jimnoneill/paper-to-field-training huggingface dataset:
GeneBreaker - Variant simulation to improve the diagnosis of Mendeleian rare genetic diseases

Field: Biochemistry, Genetics and Molecular Biology (Life Sciences)

This is the data repository for the manuscript titled: GeneBreaker - Variant simulation to improve the diagnosis of Mendelian rare genetic diseases. Phillip A. Richmond & Tamar V. Av-Shalom et al. Within this dataset there are: - Variant VCFs + indexes for background trios from the Polaris project (https://github.com/Illumina/Polaris). These were processed with BWAmem, Samtools, and DeepVariant (v0.10.0). - Simulated cases designed by the GeneBreaker Framework. - Case files, including a bundled set of case files, which correspond to cases on the GeneBreaker website. For more details, visit:
http://genebreaker.cmmt.ubc.ca
Phenotypic and functional characteristics of early thymic cells migrating to peripheral blood under normal conditions and in autoimmune disorders

Field: Immunology and Microbiology (Life Sciences)

Complex mechanisms of thymus functioning affect its structural matrix thus promoting gradual accumulation of genetic mutations, changes in gene expression and premature immunosenescence. The study of early thymic cell migrants (ETM) is necessary to identify possible diagnostic biomarkers and potential checkpoints of autoimmune diseases (AID). We have studied peripheral blood samples of patients with rheumatoid arthritis (RA), psoriatic arthritis (PsA), psoriasis (PS) and healthy donors. The aim of the study was to assess the ratio of recent cell migrants from the thymus and circulating naïve T regulatory cells in healthy persons and autoimmune diorders. The relative numbers of recent thymic migrants CD4+CD45RA+CD31+ (ETM), and the contents of FoxP3+T regulatory cells (Treg) in this population were determined by flow cytometry. The number of proliferating cells was determined by intracellular Ki-67 marker. The results show that the number of ETM was reduced in the group of patients with RA and patients with PsA compared with the healthy donor group (17.3%, 18.6% vs. 23.6%), and did not change significantly in patients with psoriasis. There were no significant differences between donors and patients with AIDs on the contents of proliferating ETM and Tregs. The proliferation rates of T regulatory cells in patients with psoriatic pathology were comparable to donor values, with a trend for its increase in RA patients. The numbers of proliferating naive FoxP3+Tregs in RA patients was significantly higher than the numbers of proliferating ETM (15.8% vs 3.1%, p 0.05, respectively). A decrease in relative number of ETM in AID may be associated with activation of T lymphocytes and higher proportion of central memory T cells. The number of Tregs among ETM, and their proliferation rates in patients with psoriatic disorder suggest the absence of disturbed Treg generation in thymus. The ambiguous results obtained in patients with RA are of potential significance for diagnostics and therapy. However, they require additional confirmation in a larger sample of patients.
Kaempferol‐3‐ O ‐rutinoside exerts cardioprotective effects through NF‐ κ B/NLRP3/Caspase‐1 pathway in ventricular remodeling after acute myocardial infarction

Field: Pharmacology, Toxicology and Pharmaceutics (Life Sciences)

Ventricular remodeling (VR) after acute myocardial infarction (AMI) is the main pathogenesis of chronic heart failure (CHF). Kaempferol-3-O-rutinoside (KR) is the flavonoid glycoside with the highest content in Lu'an GuaPian tea, which has good pharmacological activities. However, the mechanism of KR against VR after AMI remains unclear. Molecular docking was used to predict the targets of KR on the NLRP3/Caspase-1 signaling pathway. Histological changes in the myocardium were visualized using HE staining, Masson staining. Cardiomyocyte apoptosis was detected using TUNEL. Immunohistochemistry was used to examine NLRP3, Caspase-1 p20, and GSDMD. IL-1β level in serum was detected using ELISA. Finally, the expressions of NF-κB p65, NLRP3, ASC, Caspase-1 p20, GSDMD, and IL-1β were measured using RT-PCR and Western blotting. Our results showed that KR had a good binding activity with NLRP3, Caspase-1, and GSDMD, significantly improved cardiac function, alleviated cardiac pathological changes, reduced the excessive deposition of myocardial interstitial collagen, and inhibited cardiomyocyte apoptosis in AMI rats. Furthermore, KR could decrease the IL-1β level and inhibit the expressions of NF-κB p65, NLRP3, ASC, Caspase-1 p20, GSDMD, and IL-1β. Our study suggests that KR can prevent and treat VR after AMI, and the protective effect is related to its regulatory NF-κB/NLRP3/Caspase-1 signaling pathway. PRACTICAL APPLICATIONS: Kaempferol-3-O-rutinoside is present in Carthamus tinctorius L., Nymphaea candida, Afgekia mahidoliae and green tea, which has good pharmacological activities against liver injury, cerebral ischemia/reperfusion injury, dementia, hyperglycemia, and myocardial infarction. Our previous study found that kaempferol-3-O-rutinoside had an obvious anti-inflammatory effect, and could significantly improve the cell survival rate of H9c2 myocardium inflammatory injury induced by LPS. In this study, kaempferol-3-O-rutinoside significantly improved cardiac function, alleviated cardiac pathological changes, reduced the excessive deposition of myocardial interstitial collagen, and inhibited cardiomyocyte apoptosis in AMI rats. Furthermore, kaempferol-3-O-rutinoside could decrease the IL-1β level and inhibit the expressions of NF-κB p65, NLRP3, ASC, Caspase-1, GSDMD and IL-1β, suggesting that kaempferol-3-O-rutinoside could regulate NF-κB/NLRP3/Caspase-1 signaling pathway.
Multiple-stage ambiguity in motion perception reveals global computation of local motion directions

