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1. Genomic analysis of the MLST population structure and antimicrobial resistance genes associated with Salmonella enterica in Mexico

Author

Gomez-Baltazar, Adrian, Godinez-Oviedo, Angelica, Marrufo, Gerardo Vazquez, Vazquez-Garciduenas, Ma. Soledad, and Hernandez-Iturriaga, Montserrat

Subjects
Company distribution practices, Drug resistance in microorganisms -- Genetic aspects, Salmonella food poisoning -- Causes of, Salmonella -- Identification and classification -- Genetic aspects -- Distribution
Abstract

Salmonella enterica is one of the most commonly reported foodborne pathogens by public health agencies worldwide. In this study, the multilocus sequence typing (MLST) population structure and frequency of antimicrobial resistance (AMR) genes were evaluated in S. enterica strains from Mexico (n = 2561). The most common sources of isolation were food (44.28%), environment (27.41%), animal-related (24.83%), and human (3.48%). The most prevalent serovars were Newport (8.51%), Oranienburg (7.03%), Anatum (5.78%), Typhimurium (5.12%), and Infantis (4.57%). As determined by the 7-gene MLST scheme, the most frequent sequence types were ST23, ST64, and ST32. The core genome MLST scheme identified 132 HC2000 and 195 HC900 hierarchical clusters, with the HC2000_2 cluster being the most prevalent in Mexico (n = 256). A total of 78 diferent AMR genes belonging to 13 antimicrobial classes were detected in 638 genomic assemblies of S. enterica. The most frequent class was aminoglycosides (31.76%), followed by tetracyclines (12.53%) and sulfonamides (11.91%). These results can help public health agencies in Mexico prioritize their eforts and resources to increase the genomic sequencing of circulating Salmonella strains. Additionally, they provide valuable information for local and global public health eforts to reduce the impact of foodborne diseases and AMR. Key words: Salmonella, antimicrobial resistance genes, MLST, epidemiology, genomics, 1. Introduction Salmonella enterica is one of the primary pathogens causing foodborne diseases, which impact considerable morbidity, mortality, and economic costs worldwide, thus representing a tremendous global public health problem [...]

Published
2023
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2. Intracranial mesenchymal tumors with FET‐CREB fusion are composed of at least two epigenetic subgroups distinct from meningioma and extracranial sarcomas

Author

Sloan, Emily A, Gupta, Rohit, Koelsche, Christian, Chiang, Jason, Villanueva‐Meyer, Javier E, Alexandrescu, Sanda, Eschbacher, Jennifer M, Wang, Wesley, Mafra, Manuela, Din, Nasir Ud, Carr‐Boyd, Emily, Watson, Michael, Punsoni, Michael, Oviedo, Angelica, Gilani, Ahmed, Kleinschmidt‐DeMasters, Bette K, Coss, Dylan J, Lopes, M Beatriz, Reddy, Alyssa, Mueller, Sabine, Cho, Soo‐Jin, Horvai, Andrew E, Lee, Julieann C, Pekmezci, Melike, Tihan, Tarik, Bollen, Andrew W, Rodriguez, Fausto J, Ellison, David W, Perry, Arie, von Deimling, Andreas, Chang, Susan M, Berger, Mitchel S, and Solomon, David A

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Cancer, Rare Diseases, Genetics, Human Genome, Pediatric, Neurosciences, Cancer Genomics, Brain Disorders, Adolescent, Adult, Biomarkers, Tumor, Brain Neoplasms, Child, Child, Preschool, Epigenesis, Genetic, Epigenomics, Hemangioma, Histiocytoma, Malignant Fibrous, Humans, Meningeal Neoplasms, Meningioma, Oncogene Proteins, Fusion, RNA-Binding Protein EWS, Soft Tissue Neoplasms, Young Adult, angiomatoid fibrous histiocytoma, ATF1, brain tumor, clear cell sarcoma, CREB1, CREM, EWSR1, intracranial mesenchymal tumor with FET-CREB fusion, intracranial myxoid mesenchymal tumor, molecular neuropathology, sarcoma, Clinical Sciences, Neurology & Neurosurgery, Clinical sciences
Abstract

'Intracranial mesenchymal tumor, FET-CREB fusion-positive' occurs primarily in children and young adults and has previously been termed intracranial angiomatoid fibrous histiocytoma (AFH) or intracranial myxoid mesenchymal tumor (IMMT). Here we performed genome-wide DNA methylation array profiling of 20 primary intracranial mesenchymal tumors with FET-CREB fusion to further study their ontology. These tumors resolved into two distinct epigenetic subgroups that were both divergent from all other analyzed intracranial neoplasms and soft tissue sarcomas, including meningioma, clear cell sarcoma of soft tissue (CCS), and AFH of extracranial soft tissue. The first subgroup (Group A, 16 tumors) clustered nearest to but independent of solitary fibrous tumor and AFH of extracranial soft tissue, whereas the second epigenetic subgroup (Group B, 4 tumors) clustered nearest to but independent of CCS and also lacked expression of melanocytic markers (HMB45, Melan A, or MITF) characteristic of CCS. Group A tumors most often occurred in adolescence or early adulthood, arose throughout the neuroaxis, and contained mostly EWSR1-ATF1 and EWSR1-CREB1 fusions. Group B tumors arose most often in early childhood, were located along the cerebral convexities or spinal cord, and demonstrated an enrichment for tumors with CREM as the fusion partner (either EWSR1-CREM or FUS-CREM). Group A tumors more often demonstrated stellate/spindle cell morphology and hemangioma-like vasculature, whereas Group B tumors more often demonstrated round cell or epithelioid/rhabdoid morphology without hemangioma-like vasculature, although robust comparison of these clinical and histologic features requires future study. Patients with Group B tumors had inferior progression-free survival relative to Group A tumors (median 4.5 vs. 49 months, p = 0.001). Together, these findings confirm that intracranial AFH-like neoplasms and IMMT represent histologic variants of a single tumor type ('intracranial mesenchymal tumor, FET-CREB fusion-positive') that is distinct from meningioma and extracranial sarcomas. Additionally, epigenomic evaluation may provide important prognostic subtyping for this unique tumor entity.

