tbuckley/cabot-search huggingface dataset:
Who Owns Human Genes?
Authors: Lawrence O. Gostin
Journal: JAMA (2013)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA HomeNew OnlineCurrent IssueFor Authors Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA journal
Oncologic Outcome after Extraperitoneal Laparoscopic Radical Prostatectomy: Midterm Follow-up of 1115 Procedures
Authors: Alexandre Paul, Guillaume Ploussard, Nathalie Nicolaiew, Evanguelos Xylinas, Norman Gillion, Alexandre de la Taille, Dimitri Vordos, Andras Hoznek, René Yiou, Claude Clément Abbou, Laurent Salomon
Journal: European Urology (2009)
Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.
Authors: R Niehues, M Hasilik, G Alton, C Körner, M Schiebe-Sukumar, H G Koch, K P Zimmer, R Wu, E Harms, K Reiter, K von Figura, H H Freeze, H K Harms, T Marquardt
Journal: Journal of Clinical Investigation (1998)

Phosphomannose isomerase (PMI) deficiency is the cause of a new type of carbohydrate-deficient glycoprotein syndrome (CDGS). The disorder is caused by mutations in the PMI1 gene. The clinical phenotype is characterized by protein-losing enteropathy, while neurological manifestations prevailing in other types of CDGS are absent. Using standard diagnostic procedures, the disorder is indistinguishable from CDGS type Ia (phosphomannomutase deficiency). Daily oral mannose administration is a successful therapy for this new type of CDG syndrome classified as CDGS type Ib.
The Declining Length of Hospitalization for Tubal Sterilization
Authors: Peter M. Layde
Journal: JAMA (1981)

We analyzed factors affecting the length of hospital stay for tubal sterilization in 1970 and 1975, using data from the National Center for Health Statistic's Hospital Discharge Survey. The average hospital stay for tubal sterilization declined from 6.5 nights in 1970 to 4.0 nights in 1975. Pregnancy status, region of residence, and race were important determinants of the length of hospital stay. One technological innovation, the use of the laparoscope for tubal sterilization, accounted for 39% of the total length-of-stay reduction from 1970 to 1975. General changes in medical care from 1970 to 1975, combined with the introduction of laparoscopy, averted 1,363,000 nights of hospitalization for tubal sterilization in 1975. Conservatively, this resulted in a savings of more than $200 million. About $80 million of this savings was directly attributable to laparoscopy. Even greater savings could have been achieved if sterilization techniques requiring shorter hospital stays had been more widely used.
Bone Morphogenetic Protein-9 Is a Circulating Vascular Quiescence Factor
Authors: Laurent David, Christine Mallet, Michelle Keramidas, Noël Lamandé, Jean-Marie Gasc, Sophie Dupuis-Girod, Henri Plauchu, Jean-Jacques Feige, Sabine Bailly
Journal: Circulation Research (2008)

Angiogenesis is a complex process, requiring a finely tuned balance between numerous stimulatory and inhibitory signals. ALK1 (activin receptor like-kinase 1) is an endothelial-specific type 1 receptor of the transforming growth factor-beta receptor family. Heterozygotes with mutations in the ALK1 gene develop hereditary hemorrhagic telangiectasia type 2 (HHT2). Recently, we reported that bone morphogenetic protein (BMP)9 and BMP10 are specific ligands for ALK1 that potently inhibit microvascular endothelial cell migration and growth. These data lead us to suggest that these factors may play a role in the control of vascular quiescence. To test this hypothesis, we checked their presence in human serum. We found that human serum induced Smad1/5 phosphorylation. To identify the active factor, we tested neutralizing antibodies against BMP members and found that only the anti-BMP9 inhibited serum-induced Smad1/5 phosphorylation. The concentration of circulating BMP9 was found to vary between 2 and 12 ng/mL in sera and plasma from healthy humans, a value well above its EC(50) (50 pg/mL). These data indicated that BMP9 is circulating at a biologically active concentration. We then tested the effects of BMP9 in 2 in vivo angiogenic assays. We found that BMP9 strongly inhibited sprouting angiogenesis in the mouse sponge angiogenesis assay and that BMP9 could inhibit blood circulation in the chicken chorioallantoic membrane assay. Taken together, our results demonstrate that BMP9, circulating under a biologically active form, is a potent antiangiogenic factor that is likely to play a physiological role in the control of adult blood vessel quiescence.
A Longitudinal and Retrospective Study of PTSD Among Older Prisoners of War
Authors: Cynthia Lindman Port, Brian Engdahl, Patricia Frazier
Journal: American Journal of Psychiatry (2001)

