tbuckley/cabot-search huggingface dataset:
Reduced Penetrance, Variable Expressivity, and Genetic Heterogeneity of Familial Atrial Septal Defects
Authors: D. Woodrow Benson, Angela Sharkey, Diane Fatkin, Peter Lang, Craig T. Basson, Barbara McDonough, Arnold W. Strauss, J. G. Seidman, Christine E. Seidman
Journal: Circulation (1998)

Background —Secundum atrial septal defect (ASD) is a common congenital heart malformation that occurs as an isolated anomaly in 10% of individuals with congenital heart disease. Although some embryological pathways have been elucidated, the molecular etiologies of ASD are not fully understood. Most cases of ASD are isolated, but some individuals with ASD have a family history of this defect or other congenital heart malformations. Methods and Results —Clinical evaluation of three families identified individuals with ASD in multiple generations. ASD was transmitted as an autosomal dominant trait in each family. ASD was the most common anomaly, but other heart defects occurred alone or in association with ASD in individuals from each kindred. Genome-wide linkage studies in one kindred localized a familial ASD disease gene to chromosome 5p (multipoint LOD score=3.6, θ=0.0). Assessment of 20 family members with the disease haplotype revealed that 9 had ASD, 8 were clinically unaffected, and 3 had other cardiac defects (aortic stenosis, atrial septal aneurysm, and persistent left superior vena cava). Familial ASD did not map to chromosome 5p in two other families. Conclusions —Familial ASD is a genetically heterogeneous disorder; one disease gene maps to chromosome 5p. Recognition of the heritable basis of familial ASD is complicated by low disease penetrance and variable expressivity. Identification of ASD or other congenital heart defects in more than one family member should prompt clinical evaluation of all relatives.
Renal Impairment in Patients With Multiple Myeloma: A Consensus Statement on Behalf of the International Myeloma Working Group
Authors: Meletios A. Dimopoulos, Evangelos Terpos, Asher Chanan-Khan, Nelson Leung, Heinz Ludwig, Sundar Jagannath, Ruben Niesvizky, Sergio Giralt, Jean-Paul Fermand, Joan Bladé, Raymond L. Comenzo, Orhan Sezer, Antonio Palumbo, Jean-Luc Harousseau, Paul G. Richardson, Bart Barlogie, Kenneth C. Anderson, Pieter Sonneveld, Patrizia Tosi, Michele Cavo, S. Vincent Rajkumar, Brian G.M. Durie, Jésus San Miguel
Journal: Journal of Clinical Oncology (2010)

Renal impairment is a common complication of multiple myeloma (MM). The estimated glomerular filtration rate (eGFR) using the Modification of Diet in Renal Disease formula is the recommended method for the assessment of renal function in patients with MM with stabilized serum creatinine. In acute renal injury, the RIFLE (risk, injury, failure, loss and end-stage kidney disease) and Acute Renal Injury Network criteria seem to be appropriate to define the severity of renal impairment. Novel criteria based on eGFR measurements are recommended for the definition of the reversibility of renal impairment. Rapid intervention to reverse renal dysfunction is critical for the management of these patients, especially for those with light chain cast nephropathy. Bortezomib with high-dose dexamethasone is considered as the treatment of choice for such patients. There is limited experience with thalidomide in patients with myeloma with renal impairment. Thus, thalidomide can be carefully administered, mainly in the context of well-designed clinical trials, to evaluate if it can improve the rapidity and probability of response that is produced by the combination with bortezomib and high-dose dexamethasone. Lenalidomide is effective in this setting and can reverse renal insufficiency in a significant subset of patients, when it is given at reduced doses, according to renal function. The role of plasma exchange in patients with suspected light chain cast nephropathy and renal impairment is controversial. High-dose melphalan (140 mg/m(2)) and autologous stem-cell transplantation should be limited to younger patients with chemosensitive disease.
A Violence Prevention Curriculum-Reply
Authors: David Grossman
Journal: JAMA (1997)

In Reply.  —Drs Green and Wintfeld appear to have several misunderstandings regarding our study. First, the use of the phrase violence prevention  is one that the authors of the curriculum coined. Our study purposes were clear: to determine the effect of the curriculum on some precursors to violence, especially physically  and aggressive behavior. Our behavioral observers were trained to score physically aggressive behavior at 2 different levels of intensity. The lower intensity level was called negative physical/nonverbal and included acts such as object struggles, personal property damage, physical threats, aversive physically threatening gestures, physical pestering with protest, and minor physical contact such as shoving and pushing. The higher level of intensity involved violent attacks with body or object.1  Green and Wintfeld's concern regarding whether our study was a randomized controlled trial merits further discussion. The randomized community trial, in which intact social groups are allocated at random to intervention
Multiply-Resistant Enterococcus faecium
Authors: Richard V. Spera
Journal: JAMA (1992)