Published
2022

4. Intracranial mesenchymal tumor with FET-CREB fusion-A unifying diagnosis for the spectrum of intracranial myxoid mesenchymal tumors and angiomatoid fibrous histiocytoma-like neoplasms.

Author

Sloan, Emily A, Chiang, Jason, Villanueva-Meyer, Javier E, Alexandrescu, Sanda, Eschbacher, Jennifer M, Wang, Wesley, Mafra, Manuela, Ud Din, Nasir, Carr-Boyd, Emily, Watson, Michael, Punsoni, Michael, Oviedo, Angelica, Gilani, Ahmed, Kleinschmidt-DeMasters, Bette K, Coss, Dylan J, Lopes, M Beatriz, Raffel, Corey, Berger, Mitchel S, Chang, Susan M, Reddy, Alyssa, Ramani, Biswarathan, Ferris, Sean P, Lee, Julieann C, Hofmann, Jeffrey W, Cho, Soo-Jin, Horvai, Andrew E, Pekmezci, Melike, Tihan, Tarik, Bollen, Andrew W, Rodriguez, Fausto J, Ellison, David W, Perry, Arie, and Solomon, David A

Subjects
CREB, EWSR1, angiomatoid fibrous histiocytoma, brain tumor, intracranial myxoid mesenchymal tumor, molecular neuropathology, sarcoma, Neurology & Neurosurgery, Clinical Sciences, Neurosciences
Abstract

Intracranial mesenchymal tumors with FET-CREB fusions are a recently described group of neoplasms in children and young adults characterized by fusion of a FET family gene (usually EWSR1, but rarely FUS) to a CREB family transcription factor (ATF1, CREB1, or CREM), and have been variously termed intracranial angiomatoid fibrous histiocytoma or intracranial myxoid mesenchymal tumor. The clinical outcomes, histologic features, and genomic landscape are not well defined. Here, we studied 20 patients with intracranial mesenchymal tumors proven to harbor FET-CREB fusion by next-generation sequencing (NGS). The 16 female and four male patients had a median age of 14 years (range 4-70). Tumors were uniformly extra-axial or intraventricular and located at the cerebral convexities (n = 7), falx (2), lateral ventricles (4), tentorium (2), cerebellopontine angle (4), and spinal cord (1). NGS demonstrated that eight tumors harbored EWSR1-ATF1 fusion, seven had EWSR1-CREB1, four had EWSR1-CREM, and one had FUS-CREM. Tumors were uniformly well circumscribed and typically contrast enhancing with solid and cystic growth. Tumors with EWSR1-CREB1 fusions more often featured stellate/spindle cell morphology, mucin-rich stroma, and hemangioma-like vasculature compared to tumors with EWSR1-ATF1 fusions that most often featured sheets of epithelioid cells with mucin-poor collagenous stroma. These tumors demonstrated polyphenotypic immunoprofiles with frequent positivity for desmin, EMA, CD99, MUC4, and synaptophysin, but absence of SSTR2A, myogenin, and HMB45 expression. There was a propensity for local recurrence with a median progression-free survival of 12 months and a median overall survival of greater than 60 months, with three patients succumbing to disease (all with EWSR1-ATF1 fusions). In combination with prior case series, this study provides further insight into intracranial mesenchymal tumors with FET-CREB fusion, which represent a distinct group of CNS tumors encompassing both intracranial myxoid mesenchymal tumor and angiomatoid fibrous histiocytoma-like neoplasms.

Published
2021

10. Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

Author

Enns, Gregory M, Shashi, Vandana, Bainbridge, Matthew, Gambello, Michael J, Zahir, Farah R, Bast, Thomas, Crimian, Rebecca, Schoch, Kelly, Platt, Julia, Cox, Rachel, Bernstein, Jonathan A, Scavina, Mena, Walter, Rhonda S, Bibb, Audrey, Jones, Melanie, Hegde, Madhuri, Graham, Brett H, Need, Anna C, Oviedo, Angelica, Schaaf, Christian P, Boyle, Sean, Butte, Atul J, Chen, Rong, Clark, Michael J, Haraksingh, Rajini, Cowan, Tina M, He, Ping, Langlois, Sylvie, Zoghbi, Huda Y, Snyder, Michael, Gibbs, Richard A, Freeze, Hudson H, and Goldstein, David B

Subjects
Rare Diseases, Human Genome, Clinical Research, Brain Disorders, Pediatric, Congenital Structural Anomalies, Digestive Diseases, Genetics, Liver Disease, 2.1 Biological and endogenous factors, Aetiology, Abnormalities, Multiple, Adolescent, Child, Preschool, Developmental Disabilities, Endoplasmic Reticulum-Associated Degradation, Exome, Family Health, Fatal Outcome, Female, Genome-Wide Association Study, Humans, Infant, Male, Microcephaly, Movement Disorders, Muscle Hypotonia, Mutation, Pedigree, Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase, Retrospective Studies, Seizures, Sequence Analysis, DNA, Signal Transduction, Young Adult, alacrima, choreoathetosis, liver disease, NGLY1, seizures, FORGE Canada Consortium, Clinical Sciences, Genetics & Heredity
Abstract

PurposeThe endoplasmic reticulum-associated degradation pathway is responsible for the translocation of misfolded proteins across the endoplasmic reticulum membrane into the cytosol for subsequent degradation by the proteasome. To define the phenotype associated with a novel inherited disorder of cytosolic endoplasmic reticulum-associated degradation pathway dysfunction, we studied a series of eight patients with deficiency of N-glycanase 1.MethodsWhole-genome, whole-exome, or standard Sanger sequencing techniques were employed. Retrospective chart reviews were performed in order to obtain clinical data.ResultsAll patients had global developmental delay, a movement disorder, and hypotonia. Other common findings included hypolacrima or alacrima (7/8), elevated liver transaminases (6/7), microcephaly (6/8), diminished reflexes (6/8), hepatocyte cytoplasmic storage material or vacuolization (5/6), and seizures (4/8). The nonsense mutation c.1201A>T (p.R401X) was the most common deleterious allele.ConclusionNGLY1 deficiency is a novel autosomal recessive disorder of the endoplasmic reticulum-associated degradation pathway associated with neurological dysfunction, abnormal tear production, and liver disease. The majority of patients detected to date carry a specific nonsense mutation that appears to be associated with severe disease. The phenotypic spectrum is likely to enlarge as cases with a broader range of mutations are detected.

