tbuckley/cabot-search huggingface dataset:
Methodologic Pitfalls in the Determination of Genetic Anticipation: The Case of Crohn Disease
Authors: Michael F. Picco, Steven Goodman, James Reed, Theodore M. Bayless
Journal: Annals of Internal Medicine (2001)

Background: The term genetic anticipation is used when genetically transmitted disease manifests at increasingly younger ages with each succeeding generation: that is, if the offspring of patients develop the disease, they will tend to do so at an earlier age than their parents. In some monogenetic disorders, genetic anticipation has a biological basis in expanded genetic triplet repeats; however, some have claimed that it occurs in polygenic disorders, such as Crohn disease, in which its mechanism cannot be explained. Objective: To show how apparent changes in age at diagnosis of Crohn disease between generations, which could suggest genetic anticipation, can be an artifact of inadequate analysis based on age at diagnosis in cohorts that have not been followed for a sufficiently long time. Design: Comparison of ages at diagnosis of Crohn disease among different birth cohorts, before and after adjustment for observation time. Setting: Meyerhoff Center for Inflammatory Bowel Disease, Johns Hopkins Hospital, Baltimore, Maryland. Patients: 928 consecutive outpatients with Crohn disease. Measurements: Trends in age at diagnosis of Crohn disease among birth cohorts were determined by calculating Pearson correlation coefficients and performing Kaplan–Meyer analysis before and after adjustment for observation time. Adjustment for observation time was performed by ensuring that the time during which all included patients were at risk for Crohn disease was equal and that all patients had developed disease by the end of the risk period. Results: Mean age at diagnosis decreased by approximately 5 years with each subsequent 10-year birth cohort on the basis of crude cross-sectional data that could suggest genetic anticipation between generations. However, after adjustment for observation time, the age at diagnosis decreased minimally, if at all, with each successive generation. Conclusions: Apparent genetic anticipation can be explained by observational biases without invoking any additional genetic influences. Claims for genetic anticipation must be based on methods that properly account for the duration of observation in all persons being studied.
Regional variation in iron and iron-binding proteins within the lungs of smokers.
Authors: M E Nelson, A R O'Brien-Ladner, L J Wesselius
Journal: American Journal of Respiratory and Critical Care Medicine (1996)

The lungs of cigarette smokers are known to contain increased concentrations of extracellular ferritin-bound iron. Reductants present in cigarette smoke may mobilize alveolar ferritin-bound iron, which could then promote oxidative injury to lung cells. Because iron-mediated oxidative injury may be relevant to the pathogenesis of emphysema and lung cancer, which have a predilection for upper lobes, we sought to determine whether concentrations of extracellular iron, ferritin, and transferrin differed in upper and lower lobes of cigarette smokers. Bronchoalveolar lavage (BAL) was performed in the upper and lower lobes of 15 asymptomatic smokers and six healthy nonsmokers. BAL fluid recovered from upper lobes of smokers contained higher concentrations of iron (p < 0.01) and ferritin (p < 0.006) and lower concentrations of transferrin (p < 0.003) compared with the lower lobes. In contrast, BAL fluid recovered from upper and lower lobes of nonsmokers contained much lower concentrations of iron and ferritin, and concentrations were similar in both sites. These findings indicate that, compared with the lower lobes, upper lobes of the lungs of smokers contain higher extracellular concentrations of ferritin-bound iron and decreased concentrations of transferrin. This distribution of lung iron and iron-binding proteins may promote oxidative injury in the upper lobes of smokers.
Silicone Spray to Waterproof Adhesive Taping
Authors: F. W. Ilfeld, S. M. Field
Journal: JAMA (1967)

<h3>To the Editor:—</h3> Silicone aerosol spray, by waterproofing the adhesive tape applied over joints and surgical dressings, permits immediate bathing and showering. For about one year, to protect orthopedic adhesive taping, we have used a commercial silicone spray preparation which contains the maximum amount of silicone permitted by the FDA. In addition to waterproofing the tape, silicone forms a gliding surface and thus eliminates "runs" in ladies' nylon stockings. The spray is odorless, colorless, nonstaining, noninflammatory, waxless, heat stable, and unaffected by temperatures from —40 to 400 F. Silicone is an innocuous, inert substance, and medically useful in many ways. For example, Hughes and Wigley<sup>1</sup>advocate silicone spray in the prevention and treatment of decubitus skin disorders in domiciliary nursing. Waite<sup>2</sup>uses a silicone spray to disperse and prevent foaming in thoracotomy draining jars. Blum<sup>3</sup>uses permanent silasticmaterial prosthesis for urinary incontinence, and Brown et al<sup>4</sup>
Dystrophic form of inherited epidermolysis bullosa in a dog (Akita Inu)
Authors: M. NAGATA, H. SHIMIZU, T. MASUNAGA, T. NISHIKAWA, H. NANKO, K. KARIYA, T. WASHIZU, T. ISHIDA
Journal: British Journal of Dermatology (1995)

