733 results on '"TDT"'
Search Results
2. Generalization in perceptual learning across stimuli and tasks
- Author
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Ravit Kahalani-Hodedany, Maria Lev, Dov Sagi, and Uri Polat
- Subjects
Perceptual learning ,Texture discrimination ,TDT ,Backward masking ,Contrast detection ,Collinear facilitation ,Medicine ,Science - Abstract
Abstract Perceptual learning, known to improve visual perception, demonstrates the plasticity of brain processes underlying vision. Early studies, using the backward-masked texture discrimination task (TDT), focused on the lack of generalizing learning to stimulus features, relating learning specificity to the selectivity of the brain networks involved in the visual task. Learning was found to be highly specific to the stimulus features, as expected from the processing selectivity found in early visual areas as well as to the task employed in training, pointing to top-down effects. More recent studies demonstrate the generalization of learning to untrained features under specifically designed training procedures. Here we suggest that transfer of learning takes place when the trained and untrained stimuli and task activate overlapping brain processes. We tested the effect of TDT learning, under conditions with and without visual adaptation, on the contrast detection (CD) of localized Gabor targets, either alone or backward masked (BM). At the TDT peripheral-target location, we found that the transfer of learning between TDT to CD and BM occurs under the TDT adaptation condition, but not under the no-adaptation condition, whereas at the TDT center-target location we found that transfer occurs for both conditions. Our results suggest that learning generalization across experimental conditions depends on overlapping neural processes within brain networks, here dominated by the inhibitory effects involved in adaptation and in spatiotemporal masking. Importantly, increased adaptation during training, due to increased stimulus consistency, enabled the transfer of learning to other tasks limited by sensory adaptation.
- Published
- 2024
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- View/download PDF
3. Generalization in perceptual learning across stimuli and tasks.
- Author
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Kahalani-Hodedany, Ravit, Lev, Maria, Sagi, Dov, and Polat, Uri
- Subjects
PERCEPTUAL learning ,NEUROPLASTICITY ,LARGE-scale brain networks ,VISUAL perception ,TRANSFER of training ,STIMULUS generalization - Abstract
Perceptual learning, known to improve visual perception, demonstrates the plasticity of brain processes underlying vision. Early studies, using the backward-masked texture discrimination task (TDT), focused on the lack of generalizing learning to stimulus features, relating learning specificity to the selectivity of the brain networks involved in the visual task. Learning was found to be highly specific to the stimulus features, as expected from the processing selectivity found in early visual areas as well as to the task employed in training, pointing to top-down effects. More recent studies demonstrate the generalization of learning to untrained features under specifically designed training procedures. Here we suggest that transfer of learning takes place when the trained and untrained stimuli and task activate overlapping brain processes. We tested the effect of TDT learning, under conditions with and without visual adaptation, on the contrast detection (CD) of localized Gabor targets, either alone or backward masked (BM). At the TDT peripheral-target location, we found that the transfer of learning between TDT to CD and BM occurs under the TDT adaptation condition, but not under the no-adaptation condition, whereas at the TDT center-target location we found that transfer occurs for both conditions. Our results suggest that learning generalization across experimental conditions depends on overlapping neural processes within brain networks, here dominated by the inhibitory effects involved in adaptation and in spatiotemporal masking. Importantly, increased adaptation during training, due to increased stimulus consistency, enabled the transfer of learning to other tasks limited by sensory adaptation. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
4. Terminal deoxynucleotidyl transferase‐positive high‐grade B‐cell lymphoma with MYC and BCL2 rearrangements transformed from follicular lymphoma
- Author
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Radu Chiriac, Lucile Baseggio, and Marie Donzel
- Subjects
follicular lymphoma ,HGBCL ,TdT ,Diseases of the blood and blood-forming organs ,RC633-647.5 - Published
- 2024
- Full Text
- View/download PDF
5. Bone mineral density in a cohort of transfusion-dependent β-thalassemia (TDT) patients
- Author
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Nigar Omar and Rawand P. Shamoon
- Subjects
bmd ,tdt ,z-score ,osteoporosis ,Medicine - Abstract
Background and objective: β-Thalassemia is a common inherited disease in this region. A considerable number of transfusion-dependent β-thalassemia (TDT) patients suffer bone problems. The objective of this study was to evaluate bone mineral density in TDT patients using dual-energy X-ray absorptiometry (DEXA) scan. Methods: In this study, 53 TDT patients aged ≥10 years, together with 25 normal healthy individuals were enrolled. Their bone status was assessed using DEXA scan at lumber spine (L1-L4) and femoral neck. The effect of physical, biochemical, and hormonal characteristics on the bone mineral density (BMD) parameters were evaluated. BMD-Z score was used to assess the magnitude of bone disease. Results: The mean age of the patients was 21.3±7.8 years with male to female ratio 1.4:1. The values BMD parameters were significantly lower in the patients compared to the normal group. The mean values of BMD Z-core among the patients at lumber spine and femoral neck were -2.95±1.07 and -1.51±1.02 respectively. Among the patients, osteoporosis was detected in 69.8% and 13.2% in lumber spine and femoral neck respectively. None of the normal individuals had osteoporosis. Patients’ age. body mass index (BMI) and parathyroid hormone level had a significant association with BMD Z-score (P
- Published
- 2024
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6. Computational Modeling Study of the Molecular Basis of dNTP Selectivity in Human Terminal Deoxynucleotidyltransferase.
- Author
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Ukladov, Egor O., Tyugashev, Timofey E., and Kuznetsov, Nikita A.
- Subjects
- *
BASE pairs , *AMINO acid residues , *ENZYME kinetics , *SINGLE-stranded DNA , *OLIGONUCLEOTIDE synthesis - Abstract
Human terminal deoxynucleotidyl transferase (TdT) can catalyze template-independent DNA synthesis during the V(D)J recombination and DNA repair through nonhomologous end joining. The capacity for template-independent random addition of nucleotides to single-stranded DNA makes this polymerase useful in various molecular biological applications involving sequential stepwise synthesis of oligonucleotides using modified dNTP. Nonetheless, a serious limitation to the applications of this enzyme is strong selectivity of human TdT toward dNTPs in the order dGTP > dTTP ≈ dATP > dCTP. This study involved molecular dynamics to simulate a potential impact of amino acid substitutions on the enzyme's selectivity toward dNTPs. It was found that the formation of stable hydrogen bonds between a nitrogenous base and amino acid residues at positions 395 and 456 is crucial for the preferences for dNTPs. A set of single-substitution and double-substitution mutants at these positions was analyzed by molecular dynamics simulations. The data revealed two TdT mutants—containing either substitution D395N or substitutions D395N+E456N—that possess substantially equalized selectivity toward various dNTPs as compared to the wild-type enzyme. These results will enable rational design of TdT-like enzymes with equalized dNTP selectivity for biotechnological applications. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
7. Understanding the Intricacies of Iron Overload Associated with β-Thalassemia: A Comprehensive Review
- Author
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Subhangi Basu, Motiur Rahaman, Tuphan Kanti Dolai, Praphulla Chandra Shukla, and Nishant Chakravorty
- Subjects
β-thalassemia ,iron overload ,iron chelators ,TDT ,NTDT ,Diseases of the blood and blood-forming organs ,RC633-647.5 - Abstract
β-thalassemia, a congenital genetic hematological disorder characterized by the decrease or absence of β-globin chains, leads to a decrease in levels of Hemoglobin A. The affected individuals can be categorized into two cohorts based on transfusion dependency: transfusion-dependent thalassemia (TDT) and non-transfusion-dependent thalassemia (NTDT). Remarkably, despite the primary pathology lying in β-globin chain depletion, β-thalassemia also exhibits an intriguing association with iron overload. Iron metabolism, a tightly regulated physiological process, reveals a complex interplay in these patients. Over time, both cohorts of β-thalassemic individuals develop iron overload, albeit through distinct mechanisms. Addressing the diverse complications that arise due to iron overload in β-thalassemic patients, the utilization of iron chelators has gained a lot of significance. With varying efficacies, routes of administration, and modes of action, different iron chelators offer unique benefits to patients. In the Indian context, three commercialized iron chelators have emerged, showcasing a high adherence rate to iron chelator-based treatment regimens among β-thalassemic individuals. In this review, we explore the intriguing connection between β-thalassemia and iron overload, shedding light on the intricate mechanisms at play. We delve into the intricacies of iron metabolism, unveiling the distinct pathways leading to iron accumulation in these patients. Additionally, the therapeutic efficacy of different iron chelators in managing iron overload complications is mentioned briefly, along with the guidelines for their usage in India. Through this comprehensive analysis, we aim to deepen our understanding of β-thalassemia and iron overload, paving the way for optimized treatment strategies. Ultimately, our findings provide valuable insights into improving the care and outcomes of individuals affected by β-thalassemia.
- Published
- 2023
- Full Text
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8. Türk Devletleri Teşkilatı Üye Ülkeleri Arasında Türkiye’nin Rekabet Gücü / Competitiveness of Turkey Among Member States of the Organization of Turkic States
- Author
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Ali Rıza Sandalcılar and Kezban Ayran Cihan
- Subjects
organization of turkic states ,ots ,turkey ,rca ,sitc ,türk devletleri teşkilatı ,tdt ,türkiye ,akü ,Political science ,Economics as a science ,HB71-74 - Abstract
Çalışmanın amacı Türkiye’nin Türk Devletleri Teşkilatı (TDT) asıl üye ülkeleri ve gözlemci üye ülkeleri ile olan ticaretinde hangi mal gruplarında karşılaştırmalı üstünlüğe sahip olduğunu, hangi mal gruplarında ise karşılaştırmalı üstünlüğe sahip olmadığını analiz etmektir. 1995-2021 dönemine ait SITC Rev. 3 basamak 1 veri setinin kullanıldığı analizler Açıklanmış Karşılaştırmalı Üstünlükler (AKÜ) yaklaşımına göre yapılmıştır. Elde edilen bulgulara göre Türkiye Azerbaycan’a karşı 0, 1, 7 ve 8 numaralı mal gruplarında; Kazakistan’a karşı 1, 4, 5, 7 ve 8 mal gruplarında; Kırgızistan’a karşı 1, 3, 4, 5, 6, 7 ve 8 mal gruplarında; Özbekistan’a karşı 1, 4, 5, 7 ve 8 mal gruplarında; Türkmenistan’a karşı 0, 4, 7, 8 ve 9 mal gruplarında ve Macaristan’a karşı ise 1, 6 ve 8 mal gruplarında karşılaştırmalı üstünlüğe sahip olduğu tespit edilmiştir. Türkiye'nin diğer TDT üyesi ülkelerle olan dış ticaretinde karşılaştırmalı üstünlüklerinin genel olarak benzer bir yapıya sahip olduğu sonucuna ulaşılmıştır.
