tbuckley/cabot-search huggingface dataset:
Clinical and genetic aspects of ovarian stromal tumors: A report from the International Ovarian and Testicular Stromal Tumor Registry.
Authors: Kris Ann Pinekenstein Schultz, Anne Harris, Leslie Ann Doros, Robert H Young, Louis P Dehner, A. Lindsay Frazier, D. Ashley Hill, Yoav H. Messinger
Journal: Journal of Clinical Oncology (2014)

5520 Background: Ovarian sex cord-stromal tumors are rare tumors that tend to occur in children, adolescents and young adults. The International Ovarian and Testicular Stromal Tumor (OTST) Registry was established in December 2011 to investigate the clinical and biologic aspects of these rare tumors. Methods: For each Registry participant, clinical data and biologic specimens including germline DNA and tumor tissue were collected. Pathology was centrally reviewed and germline DICER1 testing was performed. Results: Overall, 52 patients with ovarian tumors have enrolled. Forty-one of these have SLCT (n=22), juvenile granulosa cell tumor (n=14), Sertoli cell tumor (n=4) or gynandroblastoma (n=1) and are presented here. Median overall survival is 25 months (range 3 to 223). Four patients have recurred and 2 have died from disease. Median age at diagnosis was 15 (range ≤1 to 51 years, 73% younger than 21 years). Eleven of 32 patients tested (34%) have a deleterious germline DICER1 mutation. DICER1 mutations were seen in 56% of patients with SLCT. Additional tumors, including carcinoid, pleuropulmonary blastoma, cystic nephroma and rhabdomyosarcoma, were seen in 18% of patients prior to or following the diagnosis of SLCT. Conclusions: Establishment of the International OTST Registry allowed rapid accrual of patients with these rare tumors. Although most patients are alive, recurrences and other tumors occurred, especially in SLCT. Germline DICER1 mutations were seen in more than half of patients with SLCT as well as in one patient with juvenile granulosa cell tumor and one with gynandroblastoma. Further analysis of DICER1 in tumor tissue is underway. Diagnosis n Age at diagnosis (yrs), median (range) DICER1+ n (%) Thyroid nodules n (%) Other (non-thyroid) tumors n (%) Recurrence n (%) Overall survival n (%) Overall survival (months) median (range) SLCT 22 17 (3-40) 9/16 (56%) 4 (18%) 4 (18%) 3 (14%) 21 (95%) 13 (3-202) Juvenile granulosa cell tumor 14 9 (<1-18) 1/12 (8%) 1 (7%) 0 1 (7%) 13 (93%) 28 (15-223) Sertoli cell tumor 4 46 (34-51) 0/3 2 (50%) 1 (25%) 0 4 (100%) 27 (9-37) Gynandroblastoma 1 15 1/1 (100%) 1 (100%) 0 0 1 (100%) 98 Total 41 15 (<1-51) 11/32 (34%) 8 (20%) 5 (12%) 4 (10%) 39 (95%) 25 (3-223)
Erratum to: The whole genome sequence of the Mediterranean fruit fly, Ceratitis capitata (Wiedemann), reveals insights into the biology and adaptive evolution of a highly invasive pest species
Authors: Alexie Papanicolaou, Marc F. Schetelig, Peter Arensburger, Peter W. Atkinson, Joshua B. Benoit, Kostas Bourtzis, Pedro Castañera, John P. Cavanaugh, Hsu Chao, Christopher Childers, Ingrid Curril, Huyen Dinh, HarshaVardhan Doddapaneni, Amanda Dolan, Shannon Dugan, Markus Friedrich, Giuliano Gasperi, Scott Geib, Georgios Georgakilas, Richard A. Gibbs, Sarah D. Giers, Ludvik M. Gomulski, Miguel González-Guzmán, Ana Guillem-Amat, Yi Han, Artemis G. Hatzigeorgiou, Pedro Hernández-Crespo, Daniel S. T. Hughes, Jeffery W. Jones, Dimitra Karagkouni, Panagiota Koskinioti, Sandra L. Lee, Anna R. Malacrida, Mosè Manni, Kostas Mathiopoulos, Angela Meccariello, Monica Munoz-Torres, Shwetha C. Murali, Terence D. Murphy, Donna M. Muzny, Georg Oberhofer, Félix Ortego, Maria D. Paraskevopoulou, Monica Poelchau, Jiaxin Qu, Martin Reczko, Hugh M. Robertson, Andrew J. Rosendale, Andrew E. Rosselot, Giuseppe Saccone, Marco Salvemini, Grazia Savini, Patrick Schreiner, Francesca Scolari, Paolo Siciliano, Sheina B. Sim, George Tsiamis, Enric Ureña, Ioannis S.Vlachos, John H. Werren, Ernst A. Wimmer, Kim C. Worley, Antigone Zacharopoulou, Stephen Richards, Alfred M. Handler
Journal: Genome biology (2017)
David Robert Hadden
Authors: P. B. R. H. D. McCance
Journal: BMJ (2014)

