tbuckley/cabot-search huggingface dataset:
KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron
Authors: Hélène Louis-Dit-Picard, Julien Barc, Daniel Trujillano, Stéphanie Miserey-Lenkei, Nabila Bouatia-Naji, Olena Pylypenko, Geneviève Beaurain, Amélie Bonnefond, Olivier Sand, Christophe Simian, Emmanuelle Vidal-Petiot, Christelle Soukaseum, Chantal Mandet, Françoise Broux, Olivier Chabre, Michel Delahousse, Vincent Esnault, Béatrice Fiquet, Pascal Houillier, Corinne Isnard Bagnis, Jens Koenig, Martin Konrad, Paul Landais, Chebel Mourani, Patrick Niaudet, Vincent Probst, Christel Thauvin, Robert J Unwin, Steven D Soroka, Georg Ehret, Stephan Ossowski, Mark Caulfield, Patrick Bruneval, Xavier Estivill, Philippe Froguel, Juliette Hadchouel, Jean-Jacques Schott, Xavier Jeunemaitre
Journal: Nature Genetics (2012)
The “Battering Syndrome”: Prevalence and Clinical Characteristics of Domestic Violence in Primary Care Internal Medicine Practices
Authors: Jeanne McCauley
Journal: Annals of Internal Medicine (1995)

Objectives: To determine the prevalence of domestic violence among female patients and to identify clinical characteristics that are associated with current domestic violence. Design: Cross-sectional, self-administered, anonymous survey. Setting: 4 community-based, primary care internal medicine practices. Patients: 1952 female patients of varied age and marital, educational, and economic status who were seen from February to July 1993. Measurements: The survey instrument included previously validated questions on physical and sexual abuse, alcohol abuse, and emotional status and questions on demographic characteristics, physical symptoms, use of street drugs and prescribed medications, and medical and psychiatric history. Results: 108 of the 1952 respondents (5.5%) had experienced domestic violence in the year before presentation. Four hundred eighteen (21.4%) had experienced domestic violence sometime in their adult lives, 429 (22.0%) before age 18 years, and 639 (32.7%) as either an adult or child. Compared with women who had not recently experienced domestic violence, currently abused patients were more likely to be younger than 35 years of age (prevalence ratio [PR], 4.1 [95% CI, 2.8 to 6.0]); were more likely to be single, separated, or divorced (PR, 2.5 [CI, 1.7 to 3.6]); were more likely to be receiving medical assistance or to have no insurance (PR, 4.3 [CI, 2.8 to 6.6]); had more physical symptoms (mean, 7.3 ± 0.38 compared with 4.6 ± 0.08; P < 0.001); had higher scores on instruments for depression, anxiety, somatization, and interpersonal sensitivity (low self-esteem) (P < 0.001); were more likely to have a partner abusing drugs or alcohol (PR, 6.3 [CI, 4.4 to 9.2]); were more likely to be abusing drugs (PR, 4.4 [CI, 1.9 to 10.4]) or alcohol (PR, 3.1 [CI, 1.5 to 6.5]); and were more likely to have attempted suicide (PR, 4.3 [CI, 2.8 to 6.5]). They visited the emergency department more frequently (PR, 1.7 [CI, 1.2 to 2.5]) but did not have more hospitalizations for psychiatric disorders. In a logistic regression model into which 9 risk factors were entered, the likelihood of current abuse increased with the number of risk factors, from 1.2% when 0 to 1 risk factors were present to 70.4% when 6 to 7 risk factors were present. Conclusions: In a large, diverse, community-based population of primary care patients, 1 of every 20 women had experienced domestic violence in the previous year; 1 of every 5 had experienced violence in their adult life; and 1 of every 3 had experienced violence as either a child or an adult. Current domestic violence is associated with single or separated status, socioeconomic status, substance abuse, specific psychological symptoms, specific physical symptoms, and the total number of physical symptoms.
Evidence based medicine inevitably increases testosterone prescribing
Authors: G. Hackett, M. Kirby, G. Jackson, K. Wylie
Journal: BMJ (2012)

