tbuckley/cabot-search huggingface dataset:
Abstract 1837: Clinical diversity and tumor spectrum in Xeroderma Pigmentosum Brazilian patients
Authors: Karina M. Santiago, Mariana Maschietto, Filippo Pinto Vairo, Patricia Ashton-Prolla, Paula Medeiros, Silvia Regina Rogatto, Maria Isabel Waddington Achatz
Journal: Cancer Research (2011)

Abstract Xeroderma Pigmentosum (XP) is a rare autossomic recessive hereditary disorder in which normal ability to repair DNA damage caused by ultraviolet light (UV) is deficient due to the presence of mutations in nucleotide excision repair pathway genes (XPA, ERCC3, XPC, ERCC2, DDB, ERCC4 and ERCC5) or in POLH gene, responsible for the replication of damaged DNA on the leading strand. These different genetic alteration result in distict phenotypes classifified into eight genetic complementation sub groups, XP-A to XP-G and a variant group XP-V. Clinical characteristics of the syndrome include skin poikiloderma and eye hypersensibility to UV radiation. Carriers have an increased risk of early onset multiple cutaneous, mucocutaneous and ophthalmologic malignancies when compared with normal population. Occasionally neurological impairment is observed in certain variations of the syndrome. Given the paucity of specific literature data about the incidence and clinical profile of the disease in Brazilian population, this study was conducted to describe clinical diversity and tumor spectrum of XP syndrome in Brazilian population. Twenty-nine XP patients from 19 non-related families from Hospital A.C. Camargo (São Paulo, Brazil), Hospital Universitário Alcides Carneiro (Campina Grande, Paraíba) and Hospital de Clínicas de Porto Alegre (Rio Grande do Sul, Brazil). Data collection was performed after genetic counseling and signed informed consent. Clinical characteristics were obtained through medical ascertainment. The median age was 24 (4 to 61 years) in a predominant female population (19/29). Basal cell carcinomas (BCC) were the most frequent neoplasm, present in 86,20% (25/29) of all patients, with the occurrence of up to 60 BCCs in a same patient. Squamous cell carcinomas and melanoma were present in 66,7% and 37,5% respectively. Six patients developed the first malignant tumor before the age of six and four patients developed the first tumor in early adulthood. One male patient developed a diffuse gastric cancer at 50 years old. Visual impairment occurred in 45,83% of the patient. Despite the unknown frequency of affected patients, the Brazilian population of XP cases seems to be underestimated. Genetic counseling is fundamental to provide information to carriers and family members and enable preventive measurements. Citation Format: {Authors}. {Abstract title} [abstract]. In: Proceedings of the 102nd Annual Meeting of the American Association for Cancer Research; 2011 Apr 2-6; Orlando, FL. Philadelphia (PA): AACR; Cancer Res 2011;71(8 Suppl):Abstract nr 1837. doi:10.1158/1538-7445.AM2011-1837
Hepatitis C virus viremia and low platelet count: A study in a hepatitis B &amp; C endemic area in Taiwan
Authors: Chia-Yen Dai, Chi-Kung Ho, Jee-Fu Huang, Ming-Yen Hsieh, Nai-Jen Hou, Zu-Yau Lin, Shinn-Cherng Chen, Ming-Yuh Hsieh, Liang-Yen Wang, Wen-Yu Chang, Ming-Lung Yu, Wan-Long Chuang
Journal: Journal of Hepatology (2009)
Mixed malignant tumour of the lung.
Authors: C W Edwards, A M Saunders, F Collins
Journal: Thorax (1979)

A mixed malignant tumour of the lung intermediate in type between pulmonary blastoma and carcinosarcoma is described. The epithelial component consisted of squamous carcinoma, undifferentiated carcinoma, and clefts lined by bland epithelial cells. The supporting stroma was composed of pleomorphic sarcoma, fibrosarcoma, chondrosarcoma, osteosarcoma, and indeterminate mesenchymal tissue. The tumour was removed surgically, but the patient died postoperatively with rapidly developing multiple bony and soft tissue metastases. Subcutaneous metastases showed the appearnce of poorly differentiated pleomorphic sarcoma. Published reports of mixed malignant lung tumours are reviewed.
Genetic Variants in C5 and Poor Response to Eculizumab
Authors: Jun-ichi Nishimura, Masaki Yamamoto, Shin Hayashi, Kazuma Ohyashiki, Kiyoshi Ando, Andres L. Brodsky, Hideyoshi Noji, Kunio Kitamura, Tetsuya Eto, Toru Takahashi, Masayoshi Masuko, Takuro Matsumoto, Yuji Wano, Tsutomu Shichishima, Hirohiko Shibayama, Masakazu Hase, Lan Li, Krista Johnson, Alberto Lazarowski, Paul Tamburini, Johji Inazawa, Taroh Kinoshita, Yuzuru Kanakura
Journal: New England Journal of Medicine (2014)

