tbuckley/cabot-search huggingface dataset:
The genetic basis for most patients with pustular skin disease remains elusive
Authors: R. Mössner, D. Wilsmann-Theis, V. Oji, P. Gkogkolou, S. Löhr, P. Schulz, A. Körber, J.C. Prinz, R. Renner, K. Schäkel, L. Vogelsang, K.-P. Peters, S. Philipp, K. Reich, H. Ständer, A. Jacobi, A. Weyergraf, K. Kingo, S. Kõks, S. Gerdes, K. Steinz, T. Schill, K. G. Griewank, M. Müller, S. Frey, L. Ebertsch, S. Uebe, M. Sticherling, H. Sticht, U. Hüffmeier
Journal: British Journal of Dermatology (2017)

Rare variants in the genes IL36RN, CARD14 and AP1S3 have been identified to cause or contribute to pustular skin diseases, primarily generalized pustular psoriasis (GPP).To better understand the disease relevance of these genes, we screened our cohorts of patients with pustular skin diseases [primarily GPP and palmoplantar pustular psoriasis (PPP)] for coding changes in these three genes. Carriers of single heterozygous IL36RN mutations were screened for a second mutation in IL36RN.Coding exons of IL36RN, CARD14 and AP1S3 were sequenced in 67 patients - 61 with GPP, two with acute generalized exanthematous pustulosis and four with acrodermatitis continua of Hallopeau. We screened IL36RN and AP1S3 for intragenic copy-number variants and 258 patients with PPP for coding changes in AP1S3. Eleven heterozygous IL36RN mutations carriers were analysed for a second noncoding IL36RN mutation. Genotype-phenotype correlations in carriers/noncarriers of IL36RN mutations were assessed within the GPP cohort.The majority of patients (GPP, 64%) did not carry rare variants in any of the three genes. Biallelic and monoallelic IL36RN mutations were identified in 15 and five patients with GPP, respectively. Noncoding rare IL36RN variants were not identified in heterozygous carriers. The only significant genotype-phenotype correlation observed for IL36RN mutation carriers was early age at disease onset. Additional rare CARD14 or AP1S3 variants were identified in 15% of IL36RN mutation carriers.The identification of IL36RN mutation carriers harbouring additional rare variants in CARD14 or AP1S3 indicates a more complex mode of inheritance of pustular psoriasis. Our results suggest that, in heterozygous IL36RN mutation carriers, there are additional disease-causing genetic factors outside IL36RN.
Pregnancy outcomes in inherited bone marrow failure syndromes
Authors: John M. Gansner, Maureen M. Achebe, Kathryn J. Gray, Revital Yefidoff-Freedman, Elena Labovitis, Aric Parnes, Jean M. Connors, Nathan T. Connell, Marie N. Discenza, Robert I. Handin, Nancy Berliner, Akiko Shimamura, Elizabeth S. Ginsburg, Nicole A. Smith
Journal: Blood (2017)
SPINE DISEASE PREVENTION IN TECHNICAL SPORTS
Authors: Irina Zelenkova, Sergey Zotkin, Dmithry Almiashev, Dmithry Savin
Journal: British Journal of Sports Medicine (2017)

Background Rally raid is a form of long distance off-road racing that takes place over several days. Injuries and spine disease related to the high speed and off-road profile of the track are common in these athletes. Objective To examine the effect of a program of functional training implemented in the yearly preparation cycle on the risk of spine injury. Design Prospective intervention study, without control group. Setting Professional rally raid. Patients (or Participants) 16 male professional truck drivers (177 (176–182) cm, 82.4 (75.4–85.6) kg, body mass index 25.4 (24.6–26.8) kg/m 2 , 32.5 (29.0–39.5) yrs), all high achievers with regular participation in rally raids. Intervention An exercise program was prescribed from Oct 2014 to Dec 2015 which included six separate 3-week blocks of training (six days of training with 1 day off in each block). Main Outcome Measurements Analysis of radiological parameters: the formation of new hernia or impairment of current state of disc protrusion, radicular symptoms, Modic changes, hernia types, subchondral sclerosis according to Grogan classification, Pfirrmann grade. Muscle endurance was also tested in the plank position. Results An increase in muscle endurance was observed in all athletes (p&gt;0.05). Compared to the 2013–2014 season, in 2015 no new hernias or radicular symptoms were registered. Disk protrusions also did not increase in 2015, compared to 2013/14. Conclusion There was no deterioration in radiological changes and an improved trunk muscle endurance after the introduction of a functional training program, documenting the importance of functional training in motor sports.
Acute Response of Guinea Pigs to the Inhalation of Ketone Vapors
Authors: H. Specht, J. W. Miller, P. J. Valaer, R. R. Sayers
Journal: JAMA (1941)

