tbuckley/cabot-search huggingface dataset:
Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13
Authors: Julian Zielenski, Mary Corey, Richard Rozmahel, Danuta Markiewicz, Isabel Aznarez, Teresa Casals, Sara Larriba, Bernard Mercier, Garry R. Cutting, Alice Krebsova, Milan Macek, Elinor Langfelder-Schwind, Bruce C. Marshall, J. DeCelie-Germana, Mirreille Claustres, Ana Palacio, Jerzy Bal, Aleksandra Nowakowska, Claude Ferec, Xavier Estivill, Peter Durie, Lap-Chee Tsui
Journal: Nature Genetics (1999)
Intrathoracic extramedullary haematopoiesis complicated by massive haemothorax in alpha-thalassaemia
Authors: K.-A. Chu, R.-S. Lai, C.-H. Lee, J.-Y. Lu, H.-C. Chang, H.-T. Chiang
Journal: Thorax (1999)

Intrathoracic extramedullary haematopoiesis (EMH) is a rare entity that is usually asymptomatic. A 44 year old man with alpha-thalassaemia is described who developed dyspnoea and massive left sided haemothorax. The haemoglobin disorder was established by Hgb H staining and haemoglobin electrophoretic studies. The DNA analysis revealed it to be a case of double heterozygous terminal codon mutation with the genotype αα<sup>CS</sup>/αα<sup>T</sup>. Computed tomographic scanning and magnetic resonance imaging of the thorax showed multiple paravertebral masses which were found by thoracoscopic biopsy to be extramedullary haematopoiesis. Although no additional sclerosing pleurodesis or low dose radiation therapy was given, the lung expanded well and there has been no recurrence of haemothorax to date.
Acute and Chronic Posttraumatic Stress Disorder in Motor Vehicle Accident Victims
Authors: Robert J. Ursano, Carol S. Fullerton, Richard S. Epstein, Brian Crowley, Tzu-Cheg Kao, Kelley Vance, Karrie J. Craig, Angela L. Dougall, Andrew Baum
Journal: American Journal of Psychiatry (1999)

This study reports the rates of acute and chronic posttraumatic stress disorder (PTSD) in a suburban community study group of 122 victims of serious motor vehicle accidents and a comparison group of 42 (who had been involved in minor, non-motor-vehicle accidents) followed over 12 months.Motor vehicle accident victims were systematically recruited and examined with comparison subjects at 1, 3, 6, 9, and 12 months after the accident. The authors used the Structured Clinical Interview for DSM-III-R to assess DSM-III-R axis I disorders including PTSD.One month after the accident, 34.4% of the motor vehicle accident victims met criteria for PTSD (versus 2.4% of the comparison subjects). Similarly, at 3 and 6 months, rates of PTSD were higher (25.2% and 18.2%) in the motor vehicle accident victims than in the comparison group. Female victims were 4.64 times more likely than male victims to have PTSD at 1 month. Victims with a history of PTSD were 8.02 times more likely at 1 month and 6.81 times more likely at 3 months to have PTSD than those without a history of PTSD. Having an axis II disorder increased the risk for PTSD at 6 months. After adjustment for a history of PTSD and potentially confounding variables, women were 4.39 times more likely than men to develop PTSD at 1 month but did not have a higher risk for chronic PTSD; at 6 months, those with an axis II disorder were at greater risk of PTSD.Rates of PTSD are high in victims of serious motor vehicle accidents and remain high 9 months later. Female victims have an increased risk of acute but not chronic PTSD. Individuals with a history of PTSD are at risk of acute and chronic PTSD. An axis II disorder increases the risk for chronic but not acute PTSD.
Investigating the Clinical Relevance of Genomic Characteristics in Luminal a and B Breast Cancer (Bc)
Authors: V. Kotoula, F. Zagouri, E. Timotheadou, Z. Alexopoulou, R. Wirtz, A. Lyberopoulou, S. Lakis, H. Gogas, E. Charalambous, G. Pentheroudakis, D. Pectasides, A. Koutras, P. Papakostas, C. Christodoulou, P. Kosmidis, K.T. Kalogeras, G. Fountzilas
Journal: Annals of Oncology (2014)
The influence of heredity on the persistence and onset-age of asthma
Authors: Elina M.S. Paaso, Maritta S. Jaakkola, Aino K. Rantala, Timo T. Hugg, Jouni J.K. Jaakkola
Journal: European Respiratory Journal (2014)

Background: Parental asthma has been linked to personal asthma previously, but the effects of heredity on the persistence and onset-age of asthma until young adulthood need further studies.

