tbuckley/cabot-search huggingface dataset:
Do we need the PFAPA syndrome in adults with non-monogenic periodic fevers?
Authors: Antoine Fayand, Veronique Hentgen, Stephanie Ducharme-Bénard, Pierre Quartier, Brigitte Bader-Meunier, Isabelle Koné-Paut, Gilles Grateau, Sophie Georgin-Lavialle
Journal: Annals of the Rheumatic Diseases (2019)

Continuous variables are given in median (IQR).*Patients fulfilling only modified Marshall's criteria.AE, adverse effect leading to discontinuation; CR, complete response;CRP, C-reactive protein; NR, no response; NSAID, nonsteroidal anti-inflammatory drug;PFAPA, periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis; PR, partial response.
Plasmatic Extracellular Vesicles in Acute Graft-Versus-Host Disease after Haplo-Identical Allografting with Post-Transplant Cyclophosphamide
Authors: Giuseppe Lia, Clara Di Vito, Marta Tapparo, Stefania Bruno, Elisa Zaghi, Michela Calvi, Lucia Brunello, Jacopo Mariotti, Lorenzo Comba, Luisa Giaccone, Martina Fascì, Mario Boccadoro, Andrea Evangelista, Luca Castagna, Giovanni Camussi, Domenico Mavilio, Benedetto Bruno
Journal: Blood (2019)
The clinical mutatome of core binding factor leukemia
Authors: Sabrina Opatz, Stefanos A. Bamopoulos, Klaus H. Metzeler, Tobias Herold, Bianka Ksienzyk, Kathrin Bräundl, Sebastian Tschuri, Sebastian Vosberg, Nikola P. Konstandin, Christine Wang, Luise Hartmann, Alexander Graf, Stefan Krebs, Helmut Blum, Stephanie Schneider, Christian Thiede, Jan Moritz Middeke, Friedrich Stölzel, Christoph Röllig, Johannes Schetelig, Gerhard Ehninger, Alwin Krämer, Jan Braess, Dennis Görlich, Maria Cristina Sauerland, Wolfgang E. Berdel, Bernhard J. Wörmann, Wolfgang Hiddemann, Karsten Spiekermann, Stefan K. Bohlander, Philipp A. Greif
Journal: Leukemia (2020)

Abstract The fusion genes CBFB / MYH11 and RUNX1 / RUNX1T1 block differentiation through disruption of the core binding factor (CBF) complex and are found in 10–15% of adult de novo acute myeloid leukemia (AML) cases. This AML subtype is associated with a favorable prognosis; however, nearly half of CBF-rearranged patients cannot be cured with chemotherapy. This divergent outcome might be due to additional mutations, whose spectrum and prognostic relevance remains hardly defined. Here, we identify nonsilent mutations, which may collaborate with CBF-rearrangements during leukemogenesis by targeted sequencing of 129 genes in 292 adult CBF leukemia patients, and thus provide a comprehensive overview of the mutational spectrum (‘mutatome’) in CBF leukemia. Thereby, we detected fundamental differences between CBFB/MYH11 - and RUNX1/RUNX1T1 -rearranged patients with ASXL2 , JAK2, JAK3, RAD21 , TET2, and ZBTB7A being strongly correlated with the latter subgroup. We found prognostic relevance of mutations in genes previously known to be AML-associated such as KIT , SMC1A, and DHX15 and identified novel, recurrent mutations in NFE2 (3%), MN1 (4%), HERC1 (3%), and ZFHX4 (5%). Furthermore, age &gt;60 years, nonprimary AML and loss of the Y-chromosomes are important predictors of survival. These findings are important for refinement of treatment stratification and development of targeted therapy approaches in CBF leukemia.
Data Sharing for the Public Good
Authors: Kathy J Helzlsouer, Jill Reedy
Journal: JNCI Journal of the National Cancer Institute (2019)

