tbuckley/cabot-search huggingface dataset:
Arsenic Exposure from Drinking Water and Urinary Metabolomics: Associations and Long-Term Reproducibility in Bangladesh Adults
Authors: Fen Wu, Liang Chi, Hongyu Ru, Faruque Parvez, Vesna Slavkovich, Mahbub Eunus, Alauddin Ahmed, Tariqul Islam, Muhammad Rakibuz-Zaman, Rabiul Hasan, Golam Sarwar, Joseph H. Graziano, Habibul Ahsan, Kun Lu, Yu Chen
Journal: Environmental Health Perspectives (2018)

Background: Chronic exposure to inorganic arsenic from drinking water has been associated with a host of cancer and noncancer diseases. The application of metabolomics in epidemiologic studies may allow researchers to identify biomarkers associated with arsenic exposure and its health effects. Objective: Our goal was to evaluate the long-term reproducibility of urinary metabolites and associations between reproducible metabolites and arsenic exposure. Methods: We studied samples and data from 112 nonsmoking participants (58 men and 54 women) who were free of any major chronic diseases and who were enrolled in the Health Effects of Arsenic Longitudinal Study (HEALS), a large prospective cohort study in Bangladesh. Using a global gas chromatography–mass spectrometry platform, we measured metabolites in their urine samples, which were collected at baseline and again 2 y apart, and estimated intraclass correlation coefficients (ICCs). Linear regression was used to assess the association between arsenic exposure at baseline and metabolite levels in baseline urine samples. Results: We identified 2,519 molecular features that were present in all 224 urine samples from the 112 participants, of which 301 had an ICC of ≥0.60. Of the 301 molecular features, water arsenic was significantly related to 31 molecular features and urinary arsenic was significantly related to 74 molecular features after adjusting for multiple comparisons. Six metabolites with a confirmed identity were identified from the 82 molecular features that were significantly associated with either water arsenic or urinary arsenic after adjustment for multiple comparisons. Conclusions: Our study identified urinary metabolites with long-term reproducibility that were associated with arsenic exposure. The data established the feasibility of using metabolomics in future larger studies. https://doi.org/10.1289/EHP1992
Successful treatment of chemotherapy-induced peripheral neuropathy (CIPN) with spinal cord stimulation (SCS): case reports
Authors: Phillip Phan, Ani Khodavirdi
Journal: Cancer Research (2007)

