tbuckley/cabot-search huggingface dataset:
ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia—update on methodological approaches and results interpretation
Authors: J. Malcikova, E. Tausch, D. Rossi, L. A. Sutton, T. Soussi, T. Zenz, A. P. Kater, C. U. Niemann, D. Gonzalez, F. Davi, M. Gonzalez Diaz, C. Moreno, G. Gaidano, K. Stamatopoulos, R. Rosenquist, S. Stilgenbauer, P. Ghia, S. Pospisilova
Journal: Leukemia (2018)

In chronic lymphocytic leukemia (CLL), TP53 gene defects, due to deletion of the 17p13 locus and/or mutation(s) within the TP53 gene, are associated with resistance to chemoimmunotherapy and a particularly dismal clinical outcome. On these grounds, analysis of TP53 aberrations has been incorporated into routine clinical diagnostics to improve patient stratification and optimize therapeutic decisions. The predictive implications of TP53 aberrations have increasing significance in the era of novel targeted therapies, i.e., inhibitors of B-cell receptor (BcR) signaling and anti-apoptotic BCL2 family members, owing to their efficacy in patients with TP53 defects. In this report, the TP53 Network of the European Research Initiative on Chronic Lymphocytic Leukemia (ERIC) presents updated recommendations on the methodological approaches for TP53 mutation analysis. Moreover, it provides guidance to ensure that the analysis is performed in a timely manner for all patients requiring treatment and that the data is interpreted and reported in a consistent, standardized, and accurate way. Since next-generation sequencing technologies are gaining prominence within diagnostic laboratories, this report also offers advice and recommendations for the interpretation of TP53 mutation data generated by this methodology.
A Case of Possible Pacemaker Malfunction
Authors: Salman Rahman, Arvind Nishtala, Nora Goldschlager
Journal: JAMA Internal Medicine (2018)

This case report presents the electrocardiographic findings from a man in his 50s with a dual-chamber pacemaker implanted for sinus node dysfunction who had severe back pain, fevers, drenching night sweats, and weight loss.
Granulomonocytic progenitors are key target cells of azacytidine in higher risk myelodysplastic syndromes and acute myeloid leukemia
Authors: Ashfaq Ali, Justine Penneroux, Reinaldo Dal Bello, Aline Massé, Samuel Quentin, Ashwin Unnikrishnan, Lucie Hernandez, Emmanuel Raffoux, Raouf Ben Abdelali, Aline Renneville, Claude Preudhomme, John Pimanda, Hervé Dombret, Jean Soulier, Pierre Fenaux, Emmanuelle Clappier, Lionel Adès, Alexandre Puissant, Raphael Itzykson
Journal: Leukemia (2018)
DNA methylation in childhood asthma: an epigenome-wide meta-analysis
Authors: Cheng-Jian Xu, Cilla Söderhäll, Mariona Bustamante, Nour Baïz, Olena Gruzieva, Ulrike Gehring, Dan Mason, Leda Chatzi, Mikel Basterrechea, Sabrina Llop, Maties Torrent, Francesco Forastiere, Maria Pia Fantini, Karin C Lødrup Carlsen, Tari Haahtela, Andréanne Morin, Marjan Kerkhof, Simon Kebede Merid, Bianca van Rijkom, Soesma A Jankipersadsing, Marc Jan Bonder, Stephane Ballereau, Cornelis J Vermeulen, Raul Aguirre-Gamboa, Johan C de Jongste, Henriette A Smit, Ashish Kumar, Göran Pershagen, Stefano Guerra, Judith Garcia-Aymerich, Dario Greco, Lovisa Reinius, Rosemary R C McEachan, Raf Azad, Vegard Hovland, Petter Mowinckel, Harri Alenius, Nanna Fyhrquist, Nathanaël Lemonnier, Johann Pellet, Charles Auffray, Pieter van der Vlies, Cleo C van Diemen, Yang Li, Cisca Wijmenga, Mihai G Netea, Miriam F Moffatt, William O C M Cookson, Josep M Anto, Jean Bousquet, Tiina Laatikainen, Catherine Laprise, Kai-Håkon Carlsen, Davide Gori, Daniela Porta, Carmen Iñiguez, Jose Ramon Bilbao, Manolis Kogevinas, John Wright, Bert Brunekreef, Juha Kere, Martijn C Nawijn, Isabella Annesi-Maesano, Jordi Sunyer, Erik Melén, Gerard H Koppelman
Journal: The Lancet Respiratory Medicine (2018)
Breast cancer brain metastases show increased levels of genomic aberration-based homologous recombination deficiency scores relative to their corresponding primary tumors
Authors: M. Diossy, L. Reiniger, Z. Sztupinszki, M. Krzystanek, K.M. Timms, C. Neff, C. Solimeno, D. Pruss, A.C. Eklund, E. Tóth, O. Kiss, O. Rusz, G. Cserni, T. Zombori, B. Székely, J. Kulka, J. Tímár, I. Csabai, Z. Szallasi
Journal: Annals of Oncology (2018)

