tbuckley/cabot-search huggingface dataset:
Erratum: Corrigendum: Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice
Authors: Nicolas Wein, Adeline Vulin, Maria S Falzarano, Christina Al-Khalili Szigyarto, Baijayanta Maiti, Andrew Findlay, Kristin N Heller, Mathias Uhlén, Baskar Bakthavachalu, Sonia Messina, Giuseppe Vita, Chiara Passarelli, Francesca Gualandi, Steve D Wilton, Louise R Rodino-Klapac, Lin Yang, Diane M Dunn, Daniel R Schoenberg, Robert B Weiss, Michael T Howard, Alessandra Ferlini, Kevin M Flanigan
Journal: Nature Medicine (2015)
A phase 1/2 study of the oral proteasome inhibitor ixazomib in relapsed or refractory AL amyloidosis
Authors: Vaishali Sanchorawala, Giovanni Palladini, Vishal Kukreti, Jeffrey A. Zonder, Adam D. Cohen, David C. Seldin, Angela Dispenzieri, Arnaud Jaccard, Stefan O. Schönland, Deborah Berg, Huyuan Yang, Neeraj Gupta, Ai-Min Hui, Raymond L. Comenzo, Giampaolo Merlini
Journal: Blood (2017)
Seattle Heart Failure and Proportional Risk Models Predict Benefit From Implantable Cardioverter-Defibrillators
Authors: Kenneth C. Bilchick, Yongfei Wang, Alan Cheng, Jeptha P. Curtis, Kumar Dharmarajan, George J. Stukenborg, Ramin Shadman, Inder Anand, Lars H. Lund, Ulf Dahlström, Ulrik Sartipy, Aldo Maggioni, Karl Swedberg, Chris O’Conner, Wayne C. Levy
Journal: Journal of the American College of Cardiology (2017)
Folic Acid for the Prevention of Neural Tube Defects
Authors: Renata Bortolus, Fabio Parazzini, Antonio Addis
Journal: JAMA Pediatrics (2017)

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
TRAIL mediated gene therapy of neuroblastoma is enhanced by simultaneous inhibition of NF-κB pathway
Authors: Bahri Karacay, Salih Sanlioglu, Thomas S. Griffith, Anthony Sandler, Daniel J. Bonthius
Journal: Cancer Research (2004)

4593   Neuroblastoma is the most common solid extracranial neoplasm in children and is responsible for approximately 15% of all childhood cancer deaths. Despite advances in treatment modalities, prognosis for neuroblastoma remains poor, and the quality of life of the treated patients is reduced drastically, thus necessitating development of new treatment regimes. TNF-related apoptosis inducing-ligand (TRAIL) induces apoptosis in a variety of tumor types, but not in normal tissues. Moreover, animals receiving multiple doses of TRAIL lack observable histological or functional changes, which makes TRAIL a strong candidate as an anti-tumor therapeutic agent. In this study, we demonstrate that introduction of the human TRAIL gene into the human neuroblastoma cell line SKNSH using an adenoviral vector leads to the death of the tumor cells. RT-PCR analysis demonstrated that the apoptotic effect of TRAIL is mediated primarily via the TRAIL R2 receptor and, to a lesser extent, by the TRAIL R1 receptor. SKNSH cells do not express TRAIL R3 or TRAIL R4 receptors. Nuclear factor κB (NF-κB) is a transcription factor that can protect tumor cells by exerting anti-apoptotic effects. Function of the NF-κB pathway depends upon the action of a specific kinase (IKK). TRAIL-mediated cell death was enhanced when neuroblastoma cells were simultaneously infected with a dominant negative mutant of IKK, thus inhibiting activation of the NF-κB pathway and promoting apoptosis. These results suggest that concurrent inhibition of the NF-κB pathway and the induction of TRAIL-mediated apoptosis using a dual vector approach may become useful in the treatment of neuroblastoma.
GENE-02. GERMLINE MUTATIONS WITHIN THE SWI/SNF COMPLEX PREDICT PATIENTS’ AGE OF ONSET AND TYPE OF DISEASE
Authors: Till Holsten, Martin Hasselblatt, Uwe Kordes, Reiner Siebert, Reinhard Schneppenheim, Michael Frühwald, Ulrich Schüller
Journal: Neuro-Oncology (2017)