David Robert Hadden was an internationally recognised expert on growth, nutrition, and diabetes. Anticipating the impact of the westernised lifestyle on the epidemic of type 2 diabetes, in 1972 he set up the Belfast Diet Study, which confirmed that strict adherence to diet alters the natural history of the disease. Subsequently his collaboration in the UK Prospective Diabetes Study showed for the first time the importance of good control of blood glucose in preventing complications of type 2 diabetes. 

His other great contribution was in the management of diabetic pregnancy. The joint diabetes obstetric service he built up was an example copied nationally. He led the involvement of Belfast as major centre and main laboratory in the Hyperglycaemia and Adverse Pregnancy Outcome Study, which highlighted the potentially harmful effects of small increases in blood sugar on non-diabetic mothers—findings that continue to challenge and change practice. 

David Hadden came from a well known Irish medical family. His great grandfather was a doctor in Skibbereen, County Cork, where he treated victims of the Irish potato famine. His grandfather became a ship’s doctor on an ocean liner …
Bacterial neuraminidase facilitates mucosal infection by participating in biofilm production
Authors: G. Soong, A. Muir, M. I. Gomez, J. Waks, B. Reddy, P. Planet, P. K. Singh, Y. Kanetko, M. C. Wolfgang, Y.-S. Hsiao, L. Tong, A. Prince
Journal: Journal of Clinical Investigation (2006)
Sensitivity and Specificity of Cetuximab-IRDye800CW to Identify Regional Metastatic Disease in Head and Neck Cancer
Authors: Eben L. Rosenthal, Lindsay S. Moore, Kiranya Tipirneni, Esther de Boer, Todd M. Stevens, Yolanda E. Hartman, William R. Carroll, Kurt R. Zinn, Jason M. Warram
Journal: Clinical Cancer Research (2017)

Abstract Purpose: Comprehensive cervical lymphadenectomy can be associated with significant morbidity and poor quality of life. This study evaluated the sensitivity and specificity of cetuximab-IRDye800CW to identify metastatic disease in patients with head and neck cancer. Experimental Design: Consenting patients scheduled for curative resection were enrolled in a clinical trial to evaluate the safety and specificity of cetuximab-IRDye800CW. Patients (n = 12) received escalating doses of the study drug. Where indicated, cervical lymphadenectomy accompanied primary tumor resection, which occurred 3 to 7 days following intravenous infusion of cetuximab-IRDye800CW. All 471 dissected lymph nodes were imaged with a closed-field, near-infrared imaging device during gross processing of the fresh specimens. Intraoperative imaging of exposed neck levels was performed with an open-field fluorescence imaging device. Blinded assessments of the fluorescence data were compared to histopathology to calculate sensitivity, specificity, negative predictive value (NPV), and positive predictive value (PPV). Results: Of the 35 nodes diagnosed pathologically positive, 34 were correctly identified with fluorescence imaging, yielding a sensitivity of 97.2%. Of the 435 pathologically negative nodes, 401 were correctly assessed using fluorescence imaging, yielding a specificity of 92.7%. The NPV was determined to be 99.7%, and the PPV was 50.7%. When 37 fluorescently false-positive nodes were sectioned deeper (1 mm) into their respective blocks, metastatic cancer was found in 8.1% of the recut nodal specimens, which altered staging in two of those cases. Conclusions: Fluorescence imaging of lymph nodes after systemic cetuximab-IRDye800CW administration demonstrated high sensitivity and was capable of identifying additional positive nodes on deep sectioning. Clin Cancer Res; 23(16); 4744–52. ©2017 AACR.
INJURY PREVENTION THROUGH EXTERNAL SENSOMOTORIC SUPPORT?
Authors: Jürgen Herfert, Yvonne Landkammer, Robert Sassmann, Sebastian Edtinger, Angelika Moder, Anton Wicker
Journal: British Journal of Sports Medicine (2017)

