tbuckley/cabot-search huggingface dataset:
Clinical characteristics of patients with alpha-galactosidase A gene variants in a German multicentre cohort of early undifferentiated arthritis
Authors: Stefan Vordenbäumen, Ralph Brinks, Jutta G Richter, Katinka Albrecht, Matthias Schneider
Journal: Annals of the Rheumatic Diseases (2019)

Fabry disease (FD) is a rare lysosomal storage disorder caused by mutations of the alpha-galactosidase A gene ( GLA ) which causes premature morbidity due to organ dysfunction following deposition of globotriaosylceramide (Gb3).1 Presenting symptoms include musculoskeletal pain such as acroparesthesias2 which often result in rheumatological consultations.3 Concerns have been raised that patients with FD are often falsely attributed with classical rheumatological diagnoses, precluding early effective treatment.3

We therefore performed GLA sequencing (Centogene, Rostock, Germany) in a multicentre national cohort of 798 patients with early undifferentiated arthritis (500 female, mean follow-up 19.5±7.4 months) (Course And Prognosis of Early Arthritis study, CAPEA,4 ethics approval 3368). Patients aged above 18 years with clinical arthritis for ≤26 weeks in ≥2 joints, or 1 joint with morning stiffness >30 min were eligible for inclusion.

As detailed …
Iliotibial band syndrome
Authors: James Pegrum, Alex Self, Nick Hall
Journal: BMJ (2019)

### What you need to know A 25 year old woman has recently started training for her first marathon. When she increased her typical running distance from 10 to 18 km she started getting lateral knee pain and tightness. It occurs at the same distance each time she runs, and is worse when she runs downhill. Iliotibial band (ITB) syndrome (ITBS) affects 7-14% of runners,12 although it is associated with a variety of activities including cycling, field sports, hockey, rowing, swimming, hiking, and basketball.1 The pain or tightness typically affects the lateral knee but can radiate along the length of the ITB, presenting with hip or thigh pain (fig 1). ITBS is usually caused by biomechanical abnormalities, often combined with overtraining, although it can develop with quite modest levels of exercise. This article outlines how to diagnose ITBS in someone presenting with lateral knee pain, and offers a practical guide to initial management in primary care. Fig 1 Iliotibial band syndrome Understanding the location and pattern of the pain and biomechanics is important to evaluate and treat the condition. The assessment and differential diagnosis is summarised in the table . View this table: Common causes of lateral knee pain ### History
Improving Outcomes for Patients with High-Risk Myeloma Via Prospective Trial Evidence: The Myeloma UK Nine Optimum Trial
Authors: Amy L Sherborne, Vallari Shah, Sidra Ellis, Farzana Begum, Jack Kendall, David C Johnson, Roger G Owen, Mark T Drayson, Louise Flanagan, Debbie Sherratt, Walter M Gregory, Graham Jackson, Guy Pratt, Gordon Cook, Samantha Hinsley, Sarah Brown, Matthew W Jenner, Martin F Kaiser
Journal: Blood (2017)
The Uncertain Effect of Financial Incentives to Improve Health Behaviors
Authors: Harsha Thirumurthy, David A. Asch, Kevin G. Volpp
Journal: JAMA (2019)

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 O.39: The Incidence Of Abnormal Electroencephalographic Findings And Mild Encephalitis/encephalopathy With A Reversible Splenial Lesion In Kawasaki Disease
Authors: Naomi Nakagawa, Masahiro Kamada, Yukiko Ishiguchi, Yuji Moritoh, Kengo Okamoto
Journal: Circulation (2015)

