tbuckley/cabot-search huggingface dataset:
Case 19-1976
Authors: Richard C. Cabot, Robert E. Scully, James J. Galdabini, Betty U. McNeely, Barry L. Fanburg, Eugene J. Mark
Journal: New England Journal of Medicine (1976)

Presentation of CaseA 61-year-old man was admitted to the hospital because of pulmonary lesions.There was a long history of a symptomatic duodenal ulcer without bleeding. Four years before admission hypertension was found, and chlorothiazide was prescribed. Eighteen months before entry a diagnosis of diabetes mellitus was made, and treatment with insulin zinc (Lente insulin), 40 units daily, was begun. After losing 14 kg in weight on a dietary regimen he was able to reduce his insulin dose gradually. Two months before admission he discontinued insulin; repeated tests disclosed no glycosuria. An x-ray examination of the chest, performed elsewhere, . . .
Mutations in<i>VRK1</i>Associated With Complex Motor and Sensory Axonal Neuropathy Plus Microcephaly
Authors: Claudia Gonzaga-Jauregui, Timothy Lotze, Leila Jamal, Samantha Penney, Ian M. Campbell, Davut Pehlivan, Jill V. Hunter, Suzanne L. Woodbury, Gerald Raymond, Adekunle M. Adesina, Shalini N. Jhangiani, Jeffrey G. Reid, Donna M. Muzny, Eric Boerwinkle, James R. Lupski, Richard A. Gibbs, Wojciech Wiszniewski
Journal: JAMA Neurology (2013)

<h3>Importance</h3> Patients with rare diseases and complex clinical presentations represent a challenge for clinical diagnostics. Genomic approaches are allowing the identification of novel variants in genes for very rare disorders, enabling a molecular diagnosis. Genomics is also revealing a phenotypic expansion whereby the full spectrum of clinical expression conveyed by mutant alleles at a locus can be better appreciated. <h3>Objective</h3> To elucidate the molecular cause of a complex neuropathy phenotype in 3 patients by applying genomic sequencing strategies. <h3>Design, Setting, and Participants</h3> Three affected individuals from 2 unrelated families presented with a complex neuropathy phenotype characterized by axonal sensorimotor neuropathy and microcephaly. They were recruited into the Centers for Mendelian Genomics research program to identify the molecular cause of their phenotype. Whole-genome, targeted whole-exome sequencing, and high-resolution single-nucleotide polymorphism arrays were performed in genetics clinics of tertiary care pediatric hospitals and biomedical research institutions. <h3>Main Outcomes and Measures</h3> Whole-genome and whole-exome sequencing identified the variants responsible for the patients' clinical phenotype. <h3>Results</h3> We identified compound heterozygous alleles in 2 affected siblings from 1 family and a homozygous nonsense variant in the third unrelated patient in the vaccinia-related kinase 1 gene (<i>VRK1</i>). In the latter subject, we found a common haplotype on which the nonsense mutation occurred and that segregates in the Ashkenazi Jewish population. <h3>Conclusions and Relevance</h3> We report the identification of disease-causing alleles in 3 children from 2 unrelated families with a previously uncharacterized complex axonal motor and sensory neuropathy accompanied by severe nonprogressive microcephaly and cerebral dysgenesis. Our data raise the question of whether<i>VRK1</i>mutations disturb cell cycle progression and may result in apoptosis of cells in the nervous system. The application of unbiased genomic approaches allows the identification of potentially pathogenic mutations in unsuspected genes in highly genetically heterogeneous and uncharacterized neurological diseases.
Scientists find gene linking inherited breast and ovarian cancer to non-inherited cases
Authors: S. Mayor
Journal: BMJ (2003)

A new gene for breast and ovarian cancer has been identified, which explains the link between hereditary and “sporadic” (non-inherited) forms of these cancers.

It has been known for some time that mutations in the BRCA1 and BRCA2 genes are associated with inherited breast and ovarian cancer. However, only 5% of breast cancers are inherited and no role had been found for these genes in non-inherited cancers.

Researchers have been hunting for the genes associated with sporadic breast cancers–95% of cases–ever since the BRCA genes were first identified, eight years ago.