Use of evidence based guidelines inevitably increases prescription of testosterone.1 2 National Institute for Health and Clinical Excellence (NICE) guidance on type 2 diabetes and the Quality Outcome Framework 2013 recommend asking all men annually about erectile dysfunction,3 a significant marker of cardiovascular risk.2 4 About 75% of men with type 2 diabetes have erectile dysfunction.2 Evidence …
A genetic program theory of aging using an RNA population model
Authors: Xiufang Wang, Zhihong Ma, Jianjun Cheng, Zhanjun Lv
Journal: Ageing Research Reviews (2013)

Aging is a common characteristic of multicellular eukaryotes. Copious hypotheses have been proposed to explain the mechanisms of aging, but no single theory is generally acceptable. In this article, we refine the RNA population gene activating model (Lv et al., 2003) based on existing reports as well as on our own latest findings. We propose the RNA population model as a genetic theory of aging. The new model can also be applied to differentiation and tumorigenesis and could explain the biological significance of non-coding DNA, RNA, and repetitive sequence DNA. We provide evidence from the literature as well as from our own findings for the roles of repetitive sequences in gene activation. In addition, we predict several phenomena related to aging and differentiation based on this model.
In-111 Pentetreotide in Recurrent Pineocytoma
Authors: Justo Serrano, Jose R. Infante, Juan I. Rayo, Luz Domínguez, Lucía García-Bernardo, Carmen Durán, Roman Sánchez
Journal: Clinical Nuclear Medicine (2009)

Pineocytoma is an uncommon slow-growing tumor of the pineal gland. We present a 45-year-old man with a history of a pineocytoma diagnosed 6 years ago. Surgical excision and radiotherapy had been performed. The patient remained asymptomatic until a few weeks ago, when he has began to experience an increasing slight headache. MRI was performed showing a lesion in the tentorium that could correspond to postradiotherapy changes or tumor relapse. Thallium-201 SPECT showed minimal faint uptake at the tentorium. In-111 pentetreotide SPECT showed very intense focal uptake at the same location. Radiation-induced meningioma was suspected. Surgical reresection and histologic examination revealed a recurrent pineocytoma.
Nonsense-associated altered splicing of the Patched gene fails to suppress carcinogenesis in Gorlin syndrome
Authors: M. Laimer, K. Önder, P. Schlager, C.M. Lanschuetzer, M. Emberger, S. Selhofer, H. Hintner, J.W. Bauer
Journal: British Journal of Dermatology (2008)

Mutations in the gene coding for the transmembrane receptor protein Patched (PTCH) are implicated in the autosomal dominant disorder Gorlin syndrome (also known as naevoid basal cell carcinoma syndrome), characterized by congenital abnormalities and cancer predisposition. Tumour promotion is thought to be associated with aberrant function of PTCH, leading to misregulation of the hedgehog signalling network. However, the transcriptional events that underlie the reduced tumour suppression effects of PTCH have not been studied in detail. We describe a patient with Gorlin syndrome who had three molecular aberrations resulting in biallelic disruption of the PTCH gene, leading to abnormal protein expression and development of basal cell carcinoma. Remarkably, within tumour cells, the somatic nonsense mutation G1019X was associated with activation of a cryptic splice donor site, in which an in-frame deletion of the exon sequence containing the nonsense mutation occurred. However, the function of the resulting PTCH protein variant was still compromised. The pathogenetic alterations described give insights into the sequence of events leading to cellular transformation and underscore the importance of the PTCH protein in skin homeostasis.
How to pay your way through medical school.
Authors: A P Armstrong
Journal: BMJ (1990)

Inactivated by heat ConclusionLikely future classification of viruses causing viral hepatitis * Hepatitis A virus-"infectious hepatitis" * Hepatitis B virus-'serum hepatitis" * Hepatitis C virus-principal lagents of non-A, * Hepatitis ?virus-less non-B hepatitis common * Hepatitis D virus-delta agent * Hepatitis E virus-enteric or epidemic
Localization of adrenergic and neuropeptide tyrosine-containing nerves in the mammalian liver
Authors: Alastair D. Burt, Dina Tiniakos, Roderick N. M. MacSween, Maureen R. Griffiths, Eddie Wisse, Julia M. Polak
Journal: Hepatology (1989)