IN THE PAST 10 years, the microbiology of nosocomial infections has changed considerably. Hospital-acquired infections due to enteric gram-negative bacilli have decreased in incidence, while those due to gram-positive organisms and fungi have increased. Between 1986 and 1989, enterococci comprised 12% of nosocomial infections, second only to<i>Escherichia coli</i>in incidence.<sup>1</sup> Enterococci are less susceptible to penicillin than are related streptococci. This difference is thought to be due to the production of penicillin-binding proteins that have lower affinities for penicillin than do those of streptococci.<sup>2</sup>Recently, β-lactamase—producing enterococci have also been described as important nosocomial pathogens.<sup>3,4</sup> Enterococci are intrinsically resistant to clinically useful levels of aminoglycosides. However, when used in conjunction with penicillins, synergistic bactericidal activity has been demonstrated in vitro. In the past two decades, high-level aminoglycoside resistance, first to streptomycin and later to gentamicin, has occurred with increasing frequency. From 1981 to 1989, the incidence
Reflex Venomotor Activity in Normal Persons and in Patients with Postural Hypotension
Authors: E. B. PAGE, J. B. HICKAM, H. O. SIEKER, H. D. MCINTOSH, W. W. PRYOR
Journal: Circulation (1955)

Reflex venomotor activity has been observed and measured in normal subjects by means of the pressures developed within isolated segments of superficial veins. Strong contractions are caused by the Valsalva maneuver, tilting, cold, exercise, and hyperventilation. After the Valsalva and after tilting there is a brief elevation of central venous pressure. Pulmonary vascular pressures are also increased after the Valsalva. This is taken to indicate a widespread venoconstriction with central shifting of blood. Persons with postural hypotension show little or no segment or central venous pressure response to these stimuli, indicating impaired reflex venomotor activity.
How to absorb the reforms without changing your core values
Authors: J. Smith
Journal: BMJ (1994)

Contrary to what politicians think, the opposition of doctors to government reforms (see p 000) may not be due to an objection to relinquishing power. A more enlightening explanation is that it owes more to their desire to protect their core values against the onslaught of an untested economic model of public services.

This explanation comes from an analysis of the effects of changes in public sector management on general practices and schools by two researchers from the University of Sheffield Management School. At a King's Fund seminar in London last week Richard Laughlin and Jane Broadbent (both accountants turned sociologists) outlined their findings from six general practices.

Laughlin and Broadbent see the NHS reforms as part of the “financial management initiative” that the British government has been attempting since the early 1980s. …
Cancer and occupation in women: identifying associations using routinely collected national data.
Authors: L Carpenter, E Roman
Journal: Environmental Health Perspectives (1999)

Some potentially important findings from an analysis of 119,227 cancers registered in women in England over the 7-year period 1981 to 1987 are discussed. Data are presented for four cancer sites with established occupational etiologies (bladder, pleura, lung, larynx), three occupational groups in which women predominate (teachers, nurses, barstaff), and the main female cancers of the reproductive system (breast, uterus, cervix, ovary). Excesses of bladder cancer in female rubber workers (proportional registration ratio [PRR] 350, 95% confidence interval [CI] 141-723), pleural cancer in female carpenters (PRR 1596, 95% CI 329-4665) and lung cancer in female construction workers (PRR 269, 95% CI 154-437) and barstaff (PRR 138, 95%CI 124-156) are noted. It is concluded that analyses of routinely collected data on cancer and occupation in women have the potential to provide valuable pointers for further research.
Acid optimum kininogenases in canine myocardium and aorta
Authors: M J Moshi, I J Zeitlin, C L Wainwright, J R Parratt
Journal: Cardiovascular Research (1992)