Germline mutations affecting the SWI/SNF chromatin remodeling complex are associated with a broad spectrum of different diseases, including malignant and benign tumors as well as neurodevelopmental disorders. Such mutations are detected in multiple genes of the complex and encompass a variety of mutation types. However, due to the rarity of mutation carriers, very little is known about the impact of specific SWI/SNF mutations on the phenotype of the affected individual. In this meta-analysis, we link genetic and clinical data from more than 400 families and more than 500 patients affected by SWI/SNF germline alterations, including over 40 so far unpublished patients. Here we demonstrate that large deletions and truncating mutations of a gene tend to be associated with malignancy and early-onset-disease, while non-truncating mutations may cause non-malignant disorders, such as Coffin-Siris-syndrome or late onset tumors like Schwannomas or Meningiomas (p=<0.0001). Importantly, germline SWI/SNF mutations may also be detected in healthy relatives, although this does not hold true for families with whole gene deletions. Our data may have important implications for genetic counseling of affected families and will pave the way for functional mutation analyses that may improve the understanding of SWI/SNF-related disorders.
One voice: the 1st international symposium on paediatricpediatric concussion
Authors: Christine Provvidenza, Dayna Greenspoon, Stephanie McFarland, Andrea Hickling, Phil Fait, Nick Reed
Journal: British Journal of Sports Medicine (2017)

Objective One Voice: the 1st International Symposium on Paediatric Concussionis a knowledge sharing event dedicated to translating research generated by the paediatric concussion community. The objective of this study was to evaluate the effectiveness of pre-symposium webinars and collaborative workshops as part of the symposium. Design Quantitative, cross sectional, one-group survey design Setting Paediatric rehabilitation hospital. Participants Sixty international paediatric concussion leaders representing various stakeholder groups. Intervention Knowledge sharing webinars and action plan development through facilitated workshops Outcome measures Surveys were designed to assess: the effectiveness of the webinars as a knowledge sharing strategy; and the experiences of the stakeholders participating in action planning workshops. Results Participants found the webinars to be effective in highlighting international research (93%) and education initiatives (91%). There was agreement that the symposium provided participants with the opportunity to engage (97%) and network (96%) with others, as well as co-create an action plan (95%) with three strategic directions: 1) connecting kids to care; 2) moving facts forward; and 3) driving big change. Conclusions One Voice was developed to support the paediatric concussion community to best help children with concussion do the things they want, need and love to do. One Voice enabled the development of a collaborative international action plan in paediatric concussion. Findings will inform the development and delivery of future symposia and action planning events specific to paediatric concussion to meet the needs of this population. Moving the strategic directions forward will help guide the future of paediatric concussion care globally. Competing interests None.
Inhibition of hTERT and telomerase activity via hampering MAPK kinase signaling in renal cell carcinoma cell lines.
Authors: Rajendra Prasad, Deeksha Pal
Journal: Journal of Clinical Oncology (2014)

e13501 Background: Telomerase adds species specific telomeric repeats onto the ends of chromosomes. Inhibition of telomerase and Human telomerase reverse transcriptase (hTERT) is an exciting therapeutic target since it is required for the long term proliferation of most cancer. In this study we use hTERT inhibition as a anticancer approach in renal cell carcinoma. Methods: 82 cases of RCC were included in the present study. Relative telomerase activity was measured by Telo TAGGG Telomerase PCR ELISA PLUSsupplied by Roche applied science as per the manufacturer’s instruction. Gene expression of hTERT was estimated by real time PCR. RCC cell lines ACHN and A498 were used in the study. Activator and inhibitor of MAPK pathway EGF and U0126 was used at 80ng/ml and 20µM concentration respectively. To confirm the activation and inhibition of MAPK pathway phosphorylation of ERK was checked by RayBio cell based ERK1/2 (Thr202/Tyr204) ELISA kit as per manfacturer’s instructions. Effect of hTERT inhibition on cancer properties of RCC cell lines ACHN & A498 was tested by MTT assay, Propidium iodide staining and cytofluorimetric analysis. Results: The expression of hTERT and telomerase activity were significantly higher in the tumor tissue in comparison with normal renal parenchyma (p=0.000). Cell proliferation was inhibited significantly after treatment with U0126 in ACHN and A498 cells as compare to untreated cells (p=0.001). Cell cycle analysis by Propidium iodide staining showed that the growth of the U0126 cells was arrested in SubG0/G1 phase (p=0.001).Whereas Cytofluorimetric analysis of the AnnexinV-FITC versus PI staining revealed that U0126 treatment induced apoptosis in ACHN and A498 cells (p=0.001). Conclusions: Our result suggests the expression of hTERT was significantly higher in tumor tissue as compare to normal renal tissue. Inhibition of hTERT, drove RCC cancer cells into crisis and death. Thus inhibition of hTERT via inhibition of MAPK pathway may offer new opportunities for realizing the promise of telomerase inhibition therapy.
Quadriceps Strength and Osteoarthritis Progression in Malaligned and Lax Knees
Authors: James Judge
Journal: Annals of Internal Medicine (2004)

