tbuckley/cabot-search huggingface dataset:
Neonatal Hair Analysis as a Biomarker for in Utero Alcohol Exposure
Authors: Julia Klein, Daphne Chan, Gideon Koren
Journal: New England Journal of Medicine (2002)

To the Editor: Alcohol is the most prevalent human teratogen. Fetal alcohol spectrum disorder is estimated to affect up to 1 percent of infants born in North America. The ascertainment of gestational exposure to alcohol is paramount for the diagnosis of the disorder. It is widely recognized that maternal reporting results in underestimates of the prevalence and amount of exposure to alcohol. Until recently, there have been no objective biologic markers for the detection of long-term in utero exposure to alcohol. Studies in adults have documented that circulating ethanol is transesterified with fatty acids to fatty acid ethyl esters.1 On . . .
AB0457 Clinical features of behçet’s disease in tunisian people
Authors: I. Cherif, H. Sahli, R. Tekaya, L. dridi, O. Saidane, I. mahmoud, L. abdelmoula, R. Zouari
Journal: Annals of the Rheumatic Diseases (2013)

<h3>Background</h3> Behçet's disease is an inflammatory disorder of unknown aetiology, characterized by recurrent painful oral ulcer and genital ulcer, skin diseases and uveitis. It may involve cardiovascular, gastrointestinal and central nervous system, as well as joints <h3>Objectives</h3> To define the epidemiology and clinical features of Behçet's disease, giving special attention to the rheumatic manifestations. <h3>Methods</h3> We retrospectively reviewed the medical records of the patients who met the International Study group criteria of Behçet disease and were treated during the last ten years [2002-2012]. <h3>Results</h3> Twenty three patients were treated. The mean age at the diagnosis was 41 years (range 20 to 58 years) with a female to male ratio of 1.5. Mean disease duration was about 4,4 years (range 6 to 14 years). Joint manifestations were present in 22 cases and were inaugural in 18 cases. Patients presented with inflammatory arthralgia (14 cases) and arthritis (8 cases). It was a monoarthritis in 4 cases, oligoarthritis in 3 cases and polyarthritis in one case. The knee and ankles were the joint most commonly affected. Oral Ulcers and genital ulcers were noted in all cases. Skin lesions were seen in 5 cases: including erythema nodosum-like eruption (2 cases) and pseudofoliculitis (3 cases). Ocular involvement was observed in 11 cases: anterior uveitis, posterior uveitis and retinal vasculitis. Deep venous thrombosis was noted in 3 cases and neurological involvement such (convulsion and cognitive impairement) in 2 cases. Biologic inflammatory syndrome was observed in 16 cases. HLA B51 was positive in 4 cases among the 7 tested. <h3>Conclusions</h3> This series confirms the heterogeneity of the Behçet disease in Mediterranean countries. Uveitis and joint manifestations were frequent and inaugural in most cases <h3>Disclosure of Interest</h3> None Declared
Adrenocortical Tumor in an Adult Detected by Ga-67 Scintigraphy
Authors: Tiberiu Hershcovici, Meora Feinmesser, Adam P Steinmetz, Ruth Hardoff
Journal: Clinical Nuclear Medicine (2002)

HERSHCOVICI, TIBERIU M.D.,*; FEINMESSER, MEORA M.D.,†; STEINMETZ, ADAM P. M.D.‡; HARDOFF, RUTH M.D., D.Sc.‡ Author Information
Diagnosis of an Air Leak by Radionuclide Scan
Authors: Naomi Unterreiner, Paul E. Weiss
Journal: Clinical Nuclear Medicine (2001)