OBJECTIVE: The authors examined the longitudinal changes in posttraumatic stress disorder (PTSD) symptom levels and prevalence rates over a 4-year time period among American former prisoners of war (POWs) from World War II and the Korean War. Retrospective symptom reports by World War II POWs dating back to shortly after repatriation were examined for 1) additional evidence of changing PTSD symptom levels and 2) evidence of PTSD cases with a long-delayed onset. METHOD: PTSD prevalence rates and symptom levels were measured by the Mississippi Scale for Combat-Related Posttraumatic Stress Disorder. For the longitudinal portion of the study, participants were 177 community-dwelling World War II and Korean POWs. For the retrospective portion, participants were 244 community-dwelling World War II POWs. RESULTS: PTSD prevalence rates and symptom levels increased significantly over the 4-year measurement interval. Retrospective symptom reports indicated that symptoms were highest shortly after the war, declined for several decades, and increased within the past two decades. Long-delayed onset of PTSD symptoms was rare. Demographic and psychosocial variables were used to characterize participants whose symptoms increased over 4 years and differentiate participants who reported a long-delayed symptom onset. CONCLUSIONS: Both longitudinal and retrospective data support a PTSD symptom pattern of immediate onset and gradual decline, followed by increasing PTSD symptom levels among older survivors of remote trauma.
Chronic pancreatitis: Focal pancreatitis or cancer? Is there a role for FNA/biopsy? Autoimmune pancreatitis
Authors: M. Levy, M. Wiersema, S. Chari
Journal: Endoscopy (2006)

EUS imaging has become routine for evaluation of pancreatic masses because of the staging information provided and ability to obtain a tissue diagnosis. However, distinction of pancreatic carcinoma from other malignant and benign pancreatic disorders, in particular focal chronic pancreatitis is particularly difficult. Efforts to increase the accuracy of sonographic imaging have included ultrasound contrast administration [1] [2] and use of a self-learning computer program for image analysis. [3] Early results offer promise as to their utility as an adjunctive measure to improve diagnostic accuracy. However, further study is needed to clarify the role of these techniques before general use can be advocated. Until then these techniques should be regarded as investigational.
Coronary Reserve Abnormalities in the Infarcted Myocardium
Authors: Flordeliza S. Villanueva, Gustavo Camarano, Suad Ismail, Norman C. Goodman, Jiri Sklenar, Sanjiv Kaul
Journal: Circulation (1996)

Background The aim of this study was to determine whether myocardial contrast echocardiography (MCE) during exogenous vasodilation can accurately delineate infarct size, and hence the extent of myocardial viability, both immediately (15 minutes) and late (3 hours) after reperfusion when postreflow coronary hyperemia is still present. Methods and Results Twenty-one open-chest anesthetized dogs underwent 3 to 6 hours of coronary occlusion followed by reperfusion. MCE was performed 15 minutes after reflow before and during infusion of 0.2 mg·kg −1 ·min −1 adenosine IV. In 12 dogs, infarct size was measured at this time. In the remaining 9 dogs, reperfusion was continued for 3 hours, when MCE was repeated before and after an infusion of 0.56 mg·kg −1 ·min −1 dipyridamole IV and infarct size was measured. In the absence of adenosine, MCE perfusion defect at 15 minutes underestimated infarct sizes at both 15 minutes and 3 hours, whereas in the presence of adenosine, the estimate of infarct size was more accurate. Similarly, in the absence of dipyridamole, although MCE perfusion defect underestimated infarct size (both measured 3 hours after reflow), in the presence of dipyridamole, the estimate of infarct size was more accurate. Conclusions By unmasking abnormalities in flow reserve within the infarct bed, MCE in conjunction with coronary vasodilators can accurately predict infarct size both 15 minutes and 3 hours after reperfusion. Thus, MCE can be used for assessing the extent of myocardial viability both immediately and late after reperfusion when postreflow coronary hyperemia is still present.
Taurine depresses INa and depolarises the membrane but does not affect membrane surface charges in perfused rabbit hearts
Authors: R. Dumaine, O. F Schanne, E. Ruiz-Petrich
Journal: Cardiovascular Research (1990)