35  The use of neurotoxic chemotherapeutic agents occasionally leads to neuropathic pain in extremities characterized by burning, sharp radiating discomfort. This pain is typically refractory or non-responsive to medical management including opioid use and nerve blocks. The following case reports describe five patients with CIPN whose pain was successfully controlled with the Precision™ SCS system (Advanced Bionics Corporation, Valencia, CA).  Case summaries of patients diagnosed with CIPN pain of lower extremities were developed based on retrospective chart review.  1. A 58-year old female with history of chronic myelogenous leukemia treated with hemoharringtine and alpha interferon presented with burning pain of 8 years duration that radiated from the buttocks into both legs and feet. Medical treatment including opioids, lumbar epidural injections, and nerve blocks were ineffective or not tolerated. Treatment with SCS resulted in an immediate and durable significant decrease in pain (from 8 to 2 on 10-point VAS scale), and allowed discontinuation of most pain medications.  2. A 57-year old female with history of breast cancer treated with trastuzumab, zoledronic acid, and docetaxel presented with bipedal neuropathic pain exacerbated by ambulation. After 2 years of unsuccessful pain management with opioids and adverse reactions to other drugs, significant pain relief (VAS 9 to 2) was achieved with SCS, and drug use was discontinued.  3. In remission from IgA multiple myeloma, a 54-year old male treated with velcade, thalidomide, and dexamethasone presented with bilateral burning foot pain. Opioid use resulted in somnolence and nausea. Six months post SCS, his pain rating and morphine equivalent daily dose (MEDD) decreased from 10 to 2 and 110 to 5, respectively.  4. A 54-year old woman with history of gastric carcinoma treated with cisplatin, taxol, and 5-FU presented with bilateral burning in anterior thigh of 6 years duration. Opioid use caused sedation without pain relief. Following treatment with SCS, VAS decreased from 9 to 2 and MEDD from 145 to 5.  5. A 55-year old male with history of carcinoma of bladder treated with cisplatin, gemcitabine, adriamycin, and ifosfamide presented with sharp stabbing pain in the legs of 3 years duration. Pain therapy included opioids, MEDD of 200, and unsuccessful lumbar sympathetic blocks. After SCS, pain rating changed from VAS 8 to 2 and MEDD dropped to 10.  These cases represent patients who had unsatisfactory outcomes with management of debilitating neuropathic pain and were ‘salvaged’ with SCS. Adverse impact of CIPN on quality of life is significant and is often inadequately addressed with conventional pain management modalities. SCS has demonstrated effectiveness in managing neuropathic pain over a wide range of etiologies and should be considered in management of refractory pain secondary to chemotherapy-induced neuropathy.
Hedgehog Pathway Drives Fusion-Negative Rhabdomyosarcoma Initiated From Non-myogenic Endothelial Progenitors
Authors: Catherine J. Drummond, Jason A. Hanna, Matthew R. Garcia, Daniel J. Devine, Alana J. Heyrana, David Finkelstein, Jerold E. Rehg, Mark E. Hatley
Journal: Cancer Cell (2018)
Assessment of Maintenance Rituximab after First-Line Bendamustine-Rituximab in Patients with Follicular Lymphoma: An Analysis from the BRIGHT Trial
Authors: Brad S Kahl, John M. Burke, Richard van der Jagt, Julie Chang, Peter Wood, Tim Hawkins, David MacDonald, Judith Trotman, David Simpson, Kathryn S. Kolibaba, Samar Issa, Doreen Hallman, Ling Chen, Ian W. Flinn
Journal: Blood (2017)
The international WAO/EAACI guideline for the management of hereditary angioedema—The 2017 revision and update
Authors: M. Maurer, M. Magerl, I. Ansotegui, E. Aygören‐Pürsün, S. Betschel, K. Bork, T. Bowen, H. Balle Boysen, H. Farkas, A. S. Grumach, M. Hide, C. Katelaris, R. Lockey, H. Longhurst, W. R. Lumry, I. Martinez‐Saguer, D. Moldovan, A. Nast, R. Pawankar, P. Potter, M. Riedl, B. Ritchie, L. Rosenwasser, M. Sánchez‐Borges, Y. Zhi, B. Zuraw, T. Craig
Journal: Allergy (2018)

Abstract Hereditary Angioedema ( HAE ) is a rare and disabling disease. Early diagnosis and appropriate therapy are essential. This update and revision of the global guideline for HAE provides up‐to‐date consensus recommendations for the management of HAE . In the development of this update and revision of the guideline, an international expert panel reviewed the existing evidence and developed 20 recommendations that were discussed, finalized and consented during the guideline consensus conference in June 2016 in Vienna. The final version of this update and revision of the guideline incorporates the contributions of a board of expert reviewers and the endorsing societies. The goal of this guideline update and revision is to provide clinicians and their patients with guidance that will assist them in making rational decisions in the management of HAE with deficient C1‐inhibitor (type 1) and HAE with dysfunctional C1‐inhibitor (type 2). The key clinical questions covered by these recommendations are: (1) How should HAE ‐1/2 be defined and classified?, (2) How should HAE ‐1/2 be diagnosed?, (3) Should HAE ‐1/2 patients receive prophylactic and/or on‐demand treatment and what treatment options should be used?, (4) Should HAE ‐1/2 management be different for special HAE ‐1/2 patient groups such as pregnant/lactating women or children?, and (5) Should HAE ‐1/2 management incorporate self‐administration of therapies and patient support measures?
Genetic Ablation of <i>Rbm38</i> Promotes Lymphomagenesis in the Context of Mutant p53 by Downregulating PTEN
Authors: Jin Zhang, Enshun Xu, Cong Ren, Hee Jung Yang, Yanhong Zhang, Wenqiang Sun, Xiangmudong Kong, Weici Zhang, Mingyi Chen, Eric Huang, Xinbin Chen
Journal: Cancer Research (2018)