- Published
- 2023
- Full Text
- View/download PDF
9. Understanding the Intricacies of Iron Overload Associated with β-Thalassemia: A Comprehensive Review.
- Author
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Basu, Subhangi, Rahaman, Motiur, Dolai, Tuphan Kanti, Shukla, Praphulla Chandra, and Chakravorty, Nishant
- Subjects
IRON overload ,IRON chelates ,IRON metabolism ,BLOOD diseases ,GENETIC disorders - Abstract
β-thalassemia, a congenital genetic hematological disorder characterized by the decrease or absence of β-globin chains, leads to a decrease in levels of Hemoglobin A. The affected individuals can be categorized into two cohorts based on transfusion dependency: transfusion-dependent thalassemia (TDT) and non-transfusion-dependent thalassemia (NTDT). Remarkably, despite the primary pathology lying in β-globin chain depletion, β-thalassemia also exhibits an intriguing association with iron overload. Iron metabolism, a tightly regulated physiological process, reveals a complex interplay in these patients. Over time, both cohorts of β-thalassemic individuals develop iron overload, albeit through distinct mechanisms. Addressing the diverse complications that arise due to iron overload in β-thalassemic patients, the utilization of iron chelators has gained a lot of significance. With varying efficacies, routes of administration, and modes of action, different iron chelators offer unique benefits to patients. In the Indian context, three commercialized iron chelators have emerged, showcasing a high adherence rate to iron chelator-based treatment regimens among β-thalassemic individuals. In this review, we explore the intriguing connection between β-thalassemia and iron overload, shedding light on the intricate mechanisms at play. We delve into the intricacies of iron metabolism, unveiling the distinct pathways leading to iron accumulation in these patients. Additionally, the therapeutic efficacy of different iron chelators in managing iron overload complications is mentioned briefly, along with the guidelines for their usage in India. Through this comprehensive analysis, we aim to deepen our understanding of β-thalassemia and iron overload, paving the way for optimized treatment strategies. Ultimately, our findings provide valuable insights into improving the care and outcomes of individuals affected by β-thalassemia. [ABSTRACT FROM AUTHOR]
- Published
- 2023
- Full Text
- View/download PDF
10. Enhancing Terminal Deoxynucleotidyl Transferase Activity on Substrates with 3' Terminal Structures for Enzymatic De Novo DNA Synthesis.
- Author
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Barthel, Sebastian, Palluk, Sebastian, Hillson, Nathan J, Keasling, Jay D, and Arlow, Daniel H
- Subjects
DNA data storage ,TdT ,enzymatic DNA synthesis ,oligonucleotide synthesis ,polymerase cofactors ,secondary structures ,template-independent polymerase ,terminal deoxynucleotidyl transferase ,thermostability engineering ,Genetics - Abstract
Enzymatic oligonucleotide synthesis methods based on the template-independent polymerase terminal deoxynucleotidyl transferase (TdT) promise to enable the de novo synthesis of long oligonucleotides under mild, aqueous conditions. Intermediates with a 3' terminal structure (hairpins) will inevitably arise during synthesis, but TdT has poor activity on these structured substrates, limiting its usefulness for oligonucleotide synthesis. Here, we described two parallel efforts to improve the activity of TdT on hairpins: (1) optimization of the concentrations of the divalent cation cofactors and (2) engineering TdT for enhanced thermostability, enabling reactions at elevated temperatures. By combining both of these improvements, we obtained a ~10-fold increase in the elongation rate of a guanine-cytosine hairpin.
- Published
- 2020
11. PAX5 and TDT-Negative B-Acute Lymphoblastic Leukemia with Unusual Genetic Mutations: A Case Report
- Author
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Tariq N. Aladily, Jamil F. Qiqieh, Alaa Alshorman, Salem Alhyari, and Majd Khader
- Subjects
all ,b-all ,acute leukemia ,tdt ,pax5 ,immunohistochemistry ,flow cytometry ,dnmt3a ,flt3 ,Medicine - Abstract
B-acute lymphoblastic leukemia (B-ALL) is commonly encountered in clinical practice. Patients present with increased percentage of lymphoblasts in bone marrow and/or peripheral blood. Immunophenotypic study by flow cytometry or immunohistochemistry is essential to establish the diagnosis. Paired box-5 (PAX5) is a B cell lineage protein and terminal deoxynucleotidyl transferase (TDT) is an immature marker, both of which are routinely tested in the pathologic workup of acute leukemia. In this report, we describe a case of B-ALL in a 37-year-old woman in which both PAX5 and TDT were negative. Next-generation sequencing test detected mutations in DNA methyltransferase 3 α and Fms related receptor tyrosine kinase 3 genes, which are frequently mutated in acute myeloid leukemia rather than B-ALL. The constellation of these rare findings in a single case signifies the importance of examining a wide panel of markers when the diagnosis of ALL is suspected.
- Published
- 2022
- Full Text
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12. Genetic variants in genes involved in creatine biosynthesis in patients with severe obesity or anorexia nervosa.
- Author
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Rajcsanyi, Luisa S., Hoffmann, Anne, Ghosh, Adhideb, Matrisch-Dinkler, Birgit, Yiran Zheng, Peters, Triinu, Wenfei Sun, Hua Dong, Noé, Falko, Wolfrum, Christian, Herpertz-Dahlmann, Beate, Seitz, Jochen, de Zwaan, Martina, Herzog, Wolfgang, Ehrlich, Stefan, Zipfel, Stephan, Giel, Katrin, Egberts, Karin, Burghardt, Roland, and Föcker, Manuel
- Subjects
GENETIC variation ,ANOREXIA nervosa ,BROWN adipose tissue ,ABDOMINAL adipose tissue ,ADOLESCENCE ,BIOSYNTHESIS ,BODY mass index - Abstract
Increased thermogenesis in brown adipose tissue might have an obesity-reducing effect in humans. In transgenic mice, depletion of genes involved in creatine metabolism results in disrupted thermogenic capacity and altered effects of highfat feeding on body weight. Data analyses of a sex-stratified genome-wide association study (GWAS) for body mass index (BMI) within the genomic regions of genes of this pathway (CKB, CKMT1B, and GATM) revealed one sexdimorphic BMI-associated SNP in CKB (rs1136165). The effect size was larger in females than in males. A mutation screen of the coding regions of these three candidate genes in a screening group (192 children and adolescents with severe obesity, 192 female patients with anorexia nervosa, and 192 healthy-lean controls) identified five variants in each, CKB and GATM, and nine variants in the codingsequence of CKMT1B. Non-synonymous variants identified in CKB and CKMT1B were genotyped in an independent confirmation study group (781 families with severe obesity (trios), 320 children and adolescents with severe obesity, and 253 healthy-lean controls). In silico tools predicted mainly benign yet proteindestabilizing potentials. A transmission disequilibrium test in trios with severe obesity indicated an obesity-protective effect of the infrequent allele at rs149544188 located in CKMT1B. Subsequent correlation analyses in 1,479 individuals of the Leipzig Obesity BioBank revealed distinct correlations of CKB with the other two genes in omental visceral adipose tissue (VAT) and abdominal subcutaneous adipose tissue (SAT). Furthermore, between-subject comparisons of gene expression levels showed generally higher expressions of all three genes of interest in VAT than in SAT. Future in vitro analyses are needed to assess the functional implications of these findings. [ABSTRACT FROM AUTHOR]
- Published
- 2023
- Full Text
- View/download PDF
13. Genetic variants in genes involved in creatine biosynthesis in patients with severe obesity or anorexia nervosa
- Author
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Luisa S. Rajcsanyi, Anne Hoffmann, Adhideb Ghosh, Birgit Matrisch-Dinkler, Yiran Zheng, Triinu Peters, Wenfei Sun, Hua Dong, Falko Noé, Christian Wolfrum, Beate Herpertz-Dahlmann, Jochen Seitz, Martina de Zwaan, Wolfgang Herzog, Stefan Ehrlich, Stephan Zipfel, Katrin Giel, Karin Egberts, Roland Burghardt, Manuel Föcker, Linus T. Tsai, Timo D. Müller, Matthias Blüher, Johannes Hebebrand, Raphael Hirtz, and Anke Hinney
- Subjects
GWAS ,creatine metabolism ,in silico ,BAT ,TDT ,Genetics ,QH426-470 - Abstract
Increased thermogenesis in brown adipose tissue might have an obesity-reducing effect in humans. In transgenic mice, depletion of genes involved in creatine metabolism results in disrupted thermogenic capacity and altered effects of high-fat feeding on body weight. Data analyses of a sex-stratified genome-wide association study (GWAS) for body mass index (BMI) within the genomic regions of genes of this pathway (CKB, CKMT1B, and GATM) revealed one sex-dimorphic BMI-associated SNP in CKB (rs1136165). The effect size was larger in females than in males. A mutation screen of the coding regions of these three candidate genes in a screening group (192 children and adolescents with severe obesity, 192 female patients with anorexia nervosa, and 192 healthy-lean controls) identified five variants in each, CKB and GATM, and nine variants in the coding sequence of CKMT1B. Non-synonymous variants identified in CKB and CKMT1B were genotyped in an independent confirmation study group (781 families with severe obesity (trios), 320 children and adolescents with severe obesity, and 253 healthy-lean controls). In silico tools predicted mainly benign yet protein-destabilizing potentials. A transmission disequilibrium test in trios with severe obesity indicated an obesity-protective effect of the infrequent allele at rs149544188 located in CKMT1B. Subsequent correlation analyses in 1,479 individuals of the Leipzig Obesity BioBank revealed distinct correlations of CKB with the other two genes in omental visceral adipose tissue (VAT) and abdominal subcutaneous adipose tissue (SAT). Furthermore, between-subject comparisons of gene expression levels showed generally higher expressions of all three genes of interest in VAT than in SAT. Future in vitro analyses are needed to assess the functional implications of these findings.
- Published
- 2023
- Full Text
- View/download PDF
14. Terminal Deoxynucleotidyl Transferase Is Not Required for Antibody Response to Polysaccharide Vaccines against Streptococcus pneumoniae and Salmonella enterica Serovar Typhi.
