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  1. Article ; Online: Genetic substrates of bipolar disorder risk in Latino families.

    Escamilla, Michael / Merhi, Camille

    Molecular psychiatry

    2022  Volume 28, Issue 1, Page(s) 154–167

    Abstract: Genetic studies of bipolar disorder (BP) have been conducted in the Latin American population, to date, in several countries, including Mexico, the United States, Costa Rica, Colombia, and, to a lesser extent, Brazil. These studies focused primarily on ... ...

    Abstract Genetic studies of bipolar disorder (BP) have been conducted in the Latin American population, to date, in several countries, including Mexico, the United States, Costa Rica, Colombia, and, to a lesser extent, Brazil. These studies focused primarily on linkage-based designs utilizing families with multiplex cases of BP. Significant BP loci were identified on Chromosomes 18, 5 and 8, and fine mapping suggested several genes of interest underlying these linkage peaks. More recently, studies in these same pedigrees yielded significant linkage loci for BP endophenotypes, including measures of activity, sleep cycles, and personality traits. Building from findings in other populations, candidate gene association analyses in Latinos from Mexican and Central American ancestry confirmed the role of several genes (including CACNA1C and ANK3) in conferring BP risk. Although GWAS, methylation, and deep sequencing studies have only begun in these populations, there is evidence that CNVs and rare SNPs both play a role in BP risk of these populations. Large segments of the Latino populations in the Americas remain largely unstudied regarding BP genetics, but evidence to date has shown that this type of research can be successfully conducted in these populations and that the genetic underpinnings of BP in these cohorts share at least some characteristics with risk genes identified in European and other populations.
    MeSH term(s) Humans ; Bipolar Disorder/genetics ; Genetic Linkage/genetics ; Genetic Predisposition to Disease/genetics ; Hispanic or Latino/genetics ; Pedigree ; United States ; Central American People/genetics
    Language English
    Publishing date 2022-08-10
    Publishing country England
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 1330655-8
    ISSN 1476-5578 ; 1359-4184
    ISSN (online) 1476-5578
    ISSN 1359-4184
    DOI 10.1038/s41380-022-01705-5
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: EASIX score predicts inferior survival after allogeneic hematopoietic cell transplantation.

    Sanchez-Escamilla, Miriam / Flynn, Jessica / Devlin, Sean / Maloy, Molly / Fatmi, Samira A / Tomas, Ana Alarcon / Escribano-Serrat, Silvia / Ponce, Doris / Sauter, Craig S / Giralt, Sergio A / Scordo, Michael / Perales, Miguel-Angel

    Bone marrow transplantation

    2023  Volume 58, Issue 5, Page(s) 498–505

    Abstract: The Endothelial Activation and Stress Index (EASIX) is a prognostic tool that uses common clinical laboratory values and has been shown to predict non-relapse mortality (NRM) and overall survival (OS) at the onset of acute graft-versus-host disease (GVHD) ...

    Abstract The Endothelial Activation and Stress Index (EASIX) is a prognostic tool that uses common clinical laboratory values and has been shown to predict non-relapse mortality (NRM) and overall survival (OS) at the onset of acute graft-versus-host disease (GVHD) after allogeneic hematopoietic cell transplantation (HCT). We hypothesized that EASIX calculated at different time points pre- and post- HCT may predict NRM and OS, and that EASIX calculated at onset of GVHD may predict response to steroids. We evaluated the EASIX score pre- and post-HCT in 152 patients with lymphoid malignancies undergoing unmodified reduced intensity conditioning (RIC) alloHCT with uniform GVHD prophylaxis. In multivariate analysis, EASIX calculated pre-HCT was significantly associated with higher NRM (HR = 1.64, p = 0.009) and lower OS (HR = 1.33, p = 0.046). Furthermore, EASIX calculated at day 30 and at day 100 was associated with increased NRM (HR = 1.65, p < 0.001; and HR = 1.65, p < 0.001) and decreased OS (HR = 1.27, p = 0.018; and HR = 1.49, p < 0.001), independent of HCT-CI, disease and conditioning regimen. Our study shows that high EASIX scores at various time points pre- and post-HCT are significantly associated with poorer overall outcomes. EASIX provides an independent and easily accessible tool to predict outcomes that can be complementary to other measures of risk stratification for patients undergoing HCT.
    MeSH term(s) Humans ; Transplantation, Homologous ; Hematopoietic Stem Cell Transplantation ; Graft vs Host Disease ; Prognosis ; Transplantation Conditioning ; Retrospective Studies
    Language English
    Publishing date 2023-01-31
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 632854-4
    ISSN 1476-5365 ; 0268-3369 ; 0951-3078
    ISSN (online) 1476-5365
    ISSN 0268-3369 ; 0951-3078
    DOI 10.1038/s41409-023-01922-8
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Book ; Online: Cited But Not Archived

