tbuckley/cabot-search huggingface dataset:
Abstract LB-82: Chromosome 1q gain as genetic marker for risk stratification of pediatric ependymoma patients - validation as an adverse prognostic marker in the German multicenter HIT2000 trial.
Authors: Torsten Pietsch, Evelyn Doerner, Anja zur Muehlen, Natalia Velez-Char, Monika Warmuth-Metz, Rolf-Dieter Kortmann, Katja von Hoff, Carsten Friedrich, Stefan Rutkowski, Andre O. von Bueren
Journal: Cancer Research (2013)

Abstract In contrast to histopathological grading which varied in respect to its prognostic value between different clinical trials, extent of resection was found to be consistently associated to the clinical outcome. In retrospective series, gain of genetic material of chromosome arm 1q was identified to predict worse outcome. This marker was mainly assessed by FISH analysis which typically showed failure rates of 15-20 % in archival material. To validate this marker in a homogenously treated patient cohort, we analysed chromosome 1qin 209 consecutive cases enrolled into the multicenter trial HIT2000 (postoperative chemotherapy and irradiation, in a sequence depending on age and extent of resection) in which formalin-fixed, paraffin embedded material was available for DNA extraction. By using multiplex ligation-dependent probe amplification (MLPA) for 5 markers located on chromosome 1q and control markers, we were able to analyse 206/209 samples (&amp;gt; 98 %) and found a gain of chromosome 1q in 35 cases (17 %). 135/206 ependymomas were located in the infratentorial region. 35 cases were diagnosed as WHO grade II ependymoma, 171 as anaplastic ependymoma (WHO grade III). Interestingly, only 2 of the 35 WHO grade II ependymomas had 1q gain (5.7%). At a median follow-up of 3.9 years for survivors, patients with tumors showing 1q gain had a significantly lower 4-year overall survival (OS) (±SE) of 58% +/- 9% compared to patients lacking this marker (89% +/- 3%, p=0.002). The distribution of this marker was similar when comparing patients with supra- and infratentorial tumors. Multivariable analysis demonstrated that residual tumor and infratentorial localization were independent risk factors for event-free survival, and gain of chromosome 1q for OS, respectively. In conclusion, we validated chromosomal 1q gain to be a useful independent genetic marker for risk stratification of pediatric ependymoma patients which can be evaluated by MLPA representing a robust, reliable and cost-efficient method. Citation Format: Torsten Pietsch, Evelyn Doerner, Anja zur Muehlen, Natalia Velez-Char, Monika Warmuth-Metz, Rolf-Dieter Kortmann, Katja von Hoff, Carsten Friedrich, Stefan Rutkowski, Andre O. von Bueren. Chromosome 1q gain as genetic marker for risk stratification of pediatric ependymoma patients - validation as an adverse prognostic marker in the German multicenter HIT2000 trial. [abstract]. In: Proceedings of the 104th Annual Meeting of the American Association for Cancer Research; 2013 Apr 6-10; Washington, DC. Philadelphia (PA): AACR; Cancer Res 2013;73(8 Suppl):Abstract nr LB-82. doi:10.1158/1538-7445.AM2013-LB-82
Sex-specific action of insulin to acutely increase the metabolic clearance rate of dehydroepiandrosterone in humans.
Authors: J E Nestler, Z Kahwash
Journal: Journal of Clinical Investigation (1994)

To test the hypothesis that insulin acutely enhances the metabolic clearance rate (MCR) of dehydroepiandrosterone in humans, the effect of a short-term insulin infusion on the MCR of dehydroepiandrosterone was assessed in 10 men and 7 women. After an overnight fast, dehydroepiandrosterone was infused at 3.47 mumol/h for 6.5 h. At 240 min, a hyperinsulinemic-euglycemic clamp was begun by infusing insulin at 21.5 pmol/kg per min for 2.5 h. MCR of dehydroepiandrosterone was calculated at baseline (210-240 min) and during the insulin infusion (360-390 min). A control study was conducted at least 1 wk later, in which 0.45% saline was substituted for the hyperinsulinemic-euglycemic clamp. During the insulin clamp study, serum insulin rose from 34 +/- 2 to 1084 +/- 136 pmol/liter (P = 0.0001) in men and from 40 +/- 5 to 1357 +/- 175 pmol/liter (P = 0.0003) in women, while serum glucose remained constant in both groups. MCR of dehydroepiandrosterone rose in men during the insulin infusion from 2443 +/- 409 to 3599 +/- 500 liters/24 h (P = 0.003), but did not change during the control saline infusion. In contrast, MCR of dehydroepiandrosterone in women did not change in the insulin clamp study during insulin infusion (2526 +/- 495 liters/24 h at baseline vs. 2442 +/- 491 liters/24 h during insulin infusion; P = 0.78). These findings suggest that insulin acutely increases the MCR of dehydroepiandrosterone in men but not in women.
Intradermal vs Intramuscular Hepatitis B Vaccinations-Reply
Authors: F. Blaine Hollinger
Journal: JAMA (1990)

