tbuckley/cabot-search huggingface dataset:
Synthesis and concentration of 5-phosphoribosyl-1-pyrophosphate in erythrocytes from patients with Down's syndrome.
Authors: Y Nishida, I Akaoka, T Nishizawa, M Maruki, K Maruki
Journal: Annals of the Rheumatic Diseases (1977)

Plasma urate levels and erythrocyte glucose-6-phosphate dehydrogenase activity were not significantly different in patients with Down's syndrome when compared with control subjects with mental retardation.No significant difference was found in 5-phosphoribosyl-l-pyrophosphate (PRPP) concentration and synthesis of PRPP in erythrocytes from glucose between subjects with Down's syndrome and controls.The purine metabolism of Down's syndrome is discussed.
MDM2 as a Modifier Gene in Retinoblastoma
Authors: Laurent Castéra, Audrey Sabbagh, Catherine Dehainault, Dorothée Michaux, Audrey Mansuet-Lupo, Blandine Patillon, Estelle Lamar, Isabelle Aerts, Livia Lumbroso-Le Rouic, Jérôme Couturier, Dominique Stoppa-Lyonnet, Marion Gauthier-Villars, Claude Houdayer
Journal: JNCI Journal of the National Cancer Institute (2010)

Variability in the age of onset and number of tumors is occasionally described among retinoblastoma patients, and possible genetic modifiers might lie in the pRB or p53 pathways, both of which are involved in the development of retinoblastoma. MDM2, which increases p53 and pRB catabolism, is therefore a prominent candidate. The minor allele of MDM2 that includes a 309T>G transversion (single-nucleotide polymorphism rs2279744) in the MDM2 promoter is known to enhance MDM2 expression. Its genetic transmission was studied in 326 individuals including 212 RB1 mutation carriers in 70 retinoblastoma families, and the marker genotype was tested for association with age at diagnosis and disease phenotype. In family-based association analyses, the MDM2 309G allele was found to be statistically significantly associated with incidence of bilateral or unilateral retinoblastoma among members of retinoblastoma families (Z = 3.305, two-sided exact P = .001) under a recessive model (ie, affected patients tend to be homozygous for the G allele); in transmission disequilibrium analyses using the recessive model, the association was also observed (estimated odds ratio = 4.0, 95% confidence interval = 1.3 to 12.0). The strong association of this genotype with retinoblastoma development designates MDM2 as the first modifier gene to be identified among retinoblastoma patients and suggests that enhancement of pRB haploinsufficiency and/or resistance to p53-mediated apoptosis is critical to tumor formation.
Relief of Symptoms After Gefitinib Is Associated With Improvement of Rest/Activity Rhythm in Advanced Lung Cancer
Authors: Ida Iurisci, Tyvin Rich, Francis Lévi, Pasquale F. Innominato, Nicola Tinari, Luciana Irtelli, Michele De Tursi, Antonino Grassadonia, Stefano Iacobelli
Journal: Journal of Clinical Oncology (2007)
Right ventricular diastolic dysfunction in patients with anticardiolipin antibodies and antiphospholipid syndrome
Authors: M G Tektonidou
Journal: Annals of the Rheumatic Diseases (2001)

To evaluate the prevalence of diastolic dysfunction in patients with anticardiolipin antibodies (aCL) and to examine whether the antiphospholipid syndrome (APS) is associated with diastolic dysfunction independently of valvular abnormalities and systolic dysfunction.Pulsed, continuous, colour Doppler echocardiography was performed in 179 subjects, of whom 15 were excluded from the analysis because of systolic dysfunction or severe valvular disease. The remaining 164 subjects included 29 patients with primary APS, 26 patients with secondary APS (APS in the presence of systemic lupus erythematosus (SLE)), and 30 patients with SLE and aCL but without APS; 43 patients with SLE without aCL and 36 normal volunteers served as control groups.The groups compared differed significantly in all measures of right ventricular function. There was a gradation of increasing diastolic function impairment as manifested by prolonged deceleration time (DT) and isovolumic relaxation time (IVRT) across the groups of patients with SLE without aCL, SLE with aCL, secondary APS, and primary APS. Differences in left ventricular diastolic function measures were less prominent. In regression analysis, DT increased by 19.6 ms (p=0.002) in the presence of primary APS and by 20.1 ms (p=0.038) in the presence of pulmonary hypertension. The titre of IgG aCL was the strongest predictor of a prolonged IVRT.Diastolic dysfunction, in particular of the right ventricle-that is, independent of valvular disease and systolic dysfunction, is a prominent feature of APS and may be related to the pathogenesis of the syndrome.
Rates and predictors of radiographic sacroiliitis progression over 2 years in patients with axial spondyloarthritis
Authors: D. Poddubnyy, M. Rudwaleit, H. Haibel, J. Listing, E. Marker-Hermann, H. Zeidler, J. Braun, J. Sieper
Journal: Annals of the Rheumatic Diseases (2011)