Field: Neuroscience (Life Sciences)

The motion of a 1D image feature, such as a line, seen through a small aperture, or the small receptive field of a neural motion sensor, is underconstrained, and it is not possible to derive the true motion direction from a single local measurement. This is referred to as the aperture problem. How the visual system solves the aperture problem is a fundamental question in visual motion research. In the estimation of motion vectors through integration of ambiguous local motion measurements at different positions, conventional theories assume that the object motion is a rigid translation, with motion signals sharing a common motion vector within the spatial region over which the aperture problem is solved. However, this strategy fails for global rotation. Here we show that the human visual system can estimate global rotation directly through spatial pooling of locally ambiguous measurements, without an intervening step that computes local motion vectors. We designed a novel ambiguous global flow stimulus, which is globally as well as locally ambiguous. The global ambiguity implies that the stimulus is simultaneously consistent with both a global rigid translation and an infinite number of global rigid rotations. By the standard view, the motion should always be seen as a global translation, but it appears to shift from translation to rotation as observers shift fixation. This finding indicates that the visual system can estimate local vectors using a global rotation constraint, and suggests that local motion ambiguity may not be resolved until consistencies with multiple global motion patterns are assessed.
Studies on constituent of edible fungi Part V. Structural examination of water-insoluble alkaline-soluble polysaccharides from fruit body of Lyophyllum ulmarium.

Field: Agricultural and Biological Sciences (Life Sciences)

熱水抽出後の残渣を,0.1M水酸化ナトリウム,次いで0.5M水酸化ナトリウムで抽出した.抽出物は除タンパク後,それぞれゲルろ過による分画・精製を行ない,0.1M水酸化ナトリウム抽出物からはP-4を,0.5M水酸化ナトリウム抽出物からはP-5を得た.P-4及びP-5については,ゲルろ過,及び電気泳動により単一性を確認した.それぞれの旋光度及び赤外吸収スペクトルからβ優位の結合であることが推察された.P-4の分子量は約105000, P-5は約90000であった.P-4の構成糖は,mannose, galactose, glucoseであり,そのモル比は1.0:1.8:4.2であり,P-5はglucanであった.P-4は過ヨウ素酸酸化及びスミス分解,メチル化分析,部分酸加水分解の結果,glucoseの(1→3)結合の直鎖をcoreとし,glucose及びgalactoseの(1→6)結合の分枝を持ち,galactoseの非還元末端はmannoseであることを推定した.また,P-5は過ヨウ素酸酸化,スミス分解,メチル化分析の結果,glucoseの(1→3)結合の直鎖をcoreとし,(1→6)結合の短い枝のある構造であることを推定した.
Myocardial infarction in rural and urban areas in Northern Sweden - A study of the MONICA-registry, 1989-2009 – differences in time to care, initial care giver, treatment and survival

Field: Medicine (Health Sciences)

Myocardial infarction in rural and urban areas in Northern Sweden - A study of the MONICA-registry, 1989-2009 – differences in time to care, initial care giver, treatment and survival
Reorganizing Strategies for the Case Management-based Public Delivery System to Meet Community Integrated Care

Field: Health Professions (Health Sciences)