- Author
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Belde, Vivek, Cravens, Matthew, Gulandijany, Dania, Walker, Justin, Palomo-Caturla, Isabel, Alugupalli, Akhil, Sandilya, Vijay, Mahmoud, Tamer, Bäumler, Andreas, Kearney, John, and Alugupalli, Kishore
- Subjects
Pneumococcus ,Salmonella ,TdT ,antibodies ,antibody repertoire ,polysaccharide vaccine ,polysaccharides ,vaccines ,Age Factors ,Animals ,Antibodies ,Bacterial ,Antigens ,Bacterial ,Bacterial Load ,DNA Nucleotidylexotransferase ,Immunization ,Passive ,Immunoglobulin G ,Mice ,Mice ,Inbred BALB C ,Mice ,Knockout ,Pneumococcal Vaccines ,Polysaccharides ,Bacterial ,Receptors ,Antigen ,B-Cell ,Salmonella typhi ,Serum Bactericidal Antibody Assay ,Streptococcus pneumoniae ,Typhoid-Paratyphoid Vaccines ,Vaccination - Abstract
B cell antigen receptor (BCR) diversity increases by several orders of magnitude due to the action of terminal deoxynucleotidyl transferase (TdT) during V(D)J recombination. Unlike adults, infants have limited BCR diversity, in part due to reduced expression of TdT. Since human infants and young mice respond poorly to polysaccharide vaccines, such as the pneumococcal polysaccharide vaccine Pneumovax23 and Vi polysaccharide (ViPS) of Salmonella enterica serovar Typhi, we tested the contribution of TdT-mediated BCR diversity in response to these vaccines. We found that TdT+/- and TdT-/- mice generated comparable antibody responses to Pneumovax23 and survived Streptococcus pneumoniae challenge. Moreover, passive immunization of B cell-deficient mice with serum from Pneumovax23-immunized TdT+/- or TdT-/- mice conferred protection. TdT+/- and TdT-/- mice generated comparable levels of anti-ViPS antibodies and antibody-dependent, complement-mediated bactericidal activity against S Typhi in vitro To test the protective immunity conferred by ViPS immunization in vivo, TdT+/- and TdT-/- mice were challenged with a chimeric Salmonella enterica serovar Typhimurium strain expressing ViPS, since mice are nonpermissive hosts for S Typhi infection. Compared to their unimmunized counterparts, immunized TdT+/- and TdT-/- mice challenged with ViPS-expressing S Typhimurium exhibited a significant reduction in the bacterial burden and liver pathology. These data suggest that the impaired antibody response to the Pneumovax23 and ViPS vaccines in the young is not due to limited TdT-mediated BCR diversification.
- Published
- 2018
15. Türk Devletleri Teşkilatı Üye Ülkeleri Arasında Türkiye'nin Rekabet Gücü.
- Author
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Sandalcılar, Ali Rıza and Cihan, Kezban Ayran
- Abstract
Copyright of International Journal of Economics, Business & Politics (UEIP) is the property of International Journal of Economics, Business & Politics 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.)
- Published
- 2023
- Full Text
- View/download PDF
16. The Transactional Distance Theory and Distance Learning Contexts: Theory Integration, Research Gaps, and Future Agenda.
- Author
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Abuhassna, Hassan and Alnawajha, Samer
- Subjects
EVIDENCE gaps ,DISTANCE education ,CLASSROOM environment ,QUANTITATIVE research ,ONLINE education ,ACADEMIC motivation - Abstract
Moore established transactional distance theory (TDT) to grasp transactional distance in the context of distance learning. Research using TDT in distance, open, and online learning environments has been undertaken. However, there are information gaps about what constitutes progress, future directions, and research deficits pertaining to TDT in the context of distance education. This systematic literature review (SLR) used PRISMA to analyze 42 papers to close the knowledge gap. Currently, TDT research in distance learning integrates various theories and models; nevertheless, there is a movement toward acceptance models and how to incorporate more relevant theories within the framework of distance learning. Future studies should integrate other aspects such as student motivation, student acceptance of technology, and student preparedness and desire to utilize technology in learning environments. As most research samples students, a research gap involving instructors and heterogeneous groups is proposed. It is projected that quantitative research will predominate in the future, leaving qualitative and mixed approaches as areas of investigation. This review illuminates the developments, future agenda, and research needs pertaining to TDT in the context of distance learning. It might serve as a foundation for future study on TDT in the context of distance, open, and online education. [ABSTRACT FROM AUTHOR]
- Published
- 2023
- Full Text
- View/download PDF
17. Primary cutaneous B‐Cell lymphoblastic lymphoma presenting with solitary scalp mass in a female child: A case report and review of the literature.
- Author
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Montazer, Fatemeh, Motlagh, Alireza Sanei, and Dastgir, Ramtin
- Subjects
- *
LYMPHOMAS , *SCALP , *B cell lymphoma , *BONE marrow , *GONADAL dysgenesis ,GONADAL diseases - Abstract
Lymphoblastic lymphoma is a group of non‐Hodgkin lymphomas that account for approximately 2% of all lymphomas. This is a report of a case of a young girl presenting with a solitary scalp mass which was resected. Histopathological examination of the mass along with bone marrow analysis revealed primary cutaneous B‐cell lymphoblastic lymphoma. A nine‐year‐old girl presenting with an asymptomatic erythematous, non‐tender scalp mass present for 12 months was admitted. Skull and brain were intact and devoid of any pathological findings on computed tomography imaging. Systemic examination also showed no evidence of mass lesion in other parts of the body. The lesion was resected and referred for pathological analysis. Microscopic study revealed heavy diffuse dermal and subcutaneous infiltration of monomorphous medium‐sized mononuclear cells, with fine chromatin, scant cytoplasm, and variable nucleoli along with intact epidermis and presence of grenz zone. Tumor cells dissect through the collagen fibers. Extensive mitotic figures and focal infiltration of the skin adnexa are seen. IHC study revealed that TdT, CD79a, CD99, CD45, CD20, and Ki67 markers were positive. According to these findings, a definitive diagnosis of primary cutaneous lymphoblastic lymphoma of B cell type was concluded. The 1‐year follow up after necessary treatment revealed normal findings without traces of recurrence. Lymphoblastic lymphomas (LBL) are a neoplasm of immature B cells belonging to the B‐(B‐LBL) or T‐cell lineage (T‐LBL) that accounts for approximately 2% of all lymphomas. Lymphoblastic lymphoma (LBL) is similar to acute lymphoblastic leukemia (ALL) and the differentiation between these neoplasms is based upon proportion of involvement of lymphoblasts in bone marrow. It has a higher male to female predominance, higher incidence in older children and younger adults, and a relatively higher frequency of CNS and gonadal involvement. The differential diagnosis is based on immunohistochemistry study of B‐cell linage tumor markers. Cutaneous involvement is present in about one third of patients with B‐LBL but rarely in patients with ALL. [ABSTRACT FROM AUTHOR]
- Published
- 2022
- Full Text
- View/download PDF
18. The fluorescent aptasensor based on CRISPR-Cas12a combined with TdT for highly sensitive detection of cocaine.
- Author
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Feng, Tao, Liu, Jingjian, Chen, Gong, Wu, Lun, Ren, Fangling, Yang, Yang, Zhu, Jing, Shen, Feng, Wang, Linhai, and Chen, Qinhua
- Subjects
- *
CRISPRS , *COCAINE abuse , *COCAINE , *MAGNETIC nanoparticles , *DETECTION limit - Abstract
Ultrasensitive and specific detection of cocaine is of great significance for monitoring cocaine abuse. Herein, a fluorescent aptasensor via coupling CRISPR-Cas12a, with magnetic nanoparticles (MNPs), split-aptamer, and terminal deoxynucleotidyl transferase (TdT), was developed for the detection of cocaine. In short, the complete cocaine aptamer is split into two parts, one is modified on magnetic nanoparticles (MNPs) and the other is free. The presence of cocaine will mediate the binding of these two segments. Then TdT will mediate the extension to form an ultra-long sequence that can bind with multiple CRISPR-Cas12a resulting in the trans-cleavage activity of CRISPR-Cas12a being triggered. Thence, the DNA reporter which is bi-labeled with fluorophore and quencher is cleaved resulting in the generation of a fluorescence signal. The developed fluorescent aptasensor realizes the detection of cocaine with excellent sensitivity and specificity. The detection limit is low down to 33 pM, and the linear range is from 330 to 1.65 × 105 pM. Most importantly, this fluorescent aptasensor can be successfully applied to the determination of cocaine in human plasma samples. [ABSTRACT FROM AUTHOR]
- Published
- 2022
- Full Text
- View/download PDF
19. Cutis verticis gyrata in a 24‐year‐old young man revealing a T‐cell lymphoblastic lymphoma.
- Author
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Saad, Sarra, Fetoui, Nadia Ghariani, Rouatbi, Jacem, Mokni, Sana, Ghariani, Najet, Sriha, Baderedine, and Denguezli, Mohamed
- Subjects
- *
T-cell lymphoma , *YOUNG men , *BONE marrow , *LYMPHADENITIS ,MEDIASTINAL tumors - Abstract
T‐cell lymphoblastic lymphoma (T‐LBL) is frequently revealed by amediastinal mass or peripheral lymphadenopathy. Skin lesions in T‐LBLusually present as multiple nodules associated with multiple peripherallymphadenopathy and bone marrow invasion. Our patient is particular bythe revealing presentation of the lesions as Cutis verticis gyrate. T‐cell lymphoblastic lymphoma (T‐LBL) is frequently revealed by a mediastinal mass or peripheral lymphadenopathy. Skin lesions in T‐LBL usually present as multiple nodules associated with multiple peripheral lymphadenopathy and bone marrow invasion. [ABSTRACT FROM AUTHOR]
- Published
- 2022
- Full Text
- View/download PDF
20. The impact of magnetic resonance imaging in the assessment of iron overload in heart and liver in transfusion-dependent thalassemic children: Minia experience
- Author
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Ashraf M. El Sherif, Ahmed S. Ibrahim, Mohamed A. Elsayed, Ahmed S. Abdelhakim, and Ahlam M. Ismail
- Subjects
TDT ,MRI T2* ,Iron overload ,Liver ,Heart ,Children ,Medical physics. Medical radiology. Nuclear medicine ,R895-920 - Abstract
Abstract Background Thalassemia is the most prevalent single-gene disorder. Myocardial and hepatic iron depositions lead to complications and eventually death. We aimed to assess the diagnostic efficacy of magnetic resonance imaging T2* (MRI T2*) in quantifying iron overload in liver and heart in transfusion-dependent B-thalassemia major (TDT) children. Methods Prospective clinical study was carried on sixty children diagnosed with TDT. All of them underwent laboratory investigations, including CBC, serum iron, and ferritin levels. MRI T2* of the heart and liver was carried out to measure the iron overload and estimate the left ventricular ejection fraction (LVEF). Results Thirty-eight males and 22 females with TDT with a mean age of 13.23 years were included. Twenty cases (33.3%) had severe liver iron overload, while 36 (60%) had normal cardiac iron. There was a moderate significant negative association between hepatic and cardiac iron deposition (P = 0.03). All cases with severe cardiac iron overload had impaired LVEF below 56%. A non-significant positive association was noticed between cardiac iron deposition and LVEF in T2* (P = 0.08). A moderate negative significant association was detected between hepatic iron deposition and serum ferritin, while a fair negative significant association was found between serum ferritin and cardiac iron deposition with P values of 0.04 and 0.02, respectively. Conclusion MRI T2* is the gold standard for monitoring and follow-up of iron overload in the heart and liver. It should be routinely performed in all TDT children as liver iron, and serum ferritin do not reflect cardiac iron overload.