<h3>Objective</h3> To assess the progression of radiographic sacroiliitis in a cohort of patients with early axial spondyloarthritis over a period of 2 years and to explore predictors of progression. <h3>Methods</h3> 210 patients with axial spondyloarthritis from the German Spondyloarthritis Inception Cohort have been selected for this analysis based on availability of radiographs at baseline and after 2 years of follow-up. Radiographs were centrally digitised and the sacroiliac joints were scored independently according to the grading system of the modified New York criteria for ankylosing spondylitis (AS) by two trained readers. The readers scored both time points simultaneously but were blinded for the time point and for all clinical data. <h3>Results</h3> 115 patients (54.8%) fulfilled the modified New York criteria for AS in their radiographic part in the opinion of both readers at baseline, while 95 patients (45.2%) were classified as non-radiographic axial spondyloarthritis. More patients with non-radiographic spondyloarthritis (10.5%) compared with AS (4.4%) showed an estimated 'true' progression by at least one grade according to both readers, although the difference between the two groups was statistically non-significant. The rate of progression from non-radiographic axial spondyloarthritis to AS was 11.6% over 2 years. An elevated level of C-reactive protein (CRP) at baseline was a strong positive predictor of radiographic sacroiliitis progression in non-radiographic axial spondyloarthritis and AS (OR 3.65 and 5.08, respectively, p&lt;0.05). <h3>Conclusion</h3> Progression of radiographic sacroiliitis by at least one grade after 2 years occurs only in a small percentage of patients with early axial spondyloarthritis. An elevated level of CRP was found to be a strong positive predictor of sacroiliitis progression.
P49 Seasonal effect upon attendance at a pulmonary rehabilitation programme
Authors: G. Walker, C. Lee, S. Elkin
Journal: Thorax (2010)

<h3>Introduction</h3> Pulmonary rehabilitation (PR) programmes have been shown to reduce symptoms and improve exercise tolerance in COPD. Improving rates of attendance at PR sessions is vital to ensuring a cost-effective service. The role of seasonality in attendance at PR programmes has not previously been evaluated. <h3>Methods</h3> Attendance rates, between 2007 and 2010, at a PR programme in one London borough were reviewed. The number of patients attending assessment and subsequent bi weekly PR sessions was examined and demographic information collected. The data were divided by season – winter months incorporating October to March and summer months, April to September. The null hypothesis that there would be no difference between attendance rates in summer months compared to winter months was tested using a Mann–Whitney U test. The attendance data were correlated, using Pearson′s product-moment correlation coefficient, with local monthly weather data, obtained from the Met Office, for temperature, hours of sunshine and rainfall over the time period. <h3>Results</h3> In total 506 assessment appointments were made to achieve 258 attendances, an attendance rate of 51%. For assessments, there was no difference in attendance between the winter and summer months (50 and 51% respectively). For the group PR sessions, 2325 appointments were made to achieve 1613 attendances (69%). The overall attendance rate at group sessions during winter was 64% compared to 74% during summer. Non-parametric testing of the data revealed the seasonal difference to be statistically significant (p&lt;0.05). Attendance rates show weak, positive correlation with maximum and minimum temperatures (r =+0.51, +0.44 respectively) and sunlight hours (r =+0.55), and weak negative correlation with amount of rainfall (r =−0.33). <h3>Conclusion</h3> Attendance rates were significantly worse during winter compared to summer. This needs to be taken into account when planning PR services and in local efforts to maximise patient participation. The weak correlation between attendance and specific weather indicators suggests that weather conditions may contribute to this pattern. Confounding patient factors such as illness exacerbation and environmental issues such as transport need to be further evaluated in the context of seasonality to better understand this relationship.
The drug transporter P-glycoprotein limits oral absorption and brain entry of HIV-1 protease inhibitors.
Authors: R B Kim, M F Fromm, C Wandel, B Leake, A J Wood, D M Roden, G R Wilkinson
Journal: Journal of Clinical Investigation (1998)