지역사회 통합돌봄 도입으로 읍면동의 조직 개편이 일어나면서 읍면동의 핵심 기능이었던 통합사례관리도 변화가 나타날 것으로 예측된다. 이 연구에서는 늘어나는 사회적 돌봄 수요를 위해 지역사회 통합돌봄 정책이 구축되는 상황에서 그동안 저소득층 개입에 초점을 두었던 통합사례관리기반 공공전달체계가 어떻게 개선되어야 할 것인지를 탐색한다. 이를 위하여 현재 지역사회 통합돌봄 선도사업 지역에서 통합사례관리와 선도사업에 관련된 공공 및 민간 실무자를 대상으로 포커스그룹인터뷰(Focus Group Interview)를 실시하였다.
분석 결과, 모호한 대상자 구분 기준, 서비스 공유나 의뢰 절차 미흡, 정보시스템의 단절, 업무분장이나 간호직 인력 활용의 어려움 등이 발견되었고, 지역 나름의 극복 노력이 산발적으로 이루어졌음을 발견되었다. 이러한 연구 결과를 바탕으로 단일한 사정체계 마련, 서비스 공유와 의뢰 절차 설계, 정보공유시스템 구축, 인력 간 실제적 협업체계 구성, 조직적 차원에서 읍면동과 시군구의 역할 정립 등의 개선 방안을 제시하였다.
Self-Preferencing at Amazon: Evidence from Search Rankings

Field: Economics, Econometrics and Finance (Social Sciences)

We study whether Amazon engages in self-preferencing on its marketplace by favoring its own brands (e.g., Amazon Basics) in search. To address this question, we collect new micro-level consumer search data using a custom browser extension installed by a panel of study participants. Using this methodology, we observe search positions, search behavior, and product characteristics. We find that Amazon-branded products are indeed ranked higher than observably similar products in consumer search results. The prominence given to Amazon brands is 30 percent to 60 percent of the prominence granted to sponsored products.
Three-, Four-, and Five-Day Microcycles: The Normality in Professional Football

Field: Medicine (Health Sciences)

Purpose: This study aimed to quantify training and match-day (MD) load during 3-, 4-, and 5-day microcycles in professional adult football, as well as to analyze the effect of the microcycle length on training load produced the day after the match (MD + 1) and the day before the match (MD − 1). Methods: The study involved 20 male professional football players whose external and internal loads were monitored for a whole season. The training exposure, total distance covered, high-speed-running distance, sprint distance (SD), individual SD above 80% of the individual maximum velocity (D > 80%), and the number of accelerations and decelerations were quantified, as well as rating of perceived exertion and session rating of perceived exertion training load. Results: Microcycle length affected most of the variables of interest: high-speed-running distance ( F = 9.04, P < .01), SD ( F = 13.90, P < .01), D > 80% ( F = 20.25, P < .01), accelerations ( F = 10.12, P < .01), and decelerations ( F = 6.01, P < .01). There was an interaction effect between the training day and microcycle type for SD ( F = 5.46, P < .01), D > 80% ( F = 4.51, P < .01), accelerations ( F = 2.24, P = .06), and decelerations ( F = 3.91, P < .01). Conclusions: Coaches seem to be influenced by shorter microcycles in their training proposal, preferring sessions with a reduced muscle impact during shorter microcycles. Independent of the length of the congested fixture microcycle, the daily load seems to decrease when MD approaches.
ANGKA KEJADIAN BATU GINJAL DI RSUP PROF. DR. R. D. KANDOU MANADO PERIODE JANUARI 2010 – DESEMBER 2012

Field: Medicine (Health Sciences)