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- 2021
- Full Text
- View/download PDF
21. Topic Detection and Tracking Based on Windowed DBSCAN and Parallel KNN
- Author
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Chuanzhen Li, Minqiao Liu, Juanjuan Cai, Yang Yu, and Hui Wang
- Subjects
Big data ,DBSCAN ,parallelized ,TDT ,Electrical engineering. Electronics. Nuclear engineering ,TK1-9971 - Abstract
Topic Detection and Tracking technique (TDT) has been commonly used to identify the hot topics from the huge volume of Internet news information and keep up with the hot news. However, traditional topic detection and tracking methods have shown low accuracy and low efficiency. In this paper, a topic detection system driven by big data is built on the Spark platform, which aims at improving the efficiency of news collecting from the Internet and improving the accuracy and efficiency of topic detection and tracking tasks. This system can be easily employed in a distributed architecture and work as a parallelized news collecting and topic detection system. An improved density-based spatial clustering of application with noise (DBSCAN) clustering algorithm based on the time window is proposed to achieve accurate topic detection with the auxiliary advantage of reducing the time complexity. A parallel KNN based topic tracking algorithm is proposed for the topic tracking task. Experiments including comparison with some baseline algorithms and quantitative and qualitative analyses are conducted on pseudo-distributed Spark platform, which demonstrates the effectiveness and efficiency of the parallelized topic detection system.
- Published
- 2021
- Full Text
- View/download PDF
22. Terminal Deoxynucleotidyl Transferase Commonly Expresses in Germ Cell Tumors: Evaluation on a Large Series from Multiple Centers
- Author
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Zhou J, Wang S, Zhu L, Zhou L, Zeng H, Gan Y, and Wang C
- Subjects
germ cell tumors ,immunohistochemistry ,tdt ,pathological diagnosis ,Medicine (General) ,R5-920 - Abstract
Jun Zhou,1,* Suying Wang,2,* Lun Zhu,3 Luting Zhou,1 Hong Zeng,4 Yongli Gan,2 Chaofu Wang1 1Department of Pathology, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, People’s Republic of China; 2Department of Pathology, Ningbo Clinical and Pathological Diagnostic Center, Ningbo, Zhejiang, People’s Republic of China; 3Department of Pathology, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, People’s Republic of China; 4Department of Pathology, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, Guangdong, People’s Republic of China*These authors contributed equally to this workCorrespondence: Chaofu WangDepartment of Pathology, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, 2st Ruijin Road, Huangpu District, Shanghai, People’s Republic of ChinaEmail wangchaofu@126.comAim: The concrete features of expression of terminal deoxynucleotidyl transferase (TdT) are needed to be revealed in male and female germ cell tumors (GCTs).Methods: TdT immunostaining was performed in 195 GCTs, and the tumor and/or tumorous components included seminomas, germ cell neoplasias in situ (GCNISs), dysgerminomas, embryonal carcinomas (ECs), extragonadal germinomas, yolk sac tumors (YSTs), teratomas, and spermatocytic tumors. Twenty-one sex cord-stromal tumors were also added. Expression of the classical germ cell tumor markers (PLAP, OCT4, SALL4, CD117, and D2-40) was compared to that of TDT.Results: Nearly all (tumors or tumorous components) seminomas (99%, 107/108), GCNISs (98%, 51/52), dysgerminomas (94%, 17/18), ECs (100%, 15/15), and extragonadal germinomas (100%, 11/11) were positive for TdT. None of the cells in YSTs (0/38), teratomas (0/19), spermatocytic tumors (0/1), or sex cord-stromal tumors (0/21) were immunoreactive for TdT staining. The normal testicular and ovarian gonadal tissues were also negative for TdT. However, TdT presented with significant loss of antigen immunoreactivity in the paraffin-embedded tissues older than 3 years, giving rise to weak or moderate staining in a subset of cases. The expressions of TdT showed no significances with PLAP, OCT4, SALL4, CD117, and D2-40 during the diagnosis of the most GCTs (P> 0.05), except for with PLAP, SALL4, or CD117 in YST (P= 0.000 each), and D117 (P= 0.000) or D2-40 (P= 0.006) in ECs.Conclusion: Our findings further verify that TdT can serve as a new GCT marker for seminomas, GCNISs, dysgerminomas, ECs, and extragonadal germinomas, with a highly positive rate. Awareness of TdT positivity in GCTs contributes to the prevention of erroneous diagnoses, particularly in the setting of core needle biopsies. To determine the properties where TdT staining may not be apparent in some old archived paraffin-embedded tissues, one could circumvent the potential misinterpretations of false-negative immunohistochemistry results.Keywords: germ cell tumors, immunohistochemistry, TdT, pathological diagnosis
- Published
- 2021
23. Transformation of a low-grade follicular lymphoma into a composite lymphoma combining a high-grade B-cell lymphoma and a lymphoblastic neoplasm expressing Terminal deoxynucleotidyl Transferase: a case report
- Author
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Antonin Bouroumeau, Eleonore Kaphan, Clémentine Legrand, Tatiana Raskovalova, Gautier Szymanski, Claire Vettier, Christine Lefebvre, Marie-Christine Jacob, Anne McLeer, Michel Peuchmaur, Rémy Gressin, and Hervé Sartelet
- Subjects
Follicular lymphoma ,High-grade B-cell lymphoma ,TdT ,Lymphoblastic neoplasm ,Medicine - Abstract
Abstract Background High-grade B-cell lymphoma with rearrangements of MYC and BCL2 and/or BCL6 is an aggressive mature B-cell neoplasm, whereas B-lymphoblastic lymphoma is immature cell proliferation, with a frequent positivity for terminal deoxynucleotidyl transferase. The transformation of a low-grade follicular lymphoma into a lymphoblastic neoplasm expressing terminal deoxynucleotidyl transferase is a very rare event. Case presentation A 55-year-old Caucasian man was followed for a grade 1–2 follicular lymphoma carrying a t(14;18) IGH/BCL2+ and was initially treated with R-CHOP. The follicular lymphoma presented two relapses. In the third relapse, the patient had multiple lymphadenopathy and ascites, which motivated a retroperitoneal biopsy and an ascitic tap. These samples were analyzed by histological, cytological, flow cytometric, cytogenetic, and molecular assessments. The patient died of a multiple organ dysfunction syndrome 2 weeks after his third relapse. The biopsy revealed a diffuse proliferation made up of two types of tumor cells: centroblasts (Bcl-6-positive) and immature cells (terminal deoxynucleotidyl transferase-positive). Flow cytometric analysis confirmed the immature phenotype, with an expression of terminal deoxynucleotidyl transferase, combined with a loss of membrane immunoglobulins. The cytogenetic analysis performed on the ascites revealed a clonal evolution characterized by a t(8;22)(q24;q11) MYC+ translocation not previously detected in follicular lymphoma. Fluorescence in situ hybridization confirmed the double rearrangement of the BCL2 and MYC genes. Polymerase chain reactions and sequencing were used to study the clonal relationship between follicular lymphoma and the secondary tumors. The IGVH gene rearrangement revealed a unique clonal rearrangement involving an IGVH4–59 subset in all three specimens. Conclusion These findings suggest a clonal relationship between the two types of lymphoma cells. Furthermore, they support the transformation of an acute follicular lymphoma into a composite lymphoma combining a high-grade B-cell lymphoma and a lymphoblastic neoplasm expressing terminal deoxynucleotidyl transferase. This case report highlights the possible transformation of follicular lymphoma into a highly aggressive and immature proliferation.
- Published
- 2020
- Full Text
- View/download PDF
24. Leukocyte telomere length in patients with transfusion-dependent thalassemia
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Nithita Nanthatanti, Adisak Tantiworawit, Pokpong Piriyakhuntorn, Thanawat Rattanathammethee, Sasinee Hantrakool, Chatree Chai-Adisaksopha, Ekarat Rattarittamrong, Lalita Norasetthada, Wirote Tuntiwechapikul, Kanda Fanhchaksai, Pimlak Charoenkwan, Sirinart Kumfu, and Nipon Chattipakorn
- Subjects
Iron overload ,Oxidative stress ,TDT ,Telomere ,Transfusion dependent thalassemia ,Internal medicine ,RC31-1245 ,Genetics ,QH426-470 - Abstract
Abstract Background Thalassemia is a hereditary hemolytic anemia with a severity ranging from mild, non-transfusion dependent to severe chronic anemia requiring lifelong transfusion. Transfusional iron overload is a major complication in patients with transfusion-dependent thalassemia (TDT). Telomeres are sequences of nucleotides forming the end caps of chromosomes that act as a DNA repair system. Iron overload in thalassemia can cause increased oxidative stress which leads to cellular damage and senescence. This may result in telomere length shortening. The degree of telomere length shortening may reflect the severity of thalassemia. Methods This research aimed to study the leukocyte telomere length in patients with TDT in comparison to non-thalassemic individuals and to identify the clinical and laboratory parameters that are associated with telomere length. We conducted a cross-sectional study in patients with TDT aged ≥18 years. Leukocyte telomere length was measured by real-time quantitative PCR. Results Sixty-five patients with TDT were enrolled onto the study. There were 37 female patients (54.4%). The median age was 27 (18–57) years, and mean pre-transfusion hemoglobin level was 7.1 (± 1.07) g/dL. The mean telomere to single copy gene (T/S) ratios of patients with TDT and the controls were 0.72 ± 0.18 and 0.99 ± 0.25, respectively (p
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- 2020
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- View/download PDF
25. Understanding EFL Teacher Engagement in TDTs’ Collaborative Curriculum Design: A Chinese Case Study From the Activity Theory Perspective
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Zhonghua Wu, Jian Li, and Le Cheng
- Subjects
teacher engagement ,collaborative curriculum design ,activity theory ,case study ,EFL ,TDT ,Psychology ,BF1-990 - Abstract
While collaborative curriculum design (CCD) has gained increasing attention in the field of education, there is scant research as to how EFL teachers implement it in authentic design contexts. The present case study places particular emphasis on teacher activities during collaborative EFL curriculum development in China. The researchers adopt Activity Theory as an analytical tool to understand the relationships between EFL teachers, reform goals, and various aspects of the sociocultural context in which CCD is advocated, highlighting the pivotal role that mediation of knowledge/experience plays in the teacher learning community. Research findings indicate that the TDTs’ collaborative process is a socially constructed and culturally mediated activity that promotes EFL teacher development. Moreover, in-service teachers are prone to take challenges through educational reforms out of teacher motives and external stimuli. Limitations of the CCD model are also discussed to shed light on future research.
