Search

Three-dimensional distribution of arsenic (As) dopants at Σ3{111}, Σ9{221}, Σ9{114}, and Σ9{111}/{115} grain boundaries (GBs) in silicon (Si) is examined by correlative analytical methods using atom probe tomography (APT) combined with low-temperature focused ion beam (LT-FIB), scanning transmission electron microscopy, and ab initio calculations. Σ3{111} GBs, consisting of only 6-membered rings with small bond distortions, do not exhibit an apparent As segregation. Meanwhile, it is hypothesized that As atoms would segregate at 5-membered rings in the other GBs via anisotropic bond distortions spontaneously introduced so as to lower the donor level, as Jahn-Teller distortions. In addition, APT combined with LT-FIB suggests preferential As segregation around stretched 1 1 ‾ 0 bonds reconstructed in Σ9{114} and Σ9{111}/{115} GBs, that are inevitably introduced in the 1 1 ‾ 0 tilt GBs with the tilt angle larger than 70.5°. It is hypothesized that As atoms would form As dimers at stretched 1 1 ‾ 0 bonds and the adjacent ⟨ 111 ⟩ bonds, due to the tendency of As with five valence electrons to form a three-coordinated configuration, which is efficiently attained by an As dimer of a long length. This work provides important insights into As segregation at GBs; it is mainly determined by electronic interactions depending on the characteristics of valence electrons of As atoms, as well as on local bond distortions at GBs, via anisotropic bond distortions and dimerization. [ABSTRACT FROM AUTHOR]

We retrospectively analyzed 38 patients with AML who received azacitidine (AZA) to treat disease relapse after allogeneic hematopoietic stem cell transplantation (allo-HSCT). Patients with objective response (OR) (n = 20) after AZA had significantly higher 2-year overall survival (OS) (45.0% vs 5.6%; p = 0.004) than progressive disease. The 2-year OS was significantly higher in the retransplant group (n = 23) than in the nonretransplant group (n = 15) (34.8% vs 13.3%; p = 0.034). We analyzed 167 patients who underwent the second allo-HSCT to clarify the impact of pretransplant AZA after the second allo-HSCT. Patients in the AZA group (n = 21) had significantly higher 2-year disease-free survival (DFS) (32.7% vs 14.5%; p = 0.012) and OS (38.1% vs 17.5%; p = 0.044) than those in the SOC group (n = 146). Our data demonstrate that AZA is an effective and well-tolerated bridging therapy to the second allo-HSCT. [ABSTRACT FROM AUTHOR]

The technique to analyze circulating tumor DNA (ctDNA) in body fluid (so-called "liquid biopsy") is recently developed. Our aim was to assess the utility of liquid biopsy for predicting progression of pancreatic ductal adenocarcinoma (PDAC) after surgical resection or chemotherapy. A total of 72 patients with PDAC were retrospectively enrolled for this study, 33 treated surgically and 39 given chemotherapy, either FOLFIRINOX (oxaliplatin/irinotecan/fluorouracil/leucovorin) or gemcitabine plus nab-paclitaxel. Prior to treatment, patients were screened for the presence of KRAS mutations (G12D and G12V) in plasma using droplet digital polymerase chain reaction, and outcomes were compared. KRAS mutations were identified in plasma samples of 12 patients (36%) underwent surgical resection. Patients with plasma KRAS mutations had significantly shorter disease-free survival (DFS) and overall survival (p <.01 and p =.01, respectively). Of 10 clinical variables analyzed, plasma KRAS mutation was the factor predictive of DFS in multivariate analysis (RR = 3.58, 95% CI: 1.36–9.60; p =.01). Although 12 patients (31%) given chemotherapy tested positive for plasma KRAS mutations, there was no demonstrable relation between plasma KRAS mutations and progression-free survival (PFS) or overall survival (OS) (p =.35 and p =.68, respectively). In patients with PDAC, detection of KRAS mutations in plasma proved independently predictive of early recurrence after surgical resection but did not correlate with PFS following chemotherapy. [ABSTRACT FROM AUTHOR]

Cytokinesis-block micronucleus (CBMN) assay in cytogenetic biodosimetry uses micronucleus (MN) frequency scored in binucleated cells (BNC) for dose estimation. Cell-cycle progression parameters of nuclear division index (NDI) and percentage of BNC (% BNC) are also evaluated. Whole blood (WB) or peripheral mononuclear cells (PBMCs) isolated from WB can be used for lymphocyte culture. Previously, 2 Gy PBMCs showed higher NDI and lower MN frequency than WB in 15 ml polypropylene tube single cultures. In this follow-up study, we wanted to assess if soluble factors present in WB but absent in PBMCs could increase MN frequency or decrease NDI in PBMCs co-cultured with WB. Peripheral blood from four healthy donors (two males: 25, 51; two females: 23, 26 years old) was irradiated with X-ray at 1 Gy/min. CBMN assay was performed with different combinations of 0 and 2 Gy WB and PBMC (WB, WB-IR, PBMC, PBMC-IR) mono- and co-cultures in a polystyrene six-well plate. Co-cultures were separated by 0.4 µm transwell inserts. Log2 fold changes and values of NDI, % BNC and MN frequency analyzed by three scorers were obtained. As upper and lower wells of the same culture condition showed some significant differences, wells of the same level were compared. NDI of PBMCs increased when PBMC or PBMC-IR was co-cultured with WB or WB-IR, respectively, as compared to mono-cultures. There was no increase in PBMC-IR's MN frequency when co-cultured with WB or WB-IR. MN frequency was consistently higher in WB-IR than PBMC-IR in both mono- and co-cultures. NDI, % BNC and MN frequency were similar when WB or PBMC were co-cultured with PBMC-IR or WB-IR, respectively. Significantly lower NDI and % BNC, and higher MN frequency were also seen in some conditions of 15 ml cultures than six-well mono-cultures. Instead of the hypothesized decrease in NDI and increase in MN frequency, our co-culture set-up showed that in the absence of direct cell–cell interaction, soluble factors in WB increased NDI but not MN frequency in PBMCs. Moreover, radiation-induced bystander effects could not be observed. As the type of cell culture (WB, PBMC) and culture vessels could influence NDI and MN frequency, CBMN culture protocols should be kept consistent for dose–response calibration curve construction and dose estimation. [ABSTRACT FROM AUTHOR]