Eculizumab is a humanized monoclonal antibody that targets complement protein C5 and inhibits terminal complement-mediated hemolysis associated with paroxysmal nocturnal hemoglobinuria (PNH). The molecular basis for the poor response to eculizumab in a small population of Japanese patients is unclear.We assessed the sequences of the gene encoding C5 in patients with PNH who had either a good or poor response to eculizumab. We also evaluated the functional properties of C5 as it was encoded in these patients.Of 345 Japanese patients with PNH who received eculizumab, 11 patients had a poor response. All 11 had a single missense C5 heterozygous mutation, c.2654G → A, which predicts the polymorphism p.Arg885His. The prevalence of this mutation among the patients with PNH (3.2%) was similar to that among healthy Japanese persons (3.5%). This polymorphism was also identified in a Han Chinese population. A patient in Argentina of Asian ancestry who had a poor response had a very similar mutation, c.2653C → T, which predicts p.Arg885Cys. Nonmutant and mutant C5 both caused hemolysis in vitro, but only nonmutant C5 bound to and was blocked by eculizumab. In vitro hemolysis due to nonmutant and mutant C5 was completely blocked with the use of N19-8, a monoclonal antibody that binds to a different site on C5 than does eculizumab.The functional capacity of C5 variants with mutations at Arg885, together with their failure to undergo blockade by eculizumab, account for the poor response to this agent in patients who carry these mutations. (Funded by Alexion Pharmaceuticals and the Ministry of Health, Labor, and Welfare of Japan.).
Hypokalemia in Leukemia
Authors: DAVID PRAGER
Journal: Annals of Internal Medicine (1977)

Comments1 January 1977Hypokalemia in LeukemiaDAVID PRAGER, M.D., F.A.C.P., JOHN RULE, M.D., HARRY KINTZI, M.D.DAVID PRAGER, M.D., F.A.C.P.Search for more papers by this author, JOHN RULE, M.D.Search for more papers by this author, HARRY KINTZI, M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-86-1-118_1 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptTo the editor: I am writing with regard to the comments made by Dr. Yeung and Dr. Trowbridge (1) on hypokalemia in the blastic crisis of chronic granulocytic leukemia.At present we have a 38-year-old male patient in the blastic phase of chronic myelogenous leukemia who has a persistent hypokalemia. The serum potassium usually ranges around 2.5 meq./litre. There is no significant difference between the serum and plasma potassium levels. The patient has not received any antibiotics. Therefore, this case lends further support to the statements by Drs. Yeung and Trowbridge that the hypokalemia, which has been associated with...Reference1. YEUNGTROWBRIDGE KA: Chronic granulocytic leukemia: hypokalemia in acute blastic crisis. Ann Intern Med 85:533-534, 1976 LinkGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: Department of Medicine Division of Hematology/Medical Oncology Allentown-Sacred Heart Hospital Center Allentown, Pa 18105 PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics 1 January 1977Volume 86, Issue 1Page: 118-118KeywordsAntibioticsBlood plasmaChronic myelogenous leukemiaPotassium Issue Published: 1 January 1977 PDF DownloadLoading ...
Fears that a rise in genetic testing will rule out insurance are "paranoia"
Authors: G. Watts
Journal: BMJ (1999)

Calming public fears and encouraging a more realistic perception of the impact of genetic testing were the themes of the first seminar organised by the newly formed UK Forum for Genetics and Insurance The meeting, held this week at the Royal Society, also heard about new prospects for the insurability of people with the gene for Huntington's disease.

