tbuckley/cabot-search huggingface dataset:
Novel heterozygous missense mutation in the platelet glycoprotein Ibβ gene associated with isolated giant platelet disorder
Authors: Shinji Kunishima, Tomoki Naoe, Tadashi Kamiya, Hidehiko Saito
Journal: American Journal of Hematology (2001)

Abstract The glycoprotein (GP) Ib/IX/V complex plays an important role in primary hemostasis, serving as the platelet receptor for von Willebrand factor (vWF). Recent studies have shown that the phenotype caused by mutations in the subunits of the GPIb/IX complex spans a wide spectrum; from the normal phenotype, to isolated giant platelet disorders (GPD), and to the full‐blown bleeding disorder, the Bernard‐Soulier syndrome (BSS). We characterize here a novel missense mutation of the GPIbβ gene associated with isolated GPD. In the patient's platelets, the expression level of the GPIb/IX complex was moderately reduced compared with that of the GPIIb/IIIa complex, whereas the latter was expressed at higher levels than in a normal control. Immunoblot analysis showed normal electrophoretic mobility of GPIbα, GPIbβ, and GPIX. However, the amount of GPIbβ was approximately 66% of the normal value. DNA sequencing analysis revealed a novel heterozygous missense mutation in the GPIbβ gene that converts Arg (CGC) to Cys (TGC) at residue 17. Transient transfection studies demonstrated that mutant GPIbβ protein was not detected in transfected 293T cells. These findings indicated that null expression of the abnormal GPIbβ causes decreased expression of the complex and results in the GPD phenotype in the patient, and suggested that homozygosity of the mutation may lead to a BSS phenotype in vivo. Am. J. Hematol. 68:249–255, 2001. © 2001 Wiley‐Liss, Inc.
Combined Textbook of Obstetrics and Gynaecology
Authors: Jack E. Maidman
Journal: JAMA (1977)

The first edition of this text was published in 1923. In this, the ninth, the editors have attempted to compile a text that will act as a reference encompassing the entire range of obstetric and gynecologic practice anywhere in the world. It was intended as a basic text for the advanced undergraduate and trainee specialist as well as the practitioner in remote areas. The authors (predominantly trained in Scotland) and the text express the beliefs and practice of the Scottish medical schools. There are 43 chapters encompassing subjects ranging from human reproduction, sexuality, sexual difficulties, and sex education, to tropical obstetrics and tropical gynecology. New chapters have been added in genetics, blood coagulation, and fibrinolysis; immunology and incompatibility; risk to mother and child; sonar and x-rays in obstetrics and gynecology; tropical obstetrics and gynecology; termination of pregnancy; sexuality; sexual difficulties; and sex education. In addition, the chapter on labor has
Investigation of urinary tract infection in childhood.
Authors: L Jadresic, K Cartwright, N Cowie, B Witcombe, D Stevens
Journal: BMJ (1993)

OBJECTIVES--To determine the number of laboratory confirmed urinary tract infections in children and to ascertain general practitioners9 practices and attitudes towards their investigation and management. DESIGN--Prospective one year survey of urine specimens submitted for bacteriological investigation; review of radiology department records; questionnaire survey of general practitioners. SETTING--Gloucester health district. SUBJECTS--57,432 children aged &lt; 15 and 7143 children aged &lt; 2 registered with a general practice in Gloucester health district and their 195 general practitioners. RESULTS--4317 urine specimens were submitted from children aged &lt; 15, of which 563 from 442 children were culture positive. The rate (number/100 children/practice) of culture positive urine specimens in these children varied more than 10-fold between general practices, and this correlated closely with the rate of referral of urine specimens for investigation. A follow up specimen to check for clearance of infection was taken in 22% (125/563) of infections. Of the 821 specimens submitted from children aged &lt; 2, 103 from 89 children were positive. Of these children, 28 underwent radiological imaging. Most general practitioners would aim to obtain bacteriological confirmation of urinary tract infection on weekdays but only a minority said they would do so at weekends. They were apparently more likely to refer boys and younger children for renal tract imaging after a first urinary tract infection. CONCLUSIONS--Urinary tract infection in children was underdiagnosed, and after a confirmed infection only a minority of patients received renal tract imaging or microbiological follow up. Greater awareness of the importance of investigation and management of urinary tract infection in children is needed, and the practical difficulties faced by general practitioners must be resolved.
Detection of psychological distress in patients with psoriasis: low consensus between dermatologist and patient
Authors: H.L. RICHARDS, D.G. FORTUNE, A. WEIDMANN, S.K.T. SWEENEY, C.E.M. GRIFFITHS
Journal: British Journal of Dermatology (2004)