Objectives: We investigated the influence of heredity on transient vs. persistent and early-onset vs. late-onset asthma in the Espoo Cohort Study 20-year follow-up of 1623 people (63.2% of the baseline).

Methods: Asthmatics (n = 220) were divided into persistent asthma according to symptoms and/or medication in the follow-ups after the initial diagnosis of asthma and transient if otherwise. Persistent asthma was divided into early- and late-onset asthma using the age of 13 years as cut-point. The determinants were any heredity (any parent or sibling); maternal; paternal; both parents; siblings only; parents only and both siblings and parents . Adjusted risk ratios (RRa) were calculated with Poisson regression and Q-statistics to calculate heterogeneity between RRs.

Results: Heredity influenced all the subtypes but in various ways. Most hereditary determinants had a stronger impact on persistent asthma than transient, but siblings only had a similar impact on both (persistent: RRa = 2.16, 95% CI = 1.27-3.68; transient: RRa = 2.10, 95% CI = 1.15-3.86; heterogeneity P = 0.95). Maternal asthma seemed to effect only early-onset asthma (RRa = 2.75, 95% CI = 1.62-4.69) while the impact of paternal asthma continued (early: RRa = 2.28, 95% CI = 1.15-4.53; late: RRa = 1.98, 95% CI = 0.76-5.15; heterogeneity P = 0.81).

Conclusions: Heredity plays the most important role in persistent and early-onset asthma. The impact of paternal asthma continues to young adulthood while the influence of maternal asthma decreases with age.
Increased epithelial permeability in pulmonary fibrosis in relation to disease progression
Authors: N.S.L. Goh, S.R. Desai, C. Anagnostopoulos, D.M. Hansell, R.K. Hoyles, H. Sato, C.P. Denton, C.M. Black, R.M. du Bois, A.U. Wells
Journal: European Respiratory Journal (2010)

Epithelial injury contributes to pathogenesis in idiopathic pulmonary fibrosis (IPF) but its role in the interstitial lung disease (ILD) of systemic sclerosis (SSc) is uncertain. We quantified the prognostic significance of inhaled technetium-99m ( 99m Tc)-labelled diethylene triamine pentacetate (DTPA) pulmonary clearance, a marker of the extent of epithelial injury, in both diseases. Baseline 99m Tc-DTPA pulmonary clearance was evaluated retrospectively in patients with SSc-ILD (n = 168) and IPF (n = 97) against mortality and disease progression. In SSc-ILD, the rapidity of total clearance (hazard ratio (HR) 1.02, 95% CI 1.01–1.03; p = 0.001) and the presence of abnormally rapid clearance (HR 2.10; 95% CI 1.25–3.53; p = 0.005) predicted a shorter time to forced vital capcity (FVC) decline, independent of disease severity. These associations were robust in both mild and severe disease. By contrast, in IPF, delayed clearance of the slow component, an expected consequence of honeycomb change, was an independent predictor of a shorter time to FVC decline (HR 1.01, 95% CI 1.00–1.02; p&lt;0.01). Epithelial injury should be incorporated in pathogenetic models in SSc-ILD. By contrast, outcome is not linked to the overall extent of epithelial injury in IPF, apart from abnormalities ascribable to honeycombing, suggesting that core pathogenetic events may be more spatially focal in that disease.
HbA1c and Lower-Extremity Amputation Risk in Low-Income Patients With Diabetes
Authors: Wenhui Zhao, Peter T. Katzmarzyk, Ronald Horswell, Yujie Wang, Jolene Johnson, Steven B. Heymsfield, William T. Cefalu, Donna H. Ryan, Gang Hu
Journal: Diabetes Care (2013)