    Escamilla, Emily / Klein, Martin / Cooper, Talya / Rampin, Vicky / Weigle, Michele C. / Nelson, Michael L.

    Analyzing the Status of Code References in Scholarly Articles

    2024  

    Abstract: One in five arXiv articles published in 2021 contained a URI to a Git Hosting Platform (GHP), which demonstrates the growing prevalence of GHP URIs in scholarly publications. However, GHP URIs are vulnerable to the same reference rot that plagues the Web ...

    Abstract One in five arXiv articles published in 2021 contained a URI to a Git Hosting Platform (GHP), which demonstrates the growing prevalence of GHP URIs in scholarly publications. However, GHP URIs are vulnerable to the same reference rot that plagues the Web at large. The disappearance of software hosting platforms, like Gitorious and Google Code, and the source code they contain threatens research reproducibility. Archiving the source code and development history available in GHPs enables the long-term reproducibility of research. Software Heritage and Web archives contain archives of GHP URI resources. However, are the GHP URIs referenced by scholarly publications contained within the Software Heritage and Web archive collections? We analyzed a dataset of GHP URIs extracted from scholarly publications to determine (1) is the URI still publicly available on the live Web?, (2) has the URI been archived by Software Heritage?, and (3) has the URI been archived by Web archives? Of all GHP URIs, we found that 93.98% were still publicly available on the live Web, 68.39% had been archived by Software Heritage, and 81.43% had been archived by Web archives.
    Keywords Computer Science - Digital Libraries
    Subject code 070
    Publishing date 2024-01-09
    Publishing country us
    Document type Book ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  4. Article ; Online: Adolescents' Willingness to Commit to Safe Use and Disposal of Prescription Opioids.

    Arora, Sanjay / Grewal, Sahib / Escamilla, Diandra / Menchine, Michael

    Substance use & misuse

    2020  Volume 55, Issue 6, Page(s) 1031–1033

    Abstract: Introduction and aims: ...

    Abstract Introduction and aims:
    MeSH term(s) Adolescent ; Analgesics, Opioid ; Attitude ; Humans ; Opioid-Related Disorders/prevention & control ; Prescription Drug Misuse/prevention & control ; Prescriptions ; Prospective Studies ; Surveys and Questionnaires
    Chemical Substances Analgesics, Opioid
    Language English
    Publishing date 2020-01-08
    Publishing country England
    Document type Journal Article
    ZDB-ID 1310358-1
    ISSN 1532-2491 ; 1082-6084
    ISSN (online) 1532-2491
    ISSN 1082-6084
    DOI 10.1080/10826084.2019.1710208
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Prognosis of a second clinical event from baseline MRI in patients with a CIS: a multicenter study using a machine learning approach.

