tbuckley/cabot-search huggingface dataset:
Atrioventricular Dissociation in a Heart Transplant Recipient
Authors: Joel Morillo, Eusebio García-Izquierdo Jaén, Ignacio Fernández Lozano
Journal: JAMA Internal Medicine (2021)

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 Internal Medicine 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 Internal Medicine journal
Abstract 11611: Predictive Value of Polygenic Risk Scores for Coronary Heart Disease in Three Racial/Ethnic Groups
Authors: Ozan Dikilitas, Daniel J Schaid, Matthew L Kosel, Christopher G Chute, Gail P Jarvik, Joshua C Denny, Robert J Carroll, C Michael Stein, Wei-Qi Wei, QiPing Feng, Georgia L Wiesner, Jennifer A Pacheco, Ming Ta Michael Lee, Yanfei Zhang, Alex Fedotov, Hakon Hakonarson, Amy C Sturm, Marc S Williams, Patrick M Sleiman, Teri A Manolio, Iftikhar J Kullo
Journal: Circulation (2019)

Background: Polygenic risk scores (PRS) for coronary heart disease (CHD) are derived from European ancestry (EA) cohorts, but their predictive value in African ancestry (AA) and Hispanic ethnicity ...
Apabetalone (RVX-208) Reduces ACE2 Expression in Human Cell Culture Systems, Which Could Attenuate SARS-CoV-2 Viral Entry
Authors: D. Gilham, L. Fu, L. M. Tsujikawa, B. Rakai, S. Wasiak, S. Stotz, C. Sarsons, M. Sweeney, J. Johansson, N. Wong, E. Kulikowski
Journal: Circulation (2020)
特徴的な臨床像を呈したPure RV infarctionの2症例
Authors: 貫敏章, 東谷迪昭, 長嶋道貴, 谷崎剛平, 内田吉枝, 亀山欽一, 森文章, 高木厚, 鶴見由起夫, 萩原誠久, 笠貫宏
Journal: Circulation (2008)
Prevalence and Outcomes Among Hospitalized Patients With Covid-19 and Atrial Fibrillation or Flutter
Authors: Z. Ghazizadeh, C. Gier, A. Singh, L. Vadlamani, M. Eder, J. Pacor, J. Park, M. Pareek, Z. Ahmed, K. G. Smolderen, J. L. Meadows, T. Ahmad, N. R. Desai, R. J. Lampert, J. V. Freeman
Journal: Circulation (2020)
Quantitative phosphoproteomic analysis of IRS1 in skeletal muscle from men with normal glucose tolerance or type 2 diabetes: A case-control study
Authors: Håkan K.R. Karlsson, Akiko Kasahara, Mika Ikeda, Alexander V. Chibalin, Jun Harada, Mikael Rydén, Anna Krook, Mitsunori Kato, Kazuishi Kubota, Juleen R. Zierath
Journal: Metabolism (2021)

Background & aimsThe physiological regulation and contribution of the multiple phosphorylation sites of insulin receptor substrate 1 (IRS1) to the pathogenesis of insulin resistance is unknown. Our aims were to map the phosphorylated motifs of IRS1 in skeletal muscle from people with normal glucose tolerance (NGT; n = 11) or type 2 diabetes mellitus (T2DM; n = 11).MethodsSkeletal muscle biopsies were obtained under fasted conditions or during a euglycemic clamp and IRS1 phosphorylation sites were identified by mass spectrometry.ResultsWe identified 33 phosphorylation sites in biopsies from fasted individuals, including 2 previously unreported sites ([Ser393] and [Thr1017]). In men with NGT and T2DM, insulin increased phosphorylation of 5 peptides covering 10 serine or threonine sites and decreased phosphorylation of 6 peptides covering 9 serine, threonine or tyrosine sites. Insulin-stimulation increased phosphorylation of 2 peptides, and decreased phosphorylation of 2 peptides only in men with NGT. Insulin increased phosphorylation of 2 peptides only in men with T2DM.ConclusionsDespite severe skeletal muscle insulin resistance, the pattern of IRS1 phosphorylation was not uniformly altered in T2DM. Our results contribute to the evolving understanding of the physiological regulation of insulin signaling and complement the comprehensive map of IRS1 phosphorylation in T2DM.
An outbreak investigation of Legionella non-pneumophila Legionnaires’ disease in Sweden, April to August 2018: Gardening and use of commercial bagged soil associated with infections
Authors: Emma Löf, Fanny Chereau, Pontus Jureen, Sabina Andersson, Kristina Rizzardi, Petra Edquist, Sharon Kühlmann-Berenzon, Ilias Galanis, Caroline Schönning, Madeleine Kais, Anne Tideholm Nylén, Anders Wallensten, Adam Roth
Journal: Eurosurveillance (2021)