One-half million people joined the UK Biobank, described in the consent form as a "public good resource" with an overarching goal to support research to "promote health throughout society" (1).The study by Arthur et al. (2) in this issue of the Journal of the National Cancer Institute, which used this shared resource, is a positive step towards fulfilling the contract the UK Biobank made with participants to serve the public good.The investigators used available genetic and questionnaire data to examine whether behavioral factors may modify inherited genetic risk for breast cancer and found that a healthier lifestyle was associated with a lower risk of breast cancer, especially among those with the highest polygenic risk score.The analysis highlights the societal benefit of data sharing and lends support to further defining synergistic models to inform population guidance.Arthur et al. leveraged the available data to calculate polygenic risk scores associated with breast cancer risk and a healthy lifestyle index for 146 326 women.By pairing combinations of single nucleotide polymorphisms (SNPs) (via a polygenic risk score) and combinations of modifiable risk factors (via a heathy lifestyle index), the results of the study lend support for guidance on risk factors that can be modified or controlled, even among those at high risk based on genetic factors.This may help to alleviate some of the potential concerns associated with using a genetic-based risk score if there is the perception that nothing can change the risk.The results of the combined approach in this study can inform how risk may be communicated with a more integrated understanding of both nonmodifiable and modifiable risk factors.Caution should be exercised in interpreting the results of this study, particularly with respect to use of risk scores.Applying risk prediction models to the individual and extrapolating models to other populations, for example non-European populations, may not be appropriate.A comprehensive approach to breast cancer risk prediction is required to reflect the complexity of cancer etiology that includes environmental, lifestyle, constitutional, and genetic factors.Risk prediction models for the general population continue to evolve.The initial model to have widespread use for the general population of women is
An observational retrospective study to evaluate the incidence of acquired EGFR T790M resistance in NSCLC patients with EGFR mutation following progression after at least one prior EGFR TKI treatment in Taiwan: ARISE study
Authors: S.-G. Wu, C.-L. Chiang, C.-Y. Liu, C.-C. Wang, P.-L. Su, T.-C. Hsia, J.-Y. Shih, G.-C. Chang
Journal: Annals of Oncology (2019)
Back to basics: 10 facts every person should know about back pain
Authors: Peter B O'Sullivan, JP Caneiro, Kieran O'Sullivan, Ivan Lin, Samantha Bunzli, Kevin Wernli, Mary O'Keeffe
Journal: British Journal of Sports Medicine (2019)

Low back pain (LBP) is the leading cause of disability worldwide, and is often associated with costly, ineffective and sometimes harmful care.1 What drives disability and poor care?2 Unhelpful beliefs about LBP are associated with greater levels of pain, disability, work absenteeism, medication use and healthcare seeking.3 Unhelpful beliefs are common in people with and without LBP, and can be reinforced by the media, industry groups and well-meaning clinicians. In this editorial and infographic, we identify 10 common unhelpful beliefs about LBP and outline how they may influence behavioural and psychological responses to pain. We counter with 10 important facts about LBP, calling on clinicians to incorporate these into their interactions with patients. The infographic is designed for the public use (figure 1). Figure 1 What every person should know about low back pain. Unhelpful LBP beliefs are common, culturally endorsed and not supported by evidence.2 4 5
Identifying target cells for a tick-borne virus that causes fatal hemorrhagic fever
Authors: Satoko Yamaoka, Carla Weisend, Hideki Ebihara
Journal: Journal of Clinical Investigation (2020)

Severe fever with thrombocytopenia syndrome (SFTS) is an emerging disease in China, South Korea, and Japan caused by the tick-borne SFTS virus (SFTSV). Severe and fatal SFTS presents as a hemorrhagic fever characterized by high viral load, uncontrolled inflammatory response, dysregulated adaptive immunity, coagulation abnormalities, hemorrhage, and multiorgan failure with up to 33% case fatality rates (CFRs). Despite its public health significance in Asia, vaccines and specific therapeutics against SFTS are still unavailable. A better understanding of the pathogenesis of SFTS is crucial to improving medical countermeasures against this devastating disease. In this issue of the JCI, Suzuki and colleagues analyzed histopathological samples from 22 individuals who succumbed to SFTS, and identified antibody-producing B cell-lineage plasmablasts and macrophages as principal target cells for SFTSV infection in fatal SFTS. Their results suggest that SFTSV-infected post-germinal center B cells, plasmablasts, and macrophages affect systemic immunopathology and dysregulation, which likely leads to fatal outcomes.
Interaction of GSTP1 Ile105Val polymorphism and cruciferous/alliums vegetable intake in the risk of breast cancer
Authors: Sang-Ah Lee, Xiao-ou Shu, Wei Lu, Chuanzhong Ye, Ying Zheng, Qiuyin Cai, Kai Gu, Yu-Tang Gao, Wei Zheng
Journal: Cancer Research (2007)