We report a dog with dystrophic epidermolysis bullosa. This 4-year-old female Akita Inu, a species of Canis familiaris var. japonicus Temminck, had a 3-year-history of ulcers and scars over the pressure areas on the limbs, and dystrophic nails, since the age of 1 year, which corresponds to early adulthood in humans. Electron microscopy of a blister revealed separation beneath the lamina densa, and a reduction in the number of anchoring fibrils. The NC-1 domain of type VII collagen was positively stained with monoclonal antibody LH7.2 at the basement membrane zone. These findings indicate that humans and dogs have a similar response to antibody LH7.2, which may aid the development of an animal model for this disease.
Tangier Disease
Authors: Peter N. Herbert, Trudy Forte, Robert J. Heinen, Donald S. Fredrickson
Journal: New England Journal of Medicine (1978)

Normal high-density lipoproteins are absent from plasma in Tangier disease, and the disorder is characterized by accumulation of cholesteryl esters in several tissues, particularly those of the reticuloendothelial system. Electron microscopy of the abnormal high-density lipoproteins in the plasma of three patients with Tangier diseases revealed large (68-nm), flattened, translucent particles in all cases. These particles were most abundant in the plasma of the splenectomized patient. Restriction of dietary fat eliminated or drastically reduced the numbers of these particles among the Tangier high-density lipoproteins. Thus abnormal products of chylomicron metabolism that appear to occur in plasma in this disorder may be targets for phagocytosis and may be at least one source of the cholesteryl esters that accumulate in reticuloendothelial tissues in Tangier disease.
Primary cutaneous peripheral T-cell lymphoma, unspecified, that completely regressed after skin biopsy
Authors: V. Madan, N.H. Cox
Journal: British Journal of Dermatology (2007)

Journal Article Primary cutaneous peripheral T‐cell lymphoma, unspecified, that completely regressed after skin biopsy Get access V. Madan, V. Madan Department of Dermatology, Cumberland Infirmary, Carlisle CA2 7HY, U.K. Search for other works by this author on: Oxford Academic Google Scholar N.H. Cox N.H. Cox Department of Dermatology, Cumberland Infirmary, Carlisle CA2 7HY, U.K. Correspondence: Neil Cox. E‐mail: neil.cox@ncumbria‐acute.nhs.uk Search for other works by this author on: Oxford Academic Google Scholar British Journal of Dermatology, Volume 156, Issue 4, 1 April 2007, Pages 785–786, https://doi.org/10.1111/j.1365-2133.2007.07751.x Published: 01 April 2007
Implementation of the American College of Cardiology and the American Heart Association's guidelines for preoperative cardiac risk assessment in a general medicine preoperative clinic: improving efficiency and preserving outcomes
Authors: Yassar Almanaseer, Rajendra H. Mehta, Sean K. Kesterson, Seema Sonnad, Bruce Rogers, Dean E. Smith, Scott Furney, Rob Ernst, Jane McCort, Kim A. Eagle
Journal: Journal of the American College of Cardiology (2002)
Reporting Recommendations for Tumor Marker Prognostic Studies (REMARK): Explanation and Elaboration
Authors: Douglas G. Altman, Lisa M. McShane, Willi Sauerbrei, Sheila E. Taube
Journal: PLoS Medicine (2012)