Journal Article Acid optimum kininogenases in canine myocardium and aorta Get access M J Moshi, M J Moshi Department of Physiology and Pharmacology, University of Strathclyde, George Street, Glasgow Gl IXW, United Kingdom Search for other works by this author on: Oxford Academic PubMed Google Scholar I J Zeitlin, I J Zeitlin Department of Physiology and Pharmacology, University of Strathclyde, George Street, Glasgow Gl IXW, United Kingdom Search for other works by this author on: Oxford Academic PubMed Google Scholar C L Wainwright, C L Wainwright Department of Physiology and Pharmacology, University of Strathclyde, George Street, Glasgow Gl IXW, United Kingdom Search for other works by this author on: Oxford Academic PubMed Google Scholar J R Parratt J R Parratt Department of Physiology and Pharmacology, University of Strathclyde, George Street, Glasgow Gl IXW, United Kingdom Search for other works by this author on: Oxford Academic PubMed Google Scholar Cardiovascular Research, Volume 26, Issue 4, April 1992, Pages 367–370, https://doi.org/10.1093/cvr/26.4.367 Published: 01 April 1992 Article history Received: 21 June 1991 Accepted: 18 November 1991 Published: 01 April 1992
Quantitative distribution of immunoglobulin-producing cells in gastric mucosa: relation to chronic gastritis and glandular atrophy.
Authors: K Valnes, P Brandtzaeg, K Elgjo, R Stave
Journal: Gut (1986)

Immunoglobulin (Ig)-producing immunocytes were quantified by paired immunofluorescence staining in specimens of gastric antral (n = 52) and body (n = 117) mucosa obtained from 45 patients with various gastrointestinal disorders. Enumerations were carried out in a 500 micron wide zone from the muscularis mucosae to the lumen (9tissue unit9). The specimens were divided into three categories according to the degree of inflammation, and each specimen received a grade for atrophy (0-2). The total number of IgA-, IgM- and IgG-producing cells per tissue unit increased strikingly with increasing degree of inflammation, both in antral and body mucosa. IgA immunocytes predominated (61-91%) in all specimens, but the IgG isotype showed the largest relative increase (four to 17-fold), particularly in the basal part of the mucosa. In this layer of the gastric body the proportion of IgG cells was also significantly raised in association with atrophy, irrespective of degree of inflammation. Locally produced IgG may be of protective significance in terms of internal (or 9second line9) defence but may at the same time maintain immunopathological mechanisms contributing to the chronicity of gastritis.
AIDS-related Kaposi's sarcoma in a heterosexual female
Authors: C. B. KO, S. WALTON, K. KECZKES, M. GREENSTONE, H.P.R. BURY
Journal: British Journal of Dermatology (1992)

Journal Article AIDS‐related Kaposi's sarcoma in a heterosexual female Get access C. B. KO, C. B. KO Departments of Dermatology, Hull Royal Infirmary, Hull, U.K. Search for other works by this author on: Oxford Academic Google Scholar S. WALTON, S. WALTON Departments of Dermatology, Hull Royal Infirmary, Hull, U.K. Search for other works by this author on: Oxford Academic Google Scholar K. KECZKES, K. KECZKES Departments of Dermatology, Hull Royal Infirmary, Hull, U.K. Dr K.Keczkes, Department of Dermatology, Hull Royal Infirmary, Anlaby Road, Hull HU3 2JZ, U.K. Search for other works by this author on: Oxford Academic Google Scholar M. GREENSTONE, M. GREENSTONE Chest Medicine, Hull Royal Infirmary, Hull, U.K. Search for other works by this author on: Oxford Academic Google Scholar H.P.R. BURY H.P.R. BURY Department of Histopathology, Castle Hill Hospital, Hull, U.K. Search for other works by this author on: Oxford Academic Google Scholar British Journal of Dermatology, Volume 126, Issue 1, 1 January 1992, Pages 74–76, https://doi.org/10.1111/j.1365-2133.1992.tb08408.x Published: 01 January 1992
Bean in Peritoneal Cavity
Authors: F. Stacpoole-Ryding
Journal: BMJ (1956)

<b>Background:</b> Regular exercise improves psychological and physiological functioning in patients with COPD; and exercise self-regulatory efficacy (Ex-SRE) has been shown to be important for adherence to regular exercise. However, a valid and reliable instrument to measure exercise self-regulatory efficacy in Chinese patients with COPD is lacking. <b>Purpose:</b> The purpose of this study is to determine semantic equivalenceand preliminary test the psychometric properties of a Chinese version of Self-Regulatory Efficacy Scale(Ex-SRES-Chinese). <b>Methods:</b> The Ex-SRES-Chinese was established through Beaton et al.9s recommended guidelines. The reliability and validity of the determined Ex-SRES-Chinese was tested on a group of patients with COPD (n = 76) in Taiwan. <b>Results:</b> The rigorous translation and appraisal process were repeated to translate and culturally adapt Ex-SRES into Chinese, until semantic equivalence of each question between English and Chinese was agreedand accepted by an advisory committee. The overall content validity index of determined Ex-SRES-Chinese was 0.875. The Ex-SRES-Chinese demonstrated excellent internal reliability (Cronbach9s alpha 0.92) and construct validity (correlation with weekly exercise time [<i>r</i> = 0.67; <i>P</i> &lt;0.0001] and past exercise experience [<i>r</i> = 0.29; <i>P</i> &lt; 0.01]). After control the age and disease severity, Ex-SRES-Chinese was positively associated with exercise tolerance (six-minute walk distance, 6MWD) (<i>r</i> = 0.26; <i>P</i> &lt; 0.05). <b>Conclusion:</b> The Ex-SRES-Chinese demonstrated excellent semantic equivalency and initial psychometric properties, and is a short, easily administrated exercise self-regulatory efficacy measure.
Sudden Death and Lingering Hope
Authors: Samuel Vaisrub
Journal: JAMA (1976)