2598  The high levels of isothiocyanate and garlic allyl sulfides found in cruciferous and alliums vegetables are known to have anti-cancer properties and are inducers of multiple Phase II enzymes including glutathione-s-transferases (GST). Using data and specimens from the Shanghai Breast Cancer Study, we evaluated the independent and joint effects of diet and GSTP1 gene polymorphism on breast cancer risk. Included in the study were 3039 cases and 3037 controls who completed a dietary survey and were genotyped for the GSTP1 Ile105Val polymorphism. Total intake of cruciferous and alliums vegetables was obtained using a validated food-frequency questionnaire. Unconditional logistic regression models were used in the statistical analyses. Carrying GSTP1 Val/Val genotype was associated with an increased risk of breast cancer (Odd ratio (OR) =1.53, 95% confidence interval (CI) 1.15-2.04), a risk predominately seen in pre-menopausal women (OR = 1.76, 95% CI 1.22-2.55). No apparent overall association was found for intake of crucifers or alliums vegetables. However, an interactive effect was found between GSTP1 Ile105Val polymorphism and intake of cruciferous (Pinteraction=0.002) or alliums vegetables (Pinteraction=0.005). A 2-fold elevated risk ( OR = 1.95, 95% CI 1.20-3.00) was found for women who had the GSTP1 Val/Val genotype and consumed low levels of cruciferous vegetables compared to those who carried the GSTP1 Ile/Ile and Ile/Val genotypes and consumed high levels of this group of vegetables. Similarly, the risk associated with lower alliums vegetable intake was primarily seen in women with the GSTP1 Val/Val genotype (OR = 1.79, 95% CI 0.81-3.98). This study suggests that the effect of cruciferous or alliums vegetable intake on breast cancer risk may depend on the genotype of the GSTP1gene
A heuristic platform for clinical interpretation of cancer genome sequencing data.
Authors: Eliezer Mendel Van Allen, Nikhil Wagle, Gregory Kryukov, Alexis Ramos, Gad Getz, Levi A. Garraway
Journal: Journal of Clinical Oncology (2012)

10502 Background: The ability to identify and effectively sort the full spectrum of biologically and therapeutically relevant genetic alterations identified by massively parallel sequencing may improve cancer care. A major challenge involves rapid and rational categorization of data-intensive output, including somatic mutations, insertions/deletions, copy number alterations, and rearrangements into ranked categories for clinician review. Methods: A database of clinically actionable alterations was created, consisting of over 100 annotated genes known to undergo somatic genomic alterations in cancer that may impact clinical decision-making. A heuristic algorithm was developed, which selectively identifies somatic alterations based on the clinically actionable alterations database. Remaining variants are sorted based on additional heuristics, including high priority alterations based on presence in the Cancer Gene Census, biologically significant cancer genes based on presence in COSMIC or MSigDB, and low priority alterations in the same gene family as biologically significant cancer genes. The heuristic algorithm was applied to whole exome sequencing data of clinical samples and whole genome sequencing data from a cohort of prostate cancer samples processed using established Broad Institute pipelines. Results: Application of the heuristic algorithm to the prostate cancer whole genome rearrangement data identified 172 (out of 5978) rearrangements involving actionable genes (averaging 2-3 events per tumor). Furthermore, two clinical samples processed prospectively were analyzed, yielding three potentially actionable alterations for clinical review. Conclusions: The heuristic model for clinical interpretation of next generation sequencing data may facilitate rapid analysis of tumor genomic information for clinician review by identifying and prioritizing alterations that can directly impact care. Our platform can also be applied to research data to prospectively explore clinically relevant findings from existing cohorts. Future analytical approaches using heuristic or probabilistic algorithms should underpin a robust prospective assessment of clinical cancer genome data.
皮肤 T 细胞淋巴瘤如何影响生活质量及其对个体患者及美国医疗系统产生的费用
Authors: Y.R. Semenov, A.R. Rosenberg, C. Herbosa, N. Mehta-Shah, A.C. Musiek
Journal: British Journal of Dermatology (2020)