Research published this week has identified a new gene, EMSY, which …
Multidrug Resistance: P-glycoprotein and Its Allies--The Elusive Foes
Authors: B. A. Chabner, A. Fojo
Journal: JNCI Journal of the National Cancer Institute (1989)

Journal Article Multidrug Resistance: P-glycoprotein and Its Allies—The Elusive Foes Get access Bruce A. Chabner, Bruce A. Chabner Division of Cancer Treatment, National Cancer Institute, National Institutes of HealthBldg. 31, Rm. 3A52, Bethesda, MD 20892 Search for other works by this author on: Oxford Academic PubMed Google Scholar Antonio Fojo Antonio Fojo Division of Cancer Treatment, National Cancer Institute, National Institutes of HealthBldg. 31, Rm. 3A52, Bethesda, MD 20892 Search for other works by this author on: Oxford Academic PubMed Google Scholar JNCI: Journal of the National Cancer Institute, Volume 81, Issue 12, 21 June 1989, Pages 910–913, https://doi.org/10.1093/jnci/81.12.910 Published: 21 June 1989 Article history Received: 08 May 1989 Accepted: 08 May 1989 Published: 21 June 1989
Bennett and Brachman’s Hospital Infections
Authors: Calvin M. Kunin
Journal: JAMA (2008)

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
Red cell survival time in man measured by 50Cr and activation analysis.
Authors: G. W. Donaldson, P. F. Johnson, P. Tothill, J. Richmond
Journal: BMJ (1968)

obtained are considerably lower than previously accepted values based on chemical analysis of cadavers.The presence of a significant sodium pool, not detected by isotope dilution techniques, was confirmed.The techniques described in this paper involving the neutron irradiation of living subjects have been approved by an ethical committee of Birmingham University.Clinicians and physicists were represented on the committee, which included the Radiation Protection Officers of the University and of the United Birmingham Hospitals.The work involving cadavers was done with the per- mission of the Inspector of Anatomy at the Home Office.
Loss of kindlin-3 alters the threshold for NK cell activation in human leukocyte adhesion deficiency-III
Authors: Raizy Gruda, Alice C. N. Brown, Valentin Grabovsky, Saar Mizrahi, Chamutal Gur, Sara W. Feigelson, Hagit Achdout, Yotam Bar-on, Ronen Alon, Memet Aker, Daniel M. Davis, Ofer Mandelboim
Journal: Blood (2012)
Prognostic significance of WT1 gene expression at diagnosis in adult de novo acute myeloid leukemia
Authors: D Schmid, G Heinze, B Linnerth, K Tisljar, R Kusec, K Geissler, C Sillaber, K Laczika, M Mitterbauer, S Zöchbauer, C Mannhalter, OA Haas, K Lechner, U Jäger, A Gaiger
Journal: Leukemia (1997)
Toxic Thromboplastic Extracts of Skin
Authors: Charles L. Fox, Ian A. Holder, Lucinda L. Malin
Journal: JAMA (1964)

IN 1962 IN THE US, 1.8 million patients were hospitalized with extensive burns and there were 11,500 deaths.<sup>1</sup>Despite advances in knowledge of the pathology of thermal burns, mortality remains high with many deaths occurring after the initial shock. These "late deaths" are frequently ascribed to pulmonary involvement or infection. The initial treatment for shock is primarily replacement of body fluids accomplished by administration of large volumes of fluids, including solutions of sodium salts, colloidal solutions such as plasma, albumin, or dextran, and whole blood. It is noteworthy that in various hospitals in the US and in burn centers in Europe, widely differing combinations of these fluids are utilized.<sup>2</sup>In seeking improvements in therapy it is essential to reevaluate the experimental work to ascertain both the therapeutic potential and the limitations of fluid replacement.<sup>1</sup>Recently, S. M. Rosenthal compared the overall effect of fluid therapy in burn shock and
STUDIES ON EXPERIMENTAL HYPERTENSION
Authors: Yale J. Katz, Harry Goldblatt
Journal: The Journal of Experimental Medicine (1943)