The REMARK (Reporting Recommendations for Tumor Marker Prognostic Studies) guideline includes a checklist which aims to improve the reporting of these types of studies. Here, we expand on the REMARK checklist to enhance its use and effectiveness through better understanding of the intent of each item and why the information is important to report. Each checklist item of the REMARK guideline is explained in detail and accompanied by published examples of good reporting. The paper provides a comprehensive overview to educate on good reporting and provide a valuable reference of issues to consider when designing, conducting, and analyzing tumor marker studies and prognostic studies in medicine in general.
Are ACA and Scl 70 antibodies mutually exclusive?
Authors: MARIA JARZABEK-CHORZELSKA, MARIA BŁASZCZYK, ZOFIA KOŁACIŃSKA-STRASZ, STEFANIA JABŁONSKA, T. CHORZELSKI, G.G. MAUL
Journal: British Journal of Dermatology (1990)

Serological studies using indirect immunofluorescence, double immunodiffusion and immunoblot with recombinant Topo I and kinetochore antigens were performed in 180 patients with systemic scleroderma. In the sera of 10 patients, we found coexisting ACA and Scl 70 antibodies, and this was confirmed by all three methods. The relationship between the coexistence of these antibodies and the clinical features of the disease is not clear, although in all these cases there was pronounced vascular involvement.
Childhood Lead Poisoning Prevention
Authors: Bruce P. Lanphear
Journal: JAMA (2005)

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 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) Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More 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
The Adenomatous Polyposis Coli Protein Is an Essential Regulator of Radial Glial Polarity and Construction of the Cerebral Cortex
Authors: Yukako Yokota, Woo-Yang Kim, Youjun Chen, Xinshuo Wang, Amelia Stanco, Yutaro Komuro, William Snider, E.S. Anton
Journal: Neuron (2009)
Vascular adhesion molecules in acute and chronic liver inflammation
Authors: Riccardo Volpes, Joost J. van den Oord, Valeer J. Desmet
Journal: Hepatology (1992)

Adhesion to and penetration through the sinusoidal vascular endothelium is a mandatory step for leukocyte migration and accumulation at sites of liver inflammation. This leukocyte trafficking is controlled by interactions between adhesion molecules on leukocytes and corresponding ligands on endothelial cells. We have analyzed the in situ distribution of two recently described vascular adhesion molecules (i.e., endothelial leukocyte adhesion molecule-1 and vascular cell adhesion molecule-1) and of the lymphocyte “homing” receptor cluster of differentiation antigen-44 in normal and inflamed liver biopsy specimens. Endothelial leukocyte adhesion molecule-1 and vascular cell adhesion molecule-1 were absent from normal liver tissue, but they were strongly expressed on sinusoidal lining cells in inflammatory liver diseases. Endothelial leukocyte adhesion molecule-1 expression predominated diffusely throughout the liver parenchyma in acute hepatitis; in contrast, vascular cell adhesion molecule-1 was mainly expressed in areas of periportal and intralobular inflammation in chronic active and persistent hepatitis. The “homing” receptor cluster of differentiation antigen-44 was weakly expressed on scattered mononuclear cells and on sinusoidal lining cells in normal liver tissue, but it was strongly up-regulated on mononuclear inflammatory cells and sinusoidal lining cells in acute and chronic hepatitis. In addition, reactivity for the cluster of differentiation antigen-44 was found on the membranes of variously sized clusters of hepatocytes in biopsy specimens with acute hepatitis. De novo or up-regulated expression of these adhesion molecules on sinusoidal lining cells in inflamed liver biopsy specimens indicates that these cells actively modulate their phenotype in response to environmental factors, thus playing a key role in the recruitment of leukocytes in acute and chronic liver inflammation. (Hepatology 1992;15:269-275).
Beta-Blockers after Myocardial Infarction — For Few Patients, or Many?
Authors: Martha J. Radford, Harlan M. Krumholz
Journal: New England Journal of Medicine (1998)

During the 1960s, Sir James W. Black developed propranolol, which the Nobel Committee in 1988 called “the greatest breakthrough when it comes to pharmaceuticals against heart illness since the discovery of digitalis 200 years ago.”1 Black recognized that an agent that blocked the cardiac effects of epinephrine might reduce ischemia and lower the risk of death by decreasing the heart's demand for oxygen. A series of elegant randomized clinical trials reported in the 1980s confirmed the value of Black's insight by showing that beta-blockers improve survival after myocardial infarction.2 In order to focus on the potential therapeutic benefit of beta-blockers, . . .
Cognitive Psychology of Missed Diagnoses
Authors: David D. Derauf
Journal: Annals of Internal Medicine (2005)

