magnetic field of an air gap. Therefore, we develop a system matrix with an ITF for FEM simulation, which considers the nonlinearity of the ITF. Using the analysis of the magnetic characteristics of the detection coil from the FEM results, a circuit that employs the proposed diagnosis algorithm is shown to detect the phase and the location of a fault. [ABSTRACT FROM AUTHOR]

Abstract: We report optimization of a serum- and feeder-free, three-dimensional (3D) niche created with a synthetic polyethylene glycol (PEG)-based extracellular matrix for self-renewal of human embryonic stem cells (hESCs). Three hESC lines (H9, H1 and Novo) were cultured in hydrogels of different mechanical properties, and cellular morphology and activity were compared to culture in feeder-free or feeder-containing two-dimensional (2D) niches. Significant effects of PEG concentration (5, 7.5, 10, 12.5 or 15%) and vinyl sulfone-functionalized PEG multiarm number (3, 4 or 8) on hESC morphology were detected in the H9 line. Cell growth was maximal with an 8 multiarm architecture of any PEG concentration, which yielded the highest expression of stemness-related genes. Alkaline phosphatase activity in cultured H9 cells was similar between the optimized feeder-free 3D and the feeder-containing 2D systems. However, increased expression of the KLF4, CDH1, TERT, SOX2, and UTF1 genes and expression of pluripotency-specific SSEA-4, Oct3/4, Nanog, Tra-1-60 and Tra-1-81 were detected in the 3D-cultured hESC clumps. H1 and Novo cell lines also expanded in the optimized 3D system, which maintain stemness properties. Although different proliferation activities were detected among three lines, the difference was decreased after the 3D culture. These results demonstrate that chemically defined, acellular niches created using PEG-based hydrogels have the potential to support hESC self-renewal. Modulation of 3D properties can create various models for cell transformation and differentiation. [Copyright &y& Elsevier]

Highlights: [•] An apoptogenic ingredient collinin was isolated from the leaves of Zanthoxylum schinifolium. [•] Multidomain pro-apoptotic Bcl-2 proteins Bak and Bax were activated by collinin. [•] Δψ m loss and caspase cascade activation, leading to PARP degradation, was induced by collinin. [•] Collin-induced apoptotic events were abrogated by overexpression of Bcl-2. [•] Either FADD-deficiency or caspase-8-deficiency failed to affect the sensitivity of Jurkat T cells to collinin-induced apoptosis. [ABSTRACT FROM AUTHOR]

Estimation and scheduling of future pavement maintenance and rehabilitation (M&R) works are one of the primary concerns of highway agencies due to the limited allocations in budget and resources. Two approximate methods for estimation of pavement rehabilitation cost are presented and compared in this study based on highway present condition index (HPCI) and rehabilitation history. The former is based on pavement condition, while the latter is based on historical and statistical trends. Database from a pavement management system (PMS) of various highway sections surveyed in Korea were used in this study to establish a relationship between HPCI and pavement service life and to analyse the trends of rehabilitation periods. The two simple methods presented provide useful information and probable range for the various highway agencies to guide them in the preliminary planning, budgeting, estimating and scheduling of their future pavement M&R works. [ABSTRACT FROM PUBLISHER]

To report a case of primary vitreoretinal lymphoma (PVRL) showing recurrence after spontaneous regression, diagnosed with the aid of next-generation sequencing (NGS). Retrospective case report. A 61-year-old immunocompetent Korean woman presented with subretinal lesions suspected of PVRL, which resolved spontaneously in 2 months. After 8 months, the lesion recurred and diagnostic vitrectomy was performed. The cytologic examination of the vitreous was indeterminate as there was only minimal vitreous opacity present at the time of surgery. NGS identified significant mutations including single nucleotide variants in MYD88 L265P, which is a unique hallmark of VRL, in vitreous sample, and the diagnosis of PVRL was made. This case showed PVRL can spontaneously regress almost completely, then recur, so careful ophthalmic and systemic follow-ups are warranted. When cytological confirmation is challenging due to the minimal disease involvement in the vitreous, NGS is effective in confirming the mutation profiles of PVRL. [ABSTRACT FROM AUTHOR]

Abstract: We engineered an acellular biomimetic microenvironment to regulate stem cell fate and applied it to maintain mouse embryonic stem (ES) cell self-renewal. In the 3D environment formed using hydrogel scaffolds in which specific integrin ligation was provided, Stat3 activation by exogenous leukemia inhibitory factor (LIF) no longer acted as a limiting factor for stem cell self-renewal. Instead, simultaneous stimulation of integrins α5β1, αvβ5, α6β1 and α9β1 within the 3D scaffold greatly increased Akt1 and Smad 1/5/8 activation, which resulted in prolonged self-renewal of the ES cells. The ES cells exposed to the combined stimulation of the integrins for 4 wk in LIF-free 3D scaffolds maintained the spherical morphology of cell colonies without losing any activity of pluripotency. In conclusion, cell niche-specific integrin signaling within the 3D environment supported mouse ES cell self-renewal, and the resulting integrin signaling replaced Stat3 with Akt1 and Smad 1/5/8 as critical signals for mouse ES cell self-renewal. [Copyright &y& Elsevier]

Abstract: The present study was performed to provide direct evidence on copy number changes during progression from chronic phase (CP) to blastic phase (BP) in chronic myeloid leukemia (CML) through a longitudinal follow-up study. Matched CP and BP samples in three patients were analyzed using high-resolution array comparative genomic hybridization (aCGH) chips. During blastic transformation, loss of large genomic segments including 6q14.1-q22.31, chromosome 7 and 9p13.2-p21.3 were noted. Furthermore, small-sized copy number changes involving cancer-associated genes were observed. In addition, we identified a novel fusion gene consisted of PAX5 and MLLT3 (AF9). It is likely that blastic transformation of CML is a multi-step process associated accumulation of several genomic events which may largely overlap with those found in acute leukemias. [Copyright &y& Elsevier]