Letters20 January 2004Quadriceps Strength and Osteoarthritis Progression in Malaligned and Lax KneesJames Judge, MDJames Judge, MDFrom University of Connecticut School of Medicine, Farmington, CT 06032.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-140-2-200401200-00026 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail TO THE EDITOR:The article on quadriceps strength and knee arthritis by Sharma and colleagues (1) has received enormous coverage in the press and on Web sites. The “take-home” message received by patients may be that strength is bad for you. The average patient with knee arthritis is obese, and many have the metabolic syndrome. Sharma and colleagues' findings may thwart progress in moving our overweight and sedentary population off the couch. For this reason, it is critical to review their methods carefully.The authors found that participants with quadriceps muscle strength above the median had higher rates of radiologic ...Reference1. Sharma L, Dunlop DD, Cahue S, Song J, Hayes KW. Quadriceps strength and osteoarthritis progression in malaligned and lax knees. Ann Intern Med. 2003;138:613-9. [PMID: 12693882] LinkGoogle Scholar Author, Article, and Disclosure InformationAuthors: James Judge, MDAffiliations: From University of Connecticut School of Medicine, Farmington, CT 06032. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetailsSee AlsoQuadriceps Strength and Osteoarthritis Progression in Malaligned and Lax Knees Leena Sharma , Dorothy D. Dunlop , September Cahue , Jing Song , and Karen W. Hayes Quadriceps Strength and Osteoarthritis Progression in Malaligned and Lax Knees Mary E. Moore Quadriceps Strength and Osteoarthritis Progression in Malaligned and Lax Knees David Riley Quadriceps Strength and Osteoarthritis Progression in Malaligned and Lax Knees Leena Sharma , Dorothy D. Dunlop , and Karen W. Hayes Is a Strong Quadriceps Muscle Bad for a Patient with Knee Osteoarthritis? Leena Sharma , Dorothy D. Dunlop , and Karen W. Hayes Metrics 20 January 2004Volume 140, Issue 2Page: 149KeywordsArthritisBody mass indexKneesMetabolic syndromeMusclesOsteoarthritisOverweight ePublished: 20 January 2004 Issue Published: 20 January 2004 Copyright & PermissionsCopyright © 2004 by American College of Physicians. All Rights Reserved.PDF downloadLoading ...
LGG-01. PROLIFERATIVE INDEX IN PEDIATRIC PILOCYTIC ASTROCYTOMA BY REGION OF ORIGIN AND PREDICTION OF CLINICAL BEHAVIOR
Authors: Albert Tu, Aaron Robison, Edward Melamed, Ian Buchanan, Omid Hariri, Harish Babu, Lynda Szymanski, Mark Krieger
Journal: Neuro-Oncology (2017)