Sir Leslie Turnberg, chairman of the forum, pointed out that much of the research going on in …
Just Deserts or Icing on the Cake? Addressing the Social Determinants of Health
Authors: Mark D. Fox, Michael R. Gomez, Ricky T. Munoz
Journal: The American Journal of Bioethics (2015)

Preda and Voigt (2015) raise the provocative question, “Why should we care about the social determinants of health?” Despite a careful, stepwise analysis of the implications and obligations arising...
Interaction of inhomogeneities of repolarization with anisotropic propagation in dog atria. A mechanism for both preventing and initiating reentry.
Authors: M S Spach, P C Dolber, J F Heidlage
Journal: Circulation Research (1989)

Having found the regional differences in right atrial action potentials shown in an accompanying article, we tested two seemingly paradoxical hypotheses: 1) The spatial pattern of repolarization provides a protective mechanism against reentry, and 2) repolarization inhomogeneities interact with anisotropic discontinuous propagation to produce reentry. Measurement of multidimensional refractory periods demonstrated an anisotropic distribution within large bundles with the longest refractory periods in the medial upper crista terminalis (sinus node area), a distribution similar to that of action potential durations. Also, discontinuities of repolarization were found at muscle bundle junctions. Early premature impulses originating in the sinus node area propagated throughout the right atrial preparations without conduction disturbances or reentry. Conversely, early premature impulses that originated at sites distal to the sinus node area resulted in localized conduction block at multiple sites, which frequently produced complex conduction changes and reentry. The critical nature of the site of origin of a premature impulse in initiating reentry was related to locations where the steepest repolarization gradients occurred: within anisotropic bundles in the direction of highest axial resistance (across fibers) and at muscle bundle junctions that represented localized discontinuities of axial resistance. The multiple conduction abnormalities at localized sites interacted to produce different types of reentry at a larger size scale (25 mm2 to several cm2). In each case, neither repolarization inhomogeneities (leading circle concept) nor anisotropic discontinuous propagation was the only "mechanism" involved. That is, reentry at a macroscopic size scale occurred as a result of a combined repolarization-anisotropic discontinuous propagation mechanism.
Ethics, commerce, and kidneys
Authors: A S Mohamed, N Velasco
Journal: BMJ (1991)

selective damage to specific cell populations has not occurred.Analysis of incorporated bromodeoxyuridine with monoclonal antibodies requires the DNA to be denatured (commonly by exposure to acid).Unfortunately, this step is inherently prone to error as it leads to considerable cell loss and possible damage to antigenic sites.Also, sensitivity to DNA denaturation varies across the cell cycle4for example, cells fixed in late S phase will have more denatured DNA.Our experience in colorectal tumour tissue has shown that labelling indices obtained with both flow cytometry and immunohistochemistry results in reproducible variations that are dependent on acid concentration.The intention of this letter is not to discourage the use of thymidine analogues in cell proliferation analysis but simply to make interested parties aware of the inherent caveats in this methodology.Advances in the clinical application of bromodeoxyuridine will depend on a closer investigation of these enigmas at a tissue specific level.The desire for data should not tempt us to explain the answers before we have asked the questions.
Recommendations for Reporting Clinical Trials
Authors: Susan Eastwood
Journal: Annals of Internal Medicine (1997)

Letters1 March 1997Recommendations for Reporting Clinical TrialsSusan Eastwood, ELS(D)Susan Eastwood, ELS(D)University of California, San Francisco, San Francisco, CA 94143Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-126-5-199703010-00022 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail IN RESPONSE:As correspondent for the Asilomar Working Group on Recommendations for Reporting of Clinical Trials in the Biomedical Literature, I would like to relay our appreciation of Dr. Marciniak's suggested additions to our checklist. Author, Article, and Disclosure InformationAffiliations: University of California, San Francisco, San Francisco, CA 94143 PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics 1 March 1997Volume 126, Issue 5Page: 411KeywordsClinical trial reporting Issue Published: 1 March 1997 CopyrightCopyright © 1997 by American College of Physicians. All Rights Reserved.PDF DownloadLoading ...
Trends in Suicide Ideation, Plans, Gestures, and Attempts in the United States, 1990-1992 to 2001-2003
Authors: Ronald C. Kessler, Patricia Berglund, Guilherme Borges, Matthew Nock, Philip S. Wang
Journal: JAMA (2005)