In early June 2018, an increase in non-travel-related cases of Legionella non- pneumophila Legionnaires’ disease (LD) was observed in Sweden and a national outbreak investigation was started. Outbreak cases were defined as notified confirmed or probable cases of L. non- pneumophila LD, with symptom onset after 1 April 2018. From April to August 2018, 41 cases were reported, 30 of whom were identified as L. longbeachae. We conducted a case–control study with 27 cases and 182 matched controls. Results from the case–control study indicated that gardening and handling commercial bagged soil, especially dusty dry soil, were associated with disease. L. longbeachae was isolated in soils from cases’ homes or gardens, but joint analysis of soil and human specimens did not identify any genetic clonality. Substantial polyclonality was noted between and within soil samples, which made finding a genetic match between soil and human specimens unlikely. Therefore, whole genome sequencing may be of limited use to confirm a specific soil as a vehicle of transmission for L. longbeachae. Handling soil for residential gardening was associated with disease and the isolation of L. longbeachae in different soils provided further evidence for Legionella non -pneumophila infection from soil.
EBF1 and PAX5 control pro-B cell expansion via opposing regulation of the <i>Myc</i> gene
Authors: Rajesh Somasundaram, Christina T. Jensen, Johanna Tingvall-Gustafsson, Josefine Åhsberg, Kazuki Okuyama, Mahadesh Prasad, James R. Hagman, Xun Wang, Shamit Soneji, Tobias Strid, Jonas Ungerbäck, Mikael Sigvardsson
Journal: Blood (2021)
Regional Heterogeneity in the Coronary Vascular Response in Women With Chest Pain and Nonobstructive Coronary Artery Disease
Authors: Malik Elharram, Elizabeth Hillier, Selwynne Hawkins, Yoko Mikami, Bobak Heydari, Naeem Merchant, James A. White, Todd Anderson, Matthias G. Friedrich, Louise Pilote
Journal: Circulation (2021)
Adenoma Detection Rate (ADR) Irrespective of Indication Is Comparable to Screening ADR: Implications for Quality Monitoring
Authors: Tonya Kaltenbach, Andrew Gawron, Craig S Meyer, Samir Gupta, Amandeep Shergill, Jason A Dominitz, Roy M Soetikno, Tiffany Nguyen-Vu, Mary A Whooley, Charles J Kahi
Journal: Clinical Gastroenterology and Hepatology (2021)
Disseminated cancer cells in breast cancer: Mechanism of dissemination and dormancy and emerging insights on therapeutic opportunities
Authors: Ganesan Ramamoorthi, Krithika Kodumudi, Corey Gallen, Nadia Nocera Zachariah, Amrita Basu, Gabriella Albert, Amber Beyer, Colin Snyder, Doris Wiener, Ricardo L B Costa, Brian J Czerniecki
Journal: Seminars in Cancer Biology (2021)
GAS7 Deficiency Promotes Metastasis in MYCN-Driven Neuroblastoma
Authors: Zhiwei Dong, Kok Siong Yeo, Gonzalo Lopez, Cheng Zhang, Erin N. Dankert Eggum, Jo Lynne Rokita, Choong Yong Ung, Taylor M. Levee, Zuag Paj Her, Cassie J. Howe, Xiaonan Hou, Janine H. van Ree, Shuai Li, Shuning He, Ting Tao, Karen Fritchie, Jorge Torres-Mora, Julia S. Lehman, Alexander Meves, Gina L. Razidlo, Komal S. Rathi, S. John Weroha, A. Thomas Look, Jan M. van Deursen, Hu Li, Jennifer J. Westendorf, John M. Maris, Shizhen Zhu
Journal: Cancer Research (2021)