1. Extraction of finely ground fresh hog kidney with distilled water adjusted to pH 7.8 with sodium hydroxide, followed by successive treatment, as described, with trichloroacetic acid and acetone, gives renin in good yield of a purity suitable for physiological studies and a good starting material for further purification. It contains 15 dog units per mg. N. 2. Further successive purification of this material with ethyl alcohol and ammonium sulfate gives a preparation containing 130 dog units per mg. N. The purest preparation hitherto reported (15) contained 16.0 to 20.8 units per mg. N. Preliminary Tiselius electrophoresis studies suggest homogeneity, but further studies to establish purity are in progress. 3. The properties of the most purified renin indicate that it is a protein. Its chemical and physiological properties correspond to those of the material in crude renal extract which induces an elevation of blood pressure when it is injected intravenously.
Expression cloning of a human Fc receptor for IgA.
Authors: C R Maliszewski, C J March, M A Schoenborn, S Gimpel, L Shen
Journal: The Journal of Experimental Medicine (1990)

IgA, the predominant isotype in secretions, mediates the neutralization and removal of environmental antigens from mucosal sites. Although cell surface receptors for the Fc region of IgA (Fc alpha R) have been implicated in a variety of immune effector mechanisms, the molecular features of Fc alpha R remain only marginally characterized. In this report, we describe the isolation of a clone from a myeloid cell line cDNA library that directs the expression of a cell surface molecule with IgA binding specificity. The cDNA encodes a peptide of Mr 30,000 including a putative transmembrane region with features atypical of conventional membrane-anchored proteins. Databank searches indicate that the human myeloid cell Fc alpha R sequence is unique, is a member of the immunoglobulin gene superfamily, and is related to Fc receptors for IgG (Fc gamma RI, II, and III) and IgE (Fc epsilon RI).
Acupuncture analgesia: an experimental investigation.
Authors: D Stewart, J Thomson, I Oswald
Journal: BMJ (1977)

A study was designed to establish whether acupuncture has any analgesic properties beyond those of suggestion. In three one-hour experimental sessions the increases in detection thresholds and tolerances for thermal pain at six body locations on 12 subjects were compared. A control session (without needles) was followed by one session in which electrically stimulated needles were inserted in accord with Chinese practice, and another in which the needles were inserted to avoid all recognised acupuncture "points." Acupuncture was significantly more effective than suggestion in raising overall body pain thresholds but just below significance for tolerances. A significant disproportionate effect on the epigastrium, predicted by the choice of acupuncture points, was found for tolerances but not thresholds.
Abstract P3-12-13: First analysis of ASTER study AT for 3 cycles followed by CMF for 3 cycles as neo or adjuvant chemotherapy in early stage breast cancer. A single institution experience
Authors: G Mariani, G Galli, P Mariani, GV Bianchi, G Capri, S Cresta, S Damian, E De Benedictis, P Valagussa, D Magazzu', FG De Braud, A Moliterni
Journal: Cancer Research (2013)

