tbuckley/cabot-search huggingface dataset:
A genetic cluster of patients with variant xeroderma pigmentosum with two different founder mutations
Authors: V. Munford, L.P. Castro, R. Souto, L.K. Lerner, J. B. Vilar, C. Quayle, H. Asif, A.P. Schuch, T.A. de Souza, S. Ienne, F.I.A. Alves, L.M.S. Moura, P.A.F. Galante, A.A. Camargo, R. Liboredo, S.D.J. Pena, A. Sarasin, S.C. Chaibub, C.F.M. Menck
Journal: British Journal of Dermatology (2016)

Xeroderma pigmentosum (XP) is a rare human syndrome associated with hypersensitivity to sunlight and a high frequency of skin tumours at an early age. We identified a community in the state of Goias (central Brazil), a sunny and tropical region, with a high incidence of XP (17 patients among approximately 1000 inhabitants).To identify gene mutations in the affected community and map the distribution of the affected alleles, correlating the mutations with clinical phenotypes.Functional analyses of DNA repair capacity and cell-cycle responses after ultraviolet exposure were investigated in cells from local patients with XP, allowing the identification of the mutated gene, which was then sequenced to locate the mutations. A specific assay was designed for mapping the distribution of these mutations in the community.Skin primary fibroblasts showed normal DNA damage removal but abnormal DNA synthesis after ultraviolet irradiation and deficient expression of the Polη protein, which is encoded by POLH. We detected two different POLH mutations: one at the splice donor site of intron 6 (c.764 +1 G>A), and the other in exon 8 (c.907 C>T, p.Arg303X). The mutation at intron 6 is novel, whereas the mutation at exon 8 has been previously described in Europe. Thus, these mutations were likely brought to the community long ago, suggesting two founder effects for this rare disease.This work describes a genetic cluster involving POLH, and, particularly unexpected, with two independent founder mutations, including one that likely originated in Europe.
A Single Nucleotide Polymorphism in the NLRP3 Gene Is Associated with Acute Graft-Versus-Host Disease After HLA-Matched Unrelated Bone Marrow Transplantation,
Authors: Luis J. Espinoza, Akiyoshi Takami, Katsuya Nakata, Makoto Onizuka, Takakazu Kawase, Yasuo Morishima, Takahiro Fukuda, Yoshihisa Kodera, Shinji Nakao
Journal: Blood (2011)
Genome-To-Genome Virus-Host Analysis Reveals HCV Genotype 3 Viral Polymorphisms Linked Viral Load and to Host HLA Class-I/II and IL28B Alleles
Authors: M. Azim Ansari, V. Pedergnana, D. Bonsall, N. Chaturvedi, I. Bartha, J. Fellay, D. Smith, R. Bowden, C. Ip, A. Trebes, P. Piazza, G. Foster, G. Cooke, P. Klenerman, E. Barnes, C. Spencer
Journal: Journal of Hepatology (2016)
Update on the Safety and Efficacy of REP 2139 Monotherapy and Subsequent Combination Therapy with Pegylated Interferon Alpha-2A in Caucasian Patients with Chronic HBV/HDV Co-Infection
Authors: M. Bazinet, V. Pantea, V. Cebotarescu, L. Cojuhari, P. Jimbei, J. Albrecht, P. Schmid, A. Krawczyk, H. Karimzadeh, M. Roggendorf, A. Vaillant
Journal: Journal of Hepatology (2016)
Hepatitis Delta Virus Kinetics under the Prenylation Inhibitor Lonafarnib Suggest HDV-Mediated Suppression of HBV Replication
Authors: C. Yurdaydin, N. Borochov, C. Kalkan, S. DebRoy, E. Karatayli, V. Haynes-Williams, S.C. Karatayli, L. Canini, S.L. Uprichard, A. Mihat Bozdayi, I. Choong, D. Cory, T. Heller, S. Cotler, R. Idilman, J.S. Glenn, H. Dahari
Journal: Journal of Hepatology (2016)
The synthesis of OspD3 (ShET2) in<i>Shigella flexneri</i>is independent of OspC1
Authors: Christina S. Faherty, Tao Wu, Carolyn R. Morris, Christen L. Grassel, David A. Rasko, Jill M. Harper, Terez Shea-Donohue, Alessio Fasano, Eileen M. Barry
Journal: Gut Microbes (2016)

Shigella flexneri is a Gram-negative pathogen that invades the colonic epithelium and causes millions of cases of watery diarrhea or bacillary dysentery predominately in children under the age of 5 years in developing countries. The effector Shigella enterotoxin 2 (ShET2), or OspD3, is encoded by the sen or ospD3 gene on the virulence plasmid. Previous literature has suggested that ospD3 is in an operon downstream of the ospC1 gene, and expression of both genes is controlled by a promoter upstream of ospC1. Since the intergenic region is 328 bases in length and contains several putative promoter regions, we hypothesized the genes are independently expressed. Here we provide data that ospD3 and ospC1 are not co-transcribed and that OspC1 is not required for OspD3/ShET2 function. Most importantly, we identified strong promoter activity in the intergenic region and demonstrate that OspD3/ShET2 can be expressed and secreted independently of OspC1. This work increases our understanding of the synthesis of a unique virulence factor and provides further insights into Shigella pathogenesis.