Abstract Mutant p53 exerts gain-of-function effects that drive metastatic progression and therapeutic resistance, but the basis for these effects remain obscure. The RNA binding protein RBM38 limits translation of mutant p53 and is often altered in tumors harboring it. Here we show how loss of Rbm38 significantly alters cancer susceptibility in mutant p53 knock-in mice by shortening lifespan, altering tumor incidence, and promoting T-cell lymphomagenesis. Loss of Rbm38 enhanced mutant p53 expression and decreased expression of the tumor suppressor Pten, a key regulator of T-cell development. Furthermore, Rbm38 was required for Pten expression via stabilization of Pten mRNA through an AU-rich element in its 3′UTR. Our results suggest that Rbm38 controls T-cell lymphomagenesis by jointly modulating mutant p53 and Pten, with possible therapeutic implications for treating T-cell malignancies. Significance: An RNA-binding protein controls T-cell lymphomagenesis by jointly modulating mutant p53 and PTEN, with possible therapeutic implications for treating T-cell malignancies. Cancer Res; 78(6); 1511–21. ©2018 AACR.
NHLBI Working Group Recommendations to Reduce Lipoprotein(a)-Mediated Risk of Cardiovascular Disease and Aortic Stenosis
Authors: Sotirios Tsimikas, Sergio Fazio, Keith C. Ferdinand, Henry N. Ginsberg, Marlys L. Koschinsky, Santica M. Marcovina, Patrick M. Moriarty, Daniel J. Rader, Alan T. Remaley, Gissette Reyes-Soffer, Raul D. Santos, George Thanassoulis, Joseph L. Witztum, Simhan Danthi, Michelle Olive, Lijuan Liu
Journal: Journal of the American College of Cardiology (2018)
Role of liver transplantation in severe alcoholic hepatitis
Authors: Ravi Daswani, Ashish Kumar, Praveen Sharma, Vikas Singla, Naresh Bansal, Anil Arora
Journal: Clinical and Molecular Hepatology (2018)

Severe alcoholic hepatitis has very high short term mortality and corticosteroids have been the mainstay of treatment for decades. Patients with Lille score >0.45 are considered non-responders to steroids and have poor outcome. Recently Orthotopic Liver Transplantation (OLT) is being increasingly used as rescue treatment for these patients, without waiting for 6 months of abstinence. Liver transplant is the only rescue treatment which can potentially provide long term benefit for patients who are steroid non-responders. However, with scarcity of organs being a concern, all patients of severe alcoholic hepatitis cannot be chosen for transplantation in an arbitrary way. There is a need for development of predictive tools and objective protocols to select patients who can justify the use of precious liver grafts. With a stringent criteria for selection of patients receiving the graft, liver transplantation in severe alcoholic hepatitis can become a viable rescue therapeutic option conferring significant survival advantage of both short- and long-term basis. The optimal criteria for selection will also prevent misuse of the liver donor pool as well as to prevent mortality in salvageable patients. Further research needs to be done to identify subset of patients which are at low risk of recidivism and also cannot be managed with pharmacotherapy alone. We reviewed the current knowledge on role of OLT in patient with acute severe alcoholic hepatitis in the present review. Keywords: Alcoholic hepatitis; Cirrhosis; Liver transplantation; Alcoholic liver disease
Long-Term Improvement of Neurological Signs and Metabolic Dysfunction in a Mouse Model of Krabbe’s Disease after Global Gene Therapy
Authors: Michael S. Marshall, Yazan Issa, Benas Jakubauskas, Monika Stoskute, Vince Elackattu, Jeffrey N. Marshall, Wil Bogue, Duc Nguyen, Zane Hauck, Emily Rue, Subha Karumuthil-Melethil, Violeta Zaric, Maarten Bosland, Richard B. van Breemen, Maria I. Givogri, Steven J. Gray, Stephen J. Crocker, Ernesto R. Bongarzone
Journal: Molecular Therapy (2018)