Currently available HIV-1 protease inhibitors are potent agents in the therapy of HIV-1 infection. However, limited oral absorption and variable tissue distribution, both of which are largely unexplained, complicate their use. We tested the hypothesis that P-glycoprotein is an important transporter for these agents. We studied the vectorial transport characteristics of indinavir, nelfinavir, and saquinavir in vitro using the model P-glycoprotein expressing cell lines L-MDR1 and Caco-2 cells, and in vivo after intravenous and oral administration of these agents to mice with a disrupted mdr1a gene. All three compounds were found to be transported by P-glycoprotein in vitro. After oral administration, plasma concentrations were elevated 2-5-fold in mdr1a (-/-) mice and with intravenous administration, brain concentrations were elevated 7-36-fold. These data demonstrate that P-glycoprotein limits the oral bioavailability and penetration of these agents into the brain. This raises the possibility that higher HIV-1 protease inhibitor concentrations may be obtained by targeted pharmacologic inhibition of P-glycoprotein transport activity.
Pegfilgrastim versus filgrastim after high-dose chemotherapy and autologous peripheral blood stem cell support
Authors: L. Castagna, S. Bramanti, A. Levis, M.G. Michieli, A. Anastasia, R. Mazza, L. Giordano, B. Sarina, E. Todisco, A.I. Gregorini, A. Santoro
Journal: Annals of Oncology (2009)
The neuron-specific chromatin regulatory subunit BAF53b is necessary for synaptic plasticity and memory
Authors: Annie Vogel-Ciernia, Dina P Matheos, Ruth M Barrett, Enikö A Kramár, Soraya Azzawi, Yuncai Chen, Christophe N Magnan, Michael Zeller, Angelina Sylvain, Jakob Haettig, Yousheng Jia, Anthony Tran, Richard Dang, Rebecca J Post, Meredith Chabrier, Alex H Babayan, Jiang I Wu, Gerald R Crabtree, Pierre Baldi, Tallie Z Baram, Gary Lynch, Marcelo A Wood
Journal: Nature Neuroscience (2013)
Impact of inherited epidermolysis bullosa on parental interpersonal relationships, marital status and family size
Authors: J-D. Fine, L.B. Johnson, M. Weiner, C. Suchindran
Journal: British Journal of Dermatology (2005)

Journal Article Impact of inherited epidermolysis bullosa on parental interpersonal relationships, marital status and family size Get access J‐D. Fine, J‐D. Fine *The National Epidermolysis Bullosa Registry, Nashville, TN, U.S.A. †Departments of Medicine (Dermatology) and Pediatrics, Vanderbilt University School of Medicine, TN, U.S.A. Departments of ‡Epidemiology, ¶Public Health Nursing and **Biostatistics, School of Public Health, University of North Carolina at Chapel Hill, Chapel Hill, NC, U.S.A Jo‐David Fine. E‐mail: Jo‐DavidFine@vanderbilt.edu Search for other works by this author on: Oxford Academic Google Scholar L.B. Johnson, L.B. Johnson *The National Epidermolysis Bullosa Registry, Nashville, TN, U.S.A. †Departments of Medicine (Dermatology) and Pediatrics, Vanderbilt University School of Medicine, TN, U.S.A. Departments of ‡Epidemiology, ¶Public Health Nursing and **Biostatistics, School of Public Health, University of North Carolina at Chapel Hill, Chapel Hill, NC, U.S.A Search for other works by this author on: Oxford Academic Google Scholar M. Weiner, M. Weiner *The National Epidermolysis Bullosa Registry, Nashville, TN, U.S.A. †Departments of Medicine (Dermatology) and Pediatrics, Vanderbilt University School of Medicine, TN, U.S.A. Departments of ‡Epidemiology, ¶Public Health Nursing and **Biostatistics, School of Public Health, University of North Carolina at Chapel Hill, Chapel Hill, NC, U.S.A Search for other works by this author on: Oxford Academic Google Scholar C. Suchindran C. Suchindran *The National Epidermolysis Bullosa Registry, Nashville, TN, U.S.A. †Departments of Medicine (Dermatology) and Pediatrics, Vanderbilt University School of Medicine, TN, U.S.A. Departments of ‡Epidemiology, ¶Public Health Nursing and **Biostatistics, School of Public Health, University of North Carolina at Chapel Hill, Chapel Hill, NC, U.S.A Search for other works by this author on: Oxford Academic Google Scholar British Journal of Dermatology, Volume 152, Issue 5, 1 May 2005, Pages 1009–1014, https://doi.org/10.1111/j.1365-2133.2004.06339.x Published: 01 May 2005 Article history Accepted: 04 July 2004 Published: 01 May 2005
Body Metabolism Provides a Foundation for Noninvasive Blood Glucose Monitoring
Authors: Jae B. Ko, Ok K. Cho, Yoon O. Kim, Kazuo Yasuda
Journal: Diabetes Care (2004)