The distribution of adrenergic nerves in guinea pig and rat liver was studied by the immunolocalization of fibers containing tyrosine hydroxylase and dopamine β-hydroxylase, enzymes involved in the synthesis of catecholamines. In both species, adrenergic fibers were identified within portal tracts, often in close proximity hepatic artery branches. In guinea pig liver, but not liver, abundant intraacinar fibers were identified; fibers were also seen within the walls of terminal hepatic vein radicles and larger hepatic veins. The presence of peptidergic nerves containing the regulatory peptide neuropeptide tyrosine and the C-flanking peptide CPON was investigated by indirect immunofluorescence. The distribution of these nerves was similar to that of tyrosine hydroxylase- and dopamine β-hydroxylase-positive nerves and showed the same species difference. The effector sympathetic nature of tyrosine hydroxylase- and neuropeptide tyrosine-positive fibers rat liver was confirmed by chemical denervation studies using 6-hydroxydopamine.
Polyphosphate amplifies proinflammatory responses of nuclear proteins through interaction with receptor for advanced glycation end products and P2Y1 purinergic receptor
Authors: Peyman Dinarvand, Seyed Mahdi Hassanian, Shabir H. Qureshi, Chandrashekhara Manithody, Joel C. Eissenberg, Likui Yang, Alireza R. Rezaie
Journal: Blood (2013)
The Impending Doctor Glut
Authors: B.-S. Nguyenle-Hieu
Journal: JAMA (1984)

<h3>To the Editor.—</h3> In the first paragraph of his letter to the editor entitled "Preventing the Impending Doctor Glut," Dr Louria<sup>1</sup>advanced three statements that called for comments. First, he stated that "the problem of physician maldistribution will be<i>virtually</i>solved within the next<i>few</i>years" [italics added]. We have read here and there that more new physicians are going to smaller towns than previously; however, observation in Nebraska shows that while the physician-population ratio is improving, fewer physicians practice in small towns and more counties are left without active physicians. The statement that the maldistribution will be virtually solved soon appears to be a wishful generalization. Second, he said that too many physicians would result in "physician dissatisfaction." In general, physicians do not consider new colleagues as a competitive threat but as providing helpful skills. We see in every issue of<i>JAMA</i>calls for colleagues to join practicing
An Unusual Combination of Findings in Renal Transplantation
Authors: BENJAMIN ROTHFELD, EVERETT K. SPEES, STANFORD M. GOLDMAN
Journal: Clinical Nuclear Medicine (1985)

Three cases involving renal scans that showed both severe photopenia and also increase in uptake in a rim surrounding the renal graft are presented. As previously mentioned in the literature, the bad prognostic import of photopenia is confirmed. The increased rim of activity has been rarely mentioned in the literature in the past and its possible causes are discussed.
TREATMENT OF INFECTIOUS MONONUCLEOSIS
Authors: Harry A. Feldman
Journal: JAMA (1960)

<h3>To the Editor:—</h3> The Journaloccupies a very unique place in American medicine. While its responsibilities are many, one of the most important would appear to be the field of applied therapeutics, a subject of the greatest concern for the practicing physician. Therefore, papers which deal with treatment should receive the closest scrutiny prior to publication, not only because they can be misleading to the physician but also because they can exert a deleterious effect upon the relation between doctor and producer. A case in point is a recent publication (Gothberg, L. A.: Severe Infectious Mononucleosis Treated with Chloroquine Phosphate,<i>J. A. M. A.</i><b>173:</b>53 [May 7] 1960) in which it is "demonstrated" that chloroquine is an effective drug for the treatment of infectious mononucleosis. The physician reading this report might conclude that such is the case. The astute detail man might, with some propriety, do likewise and subsequently
Folic Acid Deficiency in Sickle-Cell Anemia
Authors: John Lindenbaum, Frederick A. Klipstein
Journal: New England Journal of Medicine (1963)

ALTHOUGH the development of megaloblastic bone-marrow changes in the course of chronic hemolytic anemias was first described nearly thirty years ago1 only during the past decade has increasing emphasis been placed on this complication. Megaloblastic change has now been reported in association with both congenital and acquired hemolytic states, including hereditary spherocytosis,2 3 4 5 6 7 8 9 10 11 12 thalassemia,13 14 15 16 17 18 the hemoglobinopathies,19 20 21 22 23 24 25 26 27 28 hemolytic anemias in patients with positive Coombs tests2 , 18 , 29 and paroxysmal nocturnal hemoglobinuria.30 In the great majority of these reports direct evidence for either folic acid or vitamin B12 deficiency has been incomplete or absent, and therapeutic responses to huge "pharmacologic" doses of these agents . . .
Increased Thymidylate Synthase mRNA Concentration in Blood Leukocytes following an Experimental Stressor
Authors: Eva Ehrnrooth, Robert Zacharia, Gunner Svendsen, Michael M. Jørgensen, Maya Yishay, Boe S. Sørensen, Jørgen Hjelm Poulsen, Hans von der Maase
Journal: Psychotherapy and Psychosomatics (2002)