Published
2014

19. Placental Tissue Destruction and Insufficiency From COVID-19 Causes Stillbirth and Neonatal Death From Hypoxic-Ischemic Injury : A Study of 68 Cases With SARS-CoV-2 Placentitis From 12 Countries

Author

Schwartz, David A., Avvad-Portari, Elyzabeth, Babal, Pavel, Baldewijns, Marcella, Blomberg, Marie, Bouachba, Amine, Camacho, Jessica, Collardeau-Frachon, Sophie, Colson, Arthur, Dehaene, Isabelle, Carles Ferreres, Joan, Fitzgerald, Brendan, Garrido-Pontnou, Marta, Gergis, Hazem, Hargitai, Beata, Cecilia Helguera-Repetto, A., Holmström, Sandra, Liliane Irles, Claudine, Leijonhfvud, Åsa, Libbrecht, Sasha, Marton, Tamas, McEntagart, Noel, Molina, James T., Morotti, Raffaella, Nadal, Alfons, Navarro, Alexandra, Nelander, Maria, Oviedo, Angelica, Oyamada Otani, Andre Ricardo, Papadogiannakis, Nikos, Petersen, Astrid C., Roberts, Drucilla J., Saad, Ali G., Sand, Anna, Schoenmakers, Sam, Sehn, Jennifer K., Simpson, Preston R., Thomas, Kristen, Yolotzin Valdespino-Vazquez, M., van der Meeren, Lotte E., Van Dorpe, Jo, Verdijk, Robert M., Watkins, Jaclyn C., Zaigham, Mehreen, Schwartz, David A., Avvad-Portari, Elyzabeth, Babal, Pavel, Baldewijns, Marcella, Blomberg, Marie, Bouachba, Amine, Camacho, Jessica, Collardeau-Frachon, Sophie, Colson, Arthur, Dehaene, Isabelle, Carles Ferreres, Joan, Fitzgerald, Brendan, Garrido-Pontnou, Marta, Gergis, Hazem, Hargitai, Beata, Cecilia Helguera-Repetto, A., Holmström, Sandra, Liliane Irles, Claudine, Leijonhfvud, Åsa, Libbrecht, Sasha, Marton, Tamas, McEntagart, Noel, Molina, James T., Morotti, Raffaella, Nadal, Alfons, Navarro, Alexandra, Nelander, Maria, Oviedo, Angelica, Oyamada Otani, Andre Ricardo, Papadogiannakis, Nikos, Petersen, Astrid C., Roberts, Drucilla J., Saad, Ali G., Sand, Anna, Schoenmakers, Sam, Sehn, Jennifer K., Simpson, Preston R., Thomas, Kristen, Yolotzin Valdespino-Vazquez, M., van der Meeren, Lotte E., Van Dorpe, Jo, Verdijk, Robert M., Watkins, Jaclyn C., and Zaigham, Mehreen

Abstract

Context: Perinatal death is an increasingly important problem as the coronavirus disease 2019 (COVID-19) pandemic continues, but the mechanism of death has been unclear. Objective: To evaluate the role of the placenta in causing stillbirth and neonatal death following maternal infection with COVID-19 and confirmed placental positivity for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Design: Case-based retrospective clinicopathologic analysis by a multinational group of 44 perinatal specialists from 12 countries of placental and autopsy pathology findings from 64 stillborns and 4 neonatal deaths having placentas testing positive for SARS-CoV-2 following delivery to mothers with COVID-19. Results: Of the 3 findings constituting SARS-CoV-2 placentitis, all 68 placentas had increased fibrin deposition and villous trophoblast necrosis and 66 had chronic histiocytic intervillositis. Sixty-three placentas had massive perivillous fibrin deposition. Severe destructive placental disease from SARS-CoV-2 placentitis averaged 77.7% tissue involvement. Other findings included multiple intervillous thrombi (37%; 25 of 68) and chronic villitis (32%; 22 of 68). The majority (19; 63%) of the 30 autopsies revealed no significant fetal abnormalities except for intrauterine hypoxia and asphyxia. Among all 68 cases, SARS-CoV-2 was detected from a body specimen in 16 of 28 cases tested, most frequently from nasopharyngeal swabs. Four autopsied stillborns had SARS-CoV-2 identified in internal organs. Conclusions: The pathology abnormalities composing SARS-CoV-2 placentitis cause widespread and severe placental destruction resulting in placental malperfusion and insufficiency. In these cases, intrauterine and perinatal death likely results directly from placental insufficiency and fetal hypoxic-ischemic injury. There was no evidence that SARS-CoV-2 involvement of the fetus had a role in causing these deaths.