Purpose: To compare standard fluorescein angiography (FA) and ultra-wide-field (UWF) FA in evaluating sarcoid uveitis activity using the scoring system adopted by the Angiography Scoring for Uveitis Working Group (ASUWG). Methods: Standard and UWF FA images of 36 eyes with sarcoid uveitis were acquired on the same day. Three graders independently graded 72 FA images using the ASUWG scoring system. We evaluated inter-observer variability using the intra-class correlation coefficient (ICC) and compared scores of each angiographic sign. Results: The ICC was 0.77 for standard FA and 0.87 for UWF FA, with respective total scores of 12.0 and 14.6. UWF FA had higher scores than standard FA for optic disc hyperfluorescence, posterior retinal vascular staining and/or leakage, and peripheral capillary leakage. Conclusions: The scores for UWF FA had a higher ICC than those for standard FA in evaluating sarcoid uveitis. Peripheral capillary leakage scores were particularly high for UWF FA. [ABSTRACT FROM AUTHOR]

Optimal selection of pretransplant conditioning is crucially vital for improving survival and quality-of-life of patients who receive allogeneic hematopoietic cell transplantation (allo-HCT), particularly in those with high-risk diseases. In this study, we evaluated the efficacy and safety of recently-developed reduced-toxicity myeloablative regimen that combines fludarabine, intravenous busulfan, and melphalan (FBM). We conducted a single-center retrospective analysis of 39 patients (23 with myeloid neoplasms and 16 with lymphoid neoplasms), with a median age of 50 (range, 17–68) years, who underwent their first allo-HCT using the FBM regimen. Graft types were bone marrow in 11, peripheral blood in 11, and cord blood in 17 patients. Cyclosporine- or tacrolimus-based graft-versus-host disease (GVHD) prophylaxis was administered. The primary end point of the study was the overall survival rate at 2-year after transplantation. After a median follow-up of 910 days for the surviving patients, 2-year overall survival was 62% for the entire cohort; 73% in the low-to-intermediate-risk group and 44% in the high-to-very high-risk group classified by the refined CIBMTR Disease Risk Index. Cumulative incidences of engraftment, grade II-IV acute GVHD, chronic GVHD, relapse, and non-relapse mortality were 95%, 56%, 56%, 31%, and 17%, respectively. These results suggest that our FBM regimen can be applied to allo-HCT using various graft types and yields acceptable outcomes with relatively low non-relapse mortality in both myeloid and lymphoid neoplasms. Also, we observed a promising survival in the group of patients with high-risk diseases, warranting more accumulation of patients and longer follow-up. [ABSTRACT FROM AUTHOR]

A macrolayer formation model for predicting the critical heat flux (CHF) in saturated and subcooled pool boiling was proposed. The concept of this model was based on the bubble coalescence process, which was observed using a high-speed camera. In the present model, the thickness of the macrolayer was calculated assuming that the liquid volume remaining under the lower part of the bubble should contribute to the formation of the layer. A Poisson distribution was adopted for the distribution of nucleation sites. The predicted macrolayer thicknesses were used for the prediction of CHFs in saturated and subcooled pool boiling based on the macrolayer dryout model. This model reproduced the CHF values for pool boiling up to subcooling 40 K. The model concept was confirmed using a computational fluid dynamics code, where the assumption was that the liquid was captured and the macrolayer was formed at the coalescence of bubbles. [ABSTRACT FROM AUTHOR]

In this paper, we present an approach for the learning of a visuomotor system for a robotic rover using reinforcement learning (RL) within a simulation that combines both proprioceptive and exteroceptive information. With a rising interest in private lunar exploration, compact, power-efficient and cost-efficient rover concepts are becoming numerous. Many of these still use LIDARs for obstacle avoidance, however, using a camera could help achieve a more optimal system. Visual data contains structured information that can be used for understanding texture, localization and object recognition. That said, it is hard to use RL with raw high-resolution visual data due to the dimensional size, with over 6 million inputs in an image alone. By preprocessing the images to be segmented and down sampling to reduce size, we are able to achieve stable learning, and to teach a robot to understand footage to avoid obstacles and reach its goals. This method combines exteroceptive data from the camera and the goal location information along with proprioceptive information, such as the robot"s angular rotation. Moreover, whereas most approaches feed the RL output to a motion controller or trajectory generator, our RL agent is able to directly control the actuator outputs of the rover. [ABSTRACT FROM AUTHOR]

Cough is the most frequent presenting complaint in general practice and has an adverse effect on an individual's well-being. Understanding the causes of cough is critical for appropriate patient management. According to its duration, cough is classified as acute, subacute, and chronic. While acute respiratory infection is considered to be the major cause of acute cough, there is little evidence. We retrospectively assessed the prevalence of acute cough in all patients presenting with cough to the respiratory clinic of Japanese Red Cross Wakayama Medical Center from May 2018 to April 2019. We subsequently assessed the causes of acute cough, after stratifying patients with acute cough into two subgroups based on the chest X-ray findings. Among 685 patients (329 males; mean age, 61.8 ± 18.6 years) who presented with cough as a chief complaint, 274 (125 males; mean age, 57.6 ± 20.9 years) reported to have acute cough; chest X-ray abnormalities were detected in 113 of these patients. The most frequent cause of acute cough among 113 patients with chest X-ray abnormalities was pneumonia (55.8%), followed by lung cancer (9.7%) and pneumonia exacerbating asthma (7.1%). Among the 161 patients with acute cough without chest X-ray abnormalities, the most frequent cause was upper respiratory tract infection (57.1%), followed by asthma (23.6%) and cough variant asthma (6.2%). Cough is the most frequent presenting complaint in general practice. Infections are the most frequent causes of acute cough regardless of the chest X-ray findings. [ABSTRACT FROM AUTHOR]

This study aimed to examine lower limb kinematics during a side-cutting task in male collegiate soccer athletes with severe ankle laxity. Forty-seven participants with a history of ankle sprains and perceived ankle instability were categorized into non-laxity (n = 17), laxity (n = 19), and severe laxity (n = 11) groups using stress radiography tests. Three-dimensional kinematic data during the stance phase of a 45° side-cutting task were analysed. The frontal plane kinematics of the knee significantly differed between the three groups (p < 0.05). The severe laxity group exhibited a greater abduction angle than the non-laxity group (p < 0.05). The horizontal and sagittal plane kinematics of the rearfoot differed between the three groups during the end of the stance phase (p < 0.05). Our data suggest that collegiate soccer athletes with both perceived ankle instability and severe ankle laxity exhibit greater knee abduction movement during a 45° side-cutting task compared to those with only perceived ankle instability. [ABSTRACT FROM AUTHOR]

