tbuckley/cabot-search huggingface dataset:
Deletion of a 5-cM Region at Chromosome 8p23 Is Associated With a Spectrum of Congenital Heart Defects
Authors: Sabrina Giglio, Sharon L. Graw, Giorgio Gimelli, Barbara Pirola, Paolo Varone, Lucille Voullaire, Franco Lerzo, Elena Rossi, Claudia Dellavecchia, Maria Clara Bonaglia, Maria Cristina Digilio, Aldo Giannotti, Bruno Marino, Romeo Carrozzo, Julie R. Korenberg, Cesare Danesino, Eva Sujansky, Bruno Dallapiccola, Orsetta Zuffardi
Journal: Circulation (2000)

Background —Cytogenetic evidence suggests that the haploinsufficiency of ≥1 gene located in 8p23 behaves as a dominant mutation, impairing heart differentiation and leading to a wide spectrum of congenital heart defects (CHDs), including conotruncal lesions, atrial septal defects, atrioventricular canal defects, and pulmonary valve stenosis. An 8p heart-defect–critical region was delineated, and the zinc finger transcription factor GATA4 was considered a likely candidate for these defects. We narrowed this region and excluded a major role of GATA4 in these CHDs. Methods and Results —We studied 12 patients (7 had CHD and 5 did not) with distal 8p deletions from 9 families by defining their chromosome rearrangements at the molecular level by fluorescent in situ hybridization and short-tandem repeat analysis. Subjects with 8p deletions distal to D8S1706, at ≈10 cM from the 8p telomere, did not have CHD, whereas subjects with a deletion that included the more proximal region suffered from the spectrum of heart defects reported in patients with 8p distal deletions. The 5-cM critical region is flanked distally by D8S1706 and WI-8327, both at ≈10 cM, and proximally by D8S1825, at 15 cM. Neither GATA4 nor angiopoietin-2 (ANGPT2; a gene in 8p23 involved in blood vessel formation) were found to be deleted in some of the critical patients. We also found that CHDs are not related to the parental origin of deletion. Conclusions —Haploinsufficiency for a gene between WI-8327 and D8S1825 is critical for heart development. A causal relationship does not seem to exist between GATA4 and ANGPT2 haploinsufficiency and CHDs.
1164-132 Effect of acute administration of L-propionylcarnitine on coronary flow velocity reserve in patients with systemic sclerosis
Authors: Roberta Montisci, Massimo Ruscazio, Alessandra Vacca, Pietro Garau, Giuseppe Passiu, Alessandro Mathieu, Sabino Iliceto, Luigi Meloni
Journal: Journal of the American College of Cardiology (2004)
Normobaric Oxygen Toxicity of the Lung
Authors: Susan M. Deneke, Barry L. Fanburg
Journal: New England Journal of Medicine (1980)

ALTHOUGH oxygen therapy has been of clear benefit in many clinical settings, it also carries a risk of tissue damage. All tissues of the body can be injured by sufficiently high oxygen concentrations, but the lung is exposed directly to the highest partial pressure of inspired oxygen. The precise concentration of oxygen that is toxic to the lung probably depends on a large number of variables in the exposed person, including age, nutrition, endocrine status, and previous exposure to oxygen or other oxidants.1 2 3 Hyperbaric oxygen accelerates the effects of oxygen toxicity and also damages the central nervous system, probably because . . .
Immunolocalization of extracellular matrix components and integrins during mouse liver development
Authors: Nobuyoshi Shiojiri, Yoshinori Sugiyama
Journal: Hepatology (2004)