Background: Central nervous system inflammation sometimes occurs in Kawasaki disease (KD). In 2012, we reported the first case of KD complicated with mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) in a 14-year-old. Since then, similar cases have been reported. We studied the incidence of KD complicated with encephalitis/encephalopathy and MERS. Methods: We selected 36 patients (22 boys and 14 girls; age: range, 5-80 months; mean, 22 months) from 42 patients who had undergone electroencephalography (EEG) before intravenous immunoglobulin (IVIG) therapy between May 2013 and August 2014. Patients with and without abnormal EEG findings were assigned to groups A and B, respectively. Age; sex; time of diagnosis; neurological symptoms; N-terminal pro-brain natriuretic peptide, serum procalcitonin, serum sodium, serum albumin, and C-reactive protein (CRP) levels; liver disorder, coronary artery lesion, and IVIG therapy response were examined. Results: Group A comprised 6 patients (17%); and group B, 30 patients (83%). Consciousness disturbance was noted in 5 of 6 patients with abnormal EEG findings, without sequelae. Patients in group A were significantly older (56.5±16.8 vs 25.0±19.9 months ) and had higher CRP levels than those in group B (12.3±5.62 vs 6.56±3.47 mg/dL ). No other parameters showed significant differences. Magnetic resonance imaging revealed edema in 2 of 5 patients and MERS in the remaining patient in group A. Pleocytosis was noted in 1 of 4 patients in group A. Cytokine Il-6 and INF-γ levels were very high in the patient with MERS. Conclusion: EEG findings indicating central nerve disorders were noted in 17% patients, a lower incidence than that reported by Mitudome et al . We performed EEG early before IVIG therapy; thus, central nerve symptoms encountered may have occurred in the early stages of the disorders. MERS was noted in 1 of 6 patients with abnormal EEG findings, or 2 of 9 patients if past cases with neurological symptoms were included, suggesting that central nerve complications occur in a certain group of KD patients.
Probiotics to prevent<i>Staphylococcus aureus</i>disease?
Authors: Pipat Piewngam, Michael Otto
Journal: Gut Microbes (2019)

There are a plethora of probiotic formulae that supposedly benefit human health on the market. However, the scientific underpinnings of the claimed benefits have remained poorly established. Scientific evidence is now increasingly being provided that explains those benefits, for example, by immune-stimulatory effects or inter-bacterial competition between beneficial and pathogenic bacteria. In our recent study (Piewngam et al. Nature 2018), we show that Bacillus colonization of the human intestine is negatively correlated with that of the human pathogen, Staphylococcus aureus. This type of colonization resistance is achieved by secretion of a class of lipopeptides by Bacillus species that inhibits S. aureus quorum-sensing signaling, which we found is crucial for S. aureus intestinal colonization. Here, we discuss what these findings imply for the general role of S. aureus intestinal colonization, the role of quorum-sensing in that process, and potential alternative ways to control S. aureus infection.
Fully closed-loop insulin delivery improves glucose control of inpatients with type 2 diabetes receiving hemodialysis
Authors: Lia Bally, Philipp Gubler, Hood Thabit, Sara Hartnell, Yue Ruan, Malgorzata E. Wilinska, Mark L. Evans, Mariam Semmo, Bruno Vogt, Anthony P. Coll, Christoph Stettler, Roman Hovorka
Journal: Kidney International (2019)

Inpatient diabetes management of those on hemodialysis poses a major challenge. In a post hoc analysis of a randomized controlled clinical trial, we compared the efficacy of fully automated closed-loop insulin delivery vs. usual care in patients undergoing hemodialysis while in hospital. Compared to control patients receiving conventional subcutaneous insulin therapy, those patients receiving closed-loop insulin delivery significantly increased the proportion of time when a continuous glucose monitor was in the target range of 5.6-10.0 mmol/l by 37.6 percent without increasing the risk of hypoglycemia. Thus, closed-loop insulin delivery offers a novel way to achieve effective and safe glucose control in this vulnerable patient population.
Unpredictable homeodynamic and ambient constraints on irrational decision making of aneural and neural foragers
Authors: Kevin B. Clark
Journal: Behavioral and Brain Sciences (2019)

Abstract Foraging for nutritional sustenance represents common significant learned/heritable survival strategies evolved for phylum-diverse cellular life on Earth. Unicellular aneural to multicellular neural foragers display conserved rational or irrational decision making depending on outcome predictions for noise-susceptible real/illusory homeodynamic and ambient dietary cues. Such context-dependent heuristic-guided foraging enables optimal, suboptimal, or fallacious decisions that drive organismal adaptation, health, longevity, and life history.
Abstract P5-09-09: CHEK2: the third susceptibility BReast CAncer (BC) gene?
Authors: VL Gomes, P Machado, S Fragoso, S Santos, I Coelho, J Parreira, P Rodrigues, F Rodrigues, A Clara, S Bento, A Luís, A Opinião, F Vaz
Journal: Cancer Research (2019)