- Published
- 2022
- Full Text
- View/download PDF
26. Combining genotypes and T cell receptor distributions to infer genetic loci determining V(D)J recombination probabilities
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Magdalena L Russell, Aisha Souquette, David M Levine, Stefan A Schattgen, E Kaitlynn Allen, Guillermina Kuan, Noah Simon, Angel Balmaseda, Aubree Gordon, Paul G Thomas, Frederick A Matsen IV, and Philip Bradley
- Subjects
t cell receptor repertoire ,VDJ recombination probabilities ,GWAS ,Artemis ,TdT ,Medicine ,Science ,Biology (General) ,QH301-705.5 - Abstract
Every T cell receptor (TCR) repertoire is shaped by a complex probabilistic tangle of genetically determined biases and immune exposures. T cells combine a random V(D)J recombination process with a selection process to generate highly diverse and functional TCRs. The extent to which an individual’s genetic background is associated with their resulting TCR repertoire diversity has yet to be fully explored. Using a previously published repertoire sequencing dataset paired with high-resolution genome-wide genotyping from a large human cohort, we infer specific genetic loci associated with V(D)J recombination probabilities using genome-wide association inference. We show that V(D)J gene usage profiles are associated with variation in the TCRB locus and, specifically for the functional TCR repertoire, variation in the major histocompatibility complex locus. Further, we identify specific variations in the genes encoding the Artemis protein and the TdT protein to be associated with biasing junctional nucleotide deletion and N-insertion, respectively. These results refine our understanding of genetically-determined TCR repertoire biases by confirming and extending previous studies on the genetic determinants of V(D)J gene usage and providing the first examples of trans genetic variants which are associated with modifying junctional diversity. Together, these insights lay the groundwork for further explorations into how immune responses vary between individuals.
- Published
- 2022
- Full Text
- View/download PDF
27. Understanding EFL Teacher Engagement in TDTs' Collaborative Curriculum Design: A Chinese Case Study From the Activity Theory Perspective.
- Author
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Wu, Zhonghua, Li, Jian, and Cheng, Le
- Subjects
CURRICULUM planning ,TEACHER development ,SOCIOCULTURAL theory ,ENGLISH as a foreign language ,TEACHERS - Abstract
While collaborative curriculum design (CCD) has gained increasing attention in the field of education, there is scant research as to how EFL teachers implement it in authentic design contexts. The present case study places particular emphasis on teacher activities during collaborative EFL curriculum development in China. The researchers adopt Activity Theory as an analytical tool to understand the relationships between EFL teachers, reform goals, and various aspects of the sociocultural context in which CCD is advocated, highlighting the pivotal role that mediation of knowledge/experience plays in the teacher learning community. Research findings indicate that the TDTs' collaborative process is a socially constructed and culturally mediated activity that promotes EFL teacher development. Moreover, in-service teachers are prone to take challenges through educational reforms out of teacher motives and external stimuli. Limitations of the CCD model are also discussed to shed light on future research. [ABSTRACT FROM AUTHOR]
- Published
- 2022
- Full Text
- View/download PDF
28. The Transactional Distance Theory and Distance Learning Contexts: Theory Integration, Research Gaps, and Future Agenda
- Author
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Hassan Abuhassna and Samer Alnawajha
- Subjects
transactional distance theory ,TDT ,distance learning ,instructional design ,Education - Abstract
Moore established transactional distance theory (TDT) to grasp transactional distance in the context of distance learning. Research using TDT in distance, open, and online learning environments has been undertaken. However, there are information gaps about what constitutes progress, future directions, and research deficits pertaining to TDT in the context of distance education. This systematic literature review (SLR) used PRISMA to analyze 42 papers to close the knowledge gap. Currently, TDT research in distance learning integrates various theories and models; nevertheless, there is a movement toward acceptance models and how to incorporate more relevant theories within the framework of distance learning. Future studies should integrate other aspects such as student motivation, student acceptance of technology, and student preparedness and desire to utilize technology in learning environments. As most research samples students, a research gap involving instructors and heterogeneous groups is proposed. It is projected that quantitative research will predominate in the future, leaving qualitative and mixed approaches as areas of investigation. This review illuminates the developments, future agenda, and research needs pertaining to TDT in the context of distance learning. It might serve as a foundation for future study on TDT in the context of distance, open, and online education.
- Published
- 2023
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- View/download PDF
29. The impact of magnetic resonance imaging in the assessment of iron overload in heart and liver in transfusion-dependent thalassemic children: Minia experience.
- Author
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El Sherif, Ashraf M., Ibrahim, Ahmed S., Elsayed, Mohamed A., Abdelhakim, Ahmed S., and Ismail, Ahlam M.
- Abstract
Background: Thalassemia is the most prevalent single-gene disorder. Myocardial and hepatic iron depositions lead to complications and eventually death. We aimed to assess the diagnostic efficacy of magnetic resonance imaging T2* (MRI T2*) in quantifying iron overload in liver and heart in transfusion-dependent B-thalassemia major (TDT) children. Methods: Prospective clinical study was carried on sixty children diagnosed with TDT. All of them underwent laboratory investigations, including CBC, serum iron, and ferritin levels. MRI T2* of the heart and liver was carried out to measure the iron overload and estimate the left ventricular ejection fraction (LVEF). Results: Thirty-eight males and 22 females with TDT with a mean age of 13.23 years were included. Twenty cases (33.3%) had severe liver iron overload, while 36 (60%) had normal cardiac iron. There was a moderate significant negative association between hepatic and cardiac iron deposition (P = 0.03). All cases with severe cardiac iron overload had impaired LVEF below 56%. A non-significant positive association was noticed between cardiac iron deposition and LVEF in T2* (P = 0.08). A moderate negative significant association was detected between hepatic iron deposition and serum ferritin, while a fair negative significant association was found between serum ferritin and cardiac iron deposition with P values of 0.04 and 0.02, respectively. Conclusion: MRI T2* is the gold standard for monitoring and follow-up of iron overload in the heart and liver. It should be routinely performed in all TDT children as liver iron, and serum ferritin do not reflect cardiac iron overload. [ABSTRACT FROM AUTHOR]
- Published
- 2021
- Full Text
- View/download PDF
30. Family-Based Analysis Combined with Case–Controls Study Implicate Roles of PCNT in Tourette Syndrome
- Author
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Liu W, Guo Y, Liu X, Zhang R, Dong J, Deng H, He F, Che F, Liu S, and Yi M
- Subjects
tourette syndrome ,pcnt ,tdt ,hrr ,case-control study ,Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Wenmiao Liu, 1, 2,* Yixia Guo, 3,* Xiumei Liu, 4 Ru Zhang, 1, 2 Jicheng Dong, 5 Hao Deng, 6 Fan He, 7 Fengyuan Che, 8 Shiguo Liu, 1, 2 Mingji Yi 9 1Medical Genetics Department, The Affiliated Hospital of Qingdao University, Qingdao, People’s Republic of China; 2Prenatal Diagnosis Center, The Affiliated Hospital of Qingdao University, Qingdao, People’s Republic of China; 3Child Health Care Department, Rizhao People’s Hospital, Rizhao, People’s Republic of China; 4Department of Pediatrics, Yuhuangding Hospital of Qingdao University, Yantai, People’s Republic of China; 5Department of Psychiatry, Mental Health Center of Qingdao, Qingdao, People’s Republic of China; 6Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, People’s Republic of China; 7Center of Schizophrenia, Laboratory of Brain Disorders, Beijing Institute for Brain Disorders, Beijing Anding Hospital, Capital Medical University, Beijing, People’s Republic of China; 8Department of Neurology, Linyi People’s Hospital, Linyi People’s Hospital, Linyi, People’s Republic of China; 9Child Health Care Department, The Affiliated Hospital of Qingdao University, Qingdao, People’s Republic of China*These authors contributed equally to this workCorrespondence: Shiguo Liu; Mingji YiThe Affiliated Hospital of Qingdao University, 16 Jiangsu Road, Qingdao 266003, People’s Republic of ChinaTel +86 53282911385; +86 53282911223Email 15836035021@163.com; yimji@126.comObjective: Tourette syndrome (TS) is a childhood-onset neuro-developmental disorder and the genetic factors play an important role in its etiology. As pericentrin (PCNT) binds to disruption-in-schizophrenia 1 (DISC1) and is a risk factor for many mental illnesses, we aimed to investigate the effect of PCNT on TS in the Chinese Han population.Methods: Five tag single nucleotide polymorphisms (SNPs) (rs17371795, rs2839227, rs2839228, rs6518291 and rs9983522) in PCNT were screened in 407 TS nuclear family trios and 506 healthy persons by the TaqMan assays real-time. A common case–control study was designed to recognize differences in the genetic distributions. Additionally, we conducted a family based association study including transmission disequilibrium test, haplotype relative risk, and haplotype-based haplotype relative risk for these SNPs.Results: The allele frequencies revealed a significant difference of rs17371795, rs2839227 and rs2839228 between TS patients and controls (for rs17371795: P=0.002, OR=0.691, 95% CI=0.547– 0.874; for rs2839227: P=0.001, OR=0.682, 95% CI=0.540– 0.860; for rs2839228: P=0.028, OR=0.775, 95% CI=0.618– 0.973) and genotypic distributions showed a positive association only in rs17371795 and rs2839227 (for rs17371795: P=0.010; for rs2839227: P=0.008). Moreover, only rs2839227 remained significant after Bonferroni correction (P< 0.01).Conclusion: Our study suggested genetic variability at the PCNT locus may be associated with TS risk in the Chinese Han population.Keywords: Tourette syndrome, PCNT, TDT, HRR, case-control study
- Published
- 2020
31. A New Treatment Strategy for Early T‐Cell Precursor Acute Lymphoblastic Leukemia: A Case Report and Literature Review.