From the Department of Radiology, Rochester General Hospital, Rochester, New York Received for publication February 28, 2001. Accepted May 16, 2001. Reprint requests: Naomi Unterreiner, Department of Radiology, Rochester General Hospital, 1425 Portland Avenue, Rochester, New York 14621. E-mail: [email protected]
Abstract 358: Neonatal Mouse Heart Maturation: Transcriptome-Wide Analysis Reveals Chamber-Specific Exon Enrichment of Cell Cycle Genes
Authors: Marlin Touma, Xuedong Kang, Jae-Hyung Lee, Xinshu Xiao, Yibin Wang
Journal: Circulation Research (2014)

Background: During postnatal maturation of mammalian heart the neonatal cardiomyocytes undergo dramatic changes including complete maturation, proliferation arrest, and terminal exit from the cell cycle (CC). However, transcriptome-wide analysis of CC programs has not been performed in perinatal stages among different cardiac chambers. In particular, the contribution of alternative RNA splicing to the chamber-specific CC activities is unexplored Design/Methods: To achieve comprehensive analysis of differential expression (DE) and alternative splicing (AS) of CC-related genes in left ventricle (LV) versus right ventricle (RV) during maturation deep RNA-seq was performed on male newborn mouse LV and RV at 3 time points of perinatal transition: P0, P3 and P7. Reads were mapped to mouse Transcriptome, and to mouse Genome. Transcriptome-Wide difference in inclusion of individual exons was performed using MATS. DE genes and AS variants were defined as those with fold change ≥2, at expression level ≥3 RBKM and a false discovery rate ≤0.05. Significant gene ontology (GO) terms were determined at P-value ≤0.05. Levels of expression were validated using qRT-PCR Results: Altogether, 2116 DE genes and 1162 AS events were observed. Among them, 109 CC-related genes were further analyzed. Distinct temporal patterns of DE and GO enrichment of CC genes in LV vs. RV during maturation were identified. Chamber -specific induction of genes involved in mitosis, karyokinesis, and cytokinesis was found at P7. RNA Splicing analysis of CC genes revealed 77 AS events. Skipping exon accounted for nearly half splicing events. Among 30 spliced exon variants, significant chamber-and temporal-specific inclusion were observed. Interestingly, the majority of AS variants exhibited opposing patterns of exon usage in RV vs. LV at p7 Conclusions: Our findings suggest novel molecular basis for chamber-specific programming of cellular proliferation and maturation in neonatal heart, including potential splicing regulation of dynamic exon enrichment of cell cycle related genes. Further functional studies to decipher putative splicing regulators of CC programming in LV vs. RV during maturation will likely lead to novel chamber-specific regenerative and therapeutic targets.
Progress in Psychiatry
Authors: Robert Michels, Peter M. Marzuk
Journal: New England Journal of Medicine (1993)

The field of psychiatry has undergone a profound transformation in recent years. The focus of research has shifted from the mind to the brain, one of the most exciting frontiers in biology. At the same time, the profession has shifted from a model of psychiatric disorders based on maladaptive psychological processes to one based on medical diseases. Research strategies have evolved from unitary methods, such as correlations of particular psychiatric disorders with peripheral measures of neurotransmitters, to integrative studies that consider molecular, cellular, neural, and behavioral variables. This new medical approach to psychiatry has led to the vigorous pursuit of . . .
THU0010 A Weighted Genetic Risk Score Using 46 Loci to Predict Rheumatoid Arthritis Risk
Authors: A. Yarwood, M. Lunt, B. Han, S. Raychaudhuri, J. Bowes, A. Barton, S. Eyre
Journal: Annals of the Rheumatic Diseases (2013)