&lt;i&gt;Background:&lt;/i&gt; While it is well documented that immune responses, e.g. proliferative responses, can be influenced by psychosocial factors, e.g. stress, less is known about the biological mechanisms mediating such influences. The aim of the present investigation was to study the effect of an experimental stressor on mRNA levels in peripheral blood leukocytes of thymidylate synthase (TS), a gene necessary for cell division, while investigating possible individual differences in stress reactivity. &lt;i&gt;Methods:&lt;/i&gt; Fifteen healthy subjects were investigated under three experimental conditions: (1) exposure to a computerized mental stressor; (2) relaxation, and (3) control. Measurements included TS mRNA levels, total leukocyte number, leukocyte subtypes, and serum cortisol before (baseline), immediately after, and 1 h after each experimental condition.&lt;i&gt; Results:&lt;/i&gt; While no significant differences were found between experimental conditions at baseline in cortisol (p = 0.9) or TS mRNA levels (p = 0.1), significantly higher TS mRNA expression was found immediately after stress compared to pretreatment levels (p &lt; 0.02). Changes in cortisol levels indicated an effect of the experimental stressor, with higher cortisol levels seen immediately after stress as compared to both relaxation (p &lt; 0.01) and control (p &lt; 0.01). Subjects who scored above the median on the Tellegen Absorption Scale showed significantly (p &lt; 0.05) greater increases in cortisol and percentage of lymphocytes and significantly greater decreases in percentage of neutrophil cells after stress. &lt;i&gt;Conclusion:&lt;/i&gt; The results suggest that TS mRNA levels in peripheral leukocytes may be sensitive to mental stress and confirm previous findings indicating that subjects scoring high on the personality trait of absorption exhibit greater physiological stress reactivity.
Telemedicine: lessons remain unheeded
Authors: P. McLaren, C J Ball
Journal: BMJ (1995)

a short electronic letter received an electronic response almost 20 times that ofprint format. ConclusionsCompared with the paper journal system as currently constituted, the global information server most certainly is faster; research findings will be presented to scientists in days rather than years.It is also less expensive and potentially more equitable, at least for the type of information transfer entailed in a short research communication.The new technology will foster much more of an interchange among scientists through electronic mail.The internet is spreading rapidly to almost all countries; thus researchers in developing countries will have access to communication that they do not have through print.For these reasons and others presented earlier, we believe that the "printing" technology of the journals will rapidly be obsolete.If journals are to survive there will have to be a profound transformation to n dimensional knowledge structures.The people with the journals are skilled and can lead in part this revolution.However, they need to shake themselves away from the current mind set.It is time that scientists begin to take control of their research communication; the global health informa- tion server allows this to occur.We are just touching the capabilities of the systems.A discussion concerning the development of the system will become avail- able on the global health net home page (http:H/ www.pitt.edu/home/ghnet/ghnet.html).We invite you to join the dialogue.We should consider the development of a trial system for a specific discipline, such as epidemilogy or public health.This is similar to the development of the server in physics.We need to develop this not only with people in health but also with groups, such as the NASA Scientific Internet (NSI) and industry, who are more advanced than we are in telecommunications and who will allow us to take rapid advantage of the existing as well as future technologies.It is time to move beyond the vinyl records of journals articles to the CDs of research communication on the electronic information superhighway.
What Ins Wrong With Fee Splitting?
Authors: John H. Budd
Journal: JAMA (1966)