Intrahepatic biliary cell differentiation takes place in periportal hepatoblasts under the influence of the subjacent connective tissue, the mechanism of which is still unclear. This study was undertaken to analyze the immunolocalization of extracellular matrix components and their cellular receptors during mouse liver development, with special attention given to biliary differentiation and vascular development. In young fetal mouse liver, primitive structures of sinusoids were developed between hepatic cords associated with hematopoietic cells demonstrated by immunohistochemistry of basal laminar components, the α6 integrin subunit, and PECAM-1. Portal veins and hepatic veins showed different staining intensities of α2, α3, and α6 integrin subunits from early stages of development. Anti-β4 integrin subunit antibodies reacted with portal veins, but not with hepatic veins after perinatal stages. Their different phenotypes may be related to the preferential differentiation of periportal bile ducts. In intrahepatic bile duct development, periportal hepatoblasts adjacent to the connective tissue were immunostained for each basal laminar component on the basal side at almost the same time; α3, α5, α6, and β4 integrin subunits were immunohistochemically detectable later than the basal laminar components. These staining patterns of intrahepatic bile duct cells clearly differed from those of extrahepatic bile duct cells from the beginning of their development, suggesting that these ducts are of different origins. In conclusion , the vascular structures, including sinusoids, portal veins, and hepatic veins, develop from early stages of liver development, and the extracellular matrix components may play important roles in biliary differentiation and vascular development. Supplementary material for this article can be found on the Hepatology website (http://interscience.wiley.com/jpages/0270-9139/suppmat/index.html). (Hepatology 2004;40:346-355.)
Neither IL-17A mRNA Nor IL-17A Protein Are Detectable in Langerhans Cell Histiocytosis Lesions
Authors: Tricia L Peters, Kenneth L McClain, Carl E Allen
Journal: Molecular Therapy (2011)

Langerhans cell histiocytosis (LCH) is a rare disease characterized by heterogeneous lesions including CD207(+)/CD1a(+) dendritic cells that can result in significant morbidity and mortality. The etiology of LCH remains speculative, and neoplastic and inflammatory origins have been debated for decades. A recent study identified abundant interleukin-17 (IL-17A) protein in dendritic cells in LCH lesions as well as in plasma from patients with active disease. Furthermore, it identified dendritic cells as a novel source of IL-17A expression. However, subsequent studies from our research group failed to identify any IL-17A gene expression from CD207(+) dendritic cells or CD3(+) T cells in LCH lesions. In this study, further investigation once again fails to identify any cells in LCH lesions with IL-17A gene expression. Furthermore, IL-17A antigen is undetectable in LCH lesion lysates with western blotting, immunoprecipitation, spectral analysis, and enzyme-linked immunosorbent assay (ELISA). Western blots, immunoprecipitation, and ELISA experiments also demonstrate that antibodies used in original studies that established the IL-17A hypothesis for pathogenesis of LCH recognize nonspecific proteins. We conclude that evidence for IL-17A as a significant factor in LCH remains inadequate and clinical trials targeting IL-17A remain unjustified.
Abstract A08: Investigating tumor vasculature development and the effects of OXi4503 by non-invasive photoacoustic imaging
Authors: Sean Peter Johnson, Ollie Ogunlade, Edward Zhang, Mark Lythgoe, Paul Beard, Rosamund Barbara Pedley
Journal: Cancer Research (2015)

Abstract Vasculature-targeted cancer therapies, such as vascular disrupting or anti-angiogenic agents, interact directly with tumor blood vessels. Direct longitudinal assessment of vascular response, as opposed to indirect measures of tumor volume, would aid clinical translation for these targeted therapies, but novel treatment strategies require adequate biomarkers of response. OXi4503 (Combretastatin-A1 phosphate, CA1P) is a vascular disrupting agent (VDA) known to have significant antitumor effects against a wide range of pre-clinical human tumor model systems, and in the clinic. OXi4503 causes disruption of the central tumor vasculature within an hour of administration, followed by thrombosis and vessel occlusion, resulting in massive central tumor necrosis 24 hours after treatment but leaving a thin viable rim of tumor cells. Photoacoustic imaging (PAI) is a novel non-ionising and non-invasive technique, that provides 3D images of the vascular microenvironment with high spatial resolution. Structural information of blood vessel location, and potentially functional data as well, can therefore be obtained in a longitudinal manner. It is thus ideally suited to assess preclinical models of subcutaneous tumors with regard to vascular targeted therapies. We have used PAI to investigate the development of tumor blood vessels, and the effects of OXi4503 (40mg/kg) on the vasculature of 2 human colorectal xenografts grown in nude mice. Results: The human colorectal tumor cell lines SW1222 and LS174T were established as subcutaneous models in nude mice, by the injection of 5X106 tumor cells. Using PAI we were able to: Determine the extent and pattern of tumor vascularization, non-invasively, over time Differentiate between the pathophysiologies of different tumor types Follow the response to vascular targeted therapy Determine the length of time to tumor regrowth following therapy Conclusion: The data suggest that PAI could prove invaluable in providing imaging biomarkers of response to treatment for vascular targeted therapies, with potential for clinical translation. Citation Format: Sean Peter Johnson, Ollie Ogunlade, Edward Zhang, Mark Lythgoe, Paul Beard, Rosamund Barbara Pedley. Investigating tumor vasculature development and the effects of OXi4503 by non-invasive photoacoustic imaging. [abstract]. In: Abstracts: AACR Special Conference on Cellular Heterogeneity in the Tumor Microenvironment; 2014 Feb 26-Mar 1; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2015;75(1 Suppl):Abstract nr A08. doi:10.1158/1538-7445.CHTME14-A08
Albert Bruce Sabin, MD
Authors: Lawrence D. Grouse
Journal: JAMA (1993)