Published
2022
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20. Placental Tissue Destruction and Insufficiency From COVID-19 Causes Stillbirth and Neonatal Death From Hypoxic-Ischemic Injury:A Study of 68 Cases With SARS-CoV-2 Placentitis From 12 Countries

Author

Schwartz, David A., Avvad-Portari, Elyzabeth, Babal, Pavel, Baldewijns, Marcella, Blomberg, Marie, Bouachba, Amine, Camacho, Jessica, Collardeau-Frachon, Sophie, Colson, Arthur, Dehaene, Isabelle, Ferreres, Joan Carles, Fitzgerald, Brendan, Garrido-Pontnou, Marta, Gergis, Hazem, Hargitai, Beata, Cecilia Helguera-Repetto, A., Holmstrom, Sandra, Irles, Claudine Liliane, Leijonhfvud, Asa, Libbrecht, Sasha, Marton, Tamas, McEntagart, Noel, Molina, James T., Morotti, Raffaella, Nadal, Alfons, Navarro, Alexandra, Nelander, Maria, Oviedo, Angelica, Otani, Andre Ricardo Oyamada, Papadogiannakis, Nikos, Petersen, Astrid C., Roberts, Drucilla J., Saad, Ali G., Sand, Anna, Schoenmakers, Sam, Sehn, Jennifer K., Simpson, Preston R., Thomas, Kristen, Yolotzin Valdespino-Vazquez, M., Van der Meeren, Lotte E., Van Dorpe, Jo, Verdijk, Robert M., Watkins, Jaclyn C., Zaigham, Mehreen, Schwartz, David A., Avvad-Portari, Elyzabeth, Babal, Pavel, Baldewijns, Marcella, Blomberg, Marie, Bouachba, Amine, Camacho, Jessica, Collardeau-Frachon, Sophie, Colson, Arthur, Dehaene, Isabelle, Ferreres, Joan Carles, Fitzgerald, Brendan, Garrido-Pontnou, Marta, Gergis, Hazem, Hargitai, Beata, Cecilia Helguera-Repetto, A., Holmstrom, Sandra, Irles, Claudine Liliane, Leijonhfvud, Asa, Libbrecht, Sasha, Marton, Tamas, McEntagart, Noel, Molina, James T., Morotti, Raffaella, Nadal, Alfons, Navarro, Alexandra, Nelander, Maria, Oviedo, Angelica, Otani, Andre Ricardo Oyamada, Papadogiannakis, Nikos, Petersen, Astrid C., Roberts, Drucilla J., Saad, Ali G., Sand, Anna, Schoenmakers, Sam, Sehn, Jennifer K., Simpson, Preston R., Thomas, Kristen, Yolotzin Valdespino-Vazquez, M., Van der Meeren, Lotte E., Van Dorpe, Jo, Verdijk, Robert M., Watkins, Jaclyn C., and Zaigham, Mehreen

Abstract

Context.-Perinatal death is an increasingly important problem as the coronavirus disease 2019 (COVID-19) pandemic continues, but the mechanism of death has been unclear. Objective.-To evaluate the role of the placenta in causing stillbirth and neonatal death following maternal infection with COVID-19 and confirmed placental positivity for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Design.-Case-based retrospective clinicopathologic analysis by a multinational group of 44 perinatal specialists from 12 countries of placental and autopsy pathology findings from 64 stillborns and 4 neonatal deaths having placentas testing positive for SARS-CoV-2 following delivery to mothers with COVID-19. Results.-Of the 3 findings constituting SARS-CoV-2 placentitis, all 68 placentas had increased fibrin deposition and villous trophoblast necrosis and 66 had chronic histiocytic intervillositis. Sixty-three placentas had massive perivillous fibrin deposition. Severe destructive placental disease from SARS-CoV-2 placentitis averaged 77.7% tissue involvement. Other findings included multiple intervillous thrombi (37%; 25 of 68) and chronic villitis (32%; 22 of 68). The majority (19; 63%) of the 30 autopsies revealed no significant fetal abnormalities except for intrauterine hypoxia and asphyxia. Among all 68 cases, SARS-CoV-2 was detected from a body specimen in 16 of 28 cases tested, most frequently from nasopharyngeal swabs. Four autopsied stillborns had SARS-CoV-2 identified in internal organs. Conclusions.-The pathology abnormalities composing SARS-CoV-2 placentitis cause widespread and severe placental destruction resulting in placental malperfusion and insufficiency. In these cases, intrauterine and perinatal death likely results directly from placental insufficiency and fetal hypoxic-ischemic injury. There was no evidence that SARS-CoV-2 involvement of the fetus had a role in causing these deaths.

Published
2022

21. Placental Tissue Destruction and Insufficiency from COVID-19 Causes Stillbirth and Neonatal Death from Hypoxic-Ischemic Injury: A Study of 68 Cases with SARS-CoV-2 Placentitis from 12 Countries

Author

Pathologie Pathologen staf, Schwartz, David A, Avvad-Portari, Elyzabeth, Babál, Pavel, Baldewijns, Marcella, Blomberg, Marie, Bouachba, Amine, Camacho, Jessica, Collardeau-Frachon, Sophie, Colson, Arthur, Dehaene, Isabelle, Ferreres, Joan Carles, Fitzgerald, Brendan, Garrido-Pontnou, Marta, Gerges, Hazem, Hargitai, Beata, Helguera-Repetto, A Cecilia, Holmström, Sandra, Irles, Claudine Liliane, Leijonhfvud, Åsa, Libbrecht, Sasha, Marton, Tamás, McEntagart, Noel, Molina, James T, Morotti, Raffaella, Nadal, Alfons, Navarro, Alexandra, Nelander, Maria, Oviedo, Angelica, Oyamada Otani, Andre Ricardo, Papadogiannakis, Nikos, Petersen, Astrid C, Roberts, Drucilla J, Saad, Ali G, Sand, Anna, Schoenmakers, Sam, Sehn, Jennifer K, Simpson, Preston R, Thomas, Kristen, Valdespino-Vázquez, M Yolotzin, van der Meeren, Lotte E, Van Dorpe, Jo, Verdijk, Robert M, Watkins, Jaclyn C, Zaigham, Mehreen, Pathologie Pathologen staf, Schwartz, David A, Avvad-Portari, Elyzabeth, Babál, Pavel, Baldewijns, Marcella, Blomberg, Marie, Bouachba, Amine, Camacho, Jessica, Collardeau-Frachon, Sophie, Colson, Arthur, Dehaene, Isabelle, Ferreres, Joan Carles, Fitzgerald, Brendan, Garrido-Pontnou, Marta, Gerges, Hazem, Hargitai, Beata, Helguera-Repetto, A Cecilia, Holmström, Sandra, Irles, Claudine Liliane, Leijonhfvud, Åsa, Libbrecht, Sasha, Marton, Tamás, McEntagart, Noel, Molina, James T, Morotti, Raffaella, Nadal, Alfons, Navarro, Alexandra, Nelander, Maria, Oviedo, Angelica, Oyamada Otani, Andre Ricardo, Papadogiannakis, Nikos, Petersen, Astrid C, Roberts, Drucilla J, Saad, Ali G, Sand, Anna, Schoenmakers, Sam, Sehn, Jennifer K, Simpson, Preston R, Thomas, Kristen, Valdespino-Vázquez, M Yolotzin, van der Meeren, Lotte E, Van Dorpe, Jo, Verdijk, Robert M, Watkins, Jaclyn C, and Zaigham, Mehreen