Although many studies have been performed to identify mutations in Korean patients with various autosomal-recessive Mendelian disorders (AR-MDs), little is known about the carrier frequencies of AR-MDs in the Korean population. Twenty common mutations from six AR-MDs, including Wilson disease (WD), non-syndromic hearing loss (NSHL), glycogen storage disease type Ia (GSD Ia), phenylketonuria (PKU), congenital hypothyroidism (CH), and congenital lipoid adrenal hyperplasia (CLAH) were selected to screen for based on previous studies. A total of 3057 Koreans were genotyped by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry followed by confirmation using the Sanger sequencing. We found 201 and 8 carriers with either one or two mutations in different genes, respectively, yielding a total carrier frequency of 1 in 15 (6.7%). Of the six AR-MDs, NSHL has the highest carrier frequency followed by WD, CH, CLAH, GSD Ia, and PKU. As carrier screening tests are becoming prevalent and the number of mutations known and tested is rising, a priori data on the carrier frequencies in different ethnic groups is mandatory to plan a population screening program and to estimate its efficiency. In light of this, the present results can be used as a basis to establish a screening policy for common AR-MRs in the Korean population. [ABSTRACT FROM AUTHOR]

Summary Objective To investigate thyroid-stimulating hormone receptor ( TSHR) and thyroid peroxidase ( TPO) mutations in Korean patients with primary congenital hypothyroidism (CH). Context Congenital hypothyroidism is a common genetic disorder in which the majority of mutations occur in the TSHR and TPO genes. Design We examined the frequencies of TSHR and TPO mutations among Korean patients with primary CH. Furthermore, we explored the relationships between imaging findings and mutation status. Patients A total of 193 paediatric patients with nonsyndromic CH were enrolled in the present study. Measurements Patients with decreased 99mTc uptake were screened for TSHR mutations using Sanger sequencing, and those with increased uptake were screened for TPO mutations. The relationships between scintigraphic and ultrasonographic findings and mutation status were analysed. Results Thirteen (16·5%) of 79 patients with decreased 99mTc uptake were found to harbour TSHR mutations including G132R, G245S, R450H, R519C and F525S. The R450H mutation was present in 13 (72·2%) of 18 disease alleles. Seven (10·3%) of 68 patients with increased 99mTc uptake harboured TPO mutations including R189Q, K439E, G493S, C808LfsX72, A863T, R875Hfs and P883S. The TSHR and TPO mutations were observed only in patients with normal to slightly enlarged thyroid glands. Conclusions This study identified underlying TSHR and TPO mutations in Korean patients with CH and revealed a possible relationship between imaging findings and mutation status. In addition, the low rate of mutation positivity suggests significant genetic heterogeneity of CH in the Korean population. [ABSTRACT FROM AUTHOR]

In the present study, the authors analyzed the tyrosine hydroxylase (TH) expression in peripheral blood (PB) of neuroblastoma (NB) patients and investigated the clinical implications. From April 2005 to October 2008, a total of 683 PB specimens (64 at diagnosis, 244 during chemotherapy, 355 during off-therapy follow-up, and 20 at relapse) acquired from141 patients were investigated. TH expression was measured by quantitative reverse transcriptase-polymerase chain reaction (RTPCR). TH-positive rate at diagnosis (21.4%) was higher than those during chemotherapy (0.8%) or off-therapy follow-up (1.7%). TH expression at diagnosis was associated with high-risk features (ie, advanced stage, older age, unfavorable pathology, and amplified N-myc) and the probability of 3- year relapse-free survival in the TH-positive patients was lower than in the TH-negative patients (45.8% ± 27.8% versus 95.8% ± 5.7%, P < .001). TH expression was positive in only 6 specimens during off-therapy follow-up. However, tumor relapse occurred in only 2 out of 6 TH-positive patients. In addition, TH expression was negative during previous off-therapy follow-up, prior to relapse, in 8 out of 10 relapsed patients. Whereas TH expression in PB at diagnosis was associated with high-risk features and a poorer outcome, TH expression during off-therapy follow-up had very limited value for the prediction of a subsequent relapse. [ABSTRACT FROM AUTHOR]

Adding a potent antioxidant, glutathione (GSH), to a cryoprotective solution consisting of dimethyl sulfoxide and ethylene glycol and/or postthaw culture medium significantly improved the postthaw viability of mouse embryonic stem cells. This effect, which was caused by a decrease in reactive oxygen species, was only induced by exposure of embryonic stem cells during cryopreservation. [ABSTRACT FROM AUTHOR]

Abstract: We present development and use of a 3D synthetic extracellular matrix (ECM) analog with integrin-specific adhesion ligands to characterize the microenvironmental influences in embryonic stem cell (ESC) self-renewal. Transcriptional analysis of 24 integrin subunits followed by confirmation at the translational and functional levels suggested that integrins α5β1, αvβ5, α6β1 and α9β1 play important roles in maintenance of stemness in undifferentiated mouse ESCs. Using the well-defined matrix as a tool to activate integrins α5β1 plus αvβ5, α6β1 and α9β1, individually and in combination, differential integrin activation was demonstrated to exert exquisite control over ESC fate decisions. Simultaneous ligation of these four integrin heterodimers promoted self-renewal, as evidence by prolonged SSEA-1, Oct4 and Nanog expression, and induced Akt1 kinase signaling along with translational regulation of other stemness-related genes. The biofunctional network we have designed based on this knowledge may be useful as a defined niche for regulating ESC pluripotency through selective cell–matrix interactions, and the method we present may be more generally useful for probing matrix interactions in stem cell self-renewal and differentiation. [Copyright &y& Elsevier]

The article reports on cases of in-frame deletion mutation in juxtamembrane domain (JMD) of the FLT3 (Fms-like tyrosine kinase 3). It states that cases include patients with easy bruisability and petechiae and hyperdiploid B cell-acute lymphoblastic leukemia and bone marrow showed increase count in myeloblast cells. It mentions that in one patient the deletion mutation was missing upon relapse, suggesting that mutation may not be driver mutation having different genetic backgrounds.