High Svr Rates with ABT-493 + ABT-530 Co-Administered for 8 Weeks in Non-Cirrhotic Patients with HCV Genotype 3 Infection
Authors: A.J. Muir, S. Strasser, S. Wang, S. Shafran, M. Bonacini, P. Kwo, D. Wyles, E. Gane, S.S. Lovell, C.-W. Lin, T.I. Ng, J. Kort, F.J. Mensa
Journal: Journal of Hepatology (2016)
Cellular Neutrophil Dysfunction is a Feature of Early Cirrhosis and Associated with an Increased Risk of Decompensation and Bacterial Infection
Authors: H. Lu, J. Macnaughtan, R. Sawhney, H. Jones, A. Moratalla, F. Figorelli, M. Bondoc, G. Wright, N. Davies, R. Mookerjee, R. Jalan
Journal: Journal of Hepatology (2016)
Age-dependent analysis of toxicity, mortality, and implementation of an anti-infective prophylaxis in 1171 elderly patients (pts) with aggressive B-cell lymphoma (aNHL): Data from consecutive phase II and III trials of the DSHNHL.
Authors: Florian Zettl, Marita Ziepert, Bettina Altmann, Samira Zeynalova, Markus Loeffler, Norbert Schmitz, Michael Pfreundschuh, Karin Hohloch, Lorenz Trümper
Journal: Journal of Clinical Oncology (2016)

7539 Background: In elderly pts with aggressive B-cell lymphoma, the feasibility of full dose curative chemotherapy is limited by comorbidities and subsequent higher treatment related mortality (TRM). We analyzed the influence of age and the impact of a stringent anti-infective prophylaxis on outcome, feasibility and toxicity of the R-CHOP-14 regimen within consecutive DSHNHL phase II and III trials for pts > 60 years (yrs). Methods: 1171 pts with aNHL recruited in the Ricover60 trial (n=610) and CHOP-R-ESC trial (n=561) were included in a multivariate analysis of age dependent EFS, PFS and OS. TRM and the impact of an anti-infective prophylaxis (introduced in in CHOP-R-ESC) were investigated. The cohort was subdivided into 4 age groups (61-65 yrs , 66-70 yrs, 71-75 yrs and 76-80 yrs). Results: Significant differences adjusted for IPI in EFS, PFS and OS were seen between the age groups of 76-80 vs 71-75 yrs ( table 1). Dose reductions were most frequent in the age group 76-80 yrs. and up to 70% of pts did not receive the complete planned cycles. Hematotoxicity, infections and TRM increased with age. TRM is markedly elevated for the age group 76-80 yrs . Anti-infective prophylaxis with >90% adherence in CHOP-R-esc reduced TRM in this age-group by almost 50%. Conclusions: This analysis shows that a remarkable proportion of patients between 76-80 years could receive the planned treatment and had a clinically relevant increase in TRM compared to pts aged 61-75 yrs. Supportive measures (pre-phase treatment, close surveillance, prophylactic anti-infective therapy) are essential and clinically effective when treating elderly pts with aggressive lymphoma. The current challenge is to identify those elderly pts who will benefit from intense treatment. Age OS 36 mo. PFS 36 mo. EFS 36 mo. TRM Infections CTC grade 3,4 6xCHOP-14+8R (n=306) Ric60 n=73 71-75 80% 78% 68% 8% 33% n=40 76-80 51% 49% 44% 20% 44% p=0,004 p=0,003 p=0.015 CHOP-R-ESC trials n=141 71-75 77% 74% 71% 4% 24% n=83 76-80 61% 57% 53% 11% 28% p=0,050 p=0,012 p=0,014
Epidémie régionale de S. enteritidis lysotype 5 dans un élevage avicole en autriche
Authors: C Berghold, C. Kornschober, S. Weber
Journal: Eurosurveillance (2003)