    Pareto, Deborah / Garcia-Vidal, Aran / Groppa, Sergiu / Gonzalez-Escamilla, Gabriel / Rocca, Mara / Filippi, Massimo / Enzinger, Christian / Khalil, Michael / Llufriu, Sara / Tintoré, Mar / Sastre-Garriga, Jaume / Rovira, Àlex

    Neuroradiology

    2022  Volume 64, Issue 7, Page(s) 1383–1390

    Abstract: Purpose: To predict the occurrence of a second clinical event in patients with a CIS suggestive of MS, from baseline magnetic resonance imaging (MRI), by means of a pattern recognition approach.: Methods: Two hundred sixty-six patients with a CIS ... ...

    Abstract Purpose: To predict the occurrence of a second clinical event in patients with a CIS suggestive of MS, from baseline magnetic resonance imaging (MRI), by means of a pattern recognition approach.
    Methods: Two hundred sixty-six patients with a CIS were recruited from four participating centers. Over a follow-up of 3 years, 130 patients had a second clinical episode and 136 did not. Grey matter and white matter T1-hypointensities masks segmented from 3D T1-weighted images acquired on 3 T scanners were used as features for the classification approach. Differences between CIS that remained CIS and those that developed a second event were assessed at a global level and at a regional level, arranging the regions according to their contribution to the classification model.
    Results: All classification metrics were around or even below 50% for both global and regional approaches. Accuracies did not change when T1-hypointensity maps were added to the model; just the specificity was increased up to 80%. Among the 30 regions with the largest contribution, 26 were grey matter and 4 were white matter regions. For grey matter, regions contributing showed either a larger or a smaller volume in the group of patients that remained CIS, compared to those with a second event. The volume of T1-hypointensities was always larger for the group that presented a second event.
    Conclusions: Prediction of a second clinical event in CIS patients from baseline MRI seems to present a highly heterogeneous pattern, leading to very low classification accuracies. Adding the T1-hypointensity maps does not seem to improve the accuracy of the classification model.
    MeSH term(s) Brain/diagnostic imaging ; Brain/pathology ; Gray Matter/diagnostic imaging ; Gray Matter/pathology ; Humans ; Machine Learning ; Magnetic Resonance Imaging/methods ; Multiple Sclerosis/pathology ; Prognosis
    Language English
    Publishing date 2022-01-20
    Publishing country Germany
    Document type Journal Article ; Multicenter Study
    ZDB-ID 123305-1
    ISSN 1432-1920 ; 0028-3940
    ISSN (online) 1432-1920
    ISSN 0028-3940
    DOI 10.1007/s00234-021-02885-7
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Effect of subchronic exposure to ambient fine and ultrafine particles on rat motor activity and

    Andrade-Oliva, María-de-Los-Angeles / Debray-García, Yazmín / Morales-Figueroa, Guadalupe-Elide / Escamilla-Sánchez, Juan / Amador-Muñoz, Omar / Díaz-Godoy, Raúl V / Kleinman, Michael / Florán, Benjamín / Arias-Montaño, José-Antonio / De Vizcaya-Ruiz, Andrea

    Inhalation toxicology

    2022  Volume 35, Issue 1-2, Page(s) 1–13

    Abstract: Alterations in dopaminergic transmission are associated with neurological disorders, such as depression, autism, and Parkinson's disease. Exposure of rats to ambient fine (FP) or ultrafine (UFP) particles induces oxidative and inflammatory responses in ... ...

    Abstract Alterations in dopaminergic transmission are associated with neurological disorders, such as depression, autism, and Parkinson's disease. Exposure of rats to ambient fine (FP) or ultrafine (UFP) particles induces oxidative and inflammatory responses in the striatum, a neuronal nucleus with dense dopaminergic innervation and critically involved in the control of motor activity.
    MeSH term(s) Rats ; Male ; Animals ; Particulate Matter/toxicity ; Particle Size ; Dopamine ; Rats, Wistar ; Motor Activity ; Air Pollutants/toxicity
    Chemical Substances Particulate Matter ; Dopamine (VTD58H1Z2X) ; Air Pollutants
    Language English
    Publishing date 2022-11-03
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1038809-6
    ISSN 1091-7691 ; 0895-8378
    ISSN (online) 1091-7691
    ISSN 0895-8378
    DOI 10.1080/08958378.2022.2140228
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Dynamic EASIX scores closely predict nonrelapse mortality after allogeneic hematopoietic cell transplantation.