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U.K. national audit of extracorporeal photopheresis in cutaneous T-cell lymphoma
Authors: S. Sanyal, F. Child, A. Alfred, T. Callaghan, N. Alband, S. Whittaker, R. Cowan, E. Parry, S. Robinson, M.G.S. Dunnill, M. Wain, S. Morris, R. Malladi, S. Tahir, A. Howles, A. Arumainathan, R. Azurdia, J. Grant-Casey, R. N. Matin, D. Gilson, C. Howell, K. El-Gheriani, P. Taylor, J. Scarisbrick
Journal: British Journal of Dermatology (2017)
Yarrowia lipolytica fungemia in patients with severe polytrauma requiring intensive care admission: analysis of 32 cases
Authors: Mabrouk Bahloul, Kamilia Chtara, Olfa Turki, Nadia Khlaf Bouaziz, Kais Regaieg, Maha Hammami, Wiem Ben Amar, Imen Chabchoub, Rania Ammar, Chokri Ben Hamida, Hedi Chelly, Ali Ayedi, Mounir Bouaziz
Journal: Intensive Care Medicine (2017)
01.05 Regulation of arthritis by type 2 innate lymphoid cells
Authors: Yasunori Omata, Sébastien Lucas, Mireia García, Stefan Wirtz, Aline Bozec, Georg Schett, Mario M Zaiss
Journal: Annals of the Rheumatic Diseases (2017)

<h3>Background</h3> Besides the many well-characterised cellular and molecular components of the innate and adaptive immune system that influence inflammatory processes, recent characterisation of innate lymphoid cells (ILC) has revealed an essential role for these populations in the initiation, regulation and resolution of inflammation. Although low in numbers, ILCs rapidly respond to cytokine and microbial signals and are potent innate cellular sources of multiple pro-inflammatory and immunoregulatory cytokines. ILC2 depends on the transcription factors GATA3 and RORa and produce the type 2 cytokines IL-4, IL-5 and IL-13 upon activation by IL-33 and IL-25. In this project we investigate specifically the role of ILC2s during inflammatory arthritis to unravel their potential therapeutic use. <h3>Materials and methods</h3> Tissue samples (spleen, blood and mesenchymal lymph nodes) from K/BxN serum transfer arthritis model (SIA), and collagen induced arthritis (CIA) model were analysed by FACS at different time points (n=5). Human peripheral blood samples were collected from patients with rheumatoid arthritis (RA, n=59) and healthy controls (n=21) and analysed by FACS. Gain (IL-25 and IL-33 minicircle based technology) and loss (RORalpha<sup>cre</sup>/GATA3<sup>flfl</sup> mice) of ILC2 number experiments during the induced arthritis were performed to unravel the role of ILC2s. <h3>Results</h3> During both, the SIA and the CIA arthritis mouse models we detected increased frequencies of ILC2s during at early time points after induction of the respective models. In line with these results we detected significantly increased ILC2s in RA patients compared to healthy controls. We could highlight the beneficial effects of ILC2s on arthritis severity because experimentally increasing ILC2 numbers attenuated inflammation, whereas genetically reducing ILC2s exacerbated clinical arthritis severities. Histomorpholocial analysis revealed less bone destruction and decreased osteoclast numbers when ILC2s were increased. Of note, we could detect ILC2 alongside to osteoclasts in the inflamed joints. <h3>Conclusions</h3> Our data suggests that ILC2 has a protective effect on arthritic joint destructions.
Social Determinants of Health in Managed Care Payment Formulas
Authors: Arlene S. Ash, Eric O. Mick, Randall P. Ellis, Catarina I. Kiefe, Jeroan J. Allison, Melissa A. Clark
Journal: JAMA Internal Medicine (2017)