It is hard to capture in words, rules whose origin must be in the heart, and whose application must be governed by the conscience. Samuel Johnson declared it to be one of the maxims of civil law that definitions are hazardous,<sup>1</sup>and the statement applies equally to moral codes, where the intent of the law is so clearly more important than the letter of the law. Although medicine is much older than Christianity, and ethical principles for medical practice were conceived about 2500 BC by the Babylonians, there is still no immutable system of rules of ethics comparable to those of mathematics or the natural sciences. Fundamental principles regarding moral conduct have not changed, but it is necessary periodically to review and adjust the code to meet changing concepts and new situations without lowering the basic standards of integrity, the hallmark of an honorable profession. Fee splitting is condemned
Infant respiratory function after RSV-proven bronchiolitis.
Authors: C Dezateux, M E Fletcher, I Dundas, J Stocks
Journal: American Journal of Respiratory and Critical Care Medicine (1997)

The mechanisms underlying the increased risk of wheezing in early childhood following acute bronchiolitis in infancy remain unclear. Previous studies have reported significant abnormalities in infant respiratory function after clinical recovery from bronchiolitis, but are difficult to interpret because of the frequent omission of a concurrent comparison group. Respiratory function was compared within pairs of previously healthy full-term caucasian infants admitted with a first episode of acute bronchiolitis to an inner London hospital, and age- and sex-matched control infants without prior wheezing, asthma, or lower respiratory illness who were recruited from local general practices. Respiratory function was measured in 29 control and 29 asymptomatic index infants, with measurements in the latter done at a median interval of 36 wk (range: 16 to 49 wk) after admission, when 16 (55%) had experienced subsequent wheezing. Index infants tended to be autumn-born and of shorter gestation than control infants, to have younger mothers, and to have been exposed to tobacco smoke. There were no statistically significant differences in plethysmographic FRC, initial inspiratory airway resistance (Raw), or respiratory system compliance (mean [index minus control] within-pair difference [95% confidence interval]: -11 ml [-29, 7 ml]; -0.2 kPa/L/s [-0.7, 0.4 kPa/L/s]; -8 ml/kPa [-21, 4 ml/kPa], respectively), but respiratory rate and time to peak tidal flow as a proportion of total expiratory time (tPTEF:tE) were significantly diminished in index as compared with control infants (-4.0 breaths/min [-7.6, -0.4 breaths/min], versus -0.035 [-0.066, -0.005], respectively). These findings suggest a better prognosis for infant lung function after acute bronchiolitis than reported previously. Longitudinal studies are needed to clarify whether subclinical alterations in airway function precede acute bronchiolitis.
Purkinje network is the origin of the beats in Catecholaminergic Bidirectional Ventricular Tachycardia and in the initiating beat of Short Coupling Variant of Torsade de Pointes
Authors: Fernando E. Cruz, Marcio L. Fagundes, Carlo Napolitano, Angelo V. de Paola, Ivan G. Maia, Roberto S. Sa, Lulgarde M. Vanheusden, Luis R. Leite, Silvia G. Priori
Journal: Journal of the American College of Cardiology (2002)
Common variants on chromosome 5p12 confer susceptibility to estrogen receptor–positive breast cancer
Authors: Simon N Stacey, Andrei Manolescu, Patrick Sulem, Steinunn Thorlacius, Sigurjon A Gudjonsson, Gudbjörn F Jonsson, Margret Jakobsdottir, Jon T Bergthorsson, Julius Gudmundsson, Katja K Aben, Luc J Strobbe, Dorine W Swinkels, K C Anton van Engelenburg, Brian E Henderson, Laurence N Kolonel, Loic Le Marchand, Esther Millastre, Raquel Andres, Berta Saez, Julio Lambea, Javier Godino, Eduardo Polo, Alejandro Tres, Simone Picelli, Johanna Rantala, Sara Margolin, Thorvaldur Jonsson, Helgi Sigurdsson, Thora Jonsdottir, Jon Hrafnkelsson, Jakob Johannsson, Thorarinn Sveinsson, Gardar Myrdal, Hlynur Niels Grimsson, Steinunn G Sveinsdottir, Kristin Alexiusdottir, Jona Saemundsdottir, Asgeir Sigurdsson, Jelena Kostic, Larus Gudmundsson, Kristleifur Kristjansson, Gisli Masson, James D Fackenthal, Clement Adebamowo, Temidayo Ogundiran, Olufunmilayo I Olopade, Christopher A Haiman, Annika Lindblom, Jose I Mayordomo, Lambertus A Kiemeney, Jeffrey R Gulcher, Thorunn Rafnar, Unnur Thorsteinsdottir, Oskar T Johannsson, Augustine Kong, Kari Stefansson
Journal: Nature Genetics (2008)