In Reply.—  We applaud the well-designed study by Wistrom et al that demonstrates that low-dose ID inoculation of adults with three 2-μg doses of a recombinant hepatitis B vaccine (Recombivax-HB, Merck Sharp & Dohme) results in lower seroconversion rates and reduced levels of antibody to HBsAg compared with three 10-μg IM injections of the same product.  These results are not unexpected. There is a positive correlation between dose and immune response regardless of the type of product used. 1 In our ID study we were able to use the more immunogenic plasma-derived Hepta
Paying Your Sickness Bills
Authors: Michael Marks Davis
Journal: New England Journal of Medicine (1931)

This volume is published to include studies made under grants from the Rockefeller Foundation. It includes much of the material that Mr. Davis has used in his addresses and his published articles in recent years. He writes well, he has an extensive knowledge of medical conditions and affairs in various parts of the country, and he is able to present the story graphically. Thus he has drawn together a vast amount of statistical and other data concerning medical practice in this country. Through his association with various clinics, dispensaries and other attempts to provide adequate service for the middle class, he is able to contribute first hand information on the costs and the results of such institutions. One of his chapters deals with a study of sickness cost and care in 536 Chicago families based on a report made by the Institute of Medicine. A section on fee tables is
Alkaptonuria and Aortic Stenosis
Authors: Stephen C. Vlay, Alan R. Hartman, Alfred T. Culliford
Journal: Annals of Internal Medicine (1986)

Letters and Corrections1 March 1986Alkaptonuria and Aortic StenosisSTEPHEN C. VLAY, M.D., ALAN R. HARTMAN, M.D., ALFRED T. CULLIFORD, M.D.STEPHEN C. VLAY, M.D., ALAN R. HARTMAN, M.D., ALFRED T. CULLIFORD, M.D.Author, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-104-3-446_1 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptTo the editor: Alkaptonuria, a hereditary disorder related to the absence of homogentisic acid oxidase, may be associated with cardiovascular disease (1-4). Because of its low prevalence in the population, its incidence among patients with overt cardiovascular disorders is low. Nevertheless, patients may have generalized arteriosclerosis, chronic mitral and aortic valvulitis, and calcification of the valves and anulus.A 70-year-old woman was hospitalized for evaluation of syncope. The physical findings included classic signs of aortic stenosis, including a delayed carotid upstroke, 3/6 crescendo-decrescendo murmur at the base with radiation to the carotid arteries, absent A2 component of the second heart...References1. MCKUSICK V. Heritable Disorders of Connective Tissue. 4th ed. St. Louis: CV. Mosby Co.; 1972:455-74. Google Scholar2. GOULD L, REDDY C, DEPALMA D, DEMARTINO A, and KALISH P. Cardiac manifestations of ochronosis. J Thorac Cardiovasc Surg. 1976;72:788-91. CrossrefMedlineGoogle Scholar3. LEVINE H, PARISI A, HOLDSWORTH D, and COHN L. Aortic valve replacement for ochronosis of the aortic valve. Chest. 1978;74:466-7. MedlineGoogle Scholar4. O'BRIEN W, LADU B, and BUNIM J. Biochemical, pathologic and clinical aspects of alcaptonuria, ochronosis, and ochronotic arthropathy. Am J Med. 1963;34:813-38. CrossrefGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAuthors: STEPHEN C. VLAY, M.D.; ALAN R. HARTMAN, M.D.; ALFRED T. CULLIFORD, M.D. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byCardiovascular ochronosisDisorders of phenylalanine and tyrosine metabolismAortic StenosisCardiovascular findings in alkaptonuric ochronosisThe pathology of alkaptonuric ochronosis 1 March 1986Volume 104, Issue 3Page: 446-446KeywordsCardiovascular diseasesCardiovascular therapyCarotid arteriesHeartStenosisSyncope ePublished: 1 December 2008 Issue Published: 1 March 1986 PDF downloadLoading ...
Reduction of Hepatitis B Surface Antigen and Covalently Closed Circular DNA by Nucleos(t)ide Analogues of Different Potency
Authors: Danny Ka-Ho Wong, Wai-Kay Seto, James Fung, Philip Ip, Fung-Yu Huang, Ching-Lung Lai, Man-Fung Yuen
Journal: Clinical Gastroenterology and Hepatology (2013)
Immunohistochemical Study of Intestinal Biopsies from Children with Atopic Eczema due to Food Allergy
Authors: M. Perkkiö
Journal: Allergy (1980)