Abstract INTRODUTION: Considered a medium penetrance gene, CHEK2 codes for a kinase that is a key component of the DNA damage-signaling pathway. CHEK2 pathogenic variants were previously associated with breast and colorectal families and also with Li-Fraumeni phenotypes. Next generation sequencing (NGS) allowed for systematic inclusion of CHEK2 into gene panels. In here, we characterize the growing subgroup of CHECK2 BC families identified through our multidisciplinary program. METHODS: Identification and review of CHEK2 families identified between 01/2000-06/2018 (until 2014 only the c.1100delC was tested (MLPA, MRC Holland); since 2014 NGS methods used were either,Trusight Cancer sequencing panel (Illumina, San Diego, CA, USA) or BRCA MASTR Dx (Multiplicom, Niel, Belgium). Carriers were included in a prospective follow up program. RESULTS: 3646 index pts consented on gene testing. Most hereditary families (HF) were BRCA1/2 (374) (92%) but among non-BRCA HF bigger subgroups were 16 CHEK2, 10 Tp53 and 5 PALB2 HF. All CHEK2 index pts were diagnosed with only 3 different pathogenic variants: c.1100delC (9) c.319+2T&amp;gt;A (6) and c.593-1G&amp;gt;T (1 case of the only male BC pt in all CHEK2 pedigrees). Index pts: mostly (93,8%) to females, with a mean age at first cancer diagnosis of 39 years (yrs) (30-52), 62,5% between 30-39yrs. With the exception of a Non Hodgking's Lymphoma index case, all index pts had BC(93,8%), 68,8% of which were ductal carcinomas and 12,5% of intraductal, all strongly positive for the estrogen receptor. With a mean follow up of 8,26yrs (3-15), secondary cancer cases occurred in 37,5% of index pts (mostly, 12,5%, BC at a mean of 53yrs (41-59). Family phenotypes: data form 98 relatives (53,5% females) revealed diagnoses of BC (31,6%), prostate (8,1%), colorectal (7,1%) cancers. Only 22,2% of family cancers were diagnosed before 50yrs. VUS: Among several complex variants of unknown significance, c.1036C&amp;gt;T;p.Arg346Cys co-segregates in a predominantly male family with 3 prostate, 1 male and 1 female BC. DISCUSSION AND CONCLUSIONS: In the Portuguese population, emerging recurrent pathogenic variants in the CHEK2 gene, make it the most important non-BRCA BC gene so far. Carriers are included in prospective follow up but non-CHEK2 relatives are a challenge to genetic testing, as well as pedigree review, that questions its classification as a medium penetrance gene (or suggest the role of modifier factors). Citation Format: Gomes VL, Machado P, Fragoso S, Santos S, Coelho I, Parreira J, Rodrigues P, Rodrigues F, Clara A, Bento S, Luís A, Opinião A, Vaz F. CHEK2: the third susceptibility BReast CAncer (BC) gene? [abstract]. In: Proceedings of the 2018 San Antonio Breast Cancer Symposium; 2018 Dec 4-8; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2019;79(4 Suppl):Abstract nr P5-09-09.
CGE19-064: Patient Access to Comprehensive Genomic Profiling for Hematologic Malignancies: Analysis of the Payer Coverage Landscape and Results of Testing in 3,600 Patients
Authors: Kristi Maxwell, Eric A. Severson, Meagan Montesion, Ingrid Marino, Rachel Anhorn, Bethany Sawchyn
Journal: Journal of the National Comprehensive Cancer Network (2019)

Comprehensive genomic profiling (CGP) for patients with advanced solid tumors is on the trajectory of becoming standard of care through incorporation into clinical practice, professional society guidelines, availability of an FDA-approved assay, and a national coverage determination from Medicare. For hematologic malignancies, the clinical utility of CGP can be diagnostic, prognostic, or predictive depending on the type of malignancy. Molecular testing has been standard of care for many years for hematologic malignancies, and payer coverage of the CGP approach must now be considered to keep pace with advances in the field of hematology-oncology. Based on American Medical Association CPT coding definitions, molecular testing for hematologic malignancies is categorized as testing for individual genes and gene panels of 5–50 genes or &gt;50 genes. Our review of payer coverage policies from the Policy Reporter database in October 2018 demonstrated that payer coverage for &gt;50 genes in hematologic malignancies is limited. As an example of coverage limitations, a recently updated Medicare Local Coverage Determination limits coverage to 50 genes or less. Coverage decisions such as these are being made during a time of increasing demand for an expanded approach. Data from the Foundation Medicine, Inc. database shows that as of April 2018, over 3,600 patients with AML, MDS, and MPN have undergone clinical testing with FoundationOne Heme, a CGP assay for hematologic malignancies. In an analysis of over 1,300 AML cases tested with FoundationOne Heme, 62% had an alteration that is included in the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines), and 91% had a clinically relevant alteration identified that could inform diagnosis, prognosis, or treatment selection. In an analysis of over 1,300 MDS cases tested, 70% had at least one clinically relevant alteration identified. In an analysis of over 200 MPN cases tested, 48% were triple negative for CALR, JAK2, and MPL, and of those triple negative cases, 55% had another clinically relevant alteration. These data demonstrate that FoundationOne Heme is a clinically important assay for patients with hematologic malignancies including AML, MDS, and MPN, and stakeholders within the system must now come together to further refine the clinical utility, improve payer coverage, and ensure patient access to this impactful testing as the field advances.
Case 9-2019: A 62-Year-Old Man with Atrial Fibrillation, Depression, and Worsening Anxiety
Authors: Justin A. Chen, Leon M. Ptaszek, Christopher M. Celano, Scott R. Beach
Journal: New England Journal of Medicine (2019)