While the physical consequences of falls among wheelchair users with spinal cord injury have previously been examined, the psychosocial impacts remain understudied. Here, we explored the psychosocial impacts of falls and risk of falling from the perspectives of wheelchair users with spinal cord injury. Twelve wheelchair users (aged 41.8 ± 12.5 years; median 17.5 (range 3–44) years post-spinal cord injury) with traumatic spinal cord injury captured photographs of how falls and the risk of falling impacted their recreation/leisure and paid/volunteer work activities. Participants then engaged in photo-elicitation interviews to discuss the content depicted in the photographs. Interviews were analyzed using a thematic analysis. Two main themes emerged: (1) The varying concern about falling: While some participants experienced a high concern, others were not concerned about falling in their daily activities. The level of concern about falling varied among participants over time and across situations. (2) Fear, falling, and limitations: Falls could impact daily activities, parenting, work, leisure/recreation, and lead participants to want a life without a constant risk of falling. Falls have a significant psychosocial impact for some, but not all participants. Clinicians should explore whether and to what extent falls/fall risk have a lasting psychosocial impact, and work with individuals to create strategies that may reduce negative psychosocial impacts. This study highlighted that falls can have a significant psychosocial impact on the lives of some wheelchair users with spinal cord injury. Since a wheelchair user's concern of falls may change overtime, clinicians are encouraged to have ongoing dialogue about every wheelchair user's level of concern about falls. If a wheelchair user expresses a high concern of falls, clinicians are encouraged to provide appropriate supports and resources for individuals to continue engaging in meaningful activities. [ABSTRACT FROM AUTHOR]

The aim of this study was to examine the injury profile of Japanese university handball players. In this cross-sectional study, a total of 1017 participants who played in the 2018 Japanese National University Handball Championship were followed. The incidence within the previous year was 0.59 [95% CI, confidence interval: 0.56–0.62] per player per year. The ankle (33.3%), knee (23.6%), and shoulder/clavicle (12.6%) were the body regions most affected by traumatic mechanisms, while the lumbar spine/lower back (26.0%), knee (15.7%), and shoulder (15.0%) were the body regions most affected by overuse mechanisms. Sprain (30.7%), ligamentous rupture (23.2%), and fracture (11.8%) were the main types of traumatic injuries, and stress fracture (25.0%) and lesion of meniscus or cartilage (25.0%) were the main types of overuse injuries. Female players were 1.5 times more likely (OR, odds ratio: 1.55 [95% CI: 1.20–2.01]) to experience an injury than their male counterparts, and line players were also 1.5 times more likely (OR: 1.49 [95% CI: 1.00–2.21]) to experience an injury than their wing counterparts. This study showed that there is a need for increased injury prevention efforts in Japanese handball, especially among female players. [ABSTRACT FROM AUTHOR]

Given the high risk of bleeding in post-endoscopic submucosal dissection (ESD) patients receiving antithrombotic therapy, a new effective method is needed to prevent delayed bleeding among such patients. The aim of this study was to assess the efficacy of endoloop closure, using an endoloop and clips, after gastric ESD to prevent bleeding among patients receiving antithrombotic therapy. This retrospective study enrolled patients taking antithrombotic agents who underwent ESD for early gastric cancer between March 2016 and January 2019. Patients were classified into two groups: the endoloop closure group and the control group (no prophylactic treatment). We compared the rates of post-endoscopic submucosal dissection bleeding between the two groups. Overall, 178 patients were included, with 37 patients in the endoloop closure group and 141 patients in the control group. The rate of post-endoscopic submucosal dissection bleeding was in general lower in the endoloop closure group than in the control group; however, the difference was not statistically significant (8% vs. 23%, p = 0.06). Among patients with a resected specimen size <40 mm and those using multiple antithrombotic agents, the endoloop closure group showed a lower rate of post-endoscopic submucosal dissection bleeding (0% vs. 16%, p = 0.03 and 10% vs. 70%, p = 0.02, respectively). Closure using an endoloop and endoclips after gastric ESD might prevent post-procedure bleeding in patients receiving antithrombotic therapy, particularly in those patients with a resected specimen <40 mm and those receiving multiple antithrombotic agents. [ABSTRACT FROM AUTHOR]

Cervical cancer ranks the second female malignancy after breast cancer. Cancer stem cells (CSCs) are hard to be eradicated, so can recur. We aim to isolate and characterize CSCs from HeLa cells. These cells express clusters of differentiation (CDs), 44 and 24, to be sorted by fluorescence-activated cell sorting (FACS). CD44+CD24+ cells showed potential to form spheres, tumorigenicity, stemness genes and higher resistance to cisplatin, X-ray. CD44+CD24+ HeLa cells hold characteristics of CSCs, in vitro, in vivo studies, suggesting that targeting may lead to screening of new anti-cancer therapies. [ABSTRACT FROM AUTHOR]

Growth traits, yield, N content, photosynthetic pigments, ammonia and amino acids were measured to verify the effect of the interaction between N, Ni, and 2,4-D applied in the cotton crop. The objective was to study the hormonal effect of 2,4-D associated with the application of N and Ni in coverage to improve yield. The N (0, 40, 80, and 120 kg ha−1) and Ni(0, 300, 450, and 600 g ha−1) were applied to the soil in the square phenological growth stage. The commercial 2,4-D DMA® BR (0 and 1.8 g a.e ha−1) was applied to the leaves at the same growth stage. The supply of N in cover fertilization up to 120 kg ha−1 was beneficial for cotton, providing greater yield and content of photosynthetic pigments. The application of 2,4-D in a hormetic dose, as a synthetic auxin during the beginning of flowering, proved to be a promising technique to improve cotton yield. This end-of-cycle response is related to the requirement for auxins during the cotton fruiting process. [ABSTRACT FROM AUTHOR]