In 18 patients with skin reactions alter food challenge and in controls the numbers of immunoglobulin‐containing cells in the intestinal mucosa were studied by the direct immunoperoxidase technique; IgE and C 3 were studied by FITC‐conjugated sera also. Serum immunoglobulins, complement fractions 3 and 4, and reaginic antibodies to the foods were measured during the provocation. None of the Patients had any deficiency in the numbers of immunogloblin‐containing cells in the intestinal mucosa or in the serum immunoglobulin concentrations. The numbers of IgM‐ and IgA‐containing cells were higher in the patients than in the controls. But patients and controls had equally low numbers of IgE‐containing cells. No deposits of C 3 were seen in any of the biopsy specimens. Scrum IgE was increased m 13 cases. The presence of reaginic antibodies to cow's milk and cereals correlated well with the clinical reaction (12/15 and 5/7 of the cases). There was a negative correlation between the logarithm of serum IgE and the number of IgA‐containing cells in the jejunal mucosa ( P &lt; 0.01). High prechallenge counts of blood eosinophils were seen in seen cases and these showed a close correlation with the eosinophils in the jejunal mucosa ( P &lt; 0.001).
A Prevalent Variant in PPP1R3A Impairs Glycogen Synthesis and Reduces Muscle Glycogen Content in Humans and Mice
Authors: David B Savage, Lanmin Zhai, Balasubramanian Ravikumar, Cheol Soo Choi, Johanna E Snaar, Amanda C McGuire, Sung-Eun Wou, Gemma Medina-Gomez, Sheene Kim, Cheryl B Bock, Dyann M Segvich, Antonio Vidal-Puig, Nicholas J Wareham, Gerald I Shulman, Fredrik Karpe, Roy Taylor, Bartholomew A Pederson, Peter J Roach, Stephen O'Rahilly, Anna A DePaoli-Roach
Journal: PLoS Medicine (2008)

Stored glycogen is an important source of energy for skeletal muscle. Human genetic disorders primarily affecting skeletal muscle glycogen turnover are well-recognised, but rare. We previously reported that a frameshift/premature stop mutation in PPP1R3A, the gene encoding RGL, a key regulator of muscle glycogen metabolism, was present in 1.36% of participants from a population of white individuals in the UK. However, the functional implications of the mutation were not known. The objective of this study was to characterise the molecular and physiological consequences of this genetic variant.
HIV Infection Following Motor Vehicle Trauma in Central Africa
Authors: David R. Hill
Journal: JAMA (1989)

The prevention of human immunodeficiency virus (HIV) infection during international travel is gaining increased attention. In this report, a 32-year-old man acquired the HIV following a motor vehicle accident in Rwanda. During the accident the patient received multiple lacerations and was covered with the blood of similarly injured and bleeding passengers. This exposure through lacerated skin to the blood of persons with a high probability of being infected with HIV demonstrates an unusual mode of transmission and emphasizes the importance of HIV prevention during travel and of motor vehicle safety.
Control of sympathetic nerve activity by vagal mechanoreflexes is blunted in heart failure.
Authors: M E Dibner-Dunlap, M D Thames
Journal: Circulation (1992)