    Nawas, Mariam T / Sanchez-Escamilla, Miriam / Devlin, Sean M / Maloy, Molly A / Ruiz, Josel D / Sauter, Craig S / Giralt, Sergio A / Perales, Miguel-Angel / Scordo, Michael

    Blood advances

    2022  Volume 6, Issue 22, Page(s) 5898–5907

    Abstract: Endothelial activation and stress index (EASIX) predicts nonrelapse mortality (NRM) when assessed before hematopoietic cell transplantation (HCT). We sought to determine whether changes in EASIX after HCT may be an informative marker of NRM. We evaluated ...

    Abstract Endothelial activation and stress index (EASIX) predicts nonrelapse mortality (NRM) when assessed before hematopoietic cell transplantation (HCT). We sought to determine whether changes in EASIX after HCT may be an informative marker of NRM. We evaluated 509 adults who underwent reduced intensity, unmodified (N = 149, 29%), or myeloablative ex vivo CD34+-selected allogeneic HCT (allo-HCT) (N = 306, 71%) between 2008 and 2016. Patients who underwent unmodified allo-HCT received tacrolimus-based graft-versus-host disease (GVHD) prophylaxis, whereas CD34+-selected patients received no planned immunosuppression. EASIX (lactate dehydrogenase × creatinine/platelet count) was calculated continuously until 1-year after HCT. Log transformation using base 2 (log2) was applied to all EASIX variables to reduce skew. In total, 360 patients (71%) received CD34+-selected and 149 (29%) unmodified allo-HCT. Among all patients, EASIX scores increased rapidly, peaked at day +8, then declined rapidly until day +33. Thereafter, scores declined gradually but remained above the pre-HCT baseline. In unmodified HCT, scores appeared higher over time than in CD34+-selected patients. EASIX discrimination of NRM was highest around day +180 (concordance index = 0.85) in both platforms, but the prognostic impact of EASIX across time points differed between the 2 platforms. Mean EASIX scores were higher in men (mean log2 +0.52) and in patients who developed grade 2 to 4 GVHD (+0.81) and lower in patients who received matched vs mismatched donors (-0.81, all P < .01). EASIX scores are dynamic and variably concordant with NRM when analyzed longitudinally, and patterns differ between HCT platforms. Compared to pre-HCT evaluation, post-HCT EASIX scores may better predict risk of NRM as patients acquire additional endothelial injury and toxicities.
    MeSH term(s) Adult ; Male ; Humans ; Graft vs Host Disease/diagnosis ; Graft vs Host Disease/etiology ; Transplantation, Homologous/adverse effects ; Survival Analysis ; Hematopoietic Stem Cell Transplantation/adverse effects ; Antigens, CD34
    Chemical Substances Antigens, CD34
    Language English
    Publishing date 2022-08-17
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2915908-8
    ISSN 2473-9537 ; 2473-9529
    ISSN (online) 2473-9537
    ISSN 2473-9529
    DOI 10.1182/bloodadvances.2022007381
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Altered grey matter integrity and network vulnerability relate to epilepsy occurrence in patients with multiple sclerosis.

    Ciolac, Dumitru / Gonzalez-Escamilla, Gabriel / Winter, Yaroslav / Melzer, Nico / Luessi, Felix / Radetz, Angela / Fleischer, Vinzenz / Groppa, Stanislav A / Kirsch, Michael / Bittner, Stefan / Zipp, Frauke / Muthuraman, Muthuraman / Meuth, Sven G / Grothe, Matthias / Groppa, Sergiu

    European journal of neurology

    2022  Volume 29, Issue 8, Page(s) 2309–2320

    Abstract: Background and purpose: The aim of this study was to investigate the relevance of compartmentalized grey matter (GM) pathology and network reorganization in multiple sclerosis (MS) patients with concomitant epilepsy.: Methods: From 3-T magnetic ... ...