- Author
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Mao, Jianping, Xue, Lianguo, Wang, Haiqing, Zhu, Yuanxin, Wang, Juan, and Zhao, Lidong
- Subjects
- *
LYMPHOBLASTIC leukemia , *ACUTE leukemia , *PROGNOSIS , *GRANULOCYTE-colony stimulating factor , *HEMATOPOIETIC stem cell transplantation - Abstract
Early T‐cell precursor acute lymphoblastic leukemia (ETP-ALL) is an aggressive and extremely fatal subtype of T-cell acute lymphoblastic leukemia (T-ALL), characterized by the similar transcriptional and immunophenotypic profiles to those of early T-cell precursors and positive expressions of myeloid antigens. Besides, the gene expression profile in ETP-ALL is similar to that in myeloid malignancies. The clinical characteristics, treatments and prognoses of ETP-ALL are significantly heterogeneous. In the present study, we reported a 43-year-old female patient who lacked terminal deoxynucleotidyl transferase (TDT) expression in immunophenotype and displayed mutations of fms-like tyrosine kinase-internal tandem duplication (FLT3-ITD), paired-box domain 5 (PAX5) and SH2B adaptor protein 3 (SH2B3) (PAX5 and SH2B3, the genes critical to B cell identity and function), which represent myeloid and precursor B-lineage associated gene mutations, respectively. It was a rare T-ALL or T-lineage case. Because of multiple poor prognostic factors in this case, conventional induction regimens, like hyper-CVAD (cyclophosphamide, vincristine, doxorubicin, dexamethasone), were invalid. The patient showed inadequate response, suggesting that this treatment was not employed on the basis of the immunophenotype. FLAG-IDA regimen (fludarabine, cytarabine [Ara-C], granulocyte-colony stimulating factor [G-CSF] and idarubicin), which is usually applied to eliminate leukemia cells, was administered combining with sorafenib as an effective induction chemotherapy. The case achieved long-term survival following the allogeneic hematopoietic stem cell transplantation (allo-HSCT). We recommend that adult ETP-ALL patients can be treated with a myeloid-oriented chemotherapy (as frontline induction treatment) along with gene-targeting inhibitors, followed by allo-HSCT. [ABSTRACT FROM AUTHOR]
- Published
- 2021
- Full Text
- View/download PDF
32. Transformation of a low-grade follicular lymphoma into a composite lymphoma combining a high-grade B-cell lymphoma and a lymphoblastic neoplasm expressing Terminal deoxynucleotidyl Transferase: a case report.
- Author
-
Bouroumeau, Antonin, Kaphan, Eleonore, Legrand, Clémentine, Raskovalova, Tatiana, Szymanski, Gautier, Vettier, Claire, Lefebvre, Christine, Jacob, Marie-Christine, McLeer, Anne, Peuchmaur, Michel, Gressin, Rémy, and Sartelet, Hervé
- Subjects
FLUORESCENCE in situ hybridization ,LYMPHOMAS ,MYC oncogenes ,TUMORS ,POLYMERASE chain reaction - Abstract
Background: High-grade B-cell lymphoma with rearrangements of MYC and BCL2 and/or BCL6 is an aggressive mature B-cell neoplasm, whereas B-lymphoblastic lymphoma is immature cell proliferation, with a frequent positivity for terminal deoxynucleotidyl transferase. The transformation of a low-grade follicular lymphoma into a lymphoblastic neoplasm expressing terminal deoxynucleotidyl transferase is a very rare event.Case Presentation: A 55-year-old Caucasian man was followed for a grade 1-2 follicular lymphoma carrying a t(14;18) IGH/BCL2+ and was initially treated with R-CHOP. The follicular lymphoma presented two relapses. In the third relapse, the patient had multiple lymphadenopathy and ascites, which motivated a retroperitoneal biopsy and an ascitic tap. These samples were analyzed by histological, cytological, flow cytometric, cytogenetic, and molecular assessments. The patient died of a multiple organ dysfunction syndrome 2 weeks after his third relapse. The biopsy revealed a diffuse proliferation made up of two types of tumor cells: centroblasts (Bcl-6-positive) and immature cells (terminal deoxynucleotidyl transferase-positive). Flow cytometric analysis confirmed the immature phenotype, with an expression of terminal deoxynucleotidyl transferase, combined with a loss of membrane immunoglobulins. The cytogenetic analysis performed on the ascites revealed a clonal evolution characterized by a t(8;22)(q24;q11) MYC+ translocation not previously detected in follicular lymphoma. Fluorescence in situ hybridization confirmed the double rearrangement of the BCL2 and MYC genes. Polymerase chain reactions and sequencing were used to study the clonal relationship between follicular lymphoma and the secondary tumors. The IGVH gene rearrangement revealed a unique clonal rearrangement involving an IGVH4-59 subset in all three specimens.Conclusion: These findings suggest a clonal relationship between the two types of lymphoma cells. Furthermore, they support the transformation of an acute follicular lymphoma into a composite lymphoma combining a high-grade B-cell lymphoma and a lymphoblastic neoplasm expressing terminal deoxynucleotidyl transferase. This case report highlights the possible transformation of follicular lymphoma into a highly aggressive and immature proliferation. [ABSTRACT FROM AUTHOR]- Published
- 2020
- Full Text
- View/download PDF
33. Leukocyte telomere length in patients with transfusion-dependent thalassemia.
- Author
-
Nanthatanti, Nithita, Tantiworawit, Adisak, Piriyakhuntorn, Pokpong, Rattanathammethee, Thanawat, Hantrakool, Sasinee, Chai-Adisaksopha, Chatree, Rattarittamrong, Ekarat, Norasetthada, Lalita, Tuntiwechapikul, Wirote, Fanhchaksai, Kanda, Charoenkwan, Pimlak, Kumfu, Sirinart, and Chattipakorn, Nipon
- Subjects
TELOMERES ,LEUKOCYTES ,HEMOLYTIC anemia ,DNA repair ,OXIDATIVE stress ,THALASSEMIA - Abstract
Background: Thalassemia is a hereditary hemolytic anemia with a severity ranging from mild, non-transfusion dependent to severe chronic anemia requiring lifelong transfusion. Transfusional iron overload is a major complication in patients with transfusion-dependent thalassemia (TDT). Telomeres are sequences of nucleotides forming the end caps of chromosomes that act as a DNA repair system. Iron overload in thalassemia can cause increased oxidative stress which leads to cellular damage and senescence. This may result in telomere length shortening. The degree of telomere length shortening may reflect the severity of thalassemia. Methods: This research aimed to study the leukocyte telomere length in patients with TDT in comparison to non-thalassemic individuals and to identify the clinical and laboratory parameters that are associated with telomere length. We conducted a cross-sectional study in patients with TDT aged ≥18 years. Leukocyte telomere length was measured by real-time quantitative PCR. Results: Sixty-five patients with TDT were enrolled onto the study. There were 37 female patients (54.4%). The median age was 27 (18–57) years, and mean pre-transfusion hemoglobin level was 7.1 (± 1.07) g/dL. The mean telomere to single copy gene (T/S) ratios of patients with TDT and the controls were 0.72 ± 0.18 and 0.99 ± 0.25, respectively (p < 0.0001). There was a significant correlation between the T/S ratio and age (p = 0.0002), and hemoglobin level (p = 0.044). There was no correlation between telomere length and other factors. Conclusions: Our study showed that TDT patients had shorter leukocyte telomere length compared with controls. Leukocyte telomere shortening in TDT was an aging-dependent process and associated with lower hemoglobin level. [ABSTRACT FROM AUTHOR]
- Published
- 2020
- Full Text
- View/download PDF
34. Conectividad a Internet en zonas rurales mediante tecnologías de TDT (DVB-RCT2), o telefonía móvil (4G-LTE)
- Author
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Ciro Diego Radicelli-García, Margarita Pomboza-Floril, and Lexinton Cepeda-Astudillo
- Subjects
TDT ,DVB-RCT2 ,4G-LTE ,Technology ,Mining engineering. Metallurgy ,TN1-997 - Abstract
Este artículo revisa las características y arquitectura de la tecnología de TDT con canal de retorno inalámbrico DVB-RCT2 versus la tecnología celular 4G LTE, y las compara en términos de ancho de banda, esquemas de modulación, velocidad usada en bajada y subida, intervalo de guarda usado, metodología de acceso, portadoras usadas, transmisión de contenidos IP, técnicas de corrección de errores, entre otros, con el objetivo de verificar cuál de estas dos tecnologías podría ser la más apropiada para brindar conectividad a Internet en zonas rurales de Latinoamérica.
- Published
- 2018
- Full Text
- View/download PDF
35. Frecuencias utilizadas en recepción colectiva de radio y TV
- Author
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Universitat Politècnica de València. Escuela Politécnica Superior de Alcoy - Escola Politècnica Superior d'Alcoi, Universitat Politècnica de València. Departamento de Comunicaciones - Departament de Comunicacions, Camacho García, Andrés, Universitat Politècnica de València. Escuela Politécnica Superior de Alcoy - Escola Politècnica Superior d'Alcoi, Universitat Politècnica de València. Departamento de Comunicaciones - Departament de Comunicacions, and Camacho García, Andrés
- Abstract
Identificar las bandas de frecuencia que utilizan los distintos servicios de Radiodifusión sonora y televisión, en una instalación de I.C.T.
- Published
- 2023
36. Identification of genetic risk factors for diabetic nephropathy employing case-control and family-based association studies
- Author
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Feeney, Susan Anne
- Subjects
572.8 ,Diabetes mellitus ,Insulin ,Pathogenesis ,TDT - Published
- 1999
37. T-Cell Acute Lymphoblastic Leukemia/Lymphoma (T-ALL) With Negative Screening Immaturity Markers and Gamma-Delta Receptor Expression.