Letters21 June 2005Cognitive Psychology of Missed DiagnosesDavid D. Derauf, MD, MPHDavid D. Derauf, MD, MPHFrom the Kokua Kalihi Valley Health Center, Honolulu, HI 96819.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-142-12_Part_1-200506210-00021 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail TO THE EDITOR:I thank Dr. Redelmeier for his recent article on the cognitive psychology of missed diagnoses (1). I hope it will prove useful in my own clinical practice as well as in the teaching of clinical skills to medical students and residents. Regarding the framing pitfall, perhaps another clinical maxim to consider would be, “Never choose a frame too small for the picture.” In my own experience, it seems that framing is often the act of narrowing a diagnosis through choice of words, the utility of which needs to be weighed against the danger of prematurely eliminating alternative ...References1. Redelmeier DA. Improving patient care. The cognitive psychology of missed diagnoses. Ann Intern Med. 2005;142:115-20. [PMID: 15657159] LinkGoogle Scholar2. Beck RS, Daughtridge R, Sloane PD. Physician-patient communication in the primary care office: a systematic review. J Am Board Fam Pract. 2002;15:25-38. [PMID: 11841136] MedlineGoogle Scholar Author, Article, and Disclosure InformationAuthors: David D. Derauf, MD, MPHAffiliations: From the Kokua Kalihi Valley Health Center, Honolulu, HI 96819.Disclosures: None disclosed. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetailsSee AlsoThe Cognitive Psychology of Missed Diagnoses Donald A. Redelmeier Cognitive Psychology of Missed Diagnoses Donald A. Redelmeier Cognitive Psychology of Missed Diagnoses Donald A. Redelmeier Metrics Cited byDelayed Diagnosis of Disseminated Cryptococcosis with Associated Meningoencephalitis in an Immunocompetent Septuagenarian Host 21 June 2005Volume 142, Issue 12_Part_1Page: 1026KeywordsAnxietyCognitive psychologyConflicts of interest ePublished: 21 June 2005 Issue Published: 21 June 2005 Copyright & PermissionsCopyright © 2005 by American College of Physicians. All Rights Reserved.PDF downloadLoading ...
Doctors question government's prediction of an end to premature heart deaths
Authors: Katherine Burke
Journal: BMJ (2004)

Claims that the NHS in England is “winning the war” against coronary heart disease andthat premature deaths resulting from the condition will become “very rare” over the next decade have been criticised as simplistic by experts in the field.

In a four year progress report on the implementation of the national service frameworkfor coronary heart disease, published last week, the national clinical director for heart disease, Dr Roger Boyle, claimed that the “corner had been turned” in preventing and treating coronary heart disease. Results in the report showed that the …
CLINICAL TRIALS OF TOLNAFTATE AND VARIOTIN
Authors: R. R. WETHERED, W. R. HEELER, R. P. WARIN
Journal: British Journal of Dermatology (1967)

Journal Article CLINICAL TRIALS OF TOLNAFTATE AND VARIOTIN Get access R. R. WETHERED, B.A., B.M., B.Ch., R. R. WETHERED, B.A., B.M., B.Ch. Bristol Royal Hospital, Bristol, 1 Search for other works by this author on: Oxford Academic Google Scholar W. R. HEELER, M.B., Ch.B., M.R.C.P., Edin., W. R. HEELER, M.B., Ch.B., M.R.C.P., Edin. Bristol Royal Hospital, Bristol, 1 Search for other works by this author on: Oxford Academic Google Scholar R. P. WARIN, M.D., F.R.C.P. R. P. WARIN, M.D., F.R.C.P. Bristol Royal Hospital, Bristol, 1 Search for other works by this author on: Oxford Academic Google Scholar British Journal of Dermatology, Volume 79, Issue 6, 1 June 1967, Pages 352–356, https://doi.org/10.1111/j.1365-2133.1967.tb11506.x Published: 01 June 1967
Serial Reduction of Ventilation in Lung With Congenital Absence of Pulmonary Artery
Authors: MELISSA M. LANTZ, JOHN J. SZIKLAS, DANIEL J. DIANA, RICHARD P. SPENCER
Journal: Clinical Nuclear Medicine (1995)