Abstract Background: The ECTO study demonstrated the efficacy of concurrent doxorubicin and paclitaxel (AT) for 4 cycles followed by cyclophosphamyde/ methotrexate/fluorouracil (CMF) for 4 cycles in the neoadjuvant and adjuvant treatment of operable breast cancer (Gianni L. et al. JCO 2009). With the purpose of ameliorating the tolerability of the regimen, we designed the ASTER study to reduce both the duration and the total dose of treatment with AT followed by CMF. Herein we report on the first data of efficacy of the study and the toxicity. Methods: A total of 345 patients with operable breast cancer were enrolled between September 2008 and November 2011. Median age was 50 years (range 23-74); 74.5% of patients presented with hormonal receptor positive (HR +) and 23,5% of patients with both hormonal receptor negative (HR-PgR-); 19% of patients presented HER2 over expression/amplification; half patients had Ki67 &amp;gt;14%, almost of patients had pT1 (66%) or pT2 (30%) with 27,5% of pN0. Patients were treated with Adriamycin (60 mg/mq) + Paclitaxel (200 mg/mq) q21 for 3 cycles followed by CMF i.v. 1, 8q28 for 3 cycles (73 as neo-adjuvant and 272 as adjuvant regimen). After chemotherapy in patients with HER2+ trastuzumab was delivered for 1 yr and in patients with HR+ tumors hormonal treatment was recommended for 5 yr. Breast irradiation was mandatory after conserving surgery (64% of cases). Results: At a median follow-up of 36 months, the relapse free survival (RFS) and overall survival (OS) were 92% and 96% respectively. As expected in patients HR+/HER2- RFS were 95% and OS 99%, in patients HER2+ RFS were 90% and OS 97% and in those HR-/HER2- 83% and 79% respectively. In the neoadjuvant subset tnpCR, defined as the absence of invasive cells in the primary tumor and in nodes, was obtained in 10% of cases. A tnpCR was achieved in 27% of patients with triple negative cancer and only in 5% of HR positive cancer. Peripheral neuropathy toxicity was reported in 37% of cases and was essentially mild to moderate. Only 8,7% of patients experienced neutropenia G 3, 4,3% GI toxicity G3 and 2,3% mucositis G3. No cardiotoxicity was documented even in the 65 patients who received postoperative trastuzumab to date. Conclusions: This results of Aster study AT for 3 cycles followed by CMF for 3 cycles showed similar efficacy and very favorable toxicity compared whit our previous experience of eighth cycle of sequential and non cross resistant chemotherapy in early stage breast cancer. Citation Information: Cancer Res 2013;73(24 Suppl): Abstract nr P3-12-13.
End-of-life decision-making and quality of ICU performance: an observational study in 84 Italian units
Authors: Guido Bertolini, Simona Boffelli, Paolo Malacarne, Mario Peta, Mariano Marchesi, Camillo Barbisan, Stefano Tomelleri, Simonetta Spada, Roberto Satolli, Bruno Gridelli, Ivo Lizzola, Davide Mazzon
Journal: Intensive Care Medicine (2010)
Prolactin: Effects and Clinical Significance
Authors: William R. Barclay
Journal: JAMA (1979)

This volume, like others in the series of research reviews, summarizes the recently published literature. This is a small book printed on a poor quality of paper, but it is well bound and most importantly well written and edited. Of the 105 pages of text, only about 20 are concerned with human clinical studies; the rest describe experimental studies in animals. The references, which cover the years 1976 and 1977, take up 43 pages and are arranged alphabetically by name of the senior author. Prolactin is certainly one of the most interesting hormones, and the availability of bromocriptine to suppress prolactin secretion in certain clinical situations makes it a substance of great interest to clinicians. This book would be a disappointing purchase for most clinicians but would be a valuable acquisition for those conducting investigations into the subject of prolactin and its effects.
725-5 Improved Outcome in Patients with Prior Percutaneous Transluminal Coronary Angioplasty and an Evolving Myocardial Infarction
Authors: Marino Labinaz, Michael H. Sketch, Amanda L. Stebbins, Alec Vahanian, Eric J. Topol, Robert M. Califf
Journal: Journal of the American College of Cardiology (1995)
A Comedy of Errors
Authors: A. E. Fishman
Journal: JAMA (1966)

<h3>To the Editor:—</h3> The authors cite the difficulties inherent in this study, such as the variability of seasons, complications, and the control of additional therapeutic measures. Above all, they aver, psychological factors are most important in the evaluation of symptoms. This last statement of itself demonstrates that they were more impressed with the psyche than with specific therapy. They talk about performing a double-blind study but later admit that their secretary was influenced in the collection of data. They suggested that this secretary was biased in favor of hyposensitization with antigen. Of course this is in itself opinionated thinking by the authors. They do not mention variables such as exposure of patients to pollen. All of their patients were not exposed to the same amount of pollens daily and were not in the same location daily throughout the season. Such things as host susceptibility and resistance were not considered. Symptoms
Mechanism of Androgen Receptor Activation and Possible Implications for Chemoprevention Trials
Authors: Helmut Klocker, Zoran Culig, Iris E. Eder, Claudia Nessler-Menardi, Alfred Hobisch, Thomas Putz, Georg Bartsch, Heike Peterziel, Andrew C.B. Cato
Journal: European Urology (1999)
Contractile reserve and left ventricular function in regional myocardial ischemia in the dog.
Authors: C Yoran, E H Sonnenblick, E S Kirk
Journal: Circulation (1982)