Diabetes confers a very high risk of lower-extremity amputation (LEA); however, few studies have assessed whether blood glucose control can reduce LEA risk among patients with diabetes, especially in practice settings where low-income patients predominate.We performed a prospective cohort study (2000-2009) on patients with diabetes that included 19,808 African Americans and 15,560 whites. The cohort was followed though 31 May 2012. Cox proportional hazards regression models were used to estimate the association of HbA1c with LEA risk.During a mean follow-up of 6.83 years, 578 LEA incident cases were identified. The multivariable-adjusted hazard ratios of LEA associated with different levels of HbA1c at baseline (<6.0% [reference group], 6.0-6.9, 7.0-7.9, 8.0-8.9, 9.0-9.9, and ≥10.0%) were 1.00, 1.73 (95% CI 1.07-2.80), 1.65 (0.99-2.77), 1.96 (1.14-3.36), 3.02 (1.81-5.04), and 3.30 (2.10-5.20) (P trend <0.001) for African American patients with diabetes and 1.00, 1.16 (0.66-2.02), 2.28 (1.35-3.85), 2.38 (1.36-4.18), 2.99 (1.71-5.22), and 3.25 (1.98-5.33) (P trend <0.001) for white patients with diabetes, respectively. The graded positive association of HbA1c during follow-up with LEA risk was observed among both African American and white patients with diabetes (all P trend <0.001). With stratification by sex, age, smoking status, blood pressure, LDL cholesterol, BMI, use of glucose-lowering agents, and income, this graded association of HbA1c with LEA was still present.The current study conducted in a low-income population suggests a graded association between HbA1c and the risk of LEA among both African American and white patients with type 2 diabetes.
Ventricular Preexcitation Modulates Strain and Attenuates Cardiac Remodeling in a Swine Model of Myocardial Infarction
Authors: Allan C. Shuros, Rodney W. Salo, Viorel G. Florea, Joseph Pastore, Michael A. Kuskowski, Y. Chandrashekhar, Inder S. Anand
Journal: Circulation (2007)

Myocardial infarction modifies the distribution of stress within the heart, increasing wall stress in ischemic and surrounding tissue, which often leads to adverse left ventricular remodeling. Electrical preexcitation pacing with appropriate timing of high-stress regions can reduce local strain and may attenuate global remodeling.Myocardial infarction was induced in 24 swine to study the short-term (n=12) and long-term (n=12) effects of therapy. Sonomicrometry and hemodynamic measurements were used to show the mechanistic effects of preexcitation and to determine the optimal stimulation site and atrioventricular delay. Lagrangian strain was used to assess regional loading characteristics. Long-term study animals were randomized to 8 weeks of preexcitation (therapy) or no pacing (control). Echocardiograms were performed 2 days after myocardial infarction and repeated at 60 days, when tissue weights and apoptosis were assessed. Preexcitation reduced regional strain in the short term, with the best results achieved when the border region was paced at an atrioventricular delay of 50% of the intrinsic PR interval. In the long term, the changes in left ventricular internal diameter and left atrial size were decreased in therapy animals versus control animals (0.9+/-0.3 versus 1.5+/-0.5 cm, P=0.03, and 1.06+/-0.78 versus 2.32+/-0.88 cm, P<0.04, respectively). Heart weight was significantly lower in the therapy animals than in the control animals (319.8+/-20.8 versus 359.6+/-29.3 g, P=0.02). Although not significant, cardiomyocyte apoptosis trended lower in the therapy group.Preexcitation of the left ventricle after myocardial infarction reduced strain and stroke work in the infarct and border regions in the short term and attenuated adverse ventricular remodeling in the long term.
Deaths in risk classes I-III: a measure of quality of care in patients hospitalised with CAP?
Authors: T.J. Marrie
Journal: European Respiratory Journal (2003)

All deaths occurring in patients with community-acquired pneumonia in risk classes I–III were reviewed as a quality-of-care measure. The immediate and underlying causes of death were classified according to the World Health Organization protocol. Eleven (1.8%) of the 608 low-risk patients died. Three of the patients did not have pneumonia, one of whom was admitted with atypical pulmonary oedema due to stenosis of a prosthetic heart valve. Failure to include chronic lung disease in the severity-of-illness scoring system resulted in misclassification of seven patients. The most common underlying causes of death were pulmonary fibrosis at 27%, chronic obstructive lung disease at 18% and cancer at 27%. Respiratory failure was the immediate cause of death in 64% of patients, cardiac causes in 27%, and pneumonia in 9%. To conclude, the review of deaths in patients at low risk for mortality is useful for monitoring the quality of care received by patients who require admission for the treatment of community-acquired pneumonia, and that the pneumonia-specific severity-of-illness scoring system results in misclassification of patients with chronic obstructive lung disease and pulmonary fibrosis.
STUDIES ON THE PRECIPITIN REACTION
Authors: Michael Heidelberger, Forrest E. Kendall
Journal: The Journal of Experimental Medicine (1933)