A 3-year-old boy with unilateral absence of the right pulmonary artery had a lung scan that demonstrated 46% of total ventilation on that side. This had fallen to 39% by 2 years later, and at 11 years after the first study the value was 30%. Ventilation lung imaging may be useful in demonstrating the degree of ventllatory dysfunction in a lung compromised by absence of the pulmonary artery. Possible causes of the pulmonary damage are discussed.
Hemodynamic effects of verapamil in children and adolescents with hypertrophic cardiomyopathy.
Authors: R L Spicer, A P Rocchini, D C Crowley, J Vasiliades, A Rosenthal
Journal: Circulation (1983)

The acute hemodynamic effects of verapamil were evaluated in nine children with hypertrophic cardiomyopathy. Verapamil, 0.1 mg/kg, was administered as an i.v. bolus over 2 minutes, followed by a 20-minute continuous infusion of 0.007 mg/kg/min. Hemodynamic measurements were obtained at rest in nine patients and at maximal supine bicycle exercise in seven before and 15 minutes after verapamil. At rest, verapamil increased the mean cardiac output from 3.3 +/- 0.9 to 3.7 +/- 0.9 l/min/m2 (+/- SD) (p less than 0.02) and decreased left ventricular end-diastolic pressure from 19.3 +/- 8.1 to 14.5 +/- 6.9 mm Hg (p less than 0.006). In six patients with resting left ventricular outflow tract obstruction, the systolic pressure gradient decreased from 17.5 +/- 7.2 to 5.2 +/- 4.5 mm Hg (p less than 0.04). Repeat supine bicycle exercise testing after verapamil showed increases in total work performed (1743 +/- 1284 to 3168 +/- 1643 kg-m, p less than 0.006) and maximal cardiac index during exercise (6.5 +/- 1.3 to 7.8 +/- 1.8 l/min/m2, p less than 0.05), and decreases in maximal exercise left ventricular end-diastolic pressure (29.1 +/- 10.1 to 19.3 +/- 10.4 mm Hg, p less than 0.002) and left ventricular systolic outflow tract gradient (31.2 +/- 10.5 to 1.75 +/- 1.7 mm Hg, p less than 0.04). These results suggest that verapamil may be an effective therapeutic agent for the treatment of hypertrophic cardiomyopathy in children.
Single-Step Percutaneous Transhepatic Cholecystoscopy
Authors: H. v. Sanden, W. Schmitt, R. Ottenjann
Journal: Endoscopy (1990)

A 58-year-old female patient with several concrements in the gallbladder submitted herself to pump-controlled percutaneous transhepatic chemolitholysis with methyl-tert-butyl-ether (MTBE). Shortly before the treatment terminated a calcified residual concrement caused an acute blockage of the cystic duct. After opening the puncture track with a bougie, followed by endoscopic lithotripsy, the cystic duct was made passable again.
Cell infiltration, ICAM-1 expression, and eosinophil chemotactic activity in asthmatic sputum.
Authors: R Louis, J Shute, S Biagi, L Stanciu, F Marrelli, H Tenor, R Hidi, R Djukanović
Journal: American Journal of Respiratory and Critical Care Medicine (1997)

We have applied the technique of sputum induction by hypertonic saline in asthmatics and nonatopic control subjects to study an array of indices of airway inflammation believed to be relevant to asthma pathogenesis. Compatible with a central role for eosinophils and mast cells in asthma, sputum of asthmatic subjects contained increased numbers of eosinophils and levels of eosinophil cationic protein (ECP) and mast cell tryptase. Eosinophil numbers, and ECP and histamine levels correlated with the degree of methacholine airways responsiveness, and ECP, tryptase, and histamine correlated with raised concentrations of albumin. Using the micro-Boyden chamber technique eosinophil chemotactic activity was identified only in the sputum from asthmatics. The correlation between the raised levels of total IgA, IL-8/IgA complexes, and tryptase and the degree of sputum eosinophilia and ECP levels, suggests possible mechanisms for eosinophil chemotaxis and activation in asthma. Row cytometric analysis of sputum lymphocytes showed an increase in CD4+ T cells and T cells expressing intercellular adhesion molecule-1 (ICAM-1) in asthma which, together with the finding of raised levels of soluble ICAM-1 in the sputum, indicates upregulation of this adhesion molecule. Finally, the proportion of CD16+ natural killer (NK) cells was reduced in the sputum of asthmatics. These observations highlight the importance of the airway inflammation in causing asthma and further confirm the usefulness of sputum induction as a tool in asthma research.