皮肤 T 细胞淋巴瘤 (CTCL) 在美国是一种影响近 40000 人的皮肤癌。与其他皮肤癌不同, CTCL 通常外观像皮疹一样, 而且可能覆盖少量或大量皮肤。CTCL 患者通常会经历恐惧、尴尬、瘙痒、治疗副作用和财务问题, 所有这些都可能会降低生活质量。 美国密苏里州圣路易斯华盛顿大学医学院的研究团队开展了一项调查,以了解 CTCL 如何影响生活质量,并估计其对个体患者和美国医疗系统产生的费用。 67 例 CTCL 患者完成了一份被称为安大略省健康状况评价 (HUI3) 的广泛使用的调查问卷。评分被用于计算 CTCL 患者失去的质量调整生命年 (QALY) 的平均数。QALY 是一种测量疾病负担的方法,1 QALY 等同于十分健康的一年。该数字用于估计 CTCL 的社会和经济负担。 研究发现, 与美国一般人群的结果相比,研究患者的生活质量得分明显更差。具体而言,CTCL 与情绪痛苦和身体疼痛的大幅增加相关, 并且在说话和走动能力方面出现较小的衰退。 估计在平均患者寿命中 CTCL 产生的费用为 73389 美元,对美国医疗系统产生的费用为 28.4 亿美元。这些研究结果表明, CTCL 是一种昂贵的疾病,与其他损害健康的问题(如糖尿病和肾衰竭)一样,其可显著降低生活质量。因此, 作者得出结论,CTCL 有效管理有可能给个体患者以及医疗系统带来巨大益处。 This summary relates to the study: 皮肤 T 细胞淋巴瘤的健康相关的生活质量和经济影响
Longitudinal Trajectory of Frailty in Blood or Marrow Transplant (BMT) Survivors - a BMT Survivor Study (BMTSS)
Authors: Mukta Arora, Yanjun Chen, Jessica Wu, Lindsey Hageman, Emily Ness, Michelle Kung, Liton F. Francisco, Alysia Bosworth, Daniel J. Weisdorf, Stephen J Forman, Wendy Landier, Merve - Pamukçuoğlu, Saro H. Armenian, Lennie Wong, Smita Bhatia
Journal: Blood (2019)
Ramifications of the VA MISSION Act of 2018 on Mental Health
Authors: Neil Krishan Aggarwal
Journal: JAMA Psychiatry (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 Psychiatry 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 Psychiatry journal
An Uncommon Initial Presentation of T-Cell/Histiocyte-Rich B-Cell Lymphoma
Authors: Nuh Filizoglu, Tunc Ones, Salih Ozguven, Halil Turgut Turoglu, Tanju Yusuf Erdil
Journal: Clinical Nuclear Medicine (2019)

Abstract T-cell/histiocyte-rich B-cell lymphoma accounts for approximately 1% to 3% of all cases of diffuse large B-cell lymphoma, and involvement of the kidneys comprises a mere 1% of the total primary extranodal lymphomas. We present a case of T-cell/histiocyte-rich B-cell lymphoma who had acute renal failure at initial presentation with bilateral lymphomatous infiltration depicted on FDG PET/CT scan. Four months after the treatment, a repeat FDG PET/CT scan revealed complete resolution of the renal lesions, indicative of the complete remission for kidneys.
Prospective evaluation of serial 2-hydroxyglutarate in acute myeloid leukemia (AML) to determine response to therapy and predict relapse.
Authors: Amir Tahmasb Fathi, Omar Ibrahim Abdel-Wahab, Hossein Sadrzadeh, Julia Foster, Meghan Burke, Darrell R. Borger, A. John Iafrate, Sophia Adamia, Suiyang Liu, Karen K. Ballen, Philip C. Amrein, Eyal C. Attar, Kimberly Straley, Katharine Yen, David P. Schenkein, Donna S. Neuberg, Ross L. Levine, Yi-Bin Albert Chen, Richard M. Stone
Journal: Journal of Clinical Oncology (2012)

6606 Background: Mutations in isocitrate dehydrogenase (IDH1 and IDH2) occur in 10-20% of AML patients and result in production of 2-hydroxyglutarate (2-HG). We hypothesize that serial 2-HG quantification may be used to monitor response and predict relapse in patients with AML. Methods: We are conducting a prospective study at MGH and DFCI to (1) assess changes in serum and urine 2-HG levels during treatment in patients with newly diagnosed AML, (2) compare 2-HG levels in serum, urine, and bone marrow and, (3) serially compare 2-HG levels with IDH1/2mutant allele burden. In those with elevated serum 2-HG (≥1000ng/ml), 2-HG is monitored serially or at relapse. Results: To date, 20 patients have been enrolled, 5 (25%) of whom had elevated baseline serum 2-HG. All 5 were found to have IDH1/2 mutations. The serum 2-HG for these patients was significantly higher than for those who were IDH-wt (median 1933 vs 87ng/mL; p&lt;0.001). Urine 2-HG was also higher in IDH-mutant patients (median 30500 vs 4230ng/mL; p&lt;0.021), as was bone marrow 2-HG (median 9870 vs 309ng/mL; p&lt;0.005). Serum 2-HG levels strongly correlated with that in urine (R 2 0.987). Serum 2-HG decreased in all IDH mutant patients on therapy, but more rapidly in those receiving induction chemotherapy (Table), all of whom achieved remission, than those receiving hypomethylatingagents. Conclusions: Patients with IDH-mutant AML have markedly elevated serum and urine 2-HG. 2-HG levels decreased with therapy and there is a strong correlation between serum and urine 2-HG. Data on the sensitivity of serial 2-HG monitoring as well as comparison with mutant IDH1/2allele burden will be presented. This data suggests that serial 2-HG quantification may be a valuable non-invasive biomarker in this genetically defined subset of AML. [Table: see text]
Outcomes in intermediate-risk squamous cell carcinomas treated with Mohs micrographic surgery compared with wide local excision
Authors: David D. Xiong, Brandon T. Beal, Vamsi Varra, Marla Rodriguez, Hannah Cundall, Neil M. Woody, Allison T. Vidimos, Shlomo A. Koyfman, Thomas J. Knackstedt
Journal: Journal of the American Academy of Dermatology (2019)
CD4+ T cell restoration and control of hepatitis C virus replication after childbirth
Authors: Samantha L. Coss, Almudena Torres-Cornejo, Mona R. Prasad, Melissa Moore-Clingenpeel, Arash Grakoui, Georg M. Lauer, Christopher M. Walker, Jonathan R. Honegger
Journal: Journal of Clinical Investigation (2020)