A 62-year-old man with a history of major depressive disorder and generalized anxiety disorder was evaluated in the psychiatry clinic because of increased anxiousness, with the feeling of a racing heart, difficulty breathing, and excessive worry. A diagnostic test was performed.
Development and validation of a semi-automated surveillance system—lowering the fruit for non-ventilator-associated hospital-acquired pneumonia (nvHAP) prevention
Authors: A. Wolfensberger, W. Jakob, M. Faes Hesse, S.P. Kuster, A.H. Meier, P.W. Schreiber, L. Clack, H. Sax
Journal: Clinical Microbiology and Infection (2019)
Interactive roles of chromatin regulation and circadian clock function in plants
Authors: Z. Jeffrey Chen, Paloma Mas
Journal: Genome biology (2019)

Circadian rhythms in transcription ultimately result in oscillations of key biological processes. Understanding how transcriptional rhythms are generated in plants provides an opportunity for fine-tuning growth, development, and responses to the environment. Here, we present a succinct description of the plant circadian clock, briefly reviewing a number of recent studies but mostly emphasizing the components and mechanisms connecting chromatin remodeling with transcriptional regulation by the clock. The possibility that intergenomic interactions govern hybrid vigor through epigenetic changes at clock loci and the function of epialleles controlling clock output traits during crop domestication are also discussed.
HSR19-106: Association Between Pathological Complete Responses and Long-Term Survival Outcomes Among Triple-Negative Breast Cancer Patients Receiving Neoadjuvant Chemotherapy
Authors: Cynthia Z. Qi, Min Huang, Amin Haiderali, Jipan Xie, Zheng-Yi Zhou, Eric Q. Wu, Peter Fasching
Journal: Journal of the National Comprehensive Cancer Network (2019)

Objective: Pathological complete response (pCR) has been a commonly used endpoint in neoadjuvant trials for breast cancer (BC). A pooled analysis of 12 neoadjuvant BC trials by Cortazar et al (2014) reported a positive association between pCR and long-term survival outcomes among patients with general BC and certain subtypes including triple negative BC (TNBC). To update and extend the evidence to assess the association of pCR and survival outcomes in TNBC, this study reviewed and summarized cohort studies and recent clinical trials in the literature. Methods: English publications reporting association between pCR and survival outcomes among TNBC patients receiving neoadjuvant chemotherapy were searched in MEDLINE, EMBASE, Cochrane CENTRAL, and Northern Light Sciences Conference Abstracts. Full-text publications from all years and conference abstracts since year 2016 were identified. Relevant clinical trials, real-world evidence (RWE) studies, and meta-analyses were included for review and extraction. Results: Of total 1,880 publications retrieved, 35 reported association between pCR and survival outcomes for neoadjuvant TNBC (9 clinical trials, 21 RWE studies, and 5 pooled/meta-analyses). The sample size of TNBC patients varied between 25 and 1,645. Different pCR definitions were used across studies, of which absence of tumor in the breast and axillary nodes was most common (N=29). The prognostic impact of pCR was evaluated for multiple survival outcomes: overall survival (OS; N=19), disease-free survival (DFS; N=14), relapse-free survival (RFS; N=7), event-free survival (N=5), distant DFS (N = 4), and local RFS (N=2). Kaplan-Meier analysis was used to assess the association between pCR and these outcomes in 31 studies. Clear separation of survival curves in favor of pCR was observed in all the studies. Log-rank tests were conducted in 18 studies, and statistically significant association was reported in majority of them, except for 1 RWE study with small sample size (N=35) and 1 pooled analysis with a different pCR definition (absence of tumor in the breast) than most of the others. Cox proportional hazards model was used in 17 studies, wherein hazard ratios of survival outcomes comparing pCR vs non-pCR ranged from 0.08 to 0.53. Conclusions: Despite divergent study designs and pCR definitions, evidence from both clinical and real-world settings consistently suggest that pCR is a strong predictor of OS and other survival outcomes among TNBC patients.
Abstract ES9-3: Triple negative breast cancer: Current and future directions in metastatic patients
Authors: J Chang
Journal: Cancer Research (2019)