One of the greatest barriers to curative treatment of neuroblastoma is its frequent metastatic outgrowth prior to diagnosis, especially in cases driven by amplification of the MYCN oncogene. However, only a limited number of regulatory proteins that contribute to this complex MYCN-mediated process have been elucidated. Here we show that the growth arrest-specific 7 (GAS7) gene, located at chromosome band 17p13.1, is preferentially deleted in high-risk MYCN-driven neuroblastoma. GAS7 expression was also suppressed in MYCN-amplified neuroblastoma lacking 17p deletion. GAS7 deficiency led to accelerated metastasis in both zebrafish and mammalian models of neuroblastoma with overexpression or amplification of MYCN. Analysis of expression profiles and the ultrastructure of zebrafish neuroblastoma tumors with MYCN overexpression identified that GAS7 deficiency led to (i) downregulation of genes involved in cell-cell interaction, (ii) loss of contact among tumor cells as critical determinants of accelerated metastasis, and (iii) increased levels of MYCN protein. These results provide the first genetic evidence that GAS7 depletion is a critical early step in the cascade of events culminating in neuroblastoma metastasis in the context of MYCN overexpression. SIGNIFICANCE: Heterozygous deletion or MYCN-mediated repression of GAS7 in neuroblastoma releases an important brake on tumor cell dispersion and migration to distant sites, providing a novel mechanism underlying tumor metastasis in MYCN-driven neuroblastoma.See related commentary by Menard, p. 2815.
Abstract PS16-18: Inhibition of mTOR signaling by rapamycin abrogates mammary stem/progenitor cell activity in aged mice
Authors: Larry E. Broome, Hakim Bouamar, James F. Nelson, Lu-Zhe Sun
Journal: Cancer Research (2021)