Journal Article Detection of psychological distress in patients with psoriasis: low consensus between dermatologist and patient Get access H.L. RICHARDS, H.L. RICHARDS Department of Behavioural MedicineThe Dermatology Centre, University of Manchester School of Medicine, Hope Hospital, Salford, Manchester M6 8HD, U.K Helen L.Richards. E‐mail: hrichard@fs1.ho.man.ac.uk Search for other works by this author on: Oxford Academic Google Scholar D.G. FORTUNE, D.G. FORTUNE Department of Behavioural Medicine Search for other works by this author on: Oxford Academic Google Scholar A. WEIDMANN, A. WEIDMANN Department of Behavioural MedicineThe Dermatology Centre, University of Manchester School of Medicine, Hope Hospital, Salford, Manchester M6 8HD, U.K Search for other works by this author on: Oxford Academic Google Scholar S.K.T. SWEENEY, S.K.T. SWEENEY Department of Behavioural MedicineThe Dermatology Centre, University of Manchester School of Medicine, Hope Hospital, Salford, Manchester M6 8HD, U.K Search for other works by this author on: Oxford Academic Google Scholar C.E.M. GRIFFITHS C.E.M. GRIFFITHS The Dermatology Centre, University of Manchester School of Medicine, Hope Hospital, Salford, Manchester M6 8HD, U.K Search for other works by this author on: Oxford Academic Google Scholar British Journal of Dermatology, Volume 151, Issue 6, 1 December 2004, Pages 1227–1233, https://doi.org/10.1111/j.1365-2133.2004.06221.x Published: 01 December 2004 Article history Accepted: 15 April 2004 Published: 01 December 2004
Fighting "terrorism" with torture
Authors: D. Summerfield
Journal: BMJ (2003)

In the middle ages in Europe torture drew distinction from its association with confessed truth, repentance, and salvation, yet by 1874 Victor Hugo could write “torture has ceased to exist.” But torture was always likely to outlive its obituarists, and Amnesty International has regularly recorded its use in more than half the nations on earth. Is “the war on terrorism” again legitimising torture as it was in the middle ages?

The accounts of torture victims are horrifying enough but at least these victims survived: Primo Levi reminded us in The Drowned and the Saved that the public record is denuded of the accounts of the drowned.1 In recent years, reflecting the authority imputed to instrumental reasoning and medical arguments, the anti-torture movement has publicised the physical or mental injuries that can result from torture. However, the ordinary citizen does not regard torture as repugnant because it may have medical consequences, but because its use (typically by the state against its own citizens) seems so extreme a violation of the collective values and morality that hold a social fabric together. Indeed the economist and Nobel laureate Amartya Sen points out that torture, political imprisonment, and assassinations seem more shocking and “wrong” than the failure of states to provide basic means …
Oral Anticoagulant Therapy for the Prevention of Stroke
Authors: William J. Powers
Journal: New England Journal of Medicine (2001)

This year in the United States, 450,000 people will have a first ischemic stroke.13 For these patients (including those receiving thrombolytic therapy), the primary therapeutic goals will be rehabilitation and the prevention of another stroke. The optimal preventive therapy should be determined on the basis of the results of randomized, controlled trials. Trials have demonstrated that selected patients with an ischemic stroke in the territory of a stenotic carotid artery have a lower risk of recurrence if they are treated with carotid endarterectomy, rather than with antiplatelet therapy.4 Patients with atrial fibrillation have a lower risk of recurrence with . . .
Early Reperfusion During Acute Myocardial Infarction Affects Ventricular Tachycardia Characteristics and the Chronic Electroanatomic and Histological Substrate
Authors: Adrianus P. Wijnmaalen, Martin J. Schalij, Jan H. von der Thüsen, Robert J.M. Klautz, Katja Zeppenfeld
Journal: Circulation (2010)