Given a choice, most of us would prefer instantaneous death to a protracted, lingering mode of dying. Yet, much current research is directed toward preventing sudden death. This seeming paradox is easily explained by the prevailing belief that sudden unexpected death is the result of ventricular fibrillation originating in a heart that, although somewhat damaged, may be well worth saving. If only the electrical instability of the myocardium could be controlled so that the lethal arrhythmia is abolished or prevented, the heart would function normally. Sudden death is thus more akin to accidental than to "natural" death and is therefore more amenable to preventive measures. Support for this optimistic outlook stems from the experience in coronary care units with records of successful resuscitation and subsequent rehabilitation.<sup>1</sup>The optimism is further reinforced by the observation that ventricular fibrillation is usually preceded over a period of hours, days, or weeks by
Dose adjustment in renal impairment: Response from the <i>British National Formulary</i>
Authors: Dinesh K Mehta
Journal: BMJ (2005)

EDITOR—Vidal et al are rightly concerned that information on dose adjustment is not as well supported by evidence as our knowledge about the effectiveness of modern interventions (p 263). 1 But, as they have found, the lack of robust data to guide clinicians on the precautions to take when using drugs is woeful. Therefore, their conclusions come as no surprise to compilers of drug information.

Because there are few accessible studies on dose adjustment in renal impairment, the British National Formulary ( BNF ) has to rely on summaries of product characteristics, which reflect data submitted for gaining marketing …
Achilles Reflex Test
Authors: Norman O. Rothermich
Journal: JAMA (1967)

To the Editor:—  The article Observations of the Achilles Reflex Test by Reinfrank et al (199:1, 1967) was extremely interesting, and your editorial comments on the article are very pertinent and well taken.  I am intrigued by the amazing recovery of the Achilles reflex in a  after he has been subjected to carbohydrate control. I wonder if the authors of the article would have any explanation of the changes in neurophysiology which permit this. Surely the atherosclerosis of the vasa nervorum is not going to be altered (if the explanation is diabetic peripheral neuropathy).  I would certainly agree that the drawback to the test as mentioned by Reinfrank and his group can be a blessing in disguise if it would help to detect unsuspected cases of diabetes.
Herpes simplex virus esophagitis in an immunodeficient patient with non-small-cell lung cancer following a disseminated herpes zoster infection
Authors: F. Gundling, H. Rohrbach, A. Nerlich, W. Schepp
Journal: Endoscopy (2008)

Herpes simplex virus (HSV) esophagitis is rare. It usually occurs in the setting of immunodeficiency, for example in patients with malignancy [1], patients on immunosuppressive therapy [2], or patients with AIDS [3].
Glycemic Targets and Cardiovascular Disease
Authors: William T. Cefalu
Journal: New England Journal of Medicine (2008)

Cardiovascular disease in patients with diabetes is clearly associated with the degree of hyperglycemia, as measured clinically with the use of glycated hemoglobin.13 However, there remains an unanswered question in diabetes management: Does the targeting of near normal levels of glycated hemoglobin reduce the rate of cardiovascular events? Randomized clinical trials that address this question are ongoing.In this issue of the Journal, results are presented from two recently completed multicenter clinical trials, the ACCORD (Action to Control Cardiovascular Risk in Diabetes) trial (ClinicalTrials.gov number, NCT00000620)4 and the ADVANCE (Action in Diabetes and Vascular Disease: Preterax and Diamicron Modified . . .
Breast cancer and renal insufficiency.
Authors: H Wildiers, N Janus, E Byloos, J Machiels, L Duck, J Kerger, W Wynendaele, J Canon, W Lybaert, J Nortier, G Deray, V Launay-Vacher
Journal: Cancer Research (2009)