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 HomeNew OnlineCurrent IssueFor Authors Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More 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 journal
Dimethyl Sulfoxide in Musculoskeletal Disorders
Authors: Edward E. Rosenbaum
Journal: JAMA (1965)

Recent discovery that dimethyl sulfoxide (DMSO), a versatile commercial solvent, possesses unique medicinal properties opens up a new and rewarding field of pharmacotherapeutics. Dimethyl sulfoxide was first synthesized in 1867. Today, it is available in crude form as a by-product of the paper pulp industry, and during the past five years it has found extensive use as an industrial solvent. Its value in protecting biologic specimens against freezing damage is well known.  Several years ago one of the authors (S.J.) of this paper consulted another (R.H.) relative to obtaining dimethyl sulfoxide for protecting surgically removed kidneys and hearts against freezing damage prior to transplantation. On this occasion one author mentioned that he had observed that DMSO enhanced the penetration of dyes into human skin and possessed the property of rapid absorption through the bark or roots of trees and plants. It had been noted that DMSO enhanced the penetration of
THROMBUS ASPIRATION IN PATIENTS WITH ST-ELEVATION MYOCARDIAL INFRACTION UNDERGOING PRIMARY PERCUTANEOUS CORONARY INTERVENTION &amp;ndash; INSIGHTS FROM THE ACUTE CORONARY SYNDROME ISRAELI SURVEY 2010
Authors: Mady Moriel, Shlomi Matetsky, Amit Segev, Ran Kornowski, Haim Danenberg, Liudmila Bubyr, Ilan Goldenberg, Dan Tzivoni, Shmuel Gottlieb
Journal: Journal of the American College of Cardiology (2012)
Deletion of H-Ras decreases renal fibrosis and myofibroblast activation following ureteral obstruction in mice
Authors: M. Teresa Grande, Isabel Fuentes-Calvo, Miguel Arévalo, Fabiana Heredia, Eugenio Santos, Carlos Martínez-Salgado, Diego Rodríguez-Puyol, M. Angela Nieto, José M. López-Novoa
Journal: Kidney International (2009)
The spur of death
Authors: T. Dalrymple
Journal: BMJ (2010)

However many times one swears not to leave matters to the last possible moment, one’s resolution is never kept; the lecture that one has agreed to give next Tuesday remains unwritten until Monday evening. There is nothing like a little panic to concentrate the mind wonderfully.

Deadlines are not called deadlines for nothing. The term hints at the suspicion that without the prospect of death we should never get anything done. Everything could wait for another few centuries; nothing would be urgent.