The aim was to determine whether taurine influences the membrane surface charges in cardiac muscle.Screening of the negative charges at the outside surface of the membrane results in a shift of the steady state inactivation of the sodium system towards less negative potentials. This feature was used to study eventual effects of taurine on surface charges and the data were compared to the known influence of varying extracellular calcium.New Zealand rabbits (6-7 weeks, 1.25-1.75 kg) were anesthetised and the hearts were rapidly excised and perfused with the Langendorff technique.Standard microelectrodes were used to determine the effects of 20 mM taurine and varying Ca concentrations (from 0.3 to 5.0 mM) on action potential parameters. The resting potential was varied by changing extracellular K between 2.5 and 10 mM. Taurine significantly depolarised the membrane by about 3 mV between 5 and 10 mM Ko but not at 2.5 mM; the maximum rate of depolarisation (dV/dTmax) decreased significantly at all Ko except at 10 mM where taurine caused arrhythmias or cardiac arrest. The dV/dTmax upsilon resting potential relationship (a measure for the steady state sodium current inactivation) was not changed by taurine, but the current was depressed as a function of membrane potential, the depression being more pronounced at more positive membrane potentials. An increase in Cao from 0.3 to 5.0 mM displaced the half maximal value of the dV/dtmax upsilon resting potential relationship from -79 to -67 mV, showing that the screening effect of Ca on the negative charges at the outside surface of the membrane could be detected with this experimental approach.The decrease of the fast Na current by taurine can explain the arrhythmias observed at 10 mM external potassium, whereas the surface charges of the glycocalix were not affected.
SLC6 Neurotransmitter Transporters: Structure, Function, and Regulation
Authors: Anders S. Kristensen, Jacob Andersen, Trine N. Jørgensen, Lena Sørensen, Jacob Eriksen, Claus J. Loland, Kristian Strømgaard, Ulrik Gether
Journal: Pharmacological Reviews (2011)

The neurotransmitter transporters (NTTs) belonging to the solute carrier 6 (<i>SLC6</i>) gene family (also referred to as the neurotransmitter-sodium-symporter family or Na<sup>+</sup>/Cl<sup>−</sup>-dependent transporters) comprise a group of nine sodium- and chloride-dependent plasma membrane transporters for the monoamine neurotransmitters serotonin (5-hydroxytryptamine), dopamine, and norepinephrine, and the amino acid neurotransmitters GABA and glycine. The <i>SLC6</i> NTTs are widely expressed in the mammalian brain and play an essential role in regulating neurotransmitter signaling and homeostasis by mediating uptake of released neurotransmitters from the extracellular space into neurons and glial cells. The transporters are targets for a wide range of therapeutic drugs used in treatment of psychiatric diseases, including major depression, anxiety disorders, attention deficit hyperactivity disorder and epilepsy. Furthermore, psychostimulants such as cocaine and amphetamines have the <i>SLC6</i> NTTs as primary targets. Beginning with the determination of a high-resolution structure of a prokaryotic homolog of the mammalian <i>SLC6</i> transporters in 2005, the understanding of the molecular structure, function, and pharmacology of these proteins has advanced rapidly. Furthermore, intensive efforts have been directed toward understanding the molecular and cellular mechanisms involved in regulation of the activity of this important class of transporters, leading to new methodological developments and important insights. This review provides an update of these advances and their implications for the current understanding of the <i>SLC6</i> NTTs.
Cardiovascular effects of insulin.
Authors: M M Page, R B Smith, P J Watkins
Journal: BMJ (1976)