BACKGROUND Previous studies have documented abnormalities of arterial baroreflexes in animals and patients with congestive heart failure. This study determined whether cardiopulmonary reflex control of sympathetic nerve activity was abnormal in a canine model of low-output heart failure induced by rapid ventricular pacing. METHODS AND RESULTS We stimulated mechanoreceptors throughout the cardiopulmonary region by volume expansion and left atrial mechanoreceptors selectively by inflating small balloons at the junctions of the pulmonary veins and left atrium. Responses of renal sympathetic nerve activity and left atrial and systemic arterial pressures were recorded. In the control group, 15% volume expansion raised left atrial pressure 3.5 +/- 0.8 mm Hg and resulted in a 70 +/- 8% reduction in renal nerve activity. In the heart failure group, 15% volume expansion resulted in a 6.8 +/- 3.0 mm Hg rise in left atrial pressure with only a 16 +/- 20% reduction in renal nerve activity (p &lt; 0.01). When volume expansion was performed after pretreatment with hemorrhage to lower left atrial pressure to the normal range in the heart failure group, the markedly attenuated response in the heart failure group persisted. After vagotomy, volume expansion elicited no change in renal nerve activity. Inflation of the atrial balloons caused a 28 +/- 9% reduction in renal sympathetic nerve activity and a 13 +/- 4 mm Hg decrease in arterial pressure in the control group. Renal nerve activity (-5 +/- 3%) and mean arterial pressure (-1 +/- 1 mm Hg) did not change with balloon inflation in the heart failure group. CONCLUSIONS We conclude that dogs with low-output heart failure exhibit marked attenuation of cardiopulmonary mechanoreflex control of sympathetic nerve activity. This attenuated response is mediated via cardiac vagal afferent fibers and is due to either abnormalities in cardiopulmonary baroreceptors or abnormalities in the central nervous system.
Antihypertensive Function of a Renal-Cell Carcinoma
Authors: Randall M. Zusman, Joel J. Snider, Albert Cline, Burton V. Caldwell, Leon Speroff
Journal: New England Journal of Medicine (1974)

THE secretion of biologically active hormone-like materials by neoplastic cells is a well recognized phenomenon. Tumor extracts have been shown to possess biological activity compatible with adrenocorticotropin, melanocyte-stimulating hormone, thyroid-stimulating hormone, antidiuretic hormone, parathyroid hormone, insulin, glucagon, gastrin, serotonin and erythropoietin.1 Renal-cell carcinomas, in particular, have been associated with the secretion of erythropoietin,2 renin3 and parathyroid hormone.4 , 5 In the case recorded below, elevated plasma prostaglandin A concentrations were associated with a renal-cell carcinoma. Case Report A 49-year-old woman (N.E.M.C.H. 81–22–77) was admitted to the hospital for evaluation of fatigue, anemia, anorexia and a weight loss of 9.1 kg. Twenty years . . .
On the Treatment of Asthma by Sedatives
Authors: H. Salter
Journal: BMJ (1859)

With these facts before us, it behoves us to act with great cautioni wihere pregnancy is present; for there can be no doubt that now and then we meet witlh physiological and pathological effects, which are quite beyond the common beaten track of observation, and which can only be duly appreciated when the fatet that pregnancy exists is itself known.It has been urged by some professional men, that wlhile these peculiar symptoms incideent to pregnancy are possible, they are not common.I admit the fact; and I admit it on twentv vears of active expelrience.But it strikes me, from tle same experience, that cases of irritant poisoning are much less common; and I have sufficient confidence in my countrymen
The Intestinal Absorption of Dietary Cholesterol by Hypercholesterolemic (Type II) and Normocholesterolemic Humans
Authors: William E. Connor, Don S. Lin
Journal: Journal of Clinical Investigation (1974)

The incomplete absorption of dietary cholesterol may represent an adaptive intestinal barrier that prevents hypercholesterolemia. To explore this mechanism, we compared cholesterol absorption in 15 normocholesterolemic and 6 hypercholesterolemic (type II) subjects fed background cholesterol-free formula diets with 40% of calories as fat. Each test meal consisted of a breakfast into which was incorporated scrambled egg yolk containing 300-500 mg of cholesterol and [4-14C]cholesterol (3-22 μCi), either naturally incorporated into the yolk cholesterol by previous isotope injection into the laying hen or added in peanut oil to the yolk of the test breakfast. In some instances [1α-3H]cholesterol was the radioactive marker.
Cimetidine-Induced Acute Renal Failure
Authors: MICHAEL R. RUDNICK
Journal: Annals of Internal Medicine (1982)