BackgroundBased on its mechanism of action, PARP inhibitor therapy is expected to benefit mainly tumor cases with homologous recombination deficiency (HRD). Therefore, identification of tumor types with increased HRD is important for the optimal use of this class of therapeutic agents. HRD levels can be estimated using various mutational signatures from next generation sequencing data and we used this approach to determine whether breast cancer brain metastases show altered levels of HRD scores relative to their corresponding primary tumor.Patients and methodsWe used a previously published next generation sequencing dataset of 21 matched primary breast cancer/brain metastasis pairs to derive the various mutational signatures/HRD scores strongly associated with HRD. We also carried out the myChoice HRD analysis on an independent cohort of 17 breast cancer patients with matched primary/brain metastasis pairs.ResultsAll of the mutational signatures indicative of HRD showed a significant increase in the brain metastases relative to their matched primary tumor in the previously published whole exome sequencing dataset. In the independent validation cohort, the myChoice HRD assay showed an increased level in 87.5% of the brain metastases relative to the primary tumor, with 56% of brain metastases being HRD positive according to the myChoice criteria.ConclusionsThe consistent observation that brain metastases of breast cancer tend to have higher HRD measures may raise the possibility that brain metastases may be more sensitive to PARP inhibitor treatment. This observation warrants further investigation to assess whether this increase is common to other metastatic sites as well, and whether clinical trials should adjust their strategy in the application of HRD measures for the prioritization of patients for PARP inhibitor therapy.
Treating and Preventing HIV with Generic Drugs — Barriers in the United States
Authors: Erika G. Martin, Bruce R. Schackman
Journal: New England Journal of Medicine (2018)

Treating and Preventing HIV with Generic Drugs Most of the discussion about the availability of generic HIV drugs focuses on low- and middle-income countries. In the United States, numerous legal, clinical, and market factors create barriers to the adoption of generics as well as uncertainty about cost savings.
Efficacité clinique du dispositif anti-migration des prothèses métalliques totalement couvertes auto-expansives utilisées dans les sténoses biliaires anastomotiques post transplantation hépatique: comparaison des prothèses «standards» et «anti-migration»
Authors: B Bordacahar, F Perdigao, S Leblanc, M Barret, JC Duchmann, MA Guillaumot, S Chaussade, O Scatton, F Prat
Journal: Endoscopy (2018)