Little is known about trends in suicidal ideation, plans, gestures, or attempts or about their treatment. Such data are needed to guide and evaluate policies to reduce suicide-related behaviors.To analyze nationally representative trend data on suicidal ideation, plans, gestures, attempts, and their treatment.Data came from the 1990-1992 National Comorbidity Survey and the 2001-2003 National Comorbidity Survey Replication. These surveys asked identical questions to 9708 people aged 18 to 54 years about the past year's occurrence of suicidal ideation, plans, gestures, attempts, and treatment. Trends were evaluated by using pooled logistic regression analysis. Face-to-face interviews were administered in the homes of respondents, who were nationally representative samples of US English-speaking residents.Self-reports about suicide-related behaviors and treatment in the year before interview.No significant changes occurred between 1990-1992 and 2001-2003 in suicidal ideation (2.8% vs 3.3%; P = .43), plans (0.7% vs 1.0%; P = .15), gestures (0.3% vs 0.2%; P = .24), or attempts (0.4%-0.6%; P = .45), whereas conditional prevalence of plans among ideators increased significantly (from 19.6% to 28.6%; P = .04), and conditional prevalence of gestures among planners decreased significantly (from 21.4% to 6.4%; P = .003). Treatment increased dramatically among ideators who made a gesture (40.3% vs 92.8%) and among ideators who made an attempt (49.6% vs 79.0%).Despite a dramatic increase in treatment, no significant decrease occurred in suicidal thoughts, plans, gestures, or attempts in the United States during the 1990s. Continued efforts are needed to increase outreach to untreated individuals with suicidal ideation before the occurrence of attempts and to improve treatment effectiveness for such cases.
How many, how old, how soon?
Authors: K.-T. Khaw
Journal: BMJ (1999)

This article highlights the population projections for the UK to 2066 and their health implications. The changes in the demographic age structure of human populations have dual implications. Although they represent accomplishments in social and health development considering the fact that more individuals are able to live until old age, these changes also bring new demands that affect all aspects of society, including employment, taxation, pension, education, and health. Age specific population projections presented were obtained from the Office for National Statistics. It is projected that the total number of people aged 60 years and older will rise from 12 million in 2001 to 18.6 million in 2031 and the number of individuals suffering with chronic diseases and disabilities will see a three-fold increase. Although these projections rely on assumptions and are subject to some changes, it is made clear that the proportion of the population aged 65 and above will continue to increase substantially over the next decades. These population trends will have a large impact on the health and health care needs of the population. Thus, there is a need to develop and plan institutions and policies that address the demands of the aging population. Understanding and identification of the causes and prevention of conditions that could result to serious disabilities must be a high priority.
Operating theatre and equipment.
Authors: P Bewes
Journal: BMJ (1984)

Providing the minimum amount of essential equipment should take precedence over plans for elaborate hospital buildings in areas where resources are limited. A visually splendid hospital without a functioning autoclave or a bronchoscope is clearly a planning disaster. The architectural requirements of a district hospital operating theatre are not necessarily expensive,1 and local materials may be used for much of the building. Water is so basic to surgery, that it must be available readily and this must be borne in mind in the initial decision about where the hospital is to be situated. A hospital that depends on a piped water supply that is not under its own control is vulnerable to the vagaries of the urban water supply, which may totally disrupt surgical services for extended periods. Ideally the operating theatre should have a reasonably large water tank of its own to allow some flexibility when the main hospital tank is depleted for any reason.
Impaired adult myelination in the prefrontal cortex of socially isolated mice
Authors: Jia Liu, Karen Dietz, Jacqueline M DeLoyht, Xiomara Pedre, Dipti Kelkar, Jasbir Kaur, Vincent Vialou, Mary Kay Lobo, David M Dietz, Eric J Nestler, Jeffrey Dupree, Patrizia Casaccia
Journal: Nature Neuroscience (2012)
Soviet Hospital in Kathmandu
Authors: Joel J. Nobel
Journal: JAMA (1964)