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disease characterized by anhidrosis, insensitivity to noxious stimuli, and mental retardation. Mutations in the NTRK1 gene are associated with the pathogenesis of CIPA. In this study, we performed a clinical and genetic analysis on the NTRK1 gene in four Korean patients with CIPA. All patients had typical clinical manifestations of CIPA, including anhidrosis, recurrent fever, absent pain perception, and developmental delay. Sequencing analysis revealed one predominant mutation, c.851-33T>A, in four affected alleles and three novel mutations, including c.287+2dupT, c.2155G>A (p.Glu719Lys), and c.1218delC (p.Pro407ArgfsX), in each affected allele. For one patient, who was heterozygous for c.851-33T>A, another mutation could not be identified, suggesting that a possible hidden intronic or large genomic mutation may have been present. This study extends the spectrum of mutations in the NTRK1 gene and confirms that Korean patients with CIPA have the same genetic background as other ethnicities. Muscle Nerve, 2009 [ABSTRACT FROM AUTHOR]

Abstract: The influence of recycled fine aggregates, which had been reclaimed from field-demolished concretes, on the resistance of mortar specimens to magnesium sulfate attack was investigated. Mortar specimens were prepared with recycled fine aggregates at different replacement levels (0%, 25%, 50%, 75% and 100% of natural fine aggregate by mass). The mortar specimens were exposed to 4.24% magnesium sulfate solution for about 1 year at ambient temperature, and regularly monitored for visual appearance, compressive strength loss and expansion. Additionally, in order to identify products of magnesium sulfate attack, mortar samples incorporating 0%, 25% and 100% replacement levels of the recycled fine aggregates were examined by X-ray diffraction (XRD) technique. Experimental results confirmed that the use of recycled fine aggregates up to a maximum 50% replacement level is effective under severe magnesium sulfate environment, irrespective of type of recycled fine aggregates. However, the worse performance was observed in mortar specimens incorporating 100% replacement level. It was found that the water absorption of recycled fine aggregates affected deterioration of mortar specimens, especially at a higher replacement level. XRD results indicated that the main cause of deterioration of the mortar specimens was primarily due to the formation of gypsum and thaumasite by magnesium sulfate attack. In addition, it appeared that the conversion of C–S–H into M–S–H by the attack probably influenced mechanical deterioration of mortar specimens with recycled fine aggregates. [Copyright &y& Elsevier]

Abstract: A 1q triplication is a rare karyotypic event in hematologic malignancies, with 26 cases of 1q triplication reported in the literature. Although 1q duplication or triplication is present with a high incidence in Burkitt lymphoma and Fanconi anemia, there have been no detailed reports of an association between non-Burkitt type lymphomas and 1q triplication. Presented here is the case of a 69-year-old man with follicular lymphoma (FL) and 1q triplication, with a review of the pertinent literature. The patient was diagnosed with FL with bone marrow involvement; his bone marrow chromosome study revealed 50,XY,trp(1)(q21q32),+3,+add(3)(q21),+7,+9,add(13)(p11.2)[11]/51∼52,idem,+19,+22[8]/46,XY[3]. Review of the Mitelman Database of Chromosome Aberrations in Cancer revealed 7 previous cases of non-Burkitt type lymphoma (including FL) with 1q triplication. On the basis of these eight cases, we conclude that 1q triplication represents a rare secondary genetic event with prognostic significance in patients with FL or other non-Burkitt types of lymphoma. Further studies are needed to investigate these rare 1q triplication in hematologic malignancies. [Copyright &y& Elsevier]

Abstract: We report on a 20-year-old man with acute myeloid leukemia (AML) showing a distinct novel CBFB/MYH11 variant fusion transcript. Initial results of bone marrow, chromosome, and flow cytometric analyses were not in accordance with the diagnosis of acute myelomonocytic leukemia with eosinophilia (AML-M4Eo) or AML with a CBFB/MYH11 rearrangement. However, results from 2 commercially available multiplex reverse transcriptase-polymerase chain reaction (RT-PCR) tests repeatedly showed an unusual PCR product from his bone marrow specimen. Not only does this case show a partial insertion of exon 6 of the CBFB (ENSG00000067955) gene, but it also involves novel breakpoints within both exon 6 of the CBFB gene and exon 28 (previously exon 7) of the MYH11 (ENSG00000133392) gene, which is regarded as a previously non-reported, new type (K-type) of CBFB/MYH11 fusion transcript. In addition, our study result was in agreement with the recent report of Schnittger et al. that rare fusion transcripts of CBFB/MYH11 are correlated with an atypical cytomorphology and other aberrant characteristics. Therefore, multiplex RT-PCR and sequence analysis of these atypical products should be performed to diagnose atypical AML with CBFB/MYH11 rearrangement, to predict prognosis of these patients as well as to elucidate the molecular mechanism. [Copyright &y& Elsevier]

Abstract: A 32-year-old pregnant woman in the 13th gestational week was brought to Severance Hospital with gum bleeding and easy bruising. Initial laboratory results revealed anemia and thrombocytopenia. In a peripheral blood smear, 81% of leukocytes were large, abnormal promyelocytes. Bone marrow aspiration showed a hypercellular marrow with packed leukemic promyelocytes, and chromosome study revealed a karyotype of 46,XX,t(15;17)(q22;q21)[10]/46,XX[10]. In addition, variant fusion transcripts of PML/RARA were detected in the marrow specimen. The patient was diagnosed with acute promyelocytic leukemia (APL) and was treated with all-trans retinoic acid (ATRA) and idarubicin. One month from the patient''s initial diagnosis a follow-up bone marrow examination was performed, revealing complete remission (CR). We know of no previous reports of APL during pregnancy associated with variant PML/RARA fusion transcripts. Here, we describe a novel case of APL in a pregnant woman with a t(15;17) translocation and variant fusion transcripts. [Copyright &y& Elsevier]