Managed care payment formulas commonly allocate more money for medically complex populations, but ignore most social determinants of health (SDH).To add SDH variables to a diagnosis-based payment formula that allocates funds to managed care plans and accountable care organizations.Using data from MassHealth, the Massachusetts Medicaid and Children's Health Insurance Program, we estimated regression models predicting Medicaid spending using a diagnosis-based and SDH-expanded model, and compared the accuracy of their cost predictions overall and for vulnerable populations. MassHealth members enrolled for at least 6 months in 2013 in fee-for-service (FFS) programs (n = 357 660) or managed care organizations (MCOs) (n = 524 607).We built cost prediction models from a fee-for-service program. Predictors in the diagnosis-based model are age, sex, and diagnoses from claims. The SDH model adds predictors describing housing instability, behavioral health issues, disability, and neighborhood-level stressors.Overall model explanatory power and overpayments and underpayments for subgroups of interest for all Medicaid-reimbursable expenditures excepting long-term support services (mean annual cost = $5590 per member).We studied 357 660 people who were FFS participants and 524 607 enrolled in MCOs with a combined 806 889 person-years of experience. The FFS program experience included more men (49.6% vs 43.6%), older patients (mean age of 26.1 years vs 21.6 years), and sicker patients (mean morbidity score of 1.16 vs 0.89) than MCOs. Overall, the SDH model performed well, but only slightly better than the diagnosis-based model, explaining most of the spending variation in the managed care population (validated R2 = 62.4) and reducing underpayments for several vulnerable populations. For example, raw costs for the quintile of people living in the most stressed neighborhoods were 9.6% ($537 per member per year) higher than average. Since greater medical morbidity accounts for much of this difference, the diagnosis-based model underpredicts costs for the most stressed quintile by about 2.1% ($130 per member per year). The expanded model eliminates the neighborhood-based underpayment, as well as underpayments of 72% for clients of the Department of Mental Health (observed costs of about $30 000 per year) and of 7% for those with serious mental illness (observed costs of about $16 000 per year).Since October 2016, MassHealth has used an expanded model to allocate payments from a prespecified total budget to managed care organizations according to their enrollees' social and medical risk. Extra payments for socially vulnerable individuals could fund activities, such as housing assistance, that could improve health equity.
IMPLEMENTATION OF AN INJURY AND ILLNESS SURVEILLANCE SYSTEM IN PARALYMPIC ATHLETES (ISSPA) – A STUDY IN GERMAN PARACYCLING ATHLETES
Authors: Eva Johanna Kubosch, Katharina Fassbender, Kathrin Steffen, Nobert Südkamp, Anja Hirschmüller
Journal: British Journal of Sports Medicine (2017)

Background Despite the increasing training and competition load of disabled athletes, a standardised monitoring system of their injuries and illnesses is sparse. Objective The aim of this study was the implementation of a standardised, weekly recording of all injuries and illnesses in the cohort of the German paracycling national team. Design/Setting The athletes were monitored over a 24-week period from October 2015 till March 2016 using a validated weekly online questionnaire (Clarsen et al . 2014). All musculoskeletal complaints and illnesses, restrictions in training and therapeutic measures were documented. Participants 24 out of 26 athletes of the German paracycling national team were included in this study after informed consent. Main Outcome Measurements This longitudinal study recorded all injuries and illnesses in the German paracycling national team over a 24 week period. All medical problems (illnesses, acute and overuse injuries), limitation of performance and loss of training-days were documented. Results The average response rate was 93%. A total of 57 health problems were registered during 24 weeks, including 30 illnesses and 27 injuries. The most frequent diagnoses were injuries of the shoulder, the wrist or the knee joint, urinary tract infections in wheelchair athletes and infections of the respiratory system. Overall, 140 lost training-days because of injury (27 d) or illness (111 d) were reported. Conclusions An injury and illness surveillance system in the German paracycling national team for a continued, systematic documentation of medical problems during the non-competition period could be successfully been implemented. The athletes were very satisfied and showed a high acceptance of the project. By identifying mechanisms of injury and associated risk factors in disabled athletes, sports-specific injury and illness prevention programs can be implemented.
NEUROMUSCULAR RESPONSES OF THE HAMSTRING MUSCLES DURING UNANTICIPATED TRUNK PERTURBATIONS
Authors: Ayako Higashihara, Yasuharu Nagano, Hirofumi Ida, Kimitaka Nakazawa
Journal: British Journal of Sports Medicine (2017)