Abstract Previous studies have shown an altered physiology in the mammary gland of aged mice, with mammary ducts displaying increased tertiary branching along with an enriched myoepithelial population compared to younger mice. It is the population of myoepithelial cells residing in the basal layer of mammary ducts that is thought to be responsible for the development of the mammary gland. These qualities have been attributed to the mammary stem cells (MaSCs) that reside in this population and are capable of regenerating the mammary gland when implanted in an empty mammary fat pad, indicating their bipotent nature. It is not known however, if these stem cells are responsible for the aging mammary gland phenotype and the increased risk of cancer seen in aging mammals. Our preliminary studies showed that rapamycin could be utilized as a MaSC inhibitor and clinical trials are currently under way investigating the role of rapamycin in inhibiting MaSC function and abrogating biomarkers associated with invasive BC progression. Mammalian target of rapamycin (mTOR) is a protein kinase that regulates growth, proliferation, and survival in cells and is often upregulated in cancer. Rapamycin is an extremely selective inhibitor of mTORC1 function and its downstream signaling. In this study, aged mice fed ad lib with microencapsulated rapamycin showed decreased mTOR activity in the mammary ducts as shown by immunohistochemistry in aged mice. Treated mouse breast tissue also displayed a decreased population of Lin- CD24low CD49fhi myoepithelial/basal cells along with decreased tertiary branching in the ductal morphology, effectively reversing the aged mammary gland phenotypes. MaSC inhibition by rapamycin was also shown using sphere formation efficiency (SFE) assays after sorting the luminal (Lin- CD24hi CD49flow) and basal (Lin- CD24low CD49fhi) epithelial cells using Florescence Activated Cells Sorting (FACS) in a free suspension culture. Together, these findings show a possible use in regulating MaSCs by rapamycin and its potential in preventing age-related diseases such as breast cancer. Citation Format: Larry E. Broome, Hakim Bouamar, James F. Nelson, Lu-Zhe Sun. Inhibition of mTOR signaling by rapamycin abrogates mammary stem/progenitor cell activity in aged mice [abstract]. In: Proceedings of the 2020 San Antonio Breast Cancer Virtual Symposium; 2020 Dec 8-11; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2021;81(4 Suppl):Abstract nr PS16-18.
IL-8 and VEGF levels in the bronchoalveolar lavage (BAL) of rabbits submitted to pleurodesis with talc of differente size particles
Authors: Viviane R. Figueiredo, Francisco S. Vargas, Milena Marques Pagliarelli Acencio, Evaldo Marchi, Lisete Ribeiro Teixeira, Eduardo H. Genofre, Gabriela G. Carnevale, Leila Antonangelo
Journal: European Respiratory Journal (2006)
Screening of Potential Biomarkers for Gastric Cancer with Diagnostic Value Using Label-Free Global Proteome Analysis
Authors: Yongxi Song, Jun Wang, Jingxu Sun, Xiaowan Chen, Jinxin Shi, Zhonghua Wu, Dehao Yu, Fei Zhang, Zhenning Wang
Journal: Genomics Proteomics & Bioinformatics (2020)

Abstract Gastric cancer (GC) is known as a top malignant type of tumors worldwide. Despite the recent decrease in mortality rates, the prognosis remains poor. Therefore, it is necessary to find novel biomarkers with early diagnostic value for GC. In this study, we present a large-scale proteomic analysis of 30 GC tissues and 30 matched healthy tissues using label-free global proteome profiling. Our results identified 537 differentially expressed proteins, including 280 upregulated and 257 downregulated proteins. The ingenuity pathway analysis (IPA) results indicated that the sirtuin signaling pathway was the most activated pathway in GC tissues whereas oxidative phosphorylation was the most inhibited. Moreover, the most activated molecular function was cellular movement, including tissue invasion by tumor cell lines. Based on IPA results, 15 hub proteins were screened. Using the receiver operating characteristic curve, most of hub proteins showed a high diagnostic power in distinguishing between tumors and healthy controls. A four-protein (ATP5B-ATP5O-NDUFB4-NDUFB8) diagnostic signature was built using a random forest model. The area under the curve (AUC) values of this model were 0.996 and 0.886 for the training and testing sets, respectively, suggesting that the four-protein signature has a high diagnostic power. This signature was further tested with independent datasets using plasma enzyme-linked immune sorbent assays, resulting in an AUC value of 0.778 for distinguishing GC tissues from healthy controls, and using immunohistochemical tissue microarray analysis, resulting in an AUC value of 0.805. In conclusion, this study identifies potential biomarkers and improves our understanding of the pathogenesis, providing novel therapeutic targets for GC.
Addressing COVID-19 Health Disparities &amp; Latinidad
Authors: Nicole Martinez-Martin
Journal: The American Journal of Bioethics (2021)

"Addressing COVID-19 Health Disparities & Latinidad." The American Journal of Bioethics, 21(3), pp. 98–99This article refers to:Structural Racism in the COVID-19 Pandemic: Moving ForwardThis article is referred to by:An Open Dialogue on Health Disparities and Structural Racism: Response to Open Peer Commentaries
Abstract PS8-18: Describing the cancer spectrum in families with CHEK2 pathogenic and likely pathogenic variants by mutation type
Authors: Julia G Moroney, Michele S Basiliere
Journal: Cancer Research (2021)