Les sténoses biliaires anastomotiques (SBA) sont l'une des complications les plus fréquentes survenant après transplantation hépatique orthotopique (THO). L'appareillage par prothèses plastiques multiples au cours d'une cholangio-pancréatografie rétrograde endoscopique (CPRE) a été validé depuis longtemps dans cette indication. Plus récemment, l'utilisation de prothèses métalliques auto-expansives totalement couvertes (PMTC) a montré des résultats positifs mais au prix d'un taux de migration plus important pouvant limiter leur efficacité.
Admixture Mapping of Total Serum IgE in African American subjects from CAAPA
Authors: Michelle Daya, Aniket Shetty, Nicholas M. Rafaels, Victor E. Ortega, Eugene R. Bleecker, Deborah A. Meyers, Carole Ober, L. Keoki Williams, Margaret A. Taub, Terri H. Beaty, Ingo Ruczinski, Rasika A. Mathias, Kathleen C. Barnes
Journal: Journal of Allergy and Clinical Immunology (2018)
Fine-tuning of FOXO3A in cHL as a survival mechanism and a hallmark of abortive plasma cell differentiation
Authors: Clarissa D. Osswald, Linka Xie, Hanfeng Guan, Franziska Herrmann, Sarah M. Pick, Marion J. Vogel, Franziska Gehringer, Fong Chun Chan, Christian Steidl, Thomas Wirth, Alexey Ushmorov
Journal: Blood (2018)
P2.06-033 Long-Term Safety and Efficacy of Darbepoetin Alfa in Subjects with Advanced Stage NSCLC Receiving Multi-Cycle Chemotherapy
Authors: Julia Gage, Pere Gascón, Rajnish Nagarkar, Martin Šmakal, Kostas Syrigos, Carlos Barrios, Jesús Cárdenas Sánchez, Li Zhang, David Henry, Alex Fleishman, Cisio De Oliveira Brandao
Journal: Journal of Thoracic Oncology (2017)
Is Depression an Important New Mortality Risk Factor After Aortic Valve Replacement or Simply a Component of the Geriatric Disease Spectrum?
Authors: Amisha Patel, Martin B. Leon
Journal: JAMA Cardiology (2018)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA Cardiology HomeNew OnlineCurrent IssueFor Authors Podcast Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA Cardiology journal
Now I Walk
Authors: Carol Snyder Halberstadt
Journal: JAMA (2018)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA HomeNew OnlineCurrent IssueFor Authors Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA journal
US public health chief resigns over tobacco investments
Authors: Owen Dyer
Journal: BMJ (2018)

Brenda Fitzgerald, President Trump’s appointment to lead the US Centers for Disease Control and Prevention (CDC), has resigned after just six months in the role, after revelations of a tobacco stock purchase early in her tenure.

Many observers said that news of the tobacco investment, revealed by the Politico news website, was the last straw for an administrator who had already officially recused herself from much of a CDC director’s normal role because of financial conflicts of interest.

An ethics agreement Fitzgerald signed soon after taking up the post last July noted that, for contractual reasons, she could …
Vaccination without Litigation — Addressing Religious Objections to Hospital Influenza-Vaccination Mandates
Authors: Douglas J. Opel, James A. Sonne, Michelle M. Mello
Journal: New England Journal of Medicine (2018)

Vaccination without Litigation Three times in the past 2 years, the Equal Employment Opportunity Commission has intervened to challenge vaccination mandates for health care workers, causing unease among the growing number of hospitals with mandatory influenza-vaccination policies.
Fungal fragmentation influences pulmonary immune responses following repeated exposure to Stachybotrys chartarum
Authors: Tara L. Croston, Brett J. Green, Angela R. Lemons, Mark A. Barnes, William T. Goldsmith, Marlene S. Orandle, Ajay P. Nayak, Benjamin P. Jackson, Dori R. Germolec, Donald H. Beezhold
Journal: Journal of Allergy and Clinical Immunology (2018)
Simple Models and Ice Bucket Challenge Fuel Progress in ALS Treatment
Authors: Bridget M. Kuehn
Journal: JAMA (2018)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA HomeNew OnlineCurrent IssueFor Authors Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA journal
Abstract 19777: How Physiological is Adenosine-Induced Hyperaemia? Insights From Exercise in the Catheterisation Laboratory
Authors: Matthew Ryan, Bhavik Modi, Satpal Arri, Kaleab Asrress, Matthew Lumley, Rupert Williams, Howard Ellis, Brian Clapp, Michael Marber, Simon Redwood, Divaka Perera
Journal: Circulation (2016)