Published
2022

22. Placental Tissue Destruction and Insufficiency From COVID-19 Causes Stillbirth and Neonatal Death From Hypoxic-Ischemic Injury

Author

Schwartz, David A., primary, Avvad-Portari, Elyzabeth, additional, Babál, Pavel, additional, Baldewijns, Marcella, additional, Blomberg, Marie, additional, Bouachba, Amine, additional, Camacho, Jessica, additional, Collardeau-Frachon, Sophie, additional, Colson, Arthur, additional, Dehaene, Isabelle, additional, Ferreres, Joan Carles, additional, Fitzgerald, Brendan, additional, Garrido-Pontnou, Marta, additional, Gergis, Hazem, additional, Hargitai, Beata, additional, Helguera-Repetto, A. Cecilia, additional, Holmström, Sandra, additional, Irles, Claudine Liliane, additional, Leijonhfvud, Åsa, additional, Libbrecht, Sasha, additional, Marton, Tamás, additional, McEntagart, Noel, additional, Molina, James T., additional, Morotti, Raffaella, additional, Nadal, Alfons, additional, Navarro, Alexandra, additional, Nelander, Maria, additional, Oviedo, Angelica, additional, Otani, Andre Ricardo Oyamada, additional, Papadogiannakis, Nikos, additional, Petersen, Astrid C., additional, Roberts, Drucilla J., additional, Saad, Ali G., additional, Sand, Anna, additional, Schoenmakers, Sam, additional, Sehn, Jennifer K., additional, Simpson, Preston R., additional, Thomas, Kristen, additional, Valdespino-Vázquez, M. Yolotzin, additional, van der Meeren, Lotte E., additional, Van Dorpe, Jo, additional, Verdijk, Robert M., additional, Watkins, Jaclyn C., additional, and Zaigham, Mehreen, additional

Published
2022
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24. Intracranial mesenchymal tumors with FET‐CREB fusion are composed of at least two epigenetic subgroups distinct from meningioma and extracranial sarcomas

Author

Sloan, Emily A., primary, Gupta, Rohit, additional, Koelsche, Christian, additional, Chiang, Jason, additional, Villanueva‐Meyer, Javier E., additional, Alexandrescu, Sanda, additional, Eschbacher, Jennifer M., additional, Wang, Wesley, additional, Mafra, Manuela, additional, Ud Din, Nasir, additional, Carr‐Boyd, Emily, additional, Watson, Michael, additional, Punsoni, Michael, additional, Oviedo, Angelica, additional, Gilani, Ahmed, additional, Kleinschmidt‐DeMasters, Bette K., additional, Coss, Dylan J., additional, Lopes, M. Beatriz, additional, Reddy, Alyssa, additional, Mueller, Sabine, additional, Cho, Soo‐Jin, additional, Horvai, Andrew E., additional, Lee, Julieann C., additional, Pekmezci, Melike, additional, Tihan, Tarik, additional, Bollen, Andrew W., additional, Rodriguez, Fausto J., additional, Ellison, David W., additional, Perry, Arie, additional, von Deimling, Andreas, additional, Chang, Susan M., additional, Berger, Mitchel S., additional, and Solomon, David A., additional

Published
2021
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25. Clinical phenotypes and prognostic features of embryonal tumours with multi-layered rosettes: a Rare Brain Tumor Registry study