Abstract Chemotherapy is the primary established systemic treatment for patients with triple-negative breast cancer (TNBC) with both early and metastatic disease. The poor prognosis of patients with TNBC have fostered a major effort to discover actionable molecular targets and other approaches to treat these patients. Massively parallel sequencing and other 'omics' technologies have revealed an unexpected level of heterogeneity of TNBCs and have led to the identification of potentially actionable molecular features in some TNBCs, such as germline BRCA1/2 mutations or 'BRCAness', as well as a subgroup with a high degree of tumor-infiltrating lymphocytes that also correlates with a lower risk of disease relapse and a higher likelihood of benefit from chemotherapy. Proof-of-principle studies with immune-checkpoint inhibitors in advanced-stage TNBC have yielded promising results, indicating the potential benefit of immunotherapy for patients with TNBC. Additional data from trials with antibody drug conjugates have yielded promising results. We discuss the most relevant molecular findings in TNBC from the past decade and the most promising therapeutic opportunities. Citation Format: Chang J. Triple negative breast cancer: Current and future directions in metastatic patients [abstract]. In: Proceedings of the 2018 San Antonio Breast Cancer Symposium; 2018 Dec 4-8; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2019;79(4 Suppl):Abstract nr ES9-3.
Atezolizumab plus bevacizumab and chemotherapy in non-small-cell lung cancer (IMpower150): key subgroup analyses of patients with EGFR mutations or baseline liver metastases in a randomised, open-label phase 3 trial
Authors: Martin Reck, Tony S K Mok, Makoto Nishio, Robert M Jotte, Federico Cappuzzo, Francisco Orlandi, Daniil Stroyakovskiy, Naoyuki Nogami, Delvys Rodríguez-Abreu, Denis Moro-Sibilot, Christian A Thomas, Fabrice Barlesi, Gene Finley, Anthony Lee, Shelley Coleman, Yu Deng, Marcin Kowanetz, Geetha Shankar, Wei Lin, Mark A Socinski, Martin Reck, Tony SK Mok, Makoto Nishio, Robert M Jotte, Federico Cappuzzo, Francisco Orlandi, Daniil Stroyakovskiy, Naoyuki Nogami, Delvys Rodríguez-Abreu, Denis Moro-Sibilot, Christian A Thomas, Fabrice Barlesi, Gene Finley, Anthony Lee, Shelley Coleman, Yu Deng, Marcin Kowanetz, Geetha Shankar, Wei Lin, Mark A Socinski
Journal: The Lancet Respiratory Medicine (2019)
Alterations in Skin Microbiomes of Patients With Cirrhosis
Authors: Jasmohan S. Bajaj, Andrew Fagan, Masoumeh Sikaroodi, Genta Kakiyama, Hajme Takei, Yordanos Degefu, William M. Pandak, Phillip B. Hylemon, Michael Fuchs, Binu John, Douglas M. Heuman, Edith Gavis, Hiroshi Nittono, Rohan Patil, Patrick M. Gillevet
Journal: Clinical Gastroenterology and Hepatology (2019)
Correction to: Bictegravir/Emtricitabine/Tenofovir Alafenamide: A Review in HIV-1 Infection
Authors: Emma D. Deeks
Journal: Drugs (2019)

The article Bictegravir/Emtricitabine/Tenofovir Alafenamide: A Review in HIV-1 Infection, written by Emma D. Deeks, was originally published Online First without open access. After publication in volume 78, issue 17, pages 1817-1828 Gilead Sciences requested that the article be Open Choice to make the article an open access publication. Post-publication open access was funded by Gilead Sciences. The article is forthwith distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License ( http://creativecommons.org/licenses/by-nc/4.0/ ), which permits any noncommercial use, duplication, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license and indicate if changes were made.