Introduction:  Fractional flow reserve during adenosine-induced hyperaemia (FFR) is frequently considered a surrogate for inducible myocardial ischaemia on exercise; however it is unclear whether the stresses are comparable.   Hypothesis:  The mechanism of flow augmentation with exercise is different to that of adenosine.   Methods:  Patients undergoing coronary angiography were assessed with a dual pressure-flow sensing intracoronary wire at rest, whilst performing on-table supine bicycle ergometry and during adenosine-induced hyperaemia. Aortic pressure (P a ) ,  distal coronary pressure (P d ) and flow velocity were recorded at peak exercise and hyperaemia. Mean P d /P a  was calculated for both stresses (FFR, exercise P d /P a ). Wave intensity analysis was used to investigate the mechanisms governing flow.   Results:  Forty-two patients performed the protocol, attaining a mean heart rate of 75% of age predicted maximum. Rate pressure product (reflecting myocardial work) rose from 11x10 3 ±3x10 3  bpm.mmHg at rest to 13x10 3 ±3x10 3  bpm.mmHg with adenosine and 21x10 3 ±7x10 3  bpm.mmHg with exercise. Mean FFR and exercise P d /P a  were similar (0.88±0.08 vs. 0.90±0.09, p=0.131), but only moderately correlated (Spearman’s rho 0.57) (figure 1).  Doppler flow velocity was assessed throughout in 18 patients. Mean velocity increased from 18.1±6.3cms -1  at rest to 38.7±16.8cms -1  with adenosine and 28.1±7.4cms -1  with exercise. Coronary perfusion was more efficient during exercise (84±6% of total wave energy accelerating flow) than adenosine hyperaemia (77±12%, p = 0.02). This was due to augmentation of diastolic suction, with the backward expansion wave contributing 58±11% of total wave energy during exercise compared with 50±10% during adenosine (p = 0.02).   Conclusions:  Adenosine decreases microvascular resistance but does not reproduce the complex cardiac-coronary coupling that occurs with exercise. This may explain why FFR does not correlate well with P d /P a  during exercise.
Inhibition of colon cancer cells by Ganoderma lucidum triterpenes.
Authors: Anita Thyagarajan, Hai Nguyen, Andrej Jedinak, Daniel Sliva
Journal: Cancer Research (2008)

5472  Medicinal mushroom Ganoderma lucidum (Reishi, Lingzhi) has been used in the traditional Chinese medicine for more then two thousand years. Our previous studies have shown that Ganoderma lucidum extract(GLE), which contains 13% of polysaccharides (GLP) and 6% of triterpenes (GLT), is able to inhibit the proliferation, angiogenesis and invasiveness of breast and prostate cancer cells. In the present study we evaluated and correlated in vivo effects of GLT with cells growing under two- and three-dimensional (2D, 3D) cell culture conditions in vitro. Therefore, GLT markedly suppressed tumor growth in xenograft model of human colon cancer HT-29 cells injected into nude mice and inhibited proliferation of HT-29 cells in vitro. This effect was associated with the down-regulation of expression of Ki-67 and cyclin D1 in colon tumors, and cell cycle arrest of HT-29 cells at the G0/G1 phase. In addition, GLT down-regulated expression of cdk4 and suppressed phosphorylation of AKT. Furthermore, GLT induced apoptosis in colon tumors and colon cancer cells and inhibited β-catenin and NF-κB. In summary, our data suggest that mushroom triterpenoids, particularly GLT, could modulate intracellular signaling, which will eventually lead to the inhibition of growth and induction of apoptosis of colon cancer cells in vitro and in vivo. Further studies are necessary to evaluate this mushroom extract for the adjuvant or nutritional preventive or therapeutic interventions against colon cancer.
Résultats de la Dilatation Endoscopique dans le Syndrome de Plummer Vinson
Authors: A Chakkor, M Salihoun, M Acharki, N Kabbaj
Journal: Endoscopy (2018)