The metabolic oxidation of glucose in the human body, also known as cellular respiration, provides most of the energy necessary for cellular activities. Several authors (1–4) have suggested that the relationship between blood glucose concentration and physiological parameters relates to metabolism. Until now, this phenomenon has not been utilized to calculate blood glucose concentration (5–7). Here we describe the noninvasive measurements of glucose concentration in the blood by taking into account the body heat generated by glucose oxidation and local oxygen supply. We arrived at this concept from observing that the circadian rhythm of the human body conforms to the subtle balance seen among metabolic heat, local oxygen supply, and glucose concentration. We have developed a system that integrates both thermal and spectroscopic sensors, which simultaneously measures these related parameters and subsequently physicochemically derives the concentration of blood glucose. Our discovery shows that blood glucose concentration can be accurately and reliably measured by this novel, noninvasive technique.

Our concept is …
Correlation of plasma serotonin changes with platelet aggregation in an in vivo dog model of spontaneous occlusive coronary thrombus formation.
Authors: C R Benedict, B Mathew, K A Rex, J Cartwright, L A Sordahl
Journal: Circulation Research (1986)

The role of platelets in contributing to occlusive coronary artery thrombus formation remains unresolved. A large number of studies have utilized in vitro techniques to study platelet aggregation. This report describes a model of spontaneous in vivo thrombus formation which involves application of current in the left circumflex coronary artery of the dog. Changes in mean coronary blood flow velocity (50% above control) are used to predict the point at which current can be discontinued without interrupting the ongoing process of thrombus formation. Thrombus formation proceeds to total vessel occlusion within 62 +/- 18 minutes after discontinuation of current. Coronary sinus plasma serotonin concentrations are used as an in vivo index of platelet aggregation during thrombus formation. Plasma serotonin levels increased only slightly above baseline levels during initial thrombus formation. Coronary sinus serotonin levels rose markedly after cessation of current, reaching a peak just prior to total vessel occlusion. The marked increase in serotonin concentration observed in the latter stages of thrombus formation strongly suggests that platelet aggregation is a significant factor in the evolution of an occlusive coronary thrombus.
Smoking Induces Glomerulosclerosis in Aging Estrogen-Deficient Mice through Cross-Talk between TGF-β1 and IGF-I Signaling Pathways
Authors: Sharon J. Elliot, Michael Karl, Mariana Berho, Xiaomei Xia, Simone Pereria-Simon, Diego Espinosa-Heidmann, Gary E. Striker
Journal: Journal of the American Society of Nephrology (2006)

Smoking is a known risk factor for the progression of chronic kidney diseases. However, its independent contribution to the development of ESRD and the underlying molecular mechanism have not been well elucidated. Although the risk for ESRD is higher in postmenopausal women according to the US Renal Data System, the number of women who smoke is on the rise worldwide. Therefore, the effects of smoking and estrogen status on glomerular function and structure were studied in female B6 mice that were ovariectomized at 3 (young) and 15 mo (aged) of age. The mice received either 17beta-estradiol (E(2)) replacement or placebo (Pla) and were divided further into groups that were exposed to cigarette smoke (S) and not exposed (NS). Six months of exposure to smoke had no effect on young mice, although aging S/Pla mice exhibited a phenotype of increased albumin excretion associated with a moderately increased glomerular collagen type IV deposition compared with NS/Pla mice. S/Pla mice also had a two-fold increase in glomerular TGF-beta, Smad3, and IGF-I receptor mRNA expression compared with the NS group. Mesangial cells that were isolated from S/Pla mice had an increase of IGF-I receptor protein, and IGF-I stimulated a TGF-beta reporter construct promoter three-fold. This was blocked by pretreatment with a neutralizing antibody to IGF-I, LY294002 (phosphatidylinositol-3 kinase inhibitor) or a dominant negative Smad construct. In addition, Smad3 activation was stimulated by IGF-I and blocked by LY294002, suggesting cross-talk between Smad and the phosphatidylinositol-3 kinase/AKT pathways. The smoking phenotype was reversed by E(2) replacement. In conclusion, smoking induces a phenotype in E(2)-deficient mice that is characterized by activation and cross-talk between the TGF-beta1 and IGF-I signaling pathways.
Cardiovascular Status of Childhood Cancer Survivors Exposed and Unexposed to Cardiotoxic Therapy
Authors: Steven E. Lipshultz, David C. Landy, Gabriela Lopez-Mitnik, Stuart R. Lipsitz, Andrea S. Hinkle, Louis S. Constine, Carol A. French, Amy M. Rovitelli, Cindy Proukou, M. Jacob Adams, Tracie L. Miller
Journal: Journal of Clinical Oncology (2012)