1. Partial hydrolysis products of the specific polysaccharide of Type III pneumococcus ranging from 550 to 1,800 in formula weight can be quantitatively freed from unhydrolyzed polysaccharide. 2. The fractions yield specific precipitates with Type III antipneumococcus horse serum but fail to precipitate homologous rabbit antisera, giving rise only to specific inhibition. The aldobionic acid, the structural unit of S III, does not precipitate antisera. 3. A possible explanation and a possible application of the findings are pointed out.
Multimarker Approach for the Prediction of Heart Failure Incidence in the Community
Authors: Raghava S. Velagaleti, Philimon Gona, Martin G. Larson, Thomas J. Wang, Daniel Levy, Emelia J. Benjamin, Jacob Selhub, Paul F. Jacques, James B. Meigs, Geoffrey H. Tofler, Ramachandran S. Vasan
Journal: Circulation (2010)

Several biological pathways are activated in ventricular remodeling and in overt heart failure (HF). There are no data, however, on the incremental utility of a parsimonious set of biomarkers (reflecting pathways implicated in HF) for predicting HF risk in the community.We related a multibiomarker panel to the incidence of a first HF event in 2754 Framingham Heart Study participants (mean age, 58 years; 54 women) who were free of HF and underwent routine assays for 6 biomarkers (C-reactive protein, plasminogen activator inhibitor-1, homocysteine, aldosterone-to-renin ratio, B-type natriuretic peptide, and urinary albumin-to-creatinine ratio). We estimated model c statistic, calibration, and net reclassification improvement to assess the incremental predictive usefulness of biomarkers. We also related biomarkers to the incidence of nonischemic HF in participants without prevalent coronary heart disease. On follow-up (mean, 9.4 years), 95 first HF events occurred (54 in men). In multivariable-adjusted models, the biomarker panel was significantly related to HF risk (P=0.00005). On backward elimination, B-type natriuretic peptide and urinary albumin-to-creatinine ratio emerged as key biomarkers predicting HF risk; hazards ratios per 1-SD increment in log marker were 1.52 (95 confidence interval, 1.24 to 1.87) and 1.35 (95 confidence interval, 1.11 to 1.66), respectively. B-type natriuretic peptide and urinary albumin-to-creatinine ratio significantly improved the model c statistic from 0.84 (95 confidence interval, 0.80 to 0.88) in standard models to 0.86 (95 confidence interval, 0.83 to 0.90), enhanced risk reclassification (net reclassification improvement=0.13; P=0.002), and were independently associated with nonischemic HF risk.Using a multimarker strategy, we identified B-type natriuretic peptide and urinary albumin-to-creatinine ratio as key risk factors for new-onset HF with incremental predictive utility over standard risk factors.
Tumor-infiltrating dendritic cell precursors recruited by a β-defensin contribute to vasculogenesis under the influence of Vegf-A
Authors: Jose R Conejo-Garcia, Fabian Benencia, Maria-Cecilia Courreges, Eugene Kang, Alisha Mohamed-Hadley, Ronald J Buckanovich, David O Holtz, Ann Jenkins, Hana Na, Lin Zhang, Daniel S Wagner, Dionyssios Katsaros, Richard Caroll, George Coukos
Journal: Nature Medicine (2004)
Physician Reporting Compared with Medical-Record Review to Identify Adverse Medical Events
Authors: Anne C. O'Neil
Journal: Annals of Internal Medicine (1993)

To assess the effectiveness of housestaff physician reporting as a method for identifying adverse events on a medical service and to compare the physician reporting mechanism with a retrospective record review mechanism.Medical service of an urban, university-affiliated teaching hospital.Concurrent physician reporting mechanism using the hospital electronic mail system compared with a retrospective record review using a screening mechanism followed by structured, implicit physician review of the record.All 3146 admissions to the medical service from 13 November 1990 to 14 March 1991.The housestaff physician reporting method identified nearly the same number (89) of adverse events as did the record review (85). However, the two methods identified only 41 of the same patients (kappa = 0.52). No statistically significant clinical or socioeconomic differences occurred between the patients identified as having had an adverse event, using the two reporting methods (physician versus record review). The housestaff did report statistically more preventable adverse events (62.5% compared with 32%; P = 0.003). The physician reporting mechanism was also less costly (approximately $15,000 compared with $54,000).An adverse event identification strategy based on physician self-referral uncovers as many adverse events as does a record review and is less costly. In addition, physician-identified events are more likely to be preventable and, thus, are targets for quality improvement.
Telepsychiatry: Videoconferencing in the Delivery of Psychiatric Care
Authors: Jay H. Shore
Journal: American Journal of Psychiatry (2013)