We report a global adeno-associated virus (AAV)9-based gene therapy protocol to deliver therapeutic galactosylceramidase (GALC), a lysosomal enzyme that is deficient in Krabbe's disease. When globally administered via intrathecal, intracranial, and intravenous injections to newborn mice affected with GALC deficiency (twitcher mice), this approach largely surpassed prior published benchmarks of survival and metabolic correction, showing long-term protection of demyelination, neuroinflammation, and motor function. Bone marrow transplantation, performed in this protocol without immunosuppressive preconditioning, added minimal benefits to the AAV9 gene therapy. Contrasting with other proposed pre-clinical therapies, these results demonstrate that achieving nearly complete correction of GALC's metabolic deficiencies across the entire nervous system via gene therapy can have a significant improvement to behavioral deficits, pathophysiological changes, and survival. These results are an important consideration for determining the safest and most effective manner for adapting gene therapy to treat this leukodystrophy in the clinic.
Charlie Gard and the Limits of the Harm Principle
Authors: Johan Christiaan Bester
Journal: JAMA Pediatrics (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 Pediatrics 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 Pediatrics journal
Neoadjuvant treatment with trastuzumab and pertuzumab plus palbociclib and fulvestrant in HER2-positive, ER-positive breast cancer (NA-PHER2): an exploratory, open-label, phase 2 study
Authors: Luca Gianni, Giancarlo Bisagni, Marco Colleoni, Lucia Del Mastro, Claudio Zamagni, Mauro Mansutti, Milvia Zambetti, Antonio Frassoldati, Raffaella De Fato, Pinuccia Valagussa, Giuseppe Viale
Journal: The Lancet Oncology (2018)
Memory B Cells that Cross-React with Group 1 and Group 2 Influenza A Viruses Are Abundant in Adult Human Repertoires
Authors: Kevin R. McCarthy, Akiko Watanabe, Masayuki Kuraoka, Khoi T. Do, Charles E. McGee, Gregory D. Sempowski, Thomas B. Kepler, Aaron G. Schmidt, Garnett Kelsoe, Stephen C. Harrison
Journal: Immunity (2018)
Feasibility and Safety of Cockroach Nasal Allergen Challenge (NAC) in Cockroach Sensitized Children and Adults with Asthma: A Multi-Site, Open-Label Pilot Study (Inner City Asthma Consortium)
Authors: Amanda K. Rudman Spergel, Michelle L. Sever, Jacqueline Johnson, Michelle A. Gill, Carolyn Kercsmar, Dan A. Searing, Stephanie Lovinsky-Desir, Stephen J. Teach, James E. Gern, William W. Busse, Alkis Togias, Robert A. Wood, Andrew H. Liu
Journal: Journal of Allergy and Clinical Immunology (2018)
"Real World" Data on the Efficacy and Safety of Ixazomib in Combination with Lenalidomide and Dexamethasone in Relapsed/Refractory Multiple Myeloma: A Combined Study from the Greek, Czech and UK Databases
Authors: Evangelos Terpos, Nadjoua Maouche, Jiri Minarik, Eirini Katodritou, Matthew W Jenner, Hana Plonkova, Maria Gavriatopoulou, Grant Vallance, Tomas Pika, Maria Kotsopoulou, Jaimal Kothari, Tomas Jelinek, Eftathios Kastritis, Robin Aitchison, Meletios A. Dimopoulos, Karthik Ramasamy, Roman Hajek
Journal: Blood (2017)
Advancing adherence research in sport injury prevention
Authors: Oluwatoyosi B A Owoeye, Carly D McKay, Evert A L M Verhagen, Carolyn A Emery
Journal: British Journal of Sports Medicine (2018)