Author

Khan, Sara, primary, Solano-Paez, Palma, additional, Suwal, Tannu, additional, Lu, Mei, additional, Al-Karmi, Salma, additional, Ho, Ben, additional, Mumal, Iqra, additional, Shago, Mary, additional, Hoffman, Lindsey M, additional, Dodgshun, Andrew, additional, Nobusawa, Sumihito, additional, Tabori, Uri, additional, Bartels, Ute, additional, Ziegler, David S, additional, Hansford, Jordan R, additional, Ramaswamy, Vijay, additional, Hawkins, Cynthia, additional, Dufour, Christelle, additional, André, Nicolas, additional, Bouffet, Eric, additional, Huang, Annie, additional, Gonzalez CV, Almeida, additional, Stephens, Derek, additional, Leary, Sarah, additional, Marrano, Paula, additional, Fonseca, Adriana, additional, Thacker, Nirav, additional, Li, Bryan K., additional, Lindsay, Holly B., additional, Lassaletta, Alvaro, additional, Bendel, Anne E., additional, Moertel, Christopher, additional, Morales La Madrid, Andres, additional, Santa-Maria, Vicente, additional, Lavarino, Cinzia, additional, Rivas, Eloy, additional, Perreault, Sebastian, additional, Ellezam, Benjamin, additional, Weil, Alexander G, additional, Jabado, Nada, additional, Oviedo, Angelica, additional, Yalon-Oren, Michal, additional, Amariglio, Laura, additional, Toledano, Helen, additional, Dvir, Rina, additional, Loukides, James, additional, Van Meter, Timothy E., additional, Nakamura, Hideo, additional, Wong, Tai-Tong, additional, Wu, Kuo-Sheng, additional, Cheng, Chien-Jui, additional, Ra, Young-Shin, additional, La Spina, Milena, additional, Massimi, Luca, additional, Buccoliero, Anna Maria, additional, Reddy, Alyssa, additional, Li, Rong, additional, Gillespie, G. Yancey, additional, Adamek, Dariusz, additional, Fangusaro, Jason, additional, Scharnhorst, David, additional, Torkildson, Joseph, additional, Johnston, Donna, additional, Michaud, Jean, additional, LafayCousin, Lucie, additional, Chan, Jennifer, additional, Van Landeghem, Frank, additional, Wilson, Beverly, additional, Camelo-Piragua, Sandra, additional, Kabbara, Nabil, additional, Boutarbouch, Mahjouba, additional, Hanson, Derek, additional, Jacobsen, Chad, additional, Wright, Karen, additional, Vibhakar, Rajeev, additional, Levy, Jean M., additional, Wang, Yin, additional, Catchpoole, Daniel, additional, Gerber, Nicholas, additional, Grotzer, Michael A., additional, Shen, Violet, additional, Plant, Ashley, additional, Dunham, Christopher, additional, Joao Gil da Costa, Maria, additional, Ramanujachar, Ramya, additional, Raabe, Eric, additional, Rubens, Jeffery, additional, Phillips, Joanna, additional, Gupta, Nalin, additional, Demir, Haci Ahmet, additional, Dahl, Christine, additional, Jorgensen, Mette, additional, Hwang, Eugene I., additional, Packer, Roger J, additional, Smith, Amy, additional, Tan, Enrica, additional, Low, Sharon, additional, Lu, Jian-Qiang, additional, Ng, Ho- Keung, additional, Kresak, Jesse L., additional, Gururangan, Sridharan, additional, Pomeroy, Scott L., additional, Sirachainan, Nongnuch, additional, Hongeng, Suradej, additional, Magimairajan, Vanan, additional, Sinha, Roona, additional, Mushtaq, Naureen, additional, Antony, Reuben, additional, Sato, Mariko, additional, Samuel, David, additional, Zapotocky, Michal, additional, Afzal, Samina, additional, Walter, Andrew, additional, Tihan, Tarik, additional, Tsang, Derek S., additional, Gajjar, Amar, additional, Wood, Paul, additional, Cain, Jason E., additional, Downie, Peter A., additional, Gottardo, Nicolas, additional, Branson, Helen, additional, Laughlin, Suzanne, additional, Ertl-Wagner, Birgit, additional, Kulkarni, Abhaya V., additional, Taylor, Michael D., additional, Drake, James, additional, Ibrahim, George M., additional, Dirks, Peter B., additional, Rutka, James T., additional, Somers, Gino R., additional, Hazrati, Lili-Naz, additional, Bourdeaut, Franck, additional, Padovani, Laetitia, additional, Grundy, Richard G., additional, Mazewski, Claire M., additional, and Fouladi, Maryam, additional

Published
2021
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31. Clinical phenotypes and prognostic features of ETMRs (Embryonal Tumor with Multi-layered Rosettes) a new CNS tumor entity: A Rare Brain Tumor Registry study

Author

Khan, Sara, primary, Solano-Paez, Palma, additional, Suwal, Tannu, additional, Lu, Mei, additional, Al-Karmi, Salma, additional, Ho, Ben, additional, AlmeidaGonzalez, CV, additional, Stephens, Derek, additional, Dodgshun, Andrew, additional, Shago, Mary, additional, Marrano, Paula, additional, Fonseca, Adriana, additional, Hoffman, Lindsey M., additional, Leary, Sarah, additional, Lindsay, Holly B., additional, Lassaletta, Alvaro, additional, Bendel, Anne E., additional, Moertel, Christopher, additional, Morales, Andres, additional, Santa-Maria, Vicente, additional, Lavarino, Cinzia, additional, Rivas, Eloy, additional, Perreault, Sebastian, additional, Ellezam, Benjamin, additional, Jabado, Nada, additional, Oviedo, Angelica, additional, Yalon-Oren, Michal, additional, Amariglio, Laura, additional, Toledano, Helen, additional, Loukides, James, additional, Van Meter, Timothy E., additional, Nakamura, Hideo, additional, Wong, Tai-Tong, additional, Wu, Kuo-Sheng, additional, Cheng, Chien-Jui, additional, Ra, Young-Shin, additional, La Spina, Milena, additional, Massimi, Luca, additional, Buccoliero, Anna Maria, additional, Reddy, Alyssa, additional, Li, Rong, additional, Gillespie, G. Yancey, additional, Adamek, Dariusz, additional, Fangusaro, Jason, additional, Scharnhorst, David, additional, Torkildson, Joseph, additional, Johnston, Donna, additional, Michaud, Jean, additional, Lafay-Cousin, Lucie, additional, Chan, Jennifer, additional, Van Landeghem, Frank, additional, Wilson, Beverly, additional, Camelo-Piragua, Sandra, additional, Kabbara, Nabil, additional, Boutarbouch, Mahjouba, additional, Hanson, Derek, additional, Jacobsen, Chad, additional, Wright, Karen, additional, Mulcahy Levy, Jean M., additional, Wang, Yin, additional, Catchpoole, Daniel, additional, Gerber, Nicholas, additional, Grotzer, Michael A., additional, Shen, Violet, additional, Plant, Ashley, additional, Dunham, Christopher, additional, da Costa, Maria Joao Gil, additional, Ramanujachar, Ramya, additional, Raabe, Eric, additional, Rubens, Jeffery, additional, Philips, Joanna, additional, Gupta, Nalin, additional, Demir, Ahmet, additional, Dahl, Christine, additional, Jorgensen, Mette, additional, Hwang, Eugene I., additional, Smith, Amy, additional, Tan, Enrica, additional, Low, Sharon, additional, Lu, Jian-Qiang, additional, Ho-Keung, NG, additional, Kresak, Jesse L, additional, Gururangan, Sridharan, additional, Pomeroy, Scott L., additional, Sirachainan, Nongnuch, additional, Hongeng, Suradej, additional, Magimairajan, Vanan, additional, Sinha, Roona, additional, Mushtaq, Naureen, additional, Antony, Reuben, additional, Sato, Mariko, additional, Samuel, David, additional, Zapotocky, Michal, additional, Afzal, Samina, additional, Amayiri, Nisreen, additional, Al-Hussaini, Maysa, additional, Walter, Andrew, additional, Tihan, Tarik, additional, Somers, Gino R., additional, Gajjar, Amar, additional, Wood, Paul, additional, Gottardo, Nicolas, additional, Cain, Jason E., additional, Downie, Peter A, additional, Branson, Helen, additional, Laughlin, Suzanne, additional, Ertl-Wagner, Brigit, additional, Tsang, Derek S., additional, Ramaswamy, Vijay, additional, Drake, James, additional, Kulkarni, Abhaya V., additional, Ziegler, David S, additional, Nobusawa, Sumihito, additional, Tabori, Uri, additional, Taylor, Michael D., additional, Ibrahim, George M, additional, Rutka, James T., additional, Dirks, Peter B., additional, Hazrati, Lili-Naz, additional, Grundy, Richard G., additional, Fouladi, Maryam, additional, Padovani, Pr Laetitia, additional, Bourdeaut, Franck, additional, Hansford, Jordan R., additional, Bartels, Ute, additional, Dufour, Christelle, additional, Hawkins, Cynthia, additional, Andre, Nicolas, additional, Bouffet, Eric, additional, and Huang, Annie, additional