Searching the internet for health-related information is a complex and dynamic goal-oriented process that ostensibly places demands on executive functions, which are higher-order cognitive abilities that can deteriorate with older age. This study examined the effects of older age on electronic health (eHealth) search behavior and the potential mediating influence of executive functions. Fifty younger adults (≤ 35 years) and 41 older adults (≥50 years) completed naturalistic eHealth search tasks involving fact-finding (Fact Search) and symptom determination (Symptom Search), a neurocognitive battery, and a series of self-report questionnaires. Multiple regression models controlling for potentially confounding psychiatric symptoms, health conditions, literacy, and demographic variables revealed that older adults were slower and less accurate than younger adults on the eHealth Fact Search task, but not on the eHealth Symptom Search task. Executive functions mediated the relationship between age and Fact and Symptom Search accuracy, independent of basic processing speed and attention. Parallel mediation models showed that episodic memory was not an independent mediator of age and search accuracy for either eHealth task once speed/attention and executive functions were included. Older adults can experience difficulty searching the internet for some health-related information, which is at least partly attributable to executive dysfunction. Future studies are needed to determine the benefits of training in the organizational and strategic aspects of internet search for older adults and whether these findings are applicable to clinical populations with executive dysfunction. [ABSTRACT FROM AUTHOR]

Purpose: To report 24-month results after one intravitreal ranibizumab (IVR) injection followed by pro re nata (PRN) dosing for macular edema (ME) after branch retinal vein occlusion (BRVO). Methods: Eyes with BRVO met the followings were included: 77 letters or less best-corrected visual acuity (BCVA) (Early Treatment Diabetic Retinopathy Study [ETDRS] score) and central retinal thickness (CRT) of 250 µm or more. IVR injection was performed followed by a PRN regimen. The retreatment criteria included visual loss of five or more ETDRS letters compared with the previous visit, 250 µm or more of CRT, or presence of residual or recurrent ME including the parafoveal lesions. The primary outcome measures were the BCVA changes at month 12 and month 24 from baseline, and the secondary outcomes were changes in CRT, resolution of ME, the number of IVR injections, and changes of nonperfused areas (NPAs). Results: Twenty eyes of 20 patients (5 men, 15 women; mean age, 68.2 years) were enrolled. The mean BCVAs (ETDRS letters) at baseline, month 12, and month 24 were 62.0, 80.2, and 80.9, respectively. The mean ETDRS letters gains were 18.3 and 19.0 at month 12 and month 24, respectively. The percentages of patients with Snellen equivalent BCVAs of 20/20 or better at month 12 and month 24 were 75% and 70%, respectively. The mean CRTs at baseline, month 12, and month 24 were 480, 252, and 272 μm, respectively. Forty percent of all eyes had complete resolution of ME. The mean number of IVR injections was 8.3 times, which gradually decreased over time. The NPA change in either Zone 1 or Zone 2 was not significant during the follow-up. No adverse side effects were observed. Conclusion: IVR injection followed by a PRN regimen provided pretty good visual outcomes at month 24. [ABSTRACT FROM AUTHOR]

: To explore the medical literature on techniques of tissue and sperm handling after surgical retrieval for intracytoplasmic sperm injection (ICSI). : A search was performed in PubMed and Google Scholar databases, according to a modified Preferred Reporting Items for Systemic Reviews and Meta-Analyses (PRISMA) guideline, considering the studies investigating tissue handling and sperm selection techniques for ICSI. : Overall, 42 articles were included in this study, investigating sample handling, methods for sperm selection, and the use of chemical compounds to improve sperm motility and fertilisation rates. : The ideal sperm handling method should provide a high sperm count, high vitality and appropriate sperm function, without side-effects. In this review the most common and useful techniques are described and the best combination strategies discussed in clinical scenarios. [ABSTRACT FROM AUTHOR]

Otological diseases including Meniere's disease (MD) involve endolymphatic hydrops (EH), which can be visualized by magnetic resonance imaging (MRI) with gadolinium contrast agents, but the temporal changes of contrast in the inner ear have not been evaluated. We investigated the permeability of the blood–perilymph barrier (BPB) in ears with EH to evaluate the severity of the inner ear disturbances. The study included 32 ears from 16 patients with EH or related diseases who underwent MRI. The permeability of the BPB was assessed by the signal–intensity ratio (SIR) at four-time points: before and at 10 min, 4 h, and 24 h after administration of gadolinium for assessing EH. Cochlear EH was found in 25 of the 32 ears, and vestibular EH in 11. The rate of EH was significantly higher in symptomatic ears; however, the existence of EH was not related to SIR values. Nevertheless, SIR values in the basal turn were significantly higher 4 and 24 h after injection of gadolinium in patients aged ≥50 years. Higher SIR values observed in older patients with EH indicate severe disturbances of the BPB in the cochlea, which may account for intractable inner ear disturbances in older patients. [ABSTRACT FROM AUTHOR]

Potassium (K) fertilizers have been widely used to promise agricultural production, yet rice (Oryza sativa L.) showed healthy growth for long periods under K-deficient conditions. These findings imply that rice could take up minerals-bound K as non-exchangeable K. When the weathering of primary silicate minerals occurs in the rhizosphere of rice, the rice takes up not only dissolved K but also dissolved silicic acid (SiO2). We grew three rice cultivars with different Si-uptake abilities (Hokuriku 193, Oochikara, and Lsi-1) in granitic Fluvisol under K- and Si-deficient conditions to quantitatively reveal the significance of the Si-uptake by rice for the mineral weathering in the rhizosphere. As a result, the Si-uptake quantity by rice was positive linearly correlated with the amount of Al accumulation in soil, suggesting a substance containing a certain ratio of Si and Al was decomposed by rice. The K:Al:Si molar ratio of the decomposed substance by rice was 0.2:1:2.6, and the ratio is suggestive of silicate minerals such as K-feldspar. Because silicate minerals such as K-feldspar (e.g., KAlSi3O8) contain a large amount of aluminum (Al), Al release alongside K ions and silicic acid in their weathering. Dissolved Al is highly active and can be stabilized by combining with organic matter (OM) or silicic acid in the rhizosphere. The Si-uptake levels and mineral decomposing abilities of rice affected the variety of the accumulated substances (i.e., Al hydroxy oxide with OM, clay minerals) in the soil after cultivation. In particular, the Al hydroxy oxide with OM accumulates as persistent soil organic carbon. Thus, it appears that the Si-uptake abilities of plants have a great influence on the weathering of minerals and their products. [ABSTRACT FROM AUTHOR]