Au cours du printemps et de l'ete 2002, le Nazionale Referenzzentrale fur Salmonellen (Centre National de Reference autrichien pour les salmonelles - NRCS) a observe un foyer d'infections humaines a Salmonella enterica subsp. enterica ser. Enteritidis lysotype 5 (S. Enteritidis PT5) dans deux districts proches l'un de l'autre en Autriche. En 1999, une epidemie egalement liee a S. Enteritidis PT5 etait survenue dans cette region chez un producteur avicole (6 000 poules environ). L'attention a donc ete a nouveau portee sur cet elevage. Les analyses bacteriologiques des echantillons preleves dans cette ferme et les investigations epidemiologiques ont montre que l'epidemie de 2002 etait liee au meme producteur que l'epidemie de 1999. Les 70 isolats humains de S. Enteritidis PT5 confirmee en 2002 ne representaient qu'une minorite de toutes les infections. Il est probable que plusieurs centaines d'infections soient survenues au cours de l'epidemie de 2002. Depuis aout 2001, les nouvelles vagues d'elevage n'etaient plus vaccinees contre Salmonella. Il est probable que ce changement ait cause la reapparition des infections a S. Enteritidis PT5. Des la fin du mois de septembre 2002, plus aucun œuf provenant de poules non traitees n'etait mis en vente. En octobre 2002, seul un isolat de S. Enteritidis PT5 a ete confirme dans la region.
Cigarette smoking affects alveolar macrophage function in vitamin D deficient and vitamin D sufficient mice
Authors: Nele Heulens, Hannelie Korf, Nele Cielen, Karolien Ciotkowski, Debby Thomas, Karen Maes, Chantal Mathieu, Marc Decramer, Ghislaine Gayan-Ramirez, Wim Janssens
Journal: American Journal of Respiratory and Critical Care Medicine (2013)
Decreased CD138 Expression in Myeloma Cells: A Potential Indicator of Poor Prognosis and Aberrant Differentiation,
Authors: Yawara Kawano, Shiho Fujiwara, Hiromichi Yuki, Hiro Tatetsu, Hiroshi Yamasaki, Akira Sakai, Yutaka Okuno, Hiroaki Mitsuya, Hiroyuki Hata
Journal: Blood (2011)
Pilot Study to Determine Feasibility of Conducting HBV and HCV Entire Population Screening in Mongolia
Authors: P. Bat-Ulzii, O. Lhagva-Ochir, D. Luvsanpurev, D. Boldbaatar, Z. Genden, B. Dashtseren, T. Batsukh, D. Yagaanbuyant, B. Dendev, N. Dashdorj, N. Dashdorj
Journal: Journal of Hepatology (2016)
Rivaroxaban Reduces Portal Hypertension in Cirrhotic Rats by Deactivating Hepatic Stellate Cells and Reducing Intrahepatic Microthrombosis
Authors: M. Vilaseca, C.I. López-Sanjurjo, E. Lafoz, H. García-Calderó, O. García-Irigoyen, M. Ávila, J.C. Reverter, J. Bosch, V. Hernández-Gea, J. Gracia-Sancho, J.C. Garcia-Pagan
Journal: Journal of Hepatology (2016)
Optimal dosing of a glycoprotein IIb/IIIa antagonist with simplified renal-based algorithm: pharmacodynamic and clinical findings from PARAGON B
Authors: CK Dyke, KW Mahaffey, LG Berdan, EM Ohman, LK Newby, RA Sparapani, PB Berger, N Kleiman, HD White, JS Hochman, Frans Van de Werf, PW Armstrong, RM Califf, RA Harrington, EJ Topol
Journal: Journal of the American College of Cardiology (2001)
Brain Water Contain is Dependent on Plasmatic Ammonemia Levels in Hyperammoniemic Encephalopathy, A Quantitative CT-Scan Study
Authors: N. Weiss, M. Rudler, M. Mallet, S. Tripon, S. Mouri, D. Galanaud, F. Mochel, L. Puybasset, D. Thabut
Journal: Journal of Hepatology (2016)
CTLA-4 is a Negative Regulator of T Cell Activation in Acute Liver Failure