<h3>Background</h3> Recent advances in the identification of loci associated with susceptibility to complex disease have led to methods being developed that incorporate this information into genetic screening models to identify individuals at high risk of disease. <h3>Objectives</h3> Here we present the first risk prediction model including all 46 known genetic loci associated with rheumatoid arthritis (RA) in Caucasian populations. <h3>Methods</h3> Weighted genetic risk scores (wGRS) were created using odds ratios from 45 RA susceptibility SNPs [1] and a HLA-DRB1 tag SNP or imputed HLA-DRB1 alleles. The wGRS were tested in 11,370 RA cases and 15,536 healthy controls of known genotype. The risk of developing RA was assessed using logistic regression by dividing the wGRS into 5 quintiles. The ability of the wGRS to discriminate between cases and controls was assessed by receiver operator curve (ROC) analysis in all patients and patients with anti-CCP positive disease. <h3>Results</h3> HLA-DRB1 imputation accuracy was assessed by checking concordance with ~1800 HLA-DRB1 typed samples: 2 digit (97%), 4 digit (91%). Using a model containing all 45 loci and imputed 4 digit HLA-DRB1 genotypes the odds of developing RA for those in the highest risk quintile compared to all others was 10.01 (95% CI 9.16-10.94) and this was further increased in anti-CCP positive individuals (OR 26.23 95% CI 22.88-30.08). The area under the ROC (AUC) showed that the ability of the model to discriminate correctly between individuals at risk and those not at risk was 0.72, improving in anti CCP positive individuals (AUC 0.78). Net reclassification tests showed that including 4 digit HLA-DRB1 alleles produced an overall reclassification improvement of 49% over a HLA-DRB1 tag SNP between models. The wGRS model had a Sensitivity of 44% and specificity of 90% in CCP positive individuals, which resulted in an accuracy of 76%. <h3>Conclusions</h3> Our study has shown the increased accuracy when using 4-digit HLA-DRB1 alleles in risk prediction models. We have shown that in RA the prediction performance remains modest when including all known genetic variants and it is too soon for these tests to be implemented in clinic or to have great utility in population screening. <h3>References</h3> Eyre S, Bowes J, Diogo D, Lee A, Barton A, Martin P, Zhernakova A, Stahl E, Viatte S, McAllister K et al.: High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. <i>Nat Genet</i> 2012, 44:1336-1340. <h3>Acknowledgements</h3> This work was supported by the IMI JU funded project BeTheCure, contract no 115142-2. <h3>Disclosure of Interest</h3> None Declared
Small-Airways Dysfunction in Nonsmokers Chronically Exposed to Tobacco Smoke
Authors: James R. White, Herman F. Froeb
Journal: New England Journal of Medicine (1980)

We evaluated the effect of long-term passive smoking (involuntary inhalation of tobacco smoke by nonsmokers) and long-term voluntary smoking on specific indexes of pulmonary function in 2100 middle-aged subjects. Regardless of sex, nonsmokers chronically exposed to tobacco smoke had a lower forced mid-expiratory flow rate (FEF 25 to 75 per cent) and forced end-expiratory flow rate (FEF 75 to 85 per cent) than nonsmokers not exposed (P<0.005). In addition, values in passive smokers were not significantly different from those in light smokers and smokers who did not inhale (P<0.005). When we looked at the extent to which smoke exposure is related to graded abnormality, we found that nonsmokers in smoke-free working environments have the highest scores on the spiro-metric tests; passive smokers, smokers who do not inhale, and light smokers score similarly and significantly lower; and heavy smokers score the lowest (P<0.005). We conclude that chronic exposure to tobacco smoke in the work environment is deleterious to the nonsmoker and significantly reduces small-airways function. (N Engl J Med. 1980; 302: 720–3.)
Bone Scan in Ossifying Fibromyxoid Tumor of Soft Parts
Authors: JOHANN RAITH, GERHARD RANNER, GOTTFRIED SCHAFFLER, REINHARD GRÖLL, &NA; LINDBICHLER, KARL FRITZ, WOLFGANG WEYBORA
Journal: Clinical Nuclear Medicine (1998)