Background Recent you'll find more and more sport equipment in the sporting goods industry promising at least to increase the subjective stability of joints, being also called intelligent sportswear. Literature also reports about the influence on the sensorimotor system, not only the mechanical effect. Objective Two different stability devices (knee support, CEP socks) are tested during postural tasks. Design Clinical controlled study. Setting The participant is standing one-legged, hands on hips on the Posturomed® platform running with microswing software (Haider Bioswing GmbH, Germany) in order to stabilize the platform as quickly as possible after slackening a lever over a testing period of 10 seconds. Patients (or Participants) 24 men and women without an injury of the lower extremities during the last 6 months, no artificial limbs, no stiff joints. Interventions (or Assessment of Risk Factors) Three valid measurements are collected (mean was taken for statistical evaluation) on each side for three different test situations (bare, with knee support, with CEP socks) standing on an instable plane (Posturomed®). The order of the test situation is randomized. Main Outcome Measurements Collected points during the 10 second testing period provide information about the ability to stabilize the platform. The more points achieved (0–1000), the better the result. Results Repeated measures and Fisher LSD Test were used for statistical analysis. By using external support postural stability increases significantly, but no significant difference can be found between the two tested devices. Conclusions In accordance with the literature, sensorimotor function can be supported by external devices used in the study. Injury prevention because of an increased postural control, especially during exhausting physical activities, needs some further research.
Erratum: Betaine acts on a ligand-gated ion channel in the nervous system of the nematode C. elegans
Authors: Aude S Peden, Patrick Mac, You-Jun Fei, Cecilia Castro, Guoliang Jiang, Kenneth J Murfitt, Eric A Miska, Julian L Griffin, Vadivel Ganapathy, Erik M Jorgensen
Journal: Nature Neuroscience (2014)
Immunoglobulin gene sequence analysis in chronic lymphocytic leukemia: updated ERIC recommendations
Authors: R. Rosenquist, Paolo Ghia, A. Hadzidimitriou, L. Sutton, A. Agathangelidis, P. Baliakas, Nikos Darzentas, Veronique Giudicelli, Marie-Paule Lefranc, Anton Langerak, C. Belessi, Frédéric Davi, Kostas Stamatopoulos
Journal: Leukemia (2017)

Pivotal studies from the 1990s offered the first pieces of evidence for the role of immunoglobulin (IG) receptors and antigen stimulation in the natural history of chronic lymphocytic leukemia (CLL).2][3][4] In addition, they showed that the presence and load of somatic hypermutation (SHM) within the rearranged IG heavy variable (IGHV) genes of the clonotypic B-cell receptor (BcR) IG dichotomizes CLL into two broad categories: the first includes cases with no or limited SHM ('unmutated' CLL, U-CLL), while the second includes cases with a significant SHM load ('mutated' CLL, M-CLL). 1,3Of note, within the clinical arena, IGHV mutation burden enabled the accurate prediction of the clinical course of the disease based on the level of SHM within the expressed IGHV genes. 5,6It has subsequently been shown that U-CLL is markedly different from M-CLL not only regarding the clinical course, but also in terms of biological features: the former is associated with adverse prognostic genomic aberrations, increased BcR signaling capacity, shorter time to progression and an overall inferior outcome compared to M-CLL. 7n hindsight, these studies represent true landmarks in the understanding of CLL, forming the cornerstone for an immunologically oriented view of CLL ontogeny and evolution.1][22] On these grounds, it has been proposed that patient classification based on BcR IG stereotypy can supersede the more generic categorization into U-CLL versus M-CLL, at least for major subsets.For instance, stereotyped subset #2 (IGHV3-21/ IGLV3-21) has emerged as a prototype of aggressive disease independently of the SHM load. 23dditional evidence for the importance of immunogenetic analysis in CLL was provided by three recent independent studies demonstrating that the SHM status of the IGHV genes was
Paradoxical psoriasiform reactions to antitumour necrosis factor‐α drugs in hidradenitis suppurativa
Authors: L. Dequidt, O. Cogrel, S. Guillet, B. Milpied, A.S. Darrigade, M. Beylot‐Barry, A. Pham‐Ledard
Journal: British Journal of Dermatology (2017)