Authors: W. Khamri, D. Abeles, T. Hou, A. Anderson, C. Bernsmeier, N. Vergis, G. Auzinger, W. Bernal, C. Willars, J. Robinson, G. Lombardi, D. Sansom, J. Wendon, M. Thursz, C. Antoniades
Journal: Journal of Hepatology (2016)
Velcade, Thalidomide, Dexamethasone and Panobinostat (VTD-P) for Patients with Relapsed and Relapsed/ Refractory Myeloma: Preliminary Results of the Muk-Six Phase I/IIa Trial
Authors: Rakesh Popat, Sarah Brown, Louise M Flanagan, James D. Cavenagh
Journal: Blood (2014)
Ablation of Histone Deacetylases 3 in Hepatocyte Inhibits Liver Regeneration and Induces Apoptosis in Mice
Authors: L. Zhang, X. Lu, X.-F. Lu, H.-J. Ji, Y.-J. Zhou, G. Guo, K.-T. Zhu, X.-Y. Cao, Y.-J. Shi
Journal: Journal of Hepatology (2016)
Resistance Analysis in 1284 Patients with Genotype 1 to 6 HCV Infection Treated with Sofosbuvir/Velpatasvir in the Phase 3 Astral-1, Astral-2, Astral-3 and Astral-4 Studies
Authors: C. Hezode, N. Reau, E. Svarovskaia, B.P. Doehle, K. Chodavarapu, H. Dvory-Sobol, J. Mcnally, A. Osinusi, D.M. Brainard, M.D. Miller, H. Mo, S. Roberts, J.G. O’leary
Journal: Journal of Hepatology (2016)
Analysis of the Frequency and Risk Factors Associated with Failure in Early Detection of Hepatocellular Carcinoma in a Surveillance Program in Patients with Cirrhosis
Authors: A. Mancebo, M.L. González-Diéguez, V. Cadahía, C.A. Navascués, A. Castaño, M. Varela, M. Rodríguez
Journal: Journal of Hepatology (2016)
Assessment of Rapid Test Kits to Detect HBsAg and Anti-HCV
Authors: G. Jargalsaikhan, O. Oidovsambuu, B. Dashtseren, D. Boldbaatar, Z. Genden, A. Tuya, A. Bungert, N. Dashdorj, N. Gurjav, N. Dashdorj
Journal: Journal of Hepatology (2016)
PD2.04 (also presented as P1.42): PEM/CBP/BEV Followed by Maintenance PEM/BEV in Hispanic Patients With NSCLC: Outcomes According to TS, ERCC1 and VEGF
Authors: Leonardo Rojas, Andrés F. Cardona, Oscar Arrieta, Beatriz Wills, Luis Corrales-Rodriguez, Hernán Carranza, Carlos Vargas, Jorge Otero, Claudio Martin, Mauricio Cuello, Carlos Ortiz, Rafael Rosell
Journal: Journal of Thoracic Oncology (2016)
Extra-Hepatic Replication and Infection of Hepatitis E Virus in Neuronal-Derived Cells
Authors: P. Behrendt, S. Drave, Y. Debing, D. Todt, M. Friesland, M. Engelmann, S. Walter, H. Wedemeyer, J. Neyts, E. Steinmann
Journal: Journal of Hepatology (2016)
European Ravs Database: Frequency and Characteristics of Ravs in Treatment-Naïve and DAA-Experienced Patients
Authors: S. Susser, J. Dietz, J. Vermehren, K.-H. Peiffer, S. Passmann, D. Perner, C. Berkowski, P. Ferenci, M. Buti, B. Müllhaupt, B. Hunyadi, H. Hinrichsen, S. Mauss, J. Petersen, P. Buggisch, A. Schober, G. Felten, D. Hüppe, A. Zipf, G. Knecht, T. Lutz, T. Berg, S. Zeuzem, C. Sarrazin
Journal: Journal of Hepatology (2016)
Societal threat as a moderator of cultural group selection
Authors: Michele J Gelfand, Patrick Roos, Dana Nau, Jesse Harrington, Yan Mu, Joshua Jackson
Journal: Behavioral and Brain Sciences (2016)

As scholars have rushed to either prove or refute cultural group selection (CGS), the debate lacks sufficient consideration of CGS's potential moderators. We argue that pressures for CGS are particularly strong when groups face ecological and human-made threat. Field, experimental, computational, and genetic evidence are presented to substantiate this claim.