Have you ever wondered why some patients do not adhere to drug prescriptions despite warnings regarding the health consequences of non-adherence? The simple reason is that it takes more than just a prescription and education to get patients to take their drugs. A similar scenario has become apparent in the field of sport injury prevention. Over the past two decades, sport injury prevention researchers have developed innovative and proven interventions for injury prevention in athletes. However, most interventions have been developed without the optimal implementation context in mind. Researchers provide evidence of intervention efficacy and as much public advocacy as possible, more like the ’prescribe and educate’ tradition. Unfortunately, the challenge of non-adherence remains palpable.

The WHO defines adherence as ‘the extent to which a person’s behaviour – taking medication, following a diet, and/or executing lifestyle changes – corresponds with agreed recommendations from a healthcare provider’.1 The effectiveness of any treatment or prevention intervention is determined jointly by its efficacy and user adherence to the intervention. While it is common practice for ‘compliance’ and ‘adherence’ to be interchangeably used by researchers, these constructs have different meanings.1 2 Adherence has been identified …
Pan-genome analysis highlights the extent of genomic variation in cultivated and wild rice
Authors: Qiang Zhao, Qi Feng, Hengyun Lu, Yan Li, Ahong Wang, Qilin Tian, Qilin Zhan, Yiqi Lu, Lei Zhang, Tao Huang, Yongchun Wang, Danlin Fan, Yan Zhao, Ziqun Wang, Congcong Zhou, Jiaying Chen, Chuanrang Zhu, Wenjun Li, Qijun Weng, Qun Xu, Zi-Xuan Wang, Xinghua Wei, Bin Han, Xuehui Huang
Journal: Nature Genetics (2018)

The rich genetic diversity in Oryza sativa and Oryza rufipogon serves as the main sources in rice breeding. Large-scale resequencing has been undertaken to discover allelic variants in rice, but much of the information for genetic variation is often lost by direct mapping of short sequence reads onto the O. sativa japonica Nipponbare reference genome. Here we constructed a pan-genome dataset of the O. sativa-O. rufipogon species complex through deep sequencing and de novo assembly of 66 divergent accessions. Intergenomic comparisons identified 23 million sequence variants in the rice genome. This catalog of sequence variations includes many known quantitative trait nucleotides and will be helpful in pinpointing new causal variants that underlie complex traits. In particular, we systemically investigated the whole set of coding genes using this pan-genome data, which revealed extensive presence and absence of variation among rice accessions. This pan-genome resource will further promote evolutionary and functional studies in rice.
Research on climate change, health inequities, and migration in the Caribbean
Authors: Patrick Cloos, Valéry Ridde
Journal: The Lancet Planetary Health (2018)