Sit-to-stand motion is an important daily activity, and it is important to study the mechanism of the motion to improve the ability when it becomes weak. To study the mechanism, we hypothesized that muscle synergy generates muscle activity as a feedforward signal, which is modified by sensory input. This study focuses on determining the sensory input primarily used for modifying sit-to-stand motion. To obtain this, we built artificial neural network models that generate muscle activities based on sensory input and feedforward signals and analyzed the effect of each input on the output. The models were built for each motion phase. The input was information from vestibular and somatosensory input and averaged muscle synergy as feedforward signals, and the output was muscle synergy. As a result, it was revealed that humans may primarily use hip angle to bend forward, ankle and vertical foot reaction force to hip rise, ankle, knee, and lumber angles and vertical foot reaction force to extend body, and lumber angle to stabilize. This indicates the type of sensory input used to control each muscle synergy in each motion phase. The information should be used to modify the sit-to-stand motion in environmental conditions where the motion is performed. [ABSTRACT FROM AUTHOR]

The purpose of this study was to compare digit lengths and proximal phalanx lengths in newborn infants by using ultrasonography (USG) and to examine sex differences between the ratio of the second digit (2D) and fourth digit (4D) of digit length and that of proximal phalanx length and the associations of digit length and proximal phalanx length with birth weight and birth height. Sixty newborn infants (28 males and 32 females) were recruited. Digit lengths were measured by using a transparent ruler and proximal phalanx lengths were measured by using USG. There were significant correlations between digit length and proximal phalanx length in the left and right hands. There was no significant correlation between 2D:4D ratios of digit lengths and 2D:4D ratios of proximal phalanx lengths measured by using USG. In males, birth height was significantly associated with right fourth proximal phalanx length and with left second and fourth proximal phalanx lengths. Birth weight was significantly associated with proximal phalanx length in males. Proximal phalanx length measured by using USG was significantly associated with digit length in newborn infants. Hormonal exposure before birth may be involved in the associations of proximal phalanx length with birth weight and height in males.Impact statementWhat is already known on this subject? The ratio of the second digit (2D) and fourth digit (4D) has been used postnatally to provide a retrospective indication of the foetal hormonal environment. Digit lengths have been measured by using a direct method, photocopies, digital scans and radiographs, but the results of a study on measurement of digit lengths by using ultrasonography (USG) have not been reported.What do the results of this study add? Proximal phalanx length measured by using USG was significantly associated with digit length in newborn infants. In males, birth height was significantly associated with right fourth proximal phalanx length and with left second and fourth proximal phalanx lengths. Birth weight was significantly associated with proximal phalanx length in males.What are the implications of these findings for clinical practice and/or further research? Measurement of proximal phalanx length by using USG may be useful for a study on gender differences in foetal development and the foetal hormonal environment. Hormonal exposure before birth may be involved in the associations of proximal phalanx length with birth weight and height in males. [ABSTRACT FROM AUTHOR]

Colonoscopy is the gold standard for detecting earlier stages of CRC, although screening of patients is difficult because of invasiveness, low compliance and procedural health risks. Therefore, the need for new screening methods for CRC is rising. Previous studies have demonstrated the diagnostic ability of serum BAs; however, the results have been inconsistent. In this study, we conducted a comprehensive analysis of serum BAs from patients with CRC and verified their diagnostic ability to detect CRC. A total of 56 CRC patients (n = 14 each of stages I–IV), 59 patients with colonic adenoma and 60 healthy controls were included. Age and sex were matched for each group. Serum BA compositions were measured by LC-MS/MS and serum concentration of 30 types of BAs were analysed by discriminant analysis with multidimensional scaling method. Free CA, 3epi-DCA&CDCA, 3-dehydro CA, GCA and TCA were extracted as principal component (PC) 1 and free 3-dehydroDCA as PC 2 by canonical discriminant function coefficients. The verification of discriminability using cross-validation method revealed that the correct classification rate was 66.3% for original data and 52.6% for cross-validation data. A combined analysis using comprehensive serum BA concentration can be an efficient method for screening CRC. [ABSTRACT FROM AUTHOR]

Patients with stroke experience declined physical functions and aim to recover by rehabilitation. It is important to improve their functions in the subacute period. Hemiplegic patients who can stand exhibit differing characteristics such as the center of mass and muscle synergy compared to healthy subjects. However, the characteristics to be achieved by the sit-to-stand motion in the subacute period is unknown. This study investigated the sit-to-stand motions of hemiplegic patients (n = 21) in three months of stroke onset. The patients were partitioned into two groups ('mild' and 'severe'), based on the functional independence score at the time of discharge, and the patient's sit-to-stand motion in the subacute period was analyzed by muscle synergy and kinematics. The severe patients performed a biased standing on the non-paralyzed side, and the activation timing of muscle synergy that contributes to whole-body extension was earlier than that of the mild patients. This study contributes to the development of guidelines for optimal intervention for each patient. [ABSTRACT FROM AUTHOR]

Four new quinoxaline-spanned cavitands having a diester hydrogen phosphate group were successfully synthesised. These phosphorous derivatives were applied in Brønsted acid-assisted catalytic conjugate addition reactions. The results were ranked with the control of diphenyl hydrogen phosphate as well as among those four cavitands. The structure–activity relationship revealed that the catalyst centre surrounded by two trans-positioned quinoxalines significantly influences reaction profile and product distribution. This comparative study provides us an intellectual basis for future catalytic cavitand chemistry and artificial enzymatic catalysis. [ABSTRACT FROM AUTHOR]

Atom probe tomography (APT) and selected area electron diffraction (SAED) by transmission electron microscopy (TEM) were applied to nano-scale precipitates formed in a neutron-irradiated iron (99.99% pure) at high temperatures. In the conventional TEM, we discovered donut-type precipitates on the {100} planes that formed at the dilatational side of interstitial type dislocation loops with the Burgers vector of <100> on the habit planes of {100} in the bcc iron lattice. The precipitates were identified as nitride, bct α″-Fe16N2, by chemical composition and lattice structural analyses using APT and SAED. Image contrasts of the α″-Fe16N2 in a weak beam dark-field electron microscopy study were carefully analysed with the diffraction vector and the sign of deviation parameter from the Bragg condition, and it was concluded to be a selective visualisation of α″-Fe16N2 on one of the {100} planes. These results were in agreement with the crystallographic orientation between the α″-Fe16N2 and matrix iron, thereby bridging a knowledge gap in α″-Fe16N2 formation during neutron irradiation using a sodium-cooled experimental fast reactor, JOYO, or a 14 MeV D-T neutron source, RTNS-II. [ABSTRACT FROM AUTHOR]