Valuable as death may be as a stimulus to human effort, however, it is an uncomfortable subject for human minds. La Rochefoucauld said that neither the sun nor death could be stared at …
Psoriasis and basement-membrane laminin
Authors: J.P. McFadden, A. Powles, I. Kimber, L. Fry
Journal: British Journal of Dermatology (2013)

Journal Article Psoriasis and basement‐membrane laminin Get access J.P. McFadden, J.P. McFadden St John's Institute of Dermatology St Thomas' Hospital King's College London SE1 7EH U.K E‐mail: john.mcfadden@kcl.ac.uk Search for other works by this author on: Oxford Academic Google Scholar A. Powles, A. Powles Department of Dermatology St. Mary's Hospital London U.K Search for other works by this author on: Oxford Academic Google Scholar I. Kimber, I. Kimber Faculty of Life Sciences University of Manchester Michael Smith Building, Oxford Rd Manchester M13 9PT U.K Search for other works by this author on: Oxford Academic Google Scholar L. Fry L. Fry Faculty of Medicine St. Mary's Campus Imperial College London U.K Search for other works by this author on: Oxford Academic Google Scholar British Journal of Dermatology, Volume 169, Issue 3, 1 September 2013, Pages 718–719, https://doi.org/10.1111/bjd.12400 Published: 01 September 2013
Two different functions for CD44 proteins in human myelopoiesis.
Authors: J Moll, S Khaldoyanidi, J P Sleeman, M Achtnich, I Preuss, H Ponta, P Herrlich
Journal: Journal of Clinical Investigation (1998)

CD44 is important during myelopoiesis, although the contributions of variant CD44 proteins are unclear. We show here that in human long-term bone marrow culture antibodies recognizing a CD44 NH2-terminal epitope (mab 25-32) or a CD44v6 epitope (mab VFF18) inhibit myelopoiesis. However, mab 25-32 but not mab VFF18 affects myeloid colony formation. These data suggest that an early precursor cell compartment is the target for the 25-32 antibody, whereas the mab VFF18 targets later stages in myelopoiesis. Since the bulk of hemopoietic precursor cells are negative for the v6 epitope and only a minor subset of myeloid cells express the v6 epitope, we have used several human myeloid progenitor cell lines to unravel the function of different CD44 proteins. These cell lines produce variant CD44 proteins, predominantly a new variant CD44v4-v10, when stimulated towards myeloid differentiation. Features that can be acquired by the expression of CD44v4-v10 are an increased hyaluronate (HA) and a de novo chondroitin sulphate A (CS-A) binding. Although, the expression of CD44v4-v10 per se is necessary for HA and CS-A binding, the protein backbone seems to require appropriate glycosylation. HA binding results in CD44-mediated cellular self-aggregation and adhesion to the stromal cell line MS-5. In summary, our data suggest that different CD44 proteins are important for at least two different steps in myelopoiesis.
Rheumatology: Diagnosis and Therapeutics
Authors: George E. Ehrlich
Journal: Annals of Internal Medicine (1999)

Medical Writings: Book Notes17 August 1999Rheumatology: Diagnosis and TherapeuticsGeorge E. Ehrlich, MDGeorge E. Ehrlich, MDUniversity of Pennsylvania, Philadelphia, Pennsylvania. (Ehrlich)Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-131-4-199908170-00027 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail Cush JJ, Kavanaugh AF, Olsen NJ, Stein CM, Salahuddin K, Saag KG. 559 pages. Baltimore: Williams & Wilkins; 1999. $39.95. ISBN 0683300148. Order phone 800-638-0672.Field of medicine: Rheumatology.Format: Softcover book.Audience: Clinicians, primary care physicians, trainees, and other medical providers.Purpose: To provide a succinct but complete reference book to aid the busy clinician in caring for patients with musculoskeletal symptoms.Content: There are three major sections, plus appendices and special features. The first section, “Diagnosis: A User's Guide,” contains detailed instructions on how to evaluate musculoskeletal symptoms, concentrating on regional and systemic presentations. It also lists and ... Author, Article, and Disclosure InformationAffiliations: University of Pennsylvania, Philadelphia, Pennsylvania. (Ehrlich) PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics 17 August 1999Volume 131, Issue 4Page: 315KeywordsDrugsFeversFibromyalgiaInternational classification of diseases ninth revisionMuscular dystrophiesPrimary care physiciansRashesResearch laboratoriesRheumatologySurgery ePublished: 15 August 2000 Issue Published: 17 August 1999 Copyright & PermissionsCopyright © 1999 by American College of Physicians. All Rights Reserved.PDF downloadLoading ...
So many, so wrong
Authors: Wendy Moore
Journal: BMJ (2007)

Somewhere in the basement beneath the Hall of Fame there is a dusty broom cupboard reserved for those who have championed history's greatest medical errors. Here are remembered those often well meaning and frequently hard working souls who have committed their lives to pushing medical progress in completely the wrong direction. 