Cognitive Impairment Predicts the Occurrence of Hepatic Encephalopathy after Transjugular Intrahepatic Portosysthemic Shunt
Authors: S. Nardelli, S. Gioia, C. Pasquale, I. Pentassuglio, A. Farcomeni, M. Merli, L. Nikolli, V. Nicoletti, S. Torrisi, F. Greco, O. Riggio
Journal: Journal of Hepatology (2016)
The initial biopsy Gleason score as a predictive marker for docetaxel survival benefit in patients with prostate cancer: Data from the TAX 327 study.
Authors: Robert van Soest, Ellen de Morrée, Liji Shen, Ian Tannock, Mario A. Eisenberger, Ronald De Wit
Journal: Journal of Clinical Oncology (2013)

44 Background: The TAX 327 study was conducted in 1,006 men with metastatic castration-resistant prostate cancer (mCRPC) who were randomized to receive 3-weekly docetaxel (D3), weekly docetaxel (D1) or 3-weekly mitoxantrone (M), each with prednisone. Survival and symptom control were superior following D3 as compared to M. In this post-hoc analysis we aimed to identify factors that could characterize subgroups of patients who obtained the greatest benefit from the use of D3 as compared to M. Methods: The TAX 327 database was used to investigate if patients with poorly differentiated tumors (Gleason 7-10) at diagnosis had greater benefit from D3 as compared to M, than patients with better differentiated tumors (Gleason ≤6). Using a Cox model, we compared overall survival (OS) between the treatment groups within each subgroup of Gleason score. Results: Baseline characteristics known to predict OS including visceral metastasis and time from first hormonal treatment to the start of chemotherapy were well balanced between patient groups, except for an imbalance in the small group of patients with impaired Karnofsky performance score (PS) (see table). The TAX 327 data showed that the OS benefit of D3 versus M is greater in patients with high grade tumors (median OS 18.9 vs 14.5 months) than in patients with low grade tumors (median OS 21.6 vs 20.7 months). Conclusions: The survival benefit obtained with docetaxel as compared to mitoxantrone is greater in patients with high Gleason score tumors. Although this finding is hypothesis-generating and needs confirmation in other trials, it may provide additional guidance in treatment decisions regarding the use of chemotherapy as first line treatment for patients with mCRPC. [Table: see text]
Response to Comment on Almurdhi et al. Reduced Lower-Limb Muscle Strength and Volume in Patients With Type 2 Diabetes in Relation to Neuropathy, Intramuscular Fat, and Vitamin D Levels. Diabetes Care 2016;39:441–447
Authors: Monirah M. Almurdhi, Neil D. Reeves, Frank L. Bowling, Andrew J.M. Boulton, Maria Jeziorska, Rayaz A. Malik
Journal: Diabetes Care (2016)

We thank Treiber et al. (1) for sharing their data in relation to a greater prevalence of painful neuropathy and slower walking speeds in their patients taking a statin. They suggest that some of the differences observed in our study (2) could be explained by treatment with statins. We have used our data to assess if statins may contribute to lower-limb weakness or muscle atrophy and neuropathy.