- Author
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Faraz M, Parmigiani A, Monkash N, and Chen A
- Abstract
T-cell acute lymphoblastic leukemia/lymphoma (T-ALL) is characterized by the combination of T-cell lineage and the presence of immaturity marker(s). Sometimes, the most common immaturity markers for initial flow cytometry screening in T-ALL may be negative, which can be a diagnostic pitfall. When a lack of common first-line immaturity markers is encountered in combination with gamma/delta T-cell receptor expression, a misdiagnosis of mature gamma-delta T-cell leukemia/lymphoma could be rendered. Here, we discuss two T-ALL cases with the absence of common flow cytometry immaturity markers and positive gamma/delta receptor expression., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2024, Faraz et al.)
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- 2024
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38. Key Determinants of Phenotypic Heterogeneity of Hb E/β Thalassemia: A Comparative Study from Eastern India.
- Author
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Kalantri, Siddhesh Arun, Ray, Rudra, Choudhuri, Soumita, Roy, Swarnalata, and Bhattacharyya, Maitreyee
- Abstract
HbE Beta thalassemia is phenotypically very diverse disease. We aim to study role of various genetic factors in determining severity of this disease. 243 diagnosed cases of HbE Beta thalassemia were included in this study. Patients were divided in two arms—transfusion dependent and non-transfusion dependent arms. Various factors (percentage of haemoglobin F, hemoglobin E, type of Beta mutation, Xmn1 polymorphism, alpha deletion, HPFH mutation) were evaluated in these patients. Xmn1 polymorphism (homozygous and heterozygous), presence of HPFH mutation and alpha deletion were more prevalent in NTDT arm versus TDT arm (p value < 0.001). Higher prevelance of severe beta mutation IVS 1-5 (G → C) mutation {64(61.54%) vs 38(27.34); p value < 0.001} was found in TDT arm when above factors were excluded from analysis. Higher mean haemoglobin F and mean Hemoglobin E percentage was associated with NTDT arm (p value < 0.001). Various factors (hemoglobin F and E percentage, Xmn1 polymorphism, HPFH mutation, alpha deletion and IVS 1-5 Beta mutation) were identified to affect severity of this cohort. [ABSTRACT FROM AUTHOR]
- Published
- 2020
- Full Text
- View/download PDF
39. Denosumab effects on serum levels of the bone morphogenetic proteins antagonist noggin in patients with transfusion-dependent thalassemia and osteoporosis.
- Author
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Voskaridou, Ersi, Ntanasis-Stathopoulos, Ioannis, Christoulas, Dimitrios, Sonnleitner, Linda, Papaefstathiou, Athanasios, Dimopoulou, Maria, Missbichler, Albert, Kanellias, Nikolaos, Repa, Konstantina, Papatheodorou, Athanasios, Peppa, Melpomeni, Hawa, Gerhard, and Terpos, Evangelos
- Subjects
- *
BONE morphogenetic proteins , *THALASSEMIA , *BONE density , *CARPAL bones , *OSTEOPOROSIS , *ALLOIMMUNITY , *DENOSUMAB - Abstract
Introduction: Noggin is an antagonist of bone morphogenetic proteins (BMPs) and has a strong effect on osteogenesis. Osteoporosis is a common complication of transfusion dependent beta-thalassemia (TDT) and denosumab has been recently emerged as a promising therapeutic option. This was a post hoc investigation of serum noggin levels among TDT patients with osteoporosis who participated in a randomized, placebo-control, phase 2b study. Methods: Patients received either 60 mg denosumab (n = 32) or placebo (n = 31) every 6 months for 12 months. Noggin was measured, for the first time in thalassemia patients, at baseline and at 12 months, using a recently developed high sensitivity fluorescent immunoassay. Results: Both groups showed a significant increase in noggin serum levels (denosumab p < 0.001; placebo p < 0.0001). Interestingly, the increase was higher in the placebo group. Furthermore, we observed a strong correlation between noggin and wrist bone mineral density (r = −0.641, p = 0.002) only in the denosumab group. Conclusion: In conclusion, higher noggin levels reflected more BMP inhibition, since our assay detects free bioactive noggin, which in turn impaired bone formation in placebo group. Therefore, denosumab possibly regulates noggin and favours bone turnover in TDT patients with osteoporosis through a novel mechanism of action. [ABSTRACT FROM AUTHOR]
- Published
- 2019
- Full Text
- View/download PDF
40. Parámetros configurables de capa física y MAC de un nuevo estándar de TDT con canal de retorno inalámbrico para proporcionar conectividad a Internet en zonas rurales de Latinoamérica
- Author
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Ciro Diego Radicelli García and Narcis Cardona-Marcet
- Subjects
TDT ,capa-física, capa-MAC ,DVB-RCT2 ,Technology ,Mining engineering. Metallurgy ,TN1-997 - Abstract
Este artículo propone una guía para la configuración de los parámetros de capa física y MAC de un nuevo estándar de televisión digital terrestre (TDT) de segunda generación con canal de retorno inalámbrico denominado DVB-RCT2, particularizando en la capa física; (i) los modos de transmisión, (ii) las estructuras de ráfagas (BS1, BS2, BS3), y (iii) los esquemas de acceso al medio (MAS) para diferentes tamaños de FFT; y en la capa MAC (i) los modos de acceso, considerando un ancho de banda de 6 MHz. Para obtener los datos de esta investigación se ha emulado las condiciones del canal RCT2 en un laboratorio de radiodifusión, donde se ha generado el flujo de transporte de RCT2, obteniendo valores sobre el funcionamiento tanto de capa física como de MAC, que están representados en tablas, constatando así las capacidades de DVB-RCT2 sobre DVBRCT, lo que lo convierte en una interesante alternativa para proporcionar acceso a Internet a zonas rurales.
- Published
- 2016
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41. Impacto de la liberación del dividendo digital en la TDT autonómica: los casos de Andalucía, Cataluña, Baleares y Navarra
- Author
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Isabel Fernández Alonso, Marc Espín, and Eladio Gutiérrez Montes
- Subjects
política audiovisual ,dividendo digital ,comunidades autónomas ,tdt ,Communication. Mass media ,P87-96 ,Advertising ,HF5801-6182 - Abstract
Este artículo describe y analiza las implicaciones para la televisión terrestre de cobertura autonómica derivadas de la supresión, en el Plan Técnico Nacional de TDT de 2014, de un múltiplex por comunidad. Esta medida es consecuencia de la liberación del denominado dividendo digital cuyas frecuencias (790-862 MHz), hasta ahora ocupadas por la televisión herciana, se destinarán a los servicios de comunicaciones electrónicas. En el texto se profundiza en el análisis de las cuatro comunidades (Andalucía, Cataluña, Baleares y Navarra) cuyo desacuerdo con esta medida ha tenido una mayor trascendencia por cuanto la reducción de espectro afecta a la oferta de TDT existente o prevista.
- Published
- 2016
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- View/download PDF
42. Penyajian Informasi Spasial Pertanahan Berbasis Bencana Tanah Longsor di Gedangsari, Gunungkidul
- Author
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Aprin Sulistyani, Arief Syaifullah, and Mr. Kusmiarto
- Subjects
tanah longsor ,relokasi tanah ,TDT ,Land use ,HD101-1395.5 - Abstract
Abstract : Indonesia is in the region with high potential threat of natural disasters. Landslides is the largest and most deadly threat in Indonesia (Gema BNPB 2015). Therefore, disaster risk reduction is needed to minimize the impact of disaster, by encouraging collection, management and access to the risk information using location-based database. To support these efforts, this research sought to describe the distribution of the level of threat, vulnerability, capacity and risk of landslides in the district of Gedangsari through decisive element of risk weighting, which are threats, vulnerabilities and capacities for 67 hamlets in study area. The result were presented as Threat Map, Vulnerability Map, Capacity Map and Landslide Risk Map. Furthermore, these maps were overlayed with Land Registry Map and Technique Base-Map. The results were analyzed using spatial and quantitative descriptive methods to provide land information-based landslides in Kecamatan Gedangsari. This information is useful to support the work of National Land Agency in providing safe land relocation near to the disaster site and to maintain Cadastral Control Points. Keywords : landslide, land relocation, contol points Intisari : Wilayah Indonesia berada pada potensi tinggi ancaman bencana alam. Bencana tanah longsor merupakan ancaman terbesar dan paling mematikan di Indonesia (Gema BNPB 2015). Oleh karena itu perlu upaya pengurangan risiko bencana untuk meminimalisir dampak yang ditimbulkan dengan mendorong pengumpulan, manajemen dan akses informasi risiko menggunakan dasar data berbasis lokasi. Dalam rangka mendukung upaya tersebut, penelitian ini mencoba menggambarkan sebaran tingkat ancaman, kerentanan, kapasitas dan risiko bencana tanah longsor di Kecamatan Gedangsari melalui pembobotan unsur penentu risiko yaitu ancaman, kerentanan dan kapasitas pada 67 dusun. Hasilnya, disajikan dalam bentuk Peta Ancaman, Peta Kerentanan, Peta Kapasitas dan Peta Risiko Bencana Tanah Longsor. Selanjutnya, peta-peta tersebut dipadukan dengan Peta Pendaftaran Tanah dan Peta Dasar Teknik. Hasil overlay kemudian dianalisis secara spasial dan deskriptif kuantitatif untuk menyajikan informasi pertanahan berbasis bencana tanah longsor di Kecamatan Gedangsari. Informasi tersebut bermanfaat dalam rangka melaksanakan fungsi Badan Pertanahan Nasional seperti kegiatan penyediaan tanah relokasi yang aman dan dekat dengan lokasi bencana dan pemeliharaan TDT. Kata Kunci : tanah longsor, relokasi tanah, TDT
- Published
- 2018
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43. Merkel cell carcinoma mimicking transformed chronic lymphocytic leukemia/small lymphocytic lymphoma
- Author
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Ismael Bah, Shaoying Li, C. Cameron Yin, Guilin Tang, and Jie Xu
- Subjects
chronic lymphocytic leukemia/small lymphocytic lymphoma ,merkel cell carcinoma ,PAX5 ,TdT ,Medicine ,Medicine (General) ,R5-920 - Abstract
Abstract Although MCC has been reported in patients with CLL/SLL, it is extremely rare to observe these two within the same tumor. MCC's positivity for PAX5 and TdT may pose a diagnostic challenge by mimicking transformed CLL/SLL. A thorough workup is critical in reaching the correct diagnosis.