Objective: To evaluate whether autologous embryonic stem cells can be established without generating clone embryos. Design: Prospective model study. Setting: Gamete and stem cell biotechnology laboratory in Seoul National University, Seoul, Korea. Animal(s): F1 hybrid B6D2F1 mice. Intervention(s): Preantral follicles were cultured, and oocytes matured in the follicles were parthenogenetically activated. Main Outcome Measure(s): Preimplantation development and stem cell characterization. Result(s): More intrafollicular oocytes that were retrieved from secondary follicles matured and developed into blastocysts after parthenogenesis than those that were retrieved from primary follicles. Of those 35 blastocysts derived from 193 parthenotes, one line of colony-forming cells was established from the culturing of early secondary follicles. The established cells were positive for embryonic stem cell-specific markers and had normal diploid karyotype and telomerase activity. They differentiated into embryoid bodies in vitro and teratomas in vivo. Inducible differentiation of the established cells into neuronal lineage cells also was possible. Conclusion(s): Autologous embryonic stem cells can be established by preantral follicle culture and oocyte parthenogenesis. A combined technique of follicle culture and oocyte parthenogenesis that does not use developmentally competent oocytes has the potential to replace somatic cell nuclear transfer for autologous cell therapy. [Copyright &y& Elsevier]

Abstract: We report a rare case of acute myeloid leukemia (AML) with t(6;11)(q15;q23) in a 50-year-old female showing a poor prognosis. Bone marrow biopsy revealed markedly hypercellular marrow with infiltrates of myeloblasts, consistent with AML-M2 morphology. The karyotype of this patient was 46,XX,t(6;11)(q15;q23) in all analyzed cells, and the results of fluorescence in situ hybridization (FISH) and multi-color FISH analysis confirmed this unique MLL rearrangement as a sole abnormality. To our knowledge, t(6;11)(q13∼q15;q23) is the most rare type of MLL rearrangement involving the long arm of chromosome 6. Only two cases with t(6;11)(q13;q23) and three cases with t(6;11)(q15;q23) have been reported, but detailed clinical or laboratory data were not available. From this report, it is apparent that in a cytogenetic laboratory, the accurate detection of a rare type of MLL rearrangement is very important in the differential diagnosis, prompt treatment, and prediction of prognosis of leukemias. [Copyright &y& Elsevier]

Abstract: Although cerebral cavernous malformations (CCMs) are not uncommon, the concurrent finding of cavernous malformations (CMs) both in the brain and spinal cord is quite rare. Furthermore, multiple spinal cord CMs are extremely rare with only a few cases being reported thus far. Recently, we encountered a 33-year-old Korean male with both CCM and multiple spinal intramedullary CMs. The patient complained of seizure and right chest paresthesia. The lesions were located throughout the neuraxis including the cerebral hemisphere, brain stem, and cervical and thoracic spinal cords. Molecular analysis of the KRIT1 (CCM1), CCM2, and PDCD10 (CCM3) genes identified a heterozygous nonsense mutation (c.103C>T; Arg35X) in the PDCD10 gene, which was reported previously in a CCM family. The patient denied a family history, however, his daughter had an identical mutation, but was asymptomatic. Three months later, after identifying the mutation in the father and the daughter, the daughter presented with seizure. To the best of our knowledge, this is the first report of an association between a mutation in the PDCD10 gene and spinal CMs. [Copyright &y& Elsevier]

Abstract: Adoptive therapy with antigen-specific T cells is a promising approach for the treatment of infectious diseases and cancer. However, cloning of antigen-specific T cells by the traditional approach of limiting dilution is a time-consuming, laborious, and inefficient process. Here, we describe a novel flow cytometric strategy for rapid isolation of human tumor antigen-specific T-cell clones by using T-cell receptor (TCR) Vβ antibodies in combination with carboxyfluorescein succinimidyl ester (CFSE)-based proliferation assay. The CFSE dilution following antigen stimulation identified proliferating antigen-specific T cells, and the TCRVβ antibodies allowed distinguishing T cells at the clonal level from a heterogeneous T-cell population. This method of TCRVβ/CFSE dilution was used for the isolation of four different human lymphoma and melanoma-specific CD4+ and CD8+ T-cell clones reactive against defined and undefined tumor antigens. Isolated tumor-specific T-cell clones could be expanded to large numbers ex vivo while maintaining phenotype, function, and tumor antigen specificity. The method was simple, efficient, and reproducible, and may have potential application for the development of adoptive immunotherapeutic strategies. [Copyright &y& Elsevier]

Abstract: This paper presents data on engineering properties such as compressive strength, visual change and expansion of mortar specimens incorporating limestone filler subjected to severe sulfate attack at ambient temperature. Specimens with four replacement levels of limestone filler (0, 10, 20 and 30% of cement by mass) were immersed in sodium and magnesium sulfate solutions with 33,800 ppm of SO4 2− concentration. In order to identify the products formed by sulfate attack, microstructural analyses such as XRD and SEM were also performed on the paste samples with similar replacement levels of limestone filler. The test results demonstrated that mortar and paste samples incorporating higher replacement levels of limestone filler were more susceptible to sulfate attack irrespective of types of attacking sources. However, the deterioration modes were significantly dependent on the types of sulfate solutions. Additionally, although the samples were exposed to sulfate solutions at 20±1 °C, the deterioration was strongly associated with thaumasite formation in both sulfate solutions. The deterioration mechanism and resistance to sulfate attack of cement matrix incorporating limestone filler at ambient temperature is discussed in the light of the test results obtained. [Copyright &y& Elsevier]