A 32-year-old man presented with a firm, nonmobile, slightly tender mass (5 cm in size) in the left posterior chest wall that had been slowly increasing in size over the past 5 years. After radiographic, CT, and scintigraphic evaluation, the tumor was resected and initially was histologically misinterpreted as a "mesenchymal hamartoma", a benign lesion not requiring further management. After one year, the tumor recurred locally and a repeat histologic examination proved it to be an ossifying fibromyxoid tumor of soft parts, a recently defined rare, potentially malignant neoplasm with histologically unique features showing areas of mature bone formation within a soft tissue mass.
The Guillain–Barré Syndrome
Authors: A H Ropper
Journal: New England Journal of Medicine (1992)

WITH the virtual elimination of poliomyelitis, Guillain—Barré syndrome has become the most common cause of acute generalized paralysis, with an annual incidence of 0.75 to 2 cases per 100,000 population. Several clinical variants of this demyelinating polyneuropathy have been described, the electrophysiologic aspects better understood, and the immunologic basis clarified, but the diagnosis is still made by clinical acumen and experience. The eponym derives from the description in 1916 by G. Guillain and J.A. Barré, then French army neurologists, and A. Strohl, who performed the electrophysiologic recordings1; it remains useful because of uncertainty about the cause and pathogenesis of . . .
Antecedents of Cerebral Palsy
Authors: Karin B. Nelson, Jonas H. Ellenberg
Journal: New England Journal of Medicine (1986)

We examined prenatal and perinatal factors predicting cerebral palsy, using multivariate analysis to investigate which factors were most important and the proportion of cases for which they accounted. Maternal mental retardation, birth weight below 2001 g, and fetal malformation were among the leading predictors. Breech presentation was also a predictor, but breech delivery was not. A third of the children with cerebral palsy who had breech presentations had a major noncerebral malformation. Among 189 children with cerebral palsy, 40 (21 percent) had at least one of three clinical markers suggestive of asphyxia; only 17 of these 40 children (9 percent of all cases) lacked major congenital malformation or other intrinsic defects that might have contributed to an unfavorable outcome. When all the principal risk factors present by the time labor began were considered, the 5 percent of the population at highest estimated risk was seen to have contributed 34 percent of the cases. When all the risk factors present during the period beginning before pregnancy and extending through the nursery stay were included, the 5 percent at highest risk was seen to have contributed 37 percent of the cases. Thus, the inclusion of information about the events of birth and the neonatal period accounted for a proportion of cerebral palsy only slightly higher than that accounted for when consideration was limited to characteristics identified before labor began.
1089 COMBINATION OF FLUVASTATIN WITH PEGYLATED INTERFERON/RIBAVIRIN THERAPY REDUCES THE VIRAL RELAPSE RATE IN CHRONIC HEPATITIS C INFECTED WITH HCV GENOTYPE1B
Authors: M. Atsukawa, A. Tsubota, C. Kondo, N. Itokawa, S. Hashimoto, T. Fukuda, Y. Matsushita, H. Kidokoro, T. Kobayashi, Y. Narahara, K. Nakatsuka, H. Kanazawa, C. Sakamoto
Journal: Journal of Hepatology (2012)
Abstract 1693: Assessment of Nrf2 luciferase reporter assay and heme oxygenase expression as models of oxidative stress in <i>in vitro</i> cultures of lung cells exposed to cigarette smoke condensate
Authors: Wanda R. Fields, Wolfgang Liedtke, Jinju Li, Betsy Bombick
Journal: Cancer Research (2010)