INRECENT YEARS the Soviet aid program to the underdeveloped nations has paid increasing attention to medical care and hospital facilities. This is especially true in areas where the Russians feel they are competing with either the Western block countries or Communist China for the attentions and affections of impoverished peoples. Such a situation is found in the Himalayan mountain Kingdom of Nepal, which is a geographical buffer between India and Red China's Tibet. Medical care in this border nation rests unsteadily upon native Hindu Ayurvedic medicine, the remnants of a mystical Tibetan medical system, a series of small Western missionary hospitals, a few Western- or Indiantrained private practitioners, and the hospital and several outlying clinics of the government. Now a new Soviet 50-bed hospital has been added to this amalgam. Located in the capital city of Kathmandu not far from the King's Palace, the hospital was constructed as the
TCT-361 Gender-based Analysis of Everolimus-Eluting Stent Safety in the Bern-Rotterdam Cohort
Authors: Giulio Stefanini, Lorenz Räber, Michael Magro, Bindu Kalesan, Masanori Taniwaki, Cihan Simsek, Peter Wenaweser, Ron Van Domburg, Bernhard Meier, Peter Juni, Patrick Serruys, Stephan Windecker
Journal: Journal of the American College of Cardiology (2012)
Regulation of Angiogenesis and Matrix Remodeling by Localized, Matrix-Mediated Antisense Gene Delivery
Authors: Themis R. Kyriakides, Tristan Hartzel, Grace Huynh, Paul Bornstein
Journal: Molecular Therapy (2001)

Implantation of biomaterials, such as glucose sensors, leads to the formation of a poorly vascularized collagenous capsule that can lead to implant failure. This process, known as the foreign body reaction (FBR), develops in response to almost all biomaterials and consists of overlapping phases similar to those in wound healing. Implantation of porous biomaterials, such as polyvinyl alcohol sponges, also leads to granuloma formation within the interstices of the sponge prior to encapsulation by the FBR. We asked whether delivery of an antisense cDNA for the potent angiogenesis inhibitor thrombospondin (TSP) 2 would enhance blood vessel formation and alter collagen fibrillogenesis in the sponge granuloma and capsule. Collagen solutions were mixed with plasmid to generate gene-activated matrices (GAMs) and applied to biomaterials that were then implanted subcutaneously. Sustained expression of plasmid-encoded proteins was observed at 2 weeks and a month following implantation. In vivo delivery of plasmids, encoding either sense or antisense TSP2 cDNA, altered blood vessel formation and collagen deposition in TSP2-null and wild-type mice, respectively. Untreated implants, implanted next to GAM-treated implants, did not show exogenous gene expression and did not elicit altered responses, suggesting that gene delivery was limited to implant sites. This method of antisense DNA delivery has the potential to improve the performance and life span of implantable delivery devices and biosensors.
A CASE OF SEBORRHCEIC SYCOSIS WITH RECOVERY AFTER TONSILLECTOMY
Authors: NORMAN BURGESS
Journal: British Journal of Dermatology (1938)

Journal Article A CASE OF SEBORRHCEIC SYCOSIS WITH RECOVERY AFTER TONSILLECTOMY Get access NORMAN BURGESS, M.A., M.D., M.R.C.P. NORMAN BURGESS, M.A., M.D., M.R.C.P. Physician in Charge of the Skin‐Department, Bristol General Hospital Search for other works by this author on: Oxford Academic Google Scholar British Journal of Dermatology and Syphilis, Volume 50, Issue 6, 1 June 1938, Pages 311–313, https://doi.org/10.1111/j.1365-2133.1938.tb10566.x Published: 01 June 1938
The Corrected Orthogonal Electrocardiogram and Vectorcardiogram in 510 Normal Men (Frank Lead System)
Authors: HAROLD W. DRAPER, CATHERINE J. PEFFER, FRIEDEMANN W. STALLMANN, DAVID LITTMANN, HUBERT V. PIPBERGER
Journal: Circulation (1964)

Corrected orthogonal electrocardiographic records were taken from 510 normal male subjects. Their age ranged from 19 to 84 years. Data processing and analysis were performed by means of a digital computer. Measurements were taken from the three scalar orthogonal leads and from a variety of spatial vectors in a Cartesian reference frame. Main emphasis was put on series of instantaneous vectors of the QRS complex, the ST segment, and the T wave. In order to eliminate inter-individual variability in electrocardiographic wave durations, time normalization was applied by dividing QRS, ST, and T into equal parts in time. Results for instantaneous vectors were also obtained in absolute time at intervals of 0.01 second. In addition, time integrals, polar vectors, and Eigenvectors were determined for P, QRS, and T. Normal ranges were computed for both normally and abnormally distributed results.