Reperfusion therapy during acute myocardial infarction results in myocardial salvage and improved ventricular function but may also influence the arrhythmogenic substrate for ventricular tachycardia (VT). This study used electroanatomic mapping and infarct histology to assess the impact of reperfusion on the substrate and on VT characteristics late after acute myocardial infarction.The study population consisted of 36 patients (32 men; age, 63+/-15 years) referred for treatment of VT 13+/-9 years after acute myocardial infarction. Fourteen patients with early reperfusion during acute myocardial infarction were compared with 22 nonreperfused patients. Spontaneous and induced VTs and the characteristics of electroanatomic voltage maps were analyzed. Twenty-seven patients were treated by radiofrequency catheter ablation. Ten patients (6 nonreperfused) were treated by ventricular restoration with intraoperative cryoablation in 9. During surgery, biopsies were obtained from the resected core of the infarct. VT cycle length of spontaneous and induced VTs was shorter in reperfused patients (reperfused, 299+/-52/270+/-58 ms; nonreperfused, 378+/-77/362+/-74 ms; P=0.01). An electroanatomic patchy scar pattern was present in 71% of reperfused and 14% of nonreperfused patients (P=0.004). The proportion of electroanatomic dense scar was smaller in reperfused patients (24+/-18% versus 45+/-21%; P=0.02). Histological assessment in 10 patients revealed thick layers of surviving myocardium in 75% of reperfused but in none of the nonreperfused patients.Scar size and pattern defined by electroanatomic mapping are different between VT patients with and without reperfusion during acute myocardial infarction. Less confluent electroanatomic scars match with thick layers of surviving myocardium on histology. Early reperfusion and less confluent electroanatomic scar are associated with faster VTs.
Survival Following Bacteremia With Resistant Organisms
Authors: Mark J. Shumate
Journal: JAMA (1996)

<h3>To the Editor.</h3> —In the article by Dr Leibovici and colleagues<sup>1</sup>concerning survival after an episode of bacteremia, one major characteristic of the study group was not addressed—the incidence of infection with resistant organisms. In the study, the appropriateness of empirical antibiotic therapy was based on whether the microorganism was later found to be susceptible to the antibiotic chosen. As such, resistant organisms would be found to be inappropriately treated, and the increased mortality found in patients inappropriately treated may actually reflect a higher mortality associated with resistant organisms. Without mention of the prevalence of resistant organisms, it is difficult to judge the actual appropriateness of empirical antibiotic therapy. Another finding of the study also could be made more meaningful with mention of the organisms' resistance patterns. That finding is the higher mortality associated with certain microorganisms such as<i>Staphylococcus aureus</i>or<i>Enterococcus</i>species. It would be interesting to
Mastocytosis: recent advances in defining the disease
Authors: K. Hartmann, B.M. Henz
Journal: British Journal of Dermatology (2001)

Mastocytosis is a rare disease characterized by a primary pathological increase in mast cells in different tissues, which may present in a variety of clinical patterns. Major advances have been made in recent years in the understanding of the pathogenesis of mastocytosis. This review is aimed at familiarizing dermatologists with these recent findings, and at exploring their possible implications for the diagnosis and treatment of the condition. The heterogeneous clinical presentation of mastocytosis is detailed with respect to the type of skin lesions, age at onset, family history, organ systems involved, associated haematological disorders and prognosis. Recent genetic findings also indicate different pathogenetic forms of mastocytosis, as adult patients and those with associated haematological diseases usually express activating mutations of the stem cell factor receptor c-kit, whereas most cases of childhood-onset and familial mastocytosis seem to lack these mutations. Despite the presence of c-kit mutations, patients with cutaneous lesions generally have a good prognosis, even when there is involvement of other organs. Some patients, particularly those with childhood-onset disease, experience spontaneous remission, mostly by puberty. c-kit mutations do not explain the initial cause of mastocytosis, and their prognostic significance is as yet unclarified, as is the pathogenesis in patients without the mutations. Furthermore, these novel findings have as yet not resulted in a more effective treatment of the cause of the disease, so that counselling, prevention of exposure to mast cell secretory stimuli, and symptomatic treatment remain the mainstays of current patient management.
Characterisation of left ventricular collagen in the rat
Authors: I. MEDUGORAC, R. JACOB
Journal: Cardiovascular Research (1983)