Contractile activity remaining in a region made ischemic by acute occlusion of the left anterior descending coronary artery (LAD) was assessed in dogs relative to its role in maintaining left ventricular (LV) function. Compensatory increases in contractility of normal myocardium were eliminated by treating all dogs with reserpine (3 mg/kg) to deplete their catecholamine stores. LV function was determined by measuring stroke volume while increasing the LV filling pressure with a shunt from the aorta to left atrium. Heart rate and mean aortic pressure were kept constant. LV function was studied after occlusion of the LAD alone and after the selective infusion of potassium chloride (1 mEq/ml) into the LAD to raise the regional extracellular potassium concentration to 30 mEq/ml. The reduction in LV function induced by LAD ligation was less than the reduction caused by abolishing contraction in the entire zone supplied by the LAD with infusion of potassium. The totally cardioplegic zone induced by potassium amounted to 20.3-39.8% of the LV mass. At an LV end-diastolic pressure of 12 mm Hg, stroke volume (SV) was reduced in proportion to the size of the cardioplegic zone: -SV (% volume) = -1.55% (% of LV mass) + 120.1 (r = -0.69, p less than 0.005). Thus, a dyskinetic zone of 35% of the left ventricle reduced stroke volume by 34% when adrenergic compensation was blocked. We conclude that residual transmural contractility exists in the ischemic region of myocardium subserved by an obstructed LAD and contributes significantly to LV function.
Streptococcal impetigo and acute glomerulonephritis in children in Cairo*
Authors: SAWSAN H.M. TAYEB, EZZAT M.M. NASR, ATEF S. ATTALLAH
Journal: British Journal of Dermatology (1978)

Impetigo contagiosa in Cairo affected young children of both sexes, the face being the main site. Post-impetigo nephritis, confirmed by a low serum C3 level and by urinalysis, occurred in only 11% of cases. Streptococcus pyogenes strains were recovered from 84% of the skin lesions. Sixteen types were identified according to their T-protein, and most infections were associated with T3/B3264, T13/B3264, T5, T11, T12, T8/25/Imp 19 and T14/49; the majority of these types were also recovered from houseflies. The types isolated from cases of post-impetigo nephritis were T4 (M 60), T14/49 (M 49), T8/25/Imp 19 (mostly M 55) and T11. Seventy percent of the patients infected with T4 (M 60) and 40% of those infected with T14/49 (M 49) developed nephritis. Strains isolated from the skin bore a closer resemblance to those isolated from the nose than to those found in the throat. The ASO response was poor in uncomplicated impetigo but the titre rose more often in post-impetigo nephritis.
Enhancing the Effectiveness of Food Labeling in Restaurants
Authors: Karen Blumenthal
Journal: JAMA (2010)

STARTING WITH NEW YORK CITY IN 2006 AND MORE recently in California and Massachusetts, an increasing number of municipalities and states have enacted or are considering legislation mandating calorie posting by fast food restaurants. In recent months, the House and Senate introduced health care reform bills with provisions for menu labeling. The House bill—based on the Menu Education and Labeling (MEAL) Act—would require chain restaurants with 20 or more locations to post the number of calories, grams of saturated fat, and milligrams of sodium next to menu items. Modifying fast food intake is a sensible target for a society confronted with an obesity epidemic that has farreaching health and economic consequences. The Nutrition Labeling and Education Act of 1990 led to the ubiquitous labeling of packaged foods. However, the total proportion of food consumed in restaurants has increased steadily since then, and there is a strong, albeit only suggestive, correlation between obesity and patronage of fast food restaurants. It is unlikely, however, that the type of calorie labeling going into effect around the country will have much effect on the prevalence of obesity. Existing evidence on the effectiveness of point-of-purchase calorie labeling is equivocal at best. Calorie labeling can potentially be helpful but whether it is will largely depend on how it is implemented.
Corrigendum to: PEDF induces p53-mediated apoptosis through PPAR gamma signaling in human umbilical vein endothelial cells
Authors: T.-C. Ho, S.-L. Chen, Y.-C. Yang, C.-L. Liao, H.-C. Cheng, Y.-P. Tsao
Journal: Cardiovascular Research (2008)

[ Cardiovascular Research, Volume 76, Issue 2, 1 November 2007, Pages 213–223 ]

Following publication of this article, it was brought …