Background Anterior cruciate ligament and hamstring strain injuries occur during unanticipated cutting and stopping movements. Previous prospective studies showed that athletes with decreased trunk neuromuscular control are at increased risk of knee injury. Therefore, deficits in trunk neuromuscular control during unanticipated movements may result in injury. However, the modulations of the hamstring muscles to the unanticipated trunk perturbation are unclear. Objective To examine the neuromuscular responses of the hamstring muscles during unanticipated trunk perturbations. Design Descriptive laboratory study. Setting Male college athletes. Participants Eight male sprinters (age, 20.3±1.4 years). Intervention In the kneeling position, the participants wore a chest harness attached to a cable that was pulled backward as a resisting force at a constant level corresponding to 13% to 15% of each weight. The participants were instructed to resist the force isometrically. The force was released with cue (CUE) and without cue (NoCUE). Trunk acceleration and surface electromyography (EMG) signals of the erector spinae, gluteus maximus, biceps femoris, and semitendinosus muscles were measured. Main Outcome Measurements (1) Maximum trunk acceleration; (2) EMG activation in the 50-ms window before the perturbation; (3) onset time of the muscle response; and (4) phasic muscle activities after the perturbations. Results The maximum trunk acceleration was significantly greater during the NoCUE condition than during the CUE condition ( p &lt;0.01). No significant differences were observed in either of the EMG activations before the perturbation. The activation onsets of the hamstring muscles were significantly delayed ( p &lt;0.05) and the activation responses of these muscles from 100 ms after the perturbation were significantly larger during the NoCUE than during the CUE condition ( p &lt;0.05). Conclusions The results indicate that the anticipation of perturbation decreased the hamstring muscle latencies and responses to control the trunk movement, suggesting that the central nervous system modulated the readiness of the trunk based on anticipatory information.
Oncomine Knowledgebase Reporter: An information management system to link published evidence with cancer gene variants detected by multivariate tests.
Authors: Santhoshi Bandla, David Galimberti, Kenneth Kopp, Sarah Anstead, Christopher Zurenko, Nikki Bonevich, Dinesh Cyanam, Jane Faershtein, David Chi, Paul Choppa, Jody McIntyre, Michael Hogan, Seth Sadis
Journal: Journal of Clinical Oncology (2016)

e20667 Background: Next-generation sequencing (NGS) is an emerging technology for molecular diagnostics enabling the identification of multiple variants from a small tissue sample, thus displacing sequential single-gene tests. However, the increased scale of data generation has made analysis and interpretation of NGS data complex and often rate-limiting in the overall workflow. To address this bottleneck, we developed Oncomine Knowledgebase Reporter, a web-based application for research use that streamlines the identification of relevant published evidence associated with gene variants detected by multivariate tests. Methods: We determined that published drug labels, treatment guidelines, and clinical trial enrollment criteria were relevant source information to help cancer researchers understand what gene variants from multivariate tests may be potentially relevant. We developed systematic curation procedures using a combination of automated text search with manual verification that is repeated quarterly. The Oncomine Knowledgebase Reporter user interface allows users to upload a variant call format file (VCF) and to set content filters as appropriate. The results can be reviewed in the web application and then exported in a PDF format. As an example, we used the Oncomine Knowledgebase Reporter to identify relevant evidence for a consecutive series of over 250 FFPE lung cancer specimens analyzed at Thermo Fisher Scientific. Results: The Oncomine knowledgebase currently contains 26 approved drug labels (including FDA and EMA), 17 treatment guidelines (including NCCN, ESMO) and over 700 clinical trials with global recruiting locations across 23 different solid tumor types. Analysis of over 250 FFPE lung cancer specimens using the Oncomine Knowledgebase Reporter resulted in over 50% of samples with relevant evidence. Conclusions: The complexity of data generated by NGS has made post-sequencing data analysis a rate-limiting step in the overall sample to answer workflow. Oncomine Knowledgebase Reporter provides a convenient tool to return published evidence associated with cancer gene variants detected by multivariate NGS tests.
Recurrent Malignant Melanoma Detected on 18F-Fluciclovine PET/CT Imaging for Prostate Cancer
Authors: Eugene J. Teoh, Maria T. Tsakok, Kevin M. Bradley, Katherine Hyde, Manil Subesinghe, Fergus V. Gleeson
Journal: Clinical Nuclear Medicine (2017)