Abstract: Kidney stones or nephrolithiasis is condition where occures one or more stones in pelvis or calyces of kidney, this is the most problems in urinary tract. The cause of stones appeared wasn’t accurately known but this disease can be varies attack populations in the world depend on their ages, sex, clan, geography locations and developed levels of a country. Purpose: The research is aimed to know incidence ofkidney stones in RSUP Prof. Dr. R. D. KandouManado January 2010-December 2012 periods, to know distributions explain depends on sex, age groups, stones position, complications, and any handles. Method: This research used descriptive retrospective methode by collecting data in the Section of Surgery and Medical Record department of RSUP Prof. Dr. R. D. KandouManado. Conclusion: The result of the research has showed that incidence of kidney stones in January 2010 until December 2012 was highest in 2012 (48,6%) on 36-50 group of ages. The number of male patients was more common than female patients (3:2). Pyelum was location that always appeared the stones (85,7%), and hydronephrosis has most complications (68,6%). Patients always got pyelolithotomy for their handles (34,3%). Keywords : Incidence, kidney stones, Manado, nephrolithiasis Abstrak: Batu ginjal atau nefrolithiasis adalah suatu keadaan dimana terdapat satu atau lebih batu di dalam pelvisatau kaliksdari ginjal dan merupakan penyebab terbanyak kelainan di saluran kemih. Penyebab terbentuknya batu belum diketahui secara pasti, namun penyakit ini dapat menyerang penduduk di seluruh dunia dan bervariasi tergantung umur, jenis kelamin, ras, lokasi geografis dan tingkat kemajuan suatu bangsa. Tujuan: Penelitian ini bertujuan untuk mengetahui angka kejadian batu ginjal di RSUP Prof. Dr. R. D. Kandou Manado periode Januari 2010 - Desember 2012, serta mengetahui gambaran distribusi berdasarkan jenis kelamin, kelompok umur, letak batu, komplikasi, dan penanganan yang diberikan. Metode: Metode yang digunakan adalah metode deskriptif retrospektif, dengan mengumpulkan data di bagian Bedah dan bagian Rekam Medik RSUP Prof. Dr. R. D. Kandou Manado. Simpulan: Hasil penelitian menunjukkan bahwa angka kejadian batu ginjal selama periode Januari 2010 – Desember 2012 tertinggi pada tahun 2012 (48,6%) dan pada kelompok umur 36-50 tahun (48,6%). Jumlah pasien laki-laki lebih banyak ditemukan daripada perempuan (3:2). Sedangkan lokasi tersering ditemukannya batu adalah di pielum (85,7%), dan komplikasi terbanyak adalah hidronefrosis (68,6%). Penanganan yang paling sering diberikan pada pasien adalah pielolitotomi (34,3%). Kata kunci: Angka kejadian, batu ginjal, Manado, nefrolithiasis
The role of Mic60 in melanoma disease progression

Field: Biochemistry, Genetics and Molecular Biology (Life Sciences)

This study aimed to enhance understanding of Mic60’s role in cancer, particularly in melanoma. The primary objectives were to assess the impact on mitochondrial ultrastructure and function as well as on basic cellular traits and therapy sensitivity in primary and metastatic melanoma. TEM (transmission electron microscopy) and STED (stimulated emission depletion) microscopy revealed a severely disrupted inner mitochondrial organization, including mitochondrial network fragmentation and disturbed cristae biogenesis and structure. This deterioration was shown to impair mitochondrial ATP production and alter mitochondrial membrane potential in both examined cell lines. In primary melanoma (WM1366), Mic60 downregulation resulted in minor changes in mitochondrial Ca2+ uptake, cytosolic Ca2+ signaling, cell viability and clonogenic potential. However, concerning therapy sensitivity, the Mic60 downregulated cell lines of WM1366 displayed increased sensitivity against targeted therapy with MEK inhibitor Trametinib. In contrast, Mic60 absence in metastatic melanoma (WM3734a) had pronounced effects. In this matter mitochondrial Ca2+ as well as SOCE (store operated calcium entry) and ATP-induced Ca2+ uptake were found to be reduced. Furthermore, Mic60 downregulation diminished proliferation, cell viability and clonogenic potential in WM3734a Mic60kd cell lines. In terms of therapeutic sensitivity, the Mic60 knockdown evoked a declined susceptibility against NK cell mediated killing. Overall, our findings underscore Mic60's central role not only in cristae organization and inner mitochondrial membrane architecture but also in mitochondrial metabolism and ion signaling, proliferation and therapeutic sensitivity. Remarkably, Mic60 appears to be involved beyond intraorganellar processes in phenotype switching, interorganellar signaling and therapeutic sensitivity through its interaction partners in the outer mitochondrial membrane and altered mitochondrial signaling. This implies a role as central cog in mitochondrial reprogramming, cancer metabolism and signaling. However, this study only provides initial insights into Mic60’s role in cancer and raises several questions. Further research could shed light onto the mechanisms involved to understand how Mic60 influences these pathways and how Mic60 modulation in cancer serves mitochondrial reprogramming and disease progression.
Frequency of hand eczema in the elderly: Cross‐sectional findings from the German AugUR study

Field: Medicine (Health Sciences)

Abstract Background Hand eczema (HE) is a chronic inflammatory skin disease caused by a genetic predisposition and environmental exposures. There is a lack of population‐based studies on skin diseases in the elderly. Objectives Our aim was to estimate the frequency of HE in the elderly to determine its burden of disease in this particular population. Methods We analyzed data from the research platform AugUR, a study on chronic diseases in the elderly (n = 1133, ages 70‐95 years, mean age 77.6, 45.1% women). Raw frequencies were estimated using self‐reports on physician‐diagnosed HE from a standardized personal interview. Frequencies were standardized to the Bavarian population weighted by gender and 5‐year age‐groups. Results In our sample 2.7% (95% confidence interval [CI] 1.6‐4.3) of the paticipants reported to ever have been diagnosed with HE. Among those 57% were male. After standardization, the frequency was estimated at 2.8% (95% CI 1.9‐3.9). There were no differences between male and female participants. Conclusions Compared to other studies on lifetime frequency of HE, our estimates seem to be remarkably lower. More in‐depth studies with validated diagnoses are warranted to precisely estimate the burden of HE in the elderly.
Critical role of protein kinase D in VEGF‐induced vascular permeability and angiogenesis