This paper describes the resistance of mortar specimens with two different recycled fine aggregates when they were exposed to sodium and magnesium sulfate solutions up to 15 months. The important difference between the recycled fine aggregates used in this study was the water absorption. Control mortar specimen made with only river sand was also tested to compare the degree of deterioration by sulfate attack. The tests include visual examination, compressive strength ratio, expansion and mass loss, as well as microstructural observations. The experimental data indicated that the use of 50% replacement level of recycled fine aggregates led to the increased or similar resistance to both sodium and magnesium sulfate attacks. At the 100% replacement level, however, mortar specimens containing recycled fine aggregate with higher water absorption suffered serious damage in mechanical properties, and the deterioration degree is likely to be more pronounced with further exposure. This work suggests that the absorption characteristics and replacement levels of recycled aggregates have a decisive influence on the sulfate resistance of mortar specimens. [ABSTRACT FROM AUTHOR]

Objective: To determine the effects of gonadotropin injection on the energy generation of mature oocytes. Design: Randomized prospective study. Setting: Gamete and stem cell biotechnology laboratory at Seoul National University in Korea. Animal(s): Twelve- to 15-week-old golden hamsters (Mesocricetus auratus). Intervention(s): Injections of pregnant mare serum gonadotropin (PMSG; 5 or 15 IU), of hCG (5 or 15 IU), or of PMSG and hCG (15 IU of each; PMSG + hCG group) were administered to female hamsters. Main Outcome Measure(s): Adenosine triphosphate (ATP) synthesis, mitochondrial population number and activity, and pyruvate uptake were measured. Result(s): Significant (P<.05) differences were found in the ATP levels; compared with the control (no injection), a dramatic increase was detected after injections of 15 IU of hCG or of 15 IU of PMSG and 15 IU of hCG. In the same treatments, the mitochondrial population (mitochondrial DNA copy number) significantly increased, whereas mitochondrial activity measured by the ratio of activated to less-activated mitochondria did not change. A significant increase in pyruvate uptake was detected after the injections of 15 IU of PMSG and 15 IU of hCG. Conclusion(s): The change in ATP synthesis activity was a major cause for the adverse effect of gonadotropins on oocyte development in the hamster. The injections of 15 IU of hCG, or of 15 IU of PMSG and 15 IU of hCG, dramatically increased the ATP level, the mitochondrial population number, and pyruvate uptake. [Copyright &y& Elsevier]

Objective: To evaluate whether serum replacement with growth factor–free synthetic substances contributed to the effective establishment of embryonic stem (ES) cells. Design: Randomized, prospective model study. Setting: Gamete and stem cell biotechnology laboratory at Seoul National University in Korea. Animal(s): F1 (C57BL6 × DBA2) mice. Intervention(s): Blastocysts of different origins were cultured in serum-replaced media. Main Outcome Measure(s): Embryonic stem cell establishment. Result(s): Eight batches of ES cells were established from colony-forming inner cell mass cells after the replacement of fetal bovine serum (FBS) with synthetic knockout serum replacement (KSR) in mkDMEM. The established cells were positive for ES cell markers and formed both embryoid bodies in vitro and teratomas in vivo, but the established cell batches and control (transformed) ES cells responded differently to the culture media. Higher levels of cell viability were detected after the replacement with the 75:25 FBS–KSR mixture than with any other mixtures, and a gradual decrease in viability was detected as the KSR volume ratio was increased. The 75:25 FBS–KSR mixture-containing medium supported ES cell establishment of outbred ICR, F1, and F2 of C57BL6/DBA2; F1 parthenogenetic and ES cell–complemented tetraploid blastocysts; and single ES-cell cultures. Conclusion(s): A serum-replaced medium could be used for effective ES-cell establishment of various origins. [Copyright &y& Elsevier]

Abstract: A screen-printing process is used to prepare thick Zr-incorporated LiCoO2 (Zr–LiCoO2) films up to 20μm. The sol slurry used for the screen-printing consists of a Zr–LiCoO2 sol and the Zr–LiCoO2 powder. The microstructure and morphology of the films are investigated. After a thermal treatment, crack-free crystalline films are obtained. The electrochemical properties of the thick films are investigated in a half-cell with a Li-metal anode and in a full-cell with a Fe/Si multilayer film anode. Excellent cycleability is observed. Incorporation of 5wt.% Ag powder into the sol slurry for screen-printing improves the electrochemical performance such as the charge–discharge coulombic efficiency. This is attributed to enhanced electrical conductance. It is found, however, that the degree of utilization of the electrode material decreases with increasing film thickness. [Copyright &y& Elsevier]

The different performances of silica fume blended mortars placed in various sulphate-bearing exposure conditions were investigated. Experimental study was carried out on mortars immersed in 5% sodium sulphate, 5% magnesium sulphate, and mixed 5% sodium sulphate and 5% magnesium sulphate solutions for 270 d of sulphate exposure. Another variable was the replacement ratio of cement with silica fume (0, 5, 10, and 15% of the cement by weight). The results showed conclusively that silica fume should be given serious consideration for use in sulphate environments. In other words, in a sodium sulphate solution, silica fume showed a beneficial effect on mitigating compressive strength reduction and length change of mortars. However, the strength deterioration factor of the mortar specimen with some silica fume content (especially 15% of the cement by weight) was greater than that of the mortar specimen without silica fume under Mg2+ ion oriented attack. These different sulphate deterioration mechanisms are presented in the study. Microstructural investigations such as X-ray diffraction (XRD), scanning electron microscopy (SEM), energy-dispersive X-ray analysis (EDXA), and mercury intrusion porosimetry (MIP) were also used to support the explanation for these mechanisms. [ABSTRACT FROM AUTHOR]