Le syndrome de Plummer Vinson (SPV) ou Kelly Paterson est une entité rare définie par l'association d'une dysphagie haute, une anémie ferriprive et un anneau fibreux de l'oesophage cervical. Bien que la correction de la sidéropénie puisse améliorer ces symptômes, la dilatation endoscopique du diaphragme oesophagien est souvent nécessaire. L'objectif principal de notre travail est d'analyser les résultats du traitement endoscopique et secondairement d'étudier les caractéristiques épidémiologiques, cliniques, endoscopiques du SPV.
Mortality due to KPC carbapenemase-producing Klebsiella pneumoniae infections: Systematic review and meta-analysis
Authors: Jorge A. Ramos-Castañeda, Alberto Ruano-Ravina, Raquel Barbosa-Lorenzo, Jaime E. Paillier-Gonzalez, Javier C. Saldaña-Campos, Diego F. Salinas, Elkin V. Lemos-Luengas
Journal: Journal of Infection (2018)
Abstract 13613: 4D Echo-Derived Global Area Strain is a Better Mechanical Index of RV Function
Authors: Kacie Amacher, Meihua Zhu, Muhammad Ashraf, David J Sahn
Journal: Circulation (2015)

Introduction: There is increasing interest in image based evaluation of RV mechanics. Hypothesis: Four-dimensional echocardiography (4DE) accurately assesses RV function, compared against sonomicrometry. Methods: Six porcine RV models were studied. Each RV was connected to a pump apparatus to generate pulsatile motion. Six sonomicrometry (sono) crystals were sutured in a triangle formation onto the RV to acquire volume. Right ventricular ejection fraction (RVEF), 3D global area strain (GAS), global circumferential strain (GCS), global longitudinal strain (GLS), and global radial strain (GRS) were obtained by 4D echocardiography at stroke volumes of 30-70 ml. Results were correlated with RVEF determined by sonomicrometry analysis. Results: Linear regression of all EchoPAC-derived parameters, RVEF, GAS, GCS, GLS, and GRS showed strong correlations with RVEF from sono data (r = 0.73, r = 0.78, r = 0.72, r = 0.75, r = 0.75, respectively; all P &lt; 0.001). Bland-Altman analyses showed a slight over-estimation of echo-derived 3D RVEF and strain when compared to sono-derived EF, but more than 95% of data points were within the limits of agreement. Conclusions: 4DE demonstrates the ability to accurately and feasibly assess RV function, and GAS showed the highest correlation with the reference ejection fraction.
Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy
Authors: Eugenio Mercuri, Basil T. Darras, Claudia A. Chiriboga, John W. Day, Craig Campbell, Anne M. Connolly, Susan T. Iannaccone, Janbernd Kirschner, Nancy L. Kuntz, Kayoko Saito, Perry B. Shieh, Már Tulinius, Elena S. Mazzone, Jacqueline Montes, Kathie M. Bishop, Qingqing Yang, Richard Foster, Sarah Gheuens, C. Frank Bennett, Wildon Farwell, Eugene Schneider, Darryl C. De Vivo, Richard S. Finkel
Journal: New England Journal of Medicine (2018)

Nusinersen is an antisense oligonucleotide drug that modulates pre–messenger RNA splicing of the survival motor neuron 2 (SMN2) gene. It has been developed for the treatment of spinal muscular atrophy (SMA).
Intérêt de la coloscopie dans la prise en charge des hémorragies digestives basses: étude rétrospective monocentrique
Authors: N Djabri, M Boumendjel, Z Kassama, F Boutra, MA Haouam, F Boucenna, T Hammada
Journal: Endoscopy (2018)

En présence d'hémorragie digestive basse, la colonoscopie en urgence est indiquée, car elle permet un diagnostic étiologique chez 2/3 des patients en moyenne, et un traitement endoscopique dans environ 20% des cas.
A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism
Authors: Fabio L. Fernandes-Rosa, Georgios Daniil, Ian J. Orozco, Corinna Göppner, Rami El Zein, Vandana Jain, Sheerazed Boulkroun, Xavier Jeunemaitre, Laurence Amar, Hervé Lefebvre, Thomas Schwarzmayr, Tim M. Strom, Thomas J. Jentsch, Maria-Christina Zennaro
Journal: Nature Genetics (2018)
Lipopepsomes: A novel and robust family of nano-vesicles capable of highly efficient encapsulation and tumor-targeted delivery of doxorubicin hydrochloride in vivo
Authors: Min Qiu, Huanli Sun, Fenghua Meng, Ru Cheng, Jian Zhang, Chao Deng, Zhiyuan Zhong
Journal: Journal of Controlled Release (2018)