Insulin increased the heart rates of seven diabetics with normal cardiovascular reflexes. This effect, which was not due to hypoglycaemia, was greater in the upright than in the supine position and was produced by as little as one unit given intravenously. This increase in heart rate may be a compensatory response to maintain cardiac output.
The roles of ion channels in an inherited heart disease: molecular genetics of the long QT syndrome
Authors: R. S. Kass, M. P. Davies
Journal: Cardiovascular Research (1996)

Molecular genetics has revolutionized approaches to the detection management, and possible cure, of inherited diseases.The discovery of ion channel gene defects, SCN5A on chromosome 3 and HERG on chromosome 7, that underlie specific forms of the long QT syndrome (LQTS) [1-3] represents a major achievement in the understanding and potential therapeutic management of this inherited cardiac arrhythmia because specific functional changes in ion channel properties have been identified.In addition to this work, mutations have also been identified in a gene, KVLQT1, which, at the time this paper is being written, has been suggested, but not yet proven, to encode yet another potassium ion channel [4].Still another form of the disease, LQT4 has been linked to a fourth chromosomal location (4q25-27), and the identity of this mutant gene remains unknown [5].These important achievements in molecular biology of the disease were made possible by integration of phenotypic data collected over the years by clinicians involved in management of LQTS patients and their families with the detailed knowledge of the relationship between the molecular structure and function of voltage-gated ion channels [6][7][8].In this paper, we will review these recent findings, relate them to the basic electrophysiological parameters that are known to control the duration of the ventricular action potential, and discuss, in particular, promising recent results that suggest that improved pharmacological management of some forms of LQTS may already be emerging from this exciting work.Other aspects of the molecular genetics of LQTS have also
The history of the idea of allergy
Authors: J. M. Igea
Journal: Allergy (2013)

About 100 years ago, a young paediatrician understood that the function of the immune system should be rationalized not in terms of exemption of disease but in terms of change of reactivity. He coined a new word to represent such an idea: 'allergy': the first contact of the immune system with an antigen changes the reactivity of the individual; on the second and subsequent contacts, this change (or allergy) can induce a spectrum of responses from protective (literally, immune) to hypersensitivity ones. The idea was at first hardly understood by the scientific community because it undermined the essentially protective nature of the immune response as it was defined. Nevertheless, in the next years, the growing clinical evidence led to the acceptance of this new point of view, but not of the new word, at least not unconditionally. The original significance of the neologism 'allergy' became perverted and limited to describe hypersensitivity conditions. Perhaps because of the corruption of the term, today 'allergy' does not have a well-delimited significance among health professionals. Furthermore, the word has long ago escaped from physicians and gone to the streets, where it is popularly used also as synonymous with antipathy and rejection. This vulgarization of the term 'allergy' has significantly increased its imprecision.
B-Type Natriuretic Peptide in Low-Flow, Low-Gradient Aortic Stenosis
Authors: Jutta Bergler-Klein, Gerald Mundigler, Philippe Pibarot, Ian G. Burwash, Jean G. Dumesnil, Claudia Blais, Christina Fuchs, Dania Mohty, Rob S. Beanlands, Zeineb Hachicha, Nicole Walter-Publig, Florian Rader, Helmut Baumgartner
Journal: Circulation (2007)