INTRODUCTION: Pilocytic astrocytomas are common tumors that arise in typical locations in the brain. Studies show that genetic and molecular profiles vary with location of origin. We sought to determine whether differences in cell proliferation of tumors arising from different regions exist and whether these predict clinical behaviour prior to and post resection. METHODS: A retrospective review of all patients undergoing surgery for a pilocytic astrocytoma at Children’s Hospital of Los Angeles from 2003 – 2015 was carried out. Tumor location was determined by imaging and stratified into infratentorial, supratentorial or optic pathway origin. Ki-67 activity was determined by immunostaining. Statistical analysis was carried out using SPSS V22. A p value of 0.05 was considered significant. RESULTS: A total of 77 patients were included for study. 51 had posterior fossa tumors, 12 had supratentorial tumors, and 14 optic pathway tumors. Mean Ki-67 was 3.67%, 4.09%, and 3.83% in infratentorial, optic pathway, and supratentorial tumors respectively (p = 0.82). Ki67 of 4% or greater trended towards a higher recurrence (p = 0.11) and lower gross total resection (p = 0.15) with a younger age at presentation (p = 0.04). Ki-67 also had a weak correlation to shorter survival after surgery (r = -0.103, p = 0.41). The strongest predictor for tumor recurrence was incomplete resection (p<0.001, OR = 13.0). CONCLUSION: Pilocytic astrocytomas do not change in proliferative index according to location despite genetic and molecular variations. Cell proliferation of greater than 4% was seen in younger patients, and associated with a shorter duration to and higher recurrence risk. Further study is needed in order to identify better predictors for clinical behaviour.
An evolutionary approach to sign language emergence: From <i>state</i> to <i>process</i>
Authors: Yasamin Motamedi, Marieke Schouwstra, Simon Kirby
Journal: Behavioral and Brain Sciences (2017)

Abstract Understanding the relationship between gesture, sign, and speech offers a valuable tool for investigating how language emerges from a nonlinguistic state. We propose that the focus on linguistic status is problematic, and a shift to focus on the processes that shape these systems serves to explain the relationship between them and contributes to the central question of how language evolves.
The impact of concussion on brain adaptation: the use of prism glasses as a novel diagnostic tool
Authors: Elaine C Little, Carolyn A Emery, Kathryn Schneider, Sean P Dukelow
Journal: British Journal of Sports Medicine (2017)

Objective To evaluate brain adaptation following concussion. Do youth with a history of previous or acute concussion require more ball throws to land on or near a target, when wearing prism glasses (bend light to the left by 15&amp;ring;), than youth with none? Design Cross-sectional study. Setting Sport Injury Prevention Research Centre, Alberta, Canada. Participants Ice hockey players: 21 with acute concussion [(17 males), mean age 13.8 (95% CI: 13.4, 14.2), median number of days since concussion 4 (range 2–11)], 40 reporting previous concussion(s) [(33 males), mean age 13.4 (95% CI: 13.1, 13.7), median number of days since last concussion 620 (range 90–1560)], and 40 with no concussion history [(36 males), mean age 12.9 (95% CI: 12.5, 13.2)]. Independent variable Lifetime concussion history (yes/no) or acute concussion (&lt;10 days). Dependent variable Number of throws for brain adaptation. Main results A significant concussion effect was identified across groups [F(2,98)=26.17, p&lt;0.001]. Post-hoc analyses showed a difference in the number of throws in players with no concussion history versus players reporting previous concussions [−4.700 (95% CI: −8.44, −0.96)] and acute concussions [−13.440 (95% CI: −17.89, −8.99)], as well as between previous history versus acute concussion groups [−8.740 (95% CI: −13.19, −4.29)]. Conclusions Concussion history and acute concussion appears to negatively impact brain plasticity in youth. They do not adapt as well as individuals with no concussion history. Our results support the use of a prism adaptation paradigm for identifying/quantifying short and long-term neurologic impairments in youth following concussion. Competing interests None.
Functional evidence for derivation of systemic histiocytic neoplasms from hematopoietic stem/progenitor cells
Authors: Benjamin H. Durham, Damien Roos-Weil, Claude Baillou, Fleur Cohen-Aubart, Akihide Yoshimi, Makoto Miyara, Matthias Papo, Zofia Hélias-Rodzewicz, Nathalie Terrones, Neval Ozkaya, Ahmet Dogan, Raajit Rampal, Fanny Urbain, Lucie Le Fèvre, Eli L. Diamond, Christopher Y. Park, Thomas Papo, Frédéric Charlotte, Guy Gorochov, Valérie Taly, Olivier A. Bernard, Zahir Amoura, Omar Abdel-Wahab, François M. Lemoine, Julien Haroche, Jean-François Emile
Journal: Blood (2017)
Clinical and pathological comparison of patients with breast cancer under age 35 with those over age 70.
Authors: Pinar Dal, Samed Rahatli, Nadire Kucukoztas, Selim Yalcin, Omer Dizdar, Ozden Altundag, Ozgur Ozyilkan
Journal: Journal of Clinical Oncology (2012)