Summary. A 20-year-old woman with high-risk acute myelogenous leukaemia was transplanted with granulocyte colony stimulating factor (G-CSF)-mobilized peripheral blood CD34+ haematopoietic stem cells and bone-marrow-derived mesenchymal stem cells (MSC) from her human leucocyte antigen haplotype-mismatched father after myeloablative conditioning therapy. The patient engrafted rapidly and had no acute or chronic graft-versus-host disease. Since transplantation, the patient has shown an enduring trilineage haematological complete response without any evidence of leukaemia relapse at 31 months. We suggest that MSC can be used effectively for genetically haploidentical haematopoietic stem cell transplantation for acute leukaemia. [ABSTRACT FROM AUTHOR]

HLA-DM has been known to be largely absent from the cell surface of antigen-presenting cells, accumulating instead in the intracellular compartment. In this study, we demonstrated that a population of HLA-DM-positive (HLA-DM+) dendritic cells (DCs) can be identified in an in vitro culture of CD34+ bone marrow haematopoietic stem cells. CD34+ bone marrow cells of healthy donors were used to generate DCs with the recombinant human cytokines granulocyte–macrophage colony-stimulating factor (GM-CSF), tumour necrosis factor α (TNF-α) and stem cell factor (SCF), both with and without interleukin 4 (IL-4). Flow cytometric analysis demonstrated that HLA-DM+ cells comprised 2·5 ± 0·9% and 1·8 ± 0·4% of the CD34+ cell-derived progeny in the presence of GM-CSF, TNF-α and SCF after 7 d and 14 d of culture respectively. The number of HLA-DM molecules expressed per HLA-DM+ cell on d 7 was significantly higher than that on d 14 (1410 ± 47 versus 370 ± 25, P < 0·05). The addition of IL-4 to the cytokines from the commencement of culture increased the proportion of HLA-DM+ cells and increased the number of HLA-DM molecules per HLA-DM+ cell significantly (P < 0·05). Although most of the HLA-DM+ cells expressed CD1a, CD80 or CD86 antigen, only a small proportion of CD1a+, CD80+ or CD86+ cells expressed HLA-DM. About half the HLA-DM+ cells expressed CD83. The addition of IL-4 resulted in a decrease in the expression of CD83 on the HLA-DM+ cells on d 7. Microscopic evaluations of sorted HLA-DM+ cells revealed the characteristic morphological features of DCs. Primary mixed lymphocyte cultures demonstrated that the HLA-DM+ cells elicited a vigorous proliferation of allogeneic T cells. The level of antigen-specific T-cell activation induced by antigen-pulsed, chloroquine-treated HLA-DM+ cells was substantially higher than that induced by HLA-DM- cells (P < 0·05). These results show that HLA-DM can be used as a useful DC lineage-specific marker, as well as a tool for the characterization of DCs and human immunotherapy. [ABSTRACT FROM AUTHOR]

Introduction: Acute myeloid leukemia (AML) is a complex hematologic malignancy characterized by uncontrolled proliferation of myeloid precursor cells within bone marrow. Despite advances in understanding of its molecular underpinnings, AML remains a therapeutic challenge due to its high relapse rate and clonal evolution. Methods: In this retrospective study, we analyzed data from 24 AML patients diagnosed at a single institution between January 2017 and August 2023. Comprehensive genetic analyses, including chromosomal karyotyping, next-generation sequencing, and gene fusion assays, were performed on bone marrow samples obtained at initial diagnosis and relapse. Clinical data, treatment regimens, and patient outcomes were also documented. Results: Mutations in core genes of FLT3, NPM1, DNMT3A, and IDH2 were frequently discovered in diagnostic sample and remained in relapse sample. FLT3-ITD, TP53, KIT, RUNX1, and WT1 mutation were acquired at relapse in one patient each. Gene fusion assays revealed stable patterns, while chromosomal karyotype analyses indicated a greater diversity of mutations in relapsed patients. Clonal evolution patterns varied, with some cases showing linear or branching evolution and others exhibiting no substantial change in core mutations between diagnosis and relapse. Conclusions: Our study integrates karyotype, gene rearrangements, and gene mutation results to provide a further understanding of AML heterogeneity and evolution. We demonstrate the clinical relevance of specific mutations and clonal evolution patterns, emphasizing the need for personalized therapies and measurable residual disease monitoring in AML management. By bridging the gap between genetics and clinical outcome, we move closer to tailored AML therapies and improved patient prognoses. [ABSTRACT FROM AUTHOR]

Brentuximab vedotin (BV) monotherapy (BV-M) and combination (BV-C) therapies are safe and effective for classical Hodgkin lymphoma (cHL) and CD30-expressing peripheral T-cell lymphomas (PTCLs). Although the sample sizes have been small (12–29 patients), in clinical studies, response rates of 53–88% have been reported for BV retreatment in patients with an initial BV response. We evaluated the real-world characteristics and treatment patterns of cHL/PTCL patients who received BV and were retreated in the United States. Symphony Health Patient Claims (11/2013–1/2022) were retrospectively analyzed to identify cHL/PTCL patients treated with BV and retreated with BV-M, BV-C, or non-BV therapy. Patient characteristics were described by retreatment, and predictors of BV-M retreatment were identified. Among the cHL and PTCL patients treated with BV (n = 6442 and 2472, respectively), 13% and 12%, respectively, were retreated with BV; the median times from initial BV to BV-M retreatment were 5 and 7 months, respectively; and the numbers of BV-M retreatment doses were 4 and 5, respectively. Among cHL patients, the predictors of BV-M retreatment were age (18–39 vs. ≥60 years), sex (women vs. men), and previous stem cell transplantation (yes vs. no). Among PTCL patients, the only predictor of BV-M retreatment was systemic anaplastic large-cell lymphoma subtype (yes vs. no). Real-world data support clinical study results suggesting earlier BV treatment be considered, as BV retreatment may be an option. [ABSTRACT FROM AUTHOR]