Acute, partially reversible interstitial nephritis and azotemia developed in two patients after cimetidine treatment. Renal biopsy in Patient 2 showing acute interstitial nephritis and the recrudescence of azotemia after Patient 1's inadvertant rechallenge with the drug strongly indicate cimetidine's nephrotoxicity. The relation of the enhanced delayed hypersensitivity caused by H2-receptor blockade is proposed as a possible mechanism by which cimetidine causes interstitial nephritis.
Results of surgical treatment of ventricular septal defects with pulmonary hypertension.
Authors: S John, R Korula, P S Jairaj, S Muralidharan, E Ravikumar, C Babuthaman, I Sathyamoorthy, S Krishnaswamy, G Cherian, I P Sukumar
Journal: Thorax (1983)

Two hundred and twenty-five consecutive patients with interventricular septal defect and associated pulmonary hypertension have undergone corrective surgery at the Christian Medical College Hospital. The mean preoperative systolic pulmonary artery pressure was 70.5 (range 31-136) mm Hg and the calculated pulmonary vascular resistance ranged from 300 to 1680 dyn/s cm-5. A paracoronary right ventriculotomy was the approach of choice. Profound hypothermia and circulatory arrest were not used, even in 12 patients weighing under 10 kg. Among the older children and young adolescents there were 27 who had a calculated pulmonary vascular resistance of over 800 dyn/s cm-1 and their mortality was 22%, which is good when compared with that of other series. It is evident that both the early and the late death rate after surgery increase with the age of the patient, especially in those with associated pulmonary hypertension. In 69 patients studied after repair recatheterisation showed no residual defect by oximetry. The fall in the pulmonary artery pressures after surgery has been striking in most patients. The late death rate was 2.5%. The surviving patients are leading normal, active lives.
Overexpression of Sirt7 Exhibits Oncogenic Property and Serves as a Prognostic Factor in Colorectal Cancer
Authors: Hongyan Yu, Wen Ye, Jiangxue Wu, Xiangqi Meng, Ran-yi Liu, Xiaofang Ying, Yi Zhou, Hui Wang, Changchuan Pan, Wenlin Huang
Journal: Clinical Cancer Research (2014)

Sirtuins play an important role in cancer development. Sirt7, as a member of this family, is frequently overexpressed in certain carcinomas, but the oncogenic mechanism is seldom reported. In this study, Sirt7 was characterized for its role in colorectal cancer aggressiveness and underlying molecular mechanisms.Quantitative PCR, Western blotting, and immunohistochemistry were performed to study Sirt7 expression in a cohort of colorectal cancer tissues and non-tumor tissues and cells. A series of in vitro and in vivo assays was performed to elucidate the function of Sirt7 in colorectal cancer and its underlying mechanisms. Association between the Sirt7 signature and survival was examined using Kaplan-Meier analysis and log-rank tests.The Sirt7 protein level significantly correlated with tumor stage (P = 0.029), lymph node metastasis (P = 0.046), and poor patient survival (P < 0.05). Sirt7 knockdown significantly inhibited colorectal cancer cell proliferation, colony formation, and motility. Ectopic Sirt7 expression promoted colony formation, induced a more invasive phenotype, and accelerated cell growth both in vitro and in vivo. Moreover, Sirt7 enhanced MAPK pathway activity concomitantly with p-ERK and p-MEK upregulation. In Sirt7-overexpressing cells, the mesenchymal markers vimentin and fibronectin were upregulated, and the epithelial markers E-cadherin and β-catenin were downregulated, which was linked to enhanced invasion by colorectal cancer cells.Our findings suggest that Sirt7 plays an important role in the development and progression of human colorectal cancer and functions as a valuable marker of colorectal cancer prognosis.
Glycosylated Hemoglobin Measurements and Diabetes
Authors: R. F. Webb
Journal: JAMA (1982)

To the Editor.—  The glycosylated hemoglobin (Hb A 1 ) test results used to estimate the prevalence of unrecognized diabetes among patients admitted to a coronary care unit are of interest; however, I was a bit stressed by the conclusions of Norman G. Soler, MD, PhD, and Stuart Frank, MD (1981;246:1690). The word practical is used, and I question this for several reasons. First, no mention is ever made of therapy decisions made at discharge (or at a three-month follow-up) based on elevated Hb A 1 values. Second, although the authors state An FPG [fasting plasma glucose] level of more than 140 mg/dL following an acute MI, in the absence of an elevated Hb A 1 value, indicated severe stress rather than previously unrecognized diabetes, I do not find data to support this. Specifically, there is no mention of follow-up FPG and Hb A, levels in the 21 patients that fall into this
Attention Sought for Neglected Diseases
Authors: Rebecca Voelker
Journal: JAMA (2009)

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