Abstract Abstract #6086 Background:&amp;#x2028; The Belgian IRMA study (Renal Insufficiency and Anticancer Medications) reported the high prevalence of renal insufficiency (RI) in 1208 cancer patients, with a glomerular filtration rate (GFR) &amp;lt;90 ml/min for 64%. Furthermore, 78.1% were receiving potentially nephrotoxic drugs and 78.8% drugs necessitating dosage adjustment in case of renal dysfunction. We present here the results for the 510 BIRMA patients with breast cancer.&amp;#x2028; Methods:&amp;#x2028; Data were collected for patients presenting at one of the 7 BIRMA centers in March 2006: tumor, sex, age, weight, height, serum creatinine (SCR), bone metastasis (BM) and anticancer drugs (including dose modification). Glomerular Filtration Rate (GFR) was estimated by the aMDRD formula.&amp;#x2028; Results:&amp;#x2028; 510 breast cancer patients were included: mean age 58.7 years, weight 68.1 kg, height 161.6 cm, 4 men, 46.9% of patients had BM. The prevalence of elevated SCR (&amp;gt;=1.2 mg/dL) was 7.3%, of GFR&amp;lt;90 ml/min/1.73m² 67.8%, and of GFR&amp;lt;60 (threshold for many anticancer drugs to consider dose modification) 15.9% (Table). 86.6% of treated patients (n=486) were receiving at least one drug needing dosage adjustment in case of renal dysfunction and 73.4% received at least one potentially nephrotoxic drug. Furthermore, the prevalence of GFR&amp;lt;90/60 was 74.9/24.3% for breast cancer patients with BM (Table). When comparing the prevalence of GFR&amp;lt;90 between patients with or without BM (for patients with available GFR), the frequency of RI was significantly higher for BM patients (78.9 vs 69.9%, p=0.03).&amp;#x2028; Conclusions:&amp;#x2028; The results of the BIRMA study showed that RI is highly frequent in breast cancer patients in Belgium and that nearly 94% of the patients receive potentially nephrotoxic drugs and/or drugs for which dosage must be adjusted in RI. Furthermore, patients with BM had a higher rate of RI than patients without. These frequencies are higher compared to data from the NHANES study in the US general population, especially for breast cancer patients with a stage 3 RI for whom SCR was normal in 55.7% of the cases. This underlines that estimating renal function with formulae such as aMDRD is mandatory in every breast cancer patient, even when SCR is within the normal range.&amp;#x2028; &amp;#x2028; Citation Information: Cancer Res 2009;69(2 Suppl):Abstract nr 6086.
Acute Pulmonary Edema and Myocardial Infarction
Authors: Daniel D. Buff
Journal: Annals of Internal Medicine (1988)

Letters and Corrections1 August 1988Acute Pulmonary Edema and Myocardial InfarctionDaniel D. Buff, MD, Mahnaz Behboodikhah, MDDaniel D. Buff, MDSearch for more papers by this author, Mahnaz Behboodikhah, MDSearch for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-109-3-247_1 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptTo the editor: When a newly admitted patient with acute pulmonary edema was presented on a recent cardiology round, someone asked, "What percentage of patients with acute pulmonary edema have had an acute myocardial infarction?" The question was important because, although the condition of our patient had improved, and from a hemodynamic standpoint, the patient could be moved to a general medical floor, further monitoring in the coronary care unit would be needed if a myocardial infarction had occurred.A literature search on this subject was interesting. As expected, we found many articles on acute pulmonary edema as a complication...References1. . Risk stratification and survival after myocardial infarction. N Engl J Med. 1983;309:331-6. CrossrefMedlineGoogle Scholar2. ShahMaddahiStaniloff PJH. Variable spectrum and prognostic implication of left and right ventricular ejection fraction in patients with and without clinical heart failure after acute myocardial infarction. Am J Cardiol. 1986;58:387-93. CrossrefMedlineGoogle Scholar3. PlotnickKelemenGarrettRandallFisher GMRWM. Acute cardiogenic pulmonary edema in the elderly: factors predicting inhospital and one-year mortality. South Med J. 1982;75:565-9. CrossrefMedlineGoogle Scholar4. GoldbergerPeledStrohCohenFrishman JHJMW. Prognostic factors in acute pulmonary edema. Arch Intern Med. 1986;146:489-93. CrossrefMedlineGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: Booth Memorial Medical Center Flushing, NY 11355 PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byAcute Myocardial InfarctionSystolic blood pressure as a prognostic factor in acute pulmonary edema 1 August 1988Volume 109, Issue 3Page: 247-247KeywordsAcute myocardial infarctionCardiac care unitEdemaHemodynamicsMyocardial infarction Issue Published: 1 August 1988 PDF downloadLoading ...