The prognostic value of B-type natriuretic peptide (BNP) is unknown in low-flow, low-gradient aortic stenosis (AS). We sought to evaluate the relationship between AS and rest, stress hemodynamics, and clinical outcome.BNP was measured in 69 patients with low-flow AS (indexed effective orifice area < 0.6 cm2/m2, mean gradient < or = 40 mm Hg, left ventricular ejection fraction < or = 40%). All patients underwent dobutamine stress echocardiography and were classified as truly severe or pseudosevere AS by their projected effective orifice area at normal flow rate of 250 mL/s (effective orifice area < or = 1.0 cm2 or > 1.0 cm2). BNP was inversely related to ejection fraction at rest (Spearman correlation coefficient r(s)=-0.59, P<0.0001) and at peak stress (r(s)=-0.51, P<0.0001), effective orifice area at rest (r(s)=-0.50, P<0.0001) and at peak stress (r(s)=-0.46, P=0.0002), and mean transvalvular flow (r(s)=-0.31, P=0.01). BNP was directly related to valvular resistance (r(s)=0.42, P=0.0006) and wall motion score index (r(s)=0.36, P=0.004). BNP was higher in 29 patients with truly severe AS versus 40 with pseudosevere AS (median, 743 pg/mL [Q1, 471; Q3, 1356] versus 394 pg/mL [Q1, 191 to Q3, 906], P=0.012). BNP was a strong predictor of outcome. In the total cohort, cumulative 1-year survival of patients with BNP > or = 550 pg/mL was only 47+/-9% versus 97+/-3% with BNP < 550 (P<0.0001). In 29 patients who underwent valve replacement, postoperative 1-year survival was also markedly lower in patients with BNP > or = 550 pg/mL (53+/-13% versus 92+/-7%).BNP is significantly higher in truly severe than pseudosevere low-gradient AS and predicts survival of the whole cohort and in patients undergoing valve replacement.
Presence of Adenosine in the Human Term Placenta: DETERMINATION OF ADENOSINE CONTENT AND PATHWAYS OF ADENOSINE METABOLISM
Authors: Meng Kwoon SIM, M. Helen MAGUIRE
Journal: Circulation Research (1972)

Adenosine, inosine, and hypoxanthine were isolated from human term placentas by paper chromatography of the dialyzates of aqueous placental homogenates and quantified by ultraviolet spectroscopy. Placentas obtained upon vaginal delivery contained 230 ± 18 nmoles adenosine/g tissue, 300 ± 29 nmoles inosine/g, and 250 ± 19 nmoles hypoxanthine/g. Three prelabor placentas obtained by cesarean section contained 44 ± 3 nmoles inosine/g and 277 ± 22 nmoles hypoxanthine/g, but adenosine was not detected in two of the placentas and was present only at 4 nmoles/g in the third. The activities of placental enzymes catabolizing ATP were determined in homogenates of term placentas. No adenylate deaminase or xanthine oxidase activity was found. Adenosinetriphosphatase, adenylate kinase, and 5'-nucleotidase were more active than were adenosine kinase, adenosine deaminase, and purine nucleoside phosphorylase. The results indicate that in the placenta both the formation of adenosine from adenosine monophosphate and the fate of adenosine, i.e., salvage or catabolism, are influenced by the level of adenosine triphosphate. Possibly, during labor, placental ischemia favors the enzymatic production of adenosine.
Pilot siudy with 1,25 (OH)2 vit D, calcium and calcitonin for severe osteodystrophy in primary biliary cirrhosis (PBC)
Authors: A. Floreani, H. Chiaramonte, S. Giannini, L. Malvasi, A. Giacomini, A. D'Angelo, R. Naccarato
Journal: Journal of Hepatology (1990)
EFFECT OF STATINS ON CORONARY ARTERY PLAQUE COMPOSITION: RESULTS FROM CONFIRM (CORONARY COMPUTED TOMOGRAPHIC ANGIOGRAPHY EVALUATION FOR CLINICAL OUTCOMES: AN INTERNATIONAL MULTICENTER REGISTRY)
Authors: Ryo Nakazato, Daniel Berman, Stephan Achenbach, Mouaz AI-Mallah, Matthew Budoff, Filippo Cademartiri, Tracy Callister, Victor Cheng, Kavitha Chinnaiyan, Benjamin Chow, Augustin DeLago, Allison Dunning, gudrun feuchtner, Millie Gomez, Heidi Gransar, Martin Hadamitzky, Joerg Hausleiter, Philipp Kaufmann, Fay Lin, Gilbert Raff, Leslee Shaw, Todd Villines, Troy LaBounty, James Min
Journal: Journal of the American College of Cardiology (2012)