To determine whether cardiovascular abnormalities in childhood cancer survivors are restricted to patients exposed to cardiotoxic anthracyclines and cardiac irradiation and how risk factors for atherosclerotic disease and systemic inflammation contribute to global cardiovascular status.We assessed echocardiographic characteristics and atherosclerotic disease risk in 201 survivors of childhood cancer with and without exposure to cardiotoxic treatments at a median of 11 years after diagnosis (range, 3 to 32 years) and in 76 sibling controls.The 156 exposed survivors had below normal left ventricular (LV) mass, wall thickness, contractility, and fractional shortening and above normal LV afterload. The 45 unexposed survivors also had below normal LV mass overall, and females had below normal LV wall thickness. Exposed and unexposed survivors, compared with siblings, had higher levels of N-terminal pro-brain natriuretic peptide (81.7 and 69.0 pg/mL, respectively, v 39.4 pg/mL), higher mean fasting serum levels of non-high-density lipoprotein cholesterol (126.5 and 121.1 mg/dL, respectively, v 109.8 mg/dL), higher insulin levels (10.4 and 10.5 μU/mL, respectively, v 8.2 μU/mL), and higher levels of high-sensitivity C-reactive protein (2.7 and 3.1 mg/L, respectively, v 0.9 mg/L; P < .001 for all comparisons). Age-adjusted, predicted-to-ideal 30-year risk of myocardial infarction, stroke, or coronary death was also higher for exposed and unexposed survivors compared with siblings (2.16 and 2.12, respectively, v 1.70; P < .01 for both comparisons).Childhood cancer survivors not receiving cardiotoxic treatments nevertheless have cardiovascular abnormalities, systemic inflammation, and an increased risk of atherosclerotic disease. Survivorship guidelines should address cardiovascular concerns, including the risk of atherosclerotic disease and systemic inflammation, in exposed and unexposed survivors.
Failure of Expression of Class I Major Histocompatibility Antigens To Alter Tumor Immunogenicity of a Spontaneous Murine Carcinoma
Authors: D. A. Carlow, R. S. Kerbel, B. E. Elliott
Journal: JNCI Journal of the National Cancer Institute (1989)

We have shown previously that clonal immunogenic variants of murine mammary adenocarcinoma 10.1 can be isolated after treatment in vitro with the DNA-hypometrhylating agent 5-azacytidine (5-aza). Such immunogenic variants frequently express elevated class I major histocompatibility complex antigens relative to the level of expression in the parent tumor and are rejected in syngeneic mice by a T-cell-dependent proces. To ascertain whether elevated immunogenicity is a function of increased class I antigen expression, we isolated high class I antigen expressors from 5-aza-treated 10.1 cells by using the fluorescence-activated cell sorter. Clonal variants displaying any increase in class I antigen expression were more efficient stimulators of allo-class I antigen-specific cytolytic T-cell precursors. However, these variants displayed unaltered tumorigenicity in immunocompetent syngeneic mice. Thus, phenotypic changes other than, or in addition to, elevated class I antigen expression cause the reduced tumorigenicity of immunogenic clones of 10.1 cells isolated after 5-aza treatment.
Clonality among ampicillin-resistant Enterococcus faecium isolates in Sweden and relationship with ciprofloxacin resistance
Authors: E. Torell, J. Kühn, B. Olsson-Liljeauist, S. Hæggman, B.-M. Hoffman, C. Lindahl, L.G. Burman
Journal: Clinical Microbiology and Infection (2003)