Paradoxical psoriasiform reactions to anti-tumor necrosis factor α (TNFα) agents occur with an incidence of 0.3 to 5.6% in patients with inflammatory bowel diseases and rheumatic diseases1. Various clinical features have been described while histopathological findings often show lichenoid infiltrate, spongiosis associated with a psoriasiform pattern and a “type I interferon (IFN) signature “ in immunohistochemistry2

This article is protected by copyright. All rights reserved.
The Italian Rare Cancer Network.
Authors: Roberta Sanfilippo, Marco Tricomi, Federica Grosso, Giacomo Baldi, Beatrice De Troia, Elena Fumagalli, Elena Palassini, Silvia Stacchiotti, Rossella Bertulli, Marco Fiore, Angelo Paolo Dei Tos, Paolo Giovanni Casali
Journal: Journal of Clinical Oncology (2012)

10053 Background: Rare cancers (RC) are a challenge in terms of quality of care, access to health resources and clinical research. The Italian Rare Cancer Network (RTR: “Rete Tumori Rari”) is a clinical collaborative effort to improve quality of care in adult rare solid cancers in Italy. RTR enables institutions to share clinical cases and to rationalize access to distant reference centers minimizing patient migration. It indirectly promotes collaborative clinical research by encouraging accrual into clinical trials and supporting observational studies. Methods: RTR includes 150 oncology institutions across Italy. Clinical cases are shared asynchronously over a secure Web resource. Data, images and transactions are stored in an online clinical record. Patients are shared: 1. "logically”, when they are dealt with following common clinical practice guidelines; 2. "virtually”, when they are discussed over the network between two or more centers; 3: "physically", when they are referred to an excellence center for a specific treatment modality. Pathology review is arranged through transferal of paraffin-embedded specimens and upload of consultations. While it was chosen not to implement telepathology facilities, a teleradiology resource is now available. Results: From 2003 to 2011, more than 5,000 rare cancers cases (mostly sarcomas) have been uploaded. More than 1,300 teleconsultations have been delivered, while more than 1,000 patients moved across the network during their experience of disease. 700 cases were reviewed pathologically: amongst 365 cases originally diagnosed as soft tissues sarcomas up to 2010, treatment-relevant discordances were recorded in more than one third. An observational prospective study on gastrointestinal stromal tumors was done, enrolling 800 patients. An original paper documenting the activity of a drug in a highly specific sarcoma subgroup was published. Conclusions: Clinical asynchronous online collaboration on RC is feasible through a Web-based secure environment and proved the most practical way of clinical distant sharing. Pathologic review was a crucial network service, with a special added value in RC. Retrospective and prospective observational studies, and unplanned observations in very rare cases, were an interesting by-product.
Pilot Study of Combined Type I FLT3 Tyrosine Kinase Inhibitor, Crenolanib with Sorafenib in Pediatric Patients with Relapsed/Refractory FLT3+Ve AML
Authors: Hiroto Inaba, John C Panetta, Daelynn R Buelow, Raul C. Ribeiro, John R. Eckardt, Sharyn D Baker
Journal: Blood (2016)
Implication of Molecular Diversity and Functional Conservation of Erythropoietin Based on a Comparison of Tertiary Structures of Humans and Frogs,
Authors: Mizue Meguro, Motoyasu Adachi, Kazumichi Nagasawa, Miho Beppu, Nobuo Okazaki, Nami Nogawa-Kosaka, Taro Tamada, Ryota Kuroki, Takashi Kato
Journal: Blood (2011)
P03.03 IDH1/2 mutations in gliomas: A single tertiary cancer Institutional experience
Authors: S. Epari, M. Gurav
Journal: Neuro-Oncology (2017)