- Published
- 2019
- Full Text
- View/download PDF
44. The Spanish Supreme Court ruling on DTT channel adjustment: the television industry-standpoint
- Author
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María-Jesús DÍAZ-GONZÁLEZ and Natalia QUINTAS-FROUFE
- Subjects
TDT ,Tribunal Supremo ,sentencia ,España ,audiencias televisivas. ,Communication. Mass media ,P87-96 - Abstract
On the 6th May 2014 nine nationally broadcast Digital Terrestrial TV (DTT) channels stopped broadcasting. The reason was the sentence imposed by the Supreme Court which considered these channels to be lacking the necessary licence. The objective of this article is to carry out a rigorous and critical analysis of this action. The analysis is from the point of view of the affected broadcasting companies, the law which covers the rights of these channels and how they communicated this information to their audiences. The analysis reaches the conclusion that the sentence is highly questionable and that it presents a backward step for the stability of DTT in Spain.
- Published
- 2015
45. FUT2 Variants Confer Susceptibility to Familial Otitis Media.
- Author
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Santos-Cortez, Regie Lyn P., Chiong, Charlotte M., Frank, Daniel N., Ryan, Allen F., Giese, Arnaud P.J., Bootpetch Roberts, Tori, Daly, Kathleen A., Steritz, Matthew J., Szeremeta, Wasyl, Pedro, Melquiadesa, Pine, Harold, Yarza, Talitha Karisse L., Scholes, Melissa A., Llanes, Erasmo Gonzalo d.V., Yousaf, Saira, Friedman, Norman, Tantoco, Ma. Leah C., Wine, Todd M., Labra, Patrick John, and Benoit, Jeanne
- Subjects
- *
FUCOSYLTRANSFERASE genetics , *OTITIS media , *HOMOZYGOSITY , *RNA sequencing , *HUMAN microbiota - Abstract
Non-secretor status due to homozygosity for the common FUT2 variant c.461G>A (p.Trp154∗) is associated with either risk for autoimmune diseases or protection against viral diarrhea and HIV. We determined the role of FUT2 in otitis media susceptibility by obtaining DNA samples from 609 multi-ethnic families and simplex case subjects with otitis media. Exome and Sanger sequencing, linkage analysis, and Fisher exact and transmission disequilibrium tests (TDT) were performed. The common FUT2 c.604C>T (p.Arg202∗) variant co-segregates with otitis media in a Filipino pedigree (LOD = 4.0). Additionally, a rare variant, c.412C>T (p.Arg138Cys), is associated with recurrent/chronic otitis media in European-American children (p = 1.2 × 10−5) and US trios (TDT p = 0.01). The c.461G>A (p.Trp154∗) variant was also over-transmitted in US trios (TDT p = 0.01) and was associated with shifts in middle ear microbiota composition (PERMANOVA p < 10−7) and increased biodiversity. When all missense and nonsense variants identified in multi-ethnic US trios with CADD > 20 were combined, FUT2 variants were over-transmitted in trios (TDT p = 0.001). Fut2 is transiently upregulated in mouse middle ear after inoculation with non-typeable Haemophilus influenzae. Four FUT2 variants—namely p.Ala104Val, p.Arg138Cys, p.Trp154∗, and p.Arg202∗—reduced A antigen in mutant-transfected COS-7 cells, while the nonsense variants also reduced FUT2 protein levels. Common and rare FUT2 variants confer susceptibility to otitis media, likely by modifying the middle ear microbiome through regulation of A antigen levels in epithelial cells. Our families demonstrate marked intra-familial genetic heterogeneity, suggesting that multiple combinations of common and rare variants plus environmental factors influence the individual otitis media phenotype as a complex trait. [ABSTRACT FROM AUTHOR]
- Published
- 2018
- Full Text
- View/download PDF
46. PROYECTO PARA LA INSTALACIÓN DE UNA ESTACIÓN REEMISORA (GAP-FILLER) DE TELEVISIÓN DIGITAL TERRESTRE EN LA LOCALIDAD DE BORRIOL
- Author
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Tormo Sanjuán, Guillermo
- Subjects
Reemisor ,TEORIA DE LA SEÑAL Y COMUNICACIONES ,Royal Decree 391/2019 ,Real Decreto 391/2019 ,Grado en Ingeniería de Tecnologías y Servicios de Telecomunicación-Grau en Enginyeria de Tecnologies i Serveis de Telecomunicació ,GAP-FILLER ,TDT - Abstract
[ES] En cuanto a cobertura de Televisión Digital Terrestre se refiere, la localidad de Borriol se encuentra cubierta por el Centro Emisor de Desierto, cuya cobertura alcanza aproximadamente el 90 % del casco urbano de la población. No obstante hay una pequeña parte del casco antiguo, sin visibilidad del centro donante, y cuyos niveles de recepción, tanto nivel de campo como calidad y relación C/N, se ven seriamente afectados. El objetivo de este trabajo final de grado será redactar el proyecto con la finalidad de ampliar la cobertura de TDT en la población de Borriol, en especial la parte más oeste de la población, donde se sitúa el casco antiguo, quedando como zona de sombra del centro principal que ofrece cobertura a dicha población (Desierto). La instalación de dicho reemisor o ¿gapfiller¿ permitirá que se reciba señal con niveles de Campo, BER y relación señal a ruido C/N aceptables en la población de Borriol, concretamente en los lugares cercanos al casco antiguo de la población, donde la recepción de señal desde el centro de Desierto es deficiente y de baja calidad. El proyecto describirá la instalación y las características técnicas de los equipos que la conforman, de acuerdo al Real Decreto 391/2019, de 21 de junio, por el que se aprueba el Plan Técnico Nacional de la Televisión Digital Terrestre y se regulan diferentes aspectos para la liberación del segundo dividendo digital, así como a las normas básicas para la realización de proyectos técnicos de estaciones de radiodifusión (sonora y de televisión)., [EN] As far as Digital Terrestrial Television (DTT) coverage is concerned, the town of Borriol is covered by the Desert Broadcast Center, whose coverage reaches approximately 90% of the urban area of the population. However, there is a small part of the old town, without visibility of the donor center, and whose reception levels, both field level and quality and C / N ratio, are seriously affected. The objective of this work will be to draft the project in order to expand DTT coverage in the town of Borriol, especially the westernmost part of the town, where the old town is located, remaining as a shadow area of the main center that offers coverage to said population (Desert). The installation of said re-emitter or ¿gapfiller¿ will allow signal to be received with acceptable Field, BER and signal-to-noise levels in the town of Borriol, specifically in places near the old town, where reception signal from the center of Desierto is poor and of low quality. The project will describe the installation and the technical characteristics of the equipment that make it up, in accordance with Royal Decree 391/2019, of June 21, which approves the National Technical Plan for Digital Terrestrial Television and regulates different aspects for the release of the second digital dividend, as well as the basic standards for carrying out technical projects for radio broadcasting stations (sound and television).
- Published
- 2022
47. The new Digital Television channels in Spain. The changes of the free TV offer two years after the switch on
- Author
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José Juan VIDELA RODRÍGUEZ and Carmen COSTA SÁNCHEZ
- Subjects
Televisión ,Programación ,Audiencias ,TDT ,España. ,Communication. Mass media ,P87-96 - Abstract
The evolution of television in our country has had like last stage the analogue switch off and the birth of multiple programs that nourish the offer of the Digital Television. In the present article we analyze the reconfiguration of the offer of Terrestrial Digital Television (TDT) in our country, after the approval of the Real-Decree 365/2010 to assign the multiple of the TDT once finalized the analog broadcasts.
- Published
- 2014
48. Estudi sobre l'impacte dels parcs eòlics en la qualitat de la recepció de TDT
- Author
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Universitat Politècnica de Catalunya. Departament de Teoria del Senyal i Comunicacions, García Vizcaíno, David, Nogueras Roca, Maria Montserrat, Universitat Politècnica de Catalunya. Departament de Teoria del Senyal i Comunicacions, García Vizcaíno, David, and Nogueras Roca, Maria Montserrat
- Abstract
The aim of this project is to determine whether the construction of wind farms can deteriorate the quality of DTT coverage reception, specifically the reception through the DVB-T standard, and how this signal is affected. To carry out this study, the criteria of the regulations ITU-R 805, ITU-R 1893 and the report ITU-R 2142 as well as Spanish legislation have been followed. The software used has been Sirenet complemented with Cellnex Telecom databases. Different studies have been carried for each distribution and dissemination system. For distribution, diffraction, reflection, and near field have been analyzed; and for distribution the field level and C / N for public and private television multiplexes have been analyzed. By comparing these data with the census information, it has been possible to determine an approximate number of victims. It has been concluded that wind turbines, and consequently wind farms, can affect the DTT distribution and distribution network, even preventing decoding. In this case, the Monte Neme wind farm project (A Coruña) would leave 51% of the population without public television coverage and a 49% without private television coverage. It would also affect 2 nearby radio links: Carballo-Carballo Vazquez de Praga and Carballo-Retegal Montemayor Laracha, in both cases cutting up to the 5th Fresnel zone., Objectius de Desenvolupament Sostenible::9 - Indústria, Innovació i Infraestructura
- Published
- 2022
49. Connectivity to the Internet in rural areas using DTT (DVB-RCT2) technologies, or mobile telephony (4G-LTE).
- Author
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Radicelli-García, Ciro Diego, Pomboza-Floril, Margarita, and Cepeda-Astudillo, Lexinton
- Abstract
Copyright of Dyna is the property of Universidad Nacional de Colombia, Medellin, Facultad de Minas 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.)
- Published
- 2018
- Full Text
- View/download PDF
50. THE CHALLENGE OF IMPLEMENTING INTERACTIVE CONTENT IN DIGITAL TERRESTRIAL ECUADORIAN TELEVISION.
- Author
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MARTÍNEZ, MAYRA, LUCANO, SANTIAGO, and PAZMIÑO, ÁLVARO
- Subjects
- *
DIGITAL television , *IMAGE quality analysis - Abstract
This paper seeks to analyze how the process of implementing interactive content in Ecuadorian digital terrestrial television is, as a tool to leverage not only the quality of image and sound generated, but the new forms of interactivity they offer, in which users go from being viewers to become participants in the multimedia content generated by the media. The study collects information to analyze the process of implementing digital terrestrial television through a content analysis of information, which is descriptive, systematic and quantitative; a monitoring of the Ecuadorian television channels Teleamazonas, Ecuavisa, RTS, Gama Tv and TC Television in the period between November 2016 and February 2017. We conclude that, although four years have passed since Ecuador began emissions testing digital terrestrial television, some television stations have not taken advantage of the true potential of the platform, being zero in some cases the presence of multimedia content allowing the user to interact with the media. On the other hand, it also determines that the Ecuadorian television channels have a pending task related with creating interactive content. [ABSTRACT FROM AUTHOR]
- Published
- 2017
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