Chronic hepatitis C virus (HCV) infection is characterized by persistent high-level viremia and defective cellular immunity, including a lack of functional HCV-specific CD4+ T cells. We previously described an exceptional period of viral control that occurs in some chronically infected women after childbirth. Here, we investigated whether reduced HCV replication after pregnancy is associated with recovery of CD4+ T cell immunity. Class II tetramer analysis revealed significantly greater frequencies of circulating HCV-specific CD4+ T cells at 3 months postpartum in women with concurrent declines in viremia compared with those with stable viremia. These HCV-specific CD4+ T cells had an effector-memory phenotype. Inhibitory coreceptor expression on these cells corresponded to the degree of viral control. Circulating CD4+ T cells produced IL-2 and IFN-γ after HCV antigen stimulation, demonstrating Th1 functionality. These data provide direct evidence that the profound loss of HCV-specific CD4+ T cell help that results in chronic infection is reversible following pregnancy, and this recovery of CD4+ T cells is associated with at least transient control of persistent viral replication.
Reimagining Surgical Success—Caring for Those Who Die Despite Our Best Efforts
Authors: Daniel E. Hall
Journal: JAMA Surgery (2020)

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 Surgery 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 Surgery journal
Sustained release of dermal papilla-derived extracellular vesicles from injectable microgel promotes hair growth
Authors: Yuxin Chen, Junfei Huang, Ruosi Chen, Lunan Yang, Jin Wang, Bingcheng Liu, Lijuan Du, Yanhua Yi, James Jia, Yanwei Xu, Qian Chen, Djakaya Guydidier Ngondi, Yong Miao, Zhiqi Hu
Journal: Theranostics (2020)

Hair regeneration has long captured researchers' attention because alopecia is a common condition and current therapeutic approaches have significant limitations. Dermal papilla (DP) cells serve as a signaling center in hair follicles and regulate hair formation and cycling by paracrine secretion. Secreted EVs are important signaling mediators for intercellular communication, and DP-derived extracellular vesicles (DP-EVs) may play an important role in hair regeneration. However, the instability of EVs in vivo and their low long-term retention after transplantation hinder their use in clinical applications. Methods: Human DP-EVs were encapsulated in partially oxidized sodium alginate (OSA) hydrogels, yielding OSA-encapsulated EVs (OSA-EVs), which act as a sustained-release system to increase the potential therapeutic effect of DP-EVs. The ability of the OSA-EVs to protect protein was assessed. The hair regeneration capacity of OSA-EVs, as well as the underlying mechanism, was explored in hair organ culture and a mouse model of depilation. Results: The OSA-EVs were approximately 100 μm in diameter, and as the hydrogel degraded, DP-EVs were gradually released. In addition, the hydrogel markedly increased the stability of vesicular proteins and increased the retention of EVs in vitro and in vivo. The OSA-EVs significantly facilitated proliferation of hair matrix cells, prolonged anagen phase in cultured human hairs, and accelerated the regrowth of back hair in mice after depilation. These effects may be due to upregulation of hair growth-promoting signaling molecules such as Wnt3a and β-catenin, and downregulation of inhibitory molecule BMP2. Conclusion: This study demonstrated that OSA hydrogels promote the therapeutic effects of DP-EVs, and indicate that our novel OSA-EVs could be used to treat alopecia.