Introduction: Isocitrate dehydrogenase (IDH) mutation is characteristic of diffuse gliomas (DG) and secondary glioblastomas (GBM). Methods: 687 glioma FFPE cases analyzed for IDH1/2 mutation by Sanger sequencing. Some were additionally evaluated for ATRX protein, 1p19q deletion and EGFR amplification. All cases were reclassified based on 2016 WHO classification. Oligodendroglial (ODG) tumors with incomplete molecular evaluation (for 1p19q deletion/ATRX) are classified as ODG-NOS. Cases with discordance between histology and molecular findings are classified as glioma, NOS-astrocytic (GNOS-A) and ODG phenotype (GNOS-ODG) respectively. Results: 665 were interpretable for IDH1/2 sequencing. 22 pediatric [<6yrs:2, 6-14yrs:11, 15-18yrs: 9] and 643 adults. Histological spectrum in adults - 632 DG {astrocytomas (DA:20), anaplastic (AA:78), ODGs [(ODG:36, ODG-NOS:6), anaplastic ODG (ODG-A:116, ODGA-NOS:21)], GBM:213, high grade glioma-NOS [HGGNOS-A:50, HGGNOS-ODG:58], low grade glioma-NOS (LGGNOS-A:14 & LGGNOS-ODG:17)}, other astrocytomas [pilocytic astrocytoma (PCA:6), PXA: 2] and glioneuronal tumours [ganglioglioma: 2, extraventricular neurocytoma: 3, CD/DNET:1]. Pediatric group comprised 17 DGs [AA:2, ODGA-NOS:1, GBM:7, HGGNOS-A:2, HGGNOS-ODG:1, LGGNOS-A:3 & LGGNOS-ODG:1], 4 PCA and 1 CD/DNET. IDH mutation was seen only in DGs. In pediatric, 3 cases (1/1 ODG-A & 2/7 GBMs) of age group 15-18yrs were mutated and in adult 61.7% [19-25yrs (40.5%; 15/37), 26-40yrs (73.3%; 176/240), 40-60yrs (62.0%; 171/276), >60yrs (35.4%; 28/79)] were mutated. The most frequent mutation was IDH1R132H (78.1%) followed by IDH1R132C (5.3%), IDH1R132S (4.3%), IDH1R132G (3.3%) and IDH1R132L (1.3%) with IDH2 mutations in small percentage of cases [6.4% IDH2R172K, 0.8% IDH2R172M, 0.3% IDH2R172G, 0.3% IDH2R172W]. In adult group, mIDH was seen in 70% (14/20), 83.3% (65/78), 100% (36/36), 100% (6/6), 100% (116/116), 100% (21/21), 24.0% (51/213), 42% (21/50), 74.1% (43/58), 57.1% (8/14) and 53.0% (9/17) cases of DA, AA, ODG, ODG-NOS, ODG-A, ODGA-NOS, GBM, HGGNOS-A, HGGNOS-ODG, LGGNOS-A and LGGNOS-ODG respectively. One case of AA showed somatic homozygous IDH1R132H mutation. 1p19q was evaluated in 36/42 ODGs, 116/137 ODG-A cases, 8/17 LGGNOS-ODG and 47/58 HGGNOS-ODG. The former two groups only showed co-deletion. EGFR FISH was performed on 90/220 GBMs with 24 amplified (all wtIDH) and 66 non-amplified (mIDH:14, wtIDH:52). Conclusions:IDH1/2 mutation was noted in 61.7% of adult DGs and can also be detected in older pediatric DGs. 9.1% of adult histological pure ODG showed wtIDH1/2. IDH mutations are heterozygous but in this study one case showed homozygous mutation, which is exceptionally rare, the implications of which needs to be further studied.
Subject Index Vol. 78, 2009
Authors: Cheryl A. Cockram, Gheorghe Doros, John M. de Figueiredo, Thomas Karger, Nicoletta Sonino, Pio Peruzzi, Piero Porcelli, Antonello Bellomo, Roberto Quartesan, Mario Altamura, Salvatore Iuso, Ida Ciannameo, Massimiliano Piselli, Sandro Elisei, Giovanni A. Fava, Nicoletta Sonino, Giovanni A. Fava, Thomas N. Wise, Palmiero Monteleone, Cristina Serritella, Valter Milano, Arcangelo Di Cerbo, Francesco Blasi, Claudio Petrella, Mario Maj, Giovanni Nolfe, K. Domschke, Mark B. Powers, Paul M.G. Emmelkamp, John S. Ogrodniczuk, William E. Piper, Anthony S. Joyce, Allan A. Abbass, Michael Levin, Steven C. Hayes, Elisa Albieri, Dalila Visani, Emanuela Offidani, Fedra Ottolini, Chiara Ruini, Andrew A. Nierenberg, Diane Warden, Madhukar H. Trivedi, Stephen R. Wisniewski, Ira M. Lesser, Jeff Mitchell, G.K. Balasubramani, Maurizio Fava, Kathy Shores-Wilson, Diane Stegman, A. John Rush, R. Berger, M. Gelkopf, K. Pohle, T. Roehrs, V. Arolt, B.T. Baune, Raluca A. Topciu, Xi Zhao, Wan Tang, Marnin J. Heisel, Nancy L. Talbot, Paul R. Duberstein, M. Pasquini, L. Tarsitani, D. Piacentino, G. Moretti, C. Roscioli, C. Leone, M. Biondi
Journal: Psychotherapy and Psychosomatics (2009)
Bone CLARITY: Clearing, imaging, and computational analysis of osteoprogenitors within intact bone marrow
Authors: Alon Greenbaum, Ken Y. Chan, Tatyana Dobreva, David Brown, Deepak H. Balani, Rogely Boyce, Henry M. Kronenberg, Helen J. McBride, Viviana Gradinaru
Journal: Science Translational Medicine (2017)