The provision of psychiatric treatment via live interactive videoconferencing, frequently termed telepsychiatry, is a viable option for psychiatrists to provide care to individual patients, populations, and communities faced with limited access and to move the point of care delivery into patients' living environments. Psychiatric providers new to videoconferencing should not be intimidated by the technology or its encompassing logistics, but they do need to develop an awareness of the salient regulatory, administrative, and clinical issues that arise in the practice of videoconferencing-based telepsychiatry. This article provides an overview of the current evidence base in telepsychiatry and reviews administrative and clinical issues in videoconferencing-based treatment. These points are then highlighted in a case example.
Intravesical administration of small interfering RNA targeting PLK-1 successfully prevents the growth of bladder cancer
Authors: Masaki Nogawa, Takeshi Yuasa, Shinya Kimura, Motoyoshi Tanaka, Junya Kuroda, Kiyoshi Sato, Asumi Yokota, Hidekazu Segawa, Yoshinobu Toda, Susumu Kageyama, Tatsuhiro Yoshiki, Yusaku Okada, Taira Maekawa
Journal: Journal of Clinical Investigation (2005)

The mainstay in the management of invasive bladder cancer continues to be radical cystectomy. With regard to improvement of quality of life, however, therapies that preserve the bladder are desirable. We investigated the use of intravesical PLK-1 small interfering RNA (siRNA) against bladder cancer. Patients with bladder cancers expressing high levels of PLK-1 have a poor prognosis compared with patients with low expression. Using siRNA/cationic liposomes, the expression of endogenous PLK-1 could be suppressed in bladder cancer cells in a time- and dose-dependent manner. As a consequence, PLK-1 functions were disrupted. Inhibition of bipolar spindle formation, accumulation of cyclin B1, reduced cell proliferation, and induction of apoptosis were observed. In order to determine the efficacy of the siRNA/liposomes in vivo, we established an orthotopic mouse model using a LUC-labeled bladder cancer cell line, UM-UC-3LUC. PLK-1 siRNA was successfully transfected into the cells, reduced PLK-1 expression, and prevented the growth of bladder cancer in this mouse model. This is the first demonstration, to our knowledge, of inhibition of cancer growth in the murine bladder by intravesical siRNA/cationic liposomes. We believe intravesical siRNA instillation against bladder cancer will be useful as a therapeutic tool.
Participation of suppressor T cells in the immunosuppressive activity of a heteroantiserum to human Ia-like antigens (p23,30).
Authors: S Broder, D L Mann, T A Waldmann
Journal: The Journal of Experimental Medicine (1980)

We studied the effects of an antiserum to human Ia-like antigens (p23,30) upon the polyclonal activation of normal B cells (cultured with various combination of irradiated and unirradiated T cells) to become immunoglobulin-secreting cells after stimulation with pokeweed mitogen in vitro. We found that the antiserum suppressed immunoglobulin production. The inhibitory effect did not appear to result from a simple interaction at the B-cell/monocyte level alone. Rather, the inhibitory effect required the presence of a radiosensitive subset of autologous suppressor T cells.
Interferon inhibits the redistribution of cell surface components.
Authors: L M Pfeffer, E Wang, I Tamm
Journal: The Journal of Experimental Medicine (1980)

Interferon treatment impairs the ability of cells to redistribute cell surface receptors for concanavalin A (Con A). The effect of interferon becomes evident within 3-6 h and is maximal within 36-48 h. Highly purified human fibroblast interferon (&amp;gt; 2 x 10(8) U/mg of protein sp act; concentration; 640 U/ml) caused approximately 85% inhibition of capping of fluorescein-conjugated Con A in interferon-sensitive HeLa-S3 cells at 36 h from the beginning of treatment.
Lung dendritic cells and host immunity to infection
Authors: B.N. Lambrecht, J-;B. Prins, H.C. Hoogsteden
Journal: European Respiratory Journal (2001)

The lung is a portal of entry for numerous microbial pathogens, against which evolution has created an adequate innate and adaptive immune response. Dendritic cells (DCs) are central to the integration of innate and specific immunity. These cells are located within the epithelium and interstitium of the lung where they are influenced by the innate immune system. Upon recognition and internalization of microbial antigens, DCs migrate to the draining lymph nodes of the lung to initiate the specific cellular and humoral immune response. By their capacity to integrate stimuli derived from the pathogen, the host and the environment, they are specialized to induce a protective immune response while at the same time avoiding damage to the host. It is becoming increasingly clear that dendritic cells are involved in the induction of immunity to viruses, bacteria, mycobacteria and fungi. Some pathogens subvert the function of dendritic cells to escape immune recognition. Not surprisingly, if dendritic cell function fails, the consequence for the host is immunodeficiency.