Field: Medicine (Health Sciences)

Vascular endothelial growth factor (VEGF) is not only a powerful angiogenic factor but also a potent vascular permeability factor, which disrupts vascular barrier function in diseased tissues. In inflammatory and ischemia tissues, through impairing endothelial cell‐cell junctions VEGF causes vascular permeability and edema, resulting in extensive injury to ischemic tissues after stroke or myocardial infarction. In cancer, VEGF‐mediated disruption of the vascular barrier may potentiate tumour cell extravasation, resulting in widespread metastatic disease. All of these pathological conditions are also associated with increased angiogenesis. The OBJECTIVE of this study is to elucidate the signaling pathways whereby VEGF induces vascular permeability and angiogenesis. Emerging evidence from my group and others supports a crucial role of protein kinase D (PKD) in VEGF signaling and angiogenesis. PKD1 is a member of a novel family of serine/threonine protein kinases,which are potential druggable targets for therapeutics. My laboratory was the first to report that VEGF via its receptor 2 (VEGFR2) stimulated PKD1 activation in vascular ECs, which modulates EC proliferation. Subsequently, we found that PKD1, via phosphorylation of histone deacetylases, regulates EC migration and tube formation. Nascent observations from my group now reveal that PKD1, through its effects on cytoskeleton and adherens junction, regulates vascular permeability. Using Transwell EC permeability assay, we found that the inhibition of PKD1 by pharmacological inhibitors, PKD1 siRNA or adenoviral PKD1 dominant‐negative mutant significantly attenuated VEGF‐stimulated endothelial monolayer permeability. Using in vivo vascular permeability assays in mouse lung and ear microvascular beds, we found that EC‐specific knockout of PKD1 in mice greatly decreased VEGF‐induced vascular permeability. The inhibition of PKD1 by the pharmacological inhibitors also markedly diminished vascular permeability in mice. Mechanistically, we found that PKD1 mediated VEGF‐induced F‐actin stress fiber formation and the dismantlement of endothelial adherens junctions in ECs. In CONCLUSION , our results demonstrate a critical role of PKD1 in VEGF regulation of vascular permeability and angiogenesis. These findings would facilitate development of new therapeutic approaches to prevent or treat inflammation‐ and angiogenesis‐associated diseases.
Latin America's Neocaudillismo: Ex-Presidents and Newcomers Running for President … and Winning

Field: Social Sciences (Social Sciences)

Abstract Latin Americans have been voting for a surprisingly large number of ex-presidents and newcomers in presidential elections since the late 1980s. This article looks at both the demand and supply sides of this phenomenon by focusing on economic anxieties and party crises as the key independent variables. Sometimes the relationship between these variables is linear: economic anxieties combined with party crises lead to rising ex-presidents and newcomers. At other times the relationship is symbiotic: the rise of ex-presidents leads to party crises, economic and political anxieties, and thus the rise of newcomers. This article concludes that the abundance of ex-presidents and newcomers in elections—essentially, the new face of Latin America's caudillismo—does not bode well for democracy because it accelerates de-institutionalization and polarizes the electorate.
Values in mathematics classroom held by pre-service teachers

Field: Social Sciences (Social Sciences)

Views Icon Views Article contents Figures & tables Video Audio Supplementary Data Peer Review Share Icon Share Twitter Facebook Reddit LinkedIn Tools Icon Tools Reprints and Permissions Cite Icon Cite Search Site Citation Roselah Osman, Hamidah Ayub, Mohd Rijal Ilias, Zuraidar Badaruddin, Mira Izzati Che Mazhaimi; Values in mathematics classroom held by pre-service teachers. AIP Conf. Proc. 5 January 2024; 2905 (1): 040003. https://doi.org/10.1063/5.0171701 Download citation file: Ris (Zotero) Reference Manager EasyBib Bookends Mendeley Papers EndNote RefWorks BibTex toolbar search Search Dropdown Menu toolbar search search input Search input auto suggest filter your search All ContentAIP Publishing PortfolioAIP Conference Proceedings Search Advanced Search |Citation Search