Abstract Background: Deleterious CHEK2 variants have well-defined risks for breast and colorectal cancers. Some studies have also suggested association with a variety of other cancers, including leukemia, kidney, prostate, thyroid and gastric cancers. However, most CHEK2 studies are based on European founder mutations, and there is a lack of data on non-founder mutations. Here, we describe the cancer family histories of patients with both founder and non-founder CHEK2 mutations. Methods: This is a retrospective review of patients who underwent germline testing of 31 cancer risk genes. All pathogenic (P) and likely pathogenic (LP) variants in CHEK2 were selected from our database and categorized as founder or non-founder mutations. Personal and family histories of cancer reported by the ordering provider were recorded for each case. Cancer rates were calculated as the number of patients with a personal and/or family history of each cancer divided by the total number of patients. Ethnicities in our CHEK2+ cohort and our overall database were calculated as a percentage. Results: A total of 132 patients were found to have P/LP variants in CHEK2. This CHEK2+ cohort was largely Caucasian (79.5%), despite our overall database being ethnically diverse (56% Caucasian). Nineteen different mutations were identified, 75% of which were founder and 25% were non-founder mutations. Personal histories of cancer were identified in 7% of patients. Twenty-eight different cancers were reported in patients’ personal/family histories. The rates of select cancers in the total cohort, founder mutation group and non-founder mutation group are reported in Table 1. Discussion: These findings support previous reports that prostate, gastric and kidney cancers may be part of the CHEK2 cancer spectrum, which has typically only included breast and colorectal cancer. We also identify ovarian and pancreatic cancer as potential CHEK2-associated cancers. Cancer rates are similar between CHEK2 patients with founder and non-founder mutations. Differences in cancer rates were observed between these two groups, but this cohort was too small to determine significance. Additional studies are needed to understand the overlap of cancer risk with non-founder mutations and those well-described for founder mutations. Table 1: Select cancer rates by CHEK2 mutation typeBreast FemaleOvarianProstateColorectalPancreaticUterineGastricKidneyAll80.3%39.4%25%23.5%13.6%8.3%8.3%6.1%Founder81.8%40.4%30.3%23.2%18.2%9.1%9.1%8.1%Non-founder75.8%36.3%9.1%24.2%0%6%6%0% Citation Format: Julia G Moroney, Michele S Basiliere. Describing the cancer spectrum in families with CHEK2 pathogenic and likely pathogenic variants by mutation type [abstract]. In: Proceedings of the 2020 San Antonio Breast Cancer Virtual Symposium; 2020 Dec 8-11; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2021;81(4 Suppl):Abstract nr PS8-18.
Abstract 14727: The Effect of Exenatide Once-Weekly on Carotid Atherosclerosis and Endothelial Function in Persons With Type 2 Diabetes: An 18-Month Randomized Placebo-Controlled Study
Authors: Juraj Koska, Raymond Migrino, Keith C Chan, Kelly Cooper-Cox, Peter D Reaven
Journal: Circulation (2019)

Introduction: Identifying diabetes medications that reduce cardiovascular risk in type 2 diabetes (T2D) is of great importance. GLP-1 receptor agonists (GLP-1RA) lower glucose and improve multiple ...
Systematic evaluation of nine monogenic autoinflammatory diseases reveals common and disease-specific correlations with allergy-associated features
Authors: Daniella Muallem Schwartz, Moses M Kitakule, Brian LP Dizon, Cristhian Gutierrez-Huerta, Sarah A Blackstone, Aarohan M Burma, Aran Son, Natalie Deuitch, Sofia Rosenzweig, Hirsh Komarow, Deborah L Stone, Anne Jones, Michele Nehrebecky, Patrycja Hoffmann, Tina Romeo, Adriana Almeida de Jesus, Sara Alehashemi, Megha Garg, Sofia Torreggiani, Gina A Montealegre Sanchez, Katelin Honer, Gema Souto Adeva, Karyl S Barron, Ivona Aksentijevich, Amanda K Ombrello, Raphaela Goldbach-Mansky, Daniel L Kastner, Joshua D Milner, Pamela Frischmeyer-Guerrerio
Journal: Annals of the Rheumatic Diseases (2021)