Bladder cancer (BC), a main neoplasm of urinary tract, is usually inoperable and unresponsive to chemotherapy. As a novel experimental model for muscle-invasive BC, we previously established a culture method of dog BC organoids. In the present study, the detailed in vitro and in vivo anti‐tumor effects of trametinib were investigated by using this model. In each BC organoid strain, epidermal growth factor receptor (EGFR)/ERK signaling was upregulated compared with normal bladder cells. Trametinib even at a low concentration inhibited the cell viability of BC organoids and the activation of ERK through decreasing expression of c-Myc, ELK1, SIK1, and PLA2G4A. Trametinib arrested cell cycle of BC with few apoptosis. Dual treatment of BC organoids with trametinib and YAP inhibitor, verteporfin extremely inhibited the cell viability with apoptosis induction. Moreover, trametinib induced basal to luminal differentiation of BC organoids by upregulating luminal markers and downregulating basal ones. In vivo, trametinib decreased the tumor growth of BC organoids in mice and the xenograft-derived organoids from trametinib-administered mice showed enhanced sensitivity to carboplatin due to MSH2 upregulation. Our data suggested a new strategy of trametinib-YAP inhibitor or trametinib-carboplatin combination as a promising treatment of BC. [ABSTRACT FROM AUTHOR]

Family caregivers provide essential support to individuals recovering after experiencing a stroke. Although clinical guidelines recommend the provision of caregiver education and support, these guidelines have not been implemented into standard clinical practice. The objective of this study was to gain insight from key informants—affiliates of a regional stroke system—to identify organization and system level barriers and facilitators associated with implementing stroke caregiver programs. Twelve key informants were interviewed. Informants discussed their experiences with and perceptions of caregiver programs. They also identified barriers and facilitators to implementing caregiver programs. Interview data were analyzed using inductive thematic analysis. Three themes were generated: (1) lack of consensus on the need for caregiver education and support programs as part of the health care system; (2) a collaborative process is needed to engage stakeholders and identify champions (3) stakeholders need different types of evidence in support of implementation. This study provides initial insight into the potential barriers and facilitators needed to develop and implement stroke caregiver programs. Further exploration of these topics can inform caregiver program development and their implementation into stroke systems of care. Rehabilitation research needs to demonstrate that caregivers are a unique group in need of support from the health care system. Rehabilitation research needs to contribute to the evidence that caregiver programs can improve patient, caregiver, and health system outcomes. Researchers can enhance caregiver program implementation through collaboration between researchers, stakeholders, and system change champions starting with program development. [ABSTRACT FROM AUTHOR]

Previous studies have demonstrated a reliable effect of parallelism in a variety of domains. These studies have suggested that parallelism is preferred during both production and comprehension, and that parallelism can result in facilitation during sentence processing. There is, however, some debate about whether such effects are truly limited to coordination. In both coordinate and subordinate environments we examined whether parallelism affects pronoun resolution, and furthermore investigated whether distance between a pronoun and an antecedent (locality) affects the retrieval process. Two experiments, each consisting of an offline forced choice task as well as an eye tracking task, indicated that both locality and parallelism influence the pronoun resolution process in both coordinate and subordinate contexts. These findings are discussed in light of popular retrieval models. [ABSTRACT FROM AUTHOR]

To examine the potential for natural regeneration of Picea glehnii, seeds and current-year seedlings were evaluated at a scarification site. Three surface-soil treatments of different scarification intensity were used: removed, organic soil was mostly removed from the site; remained, some soil remained at the site; and replaced, the soil was removed but replaced. Seeds were sown in the fall, and samples were collected in the following spring to examine the rot rate by fungi. Germination, mortality, growth, and mycorrhiza formation rate of the seedlings were recorded in the first growing season. The seed rot rate was generally low, and no significant differences among surface-soil treatments were observed. The germination rate was higher in the removed treatment than in the other treatments, but seedling survival was lower, and the final seedling density was similar to that in the replaced treatment. Seedling total weight and ectomycorrhizal formation rate were higher in the replaced treatment than in the removed treatment, suggesting that the higher amount of organic soil at the site led to better growth at least in the first growing season. Correlation analysis indicated that a high soil moisture content associated with the presence of organic soil contributed to survival and growth. [ABSTRACT FROM AUTHOR]

In eukaryotes, genomic DNA is packaged into nucleosomes, which are the basal components coordinating both the structures and functions of chromatin. In this study, we screened a collection of mutations for histone H3/H4 mutants in Saccharomyces cerevisiae that affect the DNA damage sensitivity of DNA damage tolerance (DDT)-deficient cells. We identified a class of histone H3/H4 mutations that suppress methyl methanesulfonate (MMS) sensitivity of DDT-deficient cells (referred to here as the histone SDD mutations), which likely cluster on a specific H3-H4 interface of the nucleosomes. The histone SDD mutations did not suppress the MMS sensitivity of DDT-deficient cells in the absence of Rad51, indicating that homologous recombination (HR) is responsible for DNA damage resistance. Furthermore, the histone SDD mutants showed reduced levels of PCNA ubiquitination after exposure to MMS or UV irradiation, consistent with decreased MMS-induced mutagenesis relative to that of wild-type cells. We also found that histone SDD mutants lacking the INO80 chromatin remodeler impair HR-dependent recovery from MMS-induced replication arrest, resulting in defective S-phase progression and increased Rad52 foci. Taken together, our data provide novel insights into nucleosome functions, which link INO80-dependent chromatin remodeling to the regulation of DDT and HR during the recovery from replication blockage. [ABSTRACT FROM AUTHOR]

The self-assembling behavior of Bombyx mori silkworm fibroin was investigated focusing on the interaction of the two types of silkworm sericin fractions (P, M) with the fibroin in the static and flow states. The dissociation of the sericin M fraction from the fibroin allowed the fibroin to form the silk2 crystal guided by the sericin P fraction still interacting with the fibroin. Water annealing in room temperature water, or the enzymatic hydrolysis caused by the contamination by fibroinase, weakened the interaction between the fibroin and the sericin M fraction. Thus, the interaction of the sericin P fraction with the fibroin was considered to be more stable than that of the sericin M fraction. As a result all of the entities that assembled in the flow state gave almost similar WAXD intensity curves although the coagulation conditions were changed at every trial. The morphology of the entities obtained in the flow state became film-like when a two-dimensional interface was generated between the fibroin and the free sericin molecules. On the other hand, it became fibrous when the fibroin interacted with a new protein fraction (a minor protein fraction that can cause the solution of fibroin into water) instead of the sericin fractions. [ABSTRACT FROM AUTHOR]