    Abstract Background and purpose: The aim of this study was to investigate the relevance of compartmentalized grey matter (GM) pathology and network reorganization in multiple sclerosis (MS) patients with concomitant epilepsy.
    Methods: From 3-T magnetic resonance imaging scans of 30 MS patients with epilepsy (MSE group; age 41 ± 15 years, 21 females, disease duration 8 ± 6 years, median Expanded Disability Status Scale [EDSS] score 3), 60 MS patients without epilepsy (MS group; age 41 ± 12 years, 35 females, disease duration 6 ± 4 years, EDSS score 2), and 60 healthy subjects (HS group; age 40 ± 13 years, 27 females) the regional volumes of GM lesions and of cortical, subcortical and hippocampal structures were quantified. Network topology and vulnerability were modelled within the graph theoretical framework. Receiver-operating characteristic (ROC) curve analysis was applied to assess the accuracy of GM pathology measures to discriminate between MSE and MS patients.
    Results: Higher lesion volumes within the hippocampus, mesiotemporal cortex and amygdala were detected in the MSE compared to the MS group (all p < 0.05). The MSE group had lower cortical volumes mainly in temporal and parietal areas compared to the MS and HS groups (all p < 0.05). Lower hippocampal tail and presubiculum volumes were identified in both the MSE and MS groups compared to the HS group (all p < 0.05). Network topology in the MSE group was characterized by higher transitivity and assortativity, and higher vulnerability compared to the MS and HS groups (all p < 0.05). Hippocampal lesion volume yielded the highest accuracy (area under the ROC curve 0.80 [0.67-0.91]) in discriminating between MSE and MS patients.
    Conclusions: High lesion load, altered integrity of mesiotemporal GM structures, and network reorganization are associated with a greater propensity for epilepsy occurrence in people with MS.
    MeSH term(s) Adult ; Brain/diagnostic imaging ; Brain/pathology ; Epilepsy/pathology ; Female ; Gray Matter/diagnostic imaging ; Gray Matter/pathology ; Hippocampus/diagnostic imaging ; Hippocampus/pathology ; Humans ; Magnetic Resonance Imaging/methods ; Middle Aged ; Multiple Sclerosis/complications ; Multiple Sclerosis/diagnostic imaging ; Multiple Sclerosis/pathology
    Language English
    Publishing date 2022-06-05
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1280785-0
    ISSN 1468-1331 ; 1351-5101 ; 1471-0552
    ISSN (online) 1468-1331
    ISSN 1351-5101 ; 1471-0552
    DOI 10.1111/ene.15405
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article: Application of the Adaptive Cycle and Panarchy in La Marjaleria Social-Ecological System: Reflections for Operability

    Escamilla Nacher, Marc / Ferreira, Carla Sofia Santos / Jones, Michael / Kalantari, Zahra

    Land. 2021 Sept. 17, v. 10, no. 9

    2021  

    Abstract: The adaptive cycle and panarchy are recognised tools for resilience assessment prior to establishing new management approaches aligned with Anthropocene needs. This study used the adaptive cycle and panarchy to assess the dynamics of the social- ... ...