A 66-year-old man presented with biochemical recurrence of prostate cancer and underwent F-fluciclovine PET/CT to detect sites of recurrence. He had a history of resected truncal stage IIIC malignant melanoma, with bilateral axillary node involvement on sentinel node biopsy, in complete remission for 3 years. F-fluciclovine PET/CT demonstrated an incidental fluciclovine-avid right axillary node (SUVmax = 4.3). Diagnostic sampling confirmed recurrent malignant melanoma.
反応性酸素種はAgNPsによる放射線増強とオートファジー誘導における執行者として作用する【Powered by NICT】
Authors: Wu Hao, Lin Jun, Liu Peidang, Huang Zhihai, Zhao Peng, Jin Haizhen, Ma Jun, Wen Longping, Gu Ning
Journal: Biomaterials (2016)
Molecular basis for increased susceptibility of Indigenous North Americans to seropositive rheumatoid arthritis
Authors: Stephen W Scally, Soi-Cheng Law, Yi Tian Ting, Jurgen van Heemst, Jeremy Sokolove, Aaron J Deutsch, E Bridie Clemens, Antonis K Moustakas, George K Papadopoulos, Diane van der Woude, Irene Smolik, Carol A Hitchon, David B Robinson, Elizabeth D Ferucci, Charles N Bernstein, Xiaobo Meng, Vidyanand Anaparti, Tom Huizinga, Katherine Kedzierska, Hugh H Reid, Soumya Raychaudhuri, René E Toes, Jamie Rossjohn, Hani El-Gabalawy, Ranjeny Thomas
Journal: Annals of the Rheumatic Diseases (2017)

Objective The pathogenetic mechanisms by which HLA-DRB1 alleles are associated with anticitrullinated peptide antibody (ACPA)-positive rheumatoid arthritis (RA) are incompletely understood. RA high-risk HLA-DRB1 alleles are known to share a common motif, the ‘shared susceptibility epitope (SE)’. Here, the electropositive P4 pocket of HLA-DRB1 accommodates self-peptide residues containing citrulline but not arginine. HLA-DRB1 His/Phe13β stratifies with ACPA-positive RA, while His13βSer polymorphisms stratify with ACPA-negative RA and RA protection. Indigenous North American (INA) populations have high risk of early-onset ACPA-positive RA, whereby HLA-DRB1*04:04 and HLA-DRB1*14:02 are implicated as risk factors for RA in INA. However, HLA-DRB1*14:02 has a His13βSer polymorphism. Therefore, we aimed to verify this association and determine its molecular mechanism. Methods HLA genotype was compared in 344 INA patients with RA and 352 controls. Structures of HLA-DRB1*1402-class II loaded with vimentin-64Arg 59-71 , vimentin-64Cit 59-71 and fibrinogen β−74Cit 69-81 were solved using X-ray crystallography. Vimentin-64Cit 59-71 -specific and vimentin 59-71 -specific CD4+ T cells were characterised by flow cytometry using peptide-histocompatibility leukocyte antigen (pHLA) tetramers. After sorting of antigen-specific T cells, TCRα and β-chains were analysed using multiplex, nested PCR and sequencing. Results ACPA + RA in INA was independently associated with HLA-DRB1*14:02 . Consequent to the His13βSer polymorphism and altered P4 pocket of HLA-DRB1*14:02, both citrulline and arginine were accommodated in opposite orientations. Oligoclonal autoreactive CD4+ effector T cells reactive with both citrulline and arginine forms of vimentin 59-71 were observed in patients with HLA-DRB1*14:02 + RA and at-risk ACPA - first-degree relatives. HLA-DRB1*14:02-vimentin 59-71 -specific and HLA-DRB1*14:02-vimentin-64Cit 59-71 -specific CD4+ memory T cells were phenotypically distinct populations. Conclusion HLA-DRB1*14:02 broadens the capacity for citrullinated and native self-peptide presentation and T cell expansion, increasing risk of ACPA+ RA.