Abstract The Nrf2 signaling pathway is an important regulator associated with oxidative stress, xenobiotic metabolism, DNA damage and anti-inflammatory response. A key responsive gene in the Nrf2 regulatory pathway is heme oxygense 1 (HO-1), a cytoprotective enzyme that serves in an antioxidant capacity. An imbalance in antioxidant capacity observed in animal models or individuals with specific Nrf2 and HO-1 polymorphisms has been associated with susceptibility to lung diseases. The objective of this study was to characterize the response of Nrf 2 promoter regulation and HO-1 expression following exposure to cigarette smoke in lung models for oxidative stress. Cigarette smoke condensate (CSC) was prepared from Kentucky 3R4F (K3R4F) reference cigarettes. Nrf2 promoter regulation and HO-1 expression were evaluated in lung cells exposed to K3R4F CSC (0 − 90μg total particulate matter/ml media). Nrf2 promoter regulation was evaluated in transiently-transfected Nrf2 luciferase reporter cells exposed to K3R4F CSC for 0.5, 1, 2, 6 or 24 hours followed by quantification of luciferase activity. HO-1 expression was assessed following exposure to the K3R4F CSC in normal human bronchial epithelial (NHBE) cells for 3, 6 or 24 hours using real-time quantitative RT/PCR and enzyme linked immunoassay (ELISA). Nrf2 reporter cells exhibited dose-dependent increases in promoter activation following CSC exposure. The maximum response was observed between 6 and 24 hours of exposure with 15-, 25-, and 40-fold increases across the exposure range. The specificity of the promoter response was confirmed with co- exposure of the inhibitor all-trans retinoic acid with CSC. The CSC-induced Nrf2 activation was reduced towards control levels in the presence of the inhibitor. CSC also induced dose- and time-dependent increases on HO-1 mRNA and protein levels in NHBE cells. The mRNA changes ranged from 10- to 70-fold with maximal responses observed between 3 and 6 hours. The dynamic range of HO-1 protein response was observed and reached a level of 11-fold increase by 60 μg/ml. Collectively, these responses are consistent with our previously reported study which identified oxidative stress responsive genes in NHBE cells exposed to repetitive applications of CSC. The data suggest that changes in the Nrf2 regulatory pathway may serve as an effective indicator of oxidative stress and the impact of tobacco products in in vitro lung cell culture models. Citation Format: {Authors}. {Abstract title} [abstract]. In: Proceedings of the 101st Annual Meeting of the American Association for Cancer Research; 2010 Apr 17-21; Washington, DC. Philadelphia (PA): AACR; Cancer Res 2010;70(8 Suppl):Abstract nr 1693.
Passive Smoking and Impaired Endothelium-Dependent Arterial Dilatation in Healthy Young Adults
Authors: David S. Celermajer, Mark R. Adams, Peter Clarkson, Jacqui Robinson, Robyn McCredie, Ann Donald, John E. Deanfield
Journal: New England Journal of Medicine (1996)

Passive smoking has been linked to an increased risk of dying from atherosclerotic heart disease. Since endothelial dysfunction is an early feature of atherogenesis and occurs in young adults who actively smoke cigarettes, we hypothesized that passive smoking might also be associated with endothelial damage in healthy young-adult nonsmokers.
Children's thinking in the wake of Challenger
Authors: L C Terr, D A Bloch, B A Michel, H Shi, J A Reinhardt, S Metayer
Journal: American Journal of Psychiatry (1997)

The Challenger spacecraft explosion in 1986 offered an opportunity to study the thinking of normal children after a sudden and distant disaster, differences in thinking among children of different levels of emotional concern and different ages, and changes in their thinking over time.The authors studied six thinking patterns known to characterize childhood posttraumatic stress disorder and four additional hypothesized patterns in 153 randomly selected children of Concord, N.H. (who watched the explosion on television) and Porterville, Calif. (who heard about it later). They compared the structured-interview responses of the more involved (East Coast) and less involved (West Coast) children, of the latency-age children and the adolescents, and of the children initially (5-7 weeks after the explosion) and 14 months later.The children exhibited the 10 predictable thinking patterns. They initially defended themselves, denying the reality of the explosion. They later fantasized about it. They tried to cope by seeking additional information on their own, at home, and at school. Most children talked about Challenger, but a minority of the latency-age youngsters avoided related talk and thoughts. The adolescents experienced more paranormal thinking, philosophical changes, and negative attitudes. Over the year, omens, paranormal experiences, and Challenger-based fantasies tended to disappear, but negative views about institutions and the world's future held steady or increased.The children's thinking followed predictable patterns. A higher degree of emotional involvement (East Coast children) was strongly linked to these thinking patterns, as was being an adolescent. Distant disasters appear to set up commonalities of thought that might come to characterize certain generations of children.
Effects of Race and Income on Mortality and Use of Services among Medicare Beneficiaries
Authors: Marian E. Gornick, Paul W. Eggers, Thomas W. Reilly, Renee M. Mentnech, Leslye K. Fitterman, Lawrence E. Kucken, Bruce C. Vladeck
Journal: New England Journal of Medicine (1996)