e11045 Background: Despite intensive treatment given to young breast cancer women, prognosis is stil poor in this group of population. However, older patients seem to have better prognosis. Methods: We performed the retrospective study for 50 women ≤35 yo compared with 50 women ≥70 yo, diagnosed and treated from 1991-2009 at Baskent University Hospitals. Results: Older women were more likely to have lower tumor grades and higher HR positivity, ≤35 years old women were more likely to have Her2 positivity, larger tumor size and metastatic lymph node involvement. Median follow up duration was 21.7 (2-91) months for ≤35 group, whereas it was 36.2 (4-195) months for ≥70 years group. Recurrence was observed in 34% of the young age group and 24% of the older age group. Three patients from the young group and 4 patients for ≥70 years age group died during the follow-up Young breast cancer patients have poor prognosis. Even after adjustment of the data, Overall survival and relapse free survival showed worse prognosis. Normal prognostic factors like tumor size, axillary lymph node involvement and grading can therefore be not the explanation for the more agressive disease progression alone. Older women were more likely to have lower tumor grades and higher hormone receptor positivity, ≤35 years old women were more likely to have Her2 positivity, larger tumor size and metastatic lymph node involvement. Median follow up duration was 21.7 (2-91) months for ≤35 age group, whereas it was 36.2 (4-195) months for ≥70 years group. Recurrence was observed in 34% of the young age group and 24% of the older age group. Three patients from the young group and 4 patients for ≥70 years age group died during the follow-up Young breast cancer patients have poor prognosis. Even after adjustment of the data, Overall survival and relapse free survival showed worse prognosis. Normal prognostic factors like tumor size, axillary lymph node involvement and grading can therefore be not the explanation for the more agressive disease progression alone. Conclusions: There are various reasons such as difficulty in diagnosing the patients the patients at earlier stage because of the higher density of breast tissue at younger age may be one of the reason.
Association between expansion of primary healthcare and racial inequalities in mortality amenable to primary care in Brazil: A national longitudinal analysis
Authors: Thomas Hone, Davide Rasella, Mauricio L. Barreto, Azeem Majeed, Christopher Millett
Journal: PLoS Medicine (2017)

Background Universal health coverage (UHC) can play an important role in achieving Sustainable Development Goal (SDG) 10, which addresses reducing inequalities, but little supporting evidence is available from low- and middle-income countries. Brazil's Estratégia de Saúde da Família (ESF) (family health strategy) is a community-based primary healthcare (PHC) programme that has been expanding since the 1990s and is the main platform for delivering UHC in the country. We evaluated whether expansion of the ESF was associated with differential reductions in mortality amenable to PHC between racial groups. Methods and findings Municipality-level longitudinal fixed-effects panel regressions were used to examine associations between ESF coverage and mortality from ambulatory-care-sensitive conditions (ACSCs) in black/pardo (mixed race) and white individuals over the period 2000–2013. Models were adjusted for socio-economic development and wider health system variables. Over the period 2000–2013, there were 281,877 and 318,030 ACSC deaths (after age standardisation) in the black/pardo and white groups, respectively, in the 1,622 municipalities studied. Age-standardised ACSC mortality fell from 93.3 to 57.9 per 100,000 population in the black/pardo group and from 75.7 to 49.2 per 100,000 population in the white group. ESF expansion (from 0% to 100%) was associated with a 15.4% (rate ratio [RR]: 0.846; 95% CI: 0.796–0.899) reduction in ACSC mortality in the black/pardo group compared with a 6.8% (RR: 0.932; 95% CI: 0.892–0.974) reduction in the white group (coefficients significantly different, p = 0.012). These differential benefits were driven by greater reductions in mortality from infectious diseases, nutritional deficiencies and anaemia, diabetes, and cardiovascular disease in the black/pardo group. Although the analysis is ecological, sensitivity analyses suggest that over 30% of black/pardo deaths would have to be incorrectly coded for the results to be invalid. This study is limited by the use of municipal-aggregate data, which precludes individual-level inference. Omitted variable bias, where factors associated with ESF expansion are also associated with changes in mortality rates, may have influenced our findings, although sensitivity analyses show the robustness of the findings to pre-ESF trends and the inclusion of other municipal-level factors that could be associated with coverage. Conclusions PHC expansion is associated with reductions in racial group inequalities in mortality in Brazil. These findings highlight the importance of investment in PHC to achieve the SDGs aimed at improving health and reducing inequalities.