Published
2020
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33. Non Bis In Idem regarding serious violations of Human Rights: Analysis of the Colombian legal system

Author

Gil Oviedo, Angelica María and Cubides Cardenas, Jaime Alfonso

Subjects
procesado, Non bis in idem, Garantias Procesales, jurisdictions, Non Bis In Ídem, Procedural guarantees, DERECHO PENAL - COLOMBIA, Jurisdicciones, processed, PRINCIPIO NON BIS IN IDEM
Abstract

Las Garantías Procesales se han constituido como factores determinantes en la protección de los Derechos Humanos, además de otorgar legitimidad a las decisiones que se lleguen a proferir durante los procesos judiciales que las materialice. En materia penal, estas Garantías Procesales toman mayor importancia al constituirse en las herramientas que evitan la arbitrariedad del Estado, pues permiten comprender que el sujeto procesado es una persona, y como tal también tiene derechos y garantías que deben ser reconocidos por el propio Estado, con lo cual este puede proferir sanciones legítimas y legales respeto de las acciones de dicho individuo. Dentro de la comunidad internacional estas garantías han adquirido relevancia, al punto de impulsar su protección por medio de instrumentos internacionales, conllevado a su consolidación dentro de los sistemas universales y regionales de protección de los Derechos Humanos, facilitando la estandarización de parámetros en esta materia, con el objetivo de lograr en cualquier escenario procesal la efectiva protección a las personas. Dentro de estas garantías procesales el principio de Non Bis In Ídem busca evitar la doble judicialización a las personas ya condenadas; por consiguiente, ante la imperatividad de estas garantías, surge como cuestión establecer su aplicabilidad frente a los sujetos que presuntamente cometieron graves violaciones contra los Derechos Humanos en el marco de las múltiples jurisdicciones que puedan sancionarlo particularmente en relación al Non Bis In Ídem. Analizando cada una de estas jurisdicciones en la búsqueda de reglas que permitan establecer la forma en la cual se materializa el principio objeto de investigación como garantía procesal. Procedural guarantees have been constituted as determining factors in the protection of human rights, in addition to granting legitimacy to the decisions that are reached to be proferred during the judicial processes that materialize them. In criminal matters, these procedural guarantees take on greater importance by constituting the tools that avoid the arbitrariness of the state, since they allow to understand that the defendant is a person, and as such it also has rights and guarantees that must be Recognized by the State itself, whereupon it may give legitimate and legal sanctions respect for the actions of that individual. Within the international community, these guarantees have become relevant, to the point of promoting their protection by means of international instruments, leading to their consolidation within the universal and regional systems of protection of the rights Human rights, facilitating the standardization of parameters in this field, with the aim of achieving in any procedural scenario the effective protection to the people. Within these procedural guarantees the principle of Non Bis In Idem seeks to avoid the double judicialization to the already condemned persons; Consequently, in view of the imperative of these guarantees, it arises as a matter to establish its applicability to the subjects who allegedly committed serious violations against human rights in the framework of the multiple jurisdictions that may To penalize it particularly in relation to the Non Bis in ditto. Analyzing each of these jurisdictions in the search for rules that allow to establish the form in which the principle object of investigation materializes as procedural guarantee. Les garanties procédurales ont été constituées en tant que facteurs déterminants de la protection des droits de l’homme, en plus de donner une légitimité aux décisions prises qui doivent être rendues au cours des procédures judiciaires qui les matérialisent. En matière pénale, ces garanties de procédure revêtent une importance accrue en constituant des outils évitant l'arbitraire de l'État, puisqu'elles permettent de comprendre que le défendeur est une personne et, en tant que tel, il dispose également de droits et de garanties qui doivent être reconnus par le public. Etat lui-même, après quoi il peut donner des sanctions légitimes et légales au respect des actes de cet individu. Au sein de la communauté internationale, ces garanties sont devenues pertinentes, au point de promouvoir leur protection par le biais d'instruments internationaux, en vue de leur consolidation dans les systèmes universels et régionaux de protection des droits. Droits de l'homme, facilitant la normalisation des paramètres dans ce domaine , dans le but de réaliser dans n'importe quel scénario de procédure la protection effective de la population. Dans le cadre de ces garanties de procédure, le principe de Non Bis In Idem cherche à éviter la double judiciarisation des personnes déjà condamnées; Par conséquent, compte tenu de l’impératif de ces garanties, il s’agit d’établir son applicabilité aux personnes qui auraient commis de graves violations des droits de l’homme dans le cadre des multiples juridictions susceptibles de le sanctionner, notamment en ce qui concerne le Non Bis in idem. Analyser chacune de ces juridictions dans la recherche de règles permettant d'établir la forme sous laquelle le principal objet de l'enquête se matérialise en tant que garantie de procédure.