The roles of individual bacteria and their relationship in the development of colorectal cancer (CRC) remain unclear. We aimed to determine the prevalence of CRC-associated bacteria using quantitative real-time PCR (qPCR) or 16S rRNA analysis and the statistical correlations of patient demographics and clinical characteristics comprising alcohol consumption with CRC-associated bacteria. We determined the prevalence of five CRC-associated bacterial species in 38 CRC patients (39 samples) and 21 normal individuals using qPCR, and the relative abundance of bacterial taxa in the gut microbiome was assessed using 16S rRNA analysis. Fusobacterium nucleatum was the only bacterium that was significantly (P < 0.0001) more prevalent in the cancer tissue (82.1%) than in the normal tissue (0%) by qPCR. 16S rRNA analysis showed a significant correlation between six operational taxonomic units (OTUs), namely, the genera Fusobacterium, Peptostreptococcus, Collinsella, Prevotella, Parvimonas, and Gemella, in patients with CRC. An integrated analysis using 16S rRNA data and epidemiological characteristics showed that alcohol consumption was significantly correlated with the abundance of Fusobacterium OTUs. The correlation of alcohol consumption with the abundance of Fusobacterium OTUs in cancer tissue discovered using 16S rRNA analysis suggests a possible link between alcohol metabolism and subsequent tumorigenesis caused by F. nucleatum. [ABSTRACT FROM AUTHOR]

Objective: We aimed to identify common genes and recurrent causative variants in a large group of Asian patients with different epilepsy syndromes and subgroups. Methods: Patients with unexplained pediatric‐onset epilepsy were identified from the in‐house Severance Neurodevelopmental Disorders and Epilepsy Database. All patients underwent either exome sequencing or multigene panels from January 2017 to December 2019, at Severance Children's Hospital in Korea. Clinical data were extracted from the medical records. Results: Of the 957 patients studied, 947 (99.0%) were Korean and 570 were male (59.6%). The median age at testing was 4.91 years (interquartile range, 1.53–9.39). The overall diagnostic yield was 32.4% (310/957). Clinical exome sequencing yielded a diagnostic rate of 36.9% (134/363), whereas the epilepsy panel yielded a diagnostic rate of 29.9% (170/569). Diagnostic yield differed across epilepsy syndromes. It was high in Dravet syndrome (87.2%, 41/47) and early infantile developmental epileptic encephalopathy (60.7%, 17/28), but low in West syndrome (21.8%, 34/156) and myoclonic‐atonic epilepsy (4.8%, 1/21). The most frequently implicated genes were SCN1A (n = 49), STXBP1 (n = 15), SCN2A (n = 14), KCNQ2 (n = 13), CDKL5 (n = 11), CHD2 (n = 9), SLC2A1 (n = 9), PCDH19 (n = 8), MECP2 (n = 6), SCN8A (n = 6), and PRRT2 (n = 5). The recurrent genetic abnormalities included 15q11.2 deletion/duplication (n = 9), Xq28 duplication (n = 5), PRRT2 deletion (n = 4), MECP2 duplication (n = 3), SCN1A, c.2556+3A>T (n = 3), and 2q24.3 deletion (n = 3). Significance: Here we present the results of a large‐scale study conducted in East Asia, where we identified several common genes and recurrent variants that varied depending on specific epilepsy syndromes. The overall genetic landscape of the Asian population aligns with findings from other populations of varying ethnicities. [ABSTRACT FROM AUTHOR]

Clonal hematopoiesis (CH) is a condition in which healthy individuals have somatic mutations in hematopoietic stem cells. It has been reported with increased risk of hematologic malignancy and cardiovascular disease in the general population, but studies of Korean populations with comorbid disease entities are scarce. White blood cells (WBCs) from patients with gastric cancer (GC) (n=121) were analyzed using a DNA-based targeted (531 genes) panel with customized pipeline designed to detect single nucleotide variants and small indels with low-allele-frequency of ≥0.2 %. We defined significant CH variants as having variant allele frequency (VAF) ≥2 % among variants found in WBCs. Matched cell-free DNA (cfDNA) samples were also analyzed with the same pipeline to investigate the false-positive results caused by WBC variants in cfDNA profiling. Significant CH variants were detected in 29.8 % of patients and were associated with age and male sex. The number of CH variants was associated with a history of anti-cancer therapy and age. DNMT3A and TET2 were recurrently mutated. Overall survival rate of treatment-naïve patients with stage IV GC was higher in those with CH, but Cox regression showed no significant association after adjustment for age, sex, anti-cancer therapy, and smoking history. In addition, we analyzed the potential interference of WBC variants in plasma cell-free DNA testing, which has attracted interest as a complementary method for tissue biopsy. Results showed that 37.0 % (47/127) of plasma specimens harbored at least one WBC variant. VAFs of interfering WBC variants in the plasma and WBC were correlated, and WBC variants with VAF ≥4 % in WBC were frequently detected in plasma with the same VAF. This study revealed the clinical impact of CH in Korean patients and suggests the potential for its interference in cfDNA tests. [ABSTRACT FROM AUTHOR]

To report a case of a patient whose MYD88 mutation disappeared from the aqueous humor following treatment with intravitreal methotrexate. A retrospective review of clinical, histopathological and imaging records. A 49-year-old woman presented with bilateral primary vitreoretinal lymphoma confirmed by molecular and next-generation sequencing studies on vitreous biopsy samples. Initially, the MYD88 L265P mutation was detected in aqueous samples of both eyes. Serial testing for MYD88 L265P mutations performed on aqueous samples collected at the time of the weekly intravitreal methotrexate injections showed the mutation ceased to be detected after four weekly injections in the non-vitrectomized right eye and after two weekly injections in the vitrectomized left eye. Clinical improvement accompanied the negativization of the mutation in both eyes. We present a case that demonstrates the possible utilization of serial testing for the MYD88 L265P mutation as a tool for monitoring disease course in vitreoretinal lymphoma. [ABSTRACT FROM AUTHOR]