Collagen of the normal and hypertrophied rat left ventricle was successively extracted with neutral salt and dilute acid solutions, and pepsin digestion. The yield of dilute-acid soluble collagen was only 0.3 to 0.6% of total collagen; the solubility with neutral salt was even lower. Limited pepsin digestion permitted extraction of 50 to 65% of total collagen. The distribution of the various types of collagen molecules was analysed in pepsin-solubilised collagen in the presence of 3.6 mol . litre-1 urea with the aid of electrophoresis on polyacrylamide gels. In all samples of nonreduced and reduced left ventricular collagen of the rat, disc patterns of pepsin-soluble collagen revealed the occurrence of dimeric and trimeric components, as well as aggregates of higher molecular weight. Such observations suggest the presence of an extensive interchain and intermolecular cross-linking network. Electrophoretic analysis of nonreduced and reduced pepsin-solubilised collagen also revealed heterogeneity of left ventricular rat collagen due to its occurrence as a mixture of type I and type III collagen. The proportion of type I collagen molecule components was substantially higher than that of type III components in all investigated samples of rat left ventricular connective tissue. Postnatal growth, aging and myocardial hypertrophy may affect the ratio of type I to type III components.
Sex-specific differences in ventricular expression and function of parathyroid hormone-related peptide*1
Authors: C GROHE
Journal: Cardiovascular Research (2004)

Parathyroid hormone-related peptide (PTHrP) expression is modulated by estrogen. It is expressed in coronary endothelial cells and involved in the endothelium-dependent regulation of coronary resistance and cardiac function. In the present study, we hypothesized that endogenously synthesized and released PTHrP contributes to sex-specific differences in the regulation of cardiac function.The influence of sex on ventricular PTHrP expression in normotensive rats was determined via real-time PCR and immunoblot analysis. Sex-specific effects of exogenous PTHrP or endogenous released PTHrP were determined in vitro on isolated ventricular cardiomyocytes, Langendorff preparations on isolated hearts and in vivo using different agonistic or antagonistic PTHrP peptides.Ventricular expression of PTHrP was elevated in hearts from female rats compared to male counterparts. Addition of PTHrP(1-36) did not increase left ventricular function in hearts from either sex, but increased coronary flow in hearts from female rats significantly greater than in those from males. 5Ile-PTHrP(1-36), which was used to antagonize endogenously released PTHrP, reduced left ventricular function in females but not males in vitro and in vivo. Under conditions of increased endogenous PTHrP release, i.e. ischemia-reperfusion, antagonization of PTHrP significantly reduced post-ischemic recovery in hearts from females but not in those from males.Sex determines the ventricular expression of PTHrP mRNA and protein. The results indicate that PTHrP may improve cardiac function to a greater extent in women than in men following a brief period of ischemia.
Sensitization to Duck-Embryo Rabies Vaccine Produced by Prior Yellow-Fever Vaccination
Authors: Stephen C. Cowdrey
Journal: New England Journal of Medicine (1966)

RABIES vaccine derived from virus grown on Central-nervous-system tissue stimulates antibody formation against brain tissue as well as rabies. The resultant danger of inducing an isoallergic encephalomyelitis precluded utilization of such a vaccine in pre-exposure rabies prophylaxis. Since the development of avianized vaccines of chick-embryo and duck-embryo origin have practically eliminated the hazard of serious neurologic reactions1 pre-exposure vaccination has been proposed for persons encountering a substantial risk of rabies.2 , 3 Because of assignments to areas where rabies is highly endemic it is Peace Corps policy to immunize those being trained with rabies vaccine (duck embryo) before overseas departure.4 Kaiser et . . .
Effect of Coinfection with GB Virus C on Survival among Patients with HIV Infection
Authors: Jinhua Xiang, Sabina Wünschmann, Daniel J. Diekema, Donna Klinzman, Kevin D. Patrick, Sarah L. George, Jack T. Stapleton
Journal: New England Journal of Medicine (2001)

Previous studies have suggested that people with human immunodeficiency virus (HIV) infection who are coinfected with GB virus C (GBV-C, or hepatitis G virus) have delayed progression of HIV disease. GBV-C is related to hepatitis C virus but does not appear to cause liver disease.
Long-circulating perfluorooctyl bromide nanocapsules for tumor imaging by 19FMRI
Authors: Odile Diou, Nicolas Tsapis, Céline Giraudeau, Julien Valette, Claire Gueutin, Fanchon Bourasset, Sandrine Zanna, Christine Vauthier, Elias Fattal
Journal: Biomaterials (2012)
A polymorphism in the <i>TYMP</i> gene is associated with the outcome of HLA‐identical sibling allogeneic stem cell transplantation
Authors: Vicent Guillem, Juan Carlos Hernández‐Boluda, David Gallardo, Ismael Buño, Anna Bosch, Carolina Martínez‐Laperche, Rafael de la Cámara, Salut Brunet, Carmen Martin, José B. Nieto, Carmen Martínez, Ariadna Pérez, Juan Montoro, Ana Garcia‐Noblejas, Carlos Solano
Journal: American Journal of Hematology (2013)