Background Monogenic autoinflammatory diseases (AID) are caused by mutations in innate immune genes. The effects of these mutations on allergic inflammation are unknown. Objectives We investigated allergic, immunological and clinical phenotypes in FMF (familial Mediterranean fever), CAPS (cryopyrin-associated periodic syndrome), TRAPS (tumour necrosis factor receptor-associated periodic syndrome), HIDS (hyper-IgD syndrome), PAPA (pyogenic arthritis, pyoderma gangrenosum and acne), DADA2 (deficiency of adenosine deaminase 2), HA20 (haploinsufficiency of A20), CANDLE (chronic atypical neutrophilic dermatosis, lipodystrophy, elevated temperature) and SAVI (STING-associated vasculopathy of infancy). Methods In this cross-sectional study, clinical data were assessed in 425 patients with AID using questionnaires and chart reviews. Comparator data were obtained from public databases. Peripheral blood mononuclear cells obtained from 55 patients were stimulated and CD4 + cytokine production assessed. Results Clinical laboratory features of Type 2 immunity were elevated in CAPS but reduced in most AID, particularly DADA2. Physician-diagnosed allergic diseases were prevalent in multiple AID, including CAPS and DADA2. T helper 2 (Th2) cells were expanded in CAPS, TRAPS and HIDS; Th9 cells were expanded in HA20. Conclusions CAPS is characterised by an enhanced Type 2 signature, whereas FMF and CANDLE are associated with reduced Type 2 responses. DADA2 is associated with reduced Type 2 responses but a high rate of physician-diagnosed allergy. Therefore, NLRP3-driven autoinflammation may promote Type 2 immunity, whereas AID like DADA2 may manifest clinical phenotypes that masquerade as allergic disorders. Further investigations are needed to determine the contribution of autoinflammation to allergic clinical and immunological phenotypes, to improve the treatment of patients with AID.
I Went to the Creek
Authors: Abby Manzella
Journal: Annals of Internal Medicine (2021)

Ad LibitumFebruary 2021I Went to the CreekAbby Manzella, PhDAbby Manzella, PhDColumbia, Missouri (A.M.)Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/M19-3537 Audio Reading - “I Went to the Creek” Audio. Michael A. LaCombe, MD, Annals Associate Editor, reads “I Went to the Creek” by Abby Manzella, PhD Your browser does not support the audio element. Audio player progress bar Step backward in current audio track Play current audio trackPause current audio track Step forward in current audio track Mute current audio trackUnmute current audio track 00:00/ SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail I went to the creek.Past the sycamore strippedwhite by winter windNot yet returned to life.Water gurgling under concrete slabsTelephone poles and stone-cemented beachlitter the floodplain covered in mudfrom even worse days.Not quite nature in its purestBut the closestI could reach.Still sickThe sun aboveThe crow's pronouncementsIt was enough. Author, Article, and Disclosure InformationAffiliations: Columbia, Missouri (A.M.) PreviousarticleNextarticle Advertisement Audio Reading - “I Went to the Creek” Audio. Michael A. LaCombe, MD, Annals Associate Editor, reads “I Went to the Creek” by Abby Manzella, PhD Your browser does not support the audio element. Audio player progress bar Step backward in current audio track Play current audio trackPause current audio track Step forward in current audio track Mute current audio trackUnmute current audio track 00:00/ FiguresReferencesRelatedDetails Metrics February 2021Volume 174, Issue 2Page: 269 ePublished: 16 February 2021 Issue Published: February 2021 Copyright & PermissionsCopyright © 2021 by American College of Physicians. All Rights Reserved.PDF downloadLoading ...