    Abstract The adaptive cycle and panarchy are recognised tools for resilience assessment prior to establishing new management approaches aligned with Anthropocene needs. This study used the adaptive cycle and panarchy to assess the dynamics of the social-ecological system (SES) of La Marjaleria, Spain, which experienced increasing human pressure and environmental degradation in recent decades, and developed the ‘adaptive curve’ as a novel graphical representation of system change in the presentation of the results. Based on a literature review of historical changes in La Marjaleria, a SES analysis was performed using the adaptive cycle and panarchy, following the Resilience Alliance’s Practitioners Guide. The assessment offered new insights into the social and ecological dynamics of La Marjaleria through identification of causes and consequences from a complex systems perspective. Previous land-use management in the area has generated tensions between different stakeholders and reduced environmental resilience. The systems thinking approach highlighted the complexity of change processes, offering the possibility of new routes for dialogue and understanding. The ‘adaptive curve’ developed as a method of illustrating interactions across scales in this study could be useful for synthesising the results of a panarchy analysis and supporting their interpretation, offering relevant departure points for future planning and decision-making.
    Keywords Anthropocene epoch ; decision making ; environmental degradation ; humans ; land ; stakeholders ; Spain
    Language English
    Dates of publication 2021-0917
    Publishing place Multidisciplinary Digital Publishing Institute
    Document type Article
    ZDB-ID 2682955-1
    ISSN 2073-445X
    ISSN 2073-445X
    DOI 10.3390/land10090980
    Database NAL-Catalogue (AGRICOLA)

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  10. Article ; Online: Using The Virtual Brain to study the relationship between structural and functional connectivity in patients with multiple sclerosis: a multicenter study.

    Martí-Juan, Gerard / Sastre-Garriga, Jaume / Martinez-Heras, Eloy / Vidal-Jordana, Angela / Llufriu, Sara / Groppa, Sergiu / Gonzalez-Escamilla, Gabriel / Rocca, Maria A / Filippi, Massimo / Høgestøl, Einar A / Harbo, Hanne F / Foster, Michael A / Toosy, Ahmed T / Schoonheim, Menno M / Tewarie, Prejaas / Pontillo, Giuseppe / Petracca, Maria / Rovira, Àlex / Deco, Gustavo /
    Pareto, Deborah

    Cerebral cortex (New York, N.Y. : 1991)

    2023  Volume 33, Issue 12, Page(s) 7322–7334

    Abstract: The relationship between structural connectivity (SC) and functional connectivity (FC) captured from magnetic resonance imaging, as well as its interaction with disability and cognitive impairment, is not well understood in people with multiple sclerosis ...

    Abstract The relationship between structural connectivity (SC) and functional connectivity (FC) captured from magnetic resonance imaging, as well as its interaction with disability and cognitive impairment, is not well understood in people with multiple sclerosis (pwMS). The Virtual Brain (TVB) is an open-source brain simulator for creating personalized brain models using SC and FC. The aim of this study was to explore SC-FC relationship in MS using TVB. Two different model regimes have been studied: stable and oscillatory, with the latter including conduction delays in the brain. The models were applied to 513 pwMS and 208 healthy controls (HC) from 7 different centers. Models were analyzed using structural damage, global diffusion properties, clinical disability, cognitive scores, and graph-derived metrics from both simulated and empirical FC. For the stable model, higher SC-FC coupling was associated with pwMS with low Single Digit Modalities Test (SDMT) score (F=3.48, P$\lt$0.05), suggesting that cognitive impairment in pwMS is associated with a higher SC-FC coupling. Differences in entropy of the simulated FC between HC, high and low SDMT groups (F=31.57, P$\lt$1e-5), show that the model captures subtle differences not detected in the empirical FC, suggesting the existence of compensatory and maladaptive mechanisms between SC and FC in MS.
    MeSH term(s) Humans ; Multiple Sclerosis/diagnostic imaging ; Multiple Sclerosis/pathology ; Brain ; Magnetic Resonance Imaging/methods ; Brain Mapping/methods ; Cognitive Dysfunction/diagnostic imaging ; Cognitive Dysfunction/etiology ; Cognitive Dysfunction/pathology
    Language English
    Publishing date 2023-02-22
    Publishing country United States
    Document type Multicenter Study ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1077450-6
    ISSN 1460-2199 ; 1047-3211
    ISSN (online) 1460-2199
    ISSN 1047-3211
    DOI 10.1093/cercor/bhad041
    Database MEDical Literature Analysis and Retrieval System OnLINE

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