Thymidine phosphorylase (TYMP), an enzyme involved in nucleotide synthesis, has been implicated in critical biological processes such as DNA replication, protection against mutations, and tissue repair. In this work, we retrospectively evaluated the influence of a polymorphism in the TYMP gene (rs112723255; G/A) upon the outcome of 448 patients subjected to allogeneic stem cell transplantation (allo-SCT) from an human leukocyte antigen (HLA)-identical sibling donor. The TYMP genotype of patients correlated with overall survival-carriers of the minor allele (A) being at an increased risk of dying after transplantation (hazard ratio, HR = 1.9; P = 0.004). This effect was mostly due to differences in transplant toxicity-related mortality (HR = 2.5; P = 0.029). In addition, the TYMP genotype of donors was associated with the risk of chronic graft-versus-host disease (GVHD)-carriers of the minor allele being at an increased risk of developing this complication ([HR] = 1.7; P = 0.039). The impact of such polymorphism on the risk of chronic GVHD is limited to patients transplanted in early stage disease (HR = 2.2; P = 0.019). The combination of a donor harboring the minor allele with a patient homozygous for the major allele was associated with the highest risk of chronic GVHD (HR = 2.8; P = 0.008). These findings provide the first evidence of the significant impact of the TYMP genotype upon the clinical outcome of patients treated with HLA-identical sibling allo-SCT.
IMPACT OF TIME OF PRESENTATION ON QUALITY MEASURES AND REPERFUSION TIMES IN ST SEGMENT ELEVATION MYOCARDIAL INFARCTION (STEMI). A REPORT FROM NATIONAL CARDIOVASCULAR DATA REGISTRY (NCDR)-THE ACUTE CORONARY TREATMENT AND INTERVENTION OUTCOMES NETWORK (ACTION) REGISTRY&amp;reg;-GET WITH THE GUIDELINES (GWTG) (TM) AND MISSION LIFELINE INITIATIVE
Authors: Tarun W. Dasari, Matthew Roe, Robert Giugliano, Anita Y. Chen, Jorge Saucedo
Journal: Journal of the American College of Cardiology (2012)
Plasma levels and redox status of ascorbic acid and levels of lipid peroxidation products in active and passive smokers.
Authors: M Ayaori, T Hisada, M Suzukawa, H Yoshida, M Nishiwaki, T Ito, K Nakajima, K Higashi, A Yonemura, F Ohsuzu, T Ishikawa, H Nakamura
Journal: Environmental Health Perspectives (2000)

Both active and passive smoking are regarded as risk factors for various diseases. To clarify the effects of active and passive smoking on plasma vitamin C levels and lipid peroxidation status, we examined the plasma levels of ascorbic acid (AA), its redox status [ratio of dehydroascorbate (DHAA) to total AA], the levels of thiobarbiturate reactive substance (TBARS), and the levels of lipid peroxides (LPO) in smokers, nonsmokers, and nonsmokers regularly exposed to environmental cigarette smoke (passive smokers). The study population consisted of 149 healthy males: 75 active smokers (consumption of > 15 cigarettes/day for more than 5 years), 36 passive smokers (more than 10 hr/week exposure to environmental cigarette smoke), and 38 nonsmokers (no cigarette smoke exposure). There were no significant differences in plasma TBARS and LPO levels among the three groups. Plasma levels of AA, the reduced form of vitamin C, were significantly lower in active smokers than in the combined nonsmoking groups (7.2 +/- 3.5 and 8.4 +/- 3.4 microg/mL, respectively; p < 0.05). Although no significant differences were found in plasma DHAA levels among the three groups, the ratios of DHAA to total AA were significantly higher in active and passive smokers than nonexposed nonsmokers (11.2, 10.3, and 7.1%, respectively; p < 0.05). These results indicate that passive smoking, as well as direct inhalation of cigarette smoke, affects the redox status of plasma AA. In passive smokers, the altered redox status of plasma AA suggests an oxidative stress.
Diabetes, hypertension, and cardiovascular events in survivors of hematopoietic cell transplantation: a report from the bone marrow transplantation survivor study
Authors: K. Scott Baker, Kirsten K. Ness, Julia Steinberger, Andrea Carter, Liton Francisco, Linda J. Burns, Charles Sklar, Stephen Forman, Daniel Weisdorf, James G. Gurney, Smita Bhatia
Journal: Blood (2006)