We have compared our study parameters between patients with type 2 diabetes mellitus (T2DM) on a statin ( n = 16) to those who were not on a statin ( n = 4). The interpretation of our data is limited and cautious because of the small number of patients not …
Circulating Microparticles and Risk of Portal Vein Thrombosis in Patients with Liver Cirrhosis and Hepatocellular Carcinoma
Authors: A. Zanetto, A. Ferrarese, E. Nadal, I. Bortoluzzi, E. Campello, L. Spiezia, U. Cillo, A. Vitale, F. Farinati, G. Germani, F.P. Russo, P. Simioni, P. Burra, M. Senzolo
Journal: Journal of Hepatology (2016)
Immunotherapy using T Cells Redirected against HBV Results in Reduced Viral Loads and Enhanced Immune Responses in Humanized Mice
Authors: J. Kah, S. Koh, T. Volz, L. Allweiss, A.W. Lohse, M. Lütgehetmann, A. Bertoletti, M. Dandri
Journal: Journal of Hepatology (2016)
Ten year experience of esophageal endoscopic submucosal dissection of superficial esophageal neoplasms in a single center.
Authors: Hyungchul Park, Do Hoon Kim, Eun Jeong Gong, Hee Kyong Na, Ji Yong Ahn, Jeong Hoon Lee, Kee Wook Jung, Kee Don Choi, Ho June Song, Gin Hyug Lee, Hwoon-Yong Jung, Jin-Ho Kim
Journal: Journal of Clinical Oncology (2016)

104 Background: Endoscopic submucosal dissection (ESD) of a superficial esophageal neoplasm (SEN) is a technically difficult procedure. We investigated the clinical outcomes of ESD to determine its feasibility and effectiveness for the treatment of SEN. Methods: Patients who underwent ESD for SEN between August 2005 and June 2014 were eligible for this study. The clinical features of patients and tumors, histopathologic characteristics, adverse events, results of endoscopic resection, and survival were investigated. Results: ESD was performed in 225 patients with 261 lesions, including 70 cases (26.8%) of dysplasias and 191 cases (73.2%) of squamous cell carcinomas. The median age was 65 years (range: 44–86 years), and the male to female ratio was 21.5:1. Median tumor size was 37 mm (range: 5–85 mm) and median procedure time was 45 minutes (range: 9–160 minutes). En bloc resection was performed in 245 of 261 lesions (93.9%), with complete resection in 234 lesions (89.7%) and curative resection in 201 lesions (77.0%). Adverse events occurred in 33 cases (12.6%), including bleeding (1.5%), perforation (4.6%), and stricture (6.5%). During a median follow-up period of 35.0 months (interquartile range: 18–62 months), none of the patients showed local recurrence. The 5-year overall and disease-specific survival rates were 89.7% and 100%, respectively. Conclusions: ESD is a feasible and effective procedure for the treatment of SEN based on our 10-year experience, which showed favorable outcomes.
Antifibrotic Effects of Combined Treatment with Farnesoid X Receptor Agonist and Angiotensin-II Type1 Receptor Blocker on Hepatic Fibrogenesis in the Rat Model of Nonalcoholic Steatohepatitis
Authors: T. Namisaki, Y. Okura, S. Sato, R. Noguchi, K. Moriya, M. Kitade, K. Takeda, N. Nishimura, Y. Sawada, K. Seki, H. Kawaratani, K. Kaji, H. Yoshiji
Journal: Journal of Hepatology (2016)
Persistence to Entecavir Treatment for Chronic Hepatitis B in a Real-Life Setting: 2 Year Results of a German Prospective Multicentre Observational Study
Authors: J. Petersen, T. Wilke, S. Mauss, R. Heyne, C. Herold, M. Wiese, K. Böker, T. Pichl, A. Meier, D. Hüppe
Journal: Journal of Hepatology (2016)
Evaluation of the GeneXpert Assay for the Monitoring of BCR-ABL Transcript Levels In Chronic Myeloid Leukemia (CML) Patients: Preliminary Results of a Comparison with the Manual and Traditional Manual TaqMan RQ-PCR Assay
Authors: Marco Suriano, Giovanni Martinelli, Angela Poerio, Marilina Amabile, Gianantonio Rosti, Fausto Castagnetti, Ilaria Iacobucci, Simona Soverini, Annalisa Lonetti, Cristina Papayannidis, Mariachiara Abbenante, Sarah Parisi, Francesca Palandri, Michele Baccarani
Journal: Blood (2010)