Copyright of Annals of the American Association of Geographers is the property of Taylor & Francis Ltd and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Quantile regression at the tail, the estimation of which is challenging because of data sparsity, is of interest in several fields such as financial cost calculations, rainfall prediction, and environmental risk assessment. In linear models, the tail behavior of a quantile regression estimator is well developed. However, for some data, a linear model is unrealistic at the tail, requiring us to use a more flexible model. In this regard, we focus on using models with varying coefficients. Thus, the study presented in this paper is concerned with extremal quantile regression based on models with a varying coefficient. [ABSTRACT FROM AUTHOR]

A reliable optical diagnosis of superficial nonampullary duodenal epithelial tumors (SNADETs) to guide optimal treatment strategy is lacking. The aim of this study was to simulate the treatment outcomes based on optical diagnosis using white light imaging (WLI) or magnifying endoscopy with narrow band imaging (MNBI) and to evaluate the method to extract optimal lesions suitable for cold snare polypectomy (CSP) or not. We created a decision tree model using WLI and MNBI diagnosis for ideal treatment for SNADETs. Optical diagnoses of Vienna category 3 lesions (C3), category 4/5 (C4/5) were defined based on the WLI scoring system or the MNBI pattern diagnosis. Ideal treatments were CSP for C3 < 10mm, and endoscopic mucosal resection, endoscopic submucosal dissection or surgery for lesions ≥10mm or C4/5. Ideal treatment results based on optical diagnosis were analyzed according to actual pathological results. A total of 218 lesions with pre-operative diagnosis of SNADETs were included for analysis. Percentage of ideal treatment for C3 < 10mm based on WLI or MNBI or both was 88%, 83% and 97%. When WLI and MNBI diagnoses predicted the same histology, the specificity, positive predictive value and accuracy were significantly higher than those of WLI or MNBI alone (p <.05). A decision tree model using lesion diameter, WLI scoring and MNBI pattern diagnosis is hypothetically useful to select ideal lesions for CSP among SNADETs. Optical diagnosis using both WLI and MNBI is more useful than WLI or MNBI alone. [ABSTRACT FROM AUTHOR]

In suspected radiation exposures, cytokinesis-block micronucleus (CBMN) assay is used for biodosimetry by detecting micronuclei (MN) in binucleated (BN) cells in whole blood and isolated peripheral blood mononuclear cell (PBMC) cultures. Standardized harvest protocols for whole blood were published by the International Atomic Energy Agency (IAEA) in 2001 (Technical report no. 405) and 2011 (EPR-Biodosimetry). For isolated PBMC harvest, cytocentrifugation of fresh cells is recommended to preserve cytoplasmic boundaries for MN scoring. However, cytocentrifugation utilizes specialized equipment and long-term cell suspension storage is difficult. In this study, an alternative CBMN harvest protocol is proposed for laboratories interested in culturing PBMCs and storing fixed cells with routine biodosimetry methods. Peripheral blood from 4 males (24, 34, 41, 51 y.o.) and females (26, 37, 44, 56 y.o.) was irradiated with 0 and 2 Gy X-rays. For cells harvested with IAEA 2001 and 2011 protocols, whole blood was used. For cells harvested with our protocol (CRG), isolated PBMCs were used. CRG protocol was validated in DAPI, acridine orange and Giemsa stain, and in three other laboratories. Cytoplasm status, nuclear division index (NDI) and induced MN frequency (MN frequency at 2 Gy – background MN frequency at 0 Gy) (MN/1000 BN) of Giemsa-stained BN cells were compared in IAEA 2001, IAEA 2011, IAEA 2011 + formaldehyde (FA) and CRG protocols. Effects of low and high humidity spreading were evaluated. >94% of 1000 BN cells were scorable with clear cytoplasmic boundaries in all donors harvested with CRG protocol. FA addition in IAEA 2011 protocol reduced cell rupture in whole blood cultures, but cell rupture was affected by age, sex and humidity. Almost all cells harvested with IAEA 2001 protocol had cytoplasm loss. PBMCs harvested with CRG protocol stained well in DAPI, acridine orange and Giemsa, and showed high scorable BN frequency in all laboratories. A higher NDI and a lower induced MN frequency were seen in 2 Gy isolated PBMC than whole blood cultures. This quick CBMN harvest protocol for isolated PBMCs is a viable alternative to cytocentrifugation, as many scorable BN cells were obtained with routine biodosimetry reagents and equipment. IAEA 2011 + FA protocol should be used to improve CBMN harvest in whole blood cultures. Humidity during spreading should be optimized depending on the harvest protocol. NDI and MN frequency should be separately evaluated for whole blood and isolated PBMC cultures. [ABSTRACT FROM AUTHOR]

Gorham-Stout disease (GSD) is a rare and idiopathic bone disorder, characterized by massive osteolysis. To date, there is no established treatment strategy for GSD. We empirically treated two patients, who had presented to us with cranial lesions of GSD. Here, we propose a novel algorithm for the management of Gorham's disease based on our experience and review the literature published to date. We reviewed all existing literature on GSD describing the pathophysiology and suggested treatment methods, up to 2018. We found 13 papers with 14 reported cases; an inclusion of our two cases brings the total count up to just 16 recorded cases of GSD involving the skull. Of these, the base of the skull was affected in eight cases, while the remaining eight cases showed cranial involvement. The patients with skull-base involvement were managed conservatively, using medications or radiotherapy. The patients with cranial osteolysis were managed surgically, with an excision of the osteolytic portion, followed by cranioplasty. Of the latter group, the pericranium was not removed in one patient, in whom a very slight progression of the osteolytic process was later observed. The pathogenesis of GSD remains poorly understood. Further study is required to determine an optimum management strategy. A long-term follow-up will also be necessary to establish the effectiveness of the treatment process. The untreated patients show a progressive resorption of the affected bones of the skull. A painful, vanishing skull deformity is an alarming sign of GSD. Early diagnosis and treatment are necessary to arrest disease progression and to prevent complications. [ABSTRACT FROM AUTHOR]

In order to quantify the seasonal differences in the comfort temperature and to develop a domestic adaptive model for highly insulated Japanese dwellings, thermal measurements and a thermal comfort survey were conducted. We collected 19,081 thermal comfort votes from 94 residents of 69 flats. The results suggest that the residents are highly satisfied with the thermal environment of their dwellings. People are highly adapted to the thermal condition of the dwellings, and the comfort temperature has seasonal variation. An adaptive model for these dwellings was derived from the data, to relate the indoor comfort temperature to the prevailing outdoor temperature. Perhaps because of the high insulation of the condominiums, the seasonal differences of comfort temperature and the regression coefficient of the adaptive model are smaller than those of detached houses. Adaptive building design and adaptive thermal comfort of people are important for energy-saving building design. [ABSTRACT FROM AUTHOR]