Some might suggest that damaging public faith in a safe and highly effective vaccine against childhood diseases would guarantee a future place. But space is at a premium, since the past can already furnish numerous examples of pioneers who have singlehandedly set back the course …
Small Vessels, Big Problems
Authors: Steven M. Greenberg
Journal: New England Journal of Medicine (2006)

The impressive gains in stroke prevention and treatment seen over the past decade have not been evenly distributed across all types of stroke. Most advances have pertained to the approximately two thirds of symptomatic strokes that are caused by disease of the large arteries (those more than 0.1 mm in diameter) that run from the neck into the skull, the circle of Willis, and the surface of the brain. These large-vessel subtypes of stroke include atherosclerotic narrowing and occlusion of the large neck vessels, aneurysmal rupture and subarachnoid hemorrhage over the brain surface, and thromboembolic occlusion of the major vessel . . .
Improvement of HbA1c and Blood Glucose Stability in IDDM Patients Treated With Lispro Insulin Analog in External Pumps
Authors: Vincent Melki, Eric Renard, Véronique Lassmann-Vague, Sophie Boivin, Bruno Guerci, Héléne Hanaire-Broutin, Jacques Bringer, Pauline Belicar, Nathalie Jeandidier, Laurent Meyer, Patrick Blin, Béatrice Augendre-Ferrante, Jean-Pierre Tauber
Journal: Diabetes Care (1998)

OBJECTIVE To compare the efficacy of the short-acting insulin analog lispro (LP) with that of regular insulin in IDDM patients treated with an external pump. RESEARCH DESIGN AND METHODS Thirty-nine IDDM patients (age, 39.4 ± 1.5 years; sex ratio, 22M/17W; BMI, 24.4 ± 0.4 kg/m2; diabetes duration, 22.5 ± 1.6 years) who were treated by external pump for 5.1 ± 0.5 years were involved in an open-label, randomized, crossover multicenter study comparing two periods of 3 months of continuous subcutaneous insulin infusion with LP or with Actrapid HM, U-100 (ACT). Boluses were given 0–5 min (LP) or 20–30 min (ACT) before meals. Blood glucose (BG) was monitored before and after the three meals every day. RESULTS The decrease in HbA1c was more pronounced with LP than with ACT (−0.62 ± 0.13 vs. −0.09 ± 0.15%, P = 0.01). BG levels were lower with LP (7.93 ± 0.15 vs. 8.61 ± 0.18 mmol/l, P &amp;lt; 0.0001), particularly postprandial BG levels (8.26 ± 0.19 vs. 9.90 ± 0.20 mmol/l, P &amp;lt; 0.0001). Standard deviations of all the BG values (3.44 ± 0.10 vs. 3.80 ± 0.10 mmol/l, P = 0.0001) and of postprandial BG values (3.58 ± 0.10 vs. 3.84 ± 0.10 mmol/l. P &amp;lt; 0.02) were lower with LP. The rate of hypoglycemic events defined by BG &amp;lt; 3.0 mmol/l did not significantly differ between LP and ACT (7.03 ± 0.94 vs. 7.94 ± 0.88 per month, respectively), but the rate of occurrences of very low BG, defined as BG &amp;lt; 2.0 mmol/l, were significantly reduced with LP (0.05 ± 0.05 vs. 0.47 ± 0.19 per month, P &amp;lt; 0.05). At the end of the study, all but two (95%) of the patients chose LP for the extension phase. CONCLUSIONS When used in external pumps, LP provides better glycemic control and stability than regular insulin and does not increase the frequency of hypoglycemic episodes.
Beyond the Recommendation: Discerning Achievable Goals in Clinical Ethics Consultation
Authors: Joseph B. Fanning, Nanibaa’ A. Garrison, Larry R. Churchill
Journal: The American Journal of Bioethics (2015)

Dr. Feister (2015) proposes that clinical ethics consultation should extend beyond making a recommendation and should aim for closure, which can be achieved through bioethics mediation. We are alig...