Published
2018

34. Alterations in ALK/ROS1/NTRK/MET drive a group of infantile hemispheric gliomas

Author

Guerreiro Stucklin, Ana S., primary, Ryall, Scott, additional, Fukuoka, Kohei, additional, Zapotocky, Michal, additional, Lassaletta, Alvaro, additional, Li, Christopher, additional, Bridge, Taylor, additional, Kim, Byungjin, additional, Arnoldo, Anthony, additional, Kowalski, Paul E., additional, Zhong, Yvonne, additional, Johnson, Monique, additional, Li, Claire, additional, Ramani, Arun K., additional, Siddaway, Robert, additional, Nobre, Liana Figueiredo, additional, de Antonellis, Pasqualino, additional, Dunham, Christopher, additional, Cheng, Sylvia, additional, Boué, Daniel R., additional, Finlay, Jonathan L., additional, Coven, Scott L., additional, de Prada, Inmaculada, additional, Perez-Somarriba, Marta, additional, Faria, Claudia C., additional, Grotzer, Michael A., additional, Rushing, Elisabeth, additional, Sumerauer, David, additional, Zamecnik, Josef, additional, Krskova, Lenka, additional, Garcia Ariza, Miguel, additional, Cruz, Ofelia, additional, Morales La Madrid, Andres, additional, Solano, Palma, additional, Terashima, Keita, additional, Nakano, Yoshiko, additional, Ichimura, Koichi, additional, Nagane, Motoo, additional, Sakamoto, Hiroaki, additional, Gil-da-Costa, Maria Joao, additional, Silva, Roberto, additional, Johnston, Donna L., additional, Michaud, Jean, additional, Wilson, Bev, additional, van Landeghem, Frank K. H., additional, Oviedo, Angelica, additional, McNeely, P. Daniel, additional, Crooks, Bruce, additional, Fried, Iris, additional, Zhukova, Nataliya, additional, Hansford, Jordan R., additional, Nageswararao, Amulya, additional, Garzia, Livia, additional, Shago, Mary, additional, Brudno, Michael, additional, Irwin, Meredith S., additional, Bartels, Ute, additional, Ramaswamy, Vijay, additional, Bouffet, Eric, additional, Taylor, Michael D., additional, Tabori, Uri, additional, and Hawkins, Cynthia, additional

Published
2019
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38. Toxoplasmosis in a Bone Marrow Transplant Patient

Author

Weinrach, David M. and Oviedo, Angelica

Subjects
Toxoplasmosis -- Case studies, Organ transplant recipients -- Diseases
Abstract

A 14-year-old boy underwent an allogenic bone marrow transplant (BMT) 4 months following diagnosis of acute myeloid leukemia. Three weeks after the BMT the patient was intubated secondary to presumed [...]

Published
2001

39. Abdominal Mass in a Neonate

Author

Oviedo, Angelica, Chou, Pauline, and Gonzalez-Crussi, Frank

Subjects
Tumors in children -- Diagnosis, Teratoma -- Diagnosis, Gastrointestinal tumors -- Diagnosis
Abstract

The patient was a 17-day-old male infant, who was born by cesarean section to a 27-year-old gravida 1, para 0 mother at 35 weeks' estimated gestational age; the infant weighed [...]

Published
2001

40. Intracranial myxoid mesenchymal tumors with <italic>EWSR1</italic>–<italic>CREB</italic> family gene fusions: myxoid variant of angiomatoid fibrous histiocytoma or novel entity?

Author

Bale, Tejus A., Oviedo, Angelica, Kozakewich, Harry, Giannini, Caterina, Davineni, Phani K., Ligon, Keith, and Alexandrescu, Sanda

Subjects
*MESENCHYMAL stem cells, *DERMATOFIBROMA, *MOLECULAR genetics, *TUMORS, *NEUROBLASTOMA
Abstract

Abstract: Intracranial myxoid mesenchymal tumor harboring EWSR1 fusions with CREB family of genes was recently described, and it resembles the myxoid variant of angiomatoid fibrous histiocytoma. We present three pediatric patients with intracranial EWSR1‐rearranged myxoid mesenchymal neoplasm and provide a molecular genetic characterization of these tumors. Clinical histories and imaging results were reviewed. Histology, immunohistochemistry, EWSR1, FUS, NR4A3 fluorescence in situ hybridization (FISH), and next‐generation sequencing (NGS) were performed. A 12‐year‐old male (case 1), 14‐year‐old female (case 2), and 18‐year‐old male (case 3), presented with headaches, emesis, and seizures, respectively. The magnetic resonance images demonstrated tumors abutting the dura (cases 1 and 3) and in the third ventricle (case 2). All tumors were vascular, with solid sheets of monomorphic oval cells in a prominent myxoid/microcystic matrix. A thin fibrous pseudocapsule was present in all lesions, but definitive lymphocytic cuffing was absent. Morphologically, they closely resembled myxoid variant of angiomatoid fibrous histiocytoma. Mitoses were rare, and necrosis was absent. All tumors expressed desmin and GLUT1, and focal EMA and CD99. The proliferation index was low. FISH and NGS showed EWSR1–CREB1 fusion (cases 1 and 2), and EWSR1–CREM fusion (case 3). There were no FUS (16p11.2) or NR4A3 (9q22.33) rearrangements in case 3. Gains of 5q (including KCNIP1) and 11q (including CCND1) were present in cases 1 and 2. There were no common pathogenic genomic changes other than EWSR1 rearrangements across cases. CNS myxoid mesenchymal neoplasms with histological and immunophenotypic similarities to myxoid variant of AFH are rare, diagnostically challenging, and harbor EWSR1–CREB1 and also a novel EWSR1–CREM fusion not yet described in AFH. Therefore, it is uncertain if these tumors represent variants of AFH or a new entity. The copy number and mutational changes presented here provide support for future studies to further clarify this issue. [ABSTRACT FROM AUTHOR]

Published
2018
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