Charge trap in amorphous perfluoro-polymer electret is studied, focusing on electron trap site and trap energy. Low-energy inverse photoelectron spectroscopy is adopted to measure solid-state electron affinity (EA) of cyclic transparent optical polymer (CYTOP). EA of CYTOP CTL-S is discovered by compensating the unwanted charge-up effect. Negatively-charged electret materials (polyethylene, ethylene-tetra-fluoro-ethylene, poly-tetra-fluoro-ethylene, and CYTOP) are analyzed by quantum mechanical calculation. Density functional theory with long-range correction is adopted to analyze orbital energies of single molecular systems. Intramolecular distribution of trapped electron and EA are investigated. Calculated electron affinities of CYTOP polymers with different end group are qualitatively in accordance with trapped charge stability measured with thermal stimulated discharge, signifying that electron affinities obtained with the present simulation can be used as an index of amorphous polymer electret. [ABSTRACT FROM AUTHOR]

In this study a detection method for 2S albumin (14-kDa albumin) among the sesame allergens was developed. Polyclonal antibodies against 14-kDa albumin from sesame seeds (anti 14-kDa albumin antibody) were prepared. The anti 14-kDa albumin antibody absorbed with acetone powder from soybean seeds specifically reacted with sesame albumin, and did not react with albumins from soybean, corn, Arabidopsis. The absorbed anti 14-kDa albumin antibody was used as a probe for screening sesame varieties with scant albumins by indirect enzyme-immunosorbent assay (ELISA). We isolated accession number (Acc. No.) 526 with one-third of albumin amounts compared to standard variety Acc. No. 800. This method will be useful in breeding sesame cultivars with low sesame allergens [ABSTRACT FROM AUTHOR]

High signals in the inner ear of idiopathic sudden sensorineural hearing loss (ISSNHL) on magnetic resonance imaging (MRI) have been reported, but no quantitative evaluation has yet been done. To evaluate hearing outcomes and cochlear signal intensities on 3-T heavily T2-weighted three-dimensional fluid-attenuated inversion recovery magnetic resonance imaging (hT2W-3D-FLAIR) in patients with ISSNHL. Twenty-nine patients with ISSNHL were included. Patients underwent hT2W-3D-FLAIR with intravenous gadolinium injection and pure tone audiometry (PTA) at initial visits and 3 months later. Signal intensity ratios (SIRs) were measured in the basal or apical-middle turns of the affected cochlea. A statistical analysis of relationships between SIRs and the average hearing levels (HLs) at low (125, 250, and 500 Hz) and high (2, 4, and 8 kHz) tone frequencies was performed. Hearing improvements at high-tone frequencies in ears with HLs ≥60 dB were significantly worse in those with high SIRs at the basal turns on pre-contrast images. Similarly, hearing improvements at low-tone frequencies in ears with HLs ≥60 dB were significantly worse in those with high SIRs at the apical-middle turns on post-contrast images. High SIRs on hT2W-3D-FLAIR indicate cochlear disturbances with severe ISSNHL and could provide lesion-specific prognostic information. [ABSTRACT FROM AUTHOR]

Mothers involved in child care may be prone to various cognitive failures (e.g., leaving things behind) as a result of being overburdened with maternal duties, with limited attentional capacity for responding to children's frequent demands. Therefore, this study aimed to explore factors associated with cognitive failure among mothers involved in child care in Japan. The participants were 310 mothers aged 25-45 (155 full-time workers, 155 housewives). The self-reported questionnaire covered cognitive failure (outcome variable), basic demographic characteristics, sociological factors, health status, and personality. Cognitive failure was assessed using the 15-item Japanese version of the Short Inventory of Minor Lapses. The variables evaluated for potential associations with cognitive failure included mother's age, youngest child's age, number of children, employment status, daily sleep duration, time spent on leisure activities, fatigue, social support (instrumental and emotional), use of child care services, and the Big Five personality traits (neuroticism, extraversion, openness, agreeableness, and conscientiousness). Multiple regression analysis showed that number of children, fatigue, emotional support, neuroticism, agreeableness, and conscientiousness were independently and significantly associated with cognitive failure. Our results may help facilitate the development of effective strategies to prevent adverse effects on children's and parents' health by preventing cognitive failure among mothers. [ABSTRACT FROM AUTHOR]

The present study had two aims. First, we set out to evaluate the structure of processing speed in children by comparing five alternative models: two conceptual models (a unitary model, a complexity model) and three methodological models (a stimulus material model, an output response model, and a timing modality model). Second, we then used the resulting models to predict multiple types of reading, a highly important developmental outcome, using other well-known predictors as covariates. Participants were 844 children enrolled in third through fifth grade in urban public elementary schools who received 16 measures of processing speed that varied in the above dimensions. A two-factor complexity model that differentiated between simple and complex processing speed was the preferred model and fit the data well. Both types of PS predicted reading fluency, and complex (but not simple) PS predicted single word reading and comprehension. Results offer insight to the structure of processing speed, its relation to closely related concepts (such as executive function), and provide nuance to the understanding of the way processing speed influences reading. [ABSTRACT FROM AUTHOR]

Extranodal NK/T cell lymphomas (ENKTCLs) are aggressive Epstein–Barr virus-associated T/NK neoplasms that predominantly affect Asians. To explore the causative somatic events, we conducted a comprehensive genetic analysis of 19 ENKTCL patients by whole-genome (N = 2), whole-exome (N = 16), and targeted sequencing (N = 15). Commonly deregulated gene pathways in ENKTCLs included epigenetic modifiers (58%, 11/19) followed by human leukocyte antigens (HLAs) and related genes including HLA-A, B2M, TAP1, CD274, and PDCD1LG2 (32%, 6/19), and JAK-STAT pathway (26%, 5/19). Conspicuously, loss-of-function mutations in HLA-A were recurrently identified in ENKTCLs (16%, 3/19). HLA protein expression was examined by immunohistochemistry in 16 patients and lower expression was associated with advanced stages at presentation (p =.007). In conclusion, the defective antigen presenting pathway is common and related to disease progression, suggesting immune escape as a pathogenic mechanism of ENKTCLs. [ABSTRACT FROM AUTHOR]