There are wide disparities between blacks and whites in the use of many Medicare services. We studied the effects of race and income on mortality and use of services.
Treatment of B-Cell Lymphoma with Monoclonal Anti-Idiotype Antibody
Authors: Richard A. Miller, David G. Maloney, Roger Warnke, Ronald Levy
Journal: New England Journal of Medicine (1982)

HUMAN B-cell malignant tumors result from the proliferation of single clones of cells that express surface markers characteristic of normal B lymphocytes.1 , 2 In particular, the surface immunoglobulin expressed by these cells is monoclonal — i.e., restricted to a single light-chain type and to a particular variable region unique to each case. The unique immunoglobulin variable region (idiotype) of each lymphoma clone may be considered a tumor-specific marker, distinguishing tumor cells from normal cells in the patient. We and others have shown that anti-idiotype antibodies can be used to monitor B-cell tumors and to investigate the biology of these tumors.3 4 5 Because . . .
FRI0203 Mortality and Causes of Death among Incident Cases of SLE in Finland 2000-2008
Authors: P. Elfving, K. Puolakka, H. Kautiainen, L. Virta, T. Pohjolainen, O. Kaipiainen-Seppänen
Journal: Annals of the Rheumatic Diseases (2014)

<h3>Objectives</h3> To study mortality and causes of death in patients with recent onset systemic lupus erythematosus (SLE) in Finland. <h3>Methods</h3> SLE patients of this study were collected (2000-2007) from the nationwide register on new decisions of special reimbursements for drugs, maintained by Social Insurance Institution (SII) in Finland. Data on deaths of the patients were obtained from the official death certificate statistics of the Statistics Finland until the end of 2008. <h3>Results</h3> Of the 599 incident SLE patients, median follow-up time 5.4 (IQR 3.3, 7.1) years, 30 patients (23 females, 7 males), died in the years 2000 through 2008. Mean age at death was 67.8±17.2 years for females and 62.3±15.2 years for males. The 5 -year survival rates were 94.8% (95%CI 92.0 to 96.6%) and 88.2% (95%CI 76.5 to 94.3%), respectively. The age- and sex-adjusted standardized mortality ratio (SMR) was 1.48 (95%CI 1.01 to 2.12). Primary causes of death were cardiovascular diseases, malignancy and SLE itself. <h3>Conclusions</h3> Survival of the SLE patients was inferior to that of the general population. Cardiovascular diseases were responsible for 37% of deaths. <h3>Disclosure of Interest</h3> None declared <h3>DOI</h3> 10.1136/annrheumdis-2014-eular.3100
It's all about being first
Authors: Elizabeth Loder
Journal: BMJ (2007)

In the age-old competition among siblings, it's always been advantageous to be the first child. Firstborn sons, for example, may have special claims to family money, titles, or other assets. First children may get extra parental attention and time, and may be more successful at school or work than their later born siblings. As it turns out, though, for twins it is not just life's rewards but life itself that may hinge on being born first. Gordon Smith and colleagues (doi: 10.1136/bmj.39118.483819.55) performed a retrospective cohort study of over 1300 twin pregnancies in which one twin died and the other survived. For preterm infants, perinatal deaths were largely related to complications of prematurity and not birth order. For vaginal deliveries of …