In addition to somatic mutations, germline genetic predisposition to hematologic malignancies is currently emerging as an area attracting high research interest. In this study, we investigated genetic alterations in Korean acute lymphoblastic leukemia/lymphoma (ALL) patients using targeted gene panel sequencing. To this end, a gene panel consisting of 81 genes that are known to be associated with 23 predisposition syndromes was investigated. In addition to sequence variants, gene-level copy number variations (CNVs) were investigated as well. We identified 197 somatic sequence variants and 223 somatic CNVs. The IKZF1 alteration was found to have an adverse effect on overall survival (OS) and relapse-free survival (RFS) in childhood ALL. We found recurrent somatic alterations in Korean ALL patients similar to previous studies on both prevalence and prognostic impact. Six patients were found to be carriers of variants in six genes associated with primary immunodeficiency disorder (PID). Of the 81 genes associated with 23 predisposition syndromes, this study found only one predisposition germline mutation (TP53) (1.1%). Altogether, our study demonstrated a low probability of germline mutation predisposition to ALL in Korean ALL patients. [ABSTRACT FROM AUTHOR]

In vivo, mammalian oocytes are surrounded by granulosa cells (GCs) that exist in a three-dimensional (3D) microenvironment with soft stiffness. The GCs play an important role for the in vivo growth and development of oocytes, through bidirectional communication between oocytes and GCs. To mimic the cellular microenvironment of a 3D organized follicle, this study designed a co-culture system using porcine ovarian GCs (pGCs) encapsulated in agarose matrix for in vitro maturation (IVM) of pig oocytes. We report the effects of our newly designed co-culture system on IVM and development of pig oocytes. Immature cumulus-oocyte-complexes (COCs) were matured on a 1% (w/v) agarose matrix encapsulated without or with pGCs. The number of pGCs within the agarose matrix was optimized by analyzing the in vitro development of parthenogenetic embryos. Moreover, the role of the ovarian stromal pGCs as feeder cells was assessed by analyzing the PA embryonic development. Subsequently, the effect of pGCs encapsulated in a 3D agarose matrix was evaluated for the developmental competence of pig oocytes by analyzing blastocyst formation after parthenogenetic activation (PA), intra-oocyte GSH and ROS contents, expression levels of BMP15 and BAX , TUNEL (terminal deoxynucleotidyl transferase-mediated d-UTP nick end-labeling) assay, protein expression levels of BMP15, and intra-oocyte ATP levels. The optimized number of pGCs (5 × 104 cells/well) in a 3D agarose matrix led to a significantly higher blastocyst formation, increased BMP15 gene and protein expression, and intra-oocyte ATP levels; moreover, it induced significantly lower intra-oocyte ROS contents, pro-apoptotic BAX gene expression, and apoptotic index, compared to control. Our results demonstrate that application of pGCs as feeder cells encapsulated in the agarose matrix for IVM effectively increases the developmental competence of porcine oocytes. • Effects of IVM on agarose matrix with granulosa cells on oocyte maturation and embryonic development were evaluated in pigs. • IVM under the granulosa cells (pGCs) in a 3D agarose matrix significantly increased BMP15 gene and protein expression. • IVM under the pGCs in agarose matrix increased intra-oocyte ATP levels and reduced ROS contents and apoptotic index. • Application of the agarose matrix with pGCs for IVM effectively increased the developmental competence of pig oocytes. [ABSTRACT FROM AUTHOR]

The North Pacific is a crucial region in decadal climate changes like the El-Ninõ Southern Oscillation (ENSO) and the Pacific decadal oscillation (PDO), which influence critically not only oceans but also atmosphere. Despite of the importance of ocean data in the North Pacific, available data have been rare due to limitation of accessibility. Data assimilation have been used to produce more reliable ocean data. The North Pacific is comprised of several distinctive areas, including the equatorial and tropical regions, subtropical regions, and the boreal Bering Sea region. Each region demonstrates various ocean current characteristics. Appropriate assimilation method considering the characteristics of the sea area might be selected. In this study, we compared the performance of Ensemble Optimal Interpolation (EnOI), a simplified version of Ensemble Kalman Filter (EnKF), according to ensemble composition and assimilation time interval and compared the regional performance difference between EnOI and EnKF in each region. Ocean circulation model in the North Pacific was conducted using ROMS from 2006 to 2015. Assimilation of sea surface temperature for 2015 using EnKF and EnOI methods with satellite data from the Operational Sea Surface Temperature and Sea Ice Analysis (OSTIA) was applied respectively. The RMSE of the Sea Surface Temperature of EnKF was lower than that of EnOI in the Northwest Pacific where the spatial SST correlation structure was complex. But, the RMSE of EnOI was lower than EnKF in the Equator area with simple SST correlation structure in SST. The efficiency of each method in terms of accuracy, resources and time was also compared. EnOI was faster by about 7 times than EnKF. [ABSTRACT FROM AUTHOR]

Previously, we reported that endometrial stromal (ES) and endometrial epithelial (EE) cells did not attach to tenascin C, indicating the absence of active integrin α9β1 on the surface of mouse ES and EE cells. However, that study used recombinant tenascin C without fibronectin (FN) type III repeats interacting with integrin heterodimers. Therefore, we re-evaluated the presence of integrin α9β1 actively functioning on the surface of mouse ES and EE cells using full-length native tenascin C with FN type III repeats. The functionality of integrin α9β1 was confirmed using attachment and antibody inhibition assays. Both mouse ES and EE cells showed significantly increased adhesion to native tenascin C, and functional blocking of integrin α9β1 significantly inhibited adhesion to native tenascin C. These results demonstrate that the integrin α9 and β1 subunits function as active heterodimers on the plasma membrane of mouse ES and EE cells, respectively. [ABSTRACT FROM AUTHOR]