Bone tissue harbors unique and essential physiological processes, such as hematopoiesis, bone growth, and bone remodeling. To enable visualization of these processes at the cellular level in an intact environment, we developed "Bone CLARITY," a bone tissue clearing method. We used Bone CLARITY and a custom-built light-sheet fluorescence microscope to detect the endogenous fluorescence of Sox9-tdTomato+ osteoprogenitor cells in the tibia, femur, and vertebral column of adult transgenic mice. To obtain a complete distribution map of these osteoprogenitor cells, we developed a computational pipeline that semiautomatically detects individual Sox9-tdTomato+ cells in their native three-dimensional environment. Our computational method counted all labeled osteoprogenitor cells without relying on sampling techniques and displayed increased precision when compared with traditional stereology techniques for estimating the total number of these rare cells. We demonstrate the value of the clearing-imaging pipeline by quantifying changes in the population of Sox9-tdTomato-labeled osteoprogenitor cells after sclerostin antibody treatment. Bone tissue clearing is able to provide fast and comprehensive visualization of biological processes in intact bone tissue.
The utility of MASS‐FIX to detect and monitor monoclonal proteins in the clinic
Authors: Paolo Milani, David L. Murray, David R. Barnidge, Mindy C. Kohlhagen, John R. Mills, Giampaolo Merlini, Surendra Dasari, Angela Dispenzieri
Journal: American Journal of Hematology (2017)

The detection and quantification of monoclonal-proteins (M-proteins) are necessary for the diagnosis and evaluation of response in plasma cell dyscrasias. Immunoglobulin enrichment-coupled with matrix-assisted laser desorption ionization time-of-flight mass-spectrometry (MASS-FIX) is a simple and inexpensive method to identify M-proteins, but its clinical generalizability has not yet been elucidated. We compared MASS-FIX to protein electrophoresis (PEL), serum/urine immunofixation-electrophoresis (IFE), and quantitative serum free-light chain (FLC) for the identification of M-proteins in different clinical diagnoses. Paired serum and urine samples from 257 patients were tested. There were six patients for whom s-IFE and FLC ratio were positive and serum MASS-FIX was negative, but when serum and urine MASS-FIX results were combined, only one patient with light chain-MGUS was missed. Serum/urine-MASS-FIX detected M-proteins in 18 patients with negative serum/urine-PEL/IFE and serum-FLC, 10 of whom had multiple myeloma or AL amyloidosis, who were mistakenly thought to have complete hematologic response by serum/urine-PEL/IFE and serum-FLC. Nearly half of the AL amyloidosis patients had atypical spectra, which may prove to be a clue to the diagnosis and pathogenesis of the disease. In conclusion, MASS-FIX has a comparable sensitivity with PEL/IFE/FLC methods and can help inform the clinical diagnosis.