On Sept 18, 2017, a few days after Hurricane Irma caused extensive damage to the Caribbean, Hurricane Maria—another category five hurricane—badly hit many islands in the region. Among them was Dominica, a small island developing state (SIDS) of the Caribbean community, located in the Windward Islands between Guadeloupe in the north and Martinique in the south. Dominica was devastated after the passage of Hurricane Maria with at least 30 deaths out of a population of 72 000, and 60% of houses were either gone (blown into the sea or totally scattered in pieces across the island) or severely damaged.
Erratum: Corrigendum: High-throughput oncogene mutation profiling in human cancer
Authors: Roman K Thomas, Alissa C Baker, Ralph M DeBiasi, Wendy Winckler, Thomas LaFramboise, William M Lin, Meng Wang, Whei Feng, Thomas Zander, Laura E MacConnaill, Jeffrey C Lee, Rick Nicoletti, Charlie Hatton, Mary Goyette, Luc Girard, Kuntal Majmudar, Liuda Ziaugra, Kwok-Kin Wong, Stacey Gabriel, Rameen Beroukhim, Michael Peyton, Jordi Barretina, Amit Dutt, Caroline Emery, Heidi Greulich, Kinjal Shah, Hidefumi Sasaki, Adi Gazdar, John Minna, Scott A Armstrong, Ingo K Mellinghoff, F Stephen Hodi, Glenn Dranoff, Paul S Mischel, Tim F Cloughesy, Stan F Nelson, Linda M Liau, Kirsten Mertz, Mark A Rubin, Holger Moch, Massimo Loda, William Catalona, Jonathan Fletcher, Sabina Signoretti, Frederic Kaye, Kenneth C Anderson, George D Demetri, Reinhard Dummer, Stephan Wagner, Meenhard Herlyn, William R Sellers, Matthew Meyerson, Levi A Garraway
Journal: Nature Genetics (2007)
A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease
Authors: Florence A Aeschlimann, Ezgi D Batu, Scott W Canna, Ellen Go, Ahmet Gül, Patrycja Hoffmann, Helen L Leavis, Seza Ozen, Daniella M Schwartz, Deborah L Stone, Annet van Royen-Kerkof, Daniel L Kastner, Ivona Aksentijevich, Ronald M Laxer
Journal: Annals of the Rheumatic Diseases (2018)

The association between mutations in TNFAIP3, encoding the NF-kB regulatory protein A20, and a new autoinflammatory disease has recently been recognised. This study aims at describing the clinical phenotypes and disease course of patients with A20 haploinsufficiency (HA20).Data for all cases from the initial publication, and additional cases identified through collaborations since, were collected using standardised data collection forms.A total of 16 patients (13 female) from seven families with a genetic diagnosis of HA20 were included. The disease commonly manifested in early childhood (range: first week of life to 29 years of age). The main clinical symptoms were recurrent oral, genital and/or gastrointestinal ulcers (16/16), musculoskeletal (9/16) and gastrointestinal complaints (9/16), cutaneous lesions (8/16), episodic fever (7/16), and recurrent infections (7/16). Clinical phenotypes varied considerably, even within families. Relapsing-remitting disease course was most common, and one patient died. Laboratory abnormalities included elevated acute-phase reactants and fluctuating presence of various autoantibodies such as antinuclear antibodies (4/10 patients tested) and anti-dsDNA (2/5). Tissue biopsy of different sites revealed non-specific chronic inflammation (6/12 patients tested), findings consistent with class V lupus nephritis in one patient, and pustules and normal results in two patients each. All patients were treated: 4/16 received colchicine and 12/16 various immunosuppressive agents. Cytokine inhibitors effectively suppressed systemic inflammation in 7/9 patients.Early-onset recurrent oral, genital and/or gastrointestinal ulcers are the hallmark feature of HA20. Frequency and intensity of other clinical manifestations varied highly. Treatment regimens should be based on disease severity, and cytokine inhibitors are often required to control relapses.
Abstract 19229: Does Ethnicity Matter? A Comparative Analysis of Social Determinants of Hypertension and Diabetes Among African Americans, African Immigrants and Afro Caribbeans in the 2010-2014 National Health Interview Survey
Authors: Yvonne Y Commodore-Mensah, Jessica S Wells, Nadine Matthie, Sandra B Dunbar, Rasheeta Chandler
Journal: Circulation (2016)

Introduction: Ethnic minorities in the United States are disproportionately affected by hypertension and diabetes. Historically, African Americans (AAs), African immigrants (AIs), and Afro-Caribbea...
Correlation Of B Cell Number With Typhi Vi IgG Antibodies In Primary Immunodeficient Patients
Authors: Antony R. Parker, Suranjith L. Seneviratne, N. Rajiva De Silva, Jeevani Kumarage, Vijitha Senatane, Amitha Fernando, Kirthi Gunasekara, Bandu Gunasena, Nishantha Padmalal Gurugama, Sudath Peiris